Article
Genetics & Heredity
Naye Balzan Schneider, Erica Caetano Roos, Ana Lucia Portella Staub, Isabela Possebon Bevilacqua, Ana Carolina de Almeida, Tamie de Camargo Martins, Natalia Bergamelli Ramos, Priscilla Loze, Jonas Alex Morales Saute, Ana Paula Beck da Silva Etges, Carisi Anne Polanczyk
Summary: This study evaluates the annual costs of hospital, home care, and transportation for patients with DMD in Brazil. The results show that home care expenditures account for 92% of the total costs, followed by hospital costs (6%) and transportation costs (2%). Accurate information about costs is crucial for establishing sustainable health policies for rare diseases.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Nutrition & Dietetics
Andreas Maskos, Moritz L. Schmidbauer, Stefan Kunst, Raphael Rehms, Timon Putz, Sebastian Roemer, Vassilena Iankova, Konstantinos Dimitriadis
Summary: This study evaluated the diagnostic value of ultrasound- and CT-based measurements of temporalis muscle thickness (TMT) as a monitoring tool in intensive care. The results showed a positive correlation between TMT and decline in rectus femoris muscle thickness (RFT), with high ICC indicating good reliability. Variance analysis demonstrated no measurement errors in subgroups.
Article
Clinical Neurology
Lotte Sahin Levison, Reimar Wernich Thomsen, Henning Andersen
Summary: The study found that within 6 months of GBS hospital admission, the mortality rate was 6.6 times higher compared to the general population of the same age. The mortality rate continued to increase for approximately 4 years following GBS, and then leveled off to a similar long-term mortality rate.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Review
Pediatrics
Nicolas J. Abreu, Megan A. Waldrop
Summary: Both 5q-linked SMA and DMD are fatal monogenic neuromuscular disorders caused by loss-of-function mutations. Gene replacement therapy and antisense nucleotide-mediated therapies offer hopeful prospects for the treatment of these diseases.
PEDIATRIC PULMONOLOGY
(2021)
Article
Multidisciplinary Sciences
W. Grabowska, R. King, S. Roll, I. V. Habermann, S. Hoerder, K. Hahn, S. N. Willich, S. Schroeder, B. Brinkhaus, J. Dietzel
Summary: This study aimed to assess the reliability of DPNCheck for repeated sural nerve conduction parameters. A post hoc analysis was conducted using data from a randomized controlled trial, which found moderate to good reliability of DPNCheck for nerve velocity and amplitude, but weak correlation with Total Neuropathy Score clinical. Given the limitations of this analysis, further long-term, pre-specified studies are needed to fully determine the suitability of DPNCheck for monitoring DPN progression.
SCIENTIFIC REPORTS
(2023)
Article
Chemistry, Multidisciplinary
Daniela Vlazna, Peter Krkoska, Matyas Kuhn, Filip Dosbaba, Ladislav Batalik, Eva Vlckova, Stanislav Vohanka, Blanka Adamova
Summary: The study aimed to comprehensively assess trunk muscle function in healthy volunteers, confirming the repeatability and reliability of measurements in different postural positions. Results showed that male participants generated the greatest lower back extensor strength in the sitting position, while effort time in the Biering-Sorensen test was longer in women and older subgroups.
APPLIED SCIENCES-BASEL
(2021)
Article
Orthopedics
Isabel de Almeida Paz, Graciane Taglian Rigo, Amanda Sgarioni, Bruno Manfredini Baroni, Viviane Bortoluzzi Frasson, Marco Aurelio Vaz
Summary: The study found that under submaximal contraction level, PC is more effective than AC in generating muscle fatigue, while there is no significant difference in discomfort level between the two.
Article
Cell Biology
Jinwoo Lee, Subin An, Sang-Jin Lee, Jong-Sun Kang
Summary: Neuromuscular diseases are characterized by loss of muscle mass and strength, and there is currently no effective treatment. Protein arginine methyltransferases (PRMTs) are being investigated as potential therapeutic targets for these diseases.
