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Neuromuscular joint diseases

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https://www.readbyqxmd.com/read/28400871/results-of-arthroscopic-ankle-arthrodesis-with-fixation-using-two-parallel-headless-compression-screws-in-a-heterogenic-group-of-patients
#1
Lukas Kolodziej, Boguslaw Sadlik, Sebastian Sokolowski, Andrzej Bohatyrewicz
BACKGROUND: As orthopedic surgeons become skilled in ankle arthroscopy technique and evidence -based data is supporting its use, arthroscopic ankle arthrodesis (AAA) will likely continue to increase, but stabilization methods have not been described clearly. We present a technique for two parallel 7.3-mm headless compression screws fixation (HCSs) for AAA in cases of ankle arthritis with different etiology, both traumatic and non-traumatic, including neuromuscular and inflammatory patients...
2017: Open Orthopaedics Journal
https://www.readbyqxmd.com/read/28220607/neurological-and-spinal-manifestations-of-the-ehlers-danlos-syndromes
#2
Fraser C Henderson, Claudiu Austin, Edward Benzel, Paolo Bolognese, Richard Ellenbogen, Clair A Francomano, Candace Ireton, Petra Klinge, Myles Koby, Donlin Long, Sunil Patel, Eric L Singman, Nicol C Voermans
The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin extensibility, and tissue fragility. This communication briefly reports upon the neurological manifestations that arise including the weakness of the ligaments of the craniocervical junction and spine, early disc degeneration, and the weakness of the epineurium and perineurium surrounding peripheral nerves. Entrapment, deformation, and biophysical deformative stresses exerted upon the nervous system may alter gene expression, neuronal function and phenotypic expression...
February 21, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28120097/clinical-and-radiological-outcome-of-calcaneal-lengthening-osteotomy-for-flatfoot-deformity-in-skeletally-immature-patients
#3
Lorenza Marengo, Federico Canavese, Mounira Mansour, Alain Dimeglio, François Bonnel
BACKGROUND: The purpose of this study was to evaluate the clinical, functional and radiological outcome of calcaneal lengthening osteotomy for the treatment of symptomatic flatfoot deformity in skeletally immature patients. METHODS: A retrospective review was led on 31 prospectively enrolled patients with symptomatic flatfoot. Twenty-seven out of 31 patients met the inclusion criteria, for a total of 38 operated feet. Mean age at time of surgery was 13.3 ± 2...
January 24, 2017: European Journal of Orthopaedic Surgery & Traumatology: Orthopédie Traumatologie
https://www.readbyqxmd.com/read/28113221/a-subspace-approach-to-the-structural-decomposition-and-identification-of-ankle-joint-dynamic-stiffness
#4
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
https://www.readbyqxmd.com/read/28099287/anesthetic-outcomes-of-children-with-arthrogryposis-syndromes-no-evidence-of-hyperthermia
#5
Stephen J Gleich, Michael Tien, Darrell R Schroeder, Andrew C Hanson, Randall Flick, Michael E Nemergut
BACKGROUND: Arthrogryposis syndromes are a heterogeneous group of disorders characterized by congenital joint contractures often requiring multiple surgeries during childhood to address skeletal and visceral abnormalities. Previous reports suggest that these children have increased perioperative risk, including hypermetabolic events discrete from malignant hyperthermia, difficult airway management, isolated hyperthermia, and difficult IV line placement. We sought to compare children with arthrogryposis multiplex congenita (AMC) versus the less severe, distal arthrogryposis syndromes (DAS) and to evaluate possible intraoperative hyperthermia of patients with AMC...
March 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/27893480/high-speed-resistance-training-modifies-load-velocity-and-load-power-relationships-in-parkinson-s-disease
#6
Meng Ni, Joseph F Signorile
Muscle power is a major neuromuscular factor affecting motor function and independence in patients with Parkinson's disease; and it is commonly targeted using high-speed exercise. This study examined the changes in velocities (Vpp) and percent loads (%1RMpp) at peak power, as well as load-velocity (L-V) and load-power (L-P) relationships, resulting from resistance training due to exercise choice and loading in older Parkinson's patients. Fourteen older adults with mild to moderate Parkinson's disease participated in a 12-week randomized controlled power training trial...
