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    1 OF 73

    Can H -receptor upregulation and raised histamine explain an anaphylactoid reaction on cessation of ranitidine in a 19-year-old female? A case report.
    Br J Clin Pharmacol 2018 Apr 18. Epub 2018 Apr 18.
    Pharmacology, Leicester School of Pharmacy, De Montfort University, Leicester, UK.
    The anaphylactoid reaction described follows cessation of ranitidine in a 19-year-old female with the disease cluster: mast cell activation syndrome, hypermobile Ehlers-Danlos syndrome and postural tachycardia syndrome. Anaphylaxis can give wide-ranging symptoms from rhinorrhoea and urticaria to tachycardia and system-wide, life-threatening, anaphylactic shock. Individuals with a disorder of mast cell activation can experience many such symptoms. Read More

    Knee joint instability after total knee replacement in a patient with Ehlers-Danlos syndrome: the role of insert changes as practical solution.
    BMJ Case Rep 2018 Apr 17;2018. Epub 2018 Apr 17.
    Orthopaedic Surgery, HagaZiekenhuis, The Hague, The Netherlands.
    Treatment of knee joint instability in patients with hypermobile Ehlers-Danlos syndrome (EDS) can be challenging. A 53-year-old woman with hypermobile EDS underwent bilateral total knee replacement (TKR) due to valgus osteoarthritis. During follow-up, she developed hypermobility of both knee replacements. Read More

    The prevalence of generalized and syndromic hypermobility in elite Australian dancers.
    Phys Ther Sport 2018 Mar 2;32:15-21. Epub 2018 Mar 2.
    The University of Sydney, Discipline of Biomedical Science, Sydney Medical School, New South Wales, Australia. 75 East St, Lidcombe, New South Wales, 1825, Australia. Electronic address:
    Objectives: To determine the prevalence of Generalized Joint Hypermobility (GJH) and Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobility Type (JHS/EDS-HT) among dancers using established validated measures.

    Design: Observational Cohort Study.

    Setting: Laboratory. Read More

    Prospective Cardiovascular Genetics Evaluation in Spontaneous Coronary Artery Dissection.
    Circ Genom Precis Med 2018 Apr;11(4):e001933
    Background: Previous studies describing genetics evaluation in spontaneous coronary artery dissection (SCAD) have been retrospective in nature or presented as single case reports. As part of a dedicated clinical program, we evaluated patients in cardiovascular genetics clinic to determine the role of genetically triggered vascular disease and genetic testing in SCAD.

    Methods And Results: Patient data were entered prospectively into the Massachusetts General Hospital SCAD registry database from July 2013 to September 2017. Read More

    [S2-Guideline: Pediatric Flat Foot].
    Z Orthop Unfall 2018 Apr 9. Epub 2018 Apr 9.
    Orthopädische Klinik, Klinikum Stuttgart Olgahospital und Frauenklinik, Stuttgart.
    In pediatric flat foot a differentiation has to be made between the flexible and the rigid form. The diagnosis is based on the history, clinical examination as well as pedobarography, gait analysis and imaging techniques. It is important to rule out neuropediatric conditions such as muscular dystrophies, Ehlers-Danlos- or Marfan syndrome. Read More

    Biomechanical properties of the patellar tendon in children with heritable connective tissue disorders.
    Eur J Appl Physiol 2018 Apr 5. Epub 2018 Apr 5.
    Institute of Sports Medicine, Department of Orthopaedic Surgery M, Bispebjerg Hospital and Center for Healthy Aging, Faculty of Health and Medical Sciences, University of Copenhagen, Bispebjerg Bakke 23, 2400, Copenhagen, Denmark.
    Purpose: Hereditary connective tissue disorders (HCTDs), such as classic Ehlers-Danlos syndrome (cEDS) and Marfan syndrome (MS) share overlapping features like hypermobility and tissue fragility. In clinical practice it remains a challenge to distinguish children and adolescents with HCTD from healthy children. The purpose of this study was to investigate the biomechanical properties of the patellar tendon and joint laxity (Beighton score) in children with HCTDs (n = 7) compared to healthy controls (n = 14). Read More

