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Neuromuscular therapy

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https://www.readbyqxmd.com/read/29445122/deep-phenotyping-of-speech-and-language-skills-in-individuals-with-16p11-2-deletion
#1
Cristina Mei, Evelina Fedorenko, David J Amor, Amber Boys, Caitlyn Hoeflin, Peter Carew, Trent Burgess, Simon E Fisher, Angela T Morgan
Recurrent deletions of a ~600-kb region of 16p11.2 have been associated with a highly penetrant form of childhood apraxia of speech (CAS). Yet prior findings have been based on a small, potentially biased sample using retrospectively collected data. We examine the prevalence of CAS in a larger cohort of individuals with 16p11.2 deletion using a prospectively designed assessment battery. The broader speech and language phenotype associated with carrying this deletion was also examined. 55 participants with 16p11...
February 14, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29443731/recovery-of-an-injured-corticofugal-tract-from-the-supplementary-motor-area-in-a-patient-with-traumatic-brain-injury-a-case-report
#2
Sung Ho Jang, Seong Ho Kim, Jeong Pyo Seo
RATIONALE: We report on a patient with traumatic brain injury who showed motor recovery concurrent with recovery of injured corticofugal tracts (CFTs), diagnosed by diffusion tensor tractography (DTT). PATIENT CONCERNS: Four weeks after onset, when the patient started rehabilitation, he showed severe weakness of both upper and lower extremities [Motricity Index (MI, full score: 100/100): 9/30]. DIAGNOSES: A 29-year-old male patient underwent conservative management for traumatic hemorrhages in both frontal lobes and right thalamus resulting from a car accident...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29442142/classic-papers-on-pelvic-floor-physiotherapy-the-most-frequently-cited-articles-in-three-decades-1983-2013
#3
REVIEW
Alexandre Fornari, Cristiane Carboni
INTRODUCTION AND HYPOTHESIS: Pelvic floor physiotherapy has been utilized extensively over the past decades for the treatment of pelvic floor dysfunctions. The aim of this study was to identify and characterize the most frequently cited articles on pelvic floor physiotherapy published in the last 30 years. METHODS: A PubMed search of all articles published between 1983 and 2013 was performed. Articles with more than 100 citations were identified as "classic," and were further analyzed based on author names, year of publication, journal of publication, subject, study design, country of research, and number of citations...
February 13, 2018: International Urogynecology Journal
https://www.readbyqxmd.com/read/29440566/comprehensive-systematic-review-summary-treatment-of-cerebellar-motor-dysfunction-and-ataxia-report-of-the-guideline-development-dissemination-and-implementation-subcommittee-of-the-american-academy-of-neurology
#4
Theresa A Zesiewicz, George Wilmot, Sheng-Han Kuo, Susan Perlman, Patricia E Greenstein, Sarah H Ying, Tetsuo Ashizawa, S H Subramony, Jeremy D Schmahmann, K P Figueroa, Hidehiro Mizusawa, Ludger Schöls, Jessica D Shaw, Richard M Dubinsky, Melissa J Armstrong, Gary S Gronseth, Kelly L Sullivan
OBJECTIVE: To systematically review evidence regarding ataxia treatment. METHODS: A comprehensive systematic review was performed according to American Academy of Neurology methodology. CONCLUSIONS: For patients with episodic ataxia type 2, 4-aminopyridine 15 mg/d probably reduces ataxia attack frequency over 3 months (1 Class I study). For patients with ataxia of mixed etiology, riluzole probably improves ataxia signs at 8 weeks (1 Class I study)...
February 9, 2018: Neurology
https://www.readbyqxmd.com/read/29435955/effects-of-manual-somatic-stimulation-on-the-autonomic-nervous-system-and-posture
#5
Giovanni Barassi, Rosa Grazia Bellomo, Camillo Di Giulio, Giuseppe Giannuzzo, Giuseppe Irace, Claudia Barbato, Raoul Saggini
Low back pain frequently involves a multifactorial etiology and requires medical attention. The aim of the study was to assess the associations among pain, posture, and autonomic nervous system function in patients with low back pain, using neuromuscular manual therapy versus a generic peripheral manual stimulation (back massage therapy). Twenty young patients with low back pain were enrolled into the study. The patients were randomly divided into two groups: treated with neuromuscular manual therapy performed after a specific structural evaluation and treated with back massage therapy...
