$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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Authors: Astudillo L, Laure A, Fabry V, Pugnet G, Maury P, Labrunée M, Sailler L, Pavy-Le Traon A Abstract Postural tachycardia syndrome (PoTS) is a multifactorial syndrome defined by an increase in heart rate ≥30bpm, within 10minutes of standing (or during a head up tilt test to at least 60°), in absence of orthostatic hypotension. It is associated with symptoms of cerebral hypoperfusion that are worse when upright and improve in supine position. Patients have an intense fatigue with a high incidence on quality of life. This syndrome can be explained by many pathophysiological mechanisms. It can be a...
Source: Revue de Medecine Interne - Category: Internal Medicine Tags: Rev Med Interne Source Type: research
Publication date: Available online 18 June 2018 Source:Arthroscopy Techniques Author(s): Jillian Karpyshyn, Erin E. Gordey, Catherine M. Coady, Ivan H. Wong Posterior shoulder instability is an uncommon and challenging cause of shoulder pain and dysfunction. Surgical management has less reliable results and higher failure rates compared with techniques for anterior shoulder instability. The presence of generalized ligamentous laxity further complicates options for surgical management. If primary capsulolabral repair fails, controversy exists as to the optimal revision procedure. This technical description and video presen...
Source: Arthroscopy Techniques - Category: Surgery Source Type: research
Clinical Case Reports, EarlyView.
Source: Clinical Case Reports - Category: General Medicine Authors: Source Type: research
Journal of Gastroenterology and Hepatology, EarlyView.
Source: Journal of Gastroenterology and Hepatology - Category: Gastroenterology Authors: Source Type: research
Mast cell activation disorders (MCADs) consist of episodic systemic symptoms due to mast cell mediator release. Diagnosis is based on clinical presentation and determination of high levels of tryptase or histamine. Ehlers-Danlos syndrome (EDS) and postural tachycardia syndrome (POTS) frequently coexist. It has been described that individuals with these syndromes can even present symptoms compatible to MCADs, which could represent a new specific phenotype. Preliminary genetic data suggest a role for tryptase in the pathogenesis of MCADs, EDS, and POTS association. Studies with larger samples evaluating clinics, genetics, an...
Source: Immunology and Allergy Clinics of North America - Category: Allergy & Immunology Authors: Source Type: research
Megan King, 28, from Lake Zurich, Illinois, has had to undergo 34 operations after being diagnosed with Ehlers-Danlos syndrome, a rare genetic disorder which affects connective tissues.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
Abstract Joint hypermobility is a common, primarily benign finding in the general population. However, in a subset of individuals joint hypermobility causes a range of clinical problems mainly affecting the musculoskeletal system and, to a lesser extent, extra-articular disorders. Joint hypermobility often appears as a familial trait and is shared by several inherited connective tissue disorders, including the hypermobility subtype of Ehlers-Danlos syndrome (hEDS) and benign joint hypermobility syndrome (BJHS/JHS). Although joint hypermobility has primarily been thought of as a rheumatological disorder, increasing...
Source: The American Journal of the Medical Sciences - Category: General Medicine Authors: Tags: Am J Med Sci Source Type: research
Ehlers-Danlos syndrome (EDS) is among a family of disorders that involve the connective tissue. EDS can lead to multiple potential cardiovascular abnormalities related to fragility of arteries, veins, and valves, as well as their treatment because of altered wound and vessel healing. Such challenges and complications can be manifest in relatively normal procedures, such as implantable cardioverter-defibrillator (ICD) insertion. Garg et  al (https://doi.org/10.1016/j.hrcr.2018.03.008) present the case of a 59-year-old woman with EDS and recurrent idiopathic ventricular tachycardia associated with syncope.
Source: Heart Rhythm - Category: Cardiology Authors: Tags: EP News Source Type: research
Marfan Syndrome (MFS) and Ehlers-Danlos Syndrome (EDS) represent two connective tissue vascular diseases requiring unique consideration in their vascular surgical (VS) care. A comprehensive national review encompassing all hospitalizations for the MFS and EDS patient population is lacking.
Source: Journal of Vascular Surgery - Category: Surgery Authors: Source Type: research
Discussion Teeth are specialized anatomic parts of the human body that are developed between the ectoderm and ecomesenchyme in a complex process called odontogenesis. More than 300 genes have been identified that influence odontogenesis. Dental abnormalities can have significance for cosmesis, malocclusion, dental caries and periodontal diseases. It is not uncommon for more than 1 area to be affected. For example, Hutchinson teeth which are caused by congenital syphilis are smaller with wider spacing between the teeth within the arch, and also have a characteristic notching. Learning Point Some common dental problems that...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
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