3,818 results match your criteria Ehlers-Danlos Syndrome


Genetic basis of hereditary thoracic aortic aneurysms and dissections.

J Cardiol 2019 Apr 15. Epub 2019 Apr 15.

Department of Cardiovascular Medicine, The University of Tokyo Hospital, Tokyo, Japan.

Recent advances in DNA sequencing technology have identified several causative genes for hereditary thoracic aortic aneurysms and dissections (TAADs), including Marfan syndrome (MFS), Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, and familial non-syndromic TAADs. Syndromic TAADs are typically caused by pathogenic variants in the transforming growth factor-β signal and extracellular matrix-related genes (e.g. Read More

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http://dx.doi.org/10.1016/j.jjcc.2019.03.014DOI Listing

Vascular Ehlers-Danlos Syndrome Management: The Paris Way, A Step Forward on a Long Road.

J Am Coll Cardiol 2019 Apr;73(15):1958-1960

Department of Cardiology, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1016/j.jacc.2019.02.025DOI Listing

Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study.

J Am Coll Cardiol 2019 Apr;73(15):1948-1957

AP-HP, Hôpital Européen Georges Pompidou, Département de Génétique, Centre de Référence des Maladies Vasculaires Rares, Paris, France; INSERM, U 970, Paris Centre de Recherche Cardiovasculaire-PARCC, Paris, France; Université Paris Sorbonne Cité, Faculté de Médecine Paris Descartes, Paris, France. Electronic address:

Background: Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic connective tissue disorder secondary to pathogenic variants within the COL3A1 gene, resulting in exceptional arterial and organ fragility and premature death. The only published clinical trial to date demonstrated the benefit of celiprolol on arterial morbimortality.

Objectives: The authors herein describe the outcomes of a large cohort of vEDS patients followed ≤17 years in a single national referral center. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S07351097193369
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http://dx.doi.org/10.1016/j.jacc.2019.01.058DOI Listing
April 2019
1 Read

Hypermobile type Ehlers-Danlos syndrome associated with hypogammaglobulinemia and fibromyalgia: A case-based review on new classification, diagnosis, and multidisciplinary management.

Clin Case Rep 2019 Apr 19;7(4):680-685. Epub 2019 Feb 19.

Internal Medicine Residency Program Brookwood Baptist Health Birmingham Alabama.

Hypermobile type Ehlers-Danlos syndrome (hEDS) is an underdiagnosed connective tissue disorder characterized by generalized joint hypermobility, chronic fatigue, widespread joints pain, and impaired quality of life. Here, we reported the first hEDS complicated by hypogammaglobulinemia. New insights into classification, diagnosis, and proper management of hEDS are also reviewed. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ccr3.2070
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http://dx.doi.org/10.1002/ccr3.2070DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452458PMC
April 2019
6 Reads

Re: Condylectomy: treatment of recurrent unilateral dislocation of the temporomandibular joint in a patient with Ehlers-Danlos syndrome.

Br J Oral Maxillofac Surg 2019 Apr 13. Epub 2019 Apr 13.

Maxillofacial Surgery Department, Academic Hospital of Udine, Department of Medicine, University of Udine.

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http://dx.doi.org/10.1016/j.bjoms.2019.03.019DOI Listing
April 2019
1 Read

[Up-to-date classification and multidisciplinary symptoms of Ehlers-Danlos syndromes].

Orv Hetil 2019 Apr;160(16):603-612

Bőr-, Nemikórtani és Bőronkológiai Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest, Üllői út 26., 1085.

In this review article, the authors summarize the clinical aspects of the novel classification of Ehlers-Danlos syndrome, which is a group of rare, hereditary connective tissue disorders. The leading symptom of the Ehlers-Danlos syndrome group is joint hypermobility, skin hyperextensibility and generalized tissue fragility. Ehlers-Danlos syndrome displays a high clinical and genetic heterogeneity and harbors many multidisciplinary properties. Read More

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https://www.akademiai.com/doi/10.1556/650.2019.31351
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http://dx.doi.org/10.1556/650.2019.31351DOI Listing
April 2019
5 Reads

Elastosis perforans serpiginosa related to vascular Ehlers-Danlos syndrome.

Dermatol Online J 2019 Mar 15;25(3). Epub 2019 Mar 15.

Department of Dermatology and Allergy Centre, Odense University Hospital, Odense.

