Search our Database of Scientific Publications and Authors

I’m looking for a

    3506 results match your criteria Ehlers-Danlos Syndrome

    1 OF 71

    A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.
    Genet Med 2017 Jun 15. Epub 2017 Jun 15.
    Connective Tissue Unit, Division of Metabolism and Children's Research Centre, University Children's Hospital, Zurich, Switzerland.
    PurposeIn 2012 we reported in six individuals a clinical condition almost indistinguishable from PLOD1-kyphoscoliotic Ehlers-Danlos syndrome (PLOD1-kEDS), caused by biallelic mutations in FKBP14, and characterized by progressive kyphoscoliosis, myopathy, and hearing loss in addition to connective tissue abnormalities such as joint hypermobility and hyperelastic skin. FKBP14 is an ER-resident protein belonging to the family of FK506-binding peptidyl-prolyl cis-trans isomerases (PPIases); it catalyzes the folding of type III collagen and interacts with type III, type VI, and type X collagens. Only nine affected individuals have been reported to date. Read More

    The Genetics of Aortopathies in Clinical Cardiology.
    Clin Med Insights Cardiol 2017 30;11:1179546817709787. Epub 2017 May 30.
    Yale Cardiovascular Genetics Program, Yale Cardiovascular Research Center, Department of Internal Medicine, Yale School of Medicine, Yale University, New Haven, CT, USA.
    Aortopathies pose a significant healthcare burden due to excess early mortality, increasing incidence, and underdiagnosis. Understanding the underlying genetic causes, early diagnosis, timely surveillance, prophylactic repair, and family screening are keys to addressing these diseases. Next-generation sequencing continues to expand our understanding of the genetic causes of heritable aortopathies, rapidly clarifying their underlying molecular pathophysiology and suggesting new potential therapeutic targets. Read More

    Skeletal muscle morphology, protein synthesis and gene expression in Ehlers Danlos Syndrome.
    J Appl Physiol (1985) 2017 Jun 8:jap.01044.2016. Epub 2017 Jun 8.
    University of Copenhagen.
    Introduction: Patients with Ehlers Danlos Syndrome are known to have genetically impaired connective tissue and skeletal muscle symptoms in form of pain, fatigue and cramps, however earlier studies have not been able to link these symptoms to morphological muscle changes.

    Methods: We obtained skeletal muscle biopsies in patients with classic EDS (cEDS, n=5 (Denmark)+ 8 (The Netherlands)) and vascular EDS (vEDS, n=3) and analyzed muscle fiber morphology and content (Western blotting and muscle fiber type/area distributions) and muscle mRNA expression and protein synthesis rate (RT-PCR and stable isotope technique).

    Results: The cEDS patients did not differ from healthy controls (n = 7-11) with regard to muscle fiber type/area, myosin/α-actin ratio, muscle protein synthesis rate or mRNA expression. Read More

    Surgical and medical treatment of ocular disease in a dog with Ehlers-Danlos syndrome.
    Clin Case Rep 2017 Jun 24;5(6):880-886. Epub 2017 Apr 24.
    AniCura Århus DyrehospitalHasselager Centervej 12Viby J8260Denmark.
    Correctional surgery was performed on a 3-year-old intact male shih tzu presenting with Ehlers-Danlos syndrome, ocular disease, and skin fold dermatitis. A one-year follow-up showed that no further clinical corrections were needed. Therefore, surgery could be considered in some canine patients with Ehlers-Danlos syndrome. Read More

    Spontaneous Coronary Artery Dissection After Pregnancy as First Manifestation of a Vascular Ehlers-Danlos Syndrome.
    J Invasive Cardiol 2017 Jun;29(6):E67-E68
    Cardiovascular Department, Interventional Cardiology, Niguarda Ca' Granda Hospital, Milan, Italy.
    We report the case of a myocardial infarction in the post-partum period due to a spontaneous coronary artery dissection. The role of intracoronary imaging was critical: OCT imaging led us to formulate the right diagnosis.OCT imaging revealed a multiple coronary artery dissection in the left main non-detectable on angiography and in the circumflex, with evidence of coronary hematoma in the circumflex and left anterior descending. Read More

    A magnetic resonance imaging study of gastric motor function in patients with dyspepsia associated with Ehlers-Danlos Syndrome-Hypermobility Type: A feasibility study.
    Neurogastroenterol Motil 2017 May 31. Epub 2017 May 31.
    Centre for Medical Imaging, University College London, London, UK.
    Background: The clinical use of Magnetic Resonance Imaging (MRI) for investigating gastric motor function in dyspepsia is limited, largely due to protocol complexity, cost and limited availability. In this study, we explore the feasibility of a sub 60-minute protocol using a water challenge to assess gastric emptying, motility and accommodation in a cohort of Ehlers-Danlos Syndrome-Hypermobility type (EDS-HT) patients presenting with dyspepsia.