    Spinal Anaesthesia for Cesarean Section in a Patient with Vascular Type Ehlers-Danlos Syndrome.
    Case Rep Anesthesiol 2018 28;2018:1924725. Epub 2018 Jan 28.
    Department of Anesthesiology, Naval Medical Center Portsmouth, Portsmouth, VA, USA.
    We report the administration of spinal anaesthesia for cesarean delivery in a parturient with vascular Ehlers-Danlos syndrome. Parturients who genetically inherit this disorder are at risk for significant morbidity and mortality. Risks during pregnancy include premature labor, uterine prolapse, and uterine rupture. Read More

    Thoracoabdominal aortic replacement in patients aged 50 and younger.
    Gen Thorac Cardiovasc Surg 2018 Apr 2. Epub 2018 Apr 2.
    National Cerebral and Cardiovascular Center, Suita, Japan.
    Objective: Open repair of a thoracoabdominal aortic aneurysm (TAAA) has been regarded as one of the most invasive procedures in cardiovascular surgery. Conversely, endovascular technology currently enables the repair of the thoracoabdominal aorta, and this approach is less invasive. However, the long-term durability of this method of endovascular repair remains unknown. Read More

    Sleep Disorders and Their Management in Children With Ehlers-Danlos Syndrome Referred to Sleep Clinics.
    J Clin Sleep Med 2018 Mar 30. Epub 2018 Mar 30.
    Study Objectives: The nature of sleep disorders in children with Ehlers-Danlos syndrome (EDS) is unknown. We aimed to describe the type, the management, and the short-term outcome of sleep disorders in children with EDS referred to sleep clinics.

    Methods: This is a retrospective review of medical records and polysomnography tests of children with EDS younger than 18 years who were referred to the sleep clinic. Read More

    Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.
    Am J Hum Genet 2018 Apr 29;102(4):696-705. Epub 2018 Mar 29.
    Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL 32224, USA; Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL 32224, USA. Electronic address:
    AEBP1 encodes the aortic carboxypeptidase-like protein (ACLP) that associates with collagens in the extracellular matrix (ECM) and has several roles in development, tissue repair, and fibrosis. ACLP is expressed in bone, the vasculature, and dermal tissues and is involved in fibroblast proliferation and mesenchymal stem cell differentiation into collagen-producing cells. Aebp1 mice have abnormal, delayed wound repair correlating with defects in fibroblast proliferation. Read More

    Novel Nonsense Mutation in Initially Presenting as Myopathy: Case Report and Review of the Literature.
    Mol Syndromol 2018 Feb 24;9(2):100-109. Epub 2018 Jan 24.
    Department of Human Genetics, Ruhr-University Bochum, Bochum, Germany.
    Myopathies comprise a heterogeneous group of disorders characterized by variable phenotypes. The increasing use of next-generation sequencing allows identification of the causative genes in a much higher percentage of patients with hereditary muscle disorders and also illustrates a considerable degree of overlap with other clinical entities, including connective tissue disorders. Here, we present a 14-year-old German patient who was initially suspected to suffer from myopathy based on his clinical, radiological, and muscle biopsy findings. Read More

    Multifaced Roles of the αvβ3 Integrin in Ehlers-Danlos and Arterial Tortuosity Syndromes' Dermal Fibroblasts.
    Int J Mol Sci 2018 Mar 26;19(4). Epub 2018 Mar 26.
    Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, 25123 Brescia, Italy.
    The αvβ3 integrin, an endothelial cells' receptor-binding fibronectin (FN) in the extracellular matrix (ECM) of blood vessels, regulates ECM remodeling during migration, invasion, angiogenesis, wound healing and inflammation, and is also involved in the epithelial mesenchymal transition. In vitro-grown human control fibroblasts organize a fibrillar network of FN, which is preferentially bound on the entire cell surface to its canonical α5β1 integrin receptor, whereas the αvβ3 integrin is present only in rare patches in focal contacts. We report on the preferential recruitment of the αvβ3 integrin, due to the lack of FN-ECM and its canonical integrin receptor, in dermal fibroblasts from Ehlers-Danlos syndromes (EDS) and arterial tortuosity syndrome (ATS), which are rare multisystem connective tissue disorders. Read More