February 13, 2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29434670/advances-in-spinal-muscular-atrophy-therapeutics
#6
REVIEW
Valeria Parente, Stefania Corti
Spinal muscular atrophy (SMA) is a progressive, recessively inherited neuromuscular disease, characterized by the degeneration of lower motor neurons in the spinal cord and brainstem, which leads to weakness and muscle atrophy. SMA currently represents the most common genetic cause of infant death. SMA is caused by the lack of survival motor neuron (SMN) protein due to mutations, which are often deletions, in the SMN1 gene. In the absence of treatments able to modify the disease course, a considerable burden falls on patients and their families...
2018: Therapeutic Advances in Neurological Disorders
https://www.readbyqxmd.com/read/29434537/how-can-a-ketogenic-diet-improve-motor-function
#7
REVIEW
Charlotte Veyrat-Durebex, Pascal Reynier, Vincent Procaccio, Rudolf Hergesheimer, Philippe Corcia, Christian R Andres, Hélène Blasco
A ketogenic diet (KD) is a normocaloric diet composed by high fat (80-90%), low carbohydrate, and low protein consumption that induces fasting-like effects. KD increases ketone body (KBs) production and its concentration in the blood, providing the brain an alternative energy supply that enhances oxidative mitochondrial metabolism. In addition to its profound impact on neuro-metabolism and bioenergetics, the neuroprotective effect of specific polyunsaturated fatty acids and KBs involves pleiotropic mechanisms, such as the modulation of neuronal membrane excitability, inflammation, or reactive oxygen species production...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29434456/does-neuromuscular-electrical-stimulation-therapy-increase-voluntary-muscle-strength-after-spinal-cord-injury-a-systematic-review
#8
Gabriel Ribeiro de Freitas, Camila Szpoganicz, Jocemar Ilha
Background: Physical therapists frequently use neuromuscular electrical stimulation (NMES) therapy in an effort to increase the voluntary strength of partially paralyzed muscles in people with spinal cord injury (SCI), but it is not clear whether this treatment is effective. Objective: To determine the effectiveness of NMES for increasing voluntary strength in the partially paralyzed muscles of people with SCI. Methods: A systematic review of scientific literature was conducted in MEDLINE, CINAHL, PEDro, ScienceDirect, and Embase...
2018: Topics in Spinal Cord Injury Rehabilitation
https://www.readbyqxmd.com/read/29427100/x-linked-spinal-and-bulbar-muscular-atrophy-from-clinical-genetic-features-and-molecular-pathology-to-mechanisms-underlying-disease-toxicity
#9
Constanza J Cortes, Albert R La Spada
Spinal and Bulbar Muscular Atrophy (SBMA) is an inherited neuromuscular disorder caused by a CAG-polyglutamine (polyQ) repeat expansion in the androgen receptor (AR) gene. Unlike other polyQ diseases, where the function of the native causative protein is unknown, the biology of AR is well understood, and this knowledge has informed our understanding of how native AR function interfaces with polyQ-AR dysfunction. Furthermore, ligand-dependent activation of AR has been linked to SBMA disease pathogenesis, and has led to a thorough study of androgen-mediated effects on polyQ-AR stability, degradation, and post-translational modifications, as well as their roles in the disease process...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29424188/revolving-door-respiratory-patients-a-rehabilitative-perspective
#10
Massimiliano Polastri, Lara Pisani, Andrea Dell'Amore, Stefano Nava
Rehabilitation is an integral component of care for patients affected by either acute or chronic pulmonary diseases. The key elements of rehabilitation treatment for critical respiratory patients are as follows: weaning from mechanical ventilation, respiratory therapy, physical reconditioning, and occupational therapy. It should be noted that patients affected by pulmonary diseases are prone to hospital re-admission due to frequent exacerbations, especially in cases with more severe stages of chronic obstructive pulmonary disease...
