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https://www.readbyqxmd.com/read/28918999/diagnosis-of-ehlers-danlos-syndrome-after-a-first-shoulder-dislocation
#1
Geoffroy Nourissat, Marie Vigan, Claude Hamonet, Levon Doursounian, Julien Deranlot
BACKGROUND: Shoulder dislocation is often the first symptom of Ehlers-Danlos syndrome (EDS). Whether it occurs in early-onset EDS is unknown. In most cases, surgical failure leads to the diagnosis. We aimed to determine whether clinical symptoms can signal the presence of EDS at a first dislocation. MATERIALS AND METHODS: In this retrospective study, we analyzed clinical and radiologic data for 27 patients with EDS and shoulder instability and a control population of 40 consecutive non-EDS patients undergoing surgery for an unstable shoulder...
September 14, 2017: Journal of Shoulder and Elbow Surgery
https://www.readbyqxmd.com/read/28918784/-treatment-of-patellar-instability
#2
Martin Lind, Peter Faunø, Ole Gade Sørensen, Bjarne Mygind-Klavsen
First-time patellar luxation appears typically in teenagers and young adults below the age of 16 years, with a prevalence of 45/100,000/year. This luxation is treated with brief limited mobility in a bandage, and with a complementary physiotherapy if the mobility is influenced afterwards. Risk factors for patellar instability are patellofemoral dysplasia, hyperlaxity, patella alta and valgus malalignment in the knee joint. In case of repeated luxation the treatment is surgical, i.e. reconstruction of the medial patellofemoral ligament recreating the medial patella-stabilizing structures...
September 18, 2017: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/28777214/recurrent-shoulder-instability-after-primary-bankart-repair
#3
Michael A Donohue, Timothy C Mauntel, Jonathan F Dickens
The glenohumeral joint is one of the most frequently dislocated joints and occurs with increasing frequency in collision and contact athletes, especially those in sports that repeatedly place the glenohumeral joint in a position of vulnerability. Nonoperative management of shoulder instability especially in young contact athletes results in unacceptably high recurrence rates; thus, early surgical stabilization has become commonplace. Surgical stabilization typically yields acceptable outcomes. However, recurrent anterior instability may occur following a previous stabilization procedure at rates of 7% to 12%...
September 2017: Sports Medicine and Arthroscopy Review
https://www.readbyqxmd.com/read/28745068/arthroscopic-capsular-shrinkage-for-treatment-of-chronic-lateral-ankle-instability
#4
Gwendolyn Vuurberg, Jasper S de Vries, Rover Krips, Leendert Blankevoort, Alex W F M Fievez, C Niek van Dijk
BACKGROUND: Capsular shrinkage is an arthroscopic stabilization technique that can be used in patients with chronic ankle instability (CAI), if desired in addition to primary arthroscopic procedures. Despite positive short-term results, long-term follow-up of these patients has not yet been performed. Therefore, our objective was to assess whether capsular shrinkage still provided functional outcome after 12-14 years compared to preoperative scores. METHODS: This study was a retrospective long-term follow-up of a prospectively conducted longitudinal multicenter trial...
July 1, 2017: Foot & Ankle International
https://www.readbyqxmd.com/read/28660205/pneumothoraces-in-collagen-vi-related-dystrophy-a-case-series-and-recommendations-for-management
#5
Kristin L Fraser, Scott Wong, A Reghan Foley, Sameer Chhibber, Carsten G Bönnemann, Daniel J Lesser, Carla Grosmann, Anne Rutkowski
Collagen VI-related dystrophy (collagen VI-RD) is a rare neuromuscular condition caused by mutations in the COL6A1, COL6A2 or COL6A3 genes. The phenotypic spectrum includes early-onset Ullrich congenital muscular dystrophy, adult-onset Bethlem myopathy and an intermediate phenotype. The disorder is characterised by distal hyperlaxity and progressive muscle weakness, joint contractures and respiratory insufficiency. Respiratory insufficiency is attributed to chest wall contractures, scoliosis, impaired diaphragmatic function and intercostal muscle weakness...