    Methods: Nine EDS-HT patients (mean age 33, range: 26-50 all female) with a history of dyspepsia were recruited together with nine-matched controls. Read More

    Multimodal Chiropractic Care for Pain and Disability in a Patient Diagnosed With Ehlers-Danlos Syndrome-Hypermobility Type: A Case Report.
    J Chiropr Med 2017 Jun 12;16(2):147-155. Epub 2017 Jan 12.
    Private Practice, Research Department, Cleveland Chiropractic College, Overland Park, Kansas (formerly).
    Objective: The purpose of this article is to describe the clinical response to multimodal chiropractic treatment of a patient diagnosed with Ehlers-Danlos syndrome, hypermobility type (EDS-HT), and chronic pain.

    Clinical Features: A 22-year-old woman presented with severe chronic neck and low back pain, headaches, and bilateral hand pain and stiffness. In addition to these pain complaints, the patient had a family history of EDS, weekly or daily recurring joint dislocations, and upper and lower extremity joint hypermobility. Read More

    Genetic diagnostics of inherited aortic diseases : Medical strategy analysis.
    Herz 2017 May 29. Epub 2017 May 29.
    Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
    Genetic aortic syndromes (GAS) include Marfan, Loeys-Dietz, vascular Ehlers-Danlos, and Turner syndrome as well as congenital bicuspid aortic valve. The clinical management of these diseases has certain similarities and differences. We employed medical strategy analysis to test the utility of genetic diagnostics in the management of GAS. Read More

    Brugada Syndrome in a Patient with Vascular Ehlers-Danlos Syndrome: Sudden Death Risk Amplified.
    Cureus 2017 Apr 19;9(4):e1178. Epub 2017 Apr 19.
    Internal Medicine, Florida Hospital-Orlando.
    The vast majority of sudden cardiac arrests occur in patients with structural heart disease and in approximately 10% of the cases, it can occur in those with structurally normal hearts. Brugada syndrome is an autosomal dominant sodium channelopathy that has been implicated in sudden deaths. Given their low prevalence, our knowledge about Brugada syndrome is still evolving. Read More

    Right Ring Finger Volar Mass in a 14-Year-Old Boy.
    Orthopedics 2017 May 20:1-3. Epub 2017 May 20.
    A trigger digit is relatively uncommon in adolescents and often has a different etiology in that age group vs adults. In the pediatric population, trigger digits frequently arise from a variety of underlying anatomic situations, including thickening of the flexor digitorum superficialis or flexor digitorum profundus tendons, an abnormal relationship between the flexor digitorum superficialis and flexor digitorum profundus tendons, a proximal flexor digitorum superficialis decussation, or constriction of the pulleys. In addition, underlying conditions such as mucopolysaccharidosis, juvenile rheumatoid arthritis, Ehlers-Danlos syndrome, and central nervous system disorders such as delayed motor development have been associated with triggering. Read More

    Family with Ehlers-Danlos syndrome (combined classic and vascular type) with rare presentation of progressive myopathy and unusual association of severe facial and trigeminal motor weakness.
    Neurol India 2017 May-Jun;65(3):561-565
    Department of Neurology, National Institute of Mental Health and Neuro Sciences, Bengaluru, Karnataka, India.
    We report the clinical, radiological, biochemical, muscle histology, and electron microscopic features of two members of a family with combined Ehlers-Danlos syndrome (EDS) [classic and vascular type] and progressive myopathy as the primary manifestation. A 35-year old lady presented with severe gluteal and thigh muscle pain and easy fatigability for 5 years. She developed weakness and wasting of pelvic and pectoral girdles and thighs for 3 years and severe neck flexor and truncal weakness for 6 months. Read More

    Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients.
    Clin Genet 2017 May 9. Epub 2017 May 9.
    Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy.
    Classical Ehlers-Danlos syndrome (cEDS) is characterized by marked cutaneous involvement that is defined by many criteria of the Villefranche nosology and the 2017 revision. However, the diagnostic flow-chart that prompts molecular testing is still based on experts' opinion rather than systematic published data. Here we report on 62 molecularly characterized cEDS patients with focus on skin, mucosae, face, and joint hypermobility. Read More

