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Joint hypermobility

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https://www.readbyqxmd.com/read/28543732/joint-hypermobility-is-also-associated-with-anxiety-disorders-in-the-elderly-population
#1
Andrea Bulbena-Cabré, Conxita Rojo, Guillem Pailhez, Emma Buron Maso, Luis Miguel Martín-Lopez, Antonio Bulbena
BACKGROUND: Anxiety disorders (AD) are very prevalent in the elderly, tend to compromise quality of life, and generate substantial costs. Considering that the prevention and early detection of anxiety may be relevant to increase health gains in older adults, it would be of great interest to identify whether the joint hypermobility syndrome (JHS) is also related to anxiety disorders in this age range. METHODS: Cross-sectional data was collected in a sample of 108 subjects in a rural town in Spain...
May 23, 2017: International Journal of Geriatric Psychiatry
https://www.readbyqxmd.com/read/28535850/eyes-closed-single-limb-balance-is-not-related-to-hypermobility-status-in-dancers
#2
Tiffany A Marulli, Lindsay E Harmon-Matthews, J Hope Davis-Coen, Nienke W Willigenburg, Timothy E Hewett
Hypermobility may be associated with decreased lower extremity proprioception, which in turn may increase injury risk. The prevalence of hypermobility in dancers varies across studies, but joint hypermobility appears to be more common in dancers than in the general population. The purpose of this study was to determine how hypermobility affects eyes-closed single-limb balance as an indirect measure of proprioception in dancers. The secondary aim was to compare hypermobility and balance across dancer affiliation groups...
June 15, 2017: Journal of Dance Medicine & Science
https://www.readbyqxmd.com/read/28485813/spectrum-of-mucocutaneous-ocular-and-facial-features-and-delineation-of-novel-presentations-in-62-classical-ehlers-danlos-syndrome-patients
#3
Marina Colombi, Chiara Dordoni, Marina Venturini, Claudia Ciaccio, Silvia Morlino, Nicola Chiarelli, Arianna Zanca, Piergiacomo Calzavara-Pinton, Nicoletta Zoppi, Marco Castori, Marco Ritelli
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. The major and minor Villefranche criteria, additional 11 mucocutaneous signs and 15 facial dysmorphic traits were ascertained and feature rates compared by sex and age...
May 9, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28482708/features-that-exacerbate-fatigue-severity-in-joint-hypermobility-syndrome-ehlers-danlos-syndrome-hypermobility-type
#4
Anne Maree Krahe, Roger David Adams, Leslie Lorenda Nicholson
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...
May 9, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28480089/atraumatic-acromioclavicular-dislocation-a-case-report-and-review-of-the-literature
#5
Nasrat Sadeghi, Pieter Stijn Haen, Ron Onstenk
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. Clinical examination showed crepitation as well as palpitation pain and dislocation of the AC joint. There were no symptoms of Marfan or Ehlers-Danlos syndrome as other joint examinations were also negative for hypermobility...
2017: Case Reports in Orthopedics
https://www.readbyqxmd.com/read/28460873/long-term-therapeutic-effects-of-dextrose-prolotherapy-in-patients-with-hypermobility-of-the-temporomandibular-joint-a-single-arm-study-with-1-4-years-follow-up
#6
H Refai
The aim was to analyse the short-term and long-term therapeutic efficacy of dextrose prolotherapy for dislocation or subluxation (hypermobility) of the temporomandibular joint (TMJ). Sixty-one patients with symptomatic hypermobility of the TMJ were included in this single-arm prospective study, in which they were each given four sessions of intra-articular and pericapsular injections six weeks apart. Each injection comprised 10% dextrose/mepivacaine solution 3ml. Clinical outcomes including severity of pain on movement according to the numerical rating scale (NRS), maximal interincisal opening, clicking, and frequency of locking were measured before treatment (T1), during treatment (T2) (just before the third session of injections), at the short-term follow-up (T3) (three months after treatment), and at the long-term follow-up (T4) (1-4 years after treatment)...
April 28, 2017: British Journal of Oral & Maxillofacial Surgery
https://www.readbyqxmd.com/read/28451620/generalized-joint-hypermobility-is-predictive-of-hip-capsular-thickness
#7
Brian M Devitt, Bjorn N Smith, Robert Stapf, Mark Tacey, John M O'Donnell
BACKGROUND: The pathomechanics of hip microinstability are not clearly defined but are thought to involve anatomical abnormalities, repetitive forces across the hip, and ligamentous laxity. PURPOSE/HYPOTHESIS: The purpose of this study was to explore the relationship between generalized joint hypermobility (GJH) and hip capsular thickness. The hypothesis was that GJH would be predictive of a thin hip capsule. STUDY DESIGN: Cross-sectional study; Level of evidence, 3...
