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https://www.readbyqxmd.com/read/27816943/recessive-mutations-in-the-kinase-zak-cause-a-congenital-myopathy-with-fibre-type-disproportion
#1
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...
November 5, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27727051/three-dimensional-analysis-of-the-locked-position-in-patients-with-recurrent-shoulder-instability
#2
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...
October 7, 2016: 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
#3
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
#4
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
#5
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...
June 27, 2016: 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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/25900943/risk-factors-which-predispose-first-time-traumatic-anterior-shoulder-dislocations-to-recurrent-instability-in-adults-a-systematic-review-and-meta-analysis
#15
REVIEW
M Olds, R Ellis, K Donaldson, P Parmar, P Kersten
BACKGROUND: Recurrent instability following a first-time anterior traumatic shoulder dislocation may exceed 26%. We systematically reviewed risk factors which predispose this population to events of recurrence. METHODS: A systematic review of studies published before 1 July 2014. Risk factors which predispose recurrence following a first-time traumatic anterior shoulder dislocation were documented and rates of recurrence were compared. Pooled ORs were analysed using random-effects meta-analysis...
July 2015: British Journal of Sports Medicine
https://www.readbyqxmd.com/read/25832520/joint-hypermobility-anxiety-and-psychosomatics-two-and-a-half-decades-of-progress-toward-a-new-phenotype
#16
REVIEW
Antoni Bulbena, Guillem Pailhez, Andrea Bulbena-Cabré, Nuria Mallorquí-Bagué, Carolina Baeza-Velasco
The strong association between a heritable collagen condition and anxiety was an unexpected finding that we first described in 1988 at the Hospital del Mar in Barcelona. Since then, several clinical and nonclinical studies have been carried out. In this paper, after summarizing the concept and diagnosis of joint hypermobility (hyperlaxity), we review case-control studies in both directions (anxiety in joint hypermobility and joint hypermobility in anxiety disorders) as well as studies on nonclinical samples, review papers and one incidence study...
2015: Advances in Psychosomatic Medicine
https://www.readbyqxmd.com/read/25775732/effectiveness-of-mom-made-pavlik-harness-for-maintaining-reduction-of-the-hip-in-ddh
#17
Supphamard Lewsirirat, Urawit Piyapromdee, Suphasak Sathompanich
BACKGROUND: Co-operation of the parent is a major factor for successful treatment of developmental dysplasia of the hip (DDH). The commercial Pavlik harness is too expensive and the parent may not understand or refuse its use. Regarding the function of the Pavlik harness and awareness of complications, a Mom-made Pavlik harness was developed. OBJECTIVE: To evaluate the effectiveness of Mom-made Pavlik harness in maintaining the reduction ofDDH MATERIAL AND METHOD: Infants with Ortolani positive DDH, ages up to five months, treated at Maharat Nakhon Ratchasima Hospital between October 2003 and September 2012, were analyzed, retrospectively...
January 2015: Journal of the Medical Association of Thailand, Chotmaihet Thangphaet
https://www.readbyqxmd.com/read/25569537/high-recurrence-of-instability-in-adolescents-playing-contact-sports-after-arthroscopic-shoulder-stabilization
#18
Matthew F Nixon, Oisin Keenan, Lennard Funk
Sixty-one shoulders in 57 adolescents underwent primary arthroscopic shoulder stabilization for labral tears sustained during contact sports (all Stanmore type 1). Mean follow-up was 22 months, mean age 16.8 (13-18) years. Postoperatively, the median subjective improvement was 90%, median VAS pain was 0 and mean Oxford Instability Score was 26.8. Sixty-one per cent returned to preinjury sporting level. A higher than expected proportion reported recurrent dislocation, with 15% followed up for 1 year and 31% for 4 years...
May 2015: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/25567542/results-of-an-open-posterior-bone-block-procedure-for-recurrent-posterior-shoulder-instability-after-a-short-and-long-time-follow-up
#19
M Struck, M Wellmann, C Becher, M F Pastor, T Smith
PURPOSE: The aim of the present study was to analyse and compare the clinical and radiological results after open posterior bone block procedure at long- (LT) and short-term (ST) follow-up. The hypothesis was that placement of a bone block at the posterior glenoid rim in a technique of extending the glenoid surface will create permanent joint stability even in cases with hyperlaxity without a clinically relevant loss of motion or increase in osteoarthritis. METHODS: Fifteen consecutive shoulders with recurrent posterior dislocation were evaluated clinically and radiologically...
February 2016: Knee Surgery, Sports Traumatology, Arthroscopy: Official Journal of the ESSKA
https://www.readbyqxmd.com/read/25524970/a-specialized-rehabilitation-approach-improves-mobility-in-children-with-osteogenesis-imperfecta
#20
H Hoyer-Kuhn, O Semler, C Stark, N Struebing, O Goebel, E Schoenau
OBJECTIVE: Osteogenesis imperfecta (OI) is a rare disease leading to recurrent fractures, hyperlaxicity of ligaments, short stature and muscular weakness. Physiotherapy is one important treatment approach. The objective of our analysis was to evaluate the effect of a new physiotherapy approach including side alternating whole body vibration on motor function in children with OI. METHODS: In a retrospective analysis data of 53 children were analyzed. The 12 months approach included 6 months of side alternating whole body vibration training, concomitant physiotherapy, resistance training, treadmill training and 6 months follow up...
December 2014: Journal of Musculoskeletal & Neuronal Interactions
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