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... owards Understanding Neurofibromatosis 1</title>
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Source: http://www.ncbi.nlm.nih.gov/entrez/eutils/erss.cgi?rss_guid=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk

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<title>neuromuscular disorders</title>
<link>https://pubmed.ncbi.nlm.nih.gov/rss-feed/?feed_id=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&v=2.18.0.post9+e462414&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&utm_source=Feedvalidator&utm_medium=rss&ff=20240426134820</link>
<description>neuromuscular disorders: Latest results from PubMed</description>
<atom:link href="https://pubmed.ncbi.nlm.nih.gov/rss-feed/?feed_id=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&v=2.18.0.post9+e462414&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&utm_source=Feedvalidator&utm_medium=rss&ff=20240426134820" rel="self"/>
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<lastBuildDate>Fri, 26 Apr 2024 17:48:22 +0000</lastBuildDate>
<pubDate>Fri, 26 Apr 2024 06:00:00 -0400</pubDate>
<ttl>120</ttl>
<item>
<title>Discovery of a novel homozygous SOD1 truncating variant bolsters infantile SOD1 deficiency syndrome</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38668754/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>CONCLUSIONS: Our findings contribute an affirmative report of a fourth biallelic variant resulting in a severe clinical phenotype, reminiscent of those induced by previously identified homozygous loss-of-function SOD1 variants. This research not only advances our understanding of the pathogenesis of this debilitating neurological syndrome but also aligns with ongoing intensive efforts to comprehend and address SOD1-linked ALS.</description>
<content:encoded><![CDATA[<div>Mol Biol Rep. 2024 Apr 26;51(1):580. doi: 10.1007/s11033-024-09513-6.ABSTRACTOBJECTIVE: Superoxide dismutase 1 (SOD1) is an important antioxidant enzyme whose main function is to neutralise superoxide free radicals in the cytoplasm. Heterozygous variants in SOD1 are responsible for a substantial percentage of familial amyotrophic lateral sclerosis (ALS) cases. Recently, several reports have shown that biallelic loss of SOD1 function results in a novel phenotype called infantile SOD1 deficiency syndrome, which is consistent with a recessive pattern of inheritance and can be distinguished from typical (adult-onset) ALS.METHODS: We documented detailed family histories and clinical data, followed by whole-exome sequencing and family co-segregation analysis through Sanger sequencing. To facilitate comparisons, relevant data from fifteen previously reported patients with SOD1-related neurodevelopmental disorders were included.RESULTS: This study presents a new Turkish family with two affected children exhibiting severe delayed motor development, infancy-onset loss of motor skills, axial hypotonia, tetraspasticity, and impaired cognitive functions. Genetic analysis revealed a novel homozygous frameshift variant in SOD1 (c.248dupG [p.Asp84Argfs*8]), with computational biochemical studies shedding light on the mechanistic aspects of SOD1 dysfunction.CONCLUSIONS: Our findings contribute an affirmative report of a fourth biallelic variant resulting in a severe clinical phenotype, reminiscent of those induced by previously identified homozygous loss-of-function SOD1 variants. This research not only advances our understanding of the pathogenesis of this debilitating neurological syndrome but also aligns with ongoing intensive efforts to comprehend and address SOD1-linked ALS.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38668754/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38668754</a> | DOI:<a href=https://doi.org/10.1007/s11033-024-09513-6>10.1007/s11033-024-09513-6</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38668754</guid>
<pubDate>Fri, 26 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Mustafa Dogan</dc:creator>
<dc:creator>Kerem Teralı</dc:creator>
<dc:creator>Recep Eroz</dc:creator>
<dc:creator>Hüseyin Kılıç</dc:creator>
<dc:creator>Alper Gezdirici</dc:creator>
<dc:creator>Burçin Gönüllü</dc:creator>
<dc:date>2024-04-26</dc:date>
<dc:source>Molecular biology reports</dc:source>
<dc:title>Discovery of a novel homozygous SOD1 truncating variant bolsters infantile SOD1 deficiency syndrome</dc:title>
<dc:identifier>pmid:38668754</dc:identifier>
<dc:identifier>doi:10.1007/s11033-024-09513-6</dc:identifier>
</item>
<item>
<title>Botulinum Toxin Injections for Psychiatric Disorders: A Systematic Review of the Clinical Trial Landscape</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38668616/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>Botulinum toxin type A (BONT-A) has shown promise in improving the mood-related symptoms of psychiatric disorders by targeting muscles linked to the expression of negative emotions. We conducted a systematic review of past and ongoing efficacy trials of BONT-A therapy for psychiatric disorders to identify relevant trends in the field and discuss the refinement of therapeutic techniques. A comprehensive search for published clinical trials using BONT-A injections for psychiatric disorders was...</description>
<content:encoded><![CDATA[<div>Toxins (Basel). 2024 Apr 15;16(4):191. doi: 10.3390/toxins16040191.ABSTRACTBotulinum toxin type A (BONT-A) has shown promise in improving the mood-related symptoms of psychiatric disorders by targeting muscles linked to the expression of negative emotions. We conducted a systematic review of past and ongoing efficacy trials of BONT-A therapy for psychiatric disorders to identify relevant trends in the field and discuss the refinement of therapeutic techniques. A comprehensive search for published clinical trials using BONT-A injections for psychiatric disorders was performed on 4 May 2023 through OVID databases (MEDLINE, Embase, APA PsycINFO). Unpublished clinical trials were searched through the ClinicalTrials.gov and International Clinical Trial Registry Platform public registries. The risk of bias was assessed using the JBI Critical Appraisal tools for use in systematic reviews. We identified 21 studies (17 published, 4 unpublished clinical trials) involving 471 patients. The studies focused on evaluating the efficacy of BONT-A for major depressive, borderline personality, social anxiety, and bipolar disorders. BONT-A was most commonly injected into the glabellar area, with an average dose ranging between 37.75 U and 44.5 U in published studies and between 32.7 U and 41.3 U in unpublished trials. The results indicated significant symptom reductions across all the studied psychiatric conditions, with mild adverse effects. Thus, BONT-A appears to be safe and well-tolerated for psychiatric disorders of negative affectivity. However, despite the clinical focus, there was a noted shortage of biomarker-related assessments. Future studies should focus on pursuing mechanistic explorations of BONT-A effects at the neurobiological level.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38668616/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38668616</a> | DOI:<a href=https://doi.org/10.3390/toxins16040191>10.3390/toxins16040191</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38668616</guid>
<pubDate>Fri, 26 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Ilya Demchenko</dc:creator>
<dc:creator>Alyssa Swiderski</dc:creator>
<dc:creator>Helen Liu</dc:creator>
<dc:creator>Hyejung Jung</dc:creator>
<dc:creator>Wendy Lou</dc:creator>
<dc:creator>Venkat Bhat</dc:creator>
<dc:date>2024-04-26</dc:date>
<dc:source>Toxins</dc:source>
<dc:title>Botulinum Toxin Injections for Psychiatric Disorders: A Systematic Review of the Clinical Trial Landscape</dc:title>
<dc:identifier>pmid:38668616</dc:identifier>
<dc:identifier>doi:10.3390/toxins16040191</dc:identifier>
</item>
<item>
<title>The Role of Botulinum Toxin Type-A in Spasticity: Research Trends from a Bibliometric Analysis</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38668609/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>Botulinum toxin type-A (BoNT-A) has emerged as a key therapeutic agent for the management of spasticity. This paper presents a comprehensive bibliometric and visual analysis of research concerning BoNT-A treatment of spasticity to elucidate current trends and future directions in this research area. A search was conducted in the Web of Science database for articles focused on the use of BoNT-A in spasticity published between 2000 and 2022. We extracted various metrics, including counts of...</description>
<content:encoded><![CDATA[<div>Toxins (Basel). 2024 Apr 9;16(4):184. doi: 10.3390/toxins16040184.ABSTRACTBotulinum toxin type-A (BoNT-A) has emerged as a key therapeutic agent for the management of spasticity. This paper presents a comprehensive bibliometric and visual analysis of research concerning BoNT-A treatment of spasticity to elucidate current trends and future directions in this research area. A search was conducted in the Web of Science database for articles focused on the use of BoNT-A in spasticity published between 2000 and 2022. We extracted various metrics, including counts of publications and contributions from different countries, institutions, authors, and journals. Analytical methods in CiteSpace were employed for the examination of co-citations, collaborations, and the co-occurrence of keywords. Our search yielded 1489 publications. Analysis revealed a consistent annual increase in research output. The United States, United Kingdom, and Italy were the leading contributors. The top institution in this research was Assistance Publique Hopitaux, Paris. The journal containing the highest number of relevant publications was Toxins. Key frequently occurring keywords were 'stroke', 'cerebral palsy', 'adult spasticity', and 'upper extremity'. This study identified 12 clusters of keywords and 15 clusters of co-cited references, indicating the main focus areas and emerging themes in this field. This study comprehensively analyzed and summarized trends in BoNT-A research in the field of spasticity over the past 22 years.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38668609/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38668609</a> | DOI:<a href=https://doi.org/10.3390/toxins16040184>10.3390/toxins16040184</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38668609</guid>
<pubDate>Fri, 26 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Salvatore Facciorusso</dc:creator>
<dc:creator>Stefania Spina</dc:creator>
<dc:creator>Alessandro Picelli</dc:creator>
<dc:creator>Alessio Baricich</dc:creator>
<dc:creator>Gerard E Francisco</dc:creator>
<dc:creator>Franco Molteni</dc:creator>
<dc:creator>Jörg Wissel</dc:creator>
<dc:creator>Andrea Santamato</dc:creator>
<dc:date>2024-04-26</dc:date>
<dc:source>Toxins</dc:source>
<dc:title>The Role of Botulinum Toxin Type-A in Spasticity: Research Trends from a Bibliometric Analysis</dc:title>
<dc:identifier>pmid:38668609</dc:identifier>
<dc:identifier>doi:10.3390/toxins16040184</dc:identifier>
</item>
<item>
<title>Reducing the Impact of Headache and Allodynia Score in Chronic Migraine: An Exploratory Analysis from the Real-World Effectiveness of Anti-CGRP Monoclonal Antibodies Compared to Onabotulinum Toxin A (RAMO) Study</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38668603/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>CONCLUSIONS: In this exploratory analysis, anti-CGRP mAbs showed superior effectiveness for HIT-6 and ASC12 compared to BoNT-A. Reductions in terms of month headache days (MHD), migraine disability assessment test (MIDAS), and migraine acute medications (MAM) were clinically relevant for both treatments.</description>
<content:encoded><![CDATA[<div>Toxins (Basel). 2024 Apr 7;16(4):178. doi: 10.3390/toxins16040178.ABSTRACTBACKGROUND: Chronic migraine (CM) is a disabling and hard-to-treat condition, associated with high disability and high cost. Among the preventive treatments, botulinum toxin A (BoNT-a) and monoclonal antibodies against the calcitonin gene-related protein (anti-CGRP mAbs) are the only disease-specific ones. The assessment of the disease burden is complex, and among others, tools such as the allodynia symptoms checklist (ASC-12) and headache impact test (HIT-6) are very useful. This exploratory study analysed the impact of these two therapies on migraine burden.METHODS: The RAMO study was a multicentre, observational, retrospective investigation conducted in two headache centres: the Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan) and the Fondazione Policlinico Campus Bio-Medico (Rome). This study involved patients with chronic migraine treated with mAbs or BoNT-A. We conducted a subgroup exploratory analysis on HIT-6 and ASC-12 scores in the two groups. The Wilcoxon rank-sum test, Fisher's exact test, and ANOVA were performed.RESULTS: Of 126 patients, 36 on mAbs and 90 on BoNT-A had at least one available follow-up. mAbs resulted in a mean reduction of -11.1 and -11.4 points, respectively, in the HIT-6 at 6 and 12 months, while BoNT-A was reduced -3.2 and -3.6 points, respectively; the mAbs arm resulted in mean reductions in ASC-12 at 6 and 12 months of follow-up of -5.2 and -6.0 points, respectively, while BoNT-A showed lesser mean changes of -0.5 and -0.9 points, respectively. The adjusted analysis confirmed our results.CONCLUSIONS: In this exploratory analysis, anti-CGRP mAbs showed superior effectiveness for HIT-6 and ASC12 compared to BoNT-A. Reductions in terms of month headache days (MHD), migraine disability assessment test (MIDAS), and migraine acute medications (MAM) were clinically relevant for both treatments.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38668603/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38668603</a> | DOI:<a href=https://doi.org/10.3390/toxins16040178>10.3390/toxins16040178</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38668603</guid>
<pubDate>Fri, 26 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Danilo Antonio Montisano</dc:creator>
<dc:creator>Riccardo Giossi</dc:creator>
<dc:creator>Mattia Canella</dc:creator>
<dc:creator>Claudia Altamura</dc:creator>
<dc:creator>Marilena Marcosano</dc:creator>
<dc:creator>Fabrizio Vernieri</dc:creator>
<dc:creator>Alberto Raggi</dc:creator>
<dc:creator>Licia Grazzi</dc:creator>
<dc:date>2024-04-26</dc:date>
<dc:source>Toxins</dc:source>
<dc:title>Reducing the Impact of Headache and Allodynia Score in Chronic Migraine: An Exploratory Analysis from the Real-World Effectiveness of Anti-CGRP Monoclonal Antibodies Compared to Onabotulinum Toxin A (RAMO) Study</dc:title>
<dc:identifier>pmid:38668603</dc:identifier>
<dc:identifier>doi:10.3390/toxins16040178</dc:identifier>
</item>
<item>
<title>Drosophila Contributions towards Understanding Neurofibromatosis 1</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38667335/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>Neurofibromatosis 1 (NF1) is a multisymptomatic disorder with highly variable presentations, which include short stature, susceptibility to formation of the characteristic benign tumors known as neurofibromas, intense freckling and skin discoloration, and cognitive deficits, which characterize most children with the condition. Attention deficits and Autism Spectrum manifestations augment the compromised learning presented by most patients, leading to behavioral problems and school failure, while...</description>
<content:encoded><![CDATA[<div>Cells. 2024 Apr 21;13(8):721. doi: 10.3390/cells13080721.ABSTRACTNeurofibromatosis 1 (NF1) is a multisymptomatic disorder with highly variable presentations, which include short stature, susceptibility to formation of the characteristic benign tumors known as neurofibromas, intense freckling and skin discoloration, and cognitive deficits, which characterize most children with the condition. Attention deficits and Autism Spectrum manifestations augment the compromised learning presented by most patients, leading to behavioral problems and school failure, while fragmented sleep contributes to chronic fatigue and poor quality of life. Neurofibromin (Nf1) is present ubiquitously during human development and postnatally in most neuronal, oligodendrocyte, and Schwann cells. Evidence largely from animal models including Drosophila suggests that the symptomatic variability may reflect distinct cell-type-specific functions of the protein, which emerge upon its loss, or mutations affecting the different functional domains of the protein. This review summarizes the contributions of Drosophila in modeling multiple NF1 manifestations, addressing hypotheses regarding the cell-type-specific functions of the protein and exploring the molecular pathways affected upon loss of the highly conserved fly homolog dNf1. Collectively, work in this model not only has efficiently and expediently modelled multiple aspects of the condition and increased understanding of its behavioral manifestations, but also has led to pharmaceutical strategies towards their amelioration.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38667335/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38667335</a> | DOI:<a href=https://doi.org/10.3390/cells13080721>10.3390/cells13080721</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38667335</guid>
<pubDate>Fri, 26 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Kalliopi Atsoniou</dc:creator>
<dc:creator>Eleni Giannopoulou</dc:creator>
<dc:creator>Eirini-Maria Georganta</dc:creator>
<dc:creator>Efthimios M C Skoulakis</dc:creator>
<dc:date>2024-04-26</dc:date>
<dc:source>Cells</dc:source>
<dc:title>Drosophila Contributions towards Understanding Neurofibromatosis 1</dc:title>
<dc:identifier>pmid:38667335</dc:identifier>
<dc:identifier>doi:10.3390/cells13080721</dc:identifier>
</item>
<item>
<title>AAV-Mediated Restoration of Dystrophin-Dp71 in the Brain of Dp71-Null Mice: Molecular, Cellular and Behavioral Outcomes</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38667332/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>A deficiency in the shortest dystrophin-gene product, Dp71, is a pivotal aggravating factor for intellectual disabilities in Duchenne muscular dystrophy (DMD). Recent advances in preclinical research have achieved some success in compensating both muscle and brain dysfunctions associated with DMD, notably using exon skipping strategies. However, this has not been studied for distal mutations in the DMD gene leading to Dp71 loss. In this study, we aimed to restore brain Dp71 expression in the...</description>
<content:encoded><![CDATA[<div>Cells. 2024 Apr 20;13(8):718. doi: 10.3390/cells13080718.ABSTRACTA deficiency in the shortest dystrophin-gene product, Dp71, is a pivotal aggravating factor for intellectual disabilities in Duchenne muscular dystrophy (DMD). Recent advances in preclinical research have achieved some success in compensating both muscle and brain dysfunctions associated with DMD, notably using exon skipping strategies. However, this has not been studied for distal mutations in the DMD gene leading to Dp71 loss. In this study, we aimed to restore brain Dp71 expression in the Dp71-null transgenic mouse using an adeno-associated virus (AAV) administrated either by intracardiac injections at P4 (ICP4) or by bilateral intracerebroventricular (ICV) injections in adults. ICP4 delivery of the AAV9-Dp71 vector enabled the expression of 2 to 14% of brain Dp71, while ICV delivery enabled the overexpression of Dp71 in the hippocampus and cortex of adult mice, with anecdotal expression in the cerebellum. The restoration of Dp71 was mostly located in the glial endfeet that surround capillaries, and it was associated with partial localization of Dp71-associated proteins, α1-syntrophin and AQP4 water channels, suggesting proper restoration of a scaffold of proteins involved in blood-brain barrier function and water homeostasis. However, this did not result in significant improvements in behavioral disturbances displayed by Dp71-null mice. The potential and limitations of this AAV-mediated strategy are discussed. This proof-of-concept study identifies key molecular markers to estimate the efficiencies of Dp71 rescue strategies and opens new avenues for enhancing gene therapy targeting cognitive disorders associated with a subgroup of severely affected DMD patients.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38667332/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38667332</a> | DOI:<a href=https://doi.org/10.3390/cells13080718>10.3390/cells13080718</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38667332</guid>