Elastosis perforans serpiginosa (EPS) is a rare skin disease with elimination of connective tissue fibers from dermis to epidermis. The typical presentation shows hyperkeratotic red or skin-colored papules arranged in a circinate pattern. We present a 26-year-old woman with EPS known to have vascular Ehlers-Danlos syndrome. Read More

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March 2019
3 Reads

Absence of lingual frenulum in children with Ehlers-Danlos Syndrome: a retrospective study of forty cases and literature review of a twenty years long debate.

Minerva Pediatr 2019 04 5. Epub 2019 Apr 5.

Department of Pediatrics, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy.

Background: Ehlers-Danlos syndrome is part of connective tissue disorders and is characterized by skin hyperextensibility, joint hypermobility, easy bruising and other severe manifestations such as epilepsy, pneumothorax, arterial rupture and bowel perforation. In 2017 a new classification was published, indicating major and minor criteria for each form of EDS. Further reports in the past years tried to determine whether or not the absence of lingual frenulum should be included in minor criteria for the diagnosis of EDS, but a consensus has still not been reached. Read More

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http://dx.doi.org/10.23736/S0026-4946.19.05530-0DOI Listing

Natural History and Surgical Management of Colonic Perforations in Vascular Ehlers-Danlos Syndrome: a Retrospective Review.

Dis Colon Rectum 2019 Apr 1. Epub 2019 Apr 1.

Background: Vascular Ehlers-Danlos syndrome is a rare and severe genetic condition leading to spontaneous, potentially life-threatening arterial and digestive complications. Colonic ruptures are a common feature of the disease, but clear recommendations on their management are lacking.

Objective: This study aimed to identify surgery-related morbidity and 30-day postoperative mortality after colonic perforation. Read More

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http://dx.doi.org/10.1097/DCR.0000000000001383DOI Listing
April 2019
1 Read

Pain and gastrointestinal dysfunction are significant associations with psychiatric disorders in patients with Ehlers-Danlos syndrome and hypermobility spectrum disorders: a retrospective study.

Rheumatol Int 2019 Mar 28. Epub 2019 Mar 28.

Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, 60 Murray Street, Box 34, 3rd Floor, Room 400, Toronto, ON, M5T 3L9, Canada.

In this retrospective study, we investigate the frequency and types of psychiatric disorders and their relationship to systemic manifestations in a cohort of 391 Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorder (HSD) patients based on the current 2017 International Classification of EDS diagnostic criteria. A detailed, systematic retrospective chart review was undertaken for patients assessed for HSD or EDS at two Canadian health centres. Patients were diagnosed according to the Villefranche criteria and reclassified for this study according to the 2017 International Classification of EDS. Read More

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http://dx.doi.org/10.1007/s00296-019-04293-wDOI Listing
March 2019
1 Read

TNX deficiency results in bone loss due to an increase in multinucleated osteoclasts.

Biochem Biophys Res Commun 2019 May 25;512(4):659-664. Epub 2019 Mar 25.

Department of Biosignaling and Radioisotope Experiment, Interdisciplinary Center for Science Research, Organization for Research and Academic Information, Shimane University, 89-1 Enya-cho, Izumo, Shimane, 693-8501, Japan. Electronic address:

Tenascin-X (TNX), a glycoprotein of the extracellular matrix (ECM), is expressed in various tissues and plays an important role in ECM architecture. The TNXB gene encoding TNX is known as the gene responsible for classic-like Ehlers-Danlos syndrome (clEDS). To date, the role of TNX in dermal, muscular and obstetric features has been reported, but its role in bone homeostasis remains to be clarified. Read More

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http://dx.doi.org/10.1016/j.bbrc.2019.03.134DOI Listing
May 2019
1 Read

Accuracy of Clinical Diagnostic Criteria for Patients With Vascular Ehlers-Danlos Syndrome in a Tertiary Referral Centre.

Circ Genom Precis Med 2019 Mar;12(3):e001996

AP-HP, Hôpital Européen Georges Pompidou, Département de Génétique, Centre de Référence des Maladies Vasculaires Rares, Paris (P.H., J.A., S.A., A.L.,J.M.M., X.J., M.F.).

Background: Vascular Ehlers-Danlos syndrome is a rare inherited connective tissue disease secondary to mutations within the COL3A1 gene. The diagnosis of vascular Ehlers-Danlos syndrome is challenging, and patient selection for genetic testing relies on diagnostic criteria, which have never been evaluated.

Methods: All patients seen at a dedicated tertiary referral center for a suspicion of vascular Ehlers-Danlos syndrome between January 2001 and March 2016 were retrospectively included in a diagnostic accuracy study. Read More

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http://dx.doi.org/10.1161/CIRCGEN.117.001996DOI Listing

Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency.

