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    1 OF 72

    Sudden onset of artery dissection in a 32-year-old woman with vascular Ehlers-Danlos syndrome due to psychological stress of her mother's death: a case series.
    JA Clin Rep 2017 8;3(1):26. Epub 2017 May 8.
    1Department of Anesthesiology, Osaka Medical College, 2-7 Daigaku-machi, Takatsuki, Osaka 569-8686 Japan.
    Background: Patients with vascular Ehlers-Danlos syndrome (EDS) are susceptible to significant vascular complications, such as aortic and visceral arterial ruptures, aneurysms, and dissection. We describe a case of repeated bleeding in a 57-year-old woman and a case of sudden onset of artery dissection in her daughter, both of whom were previously diagnosed with vascular EDS and managed at our institution.

    Case Presentation: A 57-year-old woman was admitted to our emergency department due to sudden onset of left low back pain. Read More

    Congenital cervical kyphosis in an infant with Ehlers-Danlos syndrome.
    Childs Nerv Syst 2018 Feb 15. Epub 2018 Feb 15.
    Department of Orthopedic Surgery, Maimonides Medical Center, 4802 Tenth Avenue, Brooklyn, NY, 11219, USA.
    Background: Ehler-Danlos syndome (EDS) refers to a group of heritable connective tissue disorders; rare manifestations of which are cervical kyphosis and clinical myelopathy. Surgical treatment is described for the deformity in the thoracolumbar spine in adolescents but not for infantile cervical spine. Internal fixation for deformity correction in the infantile cervical spine is challenging due to the diminutive size of the bony anatomy and the lack of spinal instrumentation specifically designed for young children. Read More

    Attention-deficit/hyperactivity disorder, joint hypermobility-related disorders and pain: expanding body-mind connections to the developmental age.
    Atten Defic Hyperact Disord 2018 Feb 14. Epub 2018 Feb 14.
    Division of Medical Genetics, IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
    Attention-deficit/hyperactivity disorder (ADHD) and generalized joint hypermobility (JH) are two separated conditions, assessed, and managed by different specialists without overlapping interests. Recently, some researchers highlighted an unexpected association between these two clinical entities. This happens in a scenario of increasing awareness on the protean detrimental effects that congenital anomalies of the connective tissue may have on human health and development. Read More

    ZIP13: A Study ofOffers an Alternative Explanation for the Corresponding Human Disease.
    Front Genet 2017 31;8:234. Epub 2018 Jan 31.
    State Key Laboratory of Membrane Biology, School of Life Sciences, Tsinghua University, Beijing, China.
    The fruit flyhas become an important model organism to investigate metal homeostasis and human diseases. Previously we identified dZIP13 (CG7816), a member of the ZIP transporter family (SLC39A) and presumably a zinc importer, is in fact physiologically primarily responsible to move iron from the cytosol into the secretory compartments in the fly. This review will discuss the implication of this finding for the etiology of Spondylocheirodysplasia-Ehlers-Danlos Syndrome (SCD-EDS), a human disease defective in ZIP13. Read More

    Retin Cases Brief Rep 2018 Feb 13. Epub 2018 Feb 13.
    Department of Ophthalmology, New York Eye and Ear Infirmary, Mount Sinai School of Medicine, New York, New York.
    Purpose: To report multimodal imaging in a novel case of angioid streaks in a patient with Turner syndrome with 10-year follow-up.

    Methods: Case report of a patient with Turner syndrome and angioid streaks followed at Bellevue Hospital Eye Clinic from 2007 to 2017. Fundus photography, fluorescein angiography, and optical coherence tomography angiography were obtained. Read More

    A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the ER quality control in the mechanism of some β3GalT6-pathy mutations.
    Clin Genet 2018 Feb 14. Epub 2018 Feb 14.
    Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, UAE.
    Al-Gazali syndrome encompasses several clinical features including prenatal growth retardation, large joints contractures with camptodactyly, bilateral talipes equinovarus, small mouth, anterior segment anomalies of the eyes, and early lethality. Recently, a baby with features very similar to Al-Gazali syndrome was found to have compound heterozygous variants in B3GALT6. This gene encodes Beta-1,3-galactosyltransferase 6 (β3GalT6), an essential component of the glycosaminoglycan synthesis pathway. Read More