<pubDate>Fri, 26 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Ophélie Vacca</dc:creator>
<dc:creator>Faouzi Zarrouki</dc:creator>
<dc:creator>Charlotte Izabelle</dc:creator>
<dc:creator>Mehdi Belmaati Cherkaoui</dc:creator>
<dc:creator>Alvaro Rendon</dc:creator>
<dc:creator>Deniz Dalkara</dc:creator>
<dc:creator>Cyrille Vaillend</dc:creator>
<dc:date>2024-04-26</dc:date>
<dc:source>Cells</dc:source>
<dc:title>AAV-Mediated Restoration of Dystrophin-Dp71 in the Brain of Dp71-Null Mice: Molecular, Cellular and Behavioral Outcomes</dc:title>
<dc:identifier>pmid:38667332</dc:identifier>
<dc:identifier>doi:10.3390/cells13080718</dc:identifier>
</item>
<item>
<title>Chemogenetic Manipulation of Amygdala Kappa Opioid Receptor Neurons Modulates Amygdala Neuronal Activity and Neuropathic Pain Behaviors</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38667320/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>Neuroplasticity in the central nucleus of the amygdala (CeA) plays a key role in the modulation of pain and its aversive component. The dynorphin/kappa opioid receptor (KOR) system in the amygdala is critical for averse-affective behaviors in pain conditions, but its mechanisms are not well understood. Here, we used chemogenetic manipulations of amygdala KOR-expressing neurons to analyze the behavioral consequences in a chronic neuropathic pain model. For the chemogenetic inhibition or...</description>
<content:encoded><![CDATA[<div>Cells. 2024 Apr 19;13(8):705. doi: 10.3390/cells13080705.ABSTRACTNeuroplasticity in the central nucleus of the amygdala (CeA) plays a key role in the modulation of pain and its aversive component. The dynorphin/kappa opioid receptor (KOR) system in the amygdala is critical for averse-affective behaviors in pain conditions, but its mechanisms are not well understood. Here, we used chemogenetic manipulations of amygdala KOR-expressing neurons to analyze the behavioral consequences in a chronic neuropathic pain model. For the chemogenetic inhibition or activation of KOR neurons in the CeA, a Cre-inducible viral vector encoding Gi-DREADD (hM4Di) or Gq-DREADD (hM3Dq) was injected stereotaxically into the right CeA of transgenic KOR-Cre mice. The chemogenetic inhibition of KOR neurons expressing hM4Di with a selective DREADD actuator (deschloroclozapine, DCZ) in sham control mice significantly decreased inhibitory transmission, resulting in a shift of inhibition/excitation balance to promote excitation and induced pain behaviors. The chemogenetic activation of KOR neurons expressing hM3Dq with DCZ in neuropathic mice significantly increased inhibitory transmission, decreased excitability, and decreased neuropathic pain behaviors. These data suggest that amygdala KOR neurons modulate pain behaviors by exerting an inhibitory tone on downstream CeA neurons. Therefore, activation of these interneurons or blockade of inhibitory KOR signaling in these neurons could restore control of amygdala output and mitigate pain.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38667320/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38667320</a> | DOI:<a href=https://doi.org/10.3390/cells13080705>10.3390/cells13080705</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38667320</guid>
<pubDate>Fri, 26 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Guangchen Ji</dc:creator>
<dc:creator>Peyton Presto</dc:creator>
<dc:creator>Takaki Kiritoshi</dc:creator>
<dc:creator>Yong Chen</dc:creator>
<dc:creator>Edita Navratilova</dc:creator>
<dc:creator>Frank Porreca</dc:creator>
<dc:creator>Volker Neugebauer</dc:creator>
<dc:date>2024-04-26</dc:date>
<dc:source>Cells</dc:source>
<dc:title>Chemogenetic Manipulation of Amygdala Kappa Opioid Receptor Neurons Modulates Amygdala Neuronal Activity and Neuropathic Pain Behaviors</dc:title>
<dc:identifier>pmid:38667320</dc:identifier>
<dc:identifier>doi:10.3390/cells13080705</dc:identifier>
</item>
<item>
<title>Investigating Repeat Expansions in NIPA1, NOP56, and NOTCH2NLC Genes: A Closer Look at Amyotrophic Lateral Sclerosis Patients from Southern Italy</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38667292/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>The discovery of hexanucleotide repeats expansion (RE) in Chromosome 9 Open Reading frame 72 (C9orf72) as the major genetic cause of amyotrophic lateral sclerosis (ALS) and the association between intermediate repeats in Ataxin-2 (ATXN2) with the disorder suggest that repetitive sequences in the human genome play a significant role in ALS pathophysiology. Investigating the frequency of repeat expansions in ALS in different populations and ethnic groups is therefore of great importance. Based on...</description>
<content:encoded><![CDATA[<div>Cells. 2024 Apr 14;13(8):677. doi: 10.3390/cells13080677.ABSTRACTThe discovery of hexanucleotide repeats expansion (RE) in Chromosome 9 Open Reading frame 72 (C9orf72) as the major genetic cause of amyotrophic lateral sclerosis (ALS) and the association between intermediate repeats in Ataxin-2 (ATXN2) with the disorder suggest that repetitive sequences in the human genome play a significant role in ALS pathophysiology. Investigating the frequency of repeat expansions in ALS in different populations and ethnic groups is therefore of great importance. Based on these premises, this study aimed to define the frequency of REs in the NIPA1, NOP56, and NOTCH2NLC genes and the possible associations between phenotypes and the size of REs in the Italian population. Using repeat-primed-PCR and PCR-fragment analyses, we screened 302 El-Escorial-diagnosed ALS patients and compared the RE distribution to 167 age-, gender-, and ethnicity-matched healthy controls. While the REs distribution was similar between the ALS and control groups, a moderate association was observed between longer RE lengths and clinical features such as age at onset, gender, site of onset, and family history. In conclusion, this is the first study to screen ALS patients from southern Italy for REs in NIPA1, NOP56, and NOTCH2NLC genes, contributing to our understanding of ALS genetics. Our results highlighted that the extremely rare pathogenic REs in these genes do not allow an association with the disease.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38667292/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38667292</a> | DOI:<a href=https://doi.org/10.3390/cells13080677>10.3390/cells13080677</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38667292</guid>
<pubDate>Fri, 26 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Paola Ruffo</dc:creator>
<dc:creator>Francesca De Amicis</dc:creator>
<dc:creator>Vincenzo La Bella</dc:creator>
<dc:creator>Francesca Luisa Conforti</dc:creator>
<dc:date>2024-04-26</dc:date>
<dc:source>Cells</dc:source>
<dc:title>Investigating Repeat Expansions in NIPA1, NOP56, and NOTCH2NLC Genes: A Closer Look at Amyotrophic Lateral Sclerosis Patients from Southern Italy</dc:title>
<dc:identifier>pmid:38667292</dc:identifier>
<dc:identifier>doi:10.3390/cells13080677</dc:identifier>
</item>
<item>
<title>Wearable Movement Exploration Device with Machine Learning Algorithm for Screening and Tracking Diabetic Neuropathy-A Cross-Sectional, Diagnostic, Comparative Study</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38667158/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>CONCLUSIONS: Moveo represents an accurate, easy-to-use device suitable for home environments, showing promising results and potential for future usage.</description>
<content:encoded><![CDATA[<div>Biosensors (Basel). 2024 Mar 29;14(4):166. doi: 10.3390/bios14040166.ABSTRACTBACKGROUND: Diabetic neuropathy is one of the most common complications of diabetes mellitus. The aim of this study is to evaluate the Moveo device, a novel device that uses a machine learning (ML) algorithm to detect and track diabetic neuropathy. The Moveo device comprises 4 sensors positioned on the back of the hands and feet accompanied by a mobile application that gathers data and ML algorithms that are hosted on a cloud platform. The sensors measure movement signals, which are then transferred to the cloud through the mobile application. The cloud triggers a pipeline for feature extraction and subsequently feeds the ML model with these extracted features.METHODS: The pilot study included 23 participants. Eleven patients with diabetes and suspected diabetic neuropathy were included in the experimental group. In the control group, 8 patients had suspected radiculopathy, and 4 participants were healthy. All participants underwent an electrodiagnostic examination (EDx) and a Moveo examination, which consists of sensors placed on the feet and back of the participant's hands and use of the mobile application. The participant performs six tests that are part of a standard neurological examination, and a ML algorithm calculates the probability of diabetic neuropathy. A user experience questionnaire was used to compare participant experiences with regard to both methods.RESULTS: The total accuracy of the algorithm is 82.1%, with 78% sensitivity and 87% specificity. A high linear correlation up to 0.722 was observed between Moveo and EDx features, which underpins the model's adequacy. The user experience questionnaire revealed that the majority of patients preferred the less painful method.CONCLUSIONS: Moveo represents an accurate, easy-to-use device suitable for home environments, showing promising results and potential for future usage.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38667158/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38667158</a> | DOI:<a href=https://doi.org/10.3390/bios14040166>10.3390/bios14040166</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38667158</guid>
<pubDate>Fri, 26 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Goran Radunovic</dc:creator>
<dc:creator>Zoran Velickovic</dc:creator>
<dc:creator>Slavica Pavlov-Dolijanovic</dc:creator>
<dc:creator>Sasa Janjic</dc:creator>
<dc:creator>Biljana Stojic</dc:creator>
<dc:creator>Irena Jeftovic Velkova</dc:creator>
<dc:creator>Nikola Suljagic</dc:creator>
<dc:creator>Ivan Soldatovic</dc:creator>
<dc:date>2024-04-26</dc:date>
<dc:source>Biosensors</dc:source>
<dc:title>Wearable Movement Exploration Device with Machine Learning Algorithm for Screening and Tracking Diabetic Neuropathy-A Cross-Sectional, Diagnostic, Comparative Study</dc:title>
<dc:identifier>pmid:38667158</dc:identifier>
<dc:identifier>doi:10.3390/bios14040166</dc:identifier>
</item>
<item>
<title>SOD1 gene therapy delays ALS disease progression</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38666665/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>We present a patient with familial amyotrophic lateral sclerosis caused by an aggressive A4S mutation in the SOD1 gene. In 2020, the patient was enrolled in the VALOR SOD1 gene therapy phase-3 trial. At screening, the ALSFRS-R score was 41 (48 is normal) and the level of CSF-neurofilament L (an indicator of ongoing neuronal damage) was 11 000 ng/L (ref <650 ng/L). In the four years following enrollment, the patient received monthly intrathecal treatment with tofersen, an antisense...</description>
<content:encoded><![CDATA[<div>Lakartidningen. 2024 Apr 26;121:24044.ABSTRACTWe present a patient with familial amyotrophic lateral sclerosis caused by an aggressive A4S mutation in the SOD1 gene. In 2020, the patient was enrolled in the VALOR SOD1 gene therapy phase-3 trial. At screening, the ALSFRS-R score was 41 (48 is normal) and the level of CSF-neurofilament L (an indicator of ongoing neuronal damage) was 11 000 ng/L (ref <650 ng/L). In the four years following enrollment, the patient received monthly intrathecal treatment with tofersen, an antisense oligonucleotide compound that inhibits SOD1 protein expression and hence lowers the synthesis of toxic SOD1 protein species. Side effects have been minimal and mostly attributed to the spinal taps. The patient remains ambulatory with an active social lifestyle. The ALSFRS-R score has in the past 18 months stabilized around 35-37, CSF-NfL is 1 290 ng/L and plasma-NfL is 12 (reference <13). This is the first documented arresting intervention in a patient with ALS in Sweden.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38666665/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38666665</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38666665</guid>
<pubDate>Fri, 26 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Karin Forsberg</dc:creator>
<dc:creator>Merete Karlsborg</dc:creator>
<dc:creator>Lisette Salvesen</dc:creator>
<dc:creator>Kirsten Svenstrup</dc:creator>
<dc:creator>Ivar Winroth</dc:creator>
<dc:creator>Henrik Berntsson</dc:creator>
<dc:creator>Peter M Andersen</dc:creator>
<dc:date>2024-04-26</dc:date>
<dc:source>Lakartidningen</dc:source>
<dc:title>SOD1 gene therapy delays ALS disease progression</dc:title>
<dc:identifier>pmid:38666665</dc:identifier>
</item>
<item>
<title>Fungal Planet description sheets: 1550-1613</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38665977/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>Novel species of fungi described in this study include those from various countries as follows: Argentina, Neocamarosporium halophilum in leaf spots of Atriplex undulata. Australia, Aschersonia merianiae on scale insect (Coccoidea), Curvularia huamulaniae isolated from air, Hevansia mainiae on dead spider, Ophiocordyceps poecilometigena on Poecilometis sp. Bolivia, Lecanora menthoides on sandstone, in open semi-desert montane areas, Sticta monlueckiorum corticolous in a forest, Trichonectria...</description>
<content:encoded><![CDATA[<div>Persoonia. 2023 Jun;51:280-417. doi: 10.3767/persoonia.2023.51.08. Epub 2023 Dec 30.ABSTRACTNovel species of fungi described in this study include those from various countries as follows: Argentina, Neocamarosporium halophilum in leaf spots of Atriplex undulata. Australia, Aschersonia merianiae on scale insect (Coccoidea), Curvularia huamulaniae isolated from air, Hevansia mainiae on dead spider, Ophiocordyceps poecilometigena on Poecilometis sp. Bolivia, Lecanora menthoides on sandstone, in open semi-desert montane areas, Sticta monlueckiorum corticolous in a forest, Trichonectria epimegalosporae on apothecia of corticolous Megalospora sulphurata var. sulphurata, Trichonectria puncteliae on the thallus of Punctelia borreri. Brazil, Catenomargarita pseudocercosporicola (incl. Catenomargarita gen. nov.) hyperparasitic on Pseudocercospora fijiensis on leaves of Musa acuminata, Tulasnella restingae on protocorms and roots of Epidendrum fulgens. Bulgaria, Anthracoidea umbrosae on Carex spp. Croatia, Hymenoscyphus radicis from surface-sterilised, asymptomatic roots of Microthlaspi erraticum, Orbilia multiserpentina on wood of decorticated branches of Quercus pubescens. France, Calosporella punctatispora on dead corticated twigs of Aceropalus. French West Indies (Martinique), Eutypella lechatii on dead corticated palm stem. Germany, Arrhenia alcalinophila on loamy soil. Iceland, Cistella blauvikensis on dead grass (Poaceae). India, Fulvifomes maritimus on living Peltophorum pterocarpum, Fulvifomes natarajanii on dead wood of Prosopis juliflora, Fulvifomes subazonatus on trunk of Azadirachta indica, Macrolepiota bharadwajii on moist soil near the forest, Narcissea delicata on decaying elephant dung, Paramyrothecium indicum on living leaves of Hibiscus hispidissimus, Trichoglossum syamviswanathii on moist soil near the base of a bamboo plantation. Iran, Vacuiphoma astragalicola from stem canker of Astragalus sarcocolla. Malaysia, Neoeriomycopsis fissistigmae (incl. Neoeriomycopsidaceae fam. nov.) on leaf spots on flower Fissistigma sp. Namibia, Exophiala lichenicola lichenicolous on Acarospora cf. luederitzensis. Netherlands, Entoloma occultatum on soil, Extremus caricis on dead leaves of Carex sp., Inocybe pseudomytiliodora on loamy soil. Norway, Inocybe guldeniae on calcareous soil, Inocybe rupestroides on gravelly soil. Pakistan, Hymenagaricus brunneodiscus on soil. Philippines, Ophiocordyceps philippinensis parasitic on Asilus sp. Poland, Hawksworthiomyces ciconiae isolated from Ciconia ciconia nest, Plectosphaerella vigrensis from leaf spots on Impatiens noli-tangere, Xenoramularia epitaxicola from sooty mould community on Taxus baccata. Portugal, Inocybe dagamae on clay soil. Saudi Arabia, Diaporthe jazanensis on branches of Coffea arabica. South Africa, Alternaria moraeae on dead leaves of Moraea sp., Bonitomyces buffels-kloofinus (incl. Bonitomyces gen. nov.) on dead twigs of unknown tree, Constrictochalara koukolii on living leaves of Itea rhamnoides colonised by a Meliola sp., Cylindromonium lichenophilum on Parmelina tiliacea, Gamszarella buffelskloofina (incl. Gamszarella gen. nov.) on dead insect, Isthmosporiella africana (incl. Isthmosporiella gen. nov.) on dead twigs of unknown tree, Nothoeucasphaeria buffelskloofina (incl. Nothoeucasphaeria gen. nov.), on dead twigs of unknown tree, Nothomicrothyrium beaucarneae (incl. Nothomicrothyrium gen. nov.) on dead leaves of Beaucarnea stricta, Paramycosphaerella proteae on living leaves of Protea caffra, Querciphoma foliicola on leaf litter, Rachicladosporium conostomii on dead twigs of Conostomium natalense var. glabrum, Rhamphoriopsis synnematosa on dead twig of unknown tree, Waltergamsia mpumalanga on dead leaves of unknown tree. Spain, Amanita fulvogrisea on limestone soil, in mixed forest, Amanita herculis in open Quercus forest, Vuilleminia beltraniae on Cistus symphytifolius. Sweden, Pachyella pulchella on decaying wood on sand-silt riverbank. Thailand, Deniquelata cassiae on dead stem of Cassia fistula, Stomiopeltis thailandica on dead twigs of Magnolia champaca. Ukraine, Circinaria podoliana on natural limestone outcrops, Neonematogonum carpinicola (incl. Neonematogonum gen. nov.) on dead branches of Carpinus betulus. USA, Exophiala wilsonii water from cooling tower, Hygrophorus aesculeticola on soil in mixed forest, and Neocelosporium aereum from air in a house attic. Morphological and culture characteristics are supported by DNA barcodes. Citation: Crous PW, Costa MM, Kandemir H, et al. 2023. Fungal Planet description sheets: 1550-1613. Persoonia 51: 280-417. doi: 10.3767/persoonia.2023.51.08.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38665977/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38665977</a> | PMC:<a href="https://www.ncbi.nlm.nih.gov/pmc/PMC11041897/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">PMC11041897</a> | DOI:<a href=https://doi.org/10.3767/persoonia.2023.51.08>10.3767/persoonia.2023.51.08</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38665977</guid>
<pubDate>Fri, 26 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>P W Crous</dc:creator>
<dc:creator>M M Costa</dc:creator>
