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    Successful treatment of direct carotid-cavernous fistula in a patient with Ehlers-Danlos syndrome type IV without arterial puncture: the transvenous triple-overlay embolization (TAILOREd) technique.
    BMJ Case Rep 2017 Aug 18;2017. Epub 2017 Aug 18.
    Department of Radiology, University of Washington, Seattle, Washington, USA.
    We report successful transvenous treatment of direct carotid-cavernous fistula in a patient with Ehlers-Danlos syndrome type IV using a novel triple-overlay embolization (TAILOREd) technique without the need for arterial puncture, which is known to be highly risky in this patient group. The TAILOREd technique allowed for successful treatment using preoperative MR angiography as a three-dimensional overlay roadmap combined with cone beam CT and live fluoroscopy, precluding the need for an arterial puncture. Read More

    Spontaneous Diaphragmatic Rupture in Hypermobile Type Ehlers-Danlos Syndrome.
    Case Rep Surg 2017 13;2017:2081725. Epub 2017 Jul 13.
    Department of Surgery, University of Nebraska Medical Center, Omaha, NE, USA.
    Ehlers-Danlos Syndrome refers to a spectrum of connective tissue disorders that have a variety of clinical manifestations. In this case, we present a spontaneous diaphragmatic rupture in a patient with type III Ehlers-Danlos Syndrome. The patient presented with worsening shortness of breath after failure of medical therapy for a presumed pneumonia. Read More

    Ehlers-Danlos hypermobility type in an adult with chronic pain and fatigue: a case study.
    Clin Case Rep 2017 Aug 20;5(8):1248-1251. Epub 2017 Jun 20.
    Thomas Jefferson UniversityPhiladelphiaPennsylvaniaUSA.
    Ehlers-Danlos syndrome hypermobility type (EDS-HT) is an underdiagnosed genetic connective tissue disorder that causes joint hypermobility and widespread pain. We present a patient with the chief complaint of shoulder pain, a long history of widespread joint pain, and associated comorbidities. EDS-HT provided a unifying diagnosis and direction for management. Read More

    Changes in skin structure of the Zip13-KO mouse by Makomo (Zizania latifolia) feeding.
    J Vet Med Sci 2017 Aug 4. Epub 2017 Aug 4.
    Laboratory of Microanatomy, School of Veterinary Medicine, Rakuno Gakuen University.
    Ehlers-Danlos syndrome (EDS) is a group of disorders caused by abnormalities in the extracellular matrix (ECM). Transforming growth factor-β (TGF-β) plays a crucial role in formation of the ECM by the SMAD (Sma-and Mad-related protein, mothers against decapentaplegic homolog) pathway. It has been reported that loss of function of zinc transporter ZRT/IRT-like protein 13 (ZIP13) is the cause of the spondylocheiro dysplastic form of EDS (SCD-EDS: OMIM 612350). Read More

    Pharmacology and drug development in rare diseases: the attractiveness and expertise of the French medical pharmacology.
    Fundam Clin Pharmacol 2017 Aug 5. Epub 2017 Aug 5.
    Service de Pharmacologie Clinique et Pharmacovigilance, AP-HM, 13385 Marseille, Pharmacologie intégrée et interface clinique et industriel, Orphandev-FCRIN, Institut des Neurosciences Timone - AMU-CNRS 7289, Aix Marseille Université, France.
    Developing drugs for rare disease can be challenging due to specific rare disease characteristics. The French Medical Pharmacology is structured and positioned to play a major role in Orphan Drug Research and Development due to the required expertise concentrated into pharmacology departments, exclusively implemented within the French University Hospitals, public hospitals that are linked to a medical school (and often a pharmacy school) with numerous INSERM or CNRS labelled research units. In addition, these structures allow a close collaboration between researchers, academic institutions and biotech start-up (most of them being spin-off of the academic structures). Read More

    Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis.
    Eur J Med Genet 2017 Jul 27. Epub 2017 Jul 27.
    Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands; Department of Medical Genetics, St George's University of London, London, UK.
    We report two children with Ehlers Danlos, kyphoscoliotic type confirmed by Lysyl Hydroxylase 1 deficiency due to bi-allelic PLOD1 mutations (kEDS-PLOD1) who were initially thought to have either a diagnosis of classical EDS (cEDS) or a neuromuscular disorder due to absence of (congenital) scoliosis. As the two patients reported here illustrate, patients with kEDS-PLOD1 do not always have a kyphoscoliosis present at birth or in the first year of life, neither do they necessarily develop kyphoscoliosis later in infancy. Using the past criteria for kEDS there was considerable overlap with the clinical diagnostic criteria for EDS classical type. Read More

