نتایج جستجو برای: als

تعداد نتایج: 27090  

2017
Yolanda Martínez-Campo Christian Homedes Ana Lazaro Raquel Alarcón David Campo Mariona Riera Raúl Domínguez Mónica Povedano Carlos Casasnovas

BACKGROUND Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disease that dramatically affects patients' quality of life (QoL) and dignity of life (DoL). We aimed to study the impact of ALS on QoL and DoL and how these evolve throughout the duration of the disease. METHODS First, we performed an observational, descriptive study of 43 patients with ALS recruited from the AL...

Journal: :Neurology 2014
Summer B Gibson Karla P Figueroa Mark B Bromberg Stefan-M Pulst Lisa Cannon-Albright

OBJECTIVE To determine the extent of an inherited contribution to amyotrophic lateral sclerosis (ALS) mortality. METHODS Death certificates (DCs) from 1904 to 2009 were analyzed from patients with at least 3 generations recorded in the Utah Population Database, a genealogic and medical database of more than 2 million Utah residents. Among probands whose DCs listed ALS, the relative risk (RR) ...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه تربیت مدرس 1374

die vorliegende untersuchung besteht aus drei theoretischen und praktischen teilen sowie zwei anlagen. in dem theroretischen teil wrird auf die lehrmethode hingewiesen. auberdem werden vierzehn unterschiedliche themen und die wichtigsten resultate der durchgefuhrten meinungesumfragen vorgelegt. fur den praktischen teil wurden als beispiel 14 zielgerichtete und zusammenhangende themen uber allta...

Journal: :JAMA neurology 2014
Janet Cady Erica D Koval Bruno A Benitez Craig Zaidman Jennifer Jockel-Balsarotti Peggy Allred Robert H Baloh John Ravits Ericka Simpson Stanley H Appel Alan Pestronk Alison M Goate Timothy M Miller Carlos Cruchaga Matthew B Harms

IMPORTANCE Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease in which microglia play a significant and active role. Recently, a rare missense variant (p.R47H) in the microglial activating gene TREM2 was found to increase the risk of several neurodegenerative diseases, including Alzheimer disease. Whether the p.R47H variant is a risk factor for ALS is not known. OBJECTIV...

2011
C R V Blain S Brunton V C Williams A Leemans M R Turner P M Andersen M Catani B R Stanton J Ganesalingham D K Jones S C R Williams P N Leigh A Simmons

BACKGROUND The homogeneous genotype and stereotyped phenotype of a unique familial form of amyotrophic lateral sclerosis (ALS) (patients homozygous for aspartate-to-alanine mutations in codon 90 (homD90A) superoxide dismutase 1) provides an ideal model for studying genotype/phenotype interactions and pathological features compared with heterogeneous apparently sporadic ALS. The authors aimed to...

2015
Bastien Paré Lydia Touzel-Deschênes Rémy Lamontagne Marie-Soleil Lamarre François-Dominique Scott Hélène T Khuong Patrick A Dion Jean-Pierre Bouchard Peter Gould Guy A Rouleau Nicolas Dupré François Berthod François Gros-Louis

Amyotrophic lateral sclerosis (ALS) is an adult-onset disease characterized by the selective degeneration of motor neurons in the brain and spinal cord progressively leading to paralysis and death. Current diagnosis of ALS is based on clinical assessment of related symptoms. The clinical manifestations observed in ALS appear relatively late in the disease course after degeneration of a signific...

Journal: :Acta neurologica Taiwanica 2014
Tomomi Tsukie Hiroaki Masaki Sohei Yoshida Mikio Fujikura Seiitsu Ono

PURPOSE The Kii Peninsula of Japan, together with Guam and West New Guines, has one of the highest incidences of amyotrophic lateral sclerosis (Kii ALS) in the world. There is a controversy whether the etiology is the same or not between sporadic ALS and Kii ALS. Skin studies from patients with sporadic ALS have shown unique pathological and biochemical abnormalities. However, there has been no...

Journal: :Journal of neurology, neurosurgery, and psychiatry 2014
Adriano Chiò Stefania Battistini Andrea Calvo Claudia Caponnetto Francesca L Conforti Massimo Corbo Fabio Giannini Jessica Mandrioli Gabriele Mora Mario Sabatelli Clara Ajmone Enza Mastro Debora Pain Paola Mandich Silvana Penco Gabriella Restagno Marcella Zollino Antonella Surbone

The clinical approach to patients with amyotrophic lateral sclerosis (ALS) has been largely modified by the identification of novel genes, the detection of gene mutations in apparently sporadic patients, and the discovery of the strict genetic and clinical relation between ALS and frontotemporal dementia (FTD). As a consequence, clinicians are increasingly facing the dilemma on how to handle ge...

Journal: :Neurology 1992
O D Uchitel F Scornik D A Protti C G Fumberg V Alvarez S H Appel

We investigated the role of the immune system in the pathogenesis of amyotrophic lateral sclerosis (ALS) by studying the long-term consequences of ALS immunoglobulin (Ig) application on the levator auris muscle of the mouse. We applied Ig from seven ALS patients, four disease controls, and a pool of normal Ig (6 mg of Ig in 2 weeks) by subcutaneous injection; removed the muscles 4 to 12 weeks a...

Journal: :The Journal of endocrinology 2006
Jin W Kim Robert P Rhoads Nthabisheng Segoale Niels B Kristensen Dale E Bauman Yves R Boisclair

During the transition from pregnancy to lactation, dairy cows experience a 70% reduction in plasma IGF-I. This reduction has been attributed to decreased hepatic IGF-I production. IGF-I circulates predominantly in multi-protein complexes consisting of one molecule each of IGF-I, IGF binding protein-3 and the acid labile subunit (ALS). Recent studies in the mouse have shown that absence of ALS r...

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