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Joint hypermobility syndrome

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https://www.readbyqxmd.com/read/29917237/the-extracellular-matrix-glycoprotein-tenascin-x-regulates-peripheral-sensory-and-motor-neurones
#1
Rubina Aktar, Madusha Peiris, Asma Fikree, Vincent Cibert-Goton, Maxim Walmsley, Iain R Tough, Paulo Watanabe, Eduardo J A Araujo, Sahar D Mohammed, Jean-Marie Delalande, David C Bulmer, S Mark Scott, Helen M Cox, Nicol C Voermans, Qasim Aziz, L Ashley Blackshaw
The extracellular matrix (ECM) is not only an integral structural molecule, but is also critical for a wide range of cellular functions. The glycoprotein tenascin-X (TNX) predominates in the ECM of tissues like skin and regulates tissue structure through anti-adhesive interactions with collagen. Monogenic TNX deficiency causes painful joint hypermobility and skin hyperelasticity, symptoms characteristic of hypermobility-Ehlers Danlos Syndrome (hEDS). hEDS patients also report consistently increased visceral pain and gastrointestinal (GI) dysfunction...
June 19, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29915965/clinical-relevance-of-joint-hypermobility-and-its-impact-on-musculoskeletal-pain-and-bone-mass
#2
REVIEW
Vito Guarnieri, Marco Castori
PURPOSE OF REVIEW: To summarize current evidence on the links between joint hypermobility (JH) and Ehlers-Danlos syndromes (EDS), with pain and reduced bone mass; to illustrate an updated approach to JH and EDS. RECENT FINDINGS: In 2017, a novel classification for EDS and JH has been published. Increasing data demonstrate that pain is a major disability determinator in JH and EDS. Recent findings confirm a complex pathogenesis for pain in JH and EDS and suggest a potential role for joint instability, central sensitization and small fiber neuropathy...
June 18, 2018: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/29915767/a-novel-surgical-correction-and-innovative-splint-for-swan-neck-deformity-in-hypermobility-syndrome
#3
Karthik Vishwanathan, Deepak Ganjiwale
Splinting is a great domain of occupational therapy profession. Making a splint for the patient would depend on the need or requirement of the problems and deformities. Swan neck deformity is an uncommon condition, and it can be seen in rheumatoid arthritis, cerebral palsy, and after trauma. Conservative treatment of the swan neck deformity is available by different static splints only. There are very few reports of surgical correction of swan-neck deformity in benign hypermobility syndrome. This case report describes the result of novel surgical intervention and an innovative hand splint in a 20-year-old female with a history of cardiovascular stroke with no residual neurological deficit...
January 2018: Journal of Family Medicine and Primary Care
https://www.readbyqxmd.com/read/29900417/the-tatton-brown-rahman-syndrome-a-clinical-study-of-55-individuals-with-de-novo-constitutive-dnmt3a-variants
#4
Katrina Tatton-Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Lise Aksglaede, Diana Baralle, Daniela Barge-Schaapveld, Moira Blyth, Mieke Bouma, Jeroen Breckpot, Beau Crabb, Tabib Dabir, Valerie Cormier-Daire, Christine Fauth, Richard Fisher, Blanca Gener, David Goudie, Tessa Homfray, Matthew Hunter, Agnete Jorgensen, Sarina G Kant, Cathy Kirally-Borri, David Koolen, Ajith Kumar, Anatalia Labilloy, Melissa Lees, Carlo Marcelis, Catherine Mercer, Cyril Mignot, Kathryn Miller, Katherine Neas, Ruth Newbury-Ecob, Daniela T Pilz, Renata Posmyk, Carlos Prada, Keri Ramsey, Linda M Randolph, Angelo Selicorni, Deborah Shears, Mohnish Suri, I Karen Temple, Peter Turnpenny, Lionel Val Maldergem, Vinod Varghese, Hermine E Veenstra-Knol, Naomi Yachelevich, Laura Yates, Nazneen Rahman
Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive heterozygous DNMT3A variants. Here we have undertaken a detailed clinical study of 55 individuals with de novo DNMT3A variants, including the 13 previously reported individuals. An intellectual disability and overgrowth were reported in >80% of individuals with TBRS and were designated major clinical associations...
2018: Wellcome Open Research
https://www.readbyqxmd.com/read/29891041/spectrum-of-gastrointestinal-manifestations-in-joint-hypermobility-syndromes
#5
REVIEW
Gehan Botrus, Omar Baker, Erica Borrego, Kyari Sumayin Ngamdu, Mohamed Teleb, Jose L Gonzales Martinez, Gerardo Maldonado, Ahmed M Hussein, Richard McCallum
Joint hypermobility is a common, primarily benign finding in the general population. However, in a subset of individuals joint hypermobility causes a range of clinical problems mainly affecting the musculoskeletal system and, to a lesser extent, extra-articular disorders. Joint hypermobility often appears as a familial trait and is shared by several inherited connective tissue disorders, including the hypermobility subtype of Ehlers-Danlos syndrome (hEDS) and benign joint hypermobility syndrome (BJHS/JHS). Although joint hypermobility has primarily been thought of as a rheumatological disorder, increasing evidence shows significant associations between both hEDS and BJHS with specific extra-articular disorders...
