Results 121 to 130 of about 9,662,184 (369)

Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy

Frontiers in Neurology
Limb-girdle muscular dystrophy autosomal recessive 8 (LGMDR8) is a rare clinical manifestation caused by the presence of biallelic variants in the TRIM32 gene.
Martina Rimoldi, Gloria Romagnoli, Francesca Magri, Sara Antognozzi, Claudia Cinnante, Elena Saccani, Patrizia Ciscato, Simona Zanotti, Daniele Velardo, Stefania Corti, Stefania Corti, Giacomo Pietro Comi, Giacomo Pietro Comi, Dario Ronchi, Dario Ronchi   +14 more
doaj   +1 more source

Understanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function

, 2021
William Duddy, Stéphanie Duguez
openalex   +1 more source

Clinical Practice Guideline for Evaluation and Management of Peripheral Nervous System Manifestations in Sjögren's Disease

Arthritis Care &Research, Accepted Article.
Objectives Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies. To help patients and providers in the decision‐making process, we developed
Anahita Deboo, Robert Fox, Katherine M. Hammitt, Julie Frantsve‐Hawley, Matthew C. Baker, Stamatina Danielides, Eduardo De Sousa, Brent P. Goodman, Jennifer K. King, Steven Mandel, Ghaith Noaiseh, Pantelis P. Pavlakis, George Sarka, R. Hal Scofield, Arun Varadhachary, Daniel J. Wallace, Matt Makara, Nancy Carteron, Steven Carsons, In collaboration with the Consensus Expert Panel (CEP) members   +19 more
wiley   +1 more source

The quality of life in boys with Duchenne muscular dystrophy [PDF]

, 2016
We conducted a study to evaluate the quality of life in boys with Duchenne muscular dystrophy aged 8–18 years, compared with that in matched healthy controls. A total of 85 boys with Duchenne muscular dystrophy aged 8–18 years and 136 age, sex and living
Ashrafi, M.R., Azizi Malamiri, R., Fathi, M.R., Heidari, M., Hosseini, S.A., Mohammadi, M., Qorbani, M., Salehi, S., Shahrokhi, A., Shervin Badv, R., Zamani, G.   +10 more
core   +1 more source

Implementation of Drug‐Induced Rhabdomyolysis and Acute Kidney Injury in Microphysiological System

Advanced Functional Materials, EarlyView.
A modular Muscle–Kidney proximal tubule‐on‐a‐chip integrates 3D skeletal muscle and renal proximal tubule tissues to model drug‐induced rhabdomyolysis and acute kidney injury. The coculture system enables dynamic tissue interaction, functional contraction monitoring, and quantification of nephrotoxicity, revealing drug side effect‐induced metabolic ...
Jaesang Kim, Zhuo Feng Lee, Gi‐Dong Sim, Sejoong Kim, Jessie S. Jeon   +4 more
wiley   +1 more source

Multiple respiratory assessment and thresholds for noninvasive ventilation in adult patients with spinal muscular atrophy

Scientific Reports
This study aimed to examine feasibility of inspiratory muscle strength tests, such as maximal inspiratory pressure (MIP) and sniff nasal inspiratory pressure (SNIP) in adult patients affected by spinal muscular atrophy (SMA), as well as their ability ...
Grazia Crescimanno, Antonino Lupica, Vito Tomasello, Vincenzo Di Stefano, Filippo Brighina, Oreste Marrone   +5 more
doaj   +1 more source

Flow cytofluorimetric analysis of anti-LRP4 (LDL receptor-related protein 4) autoantibodies in Italian patients with Myasthenia gravis [PDF]

, 2015
Background: Myasthenia gravis (MG) is an autoimmune disease in which 90% of patients have autoanti-bodies against the muscle nicotinic acetylcholine receptor (AChR), while autoantibodies to muscle-specific tyrosine kinase (MuSK) have been detected in ...
Antonini, Giovanni, Bartoccioni, Emanuela, Evoli, Amelia, Maiuri, Maria Teresa, Marino, Mariapaola, Mei, Lin, Pani, Giovambattista, Sabatelli, Mario, SALTELLI, GIORGIA, Samengo, Daniela, Scuderi, Flavia, Shen, Chengyong   +11 more
core   +3 more sources

Smart, Bio‐Inspired Polymers and Bio‐Based Molecules Modified by Zwitterionic Motifs to Design Next‐Generation Materials for Medical Applications

Advanced Functional Materials, EarlyView.
Bio‐based and (semi‐)synthetic zwitterion‐modified novel materials and fully synthetic next‐generation alternatives show the importance of material design for different biomedical applications. The zwitterionic character affects the physiochemical behavior of the material and deepens the understanding of chemical interaction mechanisms within the ...
Theresa M. Lutz, Jonas De Breuck, Sahar Salehi, Meike N. Leiske   +3 more
wiley   +1 more source

Recommendations for hygiene of masks and circuits in mechanically home ventilated patients

Brazilian Journal of Infectious Diseases
Home mechanical ventilation requires equipment, consisting of a generator of pressure, a tubing and an interface to deliver air to the patient. Instructions for equipment maintenance are generally not based on scientific evidence.
Michel Toussaint, Gregory Reychler
doaj   +1 more source

A Human Neural Tube Model Using 4D Self‐Folding Smart Scaffolds

Advanced Healthcare Materials, EarlyView.
Induced pluripotent stem cells (iPSCs) exhibit features comparable to the inner cell mass of the human embryo. iPSCs are applied to a novel self‐folding 4D‐Neural Tube (4D‐NT) structure that mimics the neurulation process. This 4D‐NT model recapitulates early events of human neural development and represents a platform to explore neurodevelopmental ...
Claudia Dell'Amico, Irene Chiesa, Angela Toffano, Alessio Esposito, Piera Mancini, Chiara Magliaro, Angeliki Louvi, Carmelo De Maria, Marco Onorati   +8 more
wiley   +1 more source