September 22, 2017: Monaldi Archives for Chest Disease, Archivio Monaldi Per le Malattie del Torace
https://www.readbyqxmd.com/read/29422531/circulating-mirnas-as-diagnostic-biomarkers-for-adolescent-idiopathic-scoliosis
#11
José Luis García-Giménez, Pedro Antonio Rubio-Belmar, Lorena Peiró-Chova, David Hervás, Daymé González-Rodríguez, José Santiago Ibañez-Cabellos, Paloma Bas-Hermida, Salvador Mena-Mollá, Eva María García-López, Federico V Pallardó, Teresa Bas
The aetiology of adolescent idiopathic scoliosis (AIS) has been linked to many factors, such as asymmetric growth, neuromuscular condition, bone strength and genetic background. Recently, epigenetic factors have been proposed as contributors of AIS physiopathology, but information about the molecular mechanisms and pathways involved is scarce. Regarding epigenetic factors, microRNAs (miRNAs) are molecules that contribute to gene expression modulation by regulating important cellular pathways. We herein used Next-Generation Sequencing to discover a series of circulating miRNAs detected in the blood samples of AIS patients, which yielded a unique miRNA biomarker signature that diagnoses AIS with high sensitivity and specificity...
February 8, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29419665/the-effects-of-physical-therapy-with-neuromuscular-electrical-stimulation-in-patients-with-septic-shock-study-protocol-for-a-randomized-cross-over-design
#12
RANDOMIZED CONTROLLED TRIAL
Alessandra Fabiane Lago, Anamaria Siriani de Oliveira, Hugo Celso Dutra de Souza, João Santana da Silva, Anibal Basile-Filho, Ada Clarice Gastaldi
INTRODUCTION: Septic shock is a potentially fatal organ dysfunction caused by an imbalance of the host response to infection. The changes in microcirculation during sepsis can be explained by the alterations in the endothelial barrier function. Endothelial progenitor cells (EPCs) are a potential recovery index of endothelial function and it an increase in response to neuromuscular electrical stimulation (NMES) was demonstrated. Therefore, the objective of this study is to investigate the effects of NMES in patients with septic shock...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29408413/regulation-of-fibrosis-in-muscular-dystrophy
#13
REVIEW
Lucas R Smith, Elisabeth R Barton
The production of force and power are inherent properties of skeletal muscle, and regulated by contractile proteins within muscle fibers. However, skeletal muscle integrity and function also require strong connections between muscle fibers and their extracellular matrix (ECM). A well-organized and pliant ECM is integral to muscle function and the ability for many different cell populations to efficiently migrate through ECM is critical during growth and regeneration. For many neuromuscular diseases, genetic mutations cause disruption of these cytoskeletal-ECM connections, resulting in muscle fragility and chronic injury...
February 2, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29405939/neuromuscular-features-of-hypophosphatasia
#14
C Fonta, J-P Salles
The pathophysiology of the neuromuscular manifestations of hypophosphatasia (HPP) remains unknown. Pyridoxine-sensitive seizures characterize severe forms of infantile HPP. Young children and infants affected with severe forms of HPP, but also adults often present with myopathy characterized by hypotonia or muscle weakness. Chronic pain, of unclear mechanism is also often present. Tissue-non-specific alkaline phosphatase (Alkaline Phosphatase-Liver/Bone/Kidney [ALPL]) is expressed in brain neuronal cell and in muscle cells during development and adulthood...
May 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29396266/rescue-of-gsdiii-phenotype-with-gene-transfer-requires-liver-and-muscle-targeted-gde-expression
#15
Patrice Vidal, Serena Pagliarani, Pasqualina Colella, Helena Costa Verdera, Louisa Jauze, Monika Gjorgjieva, Francesco Puzzo, Solenne Marmier, Fanny Collaud, Marcelo Simon Sola, Severine Charles, Sabrina Lucchiari, Laetitia van Wittenberghe, Alban Vignaud, Bernard Gjata, Isabelle Richard, Pascal Laforet, Edoardo Malfatti, Gilles Mithieux, Fabienne Rajas, Giacomo Pietro Comi, Giuseppe Ronzitti, Federico Mingozzi
Glycogen storage disease type III (GSDIII) is an autosomal recessive disorder caused by a deficiency of glycogen-debranching enzyme (GDE), which results in profound liver metabolism impairment and muscle weakness. To date, no cure is available for GSDIII and current treatments are mostly based on diet. Here we describe the development of a mouse model of GSDIII, which faithfully recapitulates the main features of the human condition. We used this model to develop and test novel therapies based on adeno-associated virus (AAV) vector-mediated gene transfer...
