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Your search returned 17 results
from the time period: last 30 days.
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... clinical seizures, and behavioral and cognitive functions in girls with Rett syndrome.We used a prospective randomized, open-label trial in fast ... examine the effect of dextromethorphan on core clinical features of Rett syndrome... The Rett Syndrome Severity Scale provided a clinical global impression of the effect ... for use in 3- to 15-year-old girls with Rett syndrome.
Rett Syndrome (8), more mentions
Neuro-degenerative diseases
AbstractText: Worldwide prevalence estimates of Huntington disease (HD) vary widely, with no reliable information regarding the Jewish ... from symptom onset to diagnosis, gender, years of education, Unified Huntington Disease Rating Scale scores, or the Montreal Cognitive Assessment scores AbstractText ... relatively small subpopulations of Jews: Mountain Jews and Karaites Keyword: Huntington disease.
Huntington Disease (4), Movement Disorders (1), more mentions
No Abstract Available
Movement disorders : official journal of the Movement Disorder Society
The purpose of this study was to inform the design of randomized clinical trials in early-stage manifest Huntington's disease through analysis of longitudinal data from TRACK-Huntington's Disease (TRACK-HD), a multicenter observational study.We compute sample sizes required for trials with candidate clinical, functional, and imaging outcomes, whose ...
Neurological and Central Nervous System Diseases (3)
Huntington Disease (3), Atrophy (2), Movement Disorders (1), more mentions
Parkinsonism & related disorders
Sleep and circadian rhythm disturbances are common in patients with neurodegenerative diseases such as Huntington's disease (HD. The aim of this study was to evaluate variability in circadian blood pressure (BP) to determine the association between abnormal circadian BP and sleep quality in patients with HD.Cross-sectional, multicenter study of 38 HD mutation carriers (23 premanifest and 15 early ...
Neurological and Central Nervous System Diseases (2)
Huntington Disease (2), Neurodegenerative Diseases (1), more mentions
The Journal of hand surgery
PURPOSE: Soft tissue surgery for upper extremity contractures can improve hygiene, pain, and appearance in adults with central nervous system lesions. The goal of such interventions is highly individual; thus, goal attainment scaling (GAS; a method of scoring the extent to which patient's individual goals are achieved [5 levels] in the course of intervention and using T score values) is pertinent to evaluate outcome. The objective of this study was to assess the effect of soft tissue surgery for upper extremity muscle contractures in patients with central nervous system lesions using GAS. METHODS: Retrospective data from 70 interventions were included (63 patients; 23 women). The mean age was 51.3 ± 16.2 years (range, 24.2-87.0 years). The primary goal was to improve hygiene (n = 58), pain (n = 10), or appearance (n = 2). The etiologies were stroke (n = 35), traumatic brain injury (n = 16), cerebral anoxia (n = 4), neurodegenerative disease (n = 6), and cerebral palsy (n = 2). The GAS score was calculated before surgery and 3 months after surgery. RESULTS: The T score (which took into account the weight of each goal) was 52.3 at 3 months (38.5 before surgery), corresponding to a "better than expected" outcome. The mean of the differences of the GAS score for each goal before and after surgery increased by 1.27 for hygiene, 1.06 for pain, and 1.00 for appearance. CONCLUSIONS: Soft tissue surgery can safely and effectively improve hygiene, pain, and appearance in adults with cerebral damage. The preoperative evaluation should be multidisciplinary. The GAS is a useful tool to assess the effectiveness of orthopedic surgery for these patients. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.
Muscular and Skeletal Diseases (1), Cardiovascular Diseases (1)
Contracture (2), Stroke (1), Brain Anoxia (1), more mentions
... To analyze gastrointestinal (GI) manifestations, their progression over time, and medications being used to treat GI symptoms in a large cohort of patients with myotonic dystrophy types 1 (DM1) and 2 (DM2) AbstractText: We analyzed patient-reported data and medical records in a national registry cohort at baseline and 5 ...
Gastrointestinal Diseases (1), Anti-Obesity and Weight Loss (1)
Myotonic Dystrophy (2), Gastroesophageal Reflux (1), more mentions
Journal of inherited metabolic disease
... p13.3) (n = 1), and non-genetic etiologies (n = 3) were also identified.We have classified the final 54 diagnoses in 11 distinctive biochemical profiles and described them through 20 clinical features. To identify the specific molecular cause of abnormal NT profiles, (targeted) genomics might be used, to improve diagnosis and allow early treatment of complex and rare neurological genetic diseases.