<dc:creator>H Kandemir</dc:creator>
<dc:creator>M Vermaas</dc:creator>
<dc:creator>D Vu</dc:creator>
<dc:creator>L Zhao</dc:creator>
<dc:creator>E Arumugam</dc:creator>
<dc:creator>A Flakus</dc:creator>
<dc:creator>Ž Jurjević</dc:creator>
<dc:creator>M Kaliyaperumal</dc:creator>
<dc:creator>S Mahadevakumar</dc:creator>
<dc:creator>R Murugadoss</dc:creator>
<dc:creator>R G Shivas</dc:creator>
<dc:creator>Y P Tan</dc:creator>
<dc:creator>M J Wingfield</dc:creator>
<dc:creator>S E Abell</dc:creator>
<dc:creator>T S Marney</dc:creator>
<dc:creator>C Danteswari</dc:creator>
<dc:creator>V Darmostuk</dc:creator>
<dc:creator>C M Denchev</dc:creator>
<dc:creator>T T Denchev</dc:creator>
<dc:creator>J Etayo</dc:creator>
<dc:creator>J Gené</dc:creator>
<dc:creator>S Gunaseelan</dc:creator>
<dc:creator>V Hubka</dc:creator>
<dc:creator>T Illescas</dc:creator>
<dc:creator>G M Jansen</dc:creator>
<dc:creator>K Kezo</dc:creator>
<dc:creator>S Kumar</dc:creator>
<dc:creator>E Larsson</dc:creator>
<dc:creator>K T Mufeeda</dc:creator>
<dc:creator>M Piątek</dc:creator>
<dc:creator>P Rodriguez-Flakus</dc:creator>
<dc:creator>P V S R N Sarma</dc:creator>
<dc:creator>M Stryjak-Bogacka</dc:creator>
<dc:creator>D Torres-Garcia</dc:creator>
<dc:creator>J Vauras</dc:creator>
<dc:creator>D A Acal</dc:creator>
<dc:creator>A Akulov</dc:creator>
<dc:creator>K Alhudaib</dc:creator>
<dc:creator>M Asif</dc:creator>
<dc:creator>S Balashov</dc:creator>
<dc:creator>H-O Baral</dc:creator>
<dc:creator>A Baturo-Cieśniewska</dc:creator>
<dc:creator>D Begerow</dc:creator>
<dc:creator>A Beja-Pereira</dc:creator>
<dc:creator>M V Bianchinotti</dc:creator>
<dc:creator>P Bilański</dc:creator>
<dc:creator>S Chandranayaka</dc:creator>
<dc:creator>N Chellappan</dc:creator>
<dc:creator>D A Cowan</dc:creator>
<dc:creator>F A Custódio</dc:creator>
<dc:creator>P Czachura</dc:creator>
<dc:creator>G Delgado</dc:creator>
<dc:creator>N I De Silva</dc:creator>
<dc:creator>J Dijksterhuis</dc:creator>
<dc:creator>M Dueñas</dc:creator>
<dc:creator>P Eisvand</dc:creator>
<dc:creator>V Fachada</dc:creator>
<dc:creator>J Fournier</dc:creator>
<dc:creator>Y Fritsche</dc:creator>
<dc:creator>F Fuljer</dc:creator>
<dc:creator>K G G Ganga</dc:creator>
<dc:creator>M P Guerra</dc:creator>
<dc:creator>K Hansen</dc:creator>
<dc:creator>N Hywel-Jones</dc:creator>
<dc:creator>A M Ismail</dc:creator>
<dc:creator>C R Jacobs</dc:creator>
<dc:creator>R Jankowiak</dc:creator>
<dc:creator>A Karich</dc:creator>
<dc:creator>M Kemler</dc:creator>
<dc:creator>K Kisło</dc:creator>
<dc:creator>W Klofac</dc:creator>
<dc:creator>I Krisai-Greilhuber</dc:creator>
<dc:creator>K P D Latha</dc:creator>
<dc:creator>R Lebeuf</dc:creator>
<dc:creator>M E Lopes</dc:creator>
<dc:creator>S Lumyong</dc:creator>
<dc:creator>J G Maciá-Vicente</dc:creator>
<dc:creator>G Maggs-Kölling</dc:creator>
<dc:creator>D Magistà</dc:creator>
<dc:creator>P Manimohan</dc:creator>
<dc:creator>M P Martín</dc:creator>
<dc:creator>E Mazur</dc:creator>
<dc:creator>M Mehrabi-Koushki</dc:creator>
<dc:creator>A N Miller</dc:creator>
<dc:creator>A Mombert</dc:creator>
<dc:creator>E A Ossowska</dc:creator>
<dc:creator>K Patejuk</dc:creator>
<dc:creator>O L Pereira</dc:creator>
<dc:creator>S Piskorski</dc:creator>
<dc:creator>M Plaza</dc:creator>
<dc:creator>A R Podile</dc:creator>
<dc:creator>A Polhorský</dc:creator>
<dc:creator>W Pusz</dc:creator>
<dc:creator>M Raza</dc:creator>
<dc:creator>M Ruszkiewicz-Michalska</dc:creator>
<dc:creator>M Saba</dc:creator>
<dc:creator>R M Sánchez</dc:creator>
<dc:creator>R Singh</dc:creator>
<dc:creator>L Śliwa</dc:creator>
<dc:creator>M E Smith</dc:creator>
<dc:creator>V M Stefenon</dc:creator>
<dc:creator>D Strasiftáková</dc:creator>
<dc:creator>N Suwannarach</dc:creator>
<dc:creator>K Szczepańska</dc:creator>
<dc:creator>M T Telleria</dc:creator>
<dc:creator>D S Tennakoon</dc:creator>
<dc:creator>M Thines</dc:creator>
<dc:creator>R G Thorn</dc:creator>
<dc:creator>J Urbaniak</dc:creator>
<dc:creator>M van der Vegte</dc:creator>
<dc:creator>V Vasan</dc:creator>
<dc:creator>C Vila-Viçosa</dc:creator>
<dc:creator>H Voglmayr</dc:creator>
<dc:creator>M Wrzosek</dc:creator>
<dc:creator>J Zappelini</dc:creator>
<dc:creator>J Z Groenewald</dc:creator>
<dc:date>2024-04-26</dc:date>
<dc:source>Persoonia</dc:source>
<dc:title>Fungal Planet description sheets: 1550-1613</dc:title>
<dc:identifier>pmid:38665977</dc:identifier>
<dc:identifier>pmc:PMC11041897</dc:identifier>
<dc:identifier>doi:10.3767/persoonia.2023.51.08</dc:identifier>
</item>
<item>
<title>Novel immunomodulatory therapies in myasthenia gravis</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38665106/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>Myasthenia gravis (MG) is an autoimmune disease characterized by fluctuating weakness of skeletal muscles. Despite current treatments, a significant percentage of patients remain symptomatic. This review explores new immunosuppressive therapies and ongoing clinical trials in MG, including depletion of B lymphocytes with agents such as rituximab and inebilizumab, as well as the use of eculizumab, efgartigimod, satralizumab, tocilizumab, and CAR-T (Chimeric Antigen Receptor-T) cell therapy. These...</description>
<content:encoded><![CDATA[<div>Rev Med Suisse. 2024 Apr 24;20(871):848-851. doi: 10.53738/REVMED.2024.20.871.848.ABSTRACTMyasthenia gravis (MG) is an autoimmune disease characterized by fluctuating weakness of skeletal muscles. Despite current treatments, a significant percentage of patients remain symptomatic. This review explores new immunosuppressive therapies and ongoing clinical trials in MG, including depletion of B lymphocytes with agents such as rituximab and inebilizumab, as well as the use of eculizumab, efgartigimod, satralizumab, tocilizumab, and CAR-T (Chimeric Antigen Receptor-T) cell therapy. These advancements aim to improve disease control and patients' quality of life.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38665106/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38665106</a> | DOI:<a href=https://doi.org/10.53738/REVMED.2024.20.871.848>10.53738/REVMED.2024.20.871.848</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38665106</guid>
<pubDate>Fri, 26 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Eglé Sukockiené</dc:creator>
<dc:creator>Marie Théaudin</dc:creator>
<dc:creator>Valentin Loser</dc:creator>
<dc:creator>Katia Staedler</dc:creator>
<dc:creator>Patrice H Lalive</dc:creator>
<dc:creator>Agustina M Lascano</dc:creator>
<dc:date>2024-04-26</dc:date>
<dc:source>Revue medicale suisse</dc:source>
<dc:title>Novel immunomodulatory therapies in myasthenia gravis</dc:title>
<dc:identifier>pmid:38665106</dc:identifier>
<dc:identifier>doi:10.53738/REVMED.2024.20.871.848</dc:identifier>
</item>
<item>
<title>Management of chronic inflammatory demyelinating polyradiculoneuropathy</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38665103/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is the most common chronic autoimmune neuropathy. Its management has considerably evolved over the last decade. In 2021, the diagnostic guidelines for CIDP were updated and the diagnostic criteria simplified. They enable better characterization of the electro-clinical phenotype of the disease, and emphasize supportive criteria, in particular neuro-muscular imaging. In terms of pathophysiology, the discovery of antibodies directed...</description>
<content:encoded><![CDATA[<div>Rev Med Suisse. 2024 Apr 24;20(871):833-836. doi: 10.53738/REVMED.2024.20.871.833.ABSTRACTChronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is the most common chronic autoimmune neuropathy. Its management has considerably evolved over the last decade. In 2021, the diagnostic guidelines for CIDP were updated and the diagnostic criteria simplified. They enable better characterization of the electro-clinical phenotype of the disease, and emphasize supportive criteria, in particular neuro-muscular imaging. In terms of pathophysiology, the discovery of antibodies directed against antigens in the nodal and paranodal regions has given rise to the concept of autoimmune nodopathy. Finally, the preliminary results of the ADHERE study on efgartigimod have rekindled hopes of a new, effective therapy for CIDP.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38665103/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38665103</a> | DOI:<a href=https://doi.org/10.53738/REVMED.2024.20.871.833>10.53738/REVMED.2024.20.871.833</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38665103</guid>
<pubDate>Fri, 26 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Valentin Loser</dc:creator>
<dc:creator>Katia Staedler</dc:creator>
<dc:creator>Eglé Sukockiené</dc:creator>
<dc:creator>Marjolaine Uginet</dc:creator>
<dc:creator>Renaud Du Pasquier</dc:creator>
<dc:creator>Patrice H Lalive</dc:creator>
<dc:creator>Marie Théaudin</dc:creator>
<dc:date>2024-04-26</dc:date>
<dc:source>Revue medicale suisse</dc:source>
<dc:title>Management of chronic inflammatory demyelinating polyradiculoneuropathy</dc:title>
<dc:identifier>pmid:38665103</dc:identifier>
<dc:identifier>doi:10.53738/REVMED.2024.20.871.833</dc:identifier>
</item>
<item>
<title>LINC complex alterations are a key feature of sporadic and familial ALS/FTD</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38664831/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder that primarily affects motor neurons, leading to progressive muscle weakness and loss of voluntary muscle control. While the exact cause of ALS is not fully understood, emerging research suggests that dysfunction of the nuclear envelope (NE) may contribute to disease pathogenesis and progression. The NE plays a role in ALS through several mechanisms, including nuclear pore defects, nucleocytoplasmic transport impairment,...</description>
<content:encoded><![CDATA[<div>Acta Neuropathol Commun. 2024 Apr 25;12(1):69. doi: 10.1186/s40478-024-01778-z.ABSTRACTAmyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder that primarily affects motor neurons, leading to progressive muscle weakness and loss of voluntary muscle control. While the exact cause of ALS is not fully understood, emerging research suggests that dysfunction of the nuclear envelope (NE) may contribute to disease pathogenesis and progression. The NE plays a role in ALS through several mechanisms, including nuclear pore defects, nucleocytoplasmic transport impairment, accumulation of mislocalized proteins, and nuclear morphology abnormalities. The LINC complex is the second biggest multi-protein complex in the NE and consists of the SUN1/2 proteins spanning the inner nuclear membrane and Nesprin proteins embedded in the outer membrane. The LINC complex, by interacting with both the nuclear lamina and the cytoskeleton, transmits mechanical forces to the nucleus regulating its morphology and functional homeostasis. In this study we show extensive alterations to the LINC complex in motor and cortical iPSC-derived neurons and spinal cord organoids carrying the ALS causative mutation in the C9ORF72 gene (C9). Importantly, we show that such alterations are present in vivo in a cohort of sporadic ALS and C9-ALS postmortem spinal cord and motor cortex specimens. We also found that LINC complex disruption strongly correlated with nuclear morphological alterations occurring in ALS neurons, independently of TDP43 mislocalization. Altogether, our data establish morphological and functional alterations to the LINC complex as important events in ALS pathogenic cascade, making this pathway a possible target for both biomarker and therapy development.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38664831/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38664831</a> | DOI:<a href=https://doi.org/10.1186/s40478-024-01778-z>10.1186/s40478-024-01778-z</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38664831</guid>
<pubDate>Thu, 25 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Riccardo Sirtori</dc:creator>
<dc:creator>Michelle J Gregoire</dc:creator>
<dc:creator>Emily M Potts</dc:creator>
<dc:creator>Alicia Collins</dc:creator>
<dc:creator>Liviana Donatelli</dc:creator>
<dc:creator>Claudia Fallini</dc:creator>
<dc:date>2024-04-25</dc:date>
<dc:source>Acta neuropathologica communications</dc:source>
<dc:title>LINC complex alterations are a key feature of sporadic and familial ALS/FTD</dc:title>
<dc:identifier>pmid:38664831</dc:identifier>
<dc:identifier>doi:10.1186/s40478-024-01778-z</dc:identifier>
</item>
<item>
<title>Dysregulation of innate immune signaling in animal models of spinal muscular atrophy</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38664795/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>CONCLUSIONS: In alignment with recent research on other neurodegenerative diseases, these findings suggest that hyperactivation of innate immunity contributes to SMA pathology. This work not only provides compelling evidence that hyperactive innate immune signaling is a primary effect of SMN depletion, but it also suggests that the SMN complex plays a regulatory role in this process in vivo. In summary, immune dysfunction in SMA is a consequence of reduced SMN levels and is driven by cellular...</description>
<content:encoded><![CDATA[<div>BMC Biol. 2024 Apr 25;22(1):94. doi: 10.1186/s12915-024-01888-z.ABSTRACTBACKGROUND: Spinal muscular atrophy (SMA) is a devastating neuromuscular disease caused by hypomorphic loss of function in the survival motor neuron (SMN) protein. SMA presents across a broad spectrum of disease severity. Unfortunately, genetic models of intermediate SMA have been difficult to generate in vertebrates and are thus unable to address key aspects of disease etiology. To address these issues, we developed a Drosophila model system that recapitulates the full range of SMA severity, allowing studies of pre-onset biology as well as late-stage disease processes.RESULTS: Here, we carried out transcriptomic and proteomic profiling of mild and intermediate Drosophila models of SMA to elucidate molecules and pathways that contribute to the disease. Using this approach, we elaborated a role for the SMN complex in the regulation of innate immune signaling. We find that mutation or tissue-specific depletion of SMN induces hyperactivation of the immune deficiency (IMD) and Toll pathways, leading to overexpression of antimicrobial peptides (AMPs) and ectopic formation of melanotic masses in the absence of an external challenge. Furthermore, the knockdown of downstream targets of these signaling pathways reduced melanotic mass formation caused by SMN loss. Importantly, we identify SMN as a negative regulator of a ubiquitylation complex that includes Traf6, Bendless, and Diap2 and plays a pivotal role in several signaling networks.CONCLUSIONS: In alignment with recent research on other neurodegenerative diseases, these findings suggest that hyperactivation of innate immunity contributes to SMA pathology. This work not only provides compelling evidence that hyperactive innate immune signaling is a primary effect of SMN depletion, but it also suggests that the SMN complex plays a regulatory role in this process in vivo. In summary, immune dysfunction in SMA is a consequence of reduced SMN levels and is driven by cellular and molecular mechanisms that are conserved between insects and mammals.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38664795/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38664795</a> | DOI:<a href=https://doi.org/10.1186/s12915-024-01888-z>10.1186/s12915-024-01888-z</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38664795</guid>
<pubDate>Thu, 25 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Eric L Garcia</dc:creator>
<dc:creator>Rebecca E Steiner</dc:creator>
<dc:creator>Amanda C Raimer</dc:creator>
<dc:creator>Laura E Herring</dc:creator>
<dc:creator>A Gregory Matera</dc:creator>
<dc:creator>Ashlyn M Spring</dc:creator>
<dc:date>2024-04-25</dc:date>
<dc:source>BMC biology</dc:source>
<dc:title>Dysregulation of innate immune signaling in animal models of spinal muscular atrophy</dc:title>
<dc:identifier>pmid:38664795</dc:identifier>
<dc:identifier>doi:10.1186/s12915-024-01888-z</dc:identifier>
</item>
<item>
<title>Taste disorders and alopecia in myasthenia gravis</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38664714/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>CONCLUSION: Clinicians should be aware of the non-motor symptoms in MG, especially in patients with severe myasthenic symptoms and thymoma-associated MG.</description>
<content:encoded><![CDATA[<div>BMC Neurol. 2024 Apr 25;24(1):139. doi: 10.1186/s12883-024-03644-w.ABSTRACTBACKGROUND: Non-motor symptoms in myasthenia gravis (MG) are rarely confirmed. Although there are some small cohort studies, a large-systemic survey has not yet been performed.METHODS: We investigated the incidence and clinical characteristics of patients with MG who had taste disorders and alopecia using data of 1710 patients with MG enrolled in the Japan MG Registry 2021.RESULTS: Among them, 104 (6.1%) out of 1692 patients and 138 (8.2%) out of 1688 patients had histories of taste disorders and alopecia, respectively. Among the patients with MG, taste disorders were significantly more common in women, those with severe symptoms, refractory MG, or thymoma-associated MG, and were less common in those with ocular MG. The taste disorders often occurred after the onset of MG and often responded to MG treatments. Alopecia was more common in MG patients with a history of bulbar palsy and thymoma, and it often occurred before the onset of MG and sometimes responded to MG treatments. Multivariate logistic regression analysis revealed taste disturbance was associated with worst quantitative MG score and thymoma-associated MG; and alopecia was associated with thymoma-associated MG.CONCLUSION: Clinicians should be aware of the non-motor symptoms in MG, especially in patients with severe myasthenic symptoms and thymoma-associated MG.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38664714/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38664714</a> | DOI:<a href=https://doi.org/10.1186/s12883-024-03644-w>10.1186/s12883-024-03644-w</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38664714</guid>
<pubDate>Thu, 25 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Akiyuki Uzawa</dc:creator>
<dc:creator>Shigeaki Suzuki</dc:creator>
<dc:creator>Satoshi Kuwabara</dc:creator>
<dc:creator>Hiroyuki Akamine</dc:creator>
<dc:creator>Yosuke Onishi</dc:creator>
<dc:creator>Manato Yasuda</dc:creator>
<dc:creator>Yukiko Ozawa</dc:creator>
<dc:creator>Naoki Kawaguchi</dc:creator>
<dc:creator>Tomoya Kubota</dc:creator>
<dc:creator>Masanori P Takahashi</dc:creator>
<dc:creator>Yasushi Suzuki</dc:creator>
<dc:creator>Genya Watanabe</dc:creator>
<dc:creator>Takashi Kimura</dc:creator>
<dc:creator>Takamichi Sugimoto</dc:creator>
<dc:creator>Makoto Samukawa</dc:creator>
<dc:creator>Naoya Minami</dc:creator>
<dc:creator>Masayuki Masuda</dc:creator>
<dc:creator>Shingo Konno</dc:creator>
<dc:creator>Yuriko Nagane</dc:creator>
<dc:creator>Kimiaki Utsugisawa</dc:creator>
<dc:date>2024-04-25</dc:date>
<dc:source>BMC neurology</dc:source>
<dc:title>Taste disorders and alopecia in myasthenia gravis</dc:title>
<dc:identifier>pmid:38664714</dc:identifier>
<dc:identifier>doi:10.1186/s12883-024-03644-w</dc:identifier>
</item>
<item>
<title>Guillain-Barre syndrome following scrub typhus: a case report and literature review</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38664621/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>CONCLUSIONS: Scrub typhus infection is likely to be a potential predisposing factor in GBS, while scrub typhus-associated GBS has a favorable prognosis.</description>
