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neuro muscular disorders

Aude Paquet, Bertrand Olliac, Manuel-Pierre Bouvard, Bernard Golse, Laurence Vaivre-Douret
BACKGROUND: Altered motor performance has been described in Autism Spectrum Disorders (ASD) with disturbances in walking; posture, coordination, or arm movements, but some individuals with ASD show no impairment of motor skills. The neuro-developmental processes that underpin the performance of neuro-psychomotor functions have not been widely explored, nor is it clear whether there are neuro-psychomotor functions specifically affected in ASD. Our objective was to focus on the semiology of motor disorders among children with ASD using a neuro-developmental assessment tool...
2016: Frontiers in Psychology
Alessandro Sindoni, Carmelo Rodolico, Maria Angela Pappalardo, Simona Portaro, Salvatore Benvenga
Abnormalities in thyroid function are common endocrine disorders that affect 5-10 % of the general population, with hypothyroidism occurring more frequently than hyperthyroidism. Clinical symptoms and signs are often nonspecific, particularly in hypothyroidism. Muscular symptoms (stiffness, myalgias, cramps, easy fatigability) are mentioned by the majority of patients with frank hypothyroidism. Often underestimated is the fact that muscle symptoms may represent the predominant or the only clinical manifestation of hypothyroidism, raising the issue of a differential diagnosis with other causes of myopathy, which sometimes can be difficult...
December 2016: Reviews in Endocrine & Metabolic Disorders
Laxmikanth Kollipara, Stephan Buchkremer, Joachim Weis, Eva Brauers, Mareike Hoss, Stephan Rütten, Pablo Caviedes, René P Zahedi, Andreas Roos
Studying (neuro)muscular disorders is a major topic in biomedicine with a demand for suitable model systems. Continuous cell culture (in vitro) systems have several technical advantages over in vivo systems and became widely used tools for discovering physiological/pathophysiological mechanisms in muscle. In particular, myoblast cell lines are suitable model systems to study complex biochemical adaptations occurring in skeletal muscle and cellular responses to altered genetic/environmental conditions. Whereas most in vitro studies use extensively characterized murine C2C12 cells, a comprehensive description of an equivalent human cell line, not genetically manipulated for immortalization, is lacking...
March 4, 2016: Journal of Proteome Research
Uluç Pamuk, Can A Yucesoy
Kinesio taping (KT) is widely used in the treatment of sports injuries and various neuro-musculoskeletal disorders. However, it is considered as selectively effective on targeted tissues and its mechanical effects have not been quantified objectively. Ascribed to continuity of muscular and connective tissues, mechanical loading imposed can have widespread heterogeneous effects. The aim was to characterize the mechanical effects of KT objectively and to test the hypotheses that KT causes acutely, local deformations not necessarily (I) in agreement with tape adhering direction and (II) limited to the directly targeted tissues...
December 16, 2015: Journal of Biomechanics
Mira M Wouters, Maria Vicario, Javier Santos
Functional gastrointestinal disorders (FGIDs) are characterized by chronic complaints arising from disorganized brain-gut interactions leading to dysmotility and hypersensitivity. The two most prevalent FGIDs, affecting up to 16-26% of worldwide population, are functional dyspepsia and irritable bowel syndrome. Their etiopathogenic mechanisms remain unclear, however, recent observations reveal low-grade mucosal inflammation and immune activation, in association with impaired epithelial barrier function and aberrant neuronal sensitivity...
January 2016: Gut
L Iaccarino, E Pegoraro, L Bello, S Bettio, E Borella, L Nalotto, C Semplicini, G Sorarù, A Ghirardello, A Doria
Idiopathic inflammatory myopathies (IIM) are a group of diseases characterized by inflammation of the skeletal muscle. Weakness, mainly affecting the proximal muscles, is the cardinal muscular symptom in IIM. In patients with dermatomyositis, peculiar skin lesions are observed. The assessment of patients with IIM includes clinical and laboratory evaluation, and clinimetric measurements. Different tools have been proposed to measure muscular and extramuscular disease activity and damage in patients with IIM...
December 2014: Auto- Immunity Highlights
B M Frey, C Gassner, H H Jung
Multisystem deterioration occurs mainly in older individuals and may be related to physiological tissue degeneration. However, genetic predisposition may be unmasked by inappropriate functional and structural system deficiencies. McLeod syndrome (MLS) is a rare, multisystem disease which is X-chromosomal inherited and belongs to the neuroacanthocytosis syndromes (NAS). The main clinical manifestations contain progressive neuro-psychiatric and cognitive deterioration, choreatic movement disorder, as well as myopathy, sensory motor axonal neuropathy and cardiomyopathy...
