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    Postural analysis in a pediatric cohort of patients with Ehlers-Danlos Syndrome: a pilot study.
    Minerva Pediatr 2017 Feb 17. Epub 2017 Feb 17.
    Department of Paediatrics, University of Pavia, IRCCS Policlinico San Matteo Foundation, Pavia, Italy.
    Background: The Ehlers-Danlos Syndrome (EDS) is a rare disorder affecting the connective tissue. EDS patients may suffer of proprioception and balance impairment but all the studies dealing with such symptoms have been addressed to adult subjects. The Study of such impairment in younger patients may lead to a better awareness of own motor abilities and to a focused rehabilitative intervention. Read More

    Ehlers-Danlos syndrome, classical type.
    Am J Med Genet C Semin Med Genet 2017 Feb 13. Epub 2017 Feb 13.
    Classical EDS is a heritable disorder of connective tissue. Patients are affected with joint hypermobility, skin hyperextensibilty, and skin fragility leading to atrophic scarring and significant bruising. These clinical features suggest consideration of the diagnosis which then needs to be confirmed, preferably by genetic testing. Read More

    Oral and mandibular manifestations in the Ehlers-Danlos syndromes.
    Am J Med Genet C Semin Med Genet 2017 Feb 13. Epub 2017 Feb 13.
    The Ehlers-Danlos syndromes (EDS) are hereditary disorders that affect the connective tissue and collagen structures in the body. Several types of EDS have been identified. Oral and mandibular structures, which include oral soft tissue, dentition, facial and head pain, and the functioning of the temporomandibular joint (TMJ), are variably affected in the various types of EDS. Read More

    Orthopaedic management of the Ehlers-Danlos syndromes.
    Am J Med Genet C Semin Med Genet 2017 Feb 13. Epub 2017 Feb 13.
    The role of orthopedic surgery in Ehlers-Danlos syndrome is inherently controversial, opaque to most patients and many medical providers, and difficult to discern from available medical literature. Non-operative treatment is preferable, but for carefully selected patients, specific joint stabilization and nerve decompression procedures can provide symptomatic relief when conservative measures fail. © 2017 Wiley Periodicals, Inc. Read More

    Mechanisms underlying reflux symptoms and dysphagia in patients with joint hypermobility syndrome, with and without postural tachycardia syndrome.
    Neurogastroenterol Motil 2017 Feb 12. Epub 2017 Feb 12.
    Wingate Institute of Neurogastroenterology, Centre for Digestive Diseases, Blizard Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
    Background: The joint hypermobility syndrome (JHS) is a common non-inflammatory connective tissue disorder which frequently co-exists with postural tachycardia syndrome (PoTS), a form of orthostatic intolerance. Gastrointestinal symptoms and dysmotility have been reported in PoTS. Dysphagia and reflux are common symptoms in JHS, yet no studies have examined the physiological mechanism for these, subdivided by PoTS status. Read More

    Chronic fatigue in Ehlers-Danlos syndrome-hypermobile type.
    Am J Med Genet C Semin Med Genet 2017 Feb 10. Epub 2017 Feb 10.
    Chronic fatigue is an important contributor to impaired health-related quality of life in Ehlers-Danlos syndrome. There is overlap in the symptoms and findings of EDS and chronic fatigue syndrome. A proportion of those with CFS likely have EDS that has not been identified. Read More

    Pain management in the Ehlers-Danlos syndromes.
    Am J Med Genet C Semin Med Genet 2017 Feb 10. Epub 2017 Feb 10.
    Chronic pain in the Ehlers-Danlos syndromes (EDS) is common and may be severe. According to one study, nearly 90% of patients report some form of chronic pain. Pain, which is often one of the first symptoms to occur, may be widespread or localized to one region such as an arm or a leg. Read More

    Psychiatric and psychological aspects in the Ehlers-Danlos syndromes.
    Am J Med Genet C Semin Med Genet 2017 Feb 10. Epub 2017 Feb 10.
    There is increasing amount of evidence pointing toward a high prevalence of psychiatric conditions among individuals with hypermobile type of Ehlers-Danlos syndrome (JHS/hEDS). A literature review confirms a strong association between anxiety disorders and JHSh/hEDS, and there is also limited but growing evidence that JHSh/hEDS is also associated with depression, eating, and neuro-developmental disorders as well as alcohol and tobacco misuse. The underlying mechanisms behind this association include genetic risks, autonomic nervous system dysfunction, increased exteroceptive and interoceptive mechanisms and decreased proprioception. Read More

