Read by QxMD icon Read

neuromuscular disorder

Tai-Heng Chen, Xia Tian, Pao-Lin Kuo, Hui-Ping Pan, Lee-Jun C Wong, Yuh-Jyh Jong
BACKGROUND: Fetal akinesia deformation sequence (FADS) refers to a broad spectrum of disorder with the absent fetal movement as the unifying feature. The etiology of FADS is heterogeneous and the majority remains unknown. Prenatal diagnosis of FADS due to neuromuscular origin has relied on clinical features and fetal muscle pathology, which can be unrevealing. The recent advance of next generation sequencing (NGS) can provide definitive molecular diagnosis effectively. METHODS AND RESULTS: An 18-week old fetus presented with akinesia and multiple contractures of joints...
October 20, 2016: Prenatal Diagnosis
Erin B Chapman, Jena Hansen-Honeycutt, Alan Nasypany, Russell T Baker, Jim May
BACKGROUND: Appropriate assessment and interventions for breathing patterns prior to assessment of the patient's musculoskeletal complaint may be beneficial. Breathing pattern disorders (BPDs) are remediable and influenced by biochemical, biomechanical, psychological, and/or unknown factors. The purpose of this clinical commentary is to demonstrate the integratration of a BPD assessment into a standard clinical musculoskeletal orthopedic examination. CLINICAL ASSESSMENT: The observation of a patient's breathing pattern begins when they enter the clinic, is followed by palpation and orthopedic tests, which allows for proper classification of BPDs...
October 2016: International Journal of Sports Physical Therapy
Päivi Kolu, Kari Tokola, Markku Kankaanpää, Jaana Suni
STUDY DESIGN: A cross-sectional study, part of a randomized controlled trial. OBJECTIVE: To evaluate the association of physical activity, cardiorespiratory fitness, and neuromuscular fitness with direct health-care costs and sickness-related absence among nursing personnel with nonspecific low back pain. SUMMARY OF BACKGROUND DATA: Low back pain creates a huge economic burden due to increased sick leave and use of health-care services. METHODS: Female nursing personnel with nonspecific low back pain were included (n = 219)...
October 6, 2016: Spine
Joel Wells, Jeffrey J Nepple, Karla Crook, James R Ross, Asheesh Bedi, Perry Schoenecker, John C Clohisy
BACKGROUND: Hip dysplasia represents a spectrum of complex deformities on both sides of the joint. Although many studies have described the acetabular side of the deformity, to our knowledge, little is known about the three-dimensional (3-D) head and neck offset differences of the femora of dysplastic hips. A thorough knowledge of proximal femoral anatomy is important to prevent potential impingement and improve results after acetabular reorientation. QUESTIONS/PURPOSES: (1) Are there common proximal femoral characteristics in patients with symptomatic hip dysplasia undergoing periacetabular osteotomy (PAO)? (2) Where is the location of maximal femoral head and neck offset deformity in hip dysplasia? (3) Do certain subgroups of dysplastic hips more commonly have cam-type femoral morphology? (4) Is there a relationship between hip ROM as well as impingement testing and 3-D head and neck offset deformity? METHODS: Using our hip preservation database, 153 hips (148 patients) underwent PAO from October 2013 to July 2015...
October 17, 2016: Clinical Orthopaedics and related Research
Jae W Chung, Edward Ofori, Gaurav Misra, Christopher W Hess, David E Vaillancourt
: Accurate motor performance may depend on the scaling of distinct oscillatory activity within the motor cortex and effective neural communication between the motor cortex and other brain areas. Oscillatory activity within the beta-band (13-30Hz) has been suggested to provide distinct functional roles for attention and sensorimotor control, yet it remains unclear how beta-band and other oscillatory activity within and between cortical regions is coordinated to enhance motor performance...
October 13, 2016: NeuroImage
Eman M Khedr, Gharib Fawi, Mohammed Abd-Allah Abbas, Noha Abo El-Fetoh, Ahmed F Zaki, Ayman Gamea, Ghada Al Attar
BACKGROUND: Few epidemiological studies of the prevalence of neuromuscular disorders have been undertaken. The aim of the study was to estimate the prevalence of the most common types of neuromuscular disorders in Qena governorate/Egypt. METHODS: A random sample was taken from 11 districts, involving 9303 inhabitants with 57.3% urban residents and 42.7% rural residence. Patients were diagnosed using a screening questionnaire for the diagnosis of neuromuscular disorders...