<content:encoded><![CDATA[<div>BMC Neurol. 2024 Apr 25;24(1):137. doi: 10.1186/s12883-024-03645-9.ABSTRACTBACKGROUND: Scrub typhus is an acute infectious disease caused by Orientia tsutsugamushi. Guillain-Barre syndrome (GBS) is an autoimmune-mediated peripheral neuropathy with a frequent history of prodromal infections, but GBS associated with scrub typhus is very rare.CASE PRESENTATION: We report a 51-year-old male patient who developed dysarthria and peripheral facial paralysis following the cure of scfrub typhus. CSF examination and electrophysiological findings suggested a diagnosis of GBS. After treatment with intravenous immunoglobulin, the patient's neurological condition improved rapidly.CONCLUSIONS: Scrub typhus infection is likely to be a potential predisposing factor in GBS, while scrub typhus-associated GBS has a favorable prognosis.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38664621/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38664621</a> | DOI:<a href=https://doi.org/10.1186/s12883-024-03645-9>10.1186/s12883-024-03645-9</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38664621</guid>
<pubDate>Thu, 25 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Shijun Hu</dc:creator>
<dc:creator>Zhichuan Lin</dc:creator>
<dc:creator>Tao Liu</dc:creator>
<dc:creator>Shixiong Huang</dc:creator>
<dc:creator>Hui Liang</dc:creator>
<dc:date>2024-04-25</dc:date>
<dc:source>BMC neurology</dc:source>
<dc:title>Guillain-Barre syndrome following scrub typhus: a case report and literature review</dc:title>
<dc:identifier>pmid:38664621</dc:identifier>
<dc:identifier>doi:10.1186/s12883-024-03645-9</dc:identifier>
</item>
<item>
<title>The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38664571/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>Facioscapulohumeral muscular dystrophy (FSHD) is the third most common form of hereditary myopathy. Sixty per cent of the world's population lives in Asia, so a significant percentage of the world's FSHD participants is expected to live there. To date, most FSHD studies have involved individuals of European descent, yet small-scale studies of East-Asian populations suggest that the likelihood of developing FSHD may vary. Here, we present the first genetically confirmed FSHD cohort of Indian...</description>
<content:encoded><![CDATA[<div>Eur J Hum Genet. 2024 Apr 25. doi: 10.1038/s41431-024-01577-z. Online ahead of print.ABSTRACTFacioscapulohumeral muscular dystrophy (FSHD) is the third most common form of hereditary myopathy. Sixty per cent of the world's population lives in Asia, so a significant percentage of the world's FSHD participants is expected to live there. To date, most FSHD studies have involved individuals of European descent, yet small-scale studies of East-Asian populations suggest that the likelihood of developing FSHD may vary. Here, we present the first genetically confirmed FSHD cohort of Indian ancestry, which suggests a pathogenic FSHD1 allele size distribution intermediate between European and North-East Asian populations and more asymptomatic carriers of 4 unit and 5 unit FSHD1 alleles than observed in European populations. Our data provides important evidence of differences relevant to clinical diagnostics and underscores the need for global FSHD participation in research and trial-ready Indian FSHD cohorts.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38664571/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38664571</a> | DOI:<a href=https://doi.org/10.1038/s41431-024-01577-z>10.1038/s41431-024-01577-z</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38664571</guid>
<pubDate>Thu, 25 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Venugopalan Y Vishnu</dc:creator>
<dc:creator>Richard J L F Lemmers</dc:creator>
<dc:creator>Alisha Reyaz</dc:creator>
<dc:creator>Rinkle Mishra</dc:creator>
<dc:creator>Tanveer Ahmad</dc:creator>
<dc:creator>Patrick J van der Vliet</dc:creator>
<dc:creator>Marcelina M Kretkiewicz</dc:creator>
<dc:creator>William L Macken</dc:creator>
<dc:creator>Stephanie Efthymiou</dc:creator>
<dc:creator>Natalia Dominik</dc:creator>
<dc:creator>Jasper M Morrow</dc:creator>
<dc:creator>Rohit Bhatia</dc:creator>
<dc:creator>Lindsay A Wilson</dc:creator>
<dc:creator>Henry Houlden</dc:creator>
<dc:creator>Michael G Hanna</dc:creator>
<dc:creator>Enrico Bugiardini</dc:creator>
<dc:creator>Silvère M van der Maarel</dc:creator>
<dc:creator>M V Padma Srivastava</dc:creator>
<dc:date>2024-04-25</dc:date>
<dc:source>European journal of human genetics : EJHG</dc:source>
<dc:title>The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India</dc:title>
<dc:identifier>pmid:38664571</dc:identifier>
<dc:identifier>doi:10.1038/s41431-024-01577-z</dc:identifier>
</item>
<item>
<title>Neurologic Dysphagia</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38664090/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>Dysphagia is commonly associated with neurologic/neuromuscular disorders including prematurity, cerebral palsy, traumatic brain injury, brain tumors, genetic disorders, and neuromuscular diseases. This article aims to review the major categories of neurologic dysphagia, to outline specific findings and special considerations for each population, and to acknowledge the importance of integrating each patient's medical prognosis, goals of care, and developmental stage into a multidisciplinary...</description>
<content:encoded><![CDATA[<div>Otolaryngol Clin North Am. 2024 Apr 24:S0030-6665(24)00046-X. doi: 10.1016/j.otc.2024.03.005. Online ahead of print.ABSTRACTDysphagia is commonly associated with neurologic/neuromuscular disorders including prematurity, cerebral palsy, traumatic brain injury, brain tumors, genetic disorders, and neuromuscular diseases. This article aims to review the major categories of neurologic dysphagia, to outline specific findings and special considerations for each population, and to acknowledge the importance of integrating each patient's medical prognosis, goals of care, and developmental stage into a multidisciplinary treatment plan.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38664090/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38664090</a> | DOI:<a href=https://doi.org/10.1016/j.otc.2024.03.005>10.1016/j.otc.2024.03.005</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38664090</guid>
<pubDate>Thu, 25 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Jillian Nyswonger Sugg</dc:creator>
<dc:creator>Janet Waimin Lee</dc:creator>
<dc:date>2024-04-25</dc:date>
<dc:source>Otolaryngologic clinics of North America</dc:source>
<dc:title>Neurologic Dysphagia</dc:title>
<dc:identifier>pmid:38664090</dc:identifier>
<dc:identifier>doi:10.1016/j.otc.2024.03.005</dc:identifier>
</item>
<item>
<title>Severe acute myositis and myocarditis on initiation of 6-weekly pembrolizumab post-COVID-19 mRNA vaccination</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38663935/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>We describe three cases of critical acute myositis with myocarditis occurring within 22 days of each other at a single institution, all within 1 month of receiving the initial cycle of the anti-PD-1 drug pembrolizumab. Analysis of T cell receptor repertoires from peripheral blood and tissues revealed a high degree of clonal expansion and public clones between cases, with several T cell clones expanded within the skeletal muscle putatively recognizing viral epitopes. All patients had recently...</description>
<content:encoded><![CDATA[<div>J Immunother Cancer. 2024 Apr 24;12(4):e008151. doi: 10.1136/jitc-2023-008151.ABSTRACTWe describe three cases of critical acute myositis with myocarditis occurring within 22 days of each other at a single institution, all within 1 month of receiving the initial cycle of the anti-PD-1 drug pembrolizumab. Analysis of T cell receptor repertoires from peripheral blood and tissues revealed a high degree of clonal expansion and public clones between cases, with several T cell clones expanded within the skeletal muscle putatively recognizing viral epitopes. All patients had recently received a COVID-19 mRNA booster vaccine prior to treatment and were positive for SARS-CoV2 Spike antibody. In conclusion, we report a series of unusually severe myositis and myocarditis following PD-1 blockade and the COVID-19 mRNA vaccination.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38663935/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38663935</a> | DOI:<a href=https://doi.org/10.1136/jitc-2023-008151>10.1136/jitc-2023-008151</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38663935</guid>
<pubDate>Thu, 25 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Robert A Watson</dc:creator>
<dc:creator>Weiyu Ye</dc:creator>
<dc:creator>Chelsea A Taylor</dc:creator>
<dc:creator>Elsita Jungkurth</dc:creator>
<dc:creator>Rosalin Cooper</dc:creator>
<dc:creator>Orion Tong</dc:creator>
<dc:creator>Tim James</dc:creator>
<dc:creator>Brian Shine</dc:creator>
<dc:creator>Monika Hofer</dc:creator>
<dc:creator>Damian Jenkins</dc:creator>
<dc:creator>Robert Pell</dc:creator>
<dc:creator>Eleni Ieremia</dc:creator>
<dc:creator>Stephanie Jones</dc:creator>
<dc:creator>David Maldonado-Perez</dc:creator>
<dc:creator>Ian S D Roberts</dc:creator>
<dc:creator>Nicholas Coupe</dc:creator>
<dc:creator>Mark R Middleton</dc:creator>
<dc:creator>Miranda J Payne</dc:creator>
<dc:creator>Benjamin P Fairfax</dc:creator>
<dc:date>2024-04-25</dc:date>
<dc:source>Journal for immunotherapy of cancer</dc:source>
<dc:title>Severe acute myositis and myocarditis on initiation of 6-weekly pembrolizumab post-COVID-19 mRNA vaccination</dc:title>
<dc:identifier>pmid:38663935</dc:identifier>
<dc:identifier>doi:10.1136/jitc-2023-008151</dc:identifier>
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<item>
<title>Vitamin B12 deficiency presenting as neck pain and cervical radiculopathy</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38663893/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>Vitamin B(12) is required for the formation of haematopoietic cells and the synthesis of myelin. Deficiency typically presents with fatigue and megaloblastic anaemia. Prolonged deficiency can cause neurological symptoms such as paresthesia, which can progress to subacute combined degeneration of the spinal cord. We describe an unusual presentation of B(12) deficiency in a young man who was initially diagnosed and treated for cervical radiculopathy. This case highlights the challenges of...</description>
<content:encoded><![CDATA[<div>BMJ Case Rep. 2024 Apr 24;17(4):e259696. doi: 10.1136/bcr-2024-259696.ABSTRACTVitamin B12 is required for the formation of haematopoietic cells and the synthesis of myelin. Deficiency typically presents with fatigue and megaloblastic anaemia. Prolonged deficiency can cause neurological symptoms such as paresthesia, which can progress to subacute combined degeneration of the spinal cord. We describe an unusual presentation of B12 deficiency in a young man who was initially diagnosed and treated for cervical radiculopathy. This case highlights the challenges of diagnosing B12 deficiency in patients with neurologic but without haematologic, abnormalities. While the current incidence of B12 deficiency in developed countries is low, cases are likely to rise with the increased adoption of veganism. Clinicians should be aware of the variable presentations of B12 deficiency because delayed diagnosis and treatment increases morbidity and can cause irreversible neurological deficits.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38663893/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38663893</a> | DOI:<a href=https://doi.org/10.1136/bcr-2024-259696>10.1136/bcr-2024-259696</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38663893</guid>
<pubDate>Thu, 25 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Ashin Mehta</dc:creator>
<dc:creator>Whitney Lynch</dc:creator>
<dc:creator>Pinky Jha</dc:creator>
<dc:date>2024-04-25</dc:date>
<dc:source>BMJ case reports</dc:source>
<dc:title>Vitamin B12 deficiency presenting as neck pain and cervical radiculopathy</dc:title>
<dc:identifier>pmid:38663893</dc:identifier>
<dc:identifier>doi:10.1136/bcr-2024-259696</dc:identifier>
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<item>
<title>Pretreatment mortality risk prediction model in patients with polymyositis/dermatomyositis-associated interstitial lung disease</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38663883/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>CONCLUSIONS: We developed and validated an evidence-based mortality risk prediction model with simple, readily accessible clinical variables in patients with PM/DM-ILD, which may inform clinical decision-making.</description>
<content:encoded><![CDATA[<div>RMD Open. 2024 Apr 24;10(2):e003850. doi: 10.1136/rmdopen-2023-003850.ABSTRACTOBJECTIVES: Risk prediction for patients with polymyositis/dermatomyositis-associated interstitial lung disease (PM/DM-ILD) is challenging due to heterogeneity in the disease course. We aimed to develop a mortality risk prediction model for PM/DM-ILD.METHODS: This prognostic study analysed patients with PM/DM-ILD admitted to Nanjing Drum Hospital from 2016 to 2021. The primary outcome was mortality within 1 year. We used a least absolute shrinkage and selection operator (LASSO) logistic regression model to identify predictive laboratory indicators. These indicators were used to create a laboratory risk score, and we developed a mortality risk prediction model by incorporating clinical factors. The evaluation of model performance encompassed discrimination, calibration, clinical utility and practical application for risk prediction and prognosis.RESULTS: Overall, 418 patients with PM/DM-ILD were enrolled and randomly divided into development (n=282) and validation (n=136) cohorts. LASSO logistic regression identified four optimal features in the development cohort, forming a laboratory risk score: C reactive protein, lactate dehydrogenase, CD3+CD4+ T cell counts and PO2/FiO2. The final prediction model integrated age, arthralgia, anti-melanoma differentiation-associated gene 5 antibody status, high-resolution CT pattern and the laboratory risk score. The prediction model exhibited robust discrimination (area under the receiver operating characteristic: 0.869, 95% CI 0.811 to 0.910), excellent calibration and valuable clinical utility. Patients were categorised into three risk groups with distinct mortality rates. The internal validation, sensitivity analyses and comparative assessments against previous models further confirmed the robustness of the prediction model.CONCLUSIONS: We developed and validated an evidence-based mortality risk prediction model with simple, readily accessible clinical variables in patients with PM/DM-ILD, which may inform clinical decision-making.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38663883/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38663883</a> | DOI:<a href=https://doi.org/10.1136/rmdopen-2023-003850>10.1136/rmdopen-2023-003850</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38663883</guid>
<pubDate>Thu, 25 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Xianhua Gui</dc:creator>
<dc:creator>Wangzhong Li</dc:creator>
<dc:creator>Hanyi Jiang</dc:creator>
<dc:creator>Rujia Wang</dc:creator>
<dc:creator>Min Yu</dc:creator>
<dc:creator>Tingting Zhao</dc:creator>
<dc:creator>Miao Ma</dc:creator>
<dc:creator>Jingjing Ding</dc:creator>
<dc:creator>Ziyi Jin</dc:creator>
<dc:creator>Yuying Qiu</dc:creator>
<dc:creator>Xiaohua Qiu</dc:creator>
<dc:creator>Yingwei Zhang</dc:creator>
<dc:creator>Min Cao</dc:creator>
<dc:creator>Mei Huang</dc:creator>
<dc:creator>Mengshu Cao</dc:creator>
<dc:creator>Jinghong Dai</dc:creator>
<dc:creator>Hourong Cai</dc:creator>
<dc:creator>Xiaoyan Xin</dc:creator>
<dc:creator>Yonglong Xiao</dc:creator>
<dc:date>2024-04-25</dc:date>
<dc:source>RMD open</dc:source>
<dc:title>Pretreatment mortality risk prediction model in patients with polymyositis/dermatomyositis-associated interstitial lung disease</dc:title>
<dc:identifier>pmid:38663883</dc:identifier>
<dc:identifier>doi:10.1136/rmdopen-2023-003850</dc:identifier>
</item>
<item>
<title>Unleashing the potential of mRNA therapeutics for inherited neurological diseases</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38662782/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>Neurological monogenic loss-of-function diseases are hereditary disorders resulting from gene mutations that decrease or abolish the normal function of the encoded protein. These conditions pose significant therapeutic challenges, which may be resolved through the development of innovative therapeutic strategies. RNA-based technologies, such as mRNA replacement therapy, have emerged as promising and increasingly viable treatments. Notably, mRNA therapy exhibits significant potential as a...</description>
<content:encoded><![CDATA[<div>Brain. 2024 Apr 25:awae135. doi: 10.1093/brain/awae135. Online ahead of print.ABSTRACTNeurological monogenic loss-of-function diseases are hereditary disorders resulting from gene mutations that decrease or abolish the normal function of the encoded protein. These conditions pose significant therapeutic challenges, which may be resolved through the development of innovative therapeutic strategies. RNA-based technologies, such as mRNA replacement therapy, have emerged as promising and increasingly viable treatments. Notably, mRNA therapy exhibits significant potential as a mutation-agnostic approach that can address virtually any monogenic loss-of-function disease. Therapeutic mRNA carries the information for a healthy copy of the defective protein, bypassing the problem of targeting specific genetic variants. Moreover, unlike conventional gene therapy, mRNA-based drugs are delivered through a simplified process that requires only transfer to the cytoplasm, thereby reducing the mutagenic risks related to DNA integration. Additionally, mRNA therapy exerts a transient effect on target cells, minimizing the risk of long-term unintended consequences. The remarkable success of mRNA technology for developing COVID-19 vaccines has rekindled interest in mRNA as a cost-effective method for delivering therapeutic proteins. However, further optimization is required to enhance mRNA delivery, particularly to the central nervous system, while minimizing adverse drug reactions and toxicity. In this comprehensive review, we delve into past, present, and ongoing applications of mRNA therapy for neurological monogenic loss-of-function diseases. We also discuss the promises and potential challenges presented by mRNA therapeutics in this rapidly advancing field. Ultimately, we underscore the full potential of mRNA therapy as a game-changing therapeutic approach for neurological disorders.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38662782/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38662782</a> | DOI:<a href=https://doi.org/10.1093/brain/awae135>10.1093/brain/awae135</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38662782</guid>
<pubDate>Thu, 25 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Edoardo Monfrini</dc:creator>
<dc:creator>Giacomo Baso</dc:creator>
<dc:creator>Dario Ronchi</dc:creator>
<dc:creator>Megi Meneri</dc:creator>
<dc:creator>Delia Gagliardi</dc:creator>
<dc:creator>Lorenzo Quetti</dc:creator>
<dc:creator>Federico Verde</dc:creator>
<dc:creator>Nicola Ticozzi</dc:creator>
<dc:creator>Antonia Ratti</dc:creator>
<dc:creator>Alessio Di Fonzo</dc:creator>
<dc:creator>Giacomo P Comi</dc:creator>
<dc:creator>Linda Ottoboni</dc:creator>
<dc:creator>Stefania Corti</dc:creator>
<dc:date>2024-04-25</dc:date>