    Multicentre study on capsular closure versus non-capsular closure during hip arthroscopy in Danish patients with femoroacetabular impingement (FAI): protocol for a randomised controlled trial.
    BMJ Open 2018 02 10;8(2):e019176. Epub 2018 Feb 10.
    Division of Sports Traumatology, Department of Orthopedics, Aarhus University Hospital THG, Aarhus, Denmark.
    Introduction: Hip arthroscopy has become a standard procedure in the treatment of hip joint pain not related to osteoarthritis or dysplasia in the young and active patient. There has been increasing focus on the contribution of the hip capsule to function and on stability following hip arthroscopy. It has been suggested that capsular closure after hip arthroscopy may prevent microinstability and macroinstability of the hip joint and reduce revision rate. Read More

    Zinc and Skin Disorders.
    Nutrients 2018 Feb 11;10(2). Epub 2018 Feb 11.
    Department of Dermatology, Faculty of Medicine, University of Yamanashi, Yamanashi 409-3898, Japan.
    The skin is the third most zinc (Zn)-abundant tissue in the body. The skin consists of the epidermis, dermis, and subcutaneous tissue, and each fraction is composed of various types of cells. Firstly, we review the physiological functions of Zn and Zn transporters in these cells. Read More

    A Retrospective 2D Morphometric Analysis of Adult Female Chiari Type I Patients with Commonly Reported and Related Conditions.
    Front Neuroanat 2018 19;12. Epub 2018 Jan 19.
    Department of Biomedical Engineering, Conquer Chiari Research Center, University of Akron, Akron, OH, United States.
    Researchers have sought to better understand Chiari type I malformation (CMI) through morphometric measurements beyond tonsillar position (TP). Soft tissue and bone structures within the brain and craniocervical junction have been shown to be different for CMI patients compared to healthy controls. Yet, several morphological characteristics have not been consistently associated with CMI. Read More

    Complications and recurrence rates of patients with Ehlers-Danlos syndrome undergoing ventral hernioplasty: a case series.
    Hernia 2018 Jan 31. Epub 2018 Jan 31.
    Department of General and HPB Surgery and Liver Transplantation, Ghent University Hospital, Ghent, Belgium.
    Purpose: Ventral hernia repair is one of the most frequently performed surgical procedures, though recurrences are common. Recurrence can be caused by impaired collagen formation or maturation; hence, patients with Ehlers-Danlos syndrome (EDS) are potentially at increased risk for hernia recurrence. EDS causes altered collagen metabolism, though little is known about the influence of EDS on ventral hernioplasty outcomes. Read More

    Vascular Ehlers-Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci: A case report.
    Medicine (Baltimore) 2017 Nov;96(47):e8853
    Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, Kyung Hee University School of Medicine.
    Rationale: Vascular Ehlers-Danlos syndrome (vEDS) is a rare autosomal dominant inherited collagen disorder caused by defects or deficiency of pro-alpha 1 chain of type III procollagen encoded by COL3A1. vEDS is characterized not only by soft tissue manifestations including hyperextensibility of skin and joint hypermobility but also by early mortality due to rupture of arteries or vital organs. Although pulmonary complications are not common, vEDS cases complicated by pneumothorax, hemothorax, or intrapulmonary hematoma have been reported. Read More

    Multiple arterial thromboses due to cystic medial degeneration Erdheim-Gsell: A case report.
    Medicine (Baltimore) 2017 Nov;96(47):e8782
    Division of Angiology, Department of Internal Medicine.
    Rationale: Cystic medial degeneration Erdheim-Gsell is a vascular pathology mainly of the large vessels, which is mostly associated with Marfan syndrome or Ehlers-Danlos syndrome. The clinical findings of this entity are aneurysms of the aorta or large peripheral arteries which usually present in an acute setting due to rupture of an aneurysm.