    Gastrointestinal involvement in the Ehlers-Danlos syndromes.
    Am J Med Genet C Semin Med Genet 2017 Feb 10. Epub 2017 Feb 10.
    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 such as functional dyspepsia and irritable bowel syndrome. Read More

    A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family.
    Vasc Endovascular Surg 2017 Jan 1:1538574417692114. Epub 2017 Jan 1.
    5 Regional Center of Ehlers-Danlos Syndrome, IRCCS Ca' Granda Foundation, Milan, Italy.
    Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe connective tissue disorder caused by mutations in the collagen type III alpha I chain ( COL3A1) gene. We describe a pathogenetic heterozygous COL3A1 mutation c.3140 G>A, p. Read More

    Cognitive impairment in women with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type.
    Rheumatol Int 2017 Feb 8. Epub 2017 Feb 8.
    Service de Médecine Physique et Réadaptation, APHP, Hôpitaux Universitaires Paris Centre, Université Paris-Est Créteil, Hôtel Dieu, Paris, France.

    Chronic pain in a patient with Ehlers-Danlos syndrome (hypermobility type): The role of myofascial trigger point injections.
    J Bodyw Mov Ther 2017 Jan 5;21(1):194-196. Epub 2016 Jul 5.
    Pain Clinic, Department of Anaesthesia, Sanjay Gandhi Post Graduate Institute, Raebareli Road, Lucknow, Uttar Pradesh 226014, India.
    Chronic widespread musculoskeletal pain is a cardinal symptom in hypermobility type of Ehler Danlos Syndrome (EDS type III). The management of pain in EDS, however, has not been studied in depth. A 30 year old female, known case of EDS, presented to the pain clinic with complaints of severe upper back pain for 6 months. Read More

    Cardiovascular autonomic dysfunction in Ehlers-Danlos syndrome-hypermobile type.
    Am J Med Genet C Semin Med Genet 2017 Feb 4. Epub 2017 Feb 4.
    Autonomic dysfunction contributes to health-related impairment of quality of life in the hypermobile type of Ehlers-Danlos syndrome (hEDS). Typical signs and symptoms include tachycardia, hypotension, gastrointestinal dysmotility, and disturbed bladder function and sweating regulation. Cardiovascular autonomic dysfunction may present as Orthostatic Intolerance, Orthostatic Hypotension, Postural Orthostatic Tachycardia Syndrome, or Neurally Mediated Hypotension. Read More

    Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history.
    Am J Med Genet C Semin Med Genet 2017 Feb 1. Epub 2017 Feb 1.
    The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. It has been described largely in those with musculoskeletal complaints including joint hypermobility, joint subluxations/dislocations, as well as skin and soft tissue manifestations. Many patients report activity-related pain and some go on to have daily pain. Read More

    A framework for the classification of joint hypermobility and related conditions.
    Am J Med Genet C Semin Med Genet 2017 Feb 1. Epub 2017 Feb 1.
    In the last decade, growing attention has been placed on joint hypermobility and related disorders. The new nosology for Ehlers-Danlos syndrome (EDS), the best-known and probably the most common of the disorders featuring joint hypermobility, identifies more than 20 different types of EDS, and highlights the need for a single set of criteria to substitute the previous ones for the overlapping EDS hypermobility type and joint hypermobility syndrome. Joint hypermobility is a feature commonly encountered in many other disorders, both genetic and acquired, and this finding is attracting the attention of an increasing number of medical and non-medical disciplines. Read More

    Understanding vascular-type Ehlers-Danlos syndrome and avoiding vascular complications.
    Proc (Bayl Univ Med Cent) 2017 Jan;30(1):52-53
    Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts.
    Vascular-type Ehlers-Danlos syndrome (EDS) is a rare inherited connective tissue disorder caused by a mutation in type III procollagen. It has the highest mortality rate among the six types of EDS. Patients with this syndrome often have typical medical histories and a characteristic physical examination. Read More

    Congenital Chylous Ascites and Ehlers-Danlos Syndrome Type VI.
    ACG Case Rep J 2016 Aug 21;3(4):e186. Epub 2016 Dec 21.
    Departments of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah; Department of Pediatric Gastroenterology, University of Utah School of Medicine, Salt Lake City, Utah.
    We report the first observation of a patient with contgenital chylous ascites (CCA) and Ehlers-Danlos syndrome type VI due to primary lymphatic defect with additional vascular anomaly. CCA is a rare condition, and there is limited understanding of its pathophysiology and treatment options. We also review the patient's treatment course mitigated with octreotide and total parenteral nutritional support, as there are no current established guidelines for CCA. Read More

    P3h3-null and Sc65-null Mice Phenocopy the Collagen Lysine Under-hydroxylation and Cross-linking Abnormality of Ehlers-Danlos Syndrome Type VIA.
    J Biol Chem 2017 Jan 23. Epub 2017 Jan 23.
    University of Washington, United States.
    Tandem mass spectrometry was applied to tissues from targeted mutant mouse models to explore the collagen substrate specificities of individual members of the prolyl 3-hydroxylase (P3H) gene family. Previous studies revealed that P3h1 preferentially 3-hydroxylates proline at a single site in collagen type I chains, whereas P3h2 is responsible for 3-hydroxylating multiple proline sites in collagen types I, II, IV and V. In screening for collagen substrate sites for the remaining members of the vertebrate P3H family, P3h3 and Sc65 knockout mice revealed a common lysine under-hydroxylation effect at helical-domain cross-linking sites in skin, bone, tendon, aorta and cornea. Read More

    Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.
    Am J Med Genet A 2017 Feb 7;173(2):524-530. Epub 2016 Nov 7.
    Department of Molecular and Translational Medicine, School of Medicine, Division of Biology and Genetics, University of Brescia, Brescia, Italy.
    Classical Ehlers-Danlos syndrome (cEDS) is a rare connective tissue disorder primarily characterized by hyperextensible skin, defective wound healing, abnormal scars, easy bruising, and generalized joint hypermobility; arterial dissections are rarely observed. Mutations in COL5A1 and COL5A2 encoding type V collagen account for more than 90% of the patients so far characterized. In addition, cEDS phenotype was reported in a small number of patients carrying the c. Read More

    Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family.
    Am J Med Genet A 2017 Feb 7;173(2):519-523. Epub 2016 Nov 7.
    Department of Cardiology, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands.
    Vascular Ehlers-Danlos Syndrome (vEDS) is caused by heterozygous mutations in COL3A1 and is characterized by fragile vasculature and hollow organs, with a high risk of catastrophic events at a young age. During pregnancy and delivery, maternal mortality rates up until 25% have been reported. However, recent pedigree analysis reported a substantial lower pregnancy-related mortality rate of 4. Read More

    Gastrointestinal disorders in joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type: a review for the gastroenterologist.
    Neurogastroenterol Motil 2017 Jan 13. Epub 2017 Jan 13.
    Wingate Institute of Neurogastroenterology, Centre for Digestive Diseases, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
    Background: Joint hypermobility syndrome (JHS)/Ehlers-Danlos syndrome hypermobility type (EDS-HT) is the most common hereditary non-inflammatory disorder of connective tissue, characterized by a wide range of symptoms, mainly joint hyperextensibility and musculoskeletal symptoms. A majority of patients also experiences gastrointestinal (GI) symptoms. Furthermore, JHS/EDS-HT has specifically been shown to be highly prevalent in patients with functional GI disorders, such as functional dyspepsia and irritable bowel syndrome. Read More

    Sudden death due to aortic pathology.
    Cardiol Young 2017 Jan;27(S1):S36-S42
    Division of Cardiology,Children's Mercy Hospital,Kansas City, Missouri,United States of America.
    Sudden death from aortic dissection of an ascending aortic aneurysm is an uncommon but important finding in all series of sudden death in young, apparently healthy athletes. Individuals at risk include those having any of a variety of conditions in which structural weakness of the ascending aorta predisposes to pathological dilation under prolonged periods of increased wall stress. These conditions include Marfan syndrome, Loeys-Dietz syndrome, bicuspid aortic valve, and the vascular form of Ehlers-Danlos syndrome. Read More

    Establishment and baseline characteristics of a nationwide Danish cohort of patients with Ehlers-Danlos syndrome.
    Rheumatology (Oxford) 2017 Jan 11. Epub 2017 Jan 11.
    Department of Surgery, Zealand University Hospital, Køge, Denmark.
    Objectives: The aim of this study was to investigate national prevalence, general demographic characteristics and survival of Danish patients with Ehlers-Danlos syndrome (EDS).

    Method: A population-based cohort study was conducted using a database consisting of the entire Danish population alive at any given time between 1 January 2000 and 31 December 2012, based upon longitudinal Danish national registers. All patients with EDS were identified, and the cohort was described by disease prevalence, basic demographic characteristics, mean age at death and mortality for the observational period of 13 years. Read More

    Obstructive sleep apnoea and quality of life in Ehlers-Danlos syndrome: a parallel cohort study.
    Thorax 2017 Jan 10. Epub 2017 Jan 10.
    Department of Pulmonology, University Hospital Zurich, Zurich, Switzerland.
    Background: Patients with the connective tissue disorder Ehlers-Danlos syndrome (EDS) often suffer from fatigue, excessive daytime sleepiness and impaired quality of life. Obstructive sleep apnoea (OSA) may be an underlying cause for these symptoms but its prevalence in this population is unclear.

    Methods: In this prospective parallel-cohort study, we included 100 adult patients with EDS (46% hypermobile-type, 35% classical-type and 19% other), which were one-to-one matched to 100 healthy adult controls according to sex, age, weight and height. Read More

    COL6A5 variants in familial neuropathic chronic itch.
    Brain 2017 Jan 9. Epub 2017 Jan 9.
    13 Neuroalgology Unit and Skin Biopsy, Peripheral Neuropathy and Neuropathic Pain Center, IRCCS Foundation "Carlo Besta" Neurological Institute, Milan, Italy
    Itch is thought to represent the peculiar response to stimuli conveyed by somatosensory pathways shared with pain through the activation of specific neurons and receptors. It can occur in association with dermatological, systemic and neurological diseases, or be the side effect of certain drugs. However, some patients suffer from chronic idiopathic itch that is frequently ascribed to psychological distress and for which no biomarker is available to date. Read More

    Ehlers-Danlos syndrome hypermobility type is associated with rheumatic diseases.
    Sci Rep 2017 Jan 4;7:39636. Epub 2017 Jan 4.
    Department of Medicine, Geisel School of Medicine at Dartmouth, Lebanon, 03756, NH, USA.
    We retrospectively analyzed electronic medical records of patients with Ehlers-Danlos Syndrome hypermobility type (HEDS), including demographic information, workup, rheumatological diagnoses in order to determine its association with rheumatological conditions. HEDS Patients were stratified according to level of workup received (no additional work (physical exam only) = NWU, limited workup = LWU, comprehensive workup = CWU)). HEDS patients were predominantly female (21:4, F:M). Read More

    Identification of a missense mutation of COL3A1 in a Chinese family with atypical Ehlers-Danlos syndrome using targeted next-generation sequencing.
    Mol Med Rep 2017 Feb 29;15(2):936-940. Epub 2016 Dec 29.
    Department of Vascular Surgery, Nanjing Drum Tower Hospital, Nanjing University Medical School, Nanjing, Jiangsu 210008, P.R. China.
    Aortopathy represents an important cause of mortality in industrialized countries, with a number of genes identified as predispose factors. It can be difficult to identify the genetic lesions underlying this disorder, particularly when the phenotype is atypical. The present study performed targeted next‑generation sequencing of 428 genes associated with cardiovascular diseases in a family with aortopathy, the proband of which presented with abdominal aortic aneurysm rupture only, with tissue fragility noted in surgery. Read More

    Molecular insights into prolyl and lysyl hydroxylation of fibrillar collagens in health and disease.
    Crit Rev Biochem Mol Biol 2017 Feb 23;52(1):74-95. Epub 2016 Dec 23.
    a MATRIX Research Group, Department of Pathology and Medical Biology , University Medical Center Groningen, University of Groningen , Groningen , the Netherlands.
    Collagen is a macromolecule that has versatile roles in physiology, ranging from structural support to mediating cell signaling. Formation of mature collagen fibrils out of procollagen α-chains requires a variety of enzymes and chaperones in a complex process spanning both intracellular and extracellular post-translational modifications. These processes include modifications of amino acids, folding of procollagen α-chains into a triple-helical configuration and subsequent stabilization, facilitation of transportation out of the cell, cleavage of propeptides, aggregation, cross-link formation, and finally the formation of mature fibrils. Read More

