Results 141 to 150 of about 2,421,984 (303)

Irreversible Electroporation for Inferior Turbinate Reduction Ablation in Adults

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Inferior turbinate hypertrophy is a common cause of nasal airway obstruction. An optimal surgical approach should provide effective volume reduction while preserving mucosal integrity and minimizing postoperative morbidity. Objective To evaluate the safety and efficacy of irreversible electroporation (IRE) for non‐thermal ablation ...
Narin Nard Carmel Neiderman, Codrut Sarafoleanu, Ionut Tanase, Mihai Alexandru Pascu, Desiderio Passali, Ulugbek Saidakramovich Khasanov, Ulugbek Nuridinovich Vokhidov, Eugenijus Lesinskas, Marius Polianskis, Avraham Abergel   +9 more
wiley   +1 more source

Patient‐Derived Fibroblasts as a Clinically Relevant Model of Kearns–Sayre Syndrome

Annals of Neurology, EarlyView.
Objective Kearns–Sayre syndrome (KSS) is characterized by single large‐scale mitochondrial DNA deletions and by severe early‐onset clinical manifestations with neurological involvement. Reliable disease models, as well as validated biomarkers or effective treatments, are lacking.
Laura Valls‐Roca, Adrià Vilaseca‐Capel, Judith Cantó‐Santos, Ester Tobías, Félix Andújar‐Sánchez, Laia Farré‐Tarrats, Frederic Tort, Carles Rentero, Carlos Enrich, Virginia López, Juan R. Tejedor, Anna Esteve‐Codina, Cristina Núñez de Arenas, Pedro J. Moreno‐Lozano, José C. Milisenda, Mar O'Callaghan, Teresa García‐Silva, Montserrat Morales‐Conejo, Mario F. Fraga, Rafael Artuch, Miguel Á. Martín, José M. Cuezva, Ana Matas, Glòria Garrabou, Mariona Guitart‐Mampel   +24 more
wiley   +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

SELENON-related myopathy as a cause of acute respiratory failure in middle age: a case report

Journal of Medical Case Reports
Background SELENON-related myopathy is a rare autosomal recessive congenital neuromuscular disorder linked to defects in the selenoprotein N. The clinical onset typically occurs in infancy and axial weakness, rigid spine, and respiratory involvement are ...
Barbara Risi, Filomena Caria, Simona Damioli, Beatrice Labella, Gaetana Lanzi, Mattia Bugatti, Carla Baronchelli, Enrica Bertella, Giorgia Giovanelli, Lucia Ferullo, Emanuele Olivieri, Loris Poli, Alessandro Padovani, Massimiliano Filosto   +13 more
doaj   +1 more source

Astrocyte SMN Restoration and Forskolin Treatment Improve SMA Synaptic Pathology

Annals of Neurology, EarlyView.
Objective Early phenotypic presentation of central afferent synapse dysfunction within patients with spinal muscular atrophy (SMA) represents a key target for therapeutic development; however, the underlying disease mechanisms remain unresolved. By further investigating motor neuron synapse and peri‐synaptic astrocyte process (PAP) defects in human SMA
Emily Welby, Xiaojie Liu, Melinda Wojtkiewicz, Linda Berg Luecke, Rebekah L. Gundry, Qing‐Song Liu, Allison D. Ebert   +6 more
wiley   +1 more source

Belgian NMD registry

, 2020
This presentation gives a brief overview of the Belgian neuromuscular diseases registry and includes information on the set up, overall numbers, projects being done, challenges being faced.
M. Jagut, M. Cosyns
core  

Three‐dimensional geometric morphometric analysis of diaphragmatic dome motion in COPD patients

The Anatomical Record, EarlyView.
Abstract Diaphragmatic dysfunction is a hallmark of chronic obstructive pulmonary disease (COPD), especially in emphysema, where hyperinflation alters diaphragm geometry and impairs inspiratory mechanics. However, quantitative three‐dimensional (3D) assessments of diaphragmatic dome shape and motion across COPD phenotypes are limited.
José M. López‐Rey, Benoît Beyer, Elena García‐Vargas, Isabel Torres‐Sánchez, Francisco García‐Río, Markus Bastir   +5 more
wiley   +1 more source

Neuromuscular Diseases

, 2004
Designed as a companion to ACSM\u27s Guidelines for Exercise Testing and Prescription, Seventh Edition and as a recommended study tool for ACSM certifications, this book covers all the major aspects of preventive rehabilitative and fitness programs and ...
Mulcare, Janet A., Jackson, Kurt
core   +1 more source

Human evolution and the obstetrical dilemma: The pelvic floor hypothesis

The Anatomical Record, EarlyView.
Abstract Human childbirth is mechanically difficult because a large‐headed, broad‐shouldered fetus must pass through a comparatively narrow, twisted bony birth canal. Traditional explanations of this “obstetrical dilemma” emphasize the role of bipedal locomotion in inhibiting the evolution of a wider, more spacious pelvis.
Barbara Fischer, Ekaterina Stansfield
wiley   +1 more source

Editorial Commentary: Patients, Not Radiographs, Define Success After Surgical Treatment of Massive Rotator Cuff Tears

Arthroscopy, EarlyView.
Abstract Objective radiographic measurements are attractive because they provide reproducible markers of surgical success. However, successful treatment of massive rotator cuff tears is not fully explained by postoperative imaging findings alone. Increasing evidence suggests that meaningful recovery reflects the interaction of structural restoration ...
Lee Yaari
wiley   +1 more source