April 2017: ERJ Open Research
https://www.readbyqxmd.com/read/28596045/comorbidity-in-chronic-fatigue-syndrome-myalgic-encephalomyelitis-a-nationwide-population-based-cohort-study
#6
Jesús Castro-Marrero, Mónica Faro, Luisa Aliste, Naia Sáez-Francàs, Natalia Calvo, Alba Martínez-Martínez, Tomás Fernández de Sevilla, Jose Alegre
BACKGROUND: Previous studies have shown evidence of comorbid conditions in chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME). OBJECTIVE: To estimate the prevalence of comorbidities and assess their associations using a nationwide population-based database of a Spanish CFS/ME cohort. METHOD: A nationally representative, retrospective, cross-sectional cohort study (2008-2015) assessed 1757 Spanish subjects who met both the 1994 Centers for Disease Control and Prevention/Fukuda definition and 2003 Canadian Criteria for CFS/ME...
September 2017: Psychosomatics
https://www.readbyqxmd.com/read/28584496/marfan-syndrome
#7
T Sivasankari, Philips Mathew, Ravi David Austin, Sakthi Devi
Marfan syndrome (MFS) is the autosomal dominant-inherited multisystem connective-tissue disorder, with a reported incidence of 1 in 10,000 individuals and equal distribution in both genders. The main clinical manifestation of this disorder consists of an exaggerated length of the upper and lower limbs, hyperlaxity, scoliosis, alterations in the cardiovascular and pulmonary systems, and atypical bone overgrowth. Orofacial manifestations such as high-arched palate, hypodontia, long narrow teeth, bifid uvula, mandibular prognathism, and temporomandibular disorders are also common...
January 2017: Journal of Pharmacy & Bioallied Sciences
https://www.readbyqxmd.com/read/28497167/results-of-arthroscopic-bankart-repair-with-hill-sachs-remplissage-for-anterior-shoulder-instability
#8
Nicolas Bonnevialle, Vadim Azoulay, Amélie Faraud, Fanny Elia, Pascal Swider, Pierre Mansat
PURPOSE: The aim of this study was to evaluate mid-term outcomes of Bankart repair with Hill-Sachs remplissage (BHSR) and to highlight prognostic factors of failure. METHODS: Thirty-four patients operated on for anterior shoulder instability with BHSR were enrolled in a prospective non-randomised study. Clinical and radiographic evaluation was performed at 1.5, three, six months and yearly thereafter. Outcome measures included Rowe and Walch-Duplay score. RESULTS: At mean follow-up of 35 months (24-63), the Rowe and Walch-Duplay scores reached respectively 92...
May 11, 2017: International Orthopaedics
https://www.readbyqxmd.com/read/28331219/intragenic-multi-exon-deletion-in-the-fbn1-gene-in-a-child-with-mildly-dilated-aortic-sinus-a-retrotransposal-event
#9
Maggie Brett, George Korovesis, Angeline H M Lai, Eileen C P Lim, Ene-Choo Tan
Marfan syndrome is an autosomal dominant disorder affecting mainly the skeletal, ocular and cardiovascular systems. Most cases are caused by mutations in the fibrillin-1 gene (FBN1), although there are some reports on deletions involving FBN1 and other additional genes. We report a male patient who was first evaluated at 4 years of age. Echocardiogram showed a mildly dilated aortic sinus. He also had a history of muscular ventral septal defect which was closed spontaneously and trivial mitral regurgitation...
July 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28217563/arthroscopic-treatment-of-the-atraumatic-shoulder-instability-a-case-series-with-two-year-follow-up-evaluation
#10
Enrico Gervasi, Enrico Sebastiani, Enrico Cautero, Alessandro Spicuzza
BACKGROUND: The purpose of this work is to evaluate the results of arthroscopic capsulolabroplasty in patients affected by atraumatic shoulder instability (ASI). METHODS: A retrospective review was performed of 10 patients (7 women and 3 men) who underwent arthroscopic treatment of symptomatic ASI. Mean age at evaluation was 27.9 (19-35) years and the mean follow-up was 23.3 (12-37) months. We evaluated recurrence rate, range of movement, apprehension and relocation tests, hyperlaxity, and sport activity...