<dc:source>Brain : a journal of neurology</dc:source>
<dc:title>Unleashing the potential of mRNA therapeutics for inherited neurological diseases</dc:title>
<dc:identifier>pmid:38662782</dc:identifier>
<dc:identifier>doi:10.1093/brain/awae135</dc:identifier>
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<item>
<title>The efficacy and safety of electroacupuncture for diabetic peripheral neuropathy: A protocol for a systematic review and meta-analysis</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38662762/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>BACKGROUND: Diabetic peripheral neuropathy (DPN) is a chronic complication of diabetes mellitus, which is the most common neuropathy worldwide. Owing to the inadequacies of existing treatment methods, managing DPN remains a significant challenge. Studies suggest that electroacupuncture (EA) could potentially serve as a beneficial alternative treatment for this condition. Nevertheless, there is still inadequate proof of its therapeutic effectiveness and safety. As a result, the goal of this...</description>
<content:encoded><![CDATA[<div>PLoS One. 2024 Apr 25;19(4):e0302228. doi: 10.1371/journal.pone.0302228. eCollection 2024.ABSTRACTBACKGROUND: Diabetic peripheral neuropathy (DPN) is a chronic complication of diabetes mellitus, which is the most common neuropathy worldwide. Owing to the inadequacies of existing treatment methods, managing DPN remains a significant challenge. Studies suggest that electroacupuncture (EA) could potentially serve as a beneficial alternative treatment for this condition. Nevertheless, there is still inadequate proof of its therapeutic effectiveness and safety. As a result, the goal of this protocol is to methodically compile the data pertaining to the effectiveness and security of EA in the management of DPN.METHODS: To find appropriate randomized controlled trials (RCTs), nine reliable databases in the English and Chinese languages will be examined. RevMan5.3 will be used to combine the retrieved data and perform meta-analyses. The methodological quality of the included RCTs will be evaluated using the Cochrane Risk of Bias Assessment 2.0 tool. The Grades of Recommendations, Assessment, Development, and Evaluation (GRADE) system will be utilized to evaluate the degree of strength and certainty of the evidence. We will also perform publication bias, sensitivity and subgroup analyses.DISCUSSION: This protocol describes the intended scope and approach for a forthcoming systematic review and meta-analysis that will inform therapeutic decision-making by offering current information on the efficacy and safety of EA in the treatment of DPN. The results of the study will help standardize strategies for EA in the treatment of DPN.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38662762/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38662762</a> | DOI:<a href=https://doi.org/10.1371/journal.pone.0302228>10.1371/journal.pone.0302228</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38662762</guid>
<pubDate>Thu, 25 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Jiawei Wang</dc:creator>
<dc:creator>Yajun Zhang</dc:creator>
<dc:creator>Qiqi Wu</dc:creator>
<dc:creator>Zhiyuan Bian</dc:creator>
<dc:creator>Ning Luo</dc:creator>
<dc:creator>Jing Sun</dc:creator>
<dc:creator>Binyan Yu</dc:creator>
<dc:creator>Jianqiao Fang</dc:creator>
<dc:date>2024-04-25</dc:date>
<dc:source>PloS one</dc:source>
<dc:title>The efficacy and safety of electroacupuncture for diabetic peripheral neuropathy: A protocol for a systematic review and meta-analysis</dc:title>
<dc:identifier>pmid:38662762</dc:identifier>
<dc:identifier>doi:10.1371/journal.pone.0302228</dc:identifier>
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<item>
<title>Neuropathic pain in patients with osteoarthritis of the hip before and after total hip arthroplasty</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38662731/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>CONCLUSION: Approximately one-third of the patients with hip OA had neuropathic pain. Therefore, neuropathic pain should be considered when treating patients with hip OA.</description>
<content:encoded><![CDATA[<div>PLoS One. 2024 Apr 25;19(4):e0301352. doi: 10.1371/journal.pone.0301352. eCollection 2024.ABSTRACTOBJECTIVES: The pain associated with osteoarthritis (OA) was thought to be nociceptive; however, neuropathic pain is also observed. We investigated the relationship between hip OA and neuropathic pain using the PainDETECT questionnaire (PDQ).METHODS: A total of 159 hips of 146 consecutive patients who underwent total hip arthroplasty (THA) with a diagnosis of OA were enrolled in this study. The prevalence of each pain phenotype was evaluated preoperatively and at 6 months postoperatively using the PDQ. Patient characteristics and numerical rating scale (NRS) scores were compared between a group with possible neuropathic pain (NP group) and a group with nociceptive pain (non-NP group).RESULTS: Before THA, neuropathic, unclear, and nociceptive pain was observed in 18, 36, and 105 hips, respectively. The prevalence in the NP group was 54 hips, accounting for approximately one-third of all hips, which decreased significantly to seven hips after THA. A significantly higher NRS score was observed in the NP group, both before and after THA.CONCLUSION: Approximately one-third of the patients with hip OA had neuropathic pain. Therefore, neuropathic pain should be considered when treating patients with hip OA.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38662731/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38662731</a> | DOI:<a href=https://doi.org/10.1371/journal.pone.0301352>10.1371/journal.pone.0301352</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38662731</guid>
<pubDate>Thu, 25 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Yohei Yamabe</dc:creator>
<dc:creator>Masahiro Hasegawa</dc:creator>
<dc:creator>Gai Kobayashi</dc:creator>
<dc:creator>Shine Tone</dc:creator>
<dc:creator>Yohei Naito</dc:creator>
<dc:creator>Akihiro Sudo</dc:creator>
<dc:date>2024-04-25</dc:date>
<dc:source>PloS one</dc:source>
<dc:title>Neuropathic pain in patients with osteoarthritis of the hip before and after total hip arthroplasty</dc:title>
<dc:identifier>pmid:38662731</dc:identifier>
<dc:identifier>doi:10.1371/journal.pone.0301352</dc:identifier>
</item>
<item>
<title>Delayed vagal nerve compressive neuropathy following placement of vagal nerve stimulator: case report</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38662025/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>Vagal neuropathy causing vocal fold palsy is an uncommon complication of vagal nerve stimulator (VNS) placement. It may be associated with intraoperative nerve injury or with device stimulation. Here we present the first case of delayed, compressive vagal neuropathy associated with VNS coil placement which presented with progressive hoarseness and vocal cord paralysis. Coil removal and vagal neurolysis was performed to relieve the compression. Larger 3 mm VNS coils were placed for continuation...</description>
<content:encoded><![CDATA[<div>Acta Neurochir (Wien). 2024 Apr 25;166(1):193. doi: 10.1007/s00701-024-06087-x.ABSTRACTVagal neuropathy causing vocal fold palsy is an uncommon complication of vagal nerve stimulator (VNS) placement. It may be associated with intraoperative nerve injury or with device stimulation. Here we present the first case of delayed, compressive vagal neuropathy associated with VNS coil placement which presented with progressive hoarseness and vocal cord paralysis. Coil removal and vagal neurolysis was performed to relieve the compression. Larger 3 mm VNS coils were placed for continuation of therapy. Coils with a larger inner diameter should be employed where possible to prevent this complication. The frequency of VNS-associated vagal nerve compression may warrant further investigation.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38662025/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38662025</a> | DOI:<a href=https://doi.org/10.1007/s00701-024-06087-x>10.1007/s00701-024-06087-x</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38662025</guid>
<pubDate>Thu, 25 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Hari McGrath</dc:creator>
<dc:creator>Zach Pennington</dc:creator>
<dc:creator>Madeline R Cross</dc:creator>
<dc:creator>Ernest M Hoffman</dc:creator>
<dc:creator>Nicholas M Gregg</dc:creator>
<dc:creator>Kendall K Tasche</dc:creator>
<dc:creator>Semirra L Bayan</dc:creator>
<dc:creator>Jamie J Van Gompel</dc:creator>
<dc:date>2024-04-25</dc:date>
<dc:source>Acta neurochirurgica</dc:source>
<dc:title>Delayed vagal nerve compressive neuropathy following placement of vagal nerve stimulator: case report</dc:title>
<dc:identifier>pmid:38662025</dc:identifier>
<dc:identifier>doi:10.1007/s00701-024-06087-x</dc:identifier>
</item>
<item>
<title>A Poem About ALS</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38661683/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>No abstract</description>
<content:encoded><![CDATA[<div>Am J Nurs. 2024 May 1;124(5):10. doi: 10.1097/01.NAJ.0001016304.08449.3a. Epub 2024 Apr 25.NO ABSTRACTPMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38661683/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38661683</a> | DOI:<a href=https://doi.org/10.1097/01.NAJ.0001016304.08449.3a>10.1097/01.NAJ.0001016304.08449.3a</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38661683</guid>
<pubDate>Thu, 25 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Jane Rosenberg LaForge</dc:creator>
<dc:date>2024-04-25</dc:date>
<dc:source>The American journal of nursing</dc:source>
<dc:title>A Poem About ALS</dc:title>
<dc:identifier>pmid:38661683</dc:identifier>
<dc:identifier>doi:10.1097/01.NAJ.0001016304.08449.3a</dc:identifier>
</item>
<item>
<title>Distinct transcriptomic profile of satellite cells contributes to preservation of neuromuscular junctions in extraocular muscles of ALS mice</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38661532/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>Amyotrophic lateral sclerosis (ALS) is a fatal neuromuscular disorder characterized by progressive weakness of almost all skeletal muscles, whereas extraocular muscles (EOMs) are comparatively spared. While hindlimb and diaphragm muscles of end-stage SOD1G93A (G93A) mice (a familial ALS mouse model) exhibit severe denervation and depletion of Pax7^(+)satellite cells (SCs), we found that the pool of SCs and the integrity of neuromuscular junctions (NMJs) are maintained in EOMs. In cell sorting...</description>
<content:encoded><![CDATA[<div>Elife. 2024 Apr 25;12:RP92644. doi: 10.7554/eLife.92644.ABSTRACTAmyotrophic lateral sclerosis (ALS) is a fatal neuromuscular disorder characterized by progressive weakness of almost all skeletal muscles, whereas extraocular muscles (EOMs) are comparatively spared. While hindlimb and diaphragm muscles of end-stage SOD1G93A (G93A) mice (a familial ALS mouse model) exhibit severe denervation and depletion of Pax7+satellite cells (SCs), we found that the pool of SCs and the integrity of neuromuscular junctions (NMJs) are maintained in EOMs. In cell sorting profiles, SCs derived from hindlimb and diaphragm muscles of G93A mice exhibit denervation-related activation, whereas SCs from EOMs of G93A mice display spontaneous (non-denervation-related) activation, similar to SCs from wild-type mice. Specifically, cultured EOM SCs contain more abundant transcripts of axon guidance molecules, including Cxcl12, along with more sustainable renewability than the diaphragm and hindlimb counterparts under differentiation pressure. In neuromuscular co-culture assays, AAV-delivery of Cxcl12 to G93A-hindlimb SC-derived myotubes enhances motor neuron axon extension and innervation, recapitulating the innervation capacity of EOM SC-derived myotubes. G93A mice fed with sodium butyrate (NaBu) supplementation exhibited less NMJ loss in hindlimb and diaphragm muscles. Additionally, SCs derived from G93A hindlimb and diaphragm muscles displayed elevated expression of Cxcl12 and improved renewability following NaBu treatment in vitro. Thus, the NaBu-induced transcriptomic changes resembling the patterns of EOM SCs may contribute to the beneficial effects observed in G93A mice. More broadly, the distinct transcriptomic profile of EOM SCs may offer novel therapeutic targets to slow progressive neuromuscular functional decay in ALS and provide possible 'response biomarkers' in pre-clinical and clinical studies.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38661532/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38661532</a> | PMC:<a href="https://www.ncbi.nlm.nih.gov/pmc/PMC11045223/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">PMC11045223</a> | DOI:<a href=https://doi.org/10.7554/eLife.92644>10.7554/eLife.92644</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38661532</guid>
<pubDate>Thu, 25 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Ang Li</dc:creator>
<dc:creator>Jianxun Yi</dc:creator>
<dc:creator>Xuejun Li</dc:creator>
<dc:creator>Li Dong</dc:creator>
<dc:creator>Lyle W Ostrow</dc:creator>
<dc:creator>Jianjie Ma</dc:creator>
<dc:creator>Jingsong Zhou</dc:creator>
<dc:date>2024-04-25</dc:date>
<dc:source>eLife</dc:source>
<dc:title>Distinct transcriptomic profile of satellite cells contributes to preservation of neuromuscular junctions in extraocular muscles of ALS mice</dc:title>
<dc:identifier>pmid:38661532</dc:identifier>
<dc:identifier>pmc:PMC11045223</dc:identifier>
<dc:identifier>doi:10.7554/eLife.92644</dc:identifier>
</item>
<item>
<title>Optimizing donor fascicle selection in Oberlin's procedure: A retrospective review of anatomical variability using intraoperative neuromonitoring</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38661385/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>CONCLUSIONS: Fascicle anatomy within the UN at the proximal arm is highly variable. The use of IONM can aid in optimizing donor fascicle selection for Oberlin's procedure.</description>
<content:encoded><![CDATA[<div>Microsurgery. 2024 May;44(4):e31178. doi: 10.1002/micr.31178.ABSTRACTBACKGROUND: Transfer of the fascicle carrying the flexor carpi ulnaris (FCU) branch of the ulnar nerve (UN) to the biceps/brachialis muscle branch of the musculocutaneous nerve (Oberlin's procedure), is a mainstay technique for elbow flexion restoration in patients with upper brachial plexus injury. Despite its widespread use, there are few studies regarding the anatomic location of the donor fascicle for Oberlin's procedure. Our report aims to analyze the anatomical variability of this fascicle within the UN, while obtaining quantifiable, objective data with intraoperative neuromonitoring (IONM) for donor fascicle selection.METHODS: We performed a retrospective review of patients at our institution who underwent an Oberlin's procedure from September 2019 to July 2023. We used IONM for donor fascicle selection (greatest FCU muscle and least intrinsic hand muscle activation). We prospectively obtained demographic and electrophysiological data, as well as anatomical location of donor fascicles and post-surgical morbidities. Surgeon's perception of FCU/intrinsic muscle contraction was compared to objective muscle amplitude during IONM.RESULTS: Eight patients were included, with a mean age of 30.5 years and an injury-to-surgery interval of 4 months. Donor fascicle was located anterior in two cases, posterior in two, radial in two and ulnar in two patients. Correlation between surgeon's perception and IONM findings were consistent in six (75%) cases. No long term motor or sensory deficits were registered.CONCLUSIONS: Fascicle anatomy within the UN at the proximal arm is highly variable. The use of IONM can aid in optimizing donor fascicle selection for Oberlin's procedure.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38661385/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38661385</a> | DOI:<a href=https://doi.org/10.1002/micr.31178>10.1002/micr.31178</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38661385</guid>
<pubDate>Thu, 25 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Lucas Marina</dc:creator>
<dc:creator>Elisa Sanz</dc:creator>
<dc:creator>M Carmen Morillo Balsera</dc:creator>
<dc:creator>Lara Cristobal</dc:creator>
<dc:creator>Andres A Maldonado</dc:creator>
<dc:date>2024-04-25</dc:date>
<dc:source>Microsurgery</dc:source>
<dc:title>Optimizing donor fascicle selection in Oberlin's procedure: A retrospective review of anatomical variability using intraoperative neuromonitoring</dc:title>
<dc:identifier>pmid:38661385</dc:identifier>
<dc:identifier>doi:10.1002/micr.31178</dc:identifier>
</item>
<item>
<title>Diagnosing and characterizing inflammatory myopathies at an Australian tertiary public hospital: Resource utilization and direct healthcare costs</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38661316/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>CONCLUSION: The diagnosis of IIMs requires substantial and costly resource use; however, our study has identified potential limitations in current practice and highlighted the need for streamlined diagnostic algorithms to improve patient outcomes and reduce healthcare-related economic burden.</description>
<content:encoded><![CDATA[<div>Int J Rheum Dis. 2024 Apr;27(4):e15153. doi: 10.1111/1756-185X.15153.ABSTRACTAIM: To determine the direct health service costs and resource utilization associated with diagnosing and characterizing idiopathic inflammatory myopathies (IIMs), and to assess for limitations and diagnostic delay in current practice.METHODS: A retrospective, single-center cohort analysis of all patients diagnosed with IIMs between January 2012 and December 2021 in a large tertiary public hospital was conducted. Demographics, resource utilization and costs associated with diagnosing IIM and characterizing disease manifestations were identified using the hospital's electronic medical record and Health Intelligence Unit, and the Medicare Benefits Schedule.RESULTS: Thirty-eight IIM patients were identified. IIM subtypes included dermatomyositis (34.2%), inclusion body myositis (18.4%), immune-mediated necrotizing myopathy (18.4%), polymyositis (15.8%), and anti-synthetase syndrome (13.2%). The median time from symptom onset to diagnosis was 212 days (IQR: 118-722), while the median time from hospital presentation to diagnosis was 30 days (8-120). Seventy-six percent of patients required emergent hospitalization during their diagnosis, with a median length of stay of 8 days (4-15). The average total cost of diagnosing IIM was $15 618 AUD (STD: 11331) per patient. Fifty percent of patients underwent both MRI and EMG to identify affected muscles, 10% underwent both pan-CT and PET-CT for malignancy detection, and 5% underwent both open surgical and percutaneous muscle biopsies. Autoimmune serology was unnecessarily repeated in 37% of patients.CONCLUSION: The diagnosis of IIMs requires substantial and costly resource use; however, our study has identified potential limitations in current practice and highlighted the need for streamlined diagnostic algorithms to improve patient outcomes and reduce healthcare-related economic burden.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38661316/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38661316</a> | DOI:<a href=https://doi.org/10.1111/1756-185X.15153>10.1111/1756-185X.15153</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38661316</guid>
<pubDate>Thu, 25 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Victoria Huang</dc:creator>
<dc:creator>Sabina Ciciriello</dc:creator>
<dc:creator>Mandana Nikpour</dc:creator>
