iontophoresis of epinephrine for assessment of neuromuscular junction response is a new technique that can improve diagnose of neuromuscular dysfunction. the purpose of this study was to investigate the effects of iontophoresis of epinephrine on neuromuscular junction response. iontophoresis of epinephrine solution (1mg/ml), sodium chloride, calcium gluconate, epinephrine with sodium chloride a...

Neurological diseases are common in inflammatory bowel disease (IBD) patients, but their exact prevalence is unknown. Method: We prospectively evaluated the presence of neurological disorders in 121 patients with IBD [51 with Crohn’s disease (CD) and 70 with ulcerative colitis (UC)] and 50 controls (gastritis and dyspepsia) over 3 years. Results: Our standard neurological evaluation (that inclu...

Many neuromuscular disorders affect more than skeletal muscle. Because of the common structural and now more apparent molecular features between skeletal and cardiac muscles, many of the neuromuscular disorders also result in cardiovascular complications. Cardiomyopathy and conduction system diseases are the most frequent extramuscular features seen with many muscular dystrophies. The most comm...

Treatment of neuromuscular diseases is still an unsolved problem. Evidence over the last years strongly indicates the involvement of malformation and dysfunction of neuromuscular junctions in the development of such medical conditions. Stabilization of NMJs thus seems to be a promising approach to attenuate the disease progression of muscle wasting diseases. An important pathway for the formati...

This article shortly examines the biography, scientific activity and scientific work on neuromuscular diseases of the famous Russian neurologist Vladimir Roth who was the founder of neuromuscular disorders study in Russia. In 1876 he was the first in Russia who performed an autopsy and a detailed histological study of a case of progressive muscular atrophy, in which he did not find changes in t...

BACKGROUND Pulse oximetry alone has been suggested to determine which patients on home mechanical ventilation (MV) require further investigation of nocturnal gas exchange. In patients with neuromuscular diseases, alveolar hypoventilation (AH) is rarely accompanied with ventilation-perfusion ratio heterogeneity, and, therefore, oximetry may be less sensitive for detecting AH than in patients wi...

New genomic technologies, such as exome, whole-genome and transcriptome sequencing, are transforming the genetic diagnosis of neuromuscular diseases and dramatically accelerating the discovery of new disease-associated genes. The increasingly widespread availability of these technologies creates both opportunities and challenges for neuromuscular disease researchers. Here we survey the current ...

-------------------------------------------------------------------ABSTRACT-----------------------------------------------------------------In this paper, we discuss the implementation of a rule based expert system for diagnosing neuromuscular diseases. The proposed system is implemented as a rule based expert system in JESS for the diagnosis of Cerebral Palsy, Multiple Sclerosis, Muscular Dyst...

Proteins involved in membrane remodeling play an essential role in a plethora of cell functions including endocytosis and intracellular transport. Defects in several of them lead to human diseases. Myotubularins, amphiphysins, and dynamins are all proteins implicated in membrane trafficking and/or remodeling. Mutations in myotubularin, amphiphysin 2 (BIN1), and dynamin 2 lead to different forms...

Feeding and swallowing problems in infants and children have a great impact on health and wellbeing. The aim of this study was to provide an overview of recognized feeding and swallowing problems in different groups of children with neuromuscular diseases, based on relevant literature and expert opinion, and to propose recommendations for the assessment and treatment of these problems. Almost a...