Results 31 to 40 of about 46,154 (289)

Follow-up study of sensory-motor polyneuropathy in Type 1 (insulin-dependent) diabetic subjects after simultaneous pancreas and kidney transplantation and after graft rejection [PDF]

open access: yes, 1991
The influence of successful simultaneous pancreas and kidney transplantation on peripheral polyneuropathy was investigated in 53 patients for a mean observation period of 40.3 months. Seventeen patients were followed-up for more than 3 years.
A. Abendroth   +16 more
core   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei   +4 more
wiley   +1 more source

Rare manifestation of a c.290 C\u3eT, p.Gly97Glu VCP mutation [PDF]

open access: yes, 2015
Introduction. The valosin-containing protein (VCP) regulates several distinct cellular processes. Consistent with this, VCP mutations manifest variable clinical phenotypes among and within families and are a diagnostic challenge. Methods.
Chou, Tsui-Fen   +9 more
core   +4 more sources

To Feed or Not to Feed? During Hemodialysis Session

open access: yesİstanbul Medical Journal, 2022
Introduction: Patients undergoing hemodialysis (HD) like to eat during HD sessions. To prevent coronavirus infection, health authorities recommended restriction of taking food and fluids.
Şennur Köse   +5 more
doaj   +1 more source

Dystonia and paroxysmal dyskinesias: under-recognized movement disorders in domestic animals? A comparison with human dystonia/paroxysmal dyskinesias. [PDF]

open access: yes, 2015
Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements, and postures.
Albanese   +116 more
core   +2 more sources

Muscle cramps and neuropathies in patients with allogeneic hematopoietic stem cell transplantation and graft-versus-host disease.

open access: yesPLoS ONE, 2012
ObjectiveGraft-versus-host disease (GVHD) is an immune-mediated multisystemic disorder and the leading cause of morbidity after allogeneic hematopoietic stem cell transplantation.
Peter D Kraus   +8 more
doaj   +1 more source

カベオリン異常症における特徴的な骨格筋MRI画像所見に関する検討 [PDF]

open access: yes, 2019
博士(医学) 甲第702号(主論文の要旨、要約、審査結果の要旨、本文),著者名:Kumiko IHIGURO・Takahiro NAKAYAMA・Masaru YOSHIOKA・Terumi MURAKAMI・Sachiko KAJINO・Minobu SHICHIJI・Takatoshi SATO・Naomi HINO-FUKUYO・Satoshi KURU・Makiko OSAWA・Satoru NAGATA・Mariko OKUBO・Nobuyuki MURAKAMI・Yukiko K ...
石黒 久美子
core   +2 more sources

Prevalence of Intradialytic Muscle Cramps and Quality of Life in Haemodialysis Patients

open access: yesJournal of Bahria University Medical and Dental College
Objective: The aim of this study was to find out prevalence of intradialytic muscle cramps and quality of life in hemodialysis patients.   Study design and settings: This was a cross-sectional study conducted in three different hospitals in ...
Somiya Naz   +5 more
doaj   +1 more source

Neurologist practice patterns in treatment of muscle cramps in Canada

open access: yesJournal of Foot and Ankle Research, 2013
Recently an article provided patient perspectives on therapies and perceived effectiveness in preventing muscle cramps. However, there are few studies evaluating physicians’ point of view in the management of this common symptom. In our study, we studied
Fat Mary Jane Lim   +2 more
doaj   +1 more source

Spinocerebellar Ataxia Type 2 [PDF]

open access: yes, 2012
1. Introduction: The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections.
Auburger, Georg   +3 more
core   +1 more source

Home - About - Disclaimer - Privacy