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Neuromuscular joint diseases

Victoria Goeckmann, Sophie Rothammer, Ivica Medugorac
Bovine spastic paresis (BSP) is a sporadic, progressive neuromuscular disease that is thought to affect all breeds of cattle. The disease manifests as a unilateral or bilateral hyperextension of the hind limb due to increased muscle tone or permanent spasm of mainly the gastrocnemius and/or the quadriceps muscle. Clinical signs only appear in rising, standing and moving animals, which is an important diagnostic feature. Although several medical treatments have been described, surgical procedures such as neurectomy or tenectomy are generally indicated...
October 2016: Veterinary Journal
Christopher Smith, Jillian S Parboosingh, Kym M Boycott, Carsten G Bönnemann, Jean K Mah, Ryan E Lamont, A Micheil Innes, Francois P Bernier
Mutations in GLE1 cause two recessive subtypes of Arthrogryposis Multiplex Congenita (AMC), a condition characterized by joint contractures at birth, and all previously reported patients died in the perinatal period. GLE1 related AMC has been almost exclusively reported in the Finnish population and is caused by a relatively common pathogenic splicing mutation in that population. Here, we report two non-Finnish brothers with novel compound heterozygous splicing mutations in GLE1, one of whom has survived to 12 years of age...
September 29, 2016: Clinical Genetics
Shenhao Dai, Marie Jaeger, Pierre Simon Jouk, Dominic Pérennou, Klaus Dieterich
OBJECTIVE: Arthrogryposis multiplex congenita (AMC) is a clinical diagnosis characterized by the presence of at least two joint contractures at birth. Causes of AMC are numerous involving CNS, neuromuscular system, connective and bone tissue. This study is the first to describe disability patterns of a cohort of adults with AMC. MATERIALS/PATIENTS AND METHODS: Thirty-nine patients (age 33.8±11.5 years; 23 females) underwent between 2010 and 2016 a 4 day evaluation in the PMR ward during the multidisciplinary consultations for AMC at the Reference Centre of Congenital Anomalies in Grenoble: 25 with amyoplasia, 8 with distal arthrogryposis (DA), and 6 with other atypical diseases...
September 2016: Annals of Physical and Rehabilitation Medicine
Blaine T Manning, Rachel M Frank, Nathan G Wetters, Bernard R Bach, Aaron G Rosenberg, Brett R Levine
Knee-related complaints are among the most commonly encountered conditions by orthopaedic surgeons. Knee pathology varies widely and includes arthritis, deformities, fractures, infections, neuromuscular disorders, oncologic diseases, and soft-tissue injury. While nonoperative treatment modalities (activity modification, medications, injections, and physical therapy) are typically used as primary interventions, surgical treatment may ultimately become necessary. The purpose of this review is to discuss the most common open approaches to the knee, with an emphasis on surgically relevant anatomy for each approach...
September 2016: Bulletin of the Hospital for Joint Diseases
Christopher Newell, Barbara Ramage, Alberto Nettel-Aguirre, Ion Robu, Aneal Khan
Metabolic diseases that lead to neuromuscular, bone, and joint involvement can reduce ambulation and quality of life. Using jumping mechanography, we developed a novel assessment, peak jump power (PJP), and related this to ambulatory ability in patients either having a known or suspected underlying rare disease. From adults and children, we recruited 88 healthy controls and 115 patients (61 with mitochondrial disease and 54 with another diagnosis). Patients were categorized as having no complaints of weakness or ambulation (ambulatory competent; AC), weakness but able to ambulate without aids (ambulatory weakness; AW), or not able to ambulate without aids such as a walker, cane, or wheelchair (ambulatory assistance; AA)...
September 13, 2016: JIMD Reports
Seyed Kian Jalaleddini, Ehsan Sobhani Tehrani, Robert Kearney
OBJECTIVE: The purpose of this paper is to present a Structural Decomposition SubSpace (SDSS) method for decomposition of the joint torque to intrinsic, reflexive and voluntary torques and identification of joint dynamic stiffness. METHODS: Firstly, it formulates a novel state-space representation for the joint dynamic stiffness modelled by a parallel-cascade structure with a concise parameter set that provides a direct link between the state-space representation matrices and the parallel-cascade parameters...
