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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
#1
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...
March 23, 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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/26829900/aldh18a1-related-cutis-laxa-syndrome-with-cyclic-vomiting
#13
Fumihito Nozaki, Takashi Kusunoki, Nobuhiko Okamoto, Yuto Yamamoto, Fuyuki Miya, Tatsuhiko Tsunoda, Kenjiro Kosaki, Tomohiro Kumada, Minoru Shibata, Tatsuya Fujii
Cutis laxa (CL) syndromes are connective tissue disorders characterized by redundant, sagging, inelastic and wrinkled skin, with organ involvement. Here, we describe a patient with ALDH18A1-related CL who developed cyclic vomiting. The patient was a 12-year-old boy who presented with poor postnatal growth, hypotonia, short stature, joint hyperlaxity, microcephaly, strabismus, bilateral cataracts, facial dysmorphism and severe mental retardation. Bone radiographs showed osteopenia and osteoporosis, and magnetic resonance angiography showed marked kinking and tortuosity of the brain vessels...
August 2016: Brain & Development
https://www.readbyqxmd.com/read/26802438/adult-onset-respiratory-insufficiency-scoliosis-and-distal-joint-hyperlaxity-in-patients-with-multiminicore-disease-due-to-novel-megf10-mutations
#14
Teerin Liewluck, Margherita Milone, Xia Tian, Andrew G Engel, Nathan P Staff, Lee-Jun Wong
INTRODUCTION: Multiminicore disease is a congenital myopathy characterized pathologically by the presence of multiple minicore structures in the sarcoplasm. Mutations in the selenoprotein N1-encoding gene (SEPN1) and ryanodine receptor 1-encoding gene (RYR1) are responsible for half of the reported cases. Mutations in multiple epidermal growth factor-like domains 10-encoding gene (MEGF10) have been identified only recently in a few patients with antenatal to infantile-onset myopathy, with and without minicore pathology...
June 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/26775746/open-inferior-capsular-shift-for-multidirectional-shoulder-instability-in-adolescents-with-generalized-ligamentous-hyperlaxity-or-ehlers-danlos-syndrome
#15
Patrick Vavken, Frances A Tepolt, Mininder S Kocher
BACKGROUND: The objective of this study was to assess the outcome of open inferior capsular shift for multidirectional shoulder instability in patients with generalized ligamentous hyperlaxity or Ehlers-Danlos syndrome. METHODS: Data were obtained for 18 open inferior capsular shift surgeries in 15 adolescent patients with generalized ligamentous hyperlaxity or Ehlers-Danlos syndrome with a mean follow-up of 7.5 years. End points were subjective clinical outcome (pain, stability, satisfaction, return to sport), objective clinical outcome (recurrence, complications), and functional outcome scores (American Shoulder and Elbow Surgeons, 11-item version of the Disabilities of Arm, Shoulder and Hand)...
June 2016: Journal of Shoulder and Elbow Surgery
https://www.readbyqxmd.com/read/26198057/clinical-outcomes-following-revision-anterior-shoulder-arthroscopic-capsulolabral-stabilization
#16
Jason J Shin, Randy Mascarenhas, Anish V Patel, Adam B Yanke, Gregory P Nicholson, Brian J Cole, Anthony A Romeo, Nikhil N Verma
INTRODUCTION: Traditionally surgeons have treated failed shoulder instability with open capsulolabral repair. Despite improved instrumentation, technique and familiarity in shoulder arthroscopy, few studies have reported the outcomes of arthroscopic revision shoulder instability repair. The purpose of this study was to assess clinical outcomes in patients following revision shoulder arthroscopic anterior capsulolabral stabilization. MATERIALS AND METHODS: Sixty-two patients (63 shoulders) with failure of primary instability repairs were treated with revision arthroscopic anterior shoulder stabilization at a mean follow-up of 46...
November 2015: Archives of Orthopaedic and Trauma Surgery
https://www.readbyqxmd.com/read/26189493/first-de-novo-kcnd3-mutation-causes-severe-kv4-3-channel-dysfunction-leading-to-early-onset-cerebellar-ataxia-intellectual-disability-oral-apraxia-and-epilepsy
#17
Katrien Smets, Anna Duarri, Tine Deconinck, Berten Ceulemans, Bart P van de Warrenburg, Stephan Züchner, Michael Anthony Gonzalez, Rebecca Schüle, Matthis Synofzik, Nathalie Van der Aa, Peter De Jonghe, Dineke S Verbeek, Jonathan Baets
BACKGROUND: Identification of the first de novo mutation in potassium voltage-gated channel, shal-related subfamily, member 3 (KCND3) in a patient with complex early onset cerebellar ataxia in order to expand the genetic and phenotypic spectrum. METHODS: Whole exome sequencing in a cerebellar ataxia patient and subsequent immunocytochemistry, immunoblotting and patch clamp assays of the channel were performed. RESULTS: A de novo KCND3 mutation (c...
2015: BMC Medical Genetics
https://www.readbyqxmd.com/read/26137181/the-hyperflexible-hip-managing-hip-pain-in-the-dancer-and-gymnast
#18
Alexander E Weber, Asheesh Bedi, Lisa M Tibor, Ira Zaltz, Christopher M Larson
CONTEXT: Dance, gymnastics, figure skating, and competitive cheerleading require a high degree of hip range of motion. Athletes who participate in these sports use their hips in a mechanically complex manner. EVIDENCE ACQUISITION: A search of the entire PubMed database (through December 2013) and additional searches of the reference lists of pertinent articles. STUDY DESIGN: Systematic review. LEVEL OF EVIDENCE: Level 3...
July 2015: Sports Health
https://www.readbyqxmd.com/read/26091933/assessment-of-clinical-outcome-of-percutaneous-needle-quadriceps-tenotomy-in-the-treatment-of-congenital-knee-dislocation
#19
Sandeep Patwardhan, Kunal Shah, Ashok Shyam, Parag Sancheti
PURPOSE: Treatment of congenital knee dislocation (CDK) depends on the severity and flexibility of the deformity. Various modalities of treatment ranging from serial cast, open quadricepsplasty and minimally invasive quadricepsplasty have been described. We describe percutaneous needle quadriceps tenotomy for treatment of flexible CDK and present our result of retrospective case series. METHODS: This was a retrospective study of 12 patients (20 knees) with flexible CDK...
August 2015: International Orthopaedics
https://www.readbyqxmd.com/read/26045620/noninjured-knees-of-patients-with-noncontact-acl-injuries-display-higher-average-anterior-and-internal-rotational-knee-laxity-compared-with-healthy-knees-of-a-noninjured-population
#20
Caroline Mouton, Daniel Theisen, Tim Meyer, Hélène Agostinis, Christian Nührenbörger, Dietrich Pape, Romain Seil
BACKGROUND: Excessive physiological anterior and rotational knee laxity is thought to be a risk factor for noncontact anterior cruciate ligament (ACL) injuries and inferior reconstruction outcomes, but no thresholds have been established to identify patients with increased laxity. PURPOSE: (1) To determine if the healthy contralateral knees of ACL-injured patients have greater anterior and rotational knee laxity, leading to different laxity profiles (combination of laxities), compared with healthy control knees and (2) to set a threshold to help discriminate anterior and rotational knee laxity between these groups...
August 2015: American Journal of Sports Medicine
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