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Joint hypermobility

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https://www.readbyqxmd.com/read/29775909/sensorimotor-control-and-neuromuscular-activity-of-the-shoulder-in-adolescent-competitive-swimmers-with-generalized-joint-hypermobility
#1
Thomas Frydendal, Henrik Eshøj, Behnam Liaghat, Pascal Edouard, Karen Søgaard, Birgit Juul-Kristensen
INTRODUCTION: Shoulder pain is highly prevalent in competitive swimmers, and generalized joint hypermobility (GJH) is considered a risk factor. Sensorimotor control deficiencies and altered neuromuscular activation of the shoulder may represent underlying factors. RESEARCH QUESTION: To investigate whether competitive swimmers with GJH including shoulder hypermobility (GJHS) differ in shoulder sensorimotor control and muscle activity from those without GJH and no shoulder hypermobility (NGJH)...
May 5, 2018: Gait & Posture
https://www.readbyqxmd.com/read/29734195/tenascin-x-congenital-adrenal-hyperplasia-and-the-cah-x-syndrome
#2
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/29729801/hallux-valgus-deformity-and-treatment-a-three-dimensional-approach
#3
REVIEW
Jesse Forbes Doty, Wallace Taylor Harris
The cause and effect between hallux valgus and first ray hypermobility continues to be debated. Understanding the anatomic and radiographic examination of the first metatarsocuneiform (MTC) joint is critical to choosing an appropriate treatment algorithm for the surgical management of hallux valgus deformity. Some studies suggest hypermobility can be corrected without fusing the first MTC joint. Some think hypermobility arises secondarily from malalignment of the soft tissue constraints as the hallux valgus deformity progresses...
June 2018: Foot and Ankle Clinics
https://www.readbyqxmd.com/read/29709596/vascular-aspects-of-the-ehlers-danlos-syndromes
#4
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
#5
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
#6
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
#7
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 five 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
#8
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/29685563/changes-in-rearfoot-alignment-in-chronic-plantar-heel-pain
#9
Kadir Ilker Yildiz, Abdulhamit Misir, Turan Bilge Kizkapan, Mustafa Cukurlu
Plantar heel pain is a common disabling condition in adults. Biomechanical factors are important in the development of plantar heel pain. Quantitative changes in rearfoot alignment in patients with plantar heel pain have not been previously investigated. From April 2016 to March 2017, 100 patients with plantar heel pain and 100 healthy individuals were recruited. The foot posture index was used for the measurement of foot alignment. The generalized joint hypermobility condition was assessed using the Beighton scale...
May 2018: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/29669593/association-between-general-joint-hypermobility-and-knee-hip-and-lumbar-spine-osteoarthritis-by-race-a-cross-sectional-study
#10
Portia P E Flowers, Rebecca J Cleveland, Todd A Schwartz, Amanda E Nelson, Virginia B Kraus, Howard J Hillstrom, Adam P Goode, Marian T Hannan, Jordan B Renner, Joanne M Jordan, Yvonne M Golightly
BACKGROUND: Osteoarthritis (OA) prevalence differs by race. General joint hypermobility (GJH) may be associated with OA, but differences by race are not known. This community-based study examined the frequency of GJH and its relationship with knee, hip, and lumbar spine OA by race (African American vs. Caucasian). METHODS: Data were from the Johnston County OA project, collected 2003-2010. GJH was defined as Beighton score ≥4. OA symptoms were defined as the presence of pain, aching, or stiffness on most days separately at the knee, hip, and lower back...
April 18, 2018: Arthritis Research & Therapy
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
#11
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/29655411/functional-disorders-of-the-temporomandibular-joints-internal-derangement-of-the-temporomandibular-joint
#12
REVIEW
Chih-Ling Chang, Ding-Han Wang, Mu-Chen Yang, Wun-Eng Hsu, Ming-Lun Hsu
Temporomandibular joint (TMJ) is one of the most complex joints of the human body. Due to its unique movement, in terms of combination of rotation and translator movement, disc of the joint plays an important role to maintain its normal function. In order to sustain the normal function of the TMJ, disc must be kept in proper position as well as maintain normal shape in all circumstances. Once the disc is not any more in its normal position during function of the joint, disturbance of the joint can be occurred which will lead to subsequent distortion of the disc...
