Surgical treatment of abdominal wall weakness and lumbar hernias in Ehlers-Danlos syndrome – Case report

Publication date: Available online 26 September 2020Source: International Journal of Surgery Case ReportsAuthor(s): Oliver Scheufler, Julian Ramin Andresen, Reimer Andresen
Source: International Journal of Surgery Case Reports - Category: Surgery Source Type: research

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Publication date: Available online 8 October 2020Source: Journal of Pediatric Surgery Case ReportsAuthor(s): Elize W. Lockhorst, Jasper van der Slegt, Eelco J. Veen, Dagmar I. Vos
Source: Journal of Pediatric Surgery Case Reports - Category: Surgery Source Type: research
ConclusionA review of patient outcomes after hybrid AWR highlights a trend towards shorter length of stay, lower hospital cost, and fewer complications without significant addition to operative time. Long-term studies on a larger number of patients are definitively needed to characterize the comprehensive benefits of this approach.
Source: Surgical Endoscopy - Category: Surgery Source Type: research
Condition:   Ventral Hernia Interventions:   Procedure: Repair of ventral hernia using biologic mesh;   Procedure: Repair of ventral hernia using suture repair or synthetic mesh Sponsor:   The University of Texas Health Science Center, Houston Not yet recruiting
Source: - Category: Research Source Type: clinical trials
Publication date: Available online 27 August 2020Source: Journal of Pediatric Surgery Case ReportsAuthor(s): Melissa Wong, Patrick J. Javid
Source: Journal of Pediatric Surgery Case Reports - Category: Surgery Source Type: research
Abstract Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders comprised of several types. Classic EDS is an autosomal dominant disorder with stretchable skin, delayed wound healing with poor scarring, joint hypermobility with subluxations or dislocations, easy bruisability, hernias, aneurysms and cardiac abnormalities. Advances in genomics technology using next-generation sequencing has led to the discovery of causative genes for connective tissue disorders, hereditary cardiomyopathies and cardiovascular diseases including several genes for connective tissue disorders. A 55 year-old...
Source: World Journal of Cardiology - Category: Cardiology Authors: Tags: World J Cardiol Source Type: research
Conclusions: The most common comorbidities in Danish patients with EDS were gastrointestinal functional disorders, hernias, asthma, pneumonia, and osteoporosis. The causality between these comorbidities and EDS should be investigated further.Implications for RehabilitationEhlers-Danlos syndrome constitutes a group of connective tissue diseases causing a variable range of organ dysfunction.The comorbidity burden for patients with Ehlers-Danlos syndrome was unexplored previously.This study showed that the most common comorbidities in Danish patients with Ehlers-Danlos syndrome are gastrointestinal functional disorders, herni...
Source: Disability and Rehabilitation - Category: Rehabilitation Authors: Tags: Disabil Rehabil Source Type: research
In this study we provide clinical and molecular presentation of two new patients with DSE related mcEDS. Analysing clinical exome data, a homozygous pathogenic DSE variant, c.1150_1157del p.(Pro384Trpfs*9), was identified in a 32 year old man with bilateral congenital talipes equinovarus, characteristic facial features, myopia, hyperextensible skin at the elbows, significant palmar wrinkling, bilateral inguinal hernias and chronic leg, back and joint pain. Electron microscopical examination of skin biopsy showed changes consistent with mild compensatory elastic fibre hypertrophy and mildly loose collagen bundles. The varia...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
Mutations of theCYP21A2 gene encoding adrenal 21-hydroxylase cause congenital adrenal hyperplasia (CAH). TheCYP21A2 gene is partially overlapped by theTNXB gene, which encodes an extracellular matrix protein called Tenascin-X (TNX). Mutations affecting both alleles ofTNXB cause a severe, autosomal recessive form of Ehlers-Danlos syndrome (EDS). Rarely, patients with severe, salt-wasting CAH have deletions ofCYP21A2 that extend intoTNXB, resulting in a “contiguous gene syndrome” consisting of CAH and EDS. Heterozygosity forTNXB mutations causing haploinsufficiency of TNX may be associated with the mild “hy...
Source: Hormone Research in Paediatrics - Category: Endocrinology Source Type: research
ConclusionsThis series describes 14 patients with a median follow-up of 50  months and a recurrence rate of 7.1%. The low recurrence rate could be explained by the use of large meshes that reinforce the entire midline to compensate for the reduced collagen strength in EDS patients.
Source: Hernia - Category: Sports Medicine Source Type: research
Current evidence suggests that an association exists between non‐inflammatory hereditary disorders of connective tissue such as the Ehlers–Danlos syndromes (EDS) and gastrointestinal (GI) symptoms. Patients with EDS can present with both structural problems such as hiatus hernias, visceroptosis, rectoceles, and rectal prolapse as well as functional problems such as disordered gut motility. It has recently been demonstrated that patients with hypermobile EDS (hEDS) present with GI symptoms related to the fore and hind‐gut and these patients frequently meet the criteria for functional gastrointestinal disorders suc...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Research Article Source Type: research
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