    Celiprolol: A Unique Selective Adrenoceptor Modulator.
    Cardiol Rev 2017 Sep/Oct;25(5):247-253
    From the *College of Pharmacy, University of New Mexico, Albuquerque, NM; †Department of Clinical Pharmacy, Albert Einstein College of Medicine/Montefiore Medical Center, Bronx, NY; and ‡Department of Medicine, New York Medical College/Westchester Medical Center, Valhalla, NY.
    Celiprolol is a β-blocker with a unique pharmacologic profile: it is a β1-andrenoceptor antagonist with partial β2 agonist activity. Given this combination of effects, celiprolol may be better described as a selective adrenoreceptor modulator. It has antihypertensive and antianginal properties and is indicated for those uses in various countries around the world. Read More

    Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.
    Am J Med Genet A 2017 Sep 25;173(9):2534-2538. Epub 2017 Jul 25.
    Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, Berlin, Germany.
    Vascular Ehlers-Danlos syndrome (type IV) is an autosomal dominant disorder caused by heterozygous variants of COL3A1. We identified biallelic COL3A1 variants in two unrelated families. In a 3-year-old female with developmental delay the nonsense variant c. Read More

    Stroke in Ehlers-Danlos Syndrome Kyphoscoliotic Type: Dissection or Vasculitis?
    Pediatr Neurol 2017 Sep 29;74:92-96. Epub 2017 May 29.
    Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
    Background: Patients with the kyphoscoliotic type of Ehlers-Danlos syndrome have an increased risk of vascular complications such as aortic dissection and perforation. Cerebral ischemia has only rarely been documented.

    Patient Description: This 13-year-old girl with the kyphoscoliotic type of Ehlers-Danlos syndrome experienced a large right middle cerebral artery distribution infarction. Read More

    Deficits in Col5a2 Expression Result in Novel Skin and Adipose Abnormalities and Predisposition to Aortic Aneurysms and Dissections.
    Am J Pathol 2017 Jul 19. Epub 2017 Jul 19.
    Department of Cell and Regenerative Biology, University of Wisconsin, Madison, Wisconsin. Electronic address:
    Classic Ehlers-Danlos syndrome (cEDS) is characterized by fragile, hyperextensible skin and hypermobile joints. cEDS can be caused by heterozygosity for missense mutations in genes COL5A2 and COL5A1, which encode the α2(V) and α1(V) chains, respectively, of collagen V, and is most often caused by COL5A1 null alleles. However, COL5A2 null alleles have yet to be associated with cEDS or other human pathologies. Read More

    Brain Strokes Related to Aortic Aneurysma - the Analysis of three Cases.
    Open Med (Wars) 2017 4;12:58-61. Epub 2017 Apr 4.
    Department of Neurology, Specialized Regional Hospital, Ciechanów, Poland.
    Brain stroke connected with aortic blood flow disturbances is a rare disease and its incidence is difficult to assume. Nevertheless, 10-50% of patients with aortic dissection may not experience any pain. In case of 18-30% patients with aortic dissection neurological signs are first disease presentation and among them ischemic stroke is the most common. Read More

    Update in the Treatment of Chronic Pain within Pediatric Patients.
    Curr Probl Pediatr Adolesc Health Care 2017 Jul 15;47(7):167-172. Epub 2017 Jul 15.
    Children's National Health System, Washington, DC.
    Pediatric chronic pain is a challenging entity to evaluate and treat as it encompasses a wide variety of presentations often with overlapping psychosocial implications. Chronic pain may have significant effects upon a child's involvement in academic, athletic, and social participation. If unrecognized, it may have deleterious effects upon family interactions and stability. Read More

    Endovascular treatment of genetically linked aortic diseases.
    Gefasschirurgie 2017 9;22(Suppl 1):1-7. Epub 2017 Jan 9.
    Klinik für Gefäßchirurgie und Endovaskuläre Chirurgie, Universitätsklinikum Heidelberg, Im Neuenheimer Feld 110, 69120 Heidelberg, Germany.
    Background: The most important structural proteins of the vascular wall are collagen and elastin. Genetically linked connective tissue diseases lead to degeneration, aneurysm formation and spontaneous dissection or rupture of arteries. The most well-known are Marfan syndrome, vascular Ehlers-Danlos syndrome (type IV), Loeys-Dietz syndrome and familial aortic aneurysms and dissections. Read More