    Superior Semicircular Canal Dehiscence in a Patient with Ehlers-Danlos Syndrome: A Case Report.
    Cureus 2017 Apr 6;9(4):e1141. Epub 2017 Apr 6.
    Neurosurgery, David Geffen School of Medicine, University of California, Los Angeles.
    Superior semicircular canal dehiscence (SSCD) is a bony defect in the middle cranial fossa floor that results in an abnormal connection between the inner ear and cranial vault. Although the etiology of SSCD remains unclear, an inappropriately thin or fragile temporal bone likely predisposes an individual towards developing SSCD. Ehlers-Danlos syndrome (EDS) constitutes a group of genetic connective tissue disorders caused by a defect in the production, processing, or structure of collagen, or its associated proteins. Read More

    Pregnancy and mesenchimal dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia).
    J Matern Fetal Neonatal Med 2017 Jun 13:1-9. Epub 2017 Jun 13.
    a I.M. Sechenov First Moscow State Medical University of the Public Health Ministry of the Russian Federation , Moscow , Russia.
    The objective of this article is to attract the attention of clinical physicians to the rare but extremely relevant clinical pathology of mesenchymal dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia) and especially specific characteristics of such diseases during pregnancy. Connective tissue pathology can cover different organs and systems, symptoms of the same disease can vary in different patients thus making diagnostics significantly difficult. Here clinical diagnostic criteria and methods of molecular diagnostics of diseases are described. Read More

    Features that exacerbate fatigue severity in joint hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type.
    Disabil Rehabil 2017 May 9:1-8. Epub 2017 May 9.
    a Discipline of Biomedical Science, School of Medical Sciences , Sydney Medical School, The University of Sydney , Sydney , Australia.
    Aim: To assess the prevalence, severity and impact of fatigue on individuals with joint hypermobility syndrome (JHS)/Ehlers-Danlos syndrome - hypermobility type (EDS-HT) and establish potential determinants of fatigue severity in this population.

    Methods: Questionnaires on symptoms and signs related to fatigue, quality of life, mental health, physical activity participation and sleep quality were completed by people with JHS/EDS-HT recruited through two social media sites. Multiple regression analysis was performed to identify predictors of fatigue in this population. Read More

    Atraumatic Acromioclavicular Dislocation: A Case Report and Review of the Literature.
    Case Rep Orthop 2017 5;2017:8450538. Epub 2017 Apr 5.
    Groene Hart Ziekenhuis, Bleulandweg 10, 2803 HH Gouda, Netherlands.
    Acromioclavicular dislocation (AC dislocation) is a common injury of the shoulder. In contrast to a traumatic cause, nontraumatic dislocation is very rare. We report on a 17-year-old female that presented with voluntary recurrent dislocation of the right AC joint followed by recurrent pain without instability of the ipsilateral shoulder. Read More

    Genetic factors influencing the reduction of central corneal thickness in disorders affecting the eye.
    Ophthalmic Genet 2017 Apr 28:1-10. Epub 2017 Apr 28.
    a Institute of Human Genetics, Polish Academy of Sciences , Poznan , Poland.
    Background: The aim was to summarize and discuss the current knowledge about genetic factors influencing the reduction of central corneal thickness (CCT) in disorders affecting the eye, such as primary open-angle glaucoma (POAG), brittle cornea syndrome (BCS), keratoconus (KTCN), Ehlers-Danlos syndrome (EDS; types I, II, and VI), osteogenesis imperfecta (OI), and myopia.

    Materials And Methods: A review of the published literature by use of key databases such as PubMed was undertaken in accordance with PRISMA guidelines and experience based on own research findings was applied.