June 2015: Transfusion and Apheresis Science
Caroline Teulier, Do Kyeong Lee, Beverly D Ulrich
In this paper we focus on how a developmental perspective on plasticity in the control of human movement can promote early therapy and improve gait acquisition in infants with developmental disabilities. Current knowledge about stepping development in healthy infants across the first year of life highlights strong plasticity, both in behavioral outcome and in underlying neuro-muscular activation. These data show that stepping, like other motor skills, emerges from the interaction between infant's maturation and the environment...
May 2015: Developmental Psychobiology
Alfredo J Lucendo, Ana Belén Friginal-Ruiz
BACKGROUND: Numerous disorders impairing or diminishing a patient's ability to swallow may benefit from a PEG tube placement. This is considered the elective feeding technique if a functional digestive system is present. METHODS: A PubMed-based search restricted to the English literature from the last 20 years was conducted. References in the results were also reviewed to identify potential sources of information. RESULTS: PEG feeding has consistently demonstrated to be more effective and safe than nasogastric tube feeding, having also replaced surgical and radiological gastrostomy techniques for long term feeding...
December 2014: Revista Española de Enfermedades Digestivas
B Tarakji, N Ashok, R Alakeel, Sn Azzeghaibi, A Umair, S Darwish, Rs Mahmoud, E Elkhatat
Hepatitis B vaccine has been administered in children and adults routinely to reduce the incidence of the disease. Even though, hepatitis B vaccine is considered as highly safe, some adverse reactions have been reported. A literature search was carried out in PubMed, accessed via the National Library of Medicine PubMed interface, searching used the following keywords: Hepatitis B vaccine and complications from 1980 to 2014. A total of 1147 articles were obtained out of which articles, which discuss the complications occurring orally or occurring elsewhere in the body, which have the potential to manifest orally after hepatitis B vaccination were selected...
November 2014: Annals of Medical and Health Sciences Research
Jon Ambæk Durhuus, Claus Desler, Lene Juel Rasmussen
The primary role of mitochondria was long considered to be production of cellular energy. However, as the understanding of mitochondria in disease is ever expanding, so is their additional function for a healthy organism. Mitochondrial dysfunction is linked to a range of pathologies, including cancer, neurodegenerative disorders, premature aging, diabetes and muscular diseases. Mitochondrial diseases can be hard to diagnose and treat and, therefore, interdisciplinary research and communication are important...
January 2015: Mitochondrion
Manisha Goyal, Sunita Bijarnia-Mahay, Stephen Kingsmore, Emily Farrow, Carol Saunders, Renu Saxena, Ishwar C Verma
Infantile Neuro axonal Dystrophy (INAD), is a rare inherited neurological disorder which affects nerve axons causing progressive loss of mental skills, muscular control and vision. The authors present a case of 5.8-y-old girl with INAD who was diagnosed after Next Generation Sequencing (NGS). She was born to a non-consanguineous couple and presented with hypotonia, developmental delay followed by neuroregression and nystagmus after 2 years of age. On examination, bilateral horizontal nystagmus and normal head circumference were noted...
May 2015: Indian Journal of Pediatrics
H Correia, B Pérez, B Arnold, Alex W K Wong, J S Lai, M Kallen, D Cella
INTRODUCTION: The quality of life in neurological disorders (Neuro-QoL) measurement system is a 470-item compilation of health-related quality of life domains for adults and children with neurological disorders. It was developed and cognitively debriefed in English and Spanish, with general population and clinical samples in the USA. This paper describes the Spanish translation and linguistic validation process. METHODS: The translation methodology combined forward and back-translations, multiple reviews, and cognitive debriefing with 30 adult and 30 pediatric Spanish-speaking respondents in the USA...
March 2015: Quality of Life Research
F Espín, L Rofes, O Ortega, P Clavé, D Gallego
BACKGROUND: Neuro-transmission impairment could be associated to motility changes observed in patients with diverticular disease. Therefore, the objective was to characterize the inhibitory neuro-muscular transmission and gene expression changes of the enteric inhibitory pathways in patients with diverticulosis (DS). METHODS: Circular muscle strips from sigmoid colon of patients with DS and controls were studied using the organ bath technique to evaluate spontaneous contractility and enteric motor neurons stimulated by electrical field and qRT-PCR to assess the expression of nNOS, iNOS, P2Y1 R and PGP9...