August 31, 2016: IEEE Transactions on Bio-medical Engineering
Lianhua Li, Jixin Ren, Jia Liu, Hao Wang, Qinghua Sang, Zhi Liu, Tiansheng Sun
BACKGROUND: Hip dislocation after treatment of a femoral neck fracture with a hemiarthroplasty remains an important problem in the treatment of hip fractures, but the associations between patient factors and surgical factors, and how these factors contribute to dislocation in patients who have undergone bipolar hemiarthroplasty through an anterolateral approach for femoral neck fracture currently are only poorly characterized. QUESTIONS/PURPOSES: We evaluated patients with bipolar hemiarthroplasty dislocation after surgery for femoral neck fracture treated through an anterolateral approach and asked: (1) What are the frequency, characteristics, and risk factors of bipolar hemiarthroplasty dislocations? (2) What are the frequency, characteristics, and risk factors of bipolar hemiarthroplasty dissociations? METHODS: A review of hospital records for patients who underwent bipolar hip hemiarthroplasty for femoral neck fracture at one hospital between July 2004 and August 2014 was conducted...
August 30, 2016: Clinical Orthopaedics and related Research
Reiko Shimizu, Katsuhisa Ogata, Akemi Tamaura, En Kimura, Maki Ohata, Eri Takeshita, Harumasa Nakamura, Shin'ichi Takeda, Hirofumi Komaki
BACKGROUND: Duchenne muscular dystrophy (DMD) is the most commonly inherited neuromuscular disease. Therapeutic agents for the treatment of rare disease, namely "orphan drugs", have recently drawn the attention of researchers and pharmaceutical companies. To ensure the successful conduction of clinical trials to evaluate novel treatments for patients with rare diseases, an appropriate infrastructure is needed. One of the effective solutions for the lack of infrastructure is to establish a network of rare diseases...
2016: BMC Health Services Research
Ching-Hua Lu, Kezia Allen, Felicia Oei, Emanuela Leoni, Jens Kuhle, Timothy Tree, Pietro Fratta, Nikhil Sharma, Katie Sidle, Robin Howard, Richard Orrell, Mark Fish, Linda Greensmith, Neil Pearce, Valentina Gallo, Andrea Malaspina
OBJECTIVE: To evaluate the combined blood expression of neuromuscular and inflammatory biomarkers as predictors of disease progression and prognosis in amyotrophic lateral sclerosis (ALS). METHODS: Logistic regression adjusted for markers of the systemic inflammatory state and principal component analysis were carried out on plasma levels of creatine kinase (CK), ferritin, and 11 cytokines measured in 95 patients with ALS and 88 healthy controls. Levels of circulating biomarkers were used to study survival by Cox regression analysis and correlated with disease progression and neurofilament light chain (NfL) levels available from a previous study...
August 2016: Neurology® Neuroimmunology & Neuroinflammation
James P Charles, Ornella Cappellari, Andrew J Spence, Dominic J Wells, John R Hutchinson
Musculoskeletal modelling has become a valuable tool with which to understand how neural, muscular, skeletal and other tissues are integrated to produce movement. Most musculoskeletal modelling work has to date focused on humans or their close relatives, with few examples of quadrupedal animal limb models. A musculoskeletal model of the mouse hindlimb could have broad utility for questions in medicine, genetics, locomotion and neuroscience. This is due to this species' position as a premier model of human disease, having an array of genetic tools for manipulation of the animal in vivo, and being a small quadruped, a category for which few models exist...
October 2016: Journal of Anatomy
Martha R C Bhattacharya, Stefanie Geisler, Sara K Pittman, Ryan A Doan, Conrad C Weihl, Jeffrey Milbrandt, Aaron DiAntonio
UNLABELLED: Complex nervous systems achieve proper connectivity during development and must maintain these connections throughout life. The processes of axon and synaptic maintenance and axon degeneration after injury are jointly controlled by a number of proteins within neurons, including ubiquitin ligases and mitogen activated protein kinases. However, our understanding of these molecular cascades is incomplete. Here we describe the phenotype resulting from mutation of TMEM184b, a protein identified in a screen for axon degeneration mediators...
April 27, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
James P Charles, Ornella Cappellari, Andrew J Spence, John R Hutchinson, Dominic J Wells
Mice are one of the most commonly used laboratory animals, with an extensive array of disease models in existence, including for many neuromuscular diseases. The hindlimb is of particular interest due to several close muscle analogues/homologues to humans and other species. A detailed anatomical study describing the adult morphology is lacking, however. This study describes in detail the musculoskeletal geometry and skeletal muscle architecture of the mouse hindlimb and pelvis, determining the extent to which the muscles are adapted for their function, as inferred from their architecture...