Bone 2019 Mar 23;124:14-21. Epub 2019 Mar 23.

Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO 63110, USA.

B4GALT7 encodes beta-1,4-galactosyltransferase which links glycosaminoglycans to proteoglycans in connective tissues. Rare, biallelic variants in B4GALT7 have been associated with spondylodysplastic Ehlers-Danlos and Larsen of Reunion Island syndromes. Thirty patients with B4GALT7-related disorders have been reported to date with phenotypic variability. Read More

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http://dx.doi.org/10.1016/j.bone.2019.03.029DOI Listing
March 2019
1 Read

Hevesi M, Chaudhry AR, Wagner ER, Moran SL. Thumb carpometacarpal arthritis in patients with Ehlers-Danlos Syndrome: non-operative and operative experiences. J Hand Surg Eur. 2019, 44: 587-94.

J Hand Surg Eur Vol 2019 Mar 26:1753193419836367. Epub 2019 Mar 26.

Plastic Surgery Research Unit, Pinderfields General Hospital, Wakefield, UK.

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http://dx.doi.org/10.1177/1753193419836367DOI Listing

Connective Tissue and Age-Related Diseases.

Subcell Biochem 2019;91:281-310

Department of Pathology, College of Veterinary Medicine, The University of Georgia and AU/UGA Medical Partnership, Athens, GA, USA.

We begin this chapter by describing normal characteristics of several pertinent connective tissue components, and some of the basic changes they undergo with ageing. These alterations are not necessarily tied to any specific disease or disorders, but rather an essential part of the normal ageing process. The general features of age-induced changes, such as skin wrinkles, in selected organs with high content of connective or soft tissues are discussed in the next part of the chapter. Read More

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http://dx.doi.org/10.1007/978-981-13-3681-2_11DOI Listing
January 2019
1 Read

Exercise and sports participation in patients with thoracic aortic disease: a review.

Expert Rev Cardiovasc Ther 2019 Apr 21;17(4):251-266. Epub 2019 Mar 21.

a Department of Cardiology , Erasmus MC, University Medical Center Rotterdam , Rotterdam , The Netherlands.

Introduction: Current guidelines recommend patients with thoracic aortic disease (TAD) including inherited aortopathies to avoid heavy exercise. However, evidence supporting the negative advice on exercise is scarce. We aimed to provide an up-to-date systematic review of the available evidence on risks and benefits of exercise and sports participation in TAD patients. Read More

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http://dx.doi.org/10.1080/14779072.2019.1585807DOI Listing
April 2019
3 Reads

Gleno-humeral abduction measurement in patients with Ehlers-Danlos syndrome.

Authors:
David Cypel

Orthop Traumatol Surg Res 2019 Apr 15;105(2):287-290. Epub 2019 Mar 15.

Physical and Rehabilitation Medicine Department, Hôtel-Dieu Teaching Hospital, 75004 Paris, France. Electronic address:

Background: No genetic tests or other investigations are available to establish the definitive diagnosis of Ehlers-Danlos syndrome (EDS). A presumptive diagnosis can be made based on a converging set of findings, including a family history of the disease, the patient's medical history, and the physical findings. The Beighton score is currently the reference standard tool for assessing joint hypermobility, which must be present in at least 5 of 9 tested joints. Read More

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http://dx.doi.org/10.1016/j.otsr.2018.12.007DOI Listing

[Living with Ehlers-Danlos syndrome].

Rev Prat 2018 Nov;68(9):989-990

Présidente et cofondatrice de l'UNSED, atteinte du syndrome d'Ehlers-Danlos hypermobile (SEDh) et d'une leucémie, représentante des usagers de santé, patiente-experte.

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November 2018
7 Reads

Spontaneous perforation of small intestine followed by rupture of the cystic artery: the natural history of Vascular Ehlers-Danlos Syndrome.

Autops Case Rep 2019 Jan-Mar;9(1):e2018054. Epub 2019 Jan 17.

Mount Sinai Medical Center, AM Rywlin MD Department of Pathology and Laboratory Medicine. Miami Beach, FL, United States of America.

Vascular Ehlers-Danlos Syndrome (VEDS) is a rare autosomal dominant disorder caused by mutations in the or genes. Its mortality is secondary to sudden and spontaneous rupture of arteries or hollow organs. The genotype influences the distribution of arterial pathology with aneurysms of intra-abdominal visceral arteries being relatively uncommon. Read More

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http://www.autopsyandcasereports.org/article/doi/10.4322/acr
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http://dx.doi.org/10.4322/acr.2018.054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394365PMC
January 2019
8 Reads

New variants in gene among Polish patients with Ehlers-Danlos syndrome: analysis of nine cases.