    Testicular torsion in a patient with Ehlers-Danlos syndrome.
    BMJ Case Rep 2018 Mar 22;2018. Epub 2018 Mar 22.
    Department of Anaesthetics, Galway Clinic, Galway, Ireland.
    We present a 19-year-old man with a diagnosis of Ehlers-Danlos syndrome (EDS) and a delayed presentation of testicular torsion. EDS is a rare and heterogeneous condition affecting collagen synthesis and presents multiple difficulties in a surgical setting. Management of this case of testicular torsion was complicated by impaired cognition of the patient, difficulty with intubation, a contralateral undescended testis and postoperative bleeding. Read More

    Morphometric analysis of cornea in the Slc39a13/Zip13-knockout mice.
    J Vet Med Sci 2018 Mar 22. Epub 2018 Mar 22.
    Laboratory of Microanatomy, School of Veterinary Medicine, Rakuno Gakuen University.
    Ehlers-Danlos syndrome (EDS) is a group of hereditary diseases caused by mutation of extracellular matrix-related genes. Recently, spondylodysplastic EDS-Zip13 (spEDS-Zip13: OMIM 612350) was recognized as a new EDS type. This current study could reveal various morphometric differences of collagenous population in the proper substance of cornea between the wild type and spEDS-Zip13-knockout (Zip13-KO) mice. Read More

    A Cohort Study Comparing Women with Autism Spectrum Disorder with and without Generalized Joint Hypermobility.
    Behav Sci (Basel) 2018 Mar 17;8(3). Epub 2018 Mar 17.
    Department of Biomedical Sciences, University of South Carolina School of Medicine Greenville, Greenville, SC 29605, USA.
    Reports suggest comorbidity between autism spectrum disorder (ASD) and the connective tissue disorder, Ehlers-Danlos syndrome (EDS). People with EDS and the broader spectrum of Generalized Joint Hypermobility (GJH) often present with immune- and endocrine-mediated conditions. Meanwhile, immune/endocrine dysregulation is a popular theme in autism research. Read More

    Osteogenesis imperfecta type III/Ehlers-Danlos overlap syndrome in a Chinese man.
    Intractable Rare Dis Res 2018 Feb;7(1):37-41
    Key Laboratory for Rare & Uncommon Diseases of Shandong Province, Shandong Medicinal Biotechnology Centre, Shandong Academy of Medical Sciences, Ji'nan, China.
    Osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS) are rare genetic disorders that are typically inherited in an autosomal dominant manner. Few cases of OI/EDS overlap syndrome have been documented. Described here is a 30-year-old Chinese male with OI type III and EDS. Read More

    Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model.
    Matrix Biol 2018 Mar 15. Epub 2018 Mar 15.
    Center for Medical Genetics, Ghent University and University Hospital, De Pintelaan 185, 9000 Ghent, Belgium. Electronic address:
    Type III collagen is a major fibrillar collagen consisting of three identical α(III)-chains that is particularly present in tissues exhibiting elastic properties, such as the skin and the arterial wall. Heterozygous mutations in the COL3A1 gene result in vascular Ehlers-Danlos syndrome (vEDS), a severe, life-threatening disorder, characterized by thin, translucent skin and propensity to arterial, intestinal and uterine rupture. Most human vEDS cases result from a missense mutation substituting a crucial glycine residue in the triple helical domain of the α(III)-chains. Read More

