Protein quality control: from molecular mechanisms to therapeutic intervention-EMBO workshop, May 21-26 2023, Srebreno, Croatia
This report summarizes the workshop and highlights selected presentations.PMID:37731161 | DOI:10.1007/s12192-023-01383-4 (Source: Cell Stress and Chaperones)
Source: Cell Stress and Chaperones - September 21, 2023 Category: Cytology Authors: Christian M ünch Janine Kirstein Source Type: research

Excitability of somatosensory cortex is increased in ALS: A SEP recovery function study
CONCLUSIONS: Our findings demonstrated increased somatosensory cortical excitability in ALS, which was associated with clinical parameters such as reduced pulmonary function and motor strength.SIGNIFICANCE: Somatosensory cortical excitability is impaired in ALS. Whether this is associated with increased motor cortical excitability requires further studies.PMID:37734132 | DOI:10.1016/j.clinph.2023.08.013 (Source: Clinical Neurophysiology)
Source: Clinical Neurophysiology - September 21, 2023 Category: Neurology Authors: B ülent Cengiz Özlem Kurtkaya Koçak Tu ğba Erdoğan Ece Yan ık G ökhan Pek Yusuf Savrun H Evren Boran H Reha Kuruo ğlu Source Type: research

Protein quality control: from molecular mechanisms to therapeutic intervention-EMBO workshop, May 21-26 2023, Srebreno, Croatia
This report summarizes the workshop and highlights selected presentations.PMID:37731161 | DOI:10.1007/s12192-023-01383-4 (Source: Cell Stress and Chaperones)
Source: Cell Stress and Chaperones - September 21, 2023 Category: Cytology Authors: Christian M ünch Janine Kirstein Source Type: research

Excitability of somatosensory cortex is increased in ALS: A SEP recovery function study
CONCLUSIONS: Our findings demonstrated increased somatosensory cortical excitability in ALS, which was associated with clinical parameters such as reduced pulmonary function and motor strength.SIGNIFICANCE: Somatosensory cortical excitability is impaired in ALS. Whether this is associated with increased motor cortical excitability requires further studies.PMID:37734132 | DOI:10.1016/j.clinph.2023.08.013 (Source: Clinical Neurophysiology)
Source: Clinical Neurophysiology - September 21, 2023 Category: Neurology Authors: B ülent Cengiz Özlem Kurtkaya Koçak Tu ğba Erdoğan Ece Yan ık G ökhan Pek Yusuf Savrun H Evren Boran H Reha Kuruo ğlu Source Type: research

Are we getting the timing right with gastrostomy insertion for patients with motor neurone disease: A service review
Introduction: NICE suggests early discussion of enteral feeding for patients with Motor Neurone Disease (MND), and avoiding delay to insertion where gastrostomies are indicated 1. The BSG identified high mortality rates following PEG (Percutaneous Endoscopic Gastrostomy) insertion, relating in part to co-morbidities, alongside inappropriate insertions, particularly if prognosis was poor 2. (Source: Clinical Nutrition ESPEN)
Source: Clinical Nutrition ESPEN - September 21, 2023 Category: Nutrition Authors: P. Starbuck, R. Mason, T. Mehta, G. Chohan Source Type: research

Development and pilot testing of a web-based decision aid for people with motor neurone disease considering a gastrostomy tube (DiAMoND Study)
Motor neurone disease (MND) is a life limiting neurodegenerative disease with no known cure. Due to the multisystem effects of the disease, patients are faced with many complex healthcare decisions, one of which is whether to have a gastrostomy tube fitted. Ethical challenges to research mean the evidence base for gastrostomy tube benefit is lacking. Patient decision aids (DA) support individuals to make decisions by providing evidence-based information, communicating the risks and benefits associated with each option, helping clarification of personal values and preferences and checking understanding (1). (Source: Clinical Nutrition ESPEN)
Source: Clinical Nutrition ESPEN - September 21, 2023 Category: Nutrition Authors: S. Wheelwright, R. Maunsell, S. Taylor, N. Drinkwater, C. Erridge, C. Foster, M. Hardcastle, A. Hogden, I. Lawson, D. Lisiecka, C. McDermott, K. Morrison, C. Muir, A. Recio-Saucedo, S. White Source Type: research

Phenotypical differences of C9ORF72 gene-positive and negative amyotrophic lateral sclerosis: a comparative case series
Discussion Analysis of this ALS clinic cohort at a UK tertiary neurosciences centre adds to the small but growing understanding of the unique clinical features of patients with C9pALS. In the age of precision medicine with expanding opportunities to manage genetic diseases with disease-modifying therapies, clinical identification of such patients is increasingly important as focused therapeutic strategies become available. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - September 21, 2023 Category: Genetics & Stem Cells Authors: White, L. M., Boardman, J., Lilleker, J., Chaouch, A., Kargwell, H., Ealing, J., Hamdalla, H. Tags: Neurogenetics Source Type: research

Gene therapy for spinal muscular atrophy
GlossaryVg/kg = vector genomes/kilogram SMA = Spinal Muscular Atrophy AAV9 = Adeno-associated virus serotype 9 CHOP-INTEND: Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders, a motor assessment tool devised for infants with SMA. This has 16 items graded on a scale of 0 to 4, with 0 being no response and 4 being complete response. Introduction Spinal muscular atrophy (SMA) is a severe neurodegenerative condition resulting from recessive mutations in the SMN1 gene and insufficient survival motor neuron (SMN) protein production.1 Lack of SMN protein causes irreversible degeneration of lower mot...
Source: Archives of Disease in Childhood - Education and Practice - September 20, 2023 Category: Pediatrics Authors: Gowda, V. L., Jungbluth, H., Wraige, E. Tags: Medicines update Source Type: research

High-Density Surface EMG Decomposition by Combining Iterative Convolution Kernel Compensation With an Energy-Specific Peel-off Strategy
Conclusion- The high yield and accuracy of MUs decomposed from simulated and experimental HD-sEMG signals demonstrate the superiority of the proposed framework in decomposing low-energy MUs compared to existing methods for HD-sEMG signal decomposition. Significance- The proposed framework enables us to construct a more representative motor unit pool, consequently enhancing our understanding pertaining to various neuropathological conditions and providing invaluable information for the diagnosis and treatment of neuromuscular disorders and motor neuron diseases. (Source: IEE Transactions on Neural Systems and Rehabilitation Engineering)
Source: IEE Transactions on Neural Systems and Rehabilitation Engineering - September 18, 2023 Category: Neuroscience Source Type: research

Expert consensus on the surgical evaluation and management of upper extremity spasticity in adults
J Hand Surg Eur Vol. 2023 Sep 17:17531934231192843. doi: 10.1177/17531934231192843. Online ahead of print.ABSTRACTIn the last decade there has been incredible interest and advancement in the surgical care of adult patients with upper motor neuron (UMN) injuries. Spasticity represents a prevalent and debilitating feature of UMN syndrome, which can result from cerebral palsy, spinal cord injury, cerebrovascular accident and traumatic or anoxic brain injury. While several diagnostic tools and management strategies have been described for upper limb spasticity, evidence-based practice guidelines do not currently exist due to l...
Source: Hand Surgery - September 17, 2023 Category: Surgery Authors: Christopher S Crowe Paula A Pino Peter C Rhee And The Upper Extremity Spasticity Working Group Source Type: research

Expert consensus on the surgical evaluation and management of upper extremity spasticity in adults
J Hand Surg Eur Vol. 2023 Sep 17:17531934231192843. doi: 10.1177/17531934231192843. Online ahead of print.ABSTRACTIn the last decade there has been incredible interest and advancement in the surgical care of adult patients with upper motor neuron (UMN) injuries. Spasticity represents a prevalent and debilitating feature of UMN syndrome, which can result from cerebral palsy, spinal cord injury, cerebrovascular accident and traumatic or anoxic brain injury. While several diagnostic tools and management strategies have been described for upper limb spasticity, evidence-based practice guidelines do not currently exist due to l...
Source: Hand Surgery - September 17, 2023 Category: Surgery Authors: Christopher S Crowe Paula A Pino Peter C Rhee And The Upper Extremity Spasticity Working Group Source Type: research

Pilot Study on Newborn Screening for Spinal Muscular Atrophy
CONCLUSION: Early diagnosis and intervention are important for SMA treatment to be effective; the treatment should be started at the pre-symptomatic stage of SMA. Thus, newborn screening for SMA is strongly recommended. Currently, targeted therapies for SMA are available, and attempts are being made worldwide to include SMA screening in newborns.PMID:37711122 | DOI:10.2174/1871530323666230914122955 (Source: Endocrine, Metabolic and Immune Disorders Drug Targets)
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - September 15, 2023 Category: Drugs & Pharmacology Authors: Helena Fonseca Diogo Ribeiro Fabio Guimar ães Concei ção Pinto Ana Marc ão Carmen Sousa Ivone Carvalho Lurdes Lopes Diogo Rodrigues Hugo Rocha Laura Vilarinho Source Type: research

Pilot Study on Newborn Screening for Spinal Muscular Atrophy
CONCLUSION: Early diagnosis and intervention are important for SMA treatment to be effective; the treatment should be started at the pre-symptomatic stage of SMA. Thus, newborn screening for SMA is strongly recommended. Currently, targeted therapies for SMA are available, and attempts are being made worldwide to include SMA screening in newborns.PMID:37711122 | DOI:10.2174/1871530323666230914122955 (Source: Endocrine, Metabolic and Immune Disorders Drug Targets)
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - September 15, 2023 Category: Endocrinology Authors: Helena Fonseca Diogo Ribeiro Fabio Guimar ães Concei ção Pinto Ana Marc ão Carmen Sousa Ivone Carvalho Lurdes Lopes Diogo Rodrigues Hugo Rocha Laura Vilarinho Source Type: research

Differential Diagnosis or Etiology: A Case Report on Amyotrophic Lateral Sclerosis-like Neuropathy Associated with HIV Infection
CONCLUSION: After a short follow-up and viral load cleansing, neurological stabilization was achieved.PMID:37711011 | DOI:10.2174/1570162X21666230914104220 (Source: Current HIV Research)
Source: Current HIV Research - September 15, 2023 Category: Infectious Diseases Authors: Renato Barradas Rodrigues Marco Orsini Sofia Vieira Neves Wladimir Bocca Vieira de Rezende Pinto Ant ônio Marcos da Silva Catarino Daniel Antunes Pereira Acary Souza Bulle Oliveira Source Type: research

Pilot Study on Newborn Screening for Spinal Muscular Atrophy
CONCLUSION: Early diagnosis and intervention are important for SMA treatment to be effective; the treatment should be started at the pre-symptomatic stage of SMA. Thus, newborn screening for SMA is strongly recommended. Currently, targeted therapies for SMA are available, and attempts are being made worldwide to include SMA screening in newborns.PMID:37711122 | DOI:10.2174/1871530323666230914122955 (Source: Endocrine, Metabolic and Immune Disorders Drug Targets)
Source: Endocrine, Metabolic and Immune Disorders Drug Targets - September 15, 2023 Category: Drugs & Pharmacology Authors: Helena Fonseca Diogo Ribeiro Fabio Guimar ães Concei ção Pinto Ana Marc ão Carmen Sousa Ivone Carvalho Lurdes Lopes Diogo Rodrigues Hugo Rocha Laura Vilarinho Source Type: research