    Patient Concerns: We present a case of a 43-year-old Caucasian male with histologically proven cystic medial degeneration of the lower limb vessels mimicking peripheral artery occlusive disease. Read More

    Gene expression of the two developmentally regulated dermatan sulfate epimerases in the Xenopus embryo.
    PLoS One 2018 25;13(1):e0191751. Epub 2018 Jan 25.
    Department of Laboratory Medicine, Lund Stem Cell Center, Lund University, Lund, Sweden.
    Chondroitin sulfate (CS)/dermatan sulfate (DS) proteoglycans are abundant on the cell surface and in the extracellular matrix and have important functions in matrix structure, cell-matrix interaction and signaling. The DS epimerases 1 and 2, encoded by Dse and Dsel, respectively, convert CS to a CS/DS hybrid chain, which is structurally and conformationally richer than CS, favouring interaction with matrix proteins and growth factors. We recently showed that Xenopus Dse is essential for the migration of neural crest cells by allowing cell surface CS/DS proteoglycans to adhere to fibronectin. Read More

    Demographics of a large paediatric Postural Orthostatic Tachycardia Syndrome Program.
    Cardiol Young 2018 Jan 23:1-7. Epub 2018 Jan 23.
    2Division of Cardiology,The Children's Hospital of Philadelphia,Philadelphia, Pennsylvania,USA.
    Objective: The aim of this study was to identify and evaluate demographic and clinical features of paediatric patients with postural orthostatic tachycardia syndrome in a tertiary hospital speciality clinic.

    Method: This is a retrospective review of clinical data obtained during initial outpatient evaluation.

    Results: A total of 708 patients met the evaluation criteria. Read More

    Cognitive, emotional, and behavioral considerations for chronic pain management in the Ehlers-Danlos syndrome hypermobility-type: a narrative review.
    Disabil Rehabil 2018 Jan 22:1-9. Epub 2018 Jan 22.
    d Department of Internal Medicine and Clinical Immunology , Medicine School, University of Lorraine, CHRU Nancy , Nancy , France.
    Background: Ehlers-Danlos syndrome (EDS) hypermobility-type is the most common hereditary disorder of the connective tissue. The tissue fragility characteristic of this condition leads to multi-systemic symptoms in which pain, often severe, chronic, and disabling, is the most experienced. Clinical observations suggest that the complex patient with EDS hypermobility-type is refractory toward several biomedical and physical approaches. Read More

    Disorders of metal metabolism.
    Transl Sci Rare Dis 2017 Dec 18;2(3-4):101-139. Epub 2017 Dec 18.
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
    Trace elements are chemical elements needed in minute amounts for normal physiology. Some of the physiologically relevant trace elements include iodine, copper, iron, manganese, zinc, selenium, cobalt and molybdenum. Of these, some are metals, and in particular, transition metals. Read More

    Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome.
    PLoS One 2018 18;13(1):e0191220. Epub 2018 Jan 18.
    Department of Molecular and Translational Medicine, Division of Biology and Genetics, University of Brescia, Brescia, Italy.
    Vascular Ehlers-Danlos syndrome (vEDS) is a dominantly inherited connective tissue disorder caused by mutations in the COL3A1 gene that encodes type III collagen (COLLIII), which is the major expressed collagen in blood vessels and hollow organs. The majority of disease-causing variants in COL3A1 are glycine substitutions and in-frame splice mutations in the triple helix domain that through a dominant negative effect are associated with the severe clinical spectrum potentially lethal of vEDS, characterized by fragility of soft connective tissues with arterial and organ ruptures. To shed lights into molecular mechanisms underlying vEDS, we performed gene expression profiling in cultured skin fibroblasts from three patients with different structural COL3A1 mutations. Read More

