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Neuromuscular disease

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https://www.readbyqxmd.com/read/28339469/non-invasive-evaluation-of-muscle-disease-in-the-canine-model-of-duchenne-muscular-dystrophy-by-electrical-impedance-myography
#1
Chady H Hakim, Alex Mijailovic, Thais B Lessa, Joan R Coates, Carmen Shin, Seward B Rutkove, Dongsheng Duan
Dystrophin-deficient dogs are by far the best available large animal models for Duchenne muscular dystrophy (DMD), the most common lethal childhood muscle degenerative disease. The use of the canine DMD model in basic disease mechanism research and translational studies will be greatly enhanced with the development of reliable outcome measures. Electrical impedance myography (EIM) is a non-invasive painless procedure that provides quantitative data relating to muscle composition and histology. EIM has been extensively used in neuromuscular disease research in both human patients and rodent models...
2017: PloS One
https://www.readbyqxmd.com/read/28334989/impaired-fetal-muscle-development-and-jak-stat-activation-mark-disease-onset-and-progression-in-a-mouse-model-for-merosin-deficient-congenital-muscular-dystrophy
#2
Andreia M Nunes, Ryan D Wuebbles, Apurva Sarathy, Tatiana M Fontelonga, Marianne Deries, Dean J Burkin, Sólveig Thorsteinsdóttir
Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is a dramatic neuromuscular disease in which crippling muscle weakness is evident from birth. Here we use the dyW mouse model for human MDC1A to trace the onset of the disease during development in utero. We find that myotomal and primary myogenesis proceed normally in homozygous dyW-/-embryos. Fetal dyW-/-muscles display the same number of myofibers as wildtype muscles, but by E18.5 dyW-/-muscles are significantly smaller and muscle size is not recovered post-natally...
March 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28329750/optoelectronic-plethysmography-in-clinical-practice-and-research-a-review
#3
Carlo Massaroni, Elena Carraro, Andrea Vianello, Sandra Miccinilli, Michelangelo Morrone, Irisz K Levai, Emiliano Schena, Paola Saccomandi, Silvia Sterzi, John W Dickinson, Samantha Winter, Sergio Silvestri
BACKGROUND: Optoelectronic plethysmography (OEP) is a non-invasive motion capture method to measure chest wall movements and estimate lung volumes. OBJECTIVES: To provide an overview of the clinical findings and research applications of OEP in the assessment of breathing mechanics across populations of healthy and diseased individuals. METHODS: A bibliographic research was performed with the terms "opto-electronic plethysmography," "optoelectronic plethysmography," and "optoelectronic plethysmograