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Joint hypermobility

Jonathan J Lyons, Xiaomin Yu, Jason D Hughes, Quang T Le, Ali Jamil, Yun Bai, Nancy Ho, Ming Zhao, Yihui Liu, Michael P O'Connell, Neil N Trivedi, Celeste Nelson, Thomas DiMaggio, Nina Jones, Helen Matthews, Katie L Lewis, Andrew J Oler, Ryan J Carlson, Peter D Arkwright, Celine Hong, Sherene Agama, Todd M Wilson, Sofie Tucker, Yu Zhang, Joshua J McElwee, Maryland Pao, Sarah C Glover, Marc E Rothenberg, Robert J Hohman, Kelly D Stone, George H Caughey, Theo Heller, Dean D Metcalfe, Leslie G Biesecker, Lawrence B Schwartz, Joshua D Milner
Elevated basal serum tryptase levels are present in 4-6% of the general population, but the cause and relevance of such increases are unknown. Previously, we described subjects with dominantly inherited elevated basal serum tryptase levels associated with multisystem complaints including cutaneous flushing and pruritus, dysautonomia, functional gastrointestinal symptoms, chronic pain, and connective tissue abnormalities, including joint hypermobility. Here we report the identification of germline duplications and triplications in the TPSAB1 gene encoding α-tryptase that segregate with inherited increases in basal serum tryptase levels in 35 families presenting with associated multisystem complaints...
October 17, 2016: Nature Genetics
Ines Kapferer-Seebacher, Melanie Pepin, Roland Werner, Timothy J Aitman, Ann Nordgren, Heribert Stoiber, Nicole Thielens, Christine Gaboriaud, Albert Amberger, Anna Schossig, Robert Gruber, Cecilia Giunta, Michael Bamshad, Erik Björck, Christina Chen, David Chitayat, Michael Dorschner, Marcus Schmitt-Egenolf, Christopher J Hale, David Hanna, Hans Christian Hennies, Irene Heiss-Kisielewsky, Anna Lindstrand, Pernilla Lundberg, Anna L Mitchell, Deborah A Nickerson, Eyal Reinstein, Marianne Rohrbach, Nikolaus Romani, Matthias Schmuth, Rachel Silver, Fulya Taylan, Anthony Vandersteen, Jana Vandrovcova, Ruwan Weerakkody, Margaret Yang, F Michael Pope, Peter H Byers, Johannes Zschocke
Periodontal Ehlers-Danlos syndrome (pEDS) is an autosomal-dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth, joint hypermobility, and mild skin findings. A locus was mapped to an approximately 5.8 Mb region at 12p13.1 but no candidate gene was identified. In an international consortium we recruited 19 independent families comprising 107 individuals with pEDS to identify the locus, characterize the clinical details in those with defined genetic causes, and try to understand the physiological basis of the condition...
September 27, 2016: American Journal of Human Genetics
Ana Paula Silva, Daniel das Virgens Chagas, Maria Lúcia Cavaliere, Sérgio Pinto, José Silvio de Oliveira Barbosa, Luiz Alberto Batista
OBJECTIVE: To analyse the subtalar eversion range of motion during walking in women with fibromyalgia. METHOD: Twenty women diagnosed with fibromyalgia were directed to walk barefoot at comfortable and self-paced speed on a 7m walkway. Subtalar eversion range of motion was measured using the difference between the maximum and minimum values of subtalar eversion in stance phase. A range of motion between 4°-6° was considered as reference values for subtalar eversion during gait...
September 28, 2016: Foot
Heléne E K Sundelin, Olof Stephansson, Kari Johansson, Jonas F Ludvigsson
INTRODUCTION: An increased risk of preterm birth in women with Joint Hypermobility Syndrome (JHS) or Ehlers-Danlos Syndrome (EDS) is suspected. MATERIAL AND METHODS: In this nationwide cohort study from 1997 through 2011, women with either JHS or EDS or both disorders were identified through the Swedish Patient Register, and linked to the Medical Birth Register. Thereby 314 singleton births to women with JHS/EDS before delivery were identified. These births were compared with 1,247,864 singleton births to women without a diagnosis of JHS/EDS...
October 14, 2016: Acta Obstetricia et Gynecologica Scandinavica
Loukas Koyonos, Matthew J Kraeutler, Daniel F O'Brien, Michael G Ciccotti, Christopher C Dodson
OBJECTIVES: Generalized joint laxity has been proposed as a significant risk factor for failure after arthroscopic anterior shoulder stabilization. The purpose of this study was to prospectively measure joint mobility in patients undergoing arthroscopic anterior shoulder stabilization and to determine whether hypermobility is a risk factor for worse outcomes compared with patients having normal joint mobility. METHODS: Patients with anterior shoulder instability were prospectively enrolled...
October 13, 2016: Physician and Sportsmedicine
Kim Robin Spekreijse, Guus Maarten Vermeulen, Thybout M Moojen, Harm P Slijper, Steven E R Hovius, Ruud W Selles, Reinier Feitz
BACKGROUND: Hypermobility of the first carpometacarpal joint is mostly surgically treated with a volar approached stabilization by Eaton, but recent studies indicate the importance of the dorsoradial and intermetacarpal ligaments (DRL and IML) for carpometacarpal joint stability. The aim of this study was to compare a dorsal and volar technique for primary carpometacarpal hypermobility regarding pain and functional outcome. METHODS: Patients with non-degenerative, painful carpometacarpal hypermobility were included and were randomly assigned to either the volar technique using the FCR, or a dorsal technique using the ECRL...
2016: European Journal of Plastic Surgery
Mariana Kekis, Sayaka Hashimoto, Carol Deeg, Inga Calloway, Aimee McKinney, Christine Shuss, Scott Hickey, Caroline Astbury
Constitutional mosaicism for trisomy 3 is extremely rare, with only a few postnatally diagnosed cases reported in the literature. We report a case of constitutional trisomy 3 mosaicism in a 16-year-old female, who presented with chronic joint pain, easy bruising, joint hypermobility and dysmorphic features, including long, thin facies, over-folded dysplastic ears, and Pierre-Robin sequence (PRS) with cleft palate. The patient was small at birth, had cleft palate repair, developed chronic joint pain at age 12, and has a history of mild leukopenia and mild thrombocytopenia...
October 4, 2016: European Journal of Medical Genetics
Bente Rona Jensen, Jesper Sandfeld, Pia Sandfeld Melcher, Katrine Lyders Johansen, Peter Hendriksen, Birgit Juul-Kristensen
BACKGROUND: Generalized Joint Hypermobility (GJH) is associated with increased risk of musculoskeletal joint pain. We investigated neuromuscular performance and muscle activation strategy. METHODS: Girls with GJH and non-GJH (NGJH) performed isometric knee flexions (90°,110°,130°), and extensions (90°) at 20 % Maximum Voluntary Contraction, and explosive isometric knee flexions while sitting. EMG was recorded from knee flexor and extensor muscles. RESULTS: Early rate of torque development was 53 % faster for GJH...
October 3, 2016: BMC Musculoskeletal Disorders
Tony Chung Tung Lo, Stephen Tung Yeung, Sujin Lee, Kira Skavinski, Solomon Liao
OBJECTIVE: Ehlers-Danlos syndrome frequently causes acute and chronic pain because of joint subluxations and dislocations secondary to hypermobility. Current treatments for pain related to Ehlers-Danlos syndrome and central pain syndrome are inadequate. This case report discusses the therapeutic use of ketamine intravenous infusion as an alternative. CASE REPORT: A 27-year-old Caucasian female with a history of Ehlers-Danlos syndrome and spinal cord ischemic myelopathy resulting in central pain syndrome, presented with severe generalized body pain refractory to multiple pharmacological interventions...