    A critical analysis of the perioperative management of patients with Ehlers Danlos type IV (vascular) syndrome.
    J Perioper Pract 2017 Sep;27(9):196-198
    Conquest Hospital, St Leonards-on-Sea, UK.
    This article discusses the perioperative care needs of patients with Ehlers Danlos type IV (vascular) syndrome. Ehlers Danlos syndrome (EDS) is a heritable group of connective tissue disorders characterised by varying degrees of tissue, blood vessel and internal organ fragility as well as skin and joint hypermobility (De Paepe and Malfait 2012). Read More

    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 5;1864(4 Pt A):1010-1023. Epub 2018 Jan 5.
    Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy. Electronic address:
    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 symptoms shared with chronic inflammatory systemic diseases. The stricter criteria defined in the 2017 EDS nosology leave without an identity many individuals with symptomatic joint hypermobility and/or features of hEDS; for these patients, the term Hypermobility Spectrum Disorders (HSD) was introduced. Read More

    A multimodal physical therapy approach utilizing the Maitland concept in the management of a patient with cervical and lumbar radiculitis and Ehlers-Danlos syndrome-hypermobility type: A case report.
    Physiother Theory Pract 2018 Jan 8:1-10. Epub 2018 Jan 8.
    a Summit Medical Group , Florham Park , NJ , USA.
    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. Read More

    Wound healing-related properties detected in an experimental model with a collagen gel contraction assay are affected in the absence of tenascin-X.
    Exp Cell Res 2018 Feb 29;363(1):102-113. Epub 2017 Dec 29.
    Department of Biosignaling and Radioisotope Experiment, Interdisciplinary Center for Science Research, Organization for Research and Academic Information, Shimane University, Enya-cho, Izumo 693-8501, Japan. Electronic address:
    Patients with tenascin-X (TNX)-deficient type Ehlers-Danlos syndrome (EDS) do not exhibit delayed wound healing, unlike classic type EDS patients, who exhibit mutations in collagen genes. Similarly, in TNX-knockout (KO) mice, wound closure of the skin is normal even though these mice exhibit a reduced breaking strength. Therefore, we speculated that the wound healing process may be affected in the absence of TNX. Read More

    Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.
    Ann Cardiothorac Surg 2017 Nov;6(6):582-594
    Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
    Many different heritable connective tissue disorders (HCTD) have been described over the past decades. These syndromes often affect the connective tissue of various organ systems, including heart, blood vessels, skin, joints, bone, eyes, and lungs. The discovery of these HCTD was followed by the identification of mutations in a wide range of genes encoding structural proteins, modifying enzymes, or components of the TGFβ-signaling pathway. Read More

    Ehlers-Danlos Syndrome Type IVB and Tracheobronchomegaly.
    J Bronchology Interv Pulmonol 2018 Jan;25(1):70-72
    Radiology, Kartal Dr. Lutfi Kirdar Educational and Research Hospital, Istanbul, Turkey.
    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. Read More

    Ehlers-Danlos syndrome in a young woman with anorexia nervosa and complex somatic symptoms.
    Int J Eat Disord 2017 Dec 16. Epub 2017 Dec 16.
    Stockholm Centre for Eating Disorders, Stockholm, Sweden.
    The Ehler-Danlos syndromes (EDS) are a group of clinically heterogeneous connective tissue disorders characterized by joint hypermobility, hyperextensibility of the skin, and a general connective tissue fragility that can induce symptoms from multiple organ systems. We present a case of comorbid anorexia nervosa and EDS in a 23-year old woman with a multitude of somatic symptoms that were initially attributed to the eating disorder but that were likely caused by the underlying EDS. Various EDS symptoms, such as gastrointestinal complaints, smell and taste abnormalities, and altered somatosensory awareness may resemble or mask an underlying eating disorder, and vice versa. Read More

    Single-Ventricle Palliation in a 4-Year-Old With Ehlers-Danlos Syndrome.
    Ann Thorac Surg 2018 Jan;105(1):e31-e32
    Pediatric Cardiothoracic Surgery, Primary Children's Medical Center, Salt Lake City, Utah.
    We report the case of a 4-year-old boy with Ehlers-Danlos syndrome undergoing single-ventricle palliation for an unbalanced atrioventricular canal defect. No reports of single-ventricle palliation in the setting of connective tissue disorders exist in the current literature. Unique findings on the patient's preoperative imaging included a disproportionately large neoaortic root and a regurgitant atrioventricular valve, which may foretell the need for future intervention. Read More