Postepy Dermatol Alergol 2019 Feb 22;36(1):29-33. Epub 2019 Feb 22.

Department of Clinical Genetics, Faculty of Medicine, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland.

Introduction: The Ehlers-Danlos syndrome (EDS) is a non-inflammatory, heritable connective tissue disorder divided into 13 types according to the 2017 International Classification of the Ehlers-Danlos syndromes. One of the subtypes of EDS, classical (cEDS), is characterized by joint hypermobility, skin hyperextensibility and atrophic scars, which are major criteria of cEDS.

Aim: In this study, the first in Central Eastern Europe, 44 patients were investigated. Read More

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http://dx.doi.org/10.5114/ada.2018.79440DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6409875PMC
February 2019

Fracture incidence in Ehlers-Danlos syndrome - A population-based case-control study.

Child Abuse Negl 2019 May 8;91:95-101. Epub 2019 Mar 8.

Department of Pediatric and Adolescent Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA. Electronic address:

Background: The differential diagnosis of non-accidental injury during childhood includes medical conditions that predispose to skeletal fragility. Ehlers-Danlos syndrome (EDS) has been proposed as one such condition despite little objective evidence in the medical literature.

Objective: To investigate if EDS causes increased bone fragility during infancy and childhood. Read More

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http://dx.doi.org/10.1016/j.chiabu.2019.03.008DOI Listing

Increased prevalence of autonomic dysfunction due to postural orthostatic tachycardia syndrome in patients with eosinophilic gastrointestinal disorders.

J Gastrointestin Liver Dis 2019 Mar;28(1):47-51

Center for Esophageal Diseases and Swallowing, Center for Gastrointestinal Biology and Disease, Division of Gastroenterology and Hepatology, University of North Carolina School of Medicine, Chapel Hill, NC, USA.

Background And Aims: Eosinophilic gastrointestinal disorders (EGIDs) have been linked with atopic conditions, connective tissue disorders, and autoimmunity, but the association between EGIDs and autonomic dysfunction has not been extensively described. We aimed to assess this association and determine the prevalence of autonomic dysfunction in our EGID population.

Methods: In this retrospective cohort study, we analyzed adult patients in the University of North Carolina Eosinophilic Esophagitis (EoE)/EGID database who also had a diagnosis of comorbid autonomic dysfunction (postural orthostatic tachycardia syndrome [POTS] or gastroparesis). Read More

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http://dx.doi.org/10.15403/jgld.2014.1121.281.sydDOI Listing
March 2019
2 Reads

Anterior cervical corpectomy decompression and fusion for cervical kyphosis in a girl with Ehlers-Danlos syndrome: A case report.

World J Clin Cases 2019 Feb;7(4):532-537

Department of Spinal Surgery, The First Affiliated Hospital of USTC, Hefei 230036, Anhui Province, China.

Background: Spinal deformities in Ehlers-Danlos syndrome (EDS; type VI) are generally progressive and severe. Surgical treatment has been described for kyphoscoliosis in the thoracolumbar spine. However, there are few studies describing the consequences of an anterior approach in cervical kyphosis. Read More

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http://dx.doi.org/10.12998/wjcc.v7.i4.532DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6397823PMC
February 2019

Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility.

Genet Med 2019 Mar 6. Epub 2019 Mar 6.

Ehlers-Danlos Syndrome National Diagnostic Service London, North West Thames Regional Genetics Service, London North West Healthcare University NHS Trust, Harrow, Middlesex, UK.

Purpose: The Ehlers-Danlos syndromes (EDS) are a group of rare inherited connective tissue disorders. Vascular EDS (vEDS) is caused by pathogenic variants in COL3A1, most frequently glycine substitutions. We describe the phenotype of the largest series of vEDS patients with glutamic acid to lysine substitutions (Glu>Lys) in COL3A1, which were all previously considered to be variants of unknown significance. Read More

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http://dx.doi.org/10.1038/s41436-019-0470-9DOI Listing
March 2019
2 Reads
7.329 Impact Factor

Understanding the basis of Ehlers-Danlos syndrome in the era of the next-generation sequencing.

Arch Dermatol Res 2019 May 2;311(4):265-275. Epub 2019 Mar 2.

Regional Center of Ehlers-Danlos Syndrome, IRCCS Ca' Granda Foundation, Via San Barnaba 8, Milan, Italy.

Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) defined by joint laxity, skin alterations, and joint hypermobility. The latest EDS classification recognized 13 subtypes in which the clinical and genetic phenotypes are often overlapping, making the diagnosis rather difficult and strengthening the importance of the molecular diagnostic confirmation. New genetic techniques such as next-generation sequencing (NGS) gave the opportunity to identify the genetic bases of unresolved EDS types and support clinical counseling. Read More

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http://link.springer.com/10.1007/s00403-019-01894-0
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http://dx.doi.org/10.1007/s00403-019-01894-0DOI Listing
May 2019
9 Reads

Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2.

Am J Med Genet A 2019 May 1;179(5):846-851. Epub 2019 Mar 1.

Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.

Cardiac valvular Ehlers-Danlos syndrome (EDS) is a rare EDS subtype, caused by specific recessive variants in the gene encoding pro-α2-chain of type I collagen (COL1A2). Cardiac valvular EDS is mainly characterized by generalized/peripheral joint hypermobility, moderate-severe cardiac valvular disease, skin hyperextensibility and other minor soft tissues features. Only five molecularly confirmed patients have been reported to date. Read More

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http://dx.doi.org/10.1002/ajmg.a.61100DOI Listing
May 2019
4 Reads

Recurrent Depression and Borderline Personality Disorder in a Patient with Ehlers-Danlos Syndrome.

Cureus 2018 Dec 21;10(12):e3760. Epub 2018 Dec 21.

Internal Medicine, West Virginia School of Osteopathic Medicine, Lewisburg, USA.

Ehlers-Danlos syndrome is a group of connective tissue disorders that most commonly causes joint hypermobility, skin hyperextensibility, and tissue fragility. Patients diagnosed with Ehlers-Danlos syndrome (EDS) frequently suffer from chronic pain and other comorbid conditions. In addition, there is an increased incidence of psychiatry conditions in this patient population, such as anxiety, depression, and personality disorders. Read More

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http://dx.doi.org/10.7759/cureus.3760DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389018PMC
December 2018
1 Read

Characterizing adolescents with heavy menstrual bleeding and generalized joint hypermobility.

Pediatr Blood Cancer 2019 Jun 25;66(6):e27675. Epub 2019 Feb 25.

Division of Pediatric Hematology/Oncology, Nationwide Children's Hospital/The Ohio State University, Ohio, Columbus.

Patients with generalized joint hypermobility (JHM) may experience excessive bruising/bleeding, with heavy menstrual bleeding (HMB) commonly reported. We performed a retrospective review of 30 adolescents seen in a Young Women's Hematology Clinic with both HMB and JHM. We found that (1) a significant delay (mean 36 months, range 5-72) occurred between menarche and referral to specialty care, (2) HMB had moderate to severe impact on school and physical activities in 60% of patients, and (3) most patients (68%) required escalation of their initial therapy. Read More

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http://doi.wiley.com/10.1002/pbc.27675
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http://dx.doi.org/10.1002/pbc.27675DOI Listing
June 2019
7 Reads

A Review of the Dermatologic Symptoms of Idiopathic Mast Cell Activation Syndrome

J Drugs Dermatol 2019 Feb;18(2):162-168

Since the first reported cases in 2007, idiopathic mast cell activation syndrome has been increasingly recognized. Understanding of the cutaneous manifestations of this condition is imperative for dermatologists given the substantial clinical heterogeneity in its presentation and high estimated prevalence. A review of PubMed® and SCOPUS® databases was performed in order to investigate the most common dermatologic manifestations of idiopathic mast cell activation syndrome. Read More

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February 2019
4 Reads

Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers-Danlos syndrome.

Am J Med Genet A 2019 May 22;179(5):797-802. Epub 2019 Feb 22.

Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center at Houston, Houston, Texas.

Vascular Ehlers-Danlos syndrome (vEDS) is a connective tissue disorder due to defective type III collagen production and is associated with arterial rupture, spontaneous intestinal perforation, and gravid uterine rupture. Spontaneous pneumothorax and/or hemothorax (P/HTX) also occurs in vEDS patients. The temporal relation of pulmonary manifestations to arterial and intestinal complications in vEDS has not been well described. Read More

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http://dx.doi.org/10.1002/ajmg.a.61094DOI Listing

Comparison of tetradecyl sulfate versus polidocanol injections for stabilisation of joints that regularly dislocate in an Ehlers-Danlos population.

Authors:
Fraser Burling

BMJ Open Sport Exerc Med 2019 24;5(1):e000481. Epub 2019 Jan 24.