October 17, 2016: Neurological Research
S Monini, C M Iacolucci, M Di Traglia, A I Lazzarino, M Barbara
The treatment of Bell's palsy (BP), based on steroids and/or antiviral drugs, may still leave a certain percentage of affected subjects with disfiguring sequelae due to incomplete recovery. The different procedures of physical rehabilitation have not been demonstrated to play a favourable role in this disorder. The aim of the present study was to compare functional outcomes in severe cases of Bell's palsy when treated by steroids alone or by steroids accompanied by Kabat physical rehabilitation. This prospective study included 94 subjects who showed sudden facial nerve (FN) palsy with House-Brackmann grade IV or V and who were divided into two groups on the basis of the therapeutic approach: one group (a) was treated by steroids, and the other (b) received steroids in combination with physical rehabilitation...
August 2016: Acta Otorhinolaryngologica Italica
Kimberly N Harer, Pankaj J Pasricha
Chronic unexplained nausea and vomiting is a debilitating condition that dramatically decreases patient quality of life and creates diagnostic and treatment challenges for healthcare providers. Additionally, the significant overlap in symptoms between disorders such as chronic unexplained nausea and vomiting, gastroparesis, and functional dyspepsia has resulted in a blurring of diagnostic lines and added confusion to the therapeutic approach. The identified overlap in clinical symptoms also suggests a common underlying pathophysiological mechanism may drive these conditions, indicating they could possibly be part of a spectrum of gastric neuromuscular disorders instead of discrete processes...
October 8, 2016: Current Treatment Options in Gastroenterology
Jaydeep M Bhatt
Neuromuscular disorders as a group are linked by anatomy with significant differences in pathogenetic mechanisms, clinical expression, and time course of disease. Each neuromuscular disease is relatively uncommon, yet causes a significant burden of disease socioeconomically. Epidemiologic studies in different global regions have demonstrated certain neuromuscular diseases have increased incidence and prevalence rates over time. Understanding differences in global epidemiologic trends will aid clinical research and policies focused on prevention of disease...
November 2016: Neurologic Clinics
A Baumann, P O Katz
Swallowing involves complex coordination of the neuromuscular anatomy and physiology of the oropharynx and esophagus, controlled by the enteric and central nervous systems. Dysphagia is classified as either oropharyngeal or esophageal and results from mechanical or structural disturbances. Videofluoroscopy, fiberoptic endoscopic evaluation of swallowing, barium swallow, manometry, and endoscopy are common modalities utilized in diagnosis, but none is as important as a patient's history. Functional dysphagia is a diagnosis of exclusion and is based on Rome criteria...
2017: Handbook of Clinical Neurology
Thashi Chang, Judith Cossins, David Beeson
BACKGROUND: Congenital myasthenic syndromes (CMSs) occur as a result of genetic mutations that cause aberrations in structure and/or function of proteins involved in neuromuscular transmission. Acetylcholine receptor epsilon (ε) subunit (CHRNE) gene mutations account for about 30-50 % of genetically diagnosed cases. We report a rare CHRNE gene mutation in a South Asian female with CMS. CASE PRESENTATION: A 17-year-old Maldivian female presented with bilateral partial ptosis, fatigable proximal muscle weakness and slurring of speech noted since the age of 2 years...
October 7, 2016: BMC Neurology
Paulo Victor Sgobbi de Souza, Gabriel Novaes de Rezende Batistella, Valéria Cavalcante Lino, Wladimir Bocca Vieira de Rezende Pinto, Marcelo Annes, Acary Souza Bulle Oliveira
Neuromuscular junction disorders represent a wide group of neurological diseases characterized by weakness, fatigability and variable degrees of appendicular, ocular and bulbar musculature involvement. Its main group of disorders includes autoimmune conditions, such as autoimmune acquired myasthenia gravis and Lambert-Eaton syndrome. However, an important group of diseases include congenital myasthenic syndromes with a genetic and sometimes hereditary basis that resemble and mimick many of the classic myasthenia neurological manifestations, but also have different presentations, which makes them a complex clinical, therapeutic and diagnostic challenge for most clinicians...
September 2016: Arquivos de Neuro-psiquiatria
Mohamed Taha Khoufi, Ali Mrabet, Abderraouf Ben Mansour, Khaled Lamine, Mustapha Ferjani, Mondher Yedeas
Exertional heat stroke is defined as hyperthermia associated with neurological signs related to intense physical activity performed in a hot environment. This is a medical emergency and life-threatening. In this study, we investigated four cases of exertional heat stroke hospitalized at the military hospital in Tunis (Tunisia) to describe the clinical, therapeutic and preventive characteristics and factors favoring this disease. Four young soldiers, 23 to 44 years older, have developed Exertional heat stroke after Intense and prolonged exercise...
