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$1 million gift to fund Ehlers Danlos syndrome research at BCM

Baylor College of Medicine geneticist Dr. Brendan Lee plans to use a new $1 million gift to gain understanding of Ehlers Danos syndrome, an incurable tissue disorder.
Source: Baylor College of Medicine News - Category: Universities & Medical Training Source Type: news

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Myopathies comprise a heterogeneous group of disorders characterized by variable phenotypes. The increasing use of next-generation sequencing allows identification of the causative genes in a much higher percentage of patients with hereditary muscle disorders and also illustrates a considerable degree of overlap with other clinical entities, including connective tissue disorders. Here, we present a 14-year-old German patient who was initially suspected to suffer from myopathy based on his clinical, radiological, and muscle biopsy findings. Exome sequencing revealed a novel homozygous nonsense mutation in theSLC39A13gene, c...
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research
Dr Larry Nassar allegedly told one of his victims that he knew she had EDS, a connective tissue disorder, based on the elasticity of her vagina. We explain the condition he claimed to be diagnosing.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
PMID: 29323927 [PubMed - as supplied by publisher]
Source: American Journal of Respiratory and Critical Care Medicine - Category: Respiratory Medicine Authors: Tags: Am J Respir Crit Care Med Source Type: research
Abstract The purpose of this case report is to present a multimodal approach for patient management using the Maitland concept framework for cervical and lumbar radiculitis with an underlying diagnosis of Ehlers-Danlos Syndrome-Hypermobility Type (EDS-HT). This case presents care guided by evidence, patient values, and rationale for the selected course of physical therapy treatment provided by therapist experience. A 35-year-old female with a 2-year history of worsening lumbar and cervical pain was referred to physical therapy to address these musculoskeletal issues concurrent with diagnostic testing for EDS. A mu...
Source: Physiotherapy Theory and Practice - Category: Physiotherapy Authors: Tags: Physiother Theory Pract Source Type: research
Dermal fibroblast-to-myofibroblast transition sustained by αvß3 integrin-ILK-Snail1/Slug signaling is a common feature for hypermobile Ehlers-Danlos syndrome and hypermobility Spectrum disorders. Biochim Biophys Acta. 2018 Jan 05;: Authors: Zoppi N, Chiarelli N, Binetti S, Ritelli M, Colombi M Abstract Hypermobile Ehlers-Danlos syndrome (hEDS) is a heritable connective tissue disorder with unknown molecular basis mainly characterized by generalized joint hypermobility, joint instability complications and minor skin changes. The phenotypic spectrum is broad and includes multiple associated ...
Source: Biochimica et Biophysica Acta - Category: Biochemistry Authors: Tags: Biochim Biophys Acta Source Type: research
Contributor : Nicola ChiarelliSeries Type : Expression profiling by arrayOrganism : Homo sapiensAnalysis of gene expression profiling of cultured skin fibroblasts obtained from patients affected with vascular Ehlers Danlos syndrome (vEDS)Transcriptome-wide expression profiling using the Affymetrix Gene 1.0 ST platform comparing the gene expression pattern of cultured skin fibroblasts derived from three patients with vEDS with those of nine healthy individuals
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by array Homo sapiens Source Type: research
Tracheobronchomegaly (TBM) is a rare disease of unknown etiology, characterized by dilatation of the trachea and main bronchi. Despite its rarity, TBM has been reported to accompany several conditions, particularly Ehlers-Danlos syndrome. Herein, we report on a 15-year-old patient who was diagnosed with TBM on the basis of radiologic and endoscopic findings and with Ehlers-Danlos syndrome type IVB presenting with marfanoid features, severe kyphoscoliosis, increased skin elasticity, and ongoing hypotonia since the neonatal period.
Source: Journal of Bronchology and Interventional Pulmonology - Category: Respiratory Medicine Tags: Case Reports Source Type: research
In this study, to investigate the effects of TNX absence on wound healing-related properties, we performed collagen gel contraction assays with wild-type (WT) and TNX-KO mouse embryonic fibroblasts (MEFs). Collagen gels with embedded TNX-KO MEFs showed significantly greater contraction than those containing WT MEFs. Subsequently, we assessed collagen gel contraction-related properties, such as the activities of matrix metalloproteinase (MMP)-2 and MMP-9 and the protein and mRNA expression levels of transforming growth factor β1 (TGF-β1) in the collagen gels. The activities of MMP-2 and MMP-9 and the expression le...
Source: Experimental Cell Research - Category: Cytology Authors: Tags: Exp Cell Res Source Type: research
A woman starts a website to help disabled people navigate hospitals and flag up their facilities.
Source: BBC News | Health | UK Edition - Category: Consumer Health News Source Type: news
Tracheobronchomegaly (TBM) is a rare disease of unknown etiology, characterized by dilatation of the trachea and main bronchi. Despite its rarity, TBM has been reported to accompany several conditions, particularly Ehlers-Danlos syndrome. Herein, we report on a 15-year-old patient who was diagnosed with TBM on the basis of radiologic and endoscopic findings and with Ehlers-Danlos syndrome type IVB presenting with marfanoid features, severe kyphoscoliosis, increased skin elasticity, and ongoing hypotonia since the neonatal period.
Source: Journal of Bronchology and Interventional Pulmonology - Category: Respiratory Medicine Tags: Case Reports Source Type: research
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