2016: PloS One
Håvard Torvik Gotaas, Geir Olve Skeie, Nils Erik Gilhus
The aim was to examine potential joint disease mechanisms for myasthenia gravis (MG) and amyotrophic lateral sclerosis (ALS) through the examination of long-term patient cohorts for comorbidity. Recent studies support early involvement of the neuromuscular junction in ALS patients with subsequent degeneration of motor neurons. Medical records at Haukeland University Hospital from 1987 to 2012 were examined for International Classification of Diseases diagnostic codes for MG and ALS. Sera were re-tested for antibodies to acetylcholine receptor, titin, MuSK and GM1...
June 2016: Neuromuscular Disorders: NMD
Sherif Galal
UNLABELLED: Subtrochanteric femoral fractures in children are uncommon and have received limited attention in the literature. Its treatment is controversial, and different options are available: traction, spica casting, internal fixation and external fixation. The aim of this study is to present our results with external fixation of subtrochanteric femoral fractures in children using Ilizarov frame. Between January 2012 and January 2014, 14 patients with closed subtrochanteric femoral fractures were treated in Cairo University School of Medicine Teaching Hospital...
August 2016: Strategies in Trauma and Limb Reconstruction
Allan Villadsen
No abstract text is available yet for this article.
April 2016: Danish Medical Journal
Diana C Sanchez-Ramirez, Bart Malfait, Isabel Baert, Marike van der Leeden, Jaap van Dieën, Willem F Lems, Joost Dekker, Frank P Luyten, Sabine Verschueren
BACKGROUND: To compare the knee joint kinematics, kinetics and EMG activity patterns during a stepping-down task in patients with knee osteoarthritis (OA) with control subjects. METHODS: 33 women with knee OA (early OA, n=14; established OA n=19) and 14 female control subjects performed a stepping-down task from a 20cm step. Knee joint kinematics, kinetics and EMG activity were recorded on the stepping-down leg during the loading phase. RESULTS: During the stepping-down task patients with established knee OA showed greater normalized medial hamstrings activity (p=0...
June 2016: Knee
Lorraine H De Souza, Andrew O Frank
PURPOSE: To describe the clinical features of electric powered indoor/outdoor wheelchair (EPIOC) users with rare diseases (RD) impacting on EPIOC provision and seating. METHOD: Retrospective review by a consultant in rehabilitation medicine of electronic and case note records of EPIOC recipients with RDs attending a specialist wheelchair service between June 2007 and September 2008. Data were systematically extracted, entered into a database and analysed under three themes; demographic, diagnostic/clinical (including comorbidity and associated clinical features (ACFs) of the illness/disability) and wheelchair factors...
August 2016: Disability and Rehabilitation
Brian Horsak, David Artner, Arnold Baca, Barbara Pobatschnig, Susanne Greber-Platzer, Stefan Nehrer, Barbara Wondrasch
BACKGROUND: Childhood obesity is one of the most critical and accelerating health challenges throughout the world. It is a major risk factor for developing varus/valgus misalignments of the knee joint. The combination of misalignment at the knee and excess body mass may result in increased joint stresses and damage to articular cartilage. A training programme, which aims at developing a more neutral alignment of the trunk and lower limbs during movement tasks may be able to reduce knee loading during locomotion...
2015: Trials
I Faizullin, E Faizullina
BACKGROUND: Ankle sprain is a medical condition when ankle ligaments are totally or partially torn. The primary cause of ankle sprain is sharp movements like turning or rolling the foot [1]. The ankle sprain needs to be treated right after the trauma, because if not treated it could lead to decreased stability of the ankle joint and lead to chronic ankle instability, which is characterized by increased risk of the ankle sprain [2] . We suppose that rehabilitation after the ankle sprain could significantly increase the performance of sportsmen...
2015: International Journal of Risk & Safety in Medicine
G I Safiullina, A A Safiullina
BACKGROUND: Tics are diverse in nature inappropriate movements or vocalizations. They significantly degrade patients' quality of life, lead to social difficulties, and disturbance of learning especially during exacerbations. The prevalence of tics among children ranges from 4% to 24%, thus emphasizing the relevance of the problem. OBJECTIVE: To study clinical and electrophysiological features of tics in children with development of new treatment methods. METHODS: We conducted a comprehensive clinical and electrophysiological examination of 50 patients with tics, aged 5 to 15 years...
2015: International Journal of Risk & Safety in Medicine
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