Rheumatology and Musculoskeletal Clinic, Remuera, New Zealand.

Objectives: To determine whether there is similarity between tetradecyl sulfate and polidocanol in stabilising a joint from dislocating in patients with Ehlers-Danlos syndrome (EDS).

Method: A retrospective analysis of patients with EDS in a sole-practice clinic in New Zealand. Patients must have had the diagnosis of EDS, had easily dislocatable joints, had treatment and at least 3 months' follow-up. Read More

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http://dx.doi.org/10.1136/bmjsem-2018-000481DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6350757PMC
January 2019

Vascular Type of Ehlers-Danlos Syndrome: A Case Report of an Aortic Dissection During Pregnancy.

Am J Case Rep 2019 Feb 22;20:233-237. Epub 2019 Feb 22.

Clinic for Cardiology, Pneumology and Angiology, University Hospital of Düsseldorf, Düsseldorf, Germany.

BACKGROUND Vascular type of Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder associated with a high prevalence rate of aortic dissection (AD). The coexistence of a pregnancy raises these rates and the diagnostic complexity of the situation. In this article, we present a different initial diagnostic approach to an acute aortic syndrome. Read More

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http://dx.doi.org/10.12659/AJCR.911688DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394140PMC
February 2019

Systematic review of quality of life in persons with hereditary thoracic aortic aneurysm and dissection diagnoses.

Clin Genet 2019 Feb 20. Epub 2019 Feb 20.

Departments of Social Work, Child Welfare and Social Policy, Faculty of Social Sciences, Metropolitan University of Oslo, Norway.

The purpose of this study was to explore the literature on quality of life (QoL) in patients with hereditary thoracic aortic aneurysm and dissection (HTAAD); including Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), vascular Ehlers-Danlos syndrome (vEDS) and other HTAAD diagnoses, critically appraising and synthesizing the relevant literature. A systematic review was performed by searching the published literature using available medical, physical, psychological, social databases and other sources. Studies addressing QoL in persons with an HTAAD diagnosis, published in peer-reviewed journals were assessed. Read More

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http://doi.wiley.com/10.1111/cge.13522
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http://dx.doi.org/10.1111/cge.13522DOI Listing
February 2019
5 Reads

Accuracy of Clinical Diagnostic Criteria for Patients with Vascular Ehlers-Danlos Syndrome in a Tertiary Referral Centre.

Circ Genom Precis Med 2019 Feb 20. Epub 2019 Feb 20.

AP-HP, Hôpital Européen Georges Pompidou, Département de Génétique, Centre de Référence des Maladies Vasculaires Rares & INSERM, U970, Paris centre de Recherche Cardiovasculaire-PARCC, Paris, France.

Background: Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disease secondary to mutations within the COL3A1 gene. The diagnosis of vEDS is challenging and patient selection for genetic testing relies on diagnostic criteria, which have never been evaluated.

Methods: All patients seen at a dedicated tertiary referral centre for a suspicion of vEDS between January 2001 and March 2016 were retrospectively included in a diagnostic accuracy study. Read More

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http://dx.doi.org/10.1161/CIRCGENETICS.117.001996DOI Listing
February 2019
2 Reads

Severity classes in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders: a pilot study of 105 Italian patients.

Rheumatology (Oxford) 2019 Feb 19. Epub 2019 Feb 19.

Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.

Objectives: This study is aimed at identifying discrete severity classes among adults with hypermobile Ehlers-Danlos syndrome (hEDS)/hypermobility spectrum disorders (HSD).

Methods: Subjects were selected according to the old and new nomenclatures and all completed a set of questionnaires exploring pain, fatigue, dysautonomic symptoms, coordination and attention/concentration deficits and quality of life in general. Data were investigated by hierarchical clustering on principal components. Read More

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http://dx.doi.org/10.1093/rheumatology/kez029DOI Listing
February 2019
3 Reads

Expanding the Clinical and Mutational Spectrum of Recessive -Related Classical-Like Ehlers-Danlos Syndrome.

Genes (Basel) 2019 Feb 12;10(2). Epub 2019 Feb 12.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.

Ehlers-Danlos syndrome (EDS) comprises clinically heterogeneous connective tissue disorders with diverse molecular etiologies. The 2017 International Classification for EDS recognized 13 distinct subtypes caused by pathogenic variants in 19 genes mainly encoding fibrillar collagens and collagen-modifying or processing proteins. Recently, a new EDS subtype, i. Read More

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http://dx.doi.org/10.3390/genes10020135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6410021PMC
February 2019
1 Read

Prevalence of Obstructive Sleep Apnea in Joint Hypermobility Syndrome: A Systematic Review and Meta-Analysis.