October 2016: Muscles, Ligaments and Tendons Journal
https://www.readbyqxmd.com/read/28210640/muscle-weakness-a-misleading-presentation-in-children-with-distinctive-syndromic-entities-clinical-case-reports
#11
Ali Al Kaissi, Sergey Ryabykh, Polina Ochirova, Vladimir Kenis, Jochen G Hofstätter, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
Marked ligamentous hyperlaxity and muscle weakness/wasting associated with awkward gait are the main deficits confused with the diagnosis of myopathy. Seven children (6 boys and 1 girl with an average age of 8 years) were referred to our department because of diverse forms of skeletal abnormalities. No definitive diagnosis was made, and all underwent a series of sophisticated investigations in other institutes in favor of myopathy. We applied our methodology through the clinical and radiographic phenotypes followed by targeted genotypic confirmation...
January 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28182637/comprehensive-target-capture-next-generation-sequencing-as-a-second-tier-diagnostic-approach-for-congenital-muscular-dystrophy-in-taiwan
#12
Wen-Chen Liang, Xia Tian, Chung-Yee Yuo, Wan-Zi Chen, Tsu-Min Kan, Yi-Ning Su, Ichizo Nishino, Lee-Jun C Wong, Yuh-Jyh Jong
PURPOSE: Congenital muscular dystrophy (CMD) is a heterogeneous disease entity. The detailed clinical manifestation and causative gene for each subgroup of CMD are quite variable. This study aims to analyze the phenotypes and genotypes of Taiwanese patients with CMD as the epidemiology of CMD varies among populations and has been scantly described in Asia. METHODS: A total of 48 patients suspected to have CMD were screened and categorized by histochemistry and immunohistochemistry studies...
2017: PloS One
https://www.readbyqxmd.com/read/28003067/editorial-commentary-hip-capsule-to-repair-or-not
#13
EDITORIAL
Dean K Matsuda
Arthroscopic hip capsular repair is an area of intense interest. Basic science studies suggest that adverse changes in capsular stability/restraint may occur with capsulotomy and capsulectomy, that repair may ameliorate these changes, and, most recently, that the repaired capsule usually heals. Clinical studies suggest that in some conditions, most notably mild dysplasia, capsular repair or plication may improve short-term outcomes, but in general, the role of capsular closure is less clear. At present, perhaps a selective approach is merited, with capsular closure performed in patients with dysplasia, focal or generalized hyperlaxity, and/or increased femoral anteversion...
January 2017: Arthroscopy: the Journal of Arthroscopic & related Surgery
https://www.readbyqxmd.com/read/27990838/multiple-perforation-of-small-intestine-diverticula-in-a-patient-with-ehlers-danlos-syndrome
#14
Raúl Honrubia Lopez, Aurora Burgos García, Elena Palacios Lázaro
Ehlers-Danlos syndrome represents a group of hereditary connective tissue disorders characterized by ligamentous hyperlaxity, fragile skin and joint hypermobility. Gastrointestinal complications in this syndrome are less well known.
January 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/27816943/recessive-mutations-in-the-kinase-zak-cause-a-congenital-myopathy-with-fibre-type-disproportion
#15
Nasim Vasli, Elizabeth Harris, Jason Karamchandani, Eric Bareke, Jacek Majewski, Norma B Romero, Tanya Stojkovic, Rita Barresi, Hichem Tasfaout, Richard Charlton, Edoardo Malfatti, Johann Bohm, Chiara Marini-Bettolo, Karine Choquet, Marie-Josée Dicaire, Yi-Hong Shao, Ana Topf, Erin O'Ferrall, Bruno Eymard, Volker Straub, Gonzalo Blanco, Hanns Lochmüller, Bernard Brais, Jocelyn Laporte, Martine Tétreault
Congenital myopathies define a heterogeneous group of neuromuscular diseases with neonatal or childhood hypotonia and muscle weakness. The genetic cause is still unknown in many patients, precluding genetic counselling and better understanding of the physiopathology. To identify novel genetic causes of congenital myopathies, exome sequencing was performed in three consanguineous families. We identified two homozygous frameshift mutations and a homozygous nonsense mutation in the mitogen-activated protein triple kinase ZAK...
January 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27727051/three-dimensional-analysis-of-the-locked-position-in-patients-with-recurrent-shoulder-instability
#16
Julien Clément, Jérémie Ménard, Maxime Raison, Jennifer Dumais, Laura Dubois, Dominique M Rouleau
BACKGROUND: Although recurrent anterior shoulder instability (RASI) is a common condition in young patients, no studies to date have measured the 3-dimensional (3D) locked position of the glenohumeral joint during an anterior dislocation. Therefore, our goal was to estimate it with 3D computed tomography (CT) scans. METHODS: Patients in this prospective observational study were separated in 3 groups: normal laxity, hyperlaxity, and epilepsy. They were characterized by questionnaires (Western Ontario Shoulder Instability Index, 11-item version of the Disabilities of the Arm, Shoulder and Hand, and Beighton Laxity Score), and a CT scan revealing bipolar bone defects...