    Vascular Ehlers-Danlos Syndrome With a Novel Missense COL3A1 Mutation Present With Pulmonary Complications and Iliac Arterial Dissection.
    Vasc Endovascular Surg 2018 Feb 7;52(2):138-142. Epub 2017 Dec 7.
    1 Department of Vascular Surgery, Peking Union Medical College Hospital, Beijing, China.
    Vascular Ehlers-Danlos syndrome (vEDS) is a life-threatening connective tissue disorder due to its high tendency of arterial and organ rupture. Pulmonary complications in vEDS are rare. We present a young male patient with vEDS who developed severe pulmonary complications and severe rupture of the iliac artery at different stages of his life. Read More

    Vascular abnormalities in the placenta of Chst14-/- fetuses: implications in the pathophysiology of perinatal lethality of the murine model and vascular lesions in human CHST14/D4ST1 deficiency.
    Glycobiology 2018 Feb;28(2):80-89
    Center for Medical Genetics.
    Collagen is one of the most important components of the extracellular matrix that is involved in the strength of tissues, cell adhesion and cell proliferation. Mutations in several collagen and post-translational modification enzyme genes cause Ehlers-Danlos syndrome (EDS) characterized by joint and skin hyperextensibility as well as fragility of various organs. Carbohydrate sulfotransferase 14/dermatan 4-O-sulfotransferase-1 (CHST14/D4ST1) is a critical enzyme for biosynthesis of dermatan sulfate, a side chain of various proteoglycans including biglycan that regulates collagen fibrils through their interaction. Read More

    Cicatricial organising pneumonia mimicking a fibrosing interstitial pneumonia.
    Histopathology 2017 Nov 29. Epub 2017 Nov 29.
    Department of Radiology, Vancouver General Hospital and University of British Columbia, Vancouver, BC, Canada.
    Aims: Organising pneumonia (OP) is composed of loose granulation tissue plugs in distal airspaces; these disappear with steroid treatment. Recently a variant labelled 'cicatricial' OP has been described in which the granulation tissue organised to much denser fibrous tissue but still retained the usual pattern of OP. Here we report 10 patients thought to have an interstitial lung disease, and who on biopsy had a variant of cicatricial OP characterised by linear bands or small nodular masses of dense fibrous tissue that does not resemble ordinary OP. Read More

    Exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type.
    Disabil Rehabil 2017 Nov 10:1-11. Epub 2017 Nov 10.
    c School of Health and Social Work , University of Hertfordshire , Hatfield , UK.
    Purpose: To explore exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type and to explore patient experiences of physiotherapy.

    Methods: A cross sectional questionnaire survey design was used to collect quantitative and qualitative data from adult members of the Hypermobility Syndromes Association and Ehlers-Danlos Syndrome Support UK. Descriptive and inferential statistics were used to analyse the data. Read More

    [Indirect causes of maternal deaths (except stroke, cardiovascular diseases and infections): Results from the French confidential enquiry into maternal deaths, 2010-2012].
    Gynecol Obstet Fertil Senol 2017 Dec 4;45(12S):S71-S80. Epub 2017 Nov 4.
    Maternité les vallées, département de gynécologie obstétrique, hôpital privé d'Antony, 1, rue Velpeau, 92160 Antony, France.
    Maternal deaths of indirect causes result of a preexisting disease or an affection appeared during the pregnancy without any relationship with obstetrical causes, but worsened by the physiological effects of pregnancy. Among the 23 deaths of indirect cause related to a preexisiting pathology, 22 (96 %) have been analyzed by the expert comity. A known or preexisting chronic disease was documented in 16 patients (sick-cell disorder, n=3, treated epilepsy, n=3, intracerebral carvenomas, n=1, multifocal glial tumor, n=1, breast cancer, n=1, systemic lupus, n=1, diabetes mellitus, n=3, antiphospholipid syndrome, n=1). Read More