J Clin Sleep Med 2019 Feb 15;15(2):293-299. Epub 2019 Feb 15.

Drexel University, Philadelphia, Pennsylvania.

Study Objectives: Because of associated abnormalities affecting connective tissue in various organs including airways, hypermobility syndrome has been associated with high risk for the development sleep apnea. Ehlers-Danlos syndrome (EDS) and Marfan syndrome (MFS) represent the most common hypermobility syndromes; therefore, the purpose of this review was to examine the prevalence of obstructive sleep apnea (OSA) in these populations.

Methods: All publications and poster presentations written in English found through August 2018 that describe the prevalence of sleep apnea among people with EDS or MFS were included. Read More

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http://dx.doi.org/10.5664/jcsm.7636DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6374081PMC
February 2019
1 Read

Microneedling on the external female genitalia's flaccidity in patients with Ehlers-Danlos: Case report.

J Cosmet Dermatol 2019 Feb 7. Epub 2019 Feb 7.

Bahiana School of Medicine and Public Health, Salvador, Brazil.

Introduction: The Ehlers-Danlos Syndrome (EDS) can presentis a reduction in fibroblast proliferation and collagen production. Microneedling a minimally invasive technique that through mechanical stimulus there is incentive to the production of collagen and elastin.

Objective: Present a case study in a patient with EDS complaining of flaccidity on large genital labia, using microneedling as a therapeutic proposal. Read More

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http://dx.doi.org/10.1111/jocd.12867DOI Listing
February 2019
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SiMPLOD, a Structure-Integrated Database of Collagen Lysyl Hydroxylase (LH/PLOD) Enzyme Variants.

J Bone Miner Res 2019 Feb 5. Epub 2019 Feb 5.

The Armenise-Harvard Laboratory of Structural Biology, Department of Biology and Biotechnology, University of Pavia, Pavia, Italy.

PLOD genes encode for procollagen lysyl hydroxylase enzymes (LH/PLOD), a family of proteins essential for collagen biosynthesis. Several mutations affect these genes, causing severe disorders, such as Ehlers-Danlos and Bruck syndrome, as well a connective tissue disease with phenotype resembling osteogenesis imperfecta caused by lack of LH3 functions. The recently determined three-dimensional (3D) structures of the full-length human LH3/PLOD3 isoform, together with the structure of a fragment of a viral LH/PLOD homolog, are now allowing molecular mapping of the numerous disease-causing mutations, providing insights often suitable for the interpretation of the resulting disease phenotypes. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/jbmr.3692
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http://dx.doi.org/10.1002/jbmr.3692DOI Listing
February 2019
12 Reads

Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts.

PLoS One 2019 4;14(2):e0211647. Epub 2019 Feb 4.

Department of Molecular and Translational Medicine, Division of Biology and Genetics, University of Brescia, Brescia, Italy.

Classical Ehlers-Danlos syndrome (cEDS) is a dominant inherited connective tissue disorder mainly caused by mutations in the COL5A1 and COL5A2 genes encoding type V collagen (COLLV), which is a fibrillar COLL widely distributed in a variety of connective tissues. cEDS patients suffer from skin hyperextensibility, abnormal wound healing/atrophic scars, and joint hypermobility. Most of the causative variants result in a non-functional COL5A1 allele and COLLV haploinsufficiency, whilst COL5A2 mutations affect its structural integrity. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0211647PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6361458PMC
February 2019
2 Reads

Heritable disorders of connective tissue: Description of a data repository and initial cohort characterization.

Am J Med Genet A 2019 Apr 1;179(4):552-560. Epub 2019 Feb 1.

National Institute on Aging Intramural Research Program, National Institutes of Health, Baltimore, Maryland.

We describe a data repository on heritable disorders of connective tissue (HDCT) assembled by the National Institutes of Health's National Institute on Aging (NIA) Intramural Research Program between 2001 and 2013. Participants included affected persons with a wide range of heritable connective tissue phenotypes, and unaffected family members. Elements include comprehensive history and physical examination, standardized laboratory data, physiologic measures and imaging, standardized patient-reported outcome measures, and an extensive linked biorepository. Read More

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http://dx.doi.org/10.1002/ajmg.a.61054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467085PMC
April 2019
3 Reads

Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders.

Am J Med Genet A 2019 Apr 31;179(4):561-569. Epub 2019 Jan 31.

Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland.

