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neuro muscular disorders

Amit Acharyya, Pranit N Jadhav, Valentina Bono, Koushik Maharatna, Ganesh R Naik
BACKGROUND AND OBJECTIVE: EEG is a non-invasive tool for neuro-developmental disorder diagnosis and treatment. However, EEG signal is mixed with other biological signals including Ocular and Muscular artifacts making it difficult to extract the diagnostic features. Therefore, the contaminated EEG channels are often discarded by the medical practitioners which may result in less accurate diagnosis. Many existing methods require reference electrodes, which will create discomfort to the patient/children and cause hindrance to the diagnosis of the neuro-developmental disorder and Brain Computer Interface in the pervasive environment...
May 2018: Computer Methods and Programs in Biomedicine
David Díaz, Marina Piquer-Gil, Javier Sánchez Recio, María Magdalena Martínez-Losa, José Ramón Alonso, Eduardo Weruaga, Manuel Álvarez-Dolado
Ataxias are locomotor disorders that can have an origin both neural and muscular, although both impairments are related. Unfortunately, ataxia has no cure, and the current therapies are aimed at motor re-education or muscular reinforcement. Nevertheless, cell therapy is becoming a promising approach to deal with incurable neural diseases, including neuromuscular ataxias. Here, we have used a model of ataxia, the Purkinje Cell Degeneration (PCD) mutant mouse, to study the effect of healthy (wild-type) bone marrow transplantation on the restoration of defective mobility...
December 8, 2017: Journal of Tissue Engineering and Regenerative Medicine
Rebecca Fels
Congenital cranial dysinnervation disorders (CCDD) is a new term describing a collection of non-progressive neurogenic syndromes. Initially referred to as congenital fibrosis syndrome, it was thought that the primary problem was extraocular muscular maldevelopment. Recent advancements in genetics and neuro-radiology have now determined the initial observation of fibrotic muscles is secondary to a primary lack of innervation from deficient, absent, or misguided cranial nerves. This presentation provides an overview of the known genes and phenotypes currently recognized within the CCDD domain...
January 2017: American Orthoptic Journal
Claire Mitchell, Audrey Bowen, Sarah Tyson, Paul Conroy
BACKGROUND: Dysarthria, a disordered speech production resulting from neuro-muscular impairment, is a common symptom after stroke. It causes significant problems for patients' speech intelligibility, communication, psychological well-being, social engagement and stroke recovery. Rehabilitation for dysarthria is variable in quality, intensity and duration, which may be, in part, due to the lack of good quality evidence. An online therapy programme, ReaDySpeech, has the potential to improve quality, intensity and duration of speech rehabilitation and was considered in a proof-of-concept study to be acceptable to speech and language therapists and patients which warranted further evaluation...
2018: Pilot and Feasibility Studies
Sabine Pellett, William H Tepp, Eric A Johnson, Dorothea Sesardic
INTRODUCTION: Botulinum neurotoxins (BoNTs), the causative agents of botulism, are widely used as powerful bio-pharmaceuticals to treat neuro-muscular disorders. Due to the high potency and potential lethality of BoNTs, careful monitoring of the biologic activity of BoNT-based pharmaceuticals is required to ensure safe usage. For decades, the only approved method for potency determination of pharmaceutical BoNTs was the mouse bioassay (MBA), but in recent years improvements in cell-assay technologies have enabled MBA replacement by cell-based assays for specific product evaluations...
November 2017: Journal of Pharmacological and Toxicological Methods
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
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