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https://www.readbyqxmd.com/read/28687525/smd-kozlowski-type-caused-by-p-arg594his-substitution-in-trpv4-reveals-abnormal-ossification-and-notochordal-remnants-in-discs-and-vertebrae
#1
Tadeusz Bieganski, Peter Beighton, Maciej Lukaszewski, Krzysztof Bik, Lukasz Kuszel, Ewa Wasilewska, Kazimierz Kozlowski, Malwina Czarny-Ratajczak
Spondylometaphyseal dysplasia Kozlowski type (SMDK) is a monogenic disorder within the TRPV4 dysplasia spectrum and has characteristic spinal and metaphyseal involvement. We report skeletal MR imaging in a two-year-old patient who manifested typical clinical and radiographic features of SMDK. The diagnosis was confirmed by molecular analysis which revealed a mutation NM_021625.4:c.1781G > A - p.(Arg594His) in exon 11 of the TRPV4 gene. We have documented abnormalities in endochondral formation of the long and short tubular bones as well as round bones of the wrists and feet...
July 4, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28656782/impact-of-generalized-joint-laxity-on-plantar-loading-patterns-in-young-females
#2
Elif Aydın, Ayfer Metin Tellioğlu, I Mran Kurt Ömürlü, Yasemin Turan
BACKGROUND: Generalized joint laxity is often associated with gait deviations. The aim of this study was to investigate the static and dynamic loading pattern of the foot with increasing joint mobility and to discuss the potential impact of this condition on the plantar loading patterns. METHODS: Seventy female participants between ages of 18 and 30 were included in this cross-sectional survey. The Beighton-Horan Joint Mobility Index scores were assessed and participants divided into 3 categories: no hypermobility (NH) group, scores 0 to 2; moderate hypermobility (MH) group, scores 3 to 4; distinct hypermobility (DH) group, scores 5 to 9...
June 1, 2017: Foot & Ankle International
https://www.readbyqxmd.com/read/28605279/the-effect-of-shoulder-muscle-fatigue-on-acromiohumeral-distance-and-scapular-dyskinesis-in-women-with-generalized-joint-hypermobility
#3
Razie J Alibazi, Afsun Nodehi Moghadam, Ann M Cools, Enayatollah Bakhshi, Alireza Aziz Ahari
Muscle fatigue is considered to be one cause of shoulder pain, and subjects with generalized joint hypermobility (GJH) are affected more by shoulder pain. The purpose of this study was to examine the effects of muscle fatigue on acromiohumeral distance (AHD) and scapular dyskinesis in women with GJH. Thirty-six asymptomatic participants were assigned to either a GJH (n=20) or control group (n=16) using the Beighton scale. Before and after elevation fatigue trials, AHD was measured with ultrasonography at rest and when the arm was in 90° active elevation...
June 12, 2017: Journal of Applied Biomechanics
https://www.readbyqxmd.com/read/28599980/generalized-hypermobility-knee-hyperextension-and-outcomes-after-anterior-cruciate-ligament-reconstruction-prospective-case-control-study-with-mean-6%C3%A2-years-follow-up
#4
Christopher M Larson, Asheesh Bedi, Mark E Dietrich, Jennifer C Swaringen, Corey A Wulf, David M Rowley, M Russell Giveans
PURPOSE: To determine whether generalized hypermobility and contralateral knee hyperextension affect failure rates and patient-related outcomes after anterior cruciate ligament reconstruction (ACLR). METHODS: A total of 226 consecutive patients presenting with acute ACL tears were prospectively evaluated for generalized hypermobility by a modified Beighton criteria. Minimum 2-year follow-up was achieved for 183 knees (81%). Patients underwent ACLR with either bone-patellar-tendon (BPTB) autograft (n = 46), quadrupled hamstring (HT) autograft (n = 85), or allograft tissue (n = 52)...
June 6, 2017: Arthroscopy: the Journal of Arthroscopic & related Surgery
https://www.readbyqxmd.com/read/28549187/generalized-joint-hypermobility-a-timely-population-study-and-proposal-for-beighton-cut-offs-beighton-cut-offs-for-generalized-joint-hypermobility
#5
https://www.readbyqxmd.com/read/28535850/eyes-closed-single-limb-balance-is-not-related-to-hypermobility-status-in-dancers
#6
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/28492130/osteogenesis-imperfecta-type-3-in-south-africa-causative-mutations-in-fkbp10
#7
Alvera Vorster, Peter Beighton, Manogari Chetty, Yasmeen Ganie, Bertram Henderson, Engela Honey, Piet Maré, David Thompson, Karen Fieggen, Denis Viljoen, Rajkumar Ramesar
BACKGROUND: A relatively high frequency of autosomal recessively inherited osteogenesis imperfecta (OI) type 3 (OI-3) is present in the indigenous black southern African population. Affected persons may be severely handicapped as a result of frequent fractures, progressive deformity of the tubular bones and spinal malalignment. OBJECTIVE: To delineate the molecular basis for the condition. METHODS: Molecular investigations were performed on 91 affected persons from seven diverse ethnolinguistic groups in this population...