2016: Journal of Pain Research
S M C George, A Vandersteen, E Nigar, D J P Ferguson, E J Topham, F M Pope
Ehlers-Danlos syndrome (EDS) encompasses a genetically and clinically heterogeneous group of connective tissue disorders, characterized by joint hypermobility, skin hyperextensibility and tissue fragility. It is a rare condition, and inheritance is either autosomal dominant or recessive. Previously grouped into 11 different subtypes, with increasing knowledge of the underlying molecular defects, it was reclassified in 1997 into 6 major groups, with type VIII excluded from this classification. Type VIII EDS is a very rare subtype, characterized by severe, early-onset periodontitis, skin fragility and abnormal scarring...
October 2016: Clinical and Experimental Dermatology
Janet A Deane, Alison H McGregor
OBJECTIVES: Despite lumbar degenerative disc disease (LDDD) being significantly associated with non-specific low back pain and effective treatment remaining elusive, specialist multidisciplinary clinical stakeholder opinion remains unexplored. The present study examines the views of such experts. DESIGN: A reliable and valid electronic survey was designed to establish trends using theoretical constructs relating to current assessment and management practices. Clinicians from the Society of Back Pain Research (SBPR) UK were invited to take part...
September 15, 2016: BMJ Open
Josephina A N Meester, Geert Vandeweyer, Isabel Pintelon, Martin Lammens, Lana Van Hoorick, Simon De Belder, Kathryn Waitzman, Luciana Young, Larry W Markham, Julie Vogt, Julie Richer, Luc M Beauchesne, Sheila Unger, Andrea Superti-Furga, Milan Prsa, Rami Dhillon, Edwin Reyniers, Harry C Dietz, Wim Wuyts, Geert Mortier, Aline Verstraeten, Lut Van Laer, Bart L Loeys
PURPOSE: Thoracic aortic aneurysm and dissection (TAAD) is typically inherited in an autosomal dominant manner, but rare X-linked families have been described. So far, the only known X-linked gene is FLNA, which is associated with the periventricular nodular heterotopia type of Ehlers-Danlos syndrome. However, mutations in this gene explain only a small number of X-linked TAAD families. METHODS: We performed targeted resequencing of 368 candidate genes in a cohort of 11 molecularly unexplained Marfan probands...
September 15, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Serwet Demirdas, Eelco Dulfer, Leema Robert, Marlies Kempers, Daphne van Beek, Dimitra Micha, Baziel G van Engelen, Ben Hamel, Joost Schalkwijk, Bart Loeys, Alessandra Maugeri, Nicol C Voermans
The tenascin-X (TNX) deficient type Ehlers-Danlos syndrome (EDS) is similar to the classical type of Ehlers-Danlos syndrome. Due to the limited awareness among geneticists and the challenge of the molecular analysis of the TNXB gene, the TNX-deficient type EDS is likely to be under diagnosed. We therefore performed an observational, cross-sectional study. History and physical examination were performed. Results of serum TNX measurements were collected and mutation analysis was performed by a combination of NGS, Sanger sequencing and MLPA...
September 1, 2016: Clinical Genetics
S Palmer, F Cramp, R Lewis, G Gould, E M Clark
OBJECTIVES: Stage 1 - to identify the impact of joint hypermobility syndrome (JHS) on adults; Stage 2 - to develop a questionnaire to assess the impact of JHS; and Stage 3 - to undertake item reduction and establish the questionnaire's concurrent validity. DESIGN: A mixed methods study employing qualitative focus groups and interviews (Stage 1); a working group of patients, clinicians and researchers, and 'think aloud' interviews (Stage 2); and quantitative analysis of questionnaire responses (Stage 3)...
