A newly discovered case of progressive muscular dystrophy caused by exon deletion mutation of Duchenne muscular dystrophy gene 12-28.

A newly discovered case of progressive muscular dystrophy caused by exon deletion mutation of Duchenne muscular dystrophy gene 12-28. J Biol Regul Homeost Agents. 2019 Nov 05;33(6): Authors: Li BT, Chen JX, Li HA, Huang XY PMID: 31698894 [PubMed - as supplied by publisher]
Source: Journal of Biological Regulators and Homeostatic Agents - Category: Biomedical Science Tags: J Biol Regul Homeost Agents Source Type: research

Related Links:

ABSTRACT Duchenne muscular dystrophy (DMD) is a disease characterized by progressive loss of muscle fiber, gradually from proximal to distal. Although a few studies have investigated hand grip strength in non-ambulatory DMD patients, a lack of literature was found determining its relationship with functional capacity. Objective: The aim of this study was to determine the associations between hand grip strength and functional measures in non-ambulatory children with DMD. Methods: Hand grip strength was evaluated using a dynamometer in children with DMD. The children with DMD were evaluated with the Turkish version of the Eg...
Source: Arquivos de Neuro-Psiquiatria - Category: Neurology Source Type: research
Publication date: January 2020Source: Artificial Intelligence in Medicine, Volume 102Author(s): Wenping Tang, Aiqun Wang, S. Ramkumar, Radeep Krishna Radhakrishnan NairAbstractParalyzed patients were increasing day by day. Some of the neurodegenerative diseases like amyotrophic lateral sclerosis, Brainstem Leison, Stupor and Muscular dystrophy affect the muscle movements in the body. The affected persons were unable to migrate. To overcome from their problem they need some assistive technology with the help of bio signals. Electrooculogram (EOG) based Human Computer Interaction (HCI) is one of the technique used in recent ...
Source: Artificial Intelligence in Medicine - Category: Bioinformatics Source Type: research
No abstract available
Source: Neurology Today - Category: Neurology Tags: At the Bench Source Type: research
Authors: Angelini C, Marozzo R, Pegoraro V Abstract Becker muscular dystrophy (BMD) has onset usually in childhood, frequently by 11 years. BMD can present in several ways such as waddling gait, exercise related cramps with or without myoglobinuria. Rarely cardiomyopathy might be the presenting feature. The evolution is variable. BMD is caused by dystrophin deficiency due to inframe deletions, mutations or duplications in dystrophin gene (Xp21.2) We review here the evolution and current therapy presenting a personal series of cases followed for over two decades, with multifactorial treatment regimen. Early treatmen...
Source: Acta Myologica - Category: Neurology Tags: Acta Myol Source Type: research
In conclusion, the majority of Serbian LGMD2A patients have the same mutation and similar phenotype. PMID: 31788660 [PubMed - in process]
Source: Acta Myologica - Category: Neurology Tags: Acta Myol Source Type: research
Condition:   Duchenne Muscular Dystrophy (DMD) Interventions:   Drug: ASP0367;   Drug: Placebo Sponsor:   Astellas Pharma Inc Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
In conclusion, this study demonstrates that dystrophic skeletal muscles express and secrete significant levels of FGF‐21, which negatively regulates bone homeostasis and represents an important patho logical factor for the development of bone abnormalities in DMD. The current study highlights the importance of muscle/bone cross talk via muscle derived factors (myokines) in the pathogenesis of bone abnormalities in DMD.This article is protected by copyright. All rights reserved.
Source: Journal of Bone and Mineral Research - Category: Orthopaedics Authors: Tags: Original Article Source Type: research
We cover a lot of news and announcements about digital health technologies to provide context for you. Even within The Medical Futurist team, there are favorite technologies and trends. And we thought it would be time to share the technologies we’re excited about! With advancements in exoskeleton technology, A.I.’s ever-increasing importance in healthcare and technologies like 5G and quantum computing soon going mainstream, there’s much to be excited about! Without further ado, let’s jump in! 1. Quantum Computing: faster, cheaper and safer Late last month, Google claimed “quantum suprema...
Source: The Medical Futurist - Category: Information Technology Authors: Tags: Future of Medicine digital health Healthcare technology digital technology Source Type: blogs
Amber Guzman, 32, from Long Beach, California, has muscular dystrophy. The incurable condition has left Amber in a wheelchair.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
Loss of dysferlin (DYSF) protein in humans results in limb-girdle muscular dystrophy 2B, characterized by progressive loss of muscles in the distal limbs with impaired locomotion. The DYSF-null (Bla/J) mouse develops severe steatotic muscles upon aging. Here, we report a marked increase in adipocytes, especially in the psoas and gluteus muscles but not in the soleus and tibialis anterior muscles in aged Bla/J mice compared with WT mice. There was a robust upregulation in the mRNA expression of enzymes involved in lipogenesis and triacylglycerol (TAG) synthesis pathways in the steatotic skeletal muscles. Lipidomic analysis ...
Source: The Journal of Lipid Research - Category: Lipidology Authors: Tags: Research Articles Source Type: research
More News: Biomedical Science | Genetics | Muscular Dystrophy | Reflex Sympathetic Dystrophy