    Cardiovascular profile in postural orthostatic tachycardia syndrome and Ehlers-Danlos syndrome type III.
    Clin Auton Res 2016 Dec 22. Epub 2016 Dec 22.
    Department of Kinesiology, McMaster University, 1280 Main Street West, Hamilton, ON, L8S 4K1, Canada.
    The cardiovascular profile of postural orthostatic tachycardia syndrome + Ehlers-Danlos syndrome hypermobility type (POTS + EDSIII) has not been described, despite suggestions that it plays a role in orthostatic intolerance. We studied nine individuals diagnosed with POTS + EDSIII and found that the arterial stiffness and cardiac profiles of patients with POTS + EDSIII were comparable to those of age- and sex-matched controls, suggesting an alternate explanation for orthostatic intolerance. Read More

    Multiple perforation of small-intestine diverticula in a patient with Ehlers-Danlos syndrome.
    Rev Esp Enferm Dig 2017 Jan;109(1):83
    Anatomía Patológica, Hospital Universitario La Paz.
    Ehlers-Danlos syndrome represents a group of hereditary connective tissue disorders characterized by ligamentous hyperlaxity, fragile skin and joint hypermobility. Gastrointestinal complications in this syndrome are less well known. Read More

    Anesthetic Management of a Patient With Ehlers-Danlos Syndrome.
    Anesth Prog 2016 ;63(4):204-207
    Department of Anesthesiology, Tokushima University, Tokushima, Japan.
    We describe the case of a 37-year-old woman who had been diagnosed with Ehlers-Danlos syndrome (EDS) 4 years earlier and was scheduled to undergo removal of synovial chondromatosis in the temporomandibular joint. EDS is a heritable connective tissue disorder and has 6 types. In this case, the patient was classified into EDS hypermobility type. Read More

    Increased Need for Gastrointestinal Surgery and Increased Risk of Surgery-Related Complications in Patients with Ehlers-Danlos Syndrome: A Systematic Review.
    Dig Surg 2017 9;34(2):161-170. Epub 2016 Dec 9.
    Department of Surgery, Center for Perioperative Optimization (CPO), Gastro Unit, Herlev Hospital, Herlev, Denmark.
    Background/aims: Ehlers-Danlos syndromes (EDSs) constitute a rare group of inherited connective tissue diseases, characterized by multisystemic manifestations and general tissue fragility. Most severe complications include vascular and gastrointestinal (GI) emergencies requiring acute surgery. The purpose of this systematic review was to assess the causes of GI-related surgery and related mortality and morbidity in patients with EDSs. Read More

    The influence of Ehlers-Danlos syndrome - hypermobility type, on motherhood: A phenomenological, hermeneutical study.
    Res Dev Disabil 2017 Jan 5;60:135-144. Epub 2016 Dec 5.
    Faculty of Medicine and Health Sciences, Department of Rehabilitation Sciences and Physiotherapy, Occupational Therapy Program. Ghent University, De Pintelaan 185, 9000 Ghent Belgium.
    Background: The consequences of the Ehlers-Danlos Syndrome hypermobility type (EDS-HT) affect many aspects of daily life. "Living with limitations" is a central theme in the life of patients affected by this heritable disorder of connective tissue. The aim of the present study was to explore the lived experiences of women with EDS-HT concerning diagnosis, influence on daily life and becoming and being a mother. Read More

    Musculoskeletal Conditions in a Pediatric Population with Ehlers-Danlos Syndrome.
    J Pediatr 2017 Feb 28;181:261-266. Epub 2016 Nov 28.
    Division of Sports Medicine, Department of Orthopedics; Harvard Medical School, Boston, MA. Electronic address:
    Objective: To describe musculoskeletal conditions in children with Ehlers-Danlos syndrome (EDS).

    Study Design: A retrospective medical record review was performed, which evaluated 205 patients with EDS (ages 6-19 years) seen in sports medicine or orthopedic clinic at a large pediatric hospital over a 5-year period.

    Results: Female (n = 147) and male (n = 57) patients were identified (mean age 12. Read More

    The symptom matrix: Using a formalism-based approach to address complex syndromes systematically.
    Musculoskeletal Care 2016 Dec 1. Epub 2016 Dec 1.
    School of Computing and Mathematics, Keele University, Keele, UK.
    Complex rheumatological syndromes such as Systemic lupus erythematosus, Sjogren's Syndrome and many connective tissue disorders can be a challenge to classify and diagnose, due to their wide-ranging signs and symptoms, not all of which will necessarily be present in all patients. This can result in difficulties for the clinician, patient and researcher if signs and symptoms are either overlooked or are incorrectly included in the nosology or classification of diseases. This article presents a formalism-based approach to describing syndromes. Read More