November 16, 2016: Journal of Strength and Conditioning Research
https://www.readbyqxmd.com/read/27881628/normative-reference-values-for-strength-and-flexibility-of-1-000-children-and-adults
#7
Marnee J McKay, Jennifer N Baldwin, Paulo Ferreira, Milena Simic, Natalie Vanicek, Joshua Burns
OBJECTIVE: To establish reference values for isometric strength of 12 muscle groups and flexibility of 13 joint movements in 1,000 children and adults and investigate the influence of demographic and anthropometric factors. METHODS: A standardized reliable protocol of hand-held and fixed dynamometry for isometric strength of ankle, knee, hip, elbow, and shoulder musculature as well as goniometry for flexibility of the ankle, knee, hip, elbow, shoulder, and cervical spine was performed in an observational study investigating 1,000 healthy male and female participants aged 3-101 years...
January 3, 2017: Neurology
https://www.readbyqxmd.com/read/27854229/increasing-role-of-titin-mutations-in-neuromuscular-disorders
#8
Marco Savarese, Jaakko Sarparanta, Anna Vihola, Bjarne Udd, Peter Hackman
The TTN gene with 363 coding exons encodes titin, a giant muscle protein spanning from the Z-disk to the M-band within the sarcomere. Mutations in the TTN gene have been associated with different genetic disorders, including hypertrophic and dilated cardiomyopathy and several skeletal muscle diseases.Before the introduction of next generation sequencing (NGS) methods, the molecular analysis of TTN has been laborious, expensive and not widely used, resulting in a limited number of mutations identified. Recent studies however, based on the use of NGS strategies, give evidence of an increasing number of rare and unique TTN variants...
August 30, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27816943/recessive-mutations-in-the-kinase-zak-cause-a-congenital-myopathy-with-fibre-type-disproportion
#9
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/27784806/contractile-function-and-motor-unit-firing-rates-of-the-human-hamstrings
#10
Eric A Kirk, Charles L Rice
Neuromuscular properties of the lower limb in health, aging, and disease are well described for major lower limb muscles comprising the quadriceps, triceps surae, and dorsiflexors, with the notable exception of the posterior thigh (hamstrings). The purpose of this study was to further characterize major muscles of the lower limb by comprehensively exploring contractile properties in relation to spinal motor neuron output expressed as motor unit firing rates (MUFRs) in the hamstrings of 11 (26.5 ± 3.8) young men...
January 1, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/27687928/bovine-spastic-paresis-a-review-of-the-genetic-background-and-perspectives-for-the-future
#11
REVIEW
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
https://www.readbyqxmd.com/read/27684565/expansion-of-the-gle1-associated-arthrogryposis-multiplex-congenita-clinical-spectrum
#12
C Smith, J S Parboosingh, K M Boycott, C G Bönnemann, J K Mah, R E Lamont, A Micheil Innes, F 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...
March 2017: Clinical Genetics
https://www.readbyqxmd.com/read/27677018/arthrogryposis-multiplex-congenita-in-an-adult-patient-cohort-what-are-the-limitations-in-activities-in-daily-life
#13
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
https://www.readbyqxmd.com/read/27620546/surgical-anatomy-of-the-knee-a-review-of-common-open-approaches
#14
REVIEW
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
https://www.readbyqxmd.com/read/27620484/peak-jump-power-reflects-the-degree-of-ambulatory-ability-in-patients-with-mitochondrial-and-other-rare-diseases
#15
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
https://www.readbyqxmd.com/read/27608443/a-subspace-approach-to-the-structural-decomposition-and-identification-of-ankle-joint-dynamic-stiffness
#16
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
https://www.readbyqxmd.com/read/27577065/what-are-the-risk-factors-for-dislocation-of-hip-bipolar-hemiarthroplasty-through-the-anterolateral-approach-a-nested-case-control-study
#17
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...
December 2016: Clinical Orthopaedics and related Research
https://www.readbyqxmd.com/read/27401940/clinical-trial-network-for-the-promotion-of-clinical-research-for-rare-diseases-in-japan-muscular-dystrophy-clinical-trial-network
#18
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...
July 11, 2016: BMC Health Services Research
https://www.readbyqxmd.com/read/27308305/systemic-inflammatory-response-and-neuromuscular-involvement-in-amyotrophic-lateral-sclerosis
#19
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
https://www.readbyqxmd.com/read/27173448/muscle-moment-arms-and-sensitivity-analysis-of-a-mouse-hindlimb-musculoskeletal-model
#20
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...
2016: Journal of Anatomy
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