<dc:creator>Shereen Oon</dc:creator>
<dc:creator>Jessica Day</dc:creator>
<dc:date>2024-04-25</dc:date>
<dc:source>International journal of rheumatic diseases</dc:source>
<dc:title>Diagnosing and characterizing inflammatory myopathies at an Australian tertiary public hospital: Resource utilization and direct healthcare costs</dc:title>
<dc:identifier>pmid:38661316</dc:identifier>
<dc:identifier>doi:10.1111/1756-185X.15153</dc:identifier>
</item>
<item>
<title>Recent research on home rehabilitation and nursing for spinal muscular atrophy</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38660908/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder. With the emergence of disease-modifying therapies, the prognosis of SMA has significantly improved, drawing increased attention to the importance of home rehabilitation and nursing management. Long-term, standardized home rehabilitation and nursing can delay the progression of SMA, enhance the psychological well-being, and improve the quality of life of both patients and caregivers. This article provides an overview...</description>
<content:encoded><![CDATA[<div>Zhongguo Dang Dai Er Ke Za Zhi. 2024 Apr 15;26(4):420-424. doi: 10.7499/j.issn.1008-8830.2310037.ABSTRACTSpinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder. With the emergence of disease-modifying therapies, the prognosis of SMA has significantly improved, drawing increased attention to the importance of home rehabilitation and nursing management. Long-term, standardized home rehabilitation and nursing can delay the progression of SMA, enhance the psychological well-being, and improve the quality of life of both patients and caregivers. This article provides an overview of the goals of home rehabilitation, basic functional training methods, respiratory management, and nutritional management for SMA patients, as well as psychological health issues, emphasizing the significance of obtaining appropriate home rehabilitation and support during the care process.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38660908/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38660908</a> | DOI:<a href=https://doi.org/10.7499/j.issn.1008-8830.2310037>10.7499/j.issn.1008-8830.2310037</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38660908</guid>
<pubDate>Thu, 25 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Ming-Yue Leng</dc:creator>
<dc:creator>Hong-Hao Peng</dc:creator>
<dc:creator>Zhi-Feng Wu</dc:creator>
<dc:date>2024-04-25</dc:date>
<dc:source>Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics</dc:source>
<dc:title>Recent research on home rehabilitation and nursing for spinal muscular atrophy</dc:title>
<dc:identifier>pmid:38660908</dc:identifier>
<dc:identifier>doi:10.7499/j.issn.1008-8830.2310037</dc:identifier>
</item>
<item>
<title>Association of the systemic immuno-inflammation index, neutrophil-to-lymphocyte ratio, and platelet-to-lymphocyte ratio with diabetic microvascular complications</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38660516/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>CONCLUSION: This study found a positive relationship between NLR and DN, DR, and DPN. In contrast, SII and PLR were found to be only associated with DN and DR. Therefore, for the diagnosis of diabetic microvascular complications, SII, NLR and PLR are highly valuable.</description>
<content:encoded><![CDATA[<div>Front Endocrinol (Lausanne). 2024 Apr 10;15:1367376. doi: 10.3389/fendo.2024.1367376. eCollection 2024.ABSTRACTBACKGROUND: The systemic immuno-inflammation index (SII), neutrophil-to-lymphocyte ratio (NLR), and platelet-to-lymphocyte ratio (PLR) are widely used and have been shown to be predictive indicators of various diseases. Diabetic nephropathy (DN), retinopathy (DR), and peripheral neuropathy (DPN) are the most prominent and common microvascular complications, which have seriously negative impacts on patients, families, and society. Exploring the associations with these three indicators and diabetic microvascular complications are the main purpose.METHODS: There were 1058 individuals with type 2 diabetes mellitus (T2DM) in this retrospective cross-sectional study. SII, NLR, and PLR were calculated. The diseases were diagnosed by endocrinologists. Logistic regression and subgroup analysis were applied to evaluate the association between SII, NLP, and PLR and diabetic microvascular complications.RESULTS: SII, NLR, and PLR were significantly associated with the risk of DN [odds ratios (ORs): 1.52, 1.71, and 1.60, respectively] and DR [ORs: 1.57, 1.79, and 1.55, respectively] by multivariate logistic regression. When NLR ≥2.66, the OR was significantly higher for the risk of DPN (OR: 1.985, 95% confidence interval: 1.29-3.05). Subgroup analysis showed no significant positive associations across different demographics and comorbidities, including sex, age, hypertension, HbA1c (glycated hemoglobin), and dyslipidemia.CONCLUSION: This study found a positive relationship between NLR and DN, DR, and DPN. In contrast, SII and PLR were found to be only associated with DN and DR. Therefore, for the diagnosis of diabetic microvascular complications, SII, NLR and PLR are highly valuable.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38660516/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38660516</a> | PMC:<a href="https://www.ncbi.nlm.nih.gov/pmc/PMC11039910/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">PMC11039910</a> | DOI:<a href=https://doi.org/10.3389/fendo.2024.1367376>10.3389/fendo.2024.1367376</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38660516</guid>
<pubDate>Thu, 25 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Jiahang Li</dc:creator>
<dc:creator>Xueying Wang</dc:creator>
<dc:creator>Wenjing Jia</dc:creator>
<dc:creator>Kai Wang</dc:creator>
<dc:creator>Wenju Wang</dc:creator>
<dc:creator>Weibo Diao</dc:creator>
<dc:creator>Feiya Ou</dc:creator>
<dc:creator>Jing Ma</dc:creator>
<dc:creator>Yan Yang</dc:creator>
<dc:date>2024-04-25</dc:date>
<dc:source>Frontiers in endocrinology</dc:source>
<dc:title>Association of the systemic immuno-inflammation index, neutrophil-to-lymphocyte ratio, and platelet-to-lymphocyte ratio with diabetic microvascular complications</dc:title>
<dc:identifier>pmid:38660516</dc:identifier>
<dc:identifier>pmc:PMC11039910</dc:identifier>
<dc:identifier>doi:10.3389/fendo.2024.1367376</dc:identifier>
</item>
<item>
<title>Research progress in the treatment of chronic fatigue syndrome through interventions targeting the hypothalamus-pituitary-adrenal axis</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38660512/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>Chronic fatigue syndrome (CFS) causes great harm to individuals and society. Elucidating the pathogenesis of CFS and developing safe and effective treatments are urgently needed. This paper reviews the functional changes in the hypothalamus-pituitary-adrenal (HPA) axis in patients with CFS and the associated neuroendocrine mechanisms. Despite some controversy, the current mainstream research evidence indicates that CFS patients have mild hypocortisolism, weakened daily variation in cortisol, a...</description>
<content:encoded><![CDATA[<div>Front Endocrinol (Lausanne). 2024 Apr 10;15:1373748. doi: 10.3389/fendo.2024.1373748. eCollection 2024.ABSTRACTChronic fatigue syndrome (CFS) causes great harm to individuals and society. Elucidating the pathogenesis of CFS and developing safe and effective treatments are urgently needed. This paper reviews the functional changes in the hypothalamus-pituitary-adrenal (HPA) axis in patients with CFS and the associated neuroendocrine mechanisms. Despite some controversy, the current mainstream research evidence indicates that CFS patients have mild hypocortisolism, weakened daily variation in cortisol, a weakened response to the HPA axis, and an increase in negative feedback of the HPA axis. The relationship between dysfunction of the HPA axis and the typical symptoms of CFS are discussed, and the current treatment methods are reviewed.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38660512/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38660512</a> | PMC:<a href="https://www.ncbi.nlm.nih.gov/pmc/PMC11039924/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">PMC11039924</a> | DOI:<a href=https://doi.org/10.3389/fendo.2024.1373748>10.3389/fendo.2024.1373748</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38660512</guid>
<pubDate>Thu, 25 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Yi-Dan Zhang</dc:creator>
<dc:creator>Li-Na Wang</dc:creator>
<dc:date>2024-04-25</dc:date>
<dc:source>Frontiers in endocrinology</dc:source>
<dc:title>Research progress in the treatment of chronic fatigue syndrome through interventions targeting the hypothalamus-pituitary-adrenal axis</dc:title>
<dc:identifier>pmid:38660512</dc:identifier>
<dc:identifier>pmc:PMC11039924</dc:identifier>
<dc:identifier>doi:10.3389/fendo.2024.1373748</dc:identifier>
</item>
<item>
<title>PLC-γ-Ca2+ pathway regulates axonal TrkB endocytosis and is required for long-distance propagation of BDNF signaling</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38660384/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>Brain-derived neurotrophic factor (BDNF) and its tropomyosin receptor kinase B (TrkB) are important signaling proteins that regulate dendritic growth and maintenance in the central nervous system (CNS). After binding of BDNF, TrkB is endocytosed into endosomes and continues signaling within the cell soma, dendrites, and axon. In previous studies, we showed that BDNF signaling initiated in axons triggers long-distance signaling, inducing dendritic arborization in a CREB-dependent manner in cell...</description>
<content:encoded><![CDATA[<div>Front Mol Neurosci. 2024 Apr 10;17:1009404. doi: 10.3389/fnmol.2024.1009404. eCollection 2024.ABSTRACTBrain-derived neurotrophic factor (BDNF) and its tropomyosin receptor kinase B (TrkB) are important signaling proteins that regulate dendritic growth and maintenance in the central nervous system (CNS). After binding of BDNF, TrkB is endocytosed into endosomes and continues signaling within the cell soma, dendrites, and axon. In previous studies, we showed that BDNF signaling initiated in axons triggers long-distance signaling, inducing dendritic arborization in a CREB-dependent manner in cell bodies, processes that depend on axonal dynein and TrkB activities. The binding of BDNF to TrkB triggers the activation of different signaling pathways, including the ERK, PLC-γ and PI3K-mTOR pathways, to induce dendritic growth and synaptic plasticity. How TrkB downstream pathways regulate long-distance signaling is unclear. Here, we studied the role of PLC-γ-Ca2+ in BDNF-induced long-distance signaling using compartmentalized microfluidic cultures. We found that dendritic branching and CREB phosphorylation induced by axonal BDNF stimulation require the activation of PLC-γ in the axons of cortical neurons. Locally, in axons, BDNF increases PLC-γ phosphorylation and induces intracellular Ca2+ waves in a PLC-γ-dependent manner. In parallel, we observed that BDNF-containing signaling endosomes transport to the cell body was dependent on PLC-γ activity and intracellular Ca2+ stores. Furthermore, the activity of PLC-γ is required for BDNF-dependent TrkB endocytosis, suggesting a role for the TrkB/PLC-γ signaling pathway in axonal signaling endosome formation.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38660384/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38660384</a> | PMC:<a href="https://www.ncbi.nlm.nih.gov/pmc/PMC11040097/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">PMC11040097</a> | DOI:<a href=https://doi.org/10.3389/fnmol.2024.1009404>10.3389/fnmol.2024.1009404</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38660384</guid>
<pubDate>Thu, 25 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Guillermo Moya-Alvarado</dc:creator>
<dc:creator>Xavier Valero-Peña</dc:creator>
<dc:creator>Alejandro Aguirre-Soto</dc:creator>
<dc:creator>Fernando J Bustos</dc:creator>
<dc:creator>Oscar M Lazo</dc:creator>
<dc:creator>Francisca C Bronfman</dc:creator>
<dc:date>2024-04-25</dc:date>
<dc:source>Frontiers in molecular neuroscience</dc:source>
<dc:title>PLC-γ-Ca2+ pathway regulates axonal TrkB endocytosis and is required for long-distance propagation of BDNF signaling</dc:title>
<dc:identifier>pmid:38660384</dc:identifier>
<dc:identifier>pmc:PMC11040097</dc:identifier>
<dc:identifier>doi:10.3389/fnmol.2024.1009404</dc:identifier>
</item>
<item>
<title>The relationship between infectious agents and juvenile dermatomyositis: a narrative update from the pediatric perspective</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38660309/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>Juvenile dermatomyositis (JDM) is the most common inflammatory myopathy affecting children, being marked by chronic inflammation which mostly impacts on both skin and skeletal muscles; diagnostic criteria of JDM include an unforeseeable mixture of clinical features, while treatment modalities commonly require corticosteroids or immunosuppressant agents. Although the pathogenesis of JDM is not completely understood, several infectious triggers have been linked to its priming via anecdotal reports...</description>
<content:encoded><![CDATA[<div>Front Immunol. 2024 Apr 10;15:1377952. doi: 10.3389/fimmu.2024.1377952. eCollection 2024.ABSTRACTJuvenile dermatomyositis (JDM) is the most common inflammatory myopathy affecting children, being marked by chronic inflammation which mostly impacts on both skin and skeletal muscles; diagnostic criteria of JDM include an unforeseeable mixture of clinical features, while treatment modalities commonly require corticosteroids or immunosuppressant agents. Although the pathogenesis of JDM is not completely understood, several infectious triggers have been linked to its priming via anecdotal reports related to children. Pediatric cases of recent-onset JDM have been temporally associated to an infectious disease by the power of increased titers of circulating antibodies to a putative infectious agent, including parasites, and/or detectable viral RNA or bacterial DNA. With this narrative review we offer an update about JDM association with a host of infections, namely parvovirus B19, Epstein-Barr virus, Coxsackie virus, human immune deficiency virus, severe acute respiratory syndrome coronavirus 2, Mycoplasma pneumoniae and Toxoplasma gondii, as resulting from the medical literature. Few are the evidence-proved results addressing JDM as an unambiguous post-infectious disorder and available data specifically related to children are poor, highlighting the need of further research into the exploration between environmental cut-out factors and JDM.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38660309/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38660309</a> | PMC:<a href="https://www.ncbi.nlm.nih.gov/pmc/PMC11039888/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">PMC11039888</a> | DOI:<a href=https://doi.org/10.3389/fimmu.2024.1377952>10.3389/fimmu.2024.1377952</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38660309</guid>
<pubDate>Thu, 25 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Chiara Sassetti</dc:creator>
<dc:creator>Claudia Borrelli</dc:creator>
<dc:creator>Martha Mazuy</dc:creator>
<dc:creator>Ida Turrini</dc:creator>
<dc:creator>Donato Rigante</dc:creator>
<dc:creator>Susanna Esposito</dc:creator>
<dc:date>2024-04-25</dc:date>
<dc:source>Frontiers in immunology</dc:source>
<dc:title>The relationship between infectious agents and juvenile dermatomyositis: a narrative update from the pediatric perspective</dc:title>
<dc:identifier>pmid:38660309</dc:identifier>
<dc:identifier>pmc:PMC11039888</dc:identifier>
<dc:identifier>doi:10.3389/fimmu.2024.1377952</dc:identifier>
</item>
<item>
<title>A Bibliometric Analysis of Study of Associations of Certain Genotypes with the Cardiovascular Form of Diabetic Neuropathy</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38659608/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>This bibliometric analysis explores the landscape of research on the associations between specific genotypes and the cardiovascular form of diabetic neuropathy. Diabetes mellitus (DM) is a major contributor to premature mortality, primarily due to increased susceptibility to cardiovascular diseases. The global prevalence of DM is rising, with projections indicating further increases. Diabetic neuropathy, a complication of DM, includes the cardiovascular subtype, posing challenges in diagnosis...</description>
<content:encoded><![CDATA[<div>Biomed Res Int. 2024 Apr 15;2024:6761451. doi: 10.1155/2024/6761451. eCollection 2024.ABSTRACTThis bibliometric analysis explores the landscape of research on the associations between specific genotypes and the cardiovascular form of diabetic neuropathy. Diabetes mellitus (DM) is a major contributor to premature mortality, primarily due to increased susceptibility to cardiovascular diseases. The global prevalence of DM is rising, with projections indicating further increases. Diabetic neuropathy, a complication of DM, includes the cardiovascular subtype, posing challenges in diagnosis and management. Understanding the genetic basis of cardiovascular diabetic neuropathy is crucial for targeted therapeutic interventions. The study utilizes bibliometric analysis to synthesize existing literature, identify trends, and guide future research. The Scopus database was searched, applying inclusion criteria for English articles related to genotypes and cardiovascular diabetic neuropathy. The analysis reveals a dynamic field with a notable impact, collaborative efforts, and multidimensional aspects. Publication trends over 1997-2023 demonstrate fluctuating research intensity. Top journals, authors, and affiliations are highlighted, emphasizing global contributions. Keyword analysis reveals thematic trends, and citation analysis identifies influential documents. Limitations include database biases, incomplete metadata, and search query specificity. The urgent need to explore genetic factors in cardiovascular diabetic neuropathy aligns with the increasing global diabetes burden. This analysis provides a comprehensive overview, contributing to the broader discourse on diabetic neuropathy research.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38659608/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38659608</a> | PMC:<a href="https://www.ncbi.nlm.nih.gov/pmc/PMC11042907/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">PMC11042907</a> | DOI:<a href=https://doi.org/10.1155/2024/6761451>10.1155/2024/6761451</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38659608</guid>
<pubDate>Thu, 25 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Nazira B Bekenova</dc:creator>
<dc:creator>Tamara A Vochshenkova</dc:creator>
<dc:creator>Nurgul Ablakimova</dc:creator>
<dc:creator>Aliya Zhylkybekova</dc:creator>
<dc:creator>Nadiar M Mussin</dc:creator>
<dc:creator>Rustam K Albayev</dc:creator>
<dc:creator>Asset A Kaliyev</dc:creator>
<dc:creator>Amin Tamadon</dc:creator>
<dc:date>2024-04-25</dc:date>
<dc:source>BioMed research international</dc:source>
<dc:title>A Bibliometric Analysis of Study of Associations of Certain Genotypes with the Cardiovascular Form of Diabetic Neuropathy</dc:title>
<dc:identifier>pmid:38659608</dc:identifier>
<dc:identifier>pmc:PMC11042907</dc:identifier>
<dc:identifier>doi:10.1155/2024/6761451</dc:identifier>
</item>
<item>