April 2018: Kaohsiung Journal of Medical Sciences
https://www.readbyqxmd.com/read/29623400/biomechanical-properties-of-the-patellar-tendon-in-children-with-heritable-connective-tissue-disorders
#13
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/29578868/hip-joint-effusion-synovitis-is-associated-with-hip-pain-and-sports-recreation-function-in-female-professional-ballet-dancers
#14
Susan Mayes, April-Rose Ferris, Peter Smith, Jill Cook
OBJECTIVE: To compare hip joint effusion-synovitis prevalence in professional ballet dancers with nondancing athletes and to evaluate the relationship between effusion-synovitis and clinical measures and cartilage defects. DESIGN: Case-control study. SETTING: Elite ballet and sport. PARTICIPANTS: Forty-nine professional ballet dancers and 49 age-matched and sex-matched athletes. INDEPENDENT VARIABLES: Group (dancers/athletes), sex, age, years of training, Copenhagen Hip and Groin Outcome Scores (HAGOSs), hip rotation range of motion (ROM), generalized joint hypermobility (GJH), and hip cartilage defect scores...
March 23, 2018: Clinical Journal of Sport Medicine: Official Journal of the Canadian Academy of Sport Medicine
https://www.readbyqxmd.com/read/29562607/a-cohort-study-comparing-women-with-autism-spectrum-disorder-with-and-without-generalized-joint-hypermobility
#15
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/29549890/clinical-and-ultrasonic-evaluation-of-the-thumb-comparison-of-young-adults-with-and-without-thumb-pain-with-text-messaging
#16
Charu Eapen, Bhaskaranand Kumar, Anil K Bhat, Anand Venugopal
OBJECTIVE: The aim of this study was to compare clinical and ultrasound findings of thumb joints in young adults with and without thumb pain associated with text messaging. METHODS: In this case-control study, 117 students with thumb pain associated with text messaging were evaluated clinically and with ultrasound analysis of the thumb. Age- and sex-matched controls received ultrasound evaluation to note any subclinical changes. RESULTS: Clinical examination in the cases identified tenderness most commonly in the metacarpophalangeal joints, followed by the carpometacarpal joints, and then the interphalangeal joints...
March 2018: Journal of Manipulative and Physiological Therapeutics
https://www.readbyqxmd.com/read/29533255/evaluation-of-the-efficacy-of-different-concentrations-of-dextrose-prolotherapy-in-temporomandibular-joint-hypermobility-treatment
#17
Rawand Mustafa, Metin Güngörmüş, Nur Mollaoğlu
PURPOSE: The aim of this study was to compare and evaluate the efficacy of different concentrations of dextrose prolotherapy for the treatment of temporomandibular joint (TMJ) hypermobility. PATIENTS AND METHODS: A prospective, randomized clinical trial including patients with subluxation or dislocation was performed. The study comprised 40 patients. Patients were randomly divided into 4 groups: control group, 10% dextrose, 20% dextrose, and 30% dextrose group. Patients in all groups received injections into 4 different areas of each TMJ in 4 sessions at monthly intervals...
March 12, 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29526241/occupational-hand-injuries-a-current-review-of-the-prevalence-and-proposed-prevention-strategies-for-physical-therapists-and-similar-healthcare-professionals
#18
REVIEW
Giles Gyer, Jimmy Michael, James Inklebarger
Hand injury is the second most common work-related musculoskeletal injury among physical therapists (PTs) and other manual therapy professionals such as osteopaths, physiotherapists, chiropractors, acupuncturists and massage therapists. However, the nature and extent of this problem have not been fully explored yet. Therefore, the objective of this study was to review the existing literature published on the prevalence, risk factors, consequences, and prevention of hand injuries among PTs and similar healthcare professionals...
March 2018: Journal of Integrative Medicine
https://www.readbyqxmd.com/read/29522416/lipedema-friend-and-foe
#19
Yanira Sanchez-De la Torre, Rita Wadeea, Victoria Rosas, Karen L Herbst
Background Lipedema is a chronic disorder presenting in women during puberty or other times of hormonal change such as childbirth or menopause, characterized by symmetric enlargement of nodular, painful subcutaneous adipose tissue (fat) in the limbs, sparing the hands, feet and trunk. Healthcare providers underdiagnose or misdiagnose lipedema as obesity or lymphedema. Materials and methods The benefits (friend) and negative aspects (foe) of lipedema were collected from published literature, discussions with women with lipedema, and institutional review board approved evaluation of medical charts of 46 women with lipedema...
March 9, 2018: Hormone Molecular Biology and Clinical Investigation
https://www.readbyqxmd.com/read/29520887/evaluation-of-a-patient-with-classical-ehlers-danlos-syndrome-due-to-a-9q34-duplication-affecting-col5a1
#20
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
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