October 2014: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
Andrei Sibaev, Birol Yuece, Hans Dieter Allescher, Dieter Saur, Martin Storr, Manfred Kurjak
BACKGROUND: Endocannabinoids (EC) and the cannabinoid-1 (CB1) receptor are involved in the regulation of motility in the gastrointestinal (GI) tract. However, the underlying physiological mechanisms are not completely resolved. The purpose of this work was to study the physiological influence of the endocannabinoid anandamide, the putative endogenous CB1 active cannabinoid, and of the CB1 receptor on ascending peristaltic activity and to identify the involved neuro-neuronal, neuro-muscular and electrophysiological mechanisms...
April 2014: Pharmacological Reports: PR
Marat Alexandrovich Mukhamedyarov, Evgeniy Mikhailovich Volkov, Dilyara Fanisovna Khaliullina, Pavel Nikolaevich Grigoryev, Andrey Lvovich Zefirov, András Palotás
Alzheimer's disease (AD) is characterized by memory decline, but is often associated with non-cognitive symptoms, including muscular dysfunction. In the majority of cases these motor disturbances are seen when other neuro-degenerative disorders such as Parkinson's disease overlap dementia, however these can also be directly related to AD itself. Although the patho-mechanism remains largely unclear, β-amyloid peptide (βAP) is thought to be a key role-player in both the brain and periphery. Here we studied the electro-genesis of skeletal muscle fibers in a mouse transgenic AD model...
January 2014: Neurochemistry International
F X Glocker, U G Berninger
In this society with an ever increasing number of the elderly there is an increasing number of causes of a bent spine syndrome (camptocormia/dropped head syndrome). The causes include neurological, neuro-orthopedic, rheumatological and psychiatric disorders. Parkinson's disease, dystonia and neuromuscular diseases (motor neuron disease, myositis and muscular dystrophy) with weakness of the axial muscles may result in bent spine syndrome and is often combined with a dropped head. Disc herniation, hypertrophic spondylosis or pseudospondylolisthesis with spinal narrowing may lead to an abnormal flexion of the trunk...
August 2013: Der Nervenarzt
Anna L Chapman, Ellen J Bennett, Tennore M Ramesh, Kurt J De Vos, Andrew J Grierson
Charcot-Marie-Tooth disease (CMT) represents a group of neurodegenerative disorders typically characterised by demyelination (CMT1) or distal axon degeneration (CMT2) of motor and sensory neurons. The majority of CMT2 cases are caused by mutations in mitofusin 2 (MFN2); an essential gene encoding a protein responsible for fusion of the mitochondrial outer membrane. The mechanism of action of MFN2 mutations is still not fully resolved. To investigate a role for loss of Mfn2 function in disease we investigated an ENU-induced nonsense mutation in zebrafish MFN2 and characterised the phenotype of these fish at the whole organism, pathological, and subcellular level...
2013: PloS One
Sree Harsha Mandava, Wayne J G Hellstrom
Disorders of ejaculation are the most common form of sexual dysfunction. The ejaculatory reflex consists of two phases: emission and expulsion. Premature ejaculation (PE) can arise from overactivity of the smooth muscles responsible for ejaculation. On the other side of the spectrum, delayed ejaculation occurs when an individual is unable to either reach orgasm within an adequate time frame or experiences no ejaculation. While premature ejaculation and to a lesser degree delayed ejaculation have been recognized for quite some time, no FDA approved treatment has been developed...
September 2013: Medical Hypotheses
Adriana Sarah Nica, Consuela Monica Brailescu, Rodica Gabriela Scarlet
In the last decade, Virtual Reality has encountered a continuous development concerning medical purposes and there are a lot of devices based on the classic "cyberglove" concept that are used as new therapeutic method for upper limb pathology, especially neurologic problems [1;2;3]. One of the VR devices is Pablo (Tyromotion), with very sensitive sensors that can measure the hand grip strenght and the pinch force, also the ROM (range of motion) for all the joints of the upper limb (shoulder, elbow, wrist) and offering the possibility of interactive games based on Virtual Reality concept with application in occupational therapy programs...
2013: Studies in Health Technology and Informatics
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