December 28, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/29395989/diagnosis-and-management-of-duchenne-muscular-dystrophy-part-1-diagnosis-and-neuromuscular-rehabilitation-endocrine-and-gastrointestinal-and-nutritional-management
#16
REVIEW
David J Birnkrant, Katharine Bushby, Carla M Bann, Susan D Apkon, Angela Blackwell, David Brumbaugh, Laura E Case, Paula R Clemens, Stasia Hadjiyannakis, Shree Pandya, Natalie Street, Jean Tomezsko, Kathryn R Wagner, Leanne M Ward, David R Weber
Since the publication of the Duchenne muscular dystrophy (DMD) care considerations in 2010, multidisciplinary care of this severe, progressive neuromuscular disease has evolved. In conjunction with improved patient survival, a shift to more anticipatory diagnostic and therapeutic strategies has occurred, with a renewed focus on patient quality of life. In 2014, a steering committee of experts from a wide range of disciplines was established to update the 2010 DMD care considerations, with the goal of improving patient care...
January 23, 2018: Lancet Neurology
https://www.readbyqxmd.com/read/29395673/228th-enmc-international-workshop-airway-clearance-techniques-in-neuromuscular-disorders-naarden-the-netherlands-3-5-march-2017
#17
Michel Toussaint, Michelle Chatwin, Jesus Gonzales, David J Berlowitz
No abstract text is available yet for this article.
November 7, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29395660/new-quantitative-method-for-evaluation-of-motor-functions-applicable-to-spinal-muscular-atrophy
#18
Naoki Matsumaru, Ryo Hattori, Takashi Ichinomiya, Katsura Tsukamoto, Zenichiro Kato
OBJECTIVE: The aim of this study was to develop and introduce new method to quantify motor functions of the upper extremity. METHODS: The movement was recorded using a three-dimensional motion capture system, and the movement trajectory was analyzed using newly developed two indices, which measure precise repeatability and directional smoothness. Our target task was shoulder flexion repeated ten times. We applied our method to a healthy adult without and with a weight, simulating muscle impairment...
January 22, 2018: Brain & Development
https://www.readbyqxmd.com/read/29394509/increase-of-hcn-current-in-the-aberrant-excitability-of-spinal-muscular-atrophy
#19
Hsing-Jung Lai, Chien-Lin Chen, Li-Kai Tsai
Objective The pathophysiology of spinal muscular atrophy (SMA) is still unclear. Methods The nerve excitability test in SMA patients and a mouse model of SMA was carried out to explore the pathophysiology of nodal and internodal currents, and quantitative PCR, Western blotting and whole-cell patch-clamp recording were used for the identified hypothesis. Results The nerve excitability test in SMA patients showed increased inward rectification in the current-threshold relationship and increased overshoot after hyperpolarizing threshold electrotonus, which indicates increased hyperpolarization-activated cyclic nucleotide-gated (HCN) current; these findings correlated with disease severity...
February 2, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29384276/-long-term-non-invasive-ventilation-in-chronic-obstructive-pulmonary-disease-patients
#20
Léonore Schopfer, Lena Groenendijk, Jean-Paul Janssens, Alain Bigin Younossian, Laurence Vignaux
Non-invasive ventilation (NIV) is recognized as first line therapy in acute hypercapnic respiratory failure and chronic alveolar hypoventilation caused by several diseases (restrictive thoracic disorders, neuromuscular disease and obesity-hypoventilation syndrome). In Switzerland and other European countries, long-term NIV has also been applied in hypercapnic patients with chronic obstructive pulmonary disease (COPD). However, only recently has conclusive evidence showing benefits of long-term NIV become available...
January 31, 2018: Revue Médicale Suisse
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