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https://www.readbyqxmd.com/read/28439165/single-injection-technique-prolotherapy-for-hypermobility-disorders-of-tmj-using-25%C3%A2-dextrose-a-clinical-study
#1
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/28437350/biomechanical-effects-of-a-dynamic-topping-off-instrumentation-in-a-long-rigid-pedicle-screw-construct
#2
Michael Reichl, Rebecca A Kueny, Reza Danyali, Peter Obid, Hüseyin Übeyli, Klaus Püschel, Michael M Morlock, Gerd Huber, Thomas Niemeyer, Alexander Richter
STUDY DESIGN: Biomechanical ex vivo study. OBJECTIVE: To determine if topping off instrumentation can reduce the hypermobility in the adjacent segments when compared with the classic rigid spinal instrumentation. SUMMARY OF THE BACKGROUND DATA: Long rigid instrumentation might increase the mechanical load in the adjacent segments, the resulting hypermobility, and the risk for adjacent segment disease. Topping off instrumentation intends to reduce the hypermobility at the adjacent level by more evenly distributing segmental motion and, thereby, potentially mitigating adjacent level disease...
May 2017: Clinical Spine Surgery
https://www.readbyqxmd.com/read/28436618/natural-history-of-aortic-root-dilation-through-young-adulthood-in-a-hypermobile-ehlers-danlos-syndrome-cohort
#3
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...
April 24, 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
#4
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
#5
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
#6
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
#7
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/28399554/anterior-cervical-discectomy-and-fusion-provides-better-surgical-outcomes-than-posterior-laminoplasty-in-elderly-patients-with-c3-4-level-myelopathy
#8
Koji Tamai, Hidetomi Terai, Akinobu Suzuki, Hiromitsu Toyoda, Masatoshi Hoshino, Shinji Takahashi, Kazunori Hayashi, Shoichiro Ohyama, Hiroaki Nakamura
STUDY DESIGN: Retrospective analyses of prospectively collected data regarding 180 patients with cervical spondylotic myelopathy (CSM). OBJECTIVE: To detect the characteristics of C3-4 level CSM in elderly patients (C3-4CSM) (main analysis) and to validate the postoperative outcomes of anterior cervical discectomy and fusion (ACDF) and of laminoplasty (LAMP) (subgroup analysis). SUMMARY OF BACKGROUND DATA: It remains unclear which surgical technique offers the best outcomes for CSM...
April 15, 2017: Spine
https://www.readbyqxmd.com/read/28386937/a-recognizable-systemic-connective-tissue-disorder-with-polyvalvular-heart-dystrophy-and-dysmorphism-associated-with-tab2-mutations
#9
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/28383606/generalized-aggressive-periodontitis-microbiological-composition-and-clinical-parameters-in-non-surgical-therapy
#10
María M Usin, Sandra M Tabares, Julieta Menso, Estela R de Albera, Adela Sembaj
The aim of this study was to determine the variations in periodontal parameters and microbiological composition in periodontal pockets at the baseline and 3 and 6 months post treatmentin patients with Generalized Aggressive Periodontitis(GAP) undergoing non surgical periodontal treatment combined with chlorhexidine and systemic antibiotics. Medical and dental history was taken from 10 subjects, average age 30.6±2.7 years, diagnosed with GAP. A non surgical periodontal treatment combined with 0.12% chlorhexidine, 875 mg amoxicillin and 500 mg metronidazole every 12 hours for ten days was conducted...
December 2016: Acta Odontológica Latinoamericana: AOL
https://www.readbyqxmd.com/read/28380161/associated-factors-to-urinary-incontinence-in-women-undergoing-urodynamic-testing
#11
Juliana Cristina Pereira da Silva, Zaida Aurora Sperli Geraldes Soler, Anneliese DominguesWysocki
OBJECTIVE: Analyzing factors associated with urinary incontinence (UI) among women submitted to urodynamic testing. METHOD: A cross-sectional study of 150 women attended at a urological center. Data were analyzed using univariate and multivariate statistics. RESULTS: White women (79.3%), overweight (45.3%), menopausal (53.3%), who drink coffee (82.7%), sedentary (65.3%), who had vaginal birth (51.4%), with episiotomy (80%), and who underwent the Kristeller maneuver (69%)...
April 3, 2017: Revista da Escola de Enfermagem da U S P
https://www.readbyqxmd.com/read/28361275/effects-of-spinal-stabilization-exercises-in-women-with-benign-joint-hypermobility-syndrome-a-randomized-controlled-trial
#12
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
#13
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
#14
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/28343881/musculoskeletal-pain-in-children-when-hypermobility-is-the-problem
#15
M Cattalini, R Cimaz
No abstract text is available yet for this article.
May 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28340003/beighton-scores-and-cut-offs-across-the-lifespan-cross-sectional-study-of-an-australian-population
#16
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/28315496/remeex-device-external-mechanical-regulator-for-female-stress-urinary-incontinence-a-critical-review-of-a-single-operator-long-term-experience-on-implants-and-readjustments
#17
Franco Mantovani
OBJECTIVE: A single-operator, long-term (15 years) experience on a sling technique that allows a postoperative adjustment of its tension is presented to retrospectively report the objective and subjective outcomes in the treatment of female stress urinary incontinence (SUI). The readjustment option prevents the need of a reoperation in case of relapse with great compliance of the patients. MATERIALS AND METHODS: Indications for surgical tratment of SUI by ReMeEx included patients affected with not only true intrinsic sphyncteric deficency (ISD) and fixed urethra but also mild urethral hypermobility, previous incontinence surgery and relapsing conditions such as diabetes and obesity...
March 18, 2017: Urologia
https://www.readbyqxmd.com/read/28306603/current-treatment-of-pelvic-organ-prolapse-correlated-with-chronic-pelvic-pain-bladder-and-bowel-dysfunction
#18
Bernhard Liedl, Klaus Goeschen, Leopold Durner
PURPOSE OF REVIEW: The purpose of this review is to critically analyze the relationship between symptoms of abnormal emptying of the bladder, urgency, pelvic pain, anorectal dysfunction and pelvic organ prolapse (POP) and to present evidence in order to show how many of the above mentioned symptoms can be cured or substantially improved by repair of specific pelvic ligaments. RECENT FINDINGS: In this review, we provide evidence to show how often these dysfunctions occur and how they can be cured in 42-94% by appropriate pelvic floor surgery in the longer term, up to 2 years...
May 2017: Current Opinion in Urology
https://www.readbyqxmd.com/read/28306231/cover-image-volume-175c-number-1-march-2017
#19
(no author information available yet)
The cover image, by Brad Tinkle et al., is based on the Research Article Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history, DOI: 10.1002/ajmg.c.31538.
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
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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