    Results: The differences in CCT measurements among those affected with diverse disorders and healthy individuals were evaluated. Read More

    Natural history of aortic root dilation through young adulthood in a hypermobile Ehlers-Danlos syndrome cohort.
    Am J Med Genet A 2017 Jun 24;173(6):1467-1472. Epub 2017 Apr 24.
    Division of Human Genetics, Department of Pediatrics, Children's Hospital Medical Center, Cincinnati, Ohio.
    Hypermobile Ehlers-Danlos syndrome (hEDS) is a common inherited connective tissue disorder characterized by joint hypermobility. The natural history of aortic root dilation (AoD), a potential complication of EDS, has not been well characterized in this population. We describe the natural history of aortic root size in a large cohort of patients with hEDS. Read More

    Compound heterozygous mutations in COL1A1 associated with an atypical form of type I osteogenesis imperfecta.
    Am J Med Genet A 2017 Apr 24. Epub 2017 Apr 24.
    Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania.
    Heterozygous mutations in the genes encoding the proα1(I) or proα2(I) chains of type I procollagen (COL1A1 and COL1A2, respectively) account for most cases of osteogenesis imperfecta (OI), a disorder characterized by reduced bone strength and increased fracture risk. COL1A1 mutations can also cause rare cases of Ehlers-Danlos syndrome (EDS), a disorder that primarily affects connective tissue and often includes reduced bone mass. Here we present a kindred of three young siblings ages 1-4 years old whose mother has a history of mild type I OI. Read More

    The natural history of children with joint hypermobility syndrome and Ehlers-Danlos hypermobility type: a longitudinal cohort study.
    Rheumatology (Oxford) 2017 Apr 18. Epub 2017 Apr 18.
    Department of Health Professions, Macquarie University.
    Objectives.: The objective of the manuscript was to describe the natural history of complaints and disability in children diagnosed with joint hypermobility syndrome (JHS)/Ehlers-Danlos-hypermobility type (EDS-HT) and to identify the constructs that underlie functional decline.

    Methods. Read More

    Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome.
    Sci Rep 2017 Apr 19;7:46565. Epub 2017 Apr 19.
    Department of Dermatology, Kochi Medical School, Nankoku 783-8505, Japan.
    Mowat-Wilson syndrome (MOWS) is a congenital disease caused by de novo heterozygous loss of function mutations or deletions of the ZEB2 gene. MOWS patients show multiple anomalies including intellectual disability, a distinctive facial appearance, microcephaly, congenital heart defects and Hirschsprung disease. However, the skin manifestation(s) of patients with MOWS has not been documented in detail. Read More

    Collagen V haploinsufficiency in a murine model of classic Ehlers-Danlos syndrome is associated with deficient structural and mechanical healing in tendons.
    J Orthop Res 2017 Apr 7. Epub 2017 Apr 7.
    McKay Orthopaedic Research Laboratory, University of Pennsylvania, Philadelphia, Pennsylvania.
    Classic Ehlers-Danlos syndrome (EDS) patients suffer from connective tissue hyperelasticity, joint instability, skin hyperextensibility, tissue fragility, and poor wound healing due to heterozygous mutations in COL5a1 or COL5a2 genes. This study investigated the roles of collagen V in establishing structure and function in uninjured patellar tendons as well as in the injury response using a Col5a1(+/-) mouse, a model for classic EDS. These analyses were done comparing tendons from a classic EDS model (Col5a1(+/-) ) with wild-type controls. Read More

    A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations.
    Clin Genet 2017 Apr 6. Epub 2017 Apr 6.
    UOC Genetica Medica, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy.
    Deletions encompassing TAK1-binding protein 2 (TAB2) associate with isolated and syndromic congenital heart defects. Rare missense variants are found in patients with a similar phenotype as well as in a single individual with frontometaphyseal dysplasia. We describe a family and an additional sporadic patient with polyvalvular heart disease, generalized joint hypermobility and related musculoskeletal complications, soft, velvety and hyperextensible skin, short limbs, hearing impairment, and facial dysmorphism. Read More

    Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders.
    Pharmaceuticals (Basel) 2017 Mar 27;10(2). Epub 2017 Mar 27.
    Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, 150 Yagotoyama, Tempaku-ku, Nagoya 468-8503, Japan.
    The indispensable roles of dermatan sulfate-proteoglycans (DS-PGs) have been demonstrated in various biological events including construction of the extracellular matrix and cell signaling through interactions with collagen and transforming growth factor-β, respectively. Defects in the core proteins of DS-PGs such as decorin and biglycan cause congenital stromal dystrophy of the cornea, spondyloepimetaphyseal dysplasia, and Meester-Loeys syndrome. Furthermore, mutations in human genes encoding the glycosyltransferases, epimerases, and sulfotransferases responsible for the biosynthesis of DS chains cause connective tissue disorders including Ehlers-Danlos syndrome and spondyloepimetaphyseal dysplasia with joint laxity characterized by skin hyperextensibility, joint hypermobility, and tissue fragility, and by severe skeletal disorders such as kyphoscoliosis, short trunk, dislocation, and joint laxity. Read More