March 2017: Journal of Shoulder and Elbow Surgery
https://www.readbyqxmd.com/read/27676829/isokinetic-rehabilitation-in-the-chronic-former-instability-of-the-shoulder-for-individualized-rehabilitative-care
#17
Ludovic Humetz
OBJECTIVE: The isokinetic exploration of the shoulder seems little standardized, particularly at the time of the choice of the studied muscular groups, of the installation of the subject as well as positioning of the articulation itself. OBSERVATIONS: Rehabilitation treatment of a 17 year old patient, hyperlaxe, swimmer, in the context of a painful chronic former instability of the shoulder without osseous, muscular lesion or labrale. An isokinetic work of reinforcement of the internal rotators is carried out, into concentric of 60°/s to 240°/s, position known as of Davies modified then in decubitus dorsal of 45° to 90° of abduction...
September 2016: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/27355281/swimmer-s-shoulder-painful-shoulder-in-the-competitive-swimmer
#18
REVIEW
Elizabeth Matzkin, Kaytelin Suslavich, David Wes
Swimmer's shoulder is a broad term often used to diagnose shoulder injury in swimmers. However, research has elucidated several specific shoulder injuries that often are incurred by the competitive swimmer. Hyperlaxity, scapular dyskinesis, subacromial impingement, labral damage, os acromiale, suprascapular nerve entrapment, and glenohumeral rotational imbalances all may be included within a differential diagnosis for shoulder pain in the competitive swimmer. An understanding of the mechanics of the swim stroke, in combination with the complex static and dynamic properties of the shoulder, is essential to the comprehension and identification of the painful swimmer's shoulder...
August 2016: Journal of the American Academy of Orthopaedic Surgeons
https://www.readbyqxmd.com/read/27348394/novel-col12a1-variant-expands-the-clinical-picture-of-congenital-myopathies-with-extracellular-matrix-defects
#19
Jaya Punetha, Akanchha Kesari, Eric P Hoffman, Monika Gos, Anna Kamińska, Anna Kostera-Pruszczyk, Irena Hausmanowa-Petrusewicz, Ying Hu, Yaqun Zou, Carsten G Bönnemann, Maria JȨdrzejowska
INTRODUCTION: Mutations in the COL12A1 (collagen, type XII, alpha 1) gene have been described in a milder Bethlem-like myopathy in 6 patients from 3 families (dominant missense), and in a severe congenital form with failure to attain ambulation in 2 patients in a single pedigree (recessive loss-of-function). METHODS: We describe an 8-year-old girl of Polish origin who presented with profound hypotonia and joint hyperlaxity at birth after a pregnancy complicated by oligohydramnios and intrauterine growth retardation...
February 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/27008887/the-transcription-coactivator-asc-1-is-a-regulator-of-skeletal-myogenesis-and-its-deficiency-causes-a-novel-form-of-congenital-muscle-disease
#20
Laurianne Davignon, Claire Chauveau, Cédric Julien, Corinne Dill, Isabelle Duband-Goulet, Eva Cabet, Brigitte Buendia, Alain Lilienbaum, John Rendu, Marie Christine Minot, Agnès Guichet, Valérie Allamand, Nathalie Vadrot, Julien Fauré, Sylvie Odent, Leïla Lazaro, Jean Paul Leroy, Pascale Marcorelles, Odile Dubourg, Ana Ferreiro
Despite recent progress in the genetic characterization of congenital muscle diseases, the genes responsible for a significant proportion of cases remain unknown. We analysed two branches of a large consanguineous family in which four patients presented with a severe new phenotype, clinically marked by neonatal-onset muscle weakness predominantly involving axial muscles, life-threatening respiratory failure, skin abnormalities and joint hyperlaxity without contractures. Muscle biopsies showed the unreported association of multi-minicores, caps and dystrophic lesions...
April 15, 2016: Human Molecular Genetics
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