Results 61 to 70 of about 37,969 (302)

Longitudinal data collection in pediatric and adult patients with 5q spinal muscular atrophy in Latin America: LATAM RegistrAME study - a clinical registry study protocol [PDF]

Einstein (São Paulo)
Spinal muscular atrophy is a rare hereditary neurodegenerative disease characterized by progressive motor neuron loss. The most common form of SMA is linked to 5q (5q-SMA) and is classified into subtypes according to the age of onset and maximum motor ...
Elice Carneiro Batista, Edmar Zanoteli, Frederico Monfardini, Gustavo Prado dos Santos, Gisele Sampaio Silva, Otávio Berwanger, Luiz Vicente Rizzo, Henrique Andrade Rodrigues da Fonseca   +7 more
doaj   +1 more source

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca   +39 more
wiley   +1 more source

Cardiac involvement with anti‐mitochondrial antibody‐positive myositis mimicking cardiac sarcoidosis

ESC Heart Failure, 2020
Anti‐mitochondrial antibody (AMA)‐positive myositis is an atypical inflammatory myopathy characterized by chronic progressive respiratory muscle weakness, muscular atrophy, and cardiac involvement.
Takahide Kadosaka, Shingo Tsujinaga, Hiroyuki Iwano, Kiwamu Kamiya, Azusa Nagai, Yoshifumi Mizuguchi, Ko Motoi, Kazunori Omote, Toshiyuki Nagai, Ichiro Yabe, Toshihisa Anzai   +10 more
doaj   +1 more source

A 73‐Year‐Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 73‐year‐old man presented with progressive weakness and atrophy predominantly affecting the distal finger flexors and quadriceps muscles. Electrophysiological studies demonstrated mixed myogenic and neurogenic features. Muscle MRI showed inflammatory changes, and muscle biopsy revealed granulomatous myositis with histologic features ...
Mehmet Can Sari, Arens Taga, Sonya Ulrike Steele, Ahmet Hoke   +3 more
wiley   +1 more source

Spinal muscular atrophy and ependymoma

Saudi Journal of Medicine and Medical Sciences, 2017
Spinal muscular atrophy (SMA) is an autosomal recessive disorder, characterized by a progressive degeneration of anterior horn cells of the spinal cord resulting in hypotonia, skeletal muscle atrophy and weakness.
Aishah Albakr, Faisal Abbas, Hosam Al-Jehani, Ahmed Ammar   +3 more
doaj   +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

Oral Dosed Organo‐Silica Nanoparticles Restore Glucose Homeostasis and β‐Cell Function in Diabetes Rats

Advanced Functional Materials, EarlyView.
An oral nanoplatform, MOP@T@D, which can maintain glucose homeostasis and restore islet β cells in diabetic rats is developed. It achieves efficient intestinal absorption and liver‐targeted delivery. The nanoparticle disintegrates only in response to hyperglycemia to release insulin on demand and provides antioxidant protection through selenoprotein ...
Chenxiao Chu, Mingli Wei, Che Bian, Xiaoshuang Bi, Yaxin Deng, Peifu Xiao, Jiansong Zhao, Yuying Wang, Haibing He, Jingxin Gou, Tian Yin, Xing Tang, Li Yang, Hongbo Zhang, Yu Zhang   +14 more
wiley   +1 more source

Interconnected Porous Hydrogels with Tunable Anisotropy Through Aqueous Emulsion Bioprinting

Advanced Functional Materials, EarlyView.
A 3D bioprintable microporous bioink is developed using an aqueous two‐phase system (ATPS) composed of extracellular matrix (ECM) mimetic biopolymers. The ATPS bioink enables the fabrication of interconnected porous architectures with up to 70% porosity, supporting long‐term cell viability and 3D cell alignment, enabling a simultaneous generation of ...
Hugo Edgar‐Vilar, Francisca P. Correia, Inês M. Freitas, Vítor M. Gaspar, João F. Mano   +4 more
wiley   +1 more source

SMN1 Duplications Are Associated With Progressive Muscular Atrophy, but Not With Multifocal Motor Neuropathy and Primary Lateral Sclerosis. [PDF]

Neurol Genet, 2021
Bos JW, Groen EJN, Wadman RI, Curial CAD, Molleman NN, Zegers M, van Vught PWJ, Snetselaar R, Vijzelaar R, van der Pol WL, van den Berg LH.   +10 more
europepmc   +1 more source

Electrochemically Driven Dissipative Growth of Affinity Hydrogels for Bioresponsive Interfaces

Advanced Functional Materials, EarlyView.
Voltage pulses drive the growth and reinforcement of hydrogel films under dissipative conditions. This biocompatible strategy enables efficient integration of affinity ligands into the hydrogel matrix, enhancing the selective capture of growth factors and allowing precise temporal control over their release, making them well‐suited as adaptive ...
Roberto Baretta, Marco Frasconi
wiley   +1 more source