<title>Mendelian randomization and colocalization analysis reveal novel drug targets for myasthenia gravis</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38659056/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>CONCLUSIONS: Three drug targets associated with the BLyS/APRIL pathway have been identified. Multiple biological agents, including telitacicept and belimumab, are promising for MG therapy.</description>
<content:encoded><![CDATA[<div>Hum Genomics. 2024 Apr 24;18(1):43. doi: 10.1186/s40246-024-00607-7.ABSTRACTOBJECTIVE: Myasthenia gravis (MG) is a complex autoimmune disease affecting the neuromuscular junction with limited drug options, but the field of MG treatment recently benefits from novel biological agents. We performed a drug-targeted Mendelian randomization (MR) study to identify novel therapeutic targets of MG.METHODS: Cis-expression quantitative loci (cis-eQTL), which proxy expression levels for 2176 druggable genes, were used for MR analysis. Causal relationships between genes and disease, identified by eQTL MR analysis, were verified by comprehensive sensitivity, colocalization, and protein quantitative loci (pQTL) MR analyses. The protein-protein interaction (PPI) analysis was also performed to extend targets, followed by enzyme-linked immunosorbent assay (ELISA) to explore the serum level of drug targets in MG patients. A phenome-wide MR analysis was then performed to assess side effects with a clinical trial review assessing druggability.RESULTS: The eQTL MR analysis has identified eight potential targets for MG, one for early-onset MG and seven for late-onset MG. Further colocalization analyses indicated that CD226, CDC42BPB, PRSS36, and TNFSF12 possess evidence for colocalization with MG or late-onset MG. pQTL MR analyses identified the causal relations of TNFSF12 and CD226 with MG and late-onset MG. Furthermore, PPI analysis has revealed the protein interaction between TNFSF12-TNFSF13(APRIL) and TNFSF12-TNFSF13B(BLyS). Elevated TNFSF13 serum level of MG patients was also identified by ELISA experiments. This study has ultimately proposed three promising therapeutic targets (TNFSF12, TNFSF13, TNFSF13B) of MG.CONCLUSIONS: Three drug targets associated with the BLyS/APRIL pathway have been identified. Multiple biological agents, including telitacicept and belimumab, are promising for MG therapy.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38659056/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38659056</a> | DOI:<a href=https://doi.org/10.1186/s40246-024-00607-7>10.1186/s40246-024-00607-7</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38659056</guid>
<pubDate>Wed, 24 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Yuzhen Ouyang</dc:creator>
<dc:creator>Yu Chen</dc:creator>
<dc:creator>Kangzhi Chen</dc:creator>
<dc:creator>Zhenwei Tang</dc:creator>
<dc:creator>Guanzhong Shi</dc:creator>
<dc:creator>Chunrun Qu</dc:creator>
<dc:creator>Kaiyue Zhang</dc:creator>
<dc:creator>Huan Yang</dc:creator>
<dc:date>2024-04-24</dc:date>
<dc:source>Human genomics</dc:source>
<dc:title>Mendelian randomization and colocalization analysis reveal novel drug targets for myasthenia gravis</dc:title>
<dc:identifier>pmid:38659056</dc:identifier>
<dc:identifier>doi:10.1186/s40246-024-00607-7</dc:identifier>
</item>
<item>
<title>Human-centered design of a novel soft exosuit for post-stroke gait rehabilitation</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38658969/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>CONCLUSION: This study successfully establishes the proof-of-concept for a human-centered design approach using design sprints to rapidly develop a stroke-specific gait rehabilitation system. Future research should focus on evaluating the clinical efficacy and effectiveness of the NewGait device for post-stroke rehabilitation.</description>
<content:encoded><![CDATA[<div>J Neuroeng Rehabil. 2024 Apr 24;21(1):62. doi: 10.1186/s12984-024-01356-3.ABSTRACTBACKGROUND: Stroke remains a major cause of long-term adult disability in the United States, necessitating the need for effective rehabilitation strategies for post-stroke gait impairments. Despite advancements in post-stroke care, existing rehabilitation often falls short, prompting the development of devices like robots and exoskeletons. However, these technologies often lack crucial input from end-users, such as clinicians, patients, and caregivers, hindering their clinical utility. Employing a human-centered design approach can enhance the design process and address user-specific needs.OBJECTIVE: To establish a proof-of-concept of the human-centered design approach by refining the NewGait® exosuit device for post-stroke gait rehabilitation.METHODS: Using iterative design sprints, the research focused on understanding the perspectives of clinicians, stroke survivors, and caregivers. Two design sprints were conducted, including empathy interviews at the beginning of the design sprint to integrate end-users' insights. After each design sprint, the NewGait device underwent refinements based on emerging issues and recommendations. The final prototype underwent mechanical testing for durability, biomechanical simulation testing for clinical feasibility, and a system usability evaluation, where the new stroke-specific NewGait device was compared with the original NewGait device and a commercial product, Theratogs®.RESULTS: Affinity mapping from the design sprints identified crucial categories for stakeholder adoption, including fit for females, ease of donning and doffing, and usability during barefoot walking. To address these issues, a system redesign was implemented within weeks, incorporating features like a loop-backed neoprene, a novel closure mechanism for the shoulder harness, and a hook-and-loop design for the waist belt. Additional improvements included reconstructing anchors with rigid hook materials and replacing latex elastic bands with non-latex silicone-based bands for enhanced durability. Further, changes to the dorsiflexion anchor were made to allow for barefoot walking. Mechanical testing revealed a remarkable 10-fold increase in durability, enduring 500,000 cycles without notable degradation. Biomechanical simulation established the modularity of the NewGait device and indicated that it could be configured to assist or resist different muscles during walking. Usability testing indicated superior performance of the stroke-specific NewGait device, scoring 84.3 on the system usability scale compared to 62.7 for the original NewGait device and 46.9 for Theratogs.CONCLUSION: This study successfully establishes the proof-of-concept for a human-centered design approach using design sprints to rapidly develop a stroke-specific gait rehabilitation system. Future research should focus on evaluating the clinical efficacy and effectiveness of the NewGait device for post-stroke rehabilitation.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38658969/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38658969</a> | DOI:<a href=https://doi.org/10.1186/s12984-024-01356-3>10.1186/s12984-024-01356-3</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38658969</guid>
<pubDate>Wed, 24 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Chandramouli Krishnan</dc:creator>
<dc:creator>Olugbenga P Adeeko</dc:creator>
<dc:creator>Edward Peter Washabaugh</dc:creator>
<dc:creator>Thomas E Augenstein</dc:creator>
<dc:creator>Maureen Brudzinski</dc:creator>
<dc:creator>Alyssa Portelli</dc:creator>
<dc:creator>Claire Zabelle Kalpakjian</dc:creator>
<dc:date>2024-04-24</dc:date>
<dc:source>Journal of neuroengineering and rehabilitation</dc:source>
<dc:title>Human-centered design of a novel soft exosuit for post-stroke gait rehabilitation</dc:title>
<dc:identifier>pmid:38658969</dc:identifier>
<dc:identifier>doi:10.1186/s12984-024-01356-3</dc:identifier>
</item>
<item>
<title>Neurotrophin-associated mechanisms of delayed-onset muscle soreness: research progress and perspective</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38658378/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>Delayed-onset muscle soreness (DOMS) is a common phenomenon that occurs following a sudden increase in exercise intensity or unfamiliar exercise, significantly affecting athletic performance and efficacy in athletes and fitness individuals. DOMS is characterized by allodynia and hyperalgesia, and their mechanisms remain unclear. Recent studies have reported that neurotrophic factors, such as nerve growth factor (NGF) and glial cell derived neurotrophic factor (GDNF), are involved in the...</description>
<content:encoded><![CDATA[<div>Sheng Li Xue Bao. 2024 Apr 25;76(2):301-308.ABSTRACTDelayed-onset muscle soreness (DOMS) is a common phenomenon that occurs following a sudden increase in exercise intensity or unfamiliar exercise, significantly affecting athletic performance and efficacy in athletes and fitness individuals. DOMS is characterized by allodynia and hyperalgesia, and their mechanisms remain unclear. Recent studies have reported that neurotrophic factors, such as nerve growth factor (NGF) and glial cell derived neurotrophic factor (GDNF), are involved in the development and maintenance of DOMS. This article provides a review of the research progress on the signaling pathways related to the involvement of NGF and GDNF in DOMS, hoping to provide novel insights into the mechanisms underlying allodynia and hyperalgesia in DOMS, as well as potential targeted treatment.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38658378/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38658378</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38658378</guid>
<pubDate>Wed, 24 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Yun-Xiao Liu</dc:creator>
<dc:creator>Jing Lei</dc:creator>
<dc:creator>Hao-Jun You</dc:creator>
<dc:date>2024-04-24</dc:date>
<dc:source>Sheng li xue bao : [Acta physiologica Sinica]</dc:source>
<dc:title>Neurotrophin-associated mechanisms of delayed-onset muscle soreness: research progress and perspective</dc:title>
<dc:identifier>pmid:38658378</dc:identifier>
</item>
<item>
<title>Effect of epicatechin consumption on the inflammatory pathway and mitochondria morphology in PBMC from a R350P desminopathy patient: A case report</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38658362/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>Desminopathy R350P is a human myopathy that is characterized by the progressive loss of muscle fiber organization. This results in the loss of muscle size, mobility, and strength. In desminopathy, inflammation affects muscle homeostasis and repair, and contributes to progressive muscle deterioration. Mitochondria morphology was also suggested to affect desminopathy progression. Epicatechin (Epi)-a natural compound found in cacao-has been proposed to regulate inflammatory signaling and...</description>
<content:encoded><![CDATA[<div>Physiol Rep. 2024 Apr;12(8):e16020. doi: 10.14814/phy2.16020.ABSTRACTDesminopathy R350P is a human myopathy that is characterized by the progressive loss of muscle fiber organization. This results in the loss of muscle size, mobility, and strength. In desminopathy, inflammation affects muscle homeostasis and repair, and contributes to progressive muscle deterioration. Mitochondria morphology was also suggested to affect desminopathy progression. Epicatechin (Epi)-a natural compound found in cacao-has been proposed to regulate inflammatory signaling and mitochondria morphology in human and animal models. Hence, we hypothesize chronic Epi consumption to improve inflammatory pathway and mitochondria morphology in the peripheral blood mononuclear cells (PBMCs) of a desminopathy R350P patient. We found that 12 weeks of Epi consumption partially restored TRL4 signaling, indicative of inflammatory signaling and mitochondria morphology in the desminopathy patient. Moreover, Epi consumption improved blood health parameters, including reduced HOMA-IR and IL-6 levels in the desminopathy patient. This indicates that Epi consumption could be a useful tool to slow disease progression in desminopathy patients.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38658362/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38658362</a> | PMC:<a href="https://www.ncbi.nlm.nih.gov/pmc/PMC11043034/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">PMC11043034</a> | DOI:<a href=https://doi.org/10.14814/phy2.16020>10.14814/phy2.16020</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38658362</guid>
<pubDate>Wed, 24 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Germán Tapia-Curimil</dc:creator>
<dc:creator>Mauricio Castro-Sepulveda</dc:creator>
<dc:creator>Hermann Zbinden-Foncea</dc:creator>
<dc:date>2024-04-24</dc:date>
<dc:source>Physiological reports</dc:source>
<dc:title>Effect of epicatechin consumption on the inflammatory pathway and mitochondria morphology in PBMC from a R350P desminopathy patient: A case report</dc:title>
<dc:identifier>pmid:38658362</dc:identifier>
<dc:identifier>pmc:PMC11043034</dc:identifier>
<dc:identifier>doi:10.14814/phy2.16020</dc:identifier>
</item>
<item>
<title>Right ventricular preload and afterload challenge induces contractile dysfunction and arrhythmia in isolated hearts of dystrophin-deficient male mice</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38658324/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>Duchenne muscular dystrophy (DMD) is an X-linked recessive myopathy due to mutations in the dystrophin gene. Diaphragmatic weakness in DMD causes hypoventilation and elevated afterload on the right ventricle (RV). Thus, RV dysfunction in DMD develops early in disease progression. Herein, we deliver a 30-min sustained RV preload/afterload challenge to isolated hearts of wild-type (Wt) and dystrophic (Dmd^(mdx-4Cv)) mice at both young (2-6 month) and middle-age (8-12 month) to test the hypothesis...</description>
<content:encoded><![CDATA[<div>Physiol Rep. 2024 Apr;12(8):e16004. doi: 10.14814/phy2.16004.ABSTRACTDuchenne muscular dystrophy (DMD) is an X-linked recessive myopathy due to mutations in the dystrophin gene. Diaphragmatic weakness in DMD causes hypoventilation and elevated afterload on the right ventricle (RV). Thus, RV dysfunction in DMD develops early in disease progression. Herein, we deliver a 30-min sustained RV preload/afterload challenge to isolated hearts of wild-type (Wt) and dystrophic (Dmdmdx-4Cv) mice at both young (2-6 month) and middle-age (8-12 month) to test the hypothesis that the dystrophic RV is susceptible to dysfunction with elevated load. Young dystrophic hearts exhibited greater pressure development than wild type under baseline (Langendorff) conditions, but following RV challenge exhibited similar contractile function as wild type. Following the RV challenge, young dystrophic hearts had an increased incidence of premature ventricular contractions (PVCs) compared to wild type. Hearts of middle-aged wild-type and dystrophic mice had similar contractile function during baseline conditions. After RV challenge, hearts of middle-aged dystrophic mice had severe RV dysfunction and arrhythmias, including ventricular tachycardia. Following the RV load challenge, dystrophic hearts had greater lactate dehydrogenase (LDH) release than wild-type mice indicative of damage. Our data indicate age-dependent changes in RV function with load in dystrophin deficiency, highlighting the need to avoid sustained RV load to forestall dysfunction and arrhythmia.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38658324/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38658324</a> | PMC:<a href="https://www.ncbi.nlm.nih.gov/pmc/PMC11043033/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">PMC11043033</a> | DOI:<a href=https://doi.org/10.14814/phy2.16004>10.14814/phy2.16004</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38658324</guid>
<pubDate>Wed, 24 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Andrew Behrmann</dc:creator>
<dc:creator>Jessica Cayton</dc:creator>
<dc:creator>Matthew R Hayden</dc:creator>
<dc:creator>Michelle D Lambert</dc:creator>
<dc:creator>Zahra Nourian</dc:creator>
<dc:creator>Keith Nyanyo</dc:creator>
<dc:creator>Brooke Godbee</dc:creator>
<dc:creator>Laurin M Hanft</dc:creator>
<dc:creator>Maike Krenz</dc:creator>
<dc:creator>Kerry S McDonald</dc:creator>
<dc:creator>Timothy L Domeier</dc:creator>
<dc:date>2024-04-24</dc:date>
<dc:source>Physiological reports</dc:source>
<dc:title>Right ventricular preload and afterload challenge induces contractile dysfunction and arrhythmia in isolated hearts of dystrophin-deficient male mice</dc:title>
<dc:identifier>pmid:38658324</dc:identifier>
<dc:identifier>pmc:PMC11043033</dc:identifier>
<dc:identifier>doi:10.14814/phy2.16004</dc:identifier>
</item>
<item>
<title>Peru: 47 year old woman with polymyositis becomes country's first person to die with medical assistance</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38658038/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>No abstract</description>
<content:encoded><![CDATA[<div>BMJ. 2024 Apr 24;385:q941. doi: 10.1136/bmj.q941.NO ABSTRACTPMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38658038/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38658038</a> | DOI:<a href=https://doi.org/10.1136/bmj.q941>10.1136/bmj.q941</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38658038</guid>
<pubDate>Wed, 24 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Luke Taylor</dc:creator>
<dc:date>2024-04-24</dc:date>
<dc:source>BMJ (Clinical research ed.)</dc:source>
<dc:title>Peru: 47 year old woman with polymyositis becomes country's first person to die with medical assistance</dc:title>
<dc:identifier>pmid:38658038</dc:identifier>
<dc:identifier>doi:10.1136/bmj.q941</dc:identifier>
</item>
<item>
<title>A review regarding the article 'Advances and Challenges in the Diagnosis and Management of Left Ventricular Noncompaction in Adults.'</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38657722/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>Left ventricular noncompaction (LVNC) is a rare genetic and congenital disorder characterized by the excessive formation of blood-filled trabeculae and intertrabecular recesses in the uncompressed inner endocardial wall associated with a thin, compact wall, the mesocardium. Although LVNC was described for the first time as long ago as 1984, our understanding of the disease with regard to its genetic pattern, diagnosis, clinical presentation, and treatment is still scanty. LVNC can be present as...</description>
<content:encoded><![CDATA[<div>Curr Probl Cardiol. 2024 Apr 22:102582. doi: 10.1016/j.cpcardiol.2024.102582. Online ahead of print.ABSTRACTLeft ventricular noncompaction (LVNC) is a rare genetic and congenital disorder characterized by the excessive formation of blood-filled trabeculae and intertrabecular recesses in the uncompressed inner endocardial wall associated with a thin, compact wall, the mesocardium. Although LVNC was described for the first time as long ago as 1984, our understanding of the disease with regard to its genetic pattern, diagnosis, clinical presentation, and treatment is still scanty. LVNC can be present as an isolated condition or associated with congenital heart disease, genetic syndromes, or neuromuscular disease. This suggests that LVNC is not a distinct form of cardiomyopathy, but rather a morphological expression of different diseases. Recognition of the disease is of fundamental importance because its clinical manifestations are variable, ranging from the absence of any symptom to congestive heart failure, lethal arrhythmias, and thromboembolic events. The main cardiac symptoms associated with LVNC are related to HF, occurring in up to half of the patients. Atrial fibrillation can affect 25% of adult patients and ventricular tachyarrhythmias up to around 50%. There is a possible association between bradycardia and Wolff-Parkinson-White syndrome in pediatric patients with LVNC. Other frequent manifestations are related to thromboembolic events, such as stroke, pulmonary embolism, and mesenteric ischemia. In asymptomatic patients, LVNC is identified by echocardiography or when the patient is subjected to family screening. However, when the disease is identified during the fetal period, the presence of systemic diseases, such as mitochondrial alterations and metabolic disorders, is frequently reported.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38657722/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38657722</a> | DOI:<a href=https://doi.org/10.1016/j.cpcardiol.2024.102582>10.1016/j.cpcardiol.2024.102582</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38657722</guid>