April 25, 2017: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
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
#8
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/28451620/generalized-joint-hypermobility-is-predictive-of-hip-capsular-thickness
#9
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/28413130/arthroscopic-treatment-of-labral-tears-of-the-hip-in-adolescents-patterns-of-clinical-presentation-intra-articular-derangements-radiological-associations-and-minimum-2-year-outcomes
#10
Sivashankar Chandrasekaran, Nader Darwish, Edwin O Chaharbakhshi, Parth Lodhia, Carlos Suarez-Ahedo, Benjamin G Domb
PURPOSE: To report on patterns of clinical presentation, intra-articular derangements, radiological associations, and minimum 2-year outcomes after hip arthroscopy (HA) in patients 18 years or younger. METHODS: This study was a retrospective case series on patients 18 years or younger who had undergone HA for labral tears that had failed nonoperative management from April 2008 to April 2013 with a minimum 2-year follow-up. Exclusion criteria were previous hip conditions or surgery...
April 13, 2017: Arthroscopy: the Journal of Arthroscopic & related Surgery
https://www.readbyqxmd.com/read/28367693/outcomes-of-the-modified-brostr%C3%A3-m-procedure-augmented-with-suture-tape-for-ankle-instability-in-patients-with-generalized-ligamentous-laxity
#11
Byung-Ki Cho, Kyoung-Jin Park, Ji-Kang Park, Nelson F SooHoo
BACKGROUND: Although recent biomechanical studies have reported mechanical superiority of augmented anterior talofibular ligament reconstruction using suture-tape, clinical evidence regarding the efficacy of suture-tape augmentation is still insufficient. This prospective study was performed to evaluate the outcomes of the modified Broström procedure augmented with suture-tape for chronic ankle instability with generalized ligamentous laxity, which has been known to be a poor prognostic factor for anatomic ligament repair...
April 2017: Foot & Ankle International
https://www.readbyqxmd.com/read/28340003/beighton-scores-and-cut-offs-across-the-lifespan-cross-sectional-study-of-an-australian-population
#12
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/28306223/measurement-properties-of-clinical-assessment-methods-for-classifying-generalized-joint-hypermobility-a-systematic-review
#13
REVIEW
Birgit Juul-Kristensen, Karoline Schmedling, Lies Rombaut, Hans Lund, Raoul H H Engelbert
The purpose was to perform a systematic review of clinical assessment methods for classifying Generalized Joint Hypermobility (GJH), evaluate their clinimetric properties, and perform the best evidence synthesis of these methods. Four test assessment methods (Beighton Score [BS], Carter and Wilkinson, Hospital del Mar, Rotes-Querol) and two questionnaire assessment methods (Five-part questionnaire [5PQ], Beighton Score-self reported [BS-self]) were identified on children or adults. Using the Consensus-based Standards for selection of health Measurement Instrument (COSMIN) checklist for evaluating the methodological quality of the identified studies, all included studies were rated "fair" or "poor...
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28293451/investigation-of-joint-hypermobility-in-individuals-with-hyperbilirubinemia
#14
Muhammet Çınar, Mustafa Çakar, Kadir Öztürk, İbrahim Çetindağlı, Sedat Yılmaz, Ayhan Dinç
OBJECTIVE: Benign joint hypermobility syndrome refers to hypermobile individuals with musculoskeletal symptoms in the absence of any systemic rheumatic disease; its prevalence is approximately 0.5%. In animal studies, bilirubin has been shown to reduce fibrosis induced by bleomycin. It has been suggested that bilirubin leads to hypermobility that affects the structure or function of collagen. In addition, our observation is that hypermobility occurs more often in patients with indirect hyperbilirubinemia...
March 2017: European Journal of Rheumatology
https://www.readbyqxmd.com/read/28266109/role-of-microbial-biofilms-in-the-maintenance-of-oral-health-and-in-the-development-of-dental-caries-and-periodontal-diseases-consensus-report-of-group-1-of-the-joint-efp-orca-workshop-on-the-boundaries-between-caries-and-periodontal-disease
#15
Mariano Sanz, David Beighton, Michael A Curtis, Jaime A Cury, Irene Dige, Henrik Dommisch, Roger Ellwood, Rodrigo Giacaman, David Herrera, Mark C Herzberg, Eija Könönen, Philip D Marsh, Joerg Meyle, Alex Mira, Ana Molina, Andrea Mombelli, Marc Quirynen, Eric C Reynolds, Lior Shapira, Egija Zaura
BACKGROUND AND AIMS: The scope of this working group was to review (1) ecological interactions at the dental biofilm in health and disease, (2) the role of microbial communities in the pathogenesis of periodontitis and caries, and (3) the innate host response in caries and periodontal diseases. RESULTS AND CONCLUSIONS: A health-associated biofilm includes genera such as Neisseria, Streptococcus, Actinomyces, Veillonella and Granulicatella. Microorganisms associated with both caries and periodontal diseases are metabolically highly specialized and organized as multispecies microbial biofilms...