April 2017: Orthopaedic Journal of Sports Medicine
https://www.readbyqxmd.com/read/28442527/a-novel-fibrillin-1-gene-mutation-leading-to-marfan-syndrome-in-a-korean-girl
#8
Hyo-Kyoung Nam, Myung-Hyun Nam, Kee-Soo Ha, Young-Jun Rhie, Kee-Hyoung Lee
Marfan syndrome is an autosomal dominant genetic disorder caused by a connective tissue defect. A nine-year-old girl was referred to our pediatric endocrinology clinic for tall stature. Physical examination revealed a lens dislocation with strabismus, high palate, positive wrist and thumb signs, joint hypermobility, and pes planus. Transthoracic echocardiography revealed dilatation of the aortic root. She was diagnosed with Marfan syndrome based on the revised Ghent diagnostic criteria. Molecular investigation identified a heterozygous c...
March 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28439165/single-injection-technique-prolotherapy-for-hypermobility-disorders-of-tmj-using-25%C3%A2-dextrose-a-clinical-study
#9
S K Majumdar, Shreya Krishna, Aritra Chatterjee, Rajib Chakraborty, Nazrealam Ansari
INTRODUCTION: Hypermobility disorders of the Temporomandibular joint (TMJ) can be treated by both conservative and surgical approaches. Conservative approaches should be considered as first line treatment for such disorders. Prolotherapy with 25 % dextrose being injected into the posterior pericapsular tissues is one such treatment modality with favorable outcomes. AIM: To study the efficacy of single injection of 25 % dextrose in pericapsular tissues in the management of hypermobility joint disorders of TMJ as first line treatment...
June 2017: Journal of Maxillofacial and Oral Surgery
https://www.readbyqxmd.com/read/28436618/natural-history-of-aortic-root-dilation-through-young-adulthood-in-a-hypermobile-ehlers-danlos-syndrome-cohort
#10
Alyssa Ritter, Carrie Atzinger, Brandon Hays, Jeanne James, Amy Shikany, Derek Neilson, Lisa Martin, Kathryn Nicole Weaver
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. A cohort of 325 patients with HEDS was identified at Cincinnati Children's Hospital Medical Center (CCHMC), including 163 patients from a previous study. Medical records were reviewed and each participant's height, weight, and aortic dimensions from up to four echocardiograms were documented...
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28431150/the-natural-history-of-children-with-joint-hypermobility-syndrome-and-ehlers-danlos-hypermobility-type-a-longitudinal-cohort-study
#11
Mark C Scheper, Lesley L Nicholson, Roger D Adams, Louise Tofts, Verity Pacey
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.: One hundred and one JHS/EDS-HT children were observed over 3 years and assessed at three time points on the following: functional impairments, quality of life, connective tissue laxity, muscle function, postural control and musculoskeletal and multi-systemic complaints...
April 18, 2017: Rheumatology
https://www.readbyqxmd.com/read/28422173/critical-involvement-of-zeb2-in-collagen-fibrillogenesis-the-molecular-similarity-between-mowat-wilson-syndrome-and-ehlers-danlos-syndrome
#12
Mika Teraishi, Mikiro Takaishi, Kimiko Nakajima, Mitsunori Ikeda, Yujiro Higashi, Shinji Shimoda, Yoshinobu Asada, Atsushi Hijikata, Osamu Ohara, Yoko Hiraki, Seiji Mizuno, Toshiyuki Fukada, Takahisa Furukawa, Nobuaki Wakamatsu, Shigetoshi Sano
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. Here, we recognized that MOWS patients exhibit many Ehlers-Danlos syndrome (EDS)-like symptoms, such as skin hyperextensibility, atrophic scars and joint hypermobility...
April 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28419360/p4ha1-mutations-cause-a-unique-congenital-disorder-of-connective-tissue-involving-tendon-bone-muscle-and-the-eye
#13
Yaqun Zou, Sandra Donkervoort, Antti M Salo, A Reghan Foley, Aileen M Barnes, Ying Hu, Elena Makareeva, Meganne E Leach, Payam Mohassel, Jahannaz Dastgir, Matthew A Deardorff, Ronald D Cohn, Wendy O DiNonno, Fransiska Malfait, Monkol Lek, Sergey Leikin, Joan C Marini, Johanna Myllyharju, Carsten G Bönnemann
Collagen prolyl 4-hydroxylases (C-P4Hs) play a central role in the formation and stabilization of the triple helical domain of collagens. P4HA1 encodes the catalytic α(I) subunit of the main C-P4H isoenzyme (C-P4H-I). We now report human bi-allelic P4HA1 mutations in a family with a congenital-onset disorder of connective tissue, manifesting as early-onset joint hypermobility, joint contractures, muscle weakness and bone dysplasia as well as high myopia, with evidence of clinical improvement of motor function over time in the surviving patient...