May 4, 2016: Physiotherapy
Anna Huguet, Michelle E Tougas, Jill Hayden, Patrick J McGrath, Jennifer N Stinson, Christine T Chambers
A variety of factors may be involved in the development and course of musculoskeletal (MSK) pain. We undertook a systematic review with meta-analysis to synthesize and evaluate the quality of evidence about childhood and adolescent factors associated with onset and persistence of MSK pain, and its related disability.Studies were identified from searches of electronic databases (PubMed, EMBASE, PsycINFO, CINAHL, and Web of Science), references of included studies, and the Pediatric Pain mail list. Two independent reviewers assessed study inclusion, completed data extraction and evaluated the quality of evidence using a modified GRADE framework...
August 10, 2016: Pain
Gabriella R Goshtigian, Brian T Swanson
BACKGROUND: Despite the multidirectional quality of human movement, common measurement procedures used in physical therapy examination are often uni-planar and lack the ability to assess functional complexities involved in daily activities. Currently, there is no widely accepted, validated standard to assess movement quality. The Selective Functional Movement Assessment (SFMA) is one possible system to objectively assess complex functional movements. The purpose of this case report is to illustrate the application of the SFMA as a guide to the examination, evaluation, and management of a patient with non-specific low back pain (LBP)...
August 2016: International Journal of Sports Physical Therapy
D Diep, V Fau, S Wdowik, B Bienvenu, H Bénateau, A Veyssière
INTRODUCTION: The Ehlers-Danlos syndrome, hypermobility type (EDS-HT) is a rare genetic disease. Diagnosis is based on a combination of clinical criteria described in the classification of Villefranche. Diagnosis is difficult to make because of the lack of specific clinical signs and the absence of genetic testing. The EDS-TH manifests itself manly by musculoskeletal pain and joint hypermobility. Temporomandibular disorders (TMD) are also reported. Our aim was to objectify the presence and to qualify the type of TMD associated with the EDS-HT in order to propose an additional diagnostic argument...
September 2016: Revue de Stomatologie, de Chirurgie Maxillo-faciale et de Chirurgie Orale
Nicola Chiarelli, Giulia Carini, Nicoletta Zoppi, Chiara Dordoni, Marco Ritelli, Marina Venturini, Marco Castori, Marina Colombi
Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT), is likely the most common systemic heritable connective tissue disorder, and is mostly recognized by generalized joint hypermobility, joint instability complications, minor skin changes and a wide range of satellite features. JHS/EDS-HT is considered an autosomal dominant trait but is still without a defined molecular basis. The absence of (a) causative gene(s) for JHS/EDS-HT is likely attributable to marked genetic heterogeneity and/or interaction of multiple loci...
2016: PloS One
Gisela Chelimsky, Katja Kovacic, Pippa Simpson, Melodee Nugent, Donald Basel, Julie Banda, Thomas Chelimsky
OBJECTIVE: To determine if children with benign joint hypermobility (BJH) syndrome and chronic functional pain disorders have more autonomic dysfunction. STUDY DESIGN: Retrospective chart review study of pediatric patients seen in the pediatric neurogastroenterology and autonomic clinic who underwent autonomic testing and had either a Beighton score of ≥6 and met Brighton criteria for BJH (with BJH) or a score of ≤2 (no BJH). RESULTS: Twenty-one female subjects (10 without BJH) met inclusion criteria; 64% of BJH had diagnosis confirmed by genetics consultation...
October 2016: Journal of Pediatrics
Gülcan Gürer, Gulnur Tasci Bozbas, Tiraje Tuncer, Ayse Iyiyapici Unubol, Ulku Gurbuz Ucar, Ozge Illeez Memetoglu
AIM: Osteoarthritis (OA) of the knee is one of the major causes of joint dysfunction and physically disabling conditions in the older population. The risk factors for the development of knee OA are very diverse. We aimed to determine the frequency of joint hypermobility in patients with knee OA. METHODS: Five hundred and three patients (402 female and 101 male) with bilateral knee OA were enrolled in five different clinics from three regions of Turkey. In this study, joint hypermobility was evaluated in the participants by using the Beighton scoring system and a Beighton score of at least 4 was considered as joint hypermobility...
July 27, 2016: International Journal of Rheumatic Diseases
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