June 2018: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/29864098/activity-and-exercise-intolerance-after-concussion-identification-and-management-of-postural-orthostatic-tachycardia-syndrome
#6
Nicole A Miranda, Jeffrey R Boris, Kristen M Kouvel, Lauren Stiles
BACKGROUND AND PURPOSE: Postural orthostatic tachycardia syndrome (POTS) is increasingly recognized as a complication affecting recovery from concussion. Individuals with POTS demonstrate refractory dizziness, lightheadedness, cognitive dysfunction, fatigue, headache, chronic pain, nausea and gastrointestinal dysmotility, activity and exercise intolerance, syncope, and tachycardia. Subtypes of POTS may include hypovolemia, hyperadrenergic states, autonomic neuropathy, and underlying autoimmunity, which may variably impact response to rehabilitation in varying ways...
June 1, 2018: Journal of Neurologic Physical Therapy: JNPT
https://www.readbyqxmd.com/read/29851695/hip-instability-in-patients-with-down-syndrome
#7
Daniel Maranho, Kathryn Fuchs, Young-Jo Kim, Eduardo N Novais
The incidence of hip instability in children with Down syndrome is 1% to 7%. The natural history is often progressive, with the typical onset of hypermobility of the hip evolving to habitual dislocation, persistent subluxation, and fixed dislocation, and eventually leading to the loss of independent mobility. Treatment focuses on stabilizing the hip joint and depends on the patient's age and the severity of the disease. Typically, surgical intervention is recommended for the treatment of patients with habitual dislocation, subluxation, and complete dislocation of the hip...
May 30, 2018: Journal of the American Academy of Orthopaedic Surgeons
https://www.readbyqxmd.com/read/29793123/the-beighton-score-as-a-predictor-of-brighton-criteria-in-sport-and-dance
#8
Ross Armstrong, Dr Matt Greig
OBJECTIVES: To determine the efficacy of using the Beighton joint hypermobility score as a predictor of Brighton criteria components, considering the influence of gender and sports participation. DESIGN: Cross sectional study design. SETTING: A University. PARTICIPANTS: Sixty-five female rugby players, 38 male rugby players, 61 netball players, 42 female dancers, 40 male controls and 40 female controls. MAIN OUTCOME MEASURES: The Beighton score was assessed using the Beighton and Horan Joint Mobility Index...
April 20, 2018: Physical Therapy in Sport
https://www.readbyqxmd.com/read/29734195/tenascin-x-congenital-adrenal-hyperplasia-and-the-cah-x-syndrome
#9
Walter L Miller, Deborah P Merke
Mutations of the CYP21A2 gene encoding adrenal 21-hydroxylase cause congenital adrenal hyperplasia (CAH). The CYP21A2 gene is partially overlapped by the TNXB gene, which encodes an extracellular matrix protein called Tenascin-X (TNX). Mutations affecting both alleles of TNXB cause a severe, autosomal recessive form of Ehlers-Danlos syndrome (EDS). Rarely, patients with severe, salt-wasting CAH have deletions of CYP21A2 that extend into TNXB, resulting in a "contiguous gene syndrome" consisting of CAH and EDS...
May 7, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29709596/vascular-aspects-of-the-ehlers-danlos-syndromes
#10
REVIEW
Fransiska Malfait
The Ehlers-Danlos Syndromes comprise a heterogeneous group of rare monogenic conditions that are characterized by joint hypermobility, skin and vascular fragility and generalized connective tissue friability. The latest classification recognizes 13 clinical subtypes, with mutations identified in 19 different genes. Besides defects in fibrillar collagens (collagen types I, III and V), their modifying enzymes (ADAMTS-2, lysylhydroxylase 1 (LH1)), and molecules involved in collagen folding (FKBP22), defects have recently been identified in other constituents of the extracellular matrix (e...
April 27, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29705015/evaluation-of-postural-tachycardia-syndrome-pots
#11
REVIEW
Brent P Goodman
The diagnostic evaluation of a patient with suspected postural tachycardia syndrome (POTS) requires a thoughtful diagnostic approach utilizing a careful clinical history and examination, laboratory, and autonomic testing. This article outlines the importance of a thorough history in identifying mechanism of symptom onset, clinical features, associated clinical conditions or disorders, and factors that may result in symptom exacerbation. The clinical examination involves an assessment of pupillary responses, an evaluation for sudomotor and vasomotor signs, and an assessment for joint hypermobility...
April 22, 2018: Autonomic Neuroscience: Basic & Clinical
https://www.readbyqxmd.com/read/29703000/rheumatological-presentation-of-bartonella-koehlerae-and-bartonella-henselae-bacteremias-a-case-report
#12
Bobak Robert Mozayeni, Ricardo Guillermo Maggi, Julie Meredith Bradley, Edward Bealmear Breitschwerdt
INTRODUCTION: Systemic Bartonella spp. infections are being increasingly reported in association with complex medical presentations. Individuals with frequent arthropod exposures or animal contact appear to be at risk for acquiring long standing infections with Bartonella spp. CASE REPORT: This case report describes infections with Bartonella koehlerae and Bartonella henselae in a female veterinarian whose symptoms were predominantly rheumatologic in nature. Infection was confirmed by serology, polymerase chain reaction (PCR), enrichment blood culture, and DNA sequencing of amplified B koehlerae and B henselae DNA...