April 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28414775/xp11-22-deletions-encompassing-cenpvl1-cenpvl2-maged1-and-gspt2-as-a-cause-of-syndromic-x-linked-intellectual-disability
#14
Christina Grau, Molly Starkovich, Mahshid S Azamian, Fan Xia, Sau Wai Cheung, Patricia Evans, Alex Henderson, Seema R Lalani, Daryl A Scott
By searching a clinical database of over 60,000 individuals referred for array-based CNV analyses and online resources, we identified four males from three families with intellectual disability, developmental delay, hypotonia, joint hypermobility and relative macrocephaly who carried small, overlapping deletions of Xp11.22. The maximum region of overlap between their deletions spanned ~430 kb and included two pseudogenes, CENPVL1 and CENPVL2, whose functions are not known, and two protein coding genes-the G1 to S phase transition 2 gene (GSPT2) and the MAGE family member D1 gene (MAGED1)...
2017: PloS One
https://www.readbyqxmd.com/read/28386937/a-recognizable-systemic-connective-tissue-disorder-with-polyvalvular-heart-dystrophy-and-dysmorphism-associated-with-tab2-mutations
#15
Marco Ritelli, Silvia Morlino, Edoardo Giacopuzzi, Laura Bernardini, Barbara Torres, Graziano Santoro, Viola Ravasio, Nicola Chiarelli, Daniela D'Angelantonio, Antonio Novelli, Paola Grammatico, Marina Colombi, Marco Castori
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...
April 6, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28361275/effects-of-spinal-stabilization-exercises-in-women-with-benign-joint-hypermobility-syndrome-a-randomized-controlled-trial
#16
Seyda Toprak Celenay, Derya Ozer Kaya
The aim of this study was to investigate the effects of an 8-week lumbar spinal stabilization exercise program on pain, trunk muscle endurance, and postural stability in women with benign joint hypermobility syndrome (BJHS). Women with BJHS were randomly allocated into exercise (n = 20) and control (n = 18) groups. The lumbar spinal stabilization exercise program was carried out 3 days a week for 8 weeks. BJHS with Brighton criteria, musculoskeletal pain intensity with Visual Analog Scale, trunk muscle endurance with McGill's trunk muscle endurance tests, and postural stability as static and dynamic while eyes open and closed with Biodex Balance System SD were evaluated...
March 30, 2017: Rheumatology International
https://www.readbyqxmd.com/read/28346368/pathophysiological-significance-of-dermatan-sulfate-proteoglycans-revealed-by-human-genetic-disorders
#17
REVIEW
Shuji Mizumoto, Tomoki Kosho, Shuhei Yamada, Kazuyuki Sugahara
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...
March 27, 2017: Pharmaceuticals
https://www.readbyqxmd.com/read/28344932/mutation-in-tnxb-gene-causes-moderate-to-severe-ehlers-danlos-syndrome
#18
Carolyn S Kaufman, Merlin G Butler
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. This gene variant was reported previously in a different 36-year-old patient who shared our patient's symptoms of joint hypermobility, skeletal and joint pain, skin elasticity and musculoskeletal problems, thereby causing a more severe presentation than seen in the hypermobility type of Ehlers-Danlos syndrome (EDS)...
May 27, 2016: World Journal of Medical Genetics
https://www.readbyqxmd.com/read/28340003/beighton-scores-and-cut-offs-across-the-lifespan-cross-sectional-study-of-an-australian-population
#19
Harjodh Singh, Marnee McKay, Jennifer Baldwin, Leslie Nicholson, Cliffton Chan, Joshua Burns, Claire E Hiller
Objectives.: The primary aim of this study was to evaluate generalized joint hypermobility (GJH) according to the Beighton scoring system in an Australian population. Secondary aims were to identify whether the commonly used Beighton score cut-off of ⩾4 is appropriate, and to suggest age- and sex-specific Beighton score cut-offs across the lifespan. Methods.: A thousand individuals aged 3-101 years were assessed for GJH with the Beighton scoring system. Differences between age, sex and ethnicity were investigated...
March 2, 2017: Rheumatology
https://www.readbyqxmd.com/read/28306230/the-evidence-based-rationale-for-physical-therapy-treatment-of-children-adolescents-and-adults-diagnosed-with-joint-hypermobility-syndrome-hypermobile-ehlers-danlos-syndrome
#20
Raoul H H Engelbert, Birgit Juul-Kristensen, Verity Pacey, Inge de Wandele, Sandy Smeenk, Nicoleta Woinarosky, Stephanie Sabo, Mark C Scheper, Leslie Russek, Jane V Simmonds
New insights into the phenotype of Joint Hypermobility Syndrome (JHS) and Ehlers-Danlos Syndrome-hypermobile type (hEDS) have raised many issues in relation to classification, diagnosis, assessment, and treatment. Within the multidisciplinary team, physical therapy plays a central role in management of individuals with hypermobility related disorders. However, many physical therapists are not familiar with the diagnostic criteria, prevalence, common clinical presentation, and management. This guideline aims to provide practitioners with the state of the art regarding the assessment and management of children, adolescents, and adults with JHS/hEDS...
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
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