    [Claude Bernard-Horner syndrome revealing spontaneous aneurysm of the vertebral artery].
    J Med Vasc 2017 Jul 30;42(4):244-247. Epub 2017 May 30.
    Service de chirurgie vasculaire, hôpital militaire d'instruction Mohammed V, Hay Riad, Rabat, Maroc.
    False aneurysms of the extracranial vertebral artery (FAVA) are rare because of the path of the artery at the level of the transverse holes. They can be secondary to penetrating cervical trauma, spontaneous in the course of an angiopathy such as Ehlers-Danlos syndrome, or iatrogenic. We report the case of a 31-year-old woman who presented a syndrome of Claude Bernard-Horner related to a spontaneous FAVA. Read More

    [Second Pneumothorax in an Ehlers-Danlos Syndrome Patient Initially Treated by Bullaectomy Twenty-two Years Ago].
    Kyobu Geka 2017 Jul;70(7):501-503
    Department of Thoracic Surgery, Ishinomaki Red Cross Hospital, Isihinomaki, Japan.
    A 2nd pneumothorax developed in a 40-years-old man after his 1st bilateral pneumothoraces were successfully treated by bullaectomies 22 years ago. For the past 10 years, he has suffered major complications such as repeated bleeding into the digestive tract due to vascular-type Ehlers-Danlos syndrome (vEDS). Although preoperative computed tomography demonstrated multiple bullae at the apex of the right lung, any abnormal findings suggesting tissue fragility was not found. Read More

    Kyphoscolitic Type of Ehlers-Danlos Syndrome with Prenatal Stroke.
    Indian Pediatr 2017 Jun;54(6):495-497
    Department of Neonatologie and #Medical Imaging Service, Assistance Publique-Hôpitaux de Marseille, Hospital Nord, 13015 Marseille, France. Correspondence to: Dr Barthelemy Tosello, Department of Neonatology, Hospital Nord, Chemin des Bourelly, 13015 Marseille, France.
    Background: The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS type VIA) is an autosomal recessive disorder characterized by connective tissue dysplasia.

    Case Characteristics: We report two children with perinatal stroke; accompanied by neonatal joint hypermobility, hypotonia; and early development of kyphoscoliosis.

    Outcome: Molecular analysis revealed a PLOD1 gene mutation. Read More

    The spectrum of spontaneous coronary artery dissection: illustrated review of the literature.
    Acta Cardiol 2017 Jun 28:1-11. Epub 2017 Jun 28.
    a Department of Cardiology , Ghent University Hospital , Ghent , Belgium.
    Spontaneous coronary artery dissection or SCAD is a rare and challenging disease that is increasingly diagnosed. It is characterized by a non-traumatic, non-iatrogenic separation of the coronary artery wall and occurs predominantly in young and middle-aged women without traditional cardiovascular risk factors. SCAD is often associated with predisposing conditions such as the peripartum period, systemic inflammatory disease and heritable connective tissue disease. Read More

    Increased Prevalence of Cerebrovascular Disease in Hospitalized Patients with Ehlers-Danlos Syndrome.
    J Stroke Cerebrovasc Dis 2017 Aug 21;26(8):1678-1682. Epub 2017 Jun 21.
    Department of Radiology, Mayo Clinic, Rochester, Minnesota.
    Background And Purpose: Small studies have suggested that Ehlers-Danlos syndrome (EDS) is associated with a number of cerebrovascular complications. We sought to determine whether a clinical diagnosis of EDS is associated with a higher prevalence of cerebrovascular diseases than the general population by performing a case-control study of hospitalized patients in the Nationwide Inpatient Sample (NIS).

    Methods: Using the 2000-2012 NIS, we performed a case-control study matching cases of EDS to controls without such a diagnosis. Read More

    Ehlers-Danlos Syndrome, Hypermobility Type: Impact of Somatosensory Orthoses on Postural Control (A Pilot Study).
    Front Hum Neurosci 2017 8;11:283. Epub 2017 Jun 8.
    COMETE, INSERM, UNICAEN, Normandie UniversitéCaen, France.
    Elhers-Danlos syndrome (EDS) is the clinical manifestation of connective tissue disorders, and comprises several clinical forms with no specific symptoms and selective medical examinations which result in a delay in diagnosis of about 10 years. The EDS hypermobility type (hEDS) is characterized by generalized joint hypermobility, variable skin hyperextensibility and impaired proprioception. Since somatosensory processing and multisensory integration are crucial for both perception and action, we put forth the hypothesis that somatosensory deficits in hEDS patients may lead, among other clinical symptoms, to misperception of verticality and postural instability. Read More

    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 Sep 31;29(9). 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 Aug;42(5):459-467
    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

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