April 2016: La Tunisie Médicale
Brett M Morrison
Neuromuscular diseases are a broadly defined group of disorders that all involve injury or dysfunction of peripheral nerves or muscle. The site of injury can be in the cell bodies (i.e., amyotrophic lateral sclerosis [ALS] or sensory ganglionopathies), axons (i.e., axonal peripheral neuropathies or brachial plexopathies), Schwann cells (i.e., chronic inflammatory demyelinating polyradiculoneuropathy), neuromuscular junction (i.e., myasthenia gravis or Lambert-Eaton myasthenic syndrome), muscle (i.e., inflammatory myopathy or muscular dystrophy), or any combination of these sites...
October 2016: Seminars in Neurology
Fernando R Carvalho, Débora A Lentini-Oliveira, Lucila Bf Prado, Gilmar F Prado, Luciane Bc Carvalho
BACKGROUND: Apnoea is a breathing disorder marked by the absence of airflow at the nose or mouth. In children, risk factors include adenotonsillar hypertrophy, obesity, neuromuscular disorders and craniofacial anomalies. The most common treatment for obstructive sleep apnoea syndrome (OSAS) in childhood is adeno-tonsillectomy. This approach is limited by its surgical risks, mostly in children with comorbidities and, in some patients, by recurrence that can be associated with craniofacial problems...
October 5, 2016: Cochrane Database of Systematic Reviews
Rui Fan, Ruirui Ji, Wenxin Zou, Guoliang Wang, Hu Wang, Daniel James Penney, Jin Jun Luo, Yuxin Fan
Andersen-Tawil syndrome (ATS) is an autosomal dominant, multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias and distinctive dysmorphic facial or skeletal features. The disorder displays marked intrafamilial variability and incomplete penetrance. Myasthenia gravis (MG) is an autoimmune disorder that demonstrates progressive fatigability, in which the nicotinic acetylcholine receptor (AChR) at neuromuscular junctions is the primary autoantigen. The present study reports a rare case of a 31-year-old woman with a history of morbid obesity and periodic weakness, who presented with hemodynamic instability, cardiogenic shock and facial anomalies...
October 2016: Experimental and Therapeutic Medicine
Emma Bondy-Chorney, Tara E Crawford Parks, Aymeric Ravel-Chapuis, Bernard J Jasmin, Jocelyn Côté
In a recent issue of PLOS Genetics, we reported that the double-stranded RNA-binding protein, Staufen1, functions as a disease modifier in the neuromuscular disorder Myotonic Dystrophy Type I (DM1). In this work, we demonstrated that Staufen1 regulates the alternative splicing of exon 11 of the human Insulin Receptor, a highly studied missplicing event in DM1, through Alu elements located in an intronic region. Furthermore, we found that Staufen1 overexpression regulates numerous alternative splicing events, potentially resulting in both positive and negative effects in DM1...
2016: Rare Diseases
Merete B Speedtsberg, Sofie B Christensen, Ken Kjøller Andersen, Jesper Bencke, Bente R Jensen, Derek J Curtis
BACKGROUND: Developmental coordination disorder (DCD) is a neurodevelopmental impairment that affects approximately 6% of children in primary school age. Children with DCD are characterized by impaired postural control. It has yet to be determined what effect peripheral and central neuromuscular control has on their balance control. OBJECTIVE: The aim of this study was to investigate the underlying mechanisms to impaired postural control in children with DCD using the rambling-trembling decomposition of the center of pressure (CoP)...
September 24, 2016: Gait & Posture
John-Ih Lee, Sebastian Jander
Myasthenia gravis is the most frequent acquired disorder of neuromuscular transmission. In the majority of cases, pathogenic antibodies against components of the postsynaptic muscle endplate membrane can be detected. In recent years there have been significant advances in the pathophysiological understanding and therapy of the disease. Areas covered: PubMed searches were conducted for the term "myasthenia gravis" cross-referenced with the terms "immunology", "subgroups", "antibody", "ocular", "thymoma", "treatment" and "thymectomy"...
October 3, 2016: Expert Review of Neurotherapeutics
Vivienne Travlos, Caroline Bulsara, Shane Patman, Jenny Downs
BACKGROUND: Youth with Neuromuscular Disorders (NMD) who are wheelchair users can now survive well into adulthood if their multisystem comorbidities are prudently managed. Uptake of health behaviors may optimize their health outcomes. OBJECTIVE: To explore youths' perceptions of health, health behaviors and healthcare engagement. METHODS: This qualitative study purposefully recruited 11 youth with NMD from a concurrent, population-based study for variability of age, gender, type of NMD and their ratings of motivation and engagement...
September 27, 2016: NeuroRehabilitation
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"