March 2017: Journal of Clinical Periodontology
https://www.readbyqxmd.com/read/28266107/refining-patterns-of-joint-hypermobility-habitus-and-orthopedic-traits-in-joint-hypermobility-syndrome-and-ehlers-danlos-syndrome-hypermobility-type
#16
Silvia Morlino, Chiara Dordoni, Isabella Sperduti, Marina Venturini, Claudia Celletti, Filippo Camerota, Marina Colombi, Marco Castori
Joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome, hypermobility type (EDS-HT) are two overlapping heritable disorders (JHS/EDS-HT) recognized by separated sets of diagnostic criteria and still lack a confirmatory test. This descriptive research was aimed at better characterizing the clinical phenotype of JHS/EDS-HT with focus on available diagnostic criteria, and in order to propose novel features and assessment strategies. One hundred and eighty-nine (163 females, 26 males; age: 2-73 years) patients from two Italian reference centers were investigated for Beighton score, range of motion in 21 additional joints, rate and sites of dislocations and sprains, recurrent soft-tissue injuries, tendon and muscle ruptures, body mass index, arm span/height ratio, wrist and thumb signs, and 12 additional orthopedic features...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28192633/ehlers-danlos-syndrome-classical-type
#17
Jessica M Bowen, Glenda J Sobey, Nigel P Burrows, Marina Colombi, Mark E Lavallee, Fransiska Malfait, Clair A Francomano
Classical EDS is a heritable disorder of connective tissue. Patients are affected with joint hypermobility, skin hyperextensibilty, and skin fragility leading to atrophic scarring and significant bruising. These clinical features suggest consideration of the diagnosis which then needs to be confirmed, preferably by genetic testing. The most recent criteria for the diagnosis of EDS were devised in Villefranche in 1997. [Beighton et al. (1998); Am J Med Genet 77:31-37]. The aims set out in the Villefranche Criteria were: to enable diagnostic uniformity for clinical and research purposes, to understand the natural history of each subtype of EDS, to inform management and genetic counselling, and to identify potential areas of research...
February 13, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28146401/no-effect-of-generalized-joint-hypermobility-on-injury-risk-in-elite-female-soccer-players-a-prospective-cohort-study
#18
Donna Blokland, Karin M Thijs, Frank J G Backx, Edwin A Goedhart, Bionka M A Huisstede
BACKGROUND: Although it has been suggested that generalized joint hypermobility (GJH) is a risk factor for injury in soccer players, it remains unclear whether this applies to elite female soccer players. PURPOSE: To investigate whether GJH is a risk factor for injury in elite female soccer players. STUDY DESIGN: Cohort study; Level of evidence, 2. METHODS: Elite female soccer players in the Netherlands were screened at the start of the 2014-2015 competitive season...
February 2017: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/28141941/outcome-of-hip-impingement-surgery-does-generalized-joint-hypermobility-matter
#19
Florian D Naal, Aileen Müller, Viju D Varghese, Vanessa Wellauer, Franco M Impellizzeri, Michael Leunig
BACKGROUND: Generalized joint hypermobility (JH) might negatively influence the results of surgical femoroacetabular impingement (FAI) treatment, as JH has been linked to musculoskeletal pain and injury incidence in athletes. JH may also be associated with worse outcomes of FAI surgery in thin females. PURPOSE: To (1) determine the results of FAI surgery at a minimum 2-year follow-up by means of patient-reported outcome measures (PROMs) and failure rates, (2) assess the prevalence of JH in FAI patients and its effect on outcomes, and (3) identify other risk factors associated with treatment failure...
May 2017: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/28052441/joint-hypermobility-and-oligoarticular-juvenile-idiopathic-arthritis-what-relationship
#20
Vanessa Cecchin, Francesca Sperotto, Marta Balzarin, Fabio Vittadello, Giorgia Martini, Francesco Zulian
AIM: Oligoarticular onset juvenile idiopathic arthritis (oJIA) is characterised by a prevalent lower limb involvement, antinuclear antibodies (ANA) positivity and high risk of anterior uveitis. As we observed that oJIA patients frequently present with joint hypermobility (JH), we investigated whether there was a relationship between oJIA and JH. METHODS: Our series consisted of children with oJIA, as defined by the International League of Associations for Rheumatology criteria, for whom complete clinical data of at least 2 years' duration were available...
April 2017: Journal of Paediatrics and Child Health
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