    Gastrointestinal symptoms in postural tachycardia syndrome: a systematic review.
    Clin Auton Res 2018 Mar 16. Epub 2018 Mar 16.
    Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, 506 RRB, 2222 Pierce Ave, Nashville, TN, 37232, USA.
    Gastrointestinal symptoms are among the most common complaints in patients with postural tachycardia syndrome (POTS). In some cases, they dominate the clinical presentation and cause substantial disabilities, including significant weight loss and malnutrition, that require the use of invasive treatment to support caloric intake. Multiple cross-sectional studies have reported a high prevalence of gastrointestinal symptoms in POTS patients with connective tissue diseases, such as Ehlers-Danlos, hypermobile type, and in patients with evidence of autonomic neuropathy. Read More

    Evaluation of a patient with classical Ehlers-Danlos syndrome due to a 9q34 duplication affecting COL5A1.
    Congenit Anom (Kyoto) 2018 Mar 9. Epub 2018 Mar 9.
    Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
    Ehlers-Danlos syndrome classical type is a connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and joint hypermobility. The condition typically results from mutations in COL5A1 or COL5A2 leading to the functional haploinsufficiency. Here, we report of a 24-year-old male with mild intellectual disability, dysmorphic features, and a phenotype consistent with Ehlers-Danlos syndrome classical type. Read More

    Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome.
    Auton Neurosci 2018 Mar 5. Epub 2018 Mar 5.
    Department of Pediatrics, Johns Hopkins University School of Medicine, 200 N. Wolfe St., Room 2077, Baltimore, MD 21287, USA. Electronic address:
    Objective: To review the association between orthostatic intolerance syndromes and both joint hypermobility and Ehlers-Danlos syndrome, and to propose reasons for identifying hereditary connective tissue disorders in those with orthostatic intolerance in the context of both clinical care and research.

    Methods: We searched the published peer-reviewed medical literature for papers reporting an association between joint hypermobility or Ehlers-Danlos syndrome and orthostatic intolerance.

    Results: We identified 10 relevant papers. Read More

    [Severe Mast Cell Activation Syndrome in a 15-year-old patient with an hypermobile Ehlers-Danlos syndrome].
    Rev Med Liege 2018 Feb;73(2):61-64
    Service de Rhumatologie, Université Catholique de Louvain, Bruxelles, Belgique.
    We report the history of a 15-year old patient with a hypermobile Ehlers-Danlos syndrome (hEDS) (his mother, his two brothers and his sister have the same phenotype as him). He suffers mainly from a severe mast cell activation syndrome (MCAS) with an overreaction of the skin to any kind of contact (water of the shower, clothes, bed sheets) but he has also fatigue, headaches, and rash. This impressive rash is exacerbated after the shower and he has the urge to rest («shower's sign»). Read More

    Suspicious scars: physical child abuse vs Ehlers-Danlos syndrome.
    Autops Case Rep 2018 Jan-Mar;8(1):e2018008. Epub 2018 Feb 27.
    National Cancer Institute, Department of Oncosurgery. Maharagama Colombo, Sri Lanka.
    Child abuse is a sensitive topic among many medical practitioners and the diagnosis of this entity requires awareness about conditions which can mimic physical child abuse. Here, the authors present a case of a 13-year-old school non-attendee who was referred due to multiple scars, over areas prone to accidental as well as non-accidental injury, who underwent medicolegal examination due to suspicion of physical child abuse. On further inquiry, it was discovered that she had easy bruising and poor wound healing. Read More

    Multiple fractures in infants who have Ehlers-Danlos/hypermobility syndrome and or vitamin D deficiency: A case series of 72 infants whose parents were accused of child abuse and neglect.
    Dermatoendocrinol 2017 16;9(1):e1279768. Epub 2017 Feb 16.
    Department of Medicine, Section of Endocrinology, Nutrition, and Diabetes, Vitamin D, Skin, and Bone Research Laboratory, Boston University Medical Campus, Boston, MA, USA.
    : To increase the level of awareness that Ehlers-Danlos/hypermobility syndrome (EDS) and vitamin D deficiency are associated with infantile fragility fractures and radiologic features that may be mistakenly reported to be caused by non-accidental trauma due to Child Abuse and Neglect (CAN). : We constructed a case series, the largest to date, of infants with EDS who were vitamin D sufficient, insufficient and deficient and infants without EDS but with documented vitamin D deficiency and radiologic evidence of rickets who presented with multiple fractures originally diagnosed as being non-accidental and caused by child abuse. These infants were referred to the outpatient Bone Health Care Clinic at Boston University Medical Campus over a 6-year (2010-2015) period. Read More

    Testing patterns for genetically triggered aortic and arterial aneurysms and dissections at an academic center.
    J Vasc Surg 2018 Mar 3. Epub 2018 Mar 3.
    Division of Vascular Surgery, Department of Surgery, University of Washington, Seattle, Wash. Electronic address:
    Objective: The contemporary practice of testing for genetically triggered aortic and arterial aneurysms and dissections is not well described. This study aimed to describe this practice at a tertiary care academic center and to ascertain the yield of testing in establishing the diagnosis in patients referred on the basis of clinical suspicion.

    Methods: This is a retrospective cohort study of patients referred for vascular genetic testing at an academic medical center between 2010 and 2015. Read More

    The Upper Limb Hypermobility Assessment Tool: A novel validated measure of adult joint mobility.
    Musculoskelet Sci Pract 2018 Feb 22;35:38-45. Epub 2018 Feb 22.
    The University of Sydney, Discipline of Biomedical Science, Sydney Medical School, 75 East St, Lidcombe, NSW 2141, Australia; The Hypermobility and Performance Laboratory, Bosch Institute, The University of Sydney, 75 East St, Lidcombe, NSW 2141, Australia. Electronic address:
    Background: Existing measures of generalized joint hypermobility do not include commonly affected upper limb joints.

    Objective: To evaluate the reliability of a novel clinically-applicable measure of upper limb joint mobility, its ability to discriminate between varying extents of hypermobility, identify generalized joint hypermobility, and to establish a cut-point for hypermobility classification.

    Design: Validation of a diagnostic tool. Read More

    Low- and high-anxious hypermobile Ehlers-Danlos syndrome patients: comparison of psychosocial and health variables.
    Rheumatol Int 2018 May 1;38(5):871-878. Epub 2018 Mar 1.
    Department of Physical Medicine and Rehabilitation, Hôtel-Dieu Hospital, Paris, France.
    Despite the frequent co-ocurrence of hypermobile Ehler-Danlos syndrome (hEDS) and pathological anxiety, little is known about the psychosocial and health implications of such comorbidity. Our aim was to explore the association between high levels of anxiety and psychosocial (catastrophizing, kinesiophobia, somatosensory amplification, social support and functioning), health (pain, fatigue, BMI, tobacco/alcohol use, depression, diagnosis delay, general health), and sociodemographic factors in people with hEDS. In this cross-sectional study, 80 hEDS patients were divided into two groups according to self-reported anxiety levels: low and high. Read More

    Dendritic Cell Migration to Skin-Draining Lymph Nodes Is Controlled by Dermatan Sulfate and Determines Adaptive Immunity Magnitude.
    Front Immunol 2018 8;9:206. Epub 2018 Feb 8.
    Department of Molecular Cell Biology and Immunology, VU University Medical Center, Cancer Center Amsterdam, Amsterdam, Netherlands.
    For full activation of naïve adaptive lymphocytes in skin-draining lymph nodes (LNs), presentation of peptide:MHC complexes by LN-resident and skin-derived dendritic cells (DCs) that encountered antigens (Ags) is an absolute prerequisite. To get to the nearest draining LN upon intradermal immunization, DCs need to migrate from the infection site to the afferent lymphatics, which can only be reached by traversing a collagen-dense network located in the dermis of the skin through the activity of proteolytic enzymes. Here, we show that mice with altered collagen fibrillogenesis resulting in thicker collagen fibers in the skin display a reduced DC migration to the draining LN upon immune challenge. Read More

    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 of Offers 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 fly has 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

    MULTIMODAL IMAGING OF ANGIOID STREAKS ASSOCIATED WITH TURNER SYNDROME.
    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 endoplasmic reticulum 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, United Arab Emirates.
    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 May 23;28(5):668-674. 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

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