Chromosome Aberrations (1), more mentions
Neuromuscular disorders : NMD
Abstract: The Myotonic Dystrophy Health Index (MDHI) is a disease-specific, self-reported outcome ... measure that assesses total disease burden and 17 areas of Myotonic Dystrophy type 1 (DM1) specific health... to measure the multi-dimensional aspects of disease burden in Myotonic Dystrophy clinical trials Keyword: Italian validation... Keyword: Myotonic Dystrophy Health Index.
Muscular and Skeletal Diseases (1)
Myotonic Dystrophy (6), Muscular Dystrophies (1), more mentions
... by the accumulation of RNA foci and RAN proteins, raising the possibility of a mechanistic connection. We explored this question using myotonic dystrophy type 2, a multisystemic disease thought to be primarily caused by RNA gain-of-function effects. We demonstrate that the DM2 CCTG⋅CAGG expansion expresses sense and antisense tetrapeptide poly-(LPAC) and poly-(QAGR) RAN proteins, respectively.
Myotonic Dystrophy (2), more mentions
Muscle & nerve
Chloride conductance disturbances contribute to sarcolemmal dysfunction in type 1 (DM1) and 2 (DM2) myotonic dystrophy. Studies using muscle velocity recovery cycles (MVRCs) suggest Na(+) /K(+) -ATPase activation becomes defective in advanced DM1. We used MVRCs to investigate muscle excitability in DM1 and DM2.MVRCs were measured for patients with mild (n = 8) and advanced DM1 (n = 11), DM2 (n ...
Myotonic Dystrophy (1), more mentions
Human brain mapping
... related to aging and disease may preferentially affect the left-usually language- and motor-dominant-hemisphere. Here, we used activation likelihood estimation meta-analysis to assess gray matter (GM) loss and its lateralization in healthy aging and in neurodegeneration, namely, mild cognitive impairment (MCI), Alzheimer's dementia (AD), Parkinson's disease (PD), and Huntington's disease (HD... Keyword: Huntington's disease. Keyword: Parkinson's disease.
Neurological and Central Nervous System Diseases (5), Neuroscience (3)
Parkinson Disease (2), Huntington Disease (2), Dementia (2), more mentions
Journal of neuroinflammation
Laquinimod is in clinical development for the treatment of multiple sclerosis and Huntington Disease (HD. The objective of this study is to assess the safety, tolerability, pharmacokinetics (PK) and cytoimmunologic effects following escalating doses of laquinimod in patients with RRMS AbstractText: One hundred twelve patients were randomly assigned to laquinimod/placebo in a series of separate dose-escalating cohorts starting ...
Immune System Diseases (3)
Multiple Sclerosis (2), Huntington Disease (1), Relapsing-Remitting Multiple Sclerosis (1), more mentions
Abstract: Adaptive learning impairments are common in cognitive and behavioral disorders, but the neurogenetic mechanisms supporting human affective learning are poorly understood. We designed a higher-order contextual learning task in which healthy participants genotyped for the Val(66)Met polymorphism of the brain derived neurotropic factor gene (BDNF) were required to choose the member of a picture pair most ...
Journal of neurology, neurosurgery, and psychiatry
AbstractText: Over the past years, positron emission tomography (PET) imaging studies have investigated striatal molecular changes in premanifest and manifest Huntington's disease (HD) gene expansion carriers (HDGECs), but they have yielded inconsistent results AbstractText: To systematically examine the evidence of striatal molecular alterations in manifest ... Keyword: huntington’s disease gene carriers.
Neurological and Central Nervous System Diseases (1)
Huntington Disease (1), more mentions
16. Huntingtin Fibrils Poke Membranes.  
Date: 09/22/2017
A hallmark of Huntington's disease is the presence of intracellular aggregates of mutant huntingtin, the pathological significance of which has long been debated. Using cryo-electron tomography, Bauerlein et al. reveal the fibrillary structure of huntingtin aggregates in situ and show that huntingtin fibrils interact with the endoplasmic reticulum, distorting its morphology and dynamics.
Neurological and Central Nervous System Diseases (1)
Huntington Disease (1), more mentions
BMC musculoskeletal disorders
AbstractText: Malalignment of the ankle joint has been found after trauma, by neurological disorders, genetic predisposition and other unidentified factors, and results in asymmetrical joint loading. For a medial open wedge supramalleolar osteotomy(SMO), there are some debates as to whether concurrent fibular osteotomy should be performed. We assessed the changes in motion of ankle joint and plantar pressure after ...
Muscular and Skeletal Diseases (1)
Osteoarthritis (2), Nervous System Diseases (1), more mentions