Results 121 to 130 of about 2,309,617 (377)

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

Impact of respiratory therapy in vital capacity and functionality of patients undergoing abdominal surgery

Einstein (São Paulo)
Objective To evaluate the vital capacity after two chest therapy techniques in patients undergoing abdominal surgical. Methods A prospective randomized study carried out with patients admitted to the Intensive Care Unit after abdominal surgery.
Shanlley Cristina da Silva Fernandes, Rafaella Souza dos Santos, Erica Albanez Giovanetti, Corinne Taniguchi, Cilene Saghabi de Medeiros Silva, Raquel Afonso Caserta Eid, Karina Tavares Timenetsky, Denise Carnieli-Cazati   +7 more
doaj   +1 more source

Growth Differentiation Factor 15 Elevation in the Central Nervous System Is Associated With Failure to Thrive in Alexander Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Alexander disease (AxD) is a severe neurodegenerative disorder caused by gain‐of‐function mutations in the gene for GFAP, which lead to protein aggregation and a primary astrocytopathy. Symptoms vary, but failure to thrive (FTT) and frequent emesis are common and cause significant morbidity. Here we investigate GDF15, a member of the
Tracy L. Hagemann, Michelle M. Sonsalla, Cora Luzinski, Fernando Zacahua, David A. Harris, Dudley W. Lamming, Albee Messing   +6 more
wiley   +1 more source

Nocturnal hypoxia in motor neuron disease is not predicted by standard respiratory function tests [PDF]

, 2006
Jennica M. Winhammar, David Joffe, R. Simmul, R E Schoeffel, Matthew C. Kiernan, Dominic B. Rowe   +5 more
openalex   +1 more source

Interleukin‐6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini, Emanuela Martinuzzi, Sandra Dhifallah, Abderhmane Slioui, Angela Puma, Luisa Villa, Michele Cavalli, Andra Ezaru, Jérémy Garcia, Manuela Gambella, Federico Torre, Luca Jacopo Pavan, Nicolas Glaichenhaus, Sabrina Sacconi   +13 more
wiley   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Ventilatory function in female practitioners of Hatha Yoga. DOI: 10.5007/1980-0037.2011v13n4p279

Revista Brasileira de Cineantropometria e Desempenho Humano, 2011
Yoga is an ancient philosophic system that originated in India and whose main objective is the development of the union of mind and body through exercise, respiration and meditation.
Cristina Martins Coelho, Thaíza Tavares Lessa, Lúcia Aparecida Martins Campos Coelho, Rafael da Silva Scari, José Marques Novo Júnior, Rosa Maria de Carvalho   +5 more
doaj  

Is there an association between postural balance and pulmonary function in adults with asthma?

Clinics
OBJECTIVE: Asthma may cause systemic repercussions due to its severity and the effects of treatment. Our objective was to compare posture, balance, functional capacity, and quality of life (QOL) according to the severity of disease, as assessed by ...
Vivian Pinto de Almeida, Fernando Silva Guimaraes, Vanessa Joaquim Ribeiro Moco, Arthur de Sa Ferreira, Sara Lucia Silveira de Menezes, Agnaldo Jose Lopes   +5 more
doaj   +1 more source

Nationwide Characterization of MFN2‐Related CMT in 176 Japanese Patients: Clinical and Genetic Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Chikashi Yano, Takahiro Hobara, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +13 more
wiley   +1 more source

Using Party Horns to Test Respiratory Function in Patients With Dementia [PDF]

, 2014
Misako Higashijima, Hiroyasu Shiozu
openalex   +1 more source