    Carotid-cavernous fistula: current concepts in aetiology, investigation, and management.
    Eye (Lond) 2018 Feb 3;32(2):164-172. Epub 2017 Nov 3.
    Division of Neuro-Ophthalmology, Wilmer Eye Institute, Johns Hopkins School of Medicine, Baltimore, MD, USA.
    A carotid-cavernous fistula (CCF) is an abnormal communication between arteries and veins within the cavernous sinus and may be classified as either direct or dural. Direct CCFs are characterized by a direct connection between the internal carotid artery (ICA) and the cavernous sinus, whereas dural CCFs result from an indirect connection involving cavernous arterial branches and the cavernous sinus. Direct CCFs frequently are traumatic in origin and also may be caused by rupture of an ICA aneurysm within the cavernous sinus, Ehlers-Danlos syndrome type IV, or iatrogenic intervention. Read More

    Hemothorax in vascular Ehlers-Danlos syndrome.
    Reumatol Clin 2017 Oct 16. Epub 2017 Oct 16.
    Servicio de Reumatología, Complejo Hospitalario Universitario Insular-Materno Infantil, Las Palmas de Gran Canaria, Las Palmas, España.
    Vascular Ehlers-Danlos syndrome (EDS IV) is a rare genetic disorder characterized by an alteration in the COL3A1 gene which encodes type III collagen. It is the most common type of collagen in vessels of medium size and certain organs such as the intestines and the uterus. The alteration of this type of collagen produces aneurisms and ruptures of vessels and organs. Read More

    Subjective health complaints and illness perception amongst adults with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-HypermobilityType - a cross-sectional study.
    Disabil Rehabil 2017 Oct 17:1-8. Epub 2017 Oct 17.
    a Department of Occupational Therapy, Physiotherapy and Radiography, Faculty of Health and Social Sciences , Western Norway University of Applied Sciences , Bergen , Norway.
    Objective: To investigate the prevalence and severity of subjective health complaints and describe illness perception in a population of Joint Hypermobility Syndrome or Ehlers-Danlos Syndrome-Hypermobile Type.

    Method: This study was a postal survey with a questionnaire battery on demographic data, subjective health complaints inventory, and illness perception. A total of 110 individuals diagnosed with Joint Hypermobility Syndrome or Ehlers-Danlos Syndrome-Hypermobile Type from two specialized hospitals in Norway were offered participation. Read More

    A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing.
    Eur J Med Genet 2018 Jan 9;61(1):17-20. Epub 2017 Oct 9.
    Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy.
    The 2017 EDS revised nosology indicates that minimal criteria suggestive for classical Ehlers-Danlos syndrome (cEDS) are skin hyperextensibility plus atrophic scarring together with either generalized joint hypermobility (gJHM) and/or at least three minor criteria that include cutaneous features and gJHM complications. Confirmatory molecular testing is obligatory to reach a final diagnosis. Although the large majority of the patients presents with these clinical features, some do not and might remain undiagnosed or misdiagnosed. Read More

    Postural tachycardia in hypermobile Ehlers-Danlos syndrome: A distinct subtype?
    Auton Neurosci 2017 Dec 2;208:146-149. Epub 2017 Oct 2.
    Department of Neurology, Stanford University Medical Center, 213 Quarry Road, M/C 5992, Palo Alto, CA 94304, United States.
    Introduction: It is not clear if patients with postural tachycardia syndrome (POTS) and Ehlers-Danlos syndrome (hEDS) differ from patients with POTS due to other etiologies. We compared the results of autonomic testing and healthcare utilization in POTS patients with and without hEDS.