    Mutation in TNXB gene causes moderate to severe Ehlers-Danlos syndrome.
    World J Med Genet 2016 May;6(2):17-21
    Department of Psychiatry, Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS 66160, United States.
    We report a 28-year-old female who presented with severe joint pain, chronic muscle weakness, Raynaud's phenomenon, and hypermobility. She was found to have a 6074A > T nucleotide transition in the TNXB gene causing an amino acid protein change at Asp2025Val classified as likely pathogenic. We add this clinical report to the literature and classical human disease gene catalogs to identify this specific mutation as disease-causing. Read More


    The evidence-based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome.
    Am J Med Genet C Semin Med Genet 2017 Mar;175(1):158-167
    New insights into the phenotype of Joint Hypermobility Syndrome (JHS) and Ehlers-Danlos Syndrome-hypermobile type (hEDS) have raised many issues in relation to classification, diagnosis, assessment, and treatment. Within the multidisciplinary team, physical therapy plays a central role in management of individuals with hypermobility related disorders. However, many physical therapists are not familiar with the diagnostic criteria, prevalence, common clinical presentation, and management. Read More

    Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome.
    Am J Med Genet C Semin Med Genet 2017 Mar;175(1):40-47
    Vascular Ehlers Danlos syndrome (vEDS) is an uncommon genetic disorders characterized by arterial aneurysm, dissection and rupture, bowel rupture, and rupture of the gravid uterus. The frequency is estimated as 1/50,000-1/200,000 and results from pathogenic variants in COL3A1, which encodes the chains of type III procollagen, a major protein in vessel walls and hollow organs. Initial diagnosis depends on the recognitions of clinical features, including family history. Read More

    Endovascular treatment of a dural arteriovenous fistula in a patient with Loeys-Dietz syndrome: A case report.
    Interv Neuroradiol 2017 Apr 23;23(2):206-210. Epub 2017 Jan 23.
    2 Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan.
    Background Loeys-Dietz syndrome (LDS) is a recently recognized autosomal dominant connective tissue disease. The manifestations of LDS include vascular tortuosity, scoliosis, craniosynostosis, aneurysm and aortic dissections. Clinical presentation A 35-year-old woman treated with Stanford type B aortic dissection and breast cancer was referred to us for Borden type II dural arteriovenous fistula (dAVF) draining to the vein of Galen, involving the midline of tentorium cerebelli. Read More

    Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure?
    Biomed Res Int 2017 12;2017:9161865. Epub 2017 Feb 12.
    Department of Heart and Great Vessels "A. Reale", Sapienza University of Rome, Rome, Italy.
    Background. Joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT), is a hereditary connective tissue disorder mainly characterized by generalized joint hypermobility, skin texture abnormalities, and visceral and vascular dysfunctions, also comprising symptoms of autonomic dysfunction. This study aims to further evaluate cardiovascular autonomic involvement in JHS/EDS-HT by a battery of functional tests. Read More

    Joint Hypermobility Syndrome: Recognizing a Commonly Overlooked Cause of Chronic Pain.
    Am J Med 2017 Jun 10;130(6):640-647. Epub 2017 Mar 10.
    Division of Immunology, University of Iowa, Iowa City.
    Joint hypermobility syndrome, also known as benign hypermobility syndrome, is a connective tissue disease characterized by joint instability, chronic pain, and minor skin changes. It shares many clinical features of Ehlers-Danlos syndrome, Hypermobility Type; enough so that many authorities consider them as one disease process. Approximately 3% of the general population is believed to have joint hypermobility syndrome, but despite this high prevalence, due to lack of awareness, heterogeneity of clinical presentation, and reliance on physical examination for diagnosis, it is largely overlooked by primary care physicians as well as by specialists. Read More

    Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type.
    Am J Med Genet A 2017 Apr 7;173(4):914-929. Epub 2017 Mar 7.
    Unit of Clinical Genetics, San Camillo-Forlanini General Hospital, Rome, Italy.
    Joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome, hypermobility type (EDS-HT) are two overlapping heritable disorders (JHS/EDS-HT) recognized by separated sets of diagnostic criteria and still lack a confirmatory test. This descriptive research was aimed at better characterizing the clinical phenotype of JHS/EDS-HT with focus on available diagnostic criteria, and in order to propose novel features and assessment strategies. One hundred and eighty-nine (163 females, 26 males; age: 2-73 years) patients from two Italian reference centers were investigated for Beighton score, range of motion in 21 additional joints, rate and sites of dislocations and sprains, recurrent soft-tissue injuries, tendon and muscle ruptures, body mass index, arm span/height ratio, wrist and thumb signs, and 12 additional orthopedic features. Read More

    Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome.
    Am J Med Genet A 2017 Apr 6;173(4):1047-1050. Epub 2017 Mar 6.
    Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.
    Type I collagen is the predominant protein of connective tissues such as skin and bone. Mutations in the type I collagen genes (COL1A1 and COL1A2) mainly cause osteogenesis imperfecta (OI). We describe a patient with clinical signs of Ehlers-Danlos syndrome (EDS), including fragile skin, easy bruising, recurrent luxations, and fractures resembling mild OI. Read More

    Mast cell disorders in Ehlers-Danlos syndrome.
    Am J Med Genet C Semin Med Genet 2017 Mar 6;175(1):226-236. Epub 2017 Mar 6.
    Well known for their role in allergic disorders, mast cells (MCs) play a key role in homeostatic mechanisms and surveillance, recognizing and responding to different pathogens, and tissue injury, with an array of chemical mediators. After being recruited to connective tissues, resident MCs progenitors undergo further differentiation, under the influence of signals from surrounding microenvironment. It is the differential tissue homing and local maturation factors which result in a diverse population of resident MC phenotypes. Read More

    Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.
    J Med Genet 2017 Jun 3;54(6):432-440. Epub 2017 Mar 3.
    Neurogenetics Research Group, Research Cluster Reproduction, Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels, Belgium.
    Background: Collagens are one of the major constituents of the pial membrane, which plays a crucial role in neuronal migration and cortical lamination during brain development. Type III procollagen, the chains of which are encoded by COL3A1, is the ligand of the G protein-coupled receptor 56 (GPR56), also known as adhesion G protein-coupled receptor G1. Bi-allelic mutations in GPR56 give rise to cobblestone-like malformation, white matter changes and cerebellar dysplasia. Read More

    Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency.
    Clin Biochem 2017 Feb 24. Epub 2017 Feb 24.
    Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, 150 Yagotoyama, Tempaku-ku, Nagoya 468-8503, Japan; Laboratory of Proteoglycan Signaling and Therapeutics, Graduate School of Life Science Hokkaido University, Sapporo 001-0021, Japan. Electronic address:
    Purpose: Dermatan sulfate (DS) plays a number of roles in a wide range of biological activities such as cell signaling and tissue morphogenesis through interactions with various extracellular matrix proteins including collagen. Mutations in the carbohydrate sulfotransferase 14 gene (CHST14) encoding CHST14/dermatan 4-O-sulfotransferase-1 (D4ST1), which is responsible for the biosynthesis of DS, cause a recently delineated form of Ehlers-Danlos syndrome (EDS, musculocontractural type 1), an autosomal recessive connective tissue disorder characterized by congenital malformations (specific craniofacial features, and congenital multiple contractures) and progressive fragility-related complications (skin hyperextensibility, bruisability, and fragility with atrophic scars; recurrent dislocations; progressive talipes or spinal deformities; and large subcutaneous hematomas). In an attempt to develop a diagnostic screening method for this type of EDS, the amount of DS in the urine of patients was analyzed. Read More

    Neurological and spinal manifestations of the Ehlers-Danlos syndromes.
    Am J Med Genet C Semin Med Genet 2017 Mar 21;175(1):195-211. Epub 2017 Feb 21.
    The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin extensibility, and tissue fragility. This communication briefly reports upon the neurological manifestations that arise including the weakness of the ligaments of the craniocervical junction and spine, early disc degeneration, and the weakness of the epineurium and perineurium surrounding peripheral nerves. Entrapment, deformation, and biophysical deformative stresses exerted upon the nervous system may alter gene expression, neuronal function and phenotypic expression. Read More

    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 Mar 13;175(1):27-39. 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 Mar 13;175(1):220-225. 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 Mar 13;175(1):188-194. 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 Jun 12;29(6). 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 Mar 10;175(1):175-180. 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 Mar 10;175(1):212-219. 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 Mar 10;175(1):237-245. 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 Mar 10;175(1):181-187. 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

    1 OF 71