    Ehlers-Danlos syndrome related to FKBP14 mutations: detailed cutaneous phenotype.
    Clin Exp Dermatol 2017 Jan 30;42(1):64-67. Epub 2016 Nov 30.
    Dermatology Department, University Hospital of Strasbourg, Strasbourg, France.
    In 2012, a new Ehlers-Danlos (ED) variant, characterized by severe progressive kyphoscoliosis, neonatal myopathy and hearing loss, with normal urinary lysylpyridinoline to hydroxylysylpyridinoline ratio and most often a recurrent homozygous mutation in the FKBP14 gene, was reported. Because one of the major affected tissues in ED syndrome is the skin, recognition of the cutaneous features of this newly recognized EDS variant is important. We describe the cutaneous phenotype of an adolescent girl harbouring the recurrent homozygous FKBP14 mutation. Read More

    Abnormal wound healing related to high-dose systemic corticosteroid therapy in a patient with Ehlers-Danlos syndrome benign hypermobility Type.
    Cutis 2016 Oct;98(4):E20-E23
    Ohio State University, Columbus, USA.
    The adverse impact of chronic corticosteroid therapy on wound healing has been well characterized, as has abnormal wound healing known to occur in the classic type of Ehlers-Danlos syndrome (EDS). In contrast, abnormal wound healing is absent in cases of EDS benign hypermobility type (EDS-BHT). We present the case of a patient with EDS-BHT with no history of abnormal wound healing who developed large nonhealing ulcers to sites of minor trauma after initiating therapy with high-dose systemic corticosteroids for dermatomyositis. Read More

    Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review.
    Cytogenet Genome Res 2016 17;150(1):40-45. Epub 2016 Nov 17.
    Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy.
    Koolen-de Vries syndrome (KdS) is a rare genetic condition characterized by typical facial dysmorphisms, cardiac and renal defects, skeletal anomalies, developmental delay, and intellectual disability of variable level. It is caused by a 440-680-kb deletion in the 17q21.31 region, encompassing CRHR1, MAPT, IMP5, STH, and KANSL1, or by an intragenic KANSL1 mutation. Read More

    Prosthetic Valve Endocarditis Caused by Bartonella henselae: A Case Report of Molecular Diagnostics Informing Nonsurgical Management.
    Open Forum Infect Dis 2016 Oct 9;3(4):ofw202. Epub 2016 Nov 9.
    Division of Infectious Diseases and HIV Medicine, Department of Medicine, and; Geriatric Research Education and Clinical Center, Louis Stokes Cleveland Department of Veterans Affairs Medical Center, Cleveland, Ohio.
    Identifying the pathogen responsible for culture-negative valve endocarditis often depends on molecular studies performed on surgical specimens. A patient with Ehlers-Danlos syndrome who had an aortic graft, a mechanical aortic valve, and a mitral anulloplasty ring presented with culture-negative prosthetic valve endocarditis and aortic graft infection. Research-based polymerase chain reaction (PCR)/electrospray ionization mass spectrometry on peripheral blood samples identified Bartonella henselae. Read More

    Collagenopathies-Implications for Abdominal Wall Reconstruction: A Systematic Review.
    Plast Reconstr Surg Glob Open 2016 Oct 24;4(10):e1036. Epub 2016 Oct 24.
    Department of Plastic Surgery, University of Texas Southwestern, Dallas, Tex; and Department of Plastic Surgery, Ohio State University Medical Center, Columbus, Ohio.
    Background: The etiology of hernia formation is strongly debated and includes mechanical strain, prior surgical intervention, abnormal embryologic development, and increased intraabdominal pressure. Although the most common inciting cause in ventral hernias is previous abdominal surgery, many other factors contribute. We explore this etiology through an examination of the current literature and existing evidence on patients with collagen vascular diseases, such as Ehlers-Danlos syndrome. Read More

    Ehlers-Danlos Syndrome-Hypermobility Type: A Much Neglected Multisystemic Disorder.
    Rambam Maimonides Med J 2016 Oct 31;7(4). Epub 2016 Oct 31.
    Hypermobility Unit, London and Centre for Rheumatology, Division of Medicine, University College London, London, UK.
    Ehlers-Danlos syndrome (EDS)-hypermobility type (HT) is considered to be the most common subtype of EDS and the least severe one; EDS-HT is considered to be identical to the joint hypermobility syndrome and manifests with musculoskeletal complaints, joint instability, and soft tissue overuse injury. Musculoskeletal complaints manifest with joint pain of non-inflammatory origin and/or spinal pain. Joint instability leads to dislocation or subluxation and involves peripheral joints as well as central joints, including the temporomandibular joints, sacroiliac joints, and hip joints. Read More

    Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients.
    Clin Genet 2016 Sep 1. Epub 2016 Sep 1.
    Department of Neurology, Radboud University Medical Centre, Nijmegen, the Netherlands.
    The tenascin-X (TNX) deficient type Ehlers-Danlos syndrome (EDS) is similar to the classical type of EDS. Because of the limited awareness among geneticists and the challenge of the molecular analysis of the TNXB gene, the TNX-deficient type EDS is probably to be under diagnosed. We therefore performed an observational, cross-sectional study. Read More

    A connective tissue disorder may underlie ESSENCE problems in childhood.
    Res Dev Disabil 2017 Jan 29;60:232-242. Epub 2016 Oct 29.
    Medical School, University of Chile, Santiago, Chile; Rheumatology Unit, San Juan de Dios Hospital, Santiago, Chile.
    Background: Ehlers-Danlos syndrome hypermobility type, also known as Joint Hypermobility Syndrome (EDS-HT/JHS), is the most common hereditary disorder of the connective tissue (HDCT). It is characterized by tissue fragility, joint hypermobility and a wide range of articular and non-articular manifestations, which often appear in infancy. The clinical picture of EDS-HT/JHS is poorly known by the medical community, as is the presence of "ESSENCE" (Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations) problems in affected children. Read More

    Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers-Danlos syndrome with severe intestinal involvement: a case report.
    J Med Case Rep 2016 Oct 31;10(1):303. Epub 2016 Oct 31.
    Regional Center of Ehlers-Danlos Syndrome, IRCCS Ca' Granda Foundation, via San Barnaba 8, Milan, Italy.
    Background: The vascular type of Ehlers-Danlos syndrome is an autosomal dominant connective tissue disorder caused by a mutation in the COL3A1 gene encoding pro-alpha1 chain of type III collagen. The vascular type of Ehlers-Danlos syndrome causes severe fragility of connective tissues with arterial and intestinal ruptures and complications in surgical and radiological treatments.

    Case Presentation: We present a case of a 38-year-old Italian woman who was diagnosed as having the vascular type of Ehlers-Danlos syndrome. Read More

    Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.
    Genet Med 2016 Nov 24;18(11):1119-1127. Epub 2016 Mar 24.
    Department of Medicine, Institute of Clinical Sciences, Imperial College London, London, UK.
    Purpose: Ehlers-Danlos syndrome (EDS) comprises a group of overlapping hereditary disorders of connective tissue with significant morbidity and mortality, including major vascular complications. We sought to identify the diagnostic utility of a next-generation sequencing (NGS) panel in a mixed EDS cohort.

    Methods: We developed and applied PCR-based NGS assays for targeted, unbiased sequencing of 12 collagen and aortopathy genes to a cohort of 177 unrelated EDS patients. Read More

    Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7.
    BMC Genomics 2016 Oct 28;17(1):839. Epub 2016 Oct 28.
    Animal Breeding and Genomics Centre, Wageningen University, PO Box 338, NL-6700 AH, Wageningen, The Netherlands.
    Background: Inbreeding and population bottlenecks in the ancestry of Friesian horses has led to health issues such as dwarfism. The limbs of dwarfs are short and the ribs are protruding inwards at the costochondral junction, while the head and back appear normal. A striking feature of the condition is the flexor tendon laxity that leads to hyperextension of the fetlock joints. Read More

    Dermatosparaxis in two Limousin calves.
    Ir Vet J 2016 18;69:15. Epub 2016 Oct 18.
    School of Veterinary Medicine, Veterinary Sciences Centre, University College Dublin, Belfield, Dublin 4, Ireland.
    Background: An unusual presentation of skin disease was identified in two related neonatal Pedigree Limousin calves presented to University Veterinary Hospital, University College Dublin, following detailed post mortem examination a diagnosis of dermatosparaxis was made. Dermatosparaxis in animals or Ehlers Danlos Syndrome, which is the analogous condition seen in humans, is a connective tissue disorder characterised by extreme skin fragility. To the authors' knowledge this is the first report of such a diagnosis in the Limousin breed and the features of this lethal phenotype were severe in comparison to previous reports of the condition. Read More

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