    Methods: Patients with POTS+hEDS (n=20) and POTS controls without hypermobility (n=20) were included in the study. Read More

    Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.
    Genet Med 2017 Oct 5. Epub 2017 Oct 5.
    Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.
    PurposeWithin the spectrum of the Ehlers-Danlos syndromes (EDS), vascular complications are usually associated with the vascular subtype of EDS. Vascular complications are also observed in other EDS subtypes, but the reports are anecdotal and the information is dispersed. To better document the nature of vascular complications among "nonvascular" EDS subtypes, we performed a systematic review. Read More

    Hypermobility, the Ehlers-Danlos syndromes and chronic pain.
    Clin Exp Rheumatol 2017 Sep-Oct;35 Suppl 107(5):116-122. Epub 2017 Sep 28.
    Centre for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.
    Chronic widespread pain is a common complaint among individuals affected by generalised joint hypermobility. In the absence of other conditions that cause chronic pain, these individuals are usually diagnosed with joint hypermobility syndrome (JHS). JHS is a multifactorial trait with a strong genetic basis, but no specific genetic markers. Read More

    Fulminant myocardial bleeding: another clinical course of vascular Ehlers-Danlos Syndrome.
    BMJ Case Rep 2017 Sep 23;2017. Epub 2017 Sep 23.
    Department of Cariovascular Medicine, Toho University Ohashi Medical Center, Tokyo, Japan.
    Vascular Ehlers-Danlos Syndrome (vEDS) is a dominantly inherited connective tissue disorder characterised by colon rupture and arterial aneurysm, dissection and rupture. A patient was diagnosed with vEDS after a spontaneous colon rupture when he was brought to our institute because of sudden chest pain. An ECG revealed wide regional ST elevation, which was initially suggestive of acute myocarditis. Read More

    Mobile Cecum in a Young Woman with Ehlers-Danlos Syndrome Hypermobility type: A Case Report and Review of the Literature.
    Intern Med 2017 Oct 15;56(20):2791-2796. Epub 2017 Sep 15.
    Department of Gastroenterology, Fukuoka Tokushukai Medical Center, Japan.
    Ehlers-Danlos syndrome, hypermobility type (EDS-HT) is unexpectedly common and is associated with a high rate of gastrointestinal manifestations. We herein report the first documented case of mobile cecum associated with EDS-HT. A 21-year-old woman with repeated right lower abdominal pain was initially diagnosed with EDS-HT. Read More

    Diagnosis of Ehlers-Danlos syndrome after a first shoulder dislocation.
    J Shoulder Elbow Surg 2018 Jan 14;27(1):65-69. Epub 2017 Sep 14.
    Clinique des Maussins, Paris, France.
    Background: Shoulder dislocation is often the first symptom of Ehlers-Danlos syndrome (EDS). Whether it occurs in early-onset EDS is unknown. In most cases, surgical failure leads to the diagnosis. Read More

    Editor's Choice - Open Thoracic and Thoraco-abdominal Aortic Repair in Patients with Connective Tissue Disease.
    Eur J Vasc Endovasc Surg 2017 Nov 13;54(5):588-596. Epub 2017 Sep 13.
    European Vascular Centre Aachen-Maastricht, Department of Vascular Surgery, RWTH University Hospital Aachen, Aachen, Germany; European Vascular Centre Aachen-Maastricht, Department of Vascular Surgery, AZM University Hospital Maastricht, Maastricht, The Netherlands. Electronic address:
    Objective/background: The aim is to present current results of open complex aortic repair in patients with connective tissue disease (CTD).

    Methods: This was a retrospective cross-border, single centre study. From February 2000 to April 2016 72 aortic operations were performed on 65 patients with CTD (41 male, median age 41 years [range 19-70 years]). Read More

    Understanding fetal factors that contribute to preterm birth: Sjögren-Larsson syndrome as a model.
    J Perinat Med 2017 Sep 15. Epub 2017 Sep 15.
    Aim: Preterm birth is the world's leading cause of neonatal death. Unfortunately, the pathophysiology of preterm birth remains poorly understood. Sjögren-Larsson syndrome is a rare, neurometabolic disorder caused by a fatty aldehyde dehydrogenase deficiency. Read More

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