<pubDate>Wed, 24 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Xiaoying Huang</dc:creator>
<dc:creator>Qingsheng Niu</dc:creator>
<dc:creator>Yaowen Jiang</dc:creator>
<dc:date>2024-04-24</dc:date>
<dc:source>Current problems in cardiology</dc:source>
<dc:title>A review regarding the article 'Advances and Challenges in the Diagnosis and Management of Left Ventricular Noncompaction in Adults.'</dc:title>
<dc:identifier>pmid:38657722</dc:identifier>
<dc:identifier>doi:10.1016/j.cpcardiol.2024.102582</dc:identifier>
</item>
<item>
<title>Filamin C-Associated Nemaline Myopathy</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38657199/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>No abstract</description>
<content:encoded><![CDATA[<div>Neurology. 2024 May;102(10):e209477. doi: 10.1212/WNL.0000000000209477. Epub 2024 Apr 24.NO ABSTRACTPMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38657199/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38657199</a> | DOI:<a href=https://doi.org/10.1212/WNL.0000000000209477>10.1212/WNL.0000000000209477</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38657199</guid>
<pubDate>Wed, 24 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Ibrahim Shammas</dc:creator>
<dc:creator>Reem Alhammad</dc:creator>
<dc:creator>Elie Naddaf</dc:creator>
<dc:date>2024-04-24</dc:date>
<dc:source>Neurology</dc:source>
<dc:title>Filamin C-Associated Nemaline Myopathy</dc:title>
<dc:identifier>pmid:38657199</dc:identifier>
<dc:identifier>doi:10.1212/WNL.0000000000209477</dc:identifier>
</item>
<item>
<title>Discussion: Predictors and Variation in Steroid Injection Use for Carpal Tunnel Syndrome from a Multicenter Quality Collaborative</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38657009/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>No abstract</description>
<content:encoded><![CDATA[<div>Plast Reconstr Surg. 2024 May 1;153(5):1083-1084. doi: 10.1097/PRS.0000000000011218. Epub 2024 Apr 22.NO ABSTRACTPMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38657009/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38657009</a> | DOI:<a href=https://doi.org/10.1097/PRS.0000000000011218>10.1097/PRS.0000000000011218</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38657009</guid>
<pubDate>Wed, 24 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Justin C McCarty</dc:creator>
<dc:creator>Kyle R Eberlin</dc:creator>
<dc:date>2024-04-24</dc:date>
<dc:source>Plastic and reconstructive surgery</dc:source>
<dc:title>Discussion: Predictors and Variation in Steroid Injection Use for Carpal Tunnel Syndrome from a Multicenter Quality Collaborative</dc:title>
<dc:identifier>pmid:38657009</dc:identifier>
<dc:identifier>doi:10.1097/PRS.0000000000011218</dc:identifier>
</item>
<item>
<title>Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38656662/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>CONCLUSIONS: These results emphasize that the interpretation of a single MCID or MDC value obtained in large cohorts with different functional status needs to be made with caution, especially when these may be used to assess possible responses to new therapies.</description>
<content:encoded><![CDATA[<div>Eur J Neurol. 2024 Apr 24:e16309. doi: 10.1111/ene.16309. Online ahead of print.ABSTRACTBACKGROUND AND PURPOSE: Spinal muscular atrophy (SMA) is a rare and progressive neuromuscular disorder with varying severity levels. The aim of the study was to calculate minimal clinically important difference (MCID), minimal detectable change (MDC), and values for the Hammersmith Functional Motor Scale Expanded (HFMSE) in an untreated international SMA cohort.METHODS: The study employed two distinct methods. MDC was calculated using distribution-based approaches to consider standard error of measurement and effect size change in a population of 321 patients (176 SMA II and 145 SMA III), allowing for stratification based on age and function. MCID was assessed using anchor-based methods (receiver operating characteristic [ROC] curve analysis and standard error) on 76 patients (52 SMA II and 24 SMA III) for whom the 12-month HFMSE could be anchored to a caregiver-reported clinical perception questionnaire.RESULTS: With both approaches, SMA type II and type III patients had different profiles. The MCID, using ROC analysis, identified optimal cutoff points of -2 for type II and -4 for type III patients, whereas using the standard error we found the optimal cutoff points to be 1.5 for improvement and -3.2 for deterioration. Furthermore, distribution-based methods uncovered varying values across age and functional status subgroups within each SMA type.CONCLUSIONS: These results emphasize that the interpretation of a single MCID or MDC value obtained in large cohorts with different functional status needs to be made with caution, especially when these may be used to assess possible responses to new therapies.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38656662/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38656662</a> | DOI:<a href=https://doi.org/10.1111/ene.16309>10.1111/ene.16309</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38656662</guid>
<pubDate>Wed, 24 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Giorgia Coratti</dc:creator>
<dc:creator>Francesca Bovis</dc:creator>
<dc:creator>Maria Carmela Pera</dc:creator>
<dc:creator>Mariacristina Scoto</dc:creator>
<dc:creator>Jacqueline Montes</dc:creator>
<dc:creator>Amy Pasternak</dc:creator>
<dc:creator>Anna Mayhew</dc:creator>
<dc:creator>Robert Muni-Lofra</dc:creator>
<dc:creator>Tina Duong</dc:creator>
<dc:creator>Annemarie Rohwer</dc:creator>
<dc:creator>Sally Dunaway Young</dc:creator>
<dc:creator>Matthew Civitello</dc:creator>
<dc:creator>Francesca Salmin</dc:creator>
<dc:creator>Irene Mizzoni</dc:creator>
<dc:creator>Simone Morando</dc:creator>
<dc:creator>Marika Pane</dc:creator>
<dc:creator>Emilio Albamonte</dc:creator>
<dc:creator>Adele D'Amico</dc:creator>
<dc:creator>Noemi Brolatti</dc:creator>
<dc:creator>Maria Sframeli</dc:creator>
<dc:creator>Chiara Marini-Bettolo</dc:creator>
<dc:creator>Valeria Ada Sansone</dc:creator>
<dc:creator>Claudio Bruno</dc:creator>
<dc:creator>Sonia Messina</dc:creator>
<dc:creator>Enrico Bertini</dc:creator>
<dc:creator>Giovanni Baranello</dc:creator>
<dc:creator>John Day</dc:creator>
<dc:creator>Basil T Darras</dc:creator>
<dc:creator>Darryl C De Vivo</dc:creator>
<dc:creator>Michio Hirano</dc:creator>
<dc:creator>Francesco Muntoni</dc:creator>
<dc:creator>Richard Finkel</dc:creator>
<dc:creator>Eugenio Mercuri</dc:creator>
<dc:creator>ISMAC group</dc:creator>
<dc:date>2024-04-24</dc:date>
<dc:source>European journal of neurology</dc:source>
<dc:title>Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study</dc:title>
<dc:identifier>pmid:38656662</dc:identifier>
<dc:identifier>doi:10.1111/ene.16309</dc:identifier>
</item>
<item>
<title>Genetic therapies and respiratory outcomes in patients with neuromuscular disease</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38655811/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>PURPOSE OF REVIEW: Genetic therapies made a significant impact to the clinical course of patients with spinal muscular atrophy and Duchenne muscular dystrophy. Clinicians and therapists who care for these patients want to know the changes in respiratory sequelae and implications for clinical care for treated patients.</description>
<content:encoded><![CDATA[<div>Curr Opin Pediatr. 2024 Jun 1;36(3):296-303. doi: 10.1097/MOP.0000000000001352. Epub 2024 Apr 8.ABSTRACTPURPOSE OF REVIEW: Genetic therapies made a significant impact to the clinical course of patients with spinal muscular atrophy and Duchenne muscular dystrophy. Clinicians and therapists who care for these patients want to know the changes in respiratory sequelae and implications for clinical care for treated patients.RECENT FINDINGS: Different genetic therapy approaches have been developed to replace the deficient protein product in spinal muscular atrophy and Duchenne muscular dystrophy. The natural history of these conditions needed to be understood in order to design clinical trials. Respiratory parameters were not the primary outcome measures for the clinical trials. The impact of these therapies is described in subsequent clinical trial reports or real-world data.SUMMARY: Genetic therapies are able to stabilize or improve the respiratory sequelae in patients with spinal muscular atrophy and Duchenne muscular dystrophy. Standardized reporting of these outcomes is needed to help inform the future revisions of clinical standards of care and practice guidelines.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38655811/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38655811</a> | DOI:<a href=https://doi.org/10.1097/MOP.0000000000001352>10.1097/MOP.0000000000001352</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38655811</guid>
<pubDate>Wed, 24 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Diana Chen</dc:creator>
<dc:creator>Jeff Ni</dc:creator>
<dc:creator>MyMy Buu</dc:creator>
<dc:date>2024-04-24</dc:date>
<dc:source>Current opinion in pediatrics</dc:source>
<dc:title>Genetic therapies and respiratory outcomes in patients with neuromuscular disease</dc:title>
<dc:identifier>pmid:38655811</dc:identifier>
<dc:identifier>doi:10.1097/MOP.0000000000001352</dc:identifier>
</item>
<item>
<title>Taurine activates the AKT-mTOR axis to restore muscle mass and contractile strength in human 3D in vitro models of steroid myopathy</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38655653/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>Steroid myopathy is a clinically challenging condition exacerbated by prolonged corticosteroid use or adrenal tumors. In this study, we engineered a functional three-dimensional (3D) in vitro skeletal muscle model to investigate steroid myopathy. By subjecting our bioengineered muscle tissues to dexamethasone treatment, we reproduced the molecular and functional aspects of this disease. Dexamethasone caused a substantial reduction in muscle force, myotube diameter and induced fatigue. We...</description>
<content:encoded><![CDATA[<div>Dis Model Mech. 2024 Apr 1;17(4):dmm050540. doi: 10.1242/dmm.050540. Epub 2024 Apr 24.ABSTRACTSteroid myopathy is a clinically challenging condition exacerbated by prolonged corticosteroid use or adrenal tumors. In this study, we engineered a functional three-dimensional (3D) in vitro skeletal muscle model to investigate steroid myopathy. By subjecting our bioengineered muscle tissues to dexamethasone treatment, we reproduced the molecular and functional aspects of this disease. Dexamethasone caused a substantial reduction in muscle force, myotube diameter and induced fatigue. We observed nuclear translocation of the glucocorticoid receptor (GCR) and activation of the ubiquitin-proteasome system within our model, suggesting their coordinated role in muscle atrophy. We then examined the therapeutic potential of taurine in our 3D model for steroid myopathy. Our findings revealed an upregulation of phosphorylated AKT by taurine, effectively countering the hyperactivation of the ubiquitin-proteasomal pathway. Importantly, we demonstrate that discontinuing corticosteroid treatment was insufficient to restore muscle mass and function. Taurine treatment, when administered concurrently with corticosteroids, notably enhanced contractile strength and protein turnover by upregulating the AKT-mTOR axis. Our model not only identifies a promising therapeutic target, but also suggests combinatorial treatment that may benefit individuals undergoing corticosteroid treatment or those diagnosed with adrenal tumors.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38655653/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38655653</a> | DOI:<a href=https://doi.org/10.1242/dmm.050540>10.1242/dmm.050540</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38655653</guid>
<pubDate>Wed, 24 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Sheeza Mughal</dc:creator>
<dc:creator>Maria Sabater-Arcis</dc:creator>
<dc:creator>Ruben Artero</dc:creator>
<dc:creator>Javier Ramón-Azcón</dc:creator>
<dc:creator>Juan M Fernández-Costa</dc:creator>
<dc:date>2024-04-24</dc:date>
<dc:source>Disease models & mechanisms</dc:source>
<dc:title>Taurine activates the AKT-mTOR axis to restore muscle mass and contractile strength in human 3D in vitro models of steroid myopathy</dc:title>
<dc:identifier>pmid:38655653</dc:identifier>
<dc:identifier>doi:10.1242/dmm.050540</dc:identifier>
</item>
<item>
<title>Analysis of spinal muscular atrophy carrier screening results in 32,416 pregnant women and 7,231 prepregnant women</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38654739/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>CONCLUSION: This study provides crucial insights into the prevalence and distribution of SMA carriers among the female population. The identification of 726 asymptomatic carriers highlights the necessity of comprehensive screening programs to identify at-risk individuals and ensure appropriate interventions are in place to minimize the impact of SMA-related conditions.</description>
<content:encoded><![CDATA[<div>Front Neurol. 2024 Apr 9;15:1357476. doi: 10.3389/fneur.2024.1357476. eCollection 2024.ABSTRACTOBJECTIVES: Spinal muscular atrophy (SMA) is an autosomal recessive disease that is one of the most common in childhood neuromuscular disorders. Our screenings are more meaningful programs in preventing birth defects, providing a significant resource for healthcare professionals, genetic counselors, and policymakers involved in designing strategies to prevent and manage SMA.METHOD: We screened 39,647 participants from 2020 to the present by quantitative real-time PCR, including 7,231 pre-pregnancy participants and 32,416 pregnancy participants, to detect the presence of SMN1 gene EX7 and EX8 deletion in the DNA samples provided by the subjects. To validate the accuracy of our findings, we also utilized the Multiplex Ligation-dependent Probe Amplification (MLPA) to confirm the reliability of screening results obtained by quantitative real-time PCR.RESULT: Among the 39,647 participants who were screened, 726 participants were the carriers of SMN1. The overall carrier rate was calculated to be 1.83% (95% confidence interval: 0.86-2.8%). After undergoing screening, a total of 592 pregnancy carriers were provided with genetic counseling and only 503 of their spouses (84.97, 95% confidence interval: 82.09-87.85%) voluntarily underwent SMA screening.CONCLUSION: This study provides crucial insights into the prevalence and distribution of SMA carriers among the female population. The identification of 726 asymptomatic carriers highlights the necessity of comprehensive screening programs to identify at-risk individuals and ensure appropriate interventions are in place to minimize the impact of SMA-related conditions.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38654739/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38654739</a> | PMC:<a href="https://www.ncbi.nlm.nih.gov/pmc/PMC11035774/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">PMC11035774</a> | DOI:<a href=https://doi.org/10.3389/fneur.2024.1357476>10.3389/fneur.2024.1357476</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38654739</guid>
<pubDate>Wed, 24 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Bing-Bo Zhou</dc:creator>
<dc:creator>Xue Chen</dc:creator>
<dc:creator>Chuan Zhang</dc:creator>
<dc:creator>Yu-Pei Wang</dc:creator>
<dc:creator>Pan-Pan Ma</dc:creator>
<dc:creator>Sheng-Ju Hao</dc:creator>
<dc:creator>Ling Hui</dc:creator>
<dc:creator>Yun-Fei Bai</dc:creator>
<dc:date>2024-04-24</dc:date>
<dc:source>Frontiers in neurology</dc:source>
<dc:title>Analysis of spinal muscular atrophy carrier screening results in 32,416 pregnant women and 7,231 prepregnant women</dc:title>
<dc:identifier>pmid:38654739</dc:identifier>
<dc:identifier>pmc:PMC11035774</dc:identifier>
<dc:identifier>doi:10.3389/fneur.2024.1357476</dc:identifier>
</item>
<item>
<title>Real-time ultrasound-guided sacral plexus block combined with mild sedation for hemorrhoidectomy and hemorrhoidal artery ligation in a patient with amyotrophic lateral sclerosis: a case report</title>
<link>https://pubmed.ncbi.nlm.nih.gov/38654338/?utm_source=Feedvalidator&utm_medium=rss&utm_campaign=None&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&fc=None&ff=20240426134820&v=2.18.0.post9+e462414</link>
<description>CONCLUSIONS: Real-time ultrasound-guided sacral plexus block combined with mild sedation may be an effective and safe technique in patients with amyotrophic lateral sclerosis undergoing hemorrhoidectomy and hemorrhoidal artery ligation.</description>
<content:encoded><![CDATA[<div>J Med Case Rep. 2024 Apr 24;18(1):205. doi: 10.1186/s13256-024-04493-4.ABSTRACTBACKGROUND: Patients with amyotrophic lateral sclerosis present perioperative challenges for clinical anesthesiologists for anesthesia-associated complications.CASE PRESENTATION: A 54-year-old Han woman with a 2-year history of amyotrophic lateral sclerosis was scheduled for hemorrhoidectomy and hemorrhoidal artery ligation. We performed real-time ultrasound-guided sacral plexus block with dexmedetomidine under standard monitoring. The anesthesia method met the surgical demands and avoided respiratory complications during the procedures. There was no neurological deterioration after the surgery and 3 months after, the patient was discharged.CONCLUSIONS: Real-time ultrasound-guided sacral plexus block combined with mild sedation may be an effective and safe technique in patients with amyotrophic lateral sclerosis undergoing hemorrhoidectomy and hemorrhoidal artery ligation.PMID:<a href="https://pubmed.ncbi.nlm.nih.gov/38654338/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">38654338</a> | PMC:<a href="https://www.ncbi.nlm.nih.gov/pmc/PMC11041001/?utm_source=Feedvalidator&utm_medium=rss&utm_content=1lIZdG7__acOiPmWIGFq09kRZNNr6-cdIuyHCdkoPZo0v8FMLk&ff=20240426134820&v=2.18.0.post9+e462414">PMC11041001</a> | DOI:<a href=https://doi.org/10.1186/s13256-024-04493-4>10.1186/s13256-024-04493-4</a></div>]]></content:encoded>
<guid isPermaLink="false">pubmed:38654338</guid>
<pubDate>Tue, 23 Apr 2024 06:00:00 -0400</pubDate>
<dc:creator>Yan Li</dc:creator>
<dc:creator>Qianhui Hu</dc:creator>
<dc:creator>Qian Wang</dc:creator>
<dc:creator>Taotao Liu</dc:creator>
<dc:creator>Min Gao</dc:creator>
<dc:date>2024-04-23</dc:date>
<dc:source>Journal of medical case reports</dc:source>
<dc:title>Real-time ultrasound-guided sacral plexus block combined with mild sedation for hemorrhoidectomy and hemorrhoidal artery ligation in a patient with amyotrophic lateral sclerosis: a case report</dc:title>
<dc:identifier>pmid:38654338</dc:identifier>
<dc:identifier>pmc:PMC11041001</dc:identifier>
<dc:identifier>doi:10.1186/s13256-024-04493-4</dc:identifier>
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