Review
Clinical Neurology
Carlos Pascual-Morena, Ivan Cavero-Redondo, Irene Sequi-Dominguez, Eva Rodriguez-Gutierrez, Maria Eugenia Visier-Alfonso, Vicente Martinez-Vizcaino
Summary: The aim of this study was to estimate the intelligence quotient (IQ) in patients with Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD), and to examine the association between IQ and altered dystrophin isoforms. The results showed that the IQ in BMD was 89.92 and in DMD was 84.61. Additionally, in DMD, there was a synergistic association between the number of affected isoforms and IQ.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2023)
Article
Engineering, Biomedical
Zhiyu Sheng, Nitin Sharma, Kang Kim
Summary: This study utilized high-frame-rate ultrasound images to assess muscle fatigue induced by NMES, providing a new method to observe the contractility of targeted muscles. By investigating the correlation between strain maps and force values, the study found patterns in muscle contractility changes. Additionally, a novel methodology based on PCR was proposed to explore the correlation between strain and force.
ANNALS OF BIOMEDICAL ENGINEERING
(2021)
Article
Clinical Neurology
Robert Muni-Lofra, Lindsay B. Murphy, Kate Adcock, Maria E. Farrugia, Joseph Irwin, James B. Lilleker, John McConville, Andria Merrison, Matt Parton, Liz Ryburn, Mariacristina Scoto, Chiara Marini-Bettolo, Anna Mayhew
Summary: This study describes the experience of individuals with SMA regarding their care in the UK. The survey highlights differences in access to care between adults and children, with limited access to certain professionals and interventions.
FRONTIERS IN NEUROLOGY
(2022)
Review
Health Care Sciences & Services
Tyler K. Williamson, Hugo C. Rodriguez, Andrew Gonzaba, Neil Poddar, Stephen M. Norwood, Ashim Gupta
Summary: Pain treatment has shifted towards multi-modal approaches emphasizing early movement, non-narcotics, and various adjunctive therapies due to the opioid crisis. Although electrotherapies like H-Wave stimulation lack high-quality clinical trials, they show promise as adjunctive options for pain management, with studies demonstrating benefits in diabetic and non-specific neuropathic pain.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Clinical Neurology
P. V. S. Souza, W. B. V. R. Pinto, A. Ricarte, B. M. L. Badia, D. D. Seneor, D. T. Teixeira, L. Caetano, E. A. Goncalves, M. A. T. Chieia, I. B. Farias, E. Bertini, A. S. B. Oliveira
Summary: This study identified a cohort of 20 patients with SMA type 4 in a Brazilian cohort of 227 SMA patients. The most common clinical symptom was limb-girdle muscle weakness, with absent tendon reflexes in 90% of patients and fasciculations in 45% of patients. The majority of patients (80%) had the homozygous deletion of exon 7 in the SMN1 gene, with 60% of them showing four copies of the SMN2 gene.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Ying Hu, Ling Wei, Aonan Li, Tingting Liu, Yubao Jiang, Chengjuan Xie, Kai Wang
Summary: This study aimed to assess the cognitive profile of adult Chinese patients with SMA and explore the association between clinical features and cognitive ability, particularly executive function. The results showed that SMA patients had impaired executive function, which was correlated with a younger age at onset, poorer motor function, and higher levels of anxiety and depression.
FRONTIERS IN NEUROLOGY
(2023)
Article
Biochemistry & Molecular Biology
Zhihua Feng, Steven Lam, Elena-Marie Sandino Tenn, Arundhati Sengupta Ghosh, Sarah Cantor, Wei Zhang, Pei-Fen Yen, Karen S. Chen, Steven Burden, Sergey Paushkin, Gai Ayalon, Chien-Ping Ko
Summary: The research demonstrates that activating MuSK can improve neuromuscular junction innervation in patients with spinal muscular atrophy, reduce muscle atrophy, and increase muscle cross-sectional area and myofiber numbers.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