Hypermobile Ehlers-Danlos syndrome (hEDS) is a hereditary disorder of connective tissue, often presenting with complex symptoms can include chronic pain, fatigue, and dysautonomia. Factors influencing functional disability in the pediatric hEDS population are incompletely studied. This study's aims were to assess factors that affect quality of life in children and adolescents with hEDS. Read More

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http://doi.wiley.com/10.1002/ajmg.a.61055
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http://dx.doi.org/10.1002/ajmg.a.61055DOI Listing
April 2019
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A case of broken bones and systems: The threat of irresponsible testimony.

Authors:
Natasha Shur

Am J Med Genet A 2019 Mar 29;179(3):429-434. Epub 2019 Jan 29.

Division of Genetics, Children's National Medical Center, Washington, District of Columbia.

A 2-month-old healthy baby presented to the emergency room with an arm that was not moving and was found to have multiple and extensive fractures of her long bones. An extensive medical work-up was done, and the hospital's multidisciplinary child abuse team was consulted, including child protection, genetics, radiology, and general pediatrics. It was determined that the history, clinical findings, radiographic findings, and laboratory findings were consistent with child abuse. Read More

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http://doi.wiley.com/10.1002/ajmg.a.61043
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http://dx.doi.org/10.1002/ajmg.a.61043DOI Listing
March 2019
4 Reads

The Genetics of Pneumothorax.

Am J Respir Crit Care Med 2019 Jan 25. Epub 2019 Jan 25.

Channing Division of Network Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, United States ;

A genetic influence on spontaneous pneumothoraces - those occurring without a traumatic or iatrogenic cause - is supported by several lines of evidence: 1) Pneumothorax can cluster in families (i.e. familial spontaneous pneumothorax); 2) Mutations in the FLCN gene have been found in both familial and sporadic cases; and 3) Pneumothorax is a known complication of several genetic syndromes. Read More

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https://www.atsjournals.org/doi/10.1164/rccm.201807-1212CI
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http://dx.doi.org/10.1164/rccm.201807-1212CIDOI Listing
January 2019
23 Reads

RETRACTED: Ehlers-Danlos syndrome caused by the c.934C>T, p. Arg312Cys mutation in COL1A1 gene: an Italian family without cardiovascular events.

Dermatol Online J 2018 09 15;24(9). Epub 2018 Sep 15.

Department of Clinical Sciences and Community Health, University of Milan, IRCCS Ca' Granda Foundation Via San Barnaba, Milan; Genetics Laboratory, IRCCS Ca' Granda Foundation, via Francesco Sforza 35, Milan.

The article entitled "Ehlers-Danlos syndrome caused by the c.934C>T, p. Arg312Cys mutation in COL1A1 gene: an Italian family without cardiovascular events" has been retracted because the description and characterization of the disease in a family may have been previously published. Read More

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September 2018

Prevalence of Functional GI Diseases and Pelvic Floor Symptoms in Marfan Syndrome and Ehlers-Danlos Syndrome: A National Cohort Study.

J Clin Gastroenterol 2019 Jan 21. Epub 2019 Jan 21.

Department of Medicine, Division of Gastroenterology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston.

Background And Aims: Prior studies have shown a high prevalence of gastrointestinal (GI) symptoms, diagnoses of functional GI diseases (FGIDs), and pelvic floor symptoms associated with Ehlers-Danlos syndrome (EDS). It is unclear if Marfan syndrome (MFS), another common hereditary noninflammatory connective tissue disorder, is also associated these symptoms. This study evaluates the prevalence of and compares FGIDs and pelvic floor symptoms in a national cohort of EDS and MFS patients. Read More

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http://dx.doi.org/10.1097/MCG.0000000000001173DOI Listing
January 2019
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Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome.

Hum Mol Genet 2019 Jan 22. Epub 2019 Jan 22.

Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University Hospital, 9000 Ghent, Belgium.

The Ehlers-Danlos syndromes (EDS) are a clinically and molecularly diverse group of heritable connective tissue disorders caused by defects in a wide range of genes. Recently, biallelic loss-of-function mutations in the AEBP1 gene were reported in three families with an autosomal recessive EDS-like condition characterized by thin and hyperextensible skin, poor wound healing with prominent atrophic scarring, joint hypermobility and osteoporosis. Using whole exome sequencing, we identified novel bi-allelic AEBP1 variants in two unrelated adult patients, previously diagnosed with an undefined EDS type which shows important clinical resemblance to several other EDS subtypes. Read More

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http://dx.doi.org/10.1093/hmg/ddz024DOI Listing
January 2019
1 Read