April 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29700810/refining-the-phenotype-associated-with-biallelic-dnajc21-mutations
#13
G D'Amours, F Lopes, J Gauthier, V Saillour, C Nassif, R Wynn, N Alos, T Leblanc, Y Capri, S Nizard, E Lemyre, J L Michaud, V-A Pelletier, Y D Pastore, J-F Soucy
Inherited bone marrow failure syndromes (IBMFS) are caused by mutations in genes involved in genomic stability. Although they may be recognized by the association of typical clinical features, variable penetrance and expressivity are common, and clinical diagnosis is often challenging. DNAJC21, which is involved in ribosome biogenesis, was recently linked to bone marrow failure. However, the specific phenotype and natural history remain to be defined. We correlate molecular data, phenotype, and clinical history of 5 unreported affected children and all individuals reported in the literature...
April 26, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29687534/higher-prevalence-of-joint-hypermobility-in-constipation-predominant-irritable-bowel-syndrome
#14
A Zweig, V Schindler, A S Becker, A van Maren, D Pohl
BACKGROUND: Joint hypermobility syndrome (JHS) is characterized by excessive connective tissue laxity manifest as joint hypermobility (JH) together with musculoskeletal symptoms. Previous studies have shown an association between JH/JHS and gastrointestinal symptoms, including irritable bowel syndrome (IBS), although its association with specific IBS subtypes is incompletely understood. We aimed to determine the prevalence of JH according to the subtypes of IBS, in particular IBS-C and IBS-D...
April 23, 2018: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/29666082/knee-joint-instability-after-total-knee-replacement-in-a-patient-with-ehlers-danlos-syndrome-the-role-of-insert-changes-as-practical-solution
#15
Ajmal Farid, Stefan Beekhuizen, Joris van der Lugt, Marijn Rutgers
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. Revision of the insert resolved the issue in her left knee; however, the right TKR required two insert exchanges and unfortunately instability persisted. Therefore, a revision to a constrained prosthesis was performed...
April 17, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29623400/biomechanical-properties-of-the-patellar-tendon-in-children-with-heritable-connective-tissue-disorders
#16
Jacob K Jensen, Rie H Nygaard, Rene B Svensson, Hanne D Hove, S Peter Magnusson, Michael Kjær, Christian Couppé
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)...
April 5, 2018: European Journal of Applied Physiology
https://www.readbyqxmd.com/read/29562607/a-cohort-study-comparing-women-with-autism-spectrum-disorder-with-and-without-generalized-joint-hypermobility
#17
Emily L Casanova, Julia L Sharp, Stephen M Edelson, Desmond P Kelly, Manuel F Casanova
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. We surveyed a group of ASD women with/without GJH to determine differences in immune/endocrine exophenotypes. ASD women 25 years or older were invited to participate in an online survey...
March 17, 2018: Behavioral Sciences
https://www.readbyqxmd.com/read/29520887/evaluation-of-a-patient-with-classical-ehlers-danlos-syndrome-due-to-a-9q34-duplication-affecting-col5a1
#18
Yukiko Kuroda, Ikuko Ohashi, Takuya Naruto, Kazumi Ida, Yumi Enomoto, Toshiyuki Saito, Jun-Ichi Nagai, Kenji Kurosawa
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. A copy number variant-calling algorithm from panel sequencing data identified the deletions exons 2-11 and duplications of exons 12-67 within COL5A1...
March 9, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29519641/postural-tachycardia-syndrome-and-other-forms-of-orthostatic-intolerance-in-ehlers-danlos-syndrome
#19
REVIEW
Maria Roma, Colleen L Marden, Inge De Wandele, Clair A Francomano, Peter C Rowe
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...
March 5, 2018: Autonomic Neuroscience: Basic & Clinical
https://www.readbyqxmd.com/read/29502568/col1a1-mutations-presenting-as-descending-perineum-syndrome-in-a-young-patient-with-hypermobility-syndrome
#20
Priya Vijayvargiya, Michael Camilleri, Robert R Cima
A 22-year-old woman presented with 12 years of progressive constipation; she had increased joint flexibility, hyperextensible skin, and excessive perineal descent on examination. Radiological studies confirmed evidence of rectal evacuation disorder due to descending perineum syndrome, enterocele, and rectocele. In a wide genetic screen (∼611,000 single nucleotide polymorphisms), 4 variations were identified in COL1A1 gene ([rs72656352, Chr17: 50,185,535-50,185,539, deletion], [rs72654794, Chr17: 50,188,575, deletion], [rs72667023, Chr17: 50,198,170, deletion], [rs67828806, Chr17: 50,198,177 G→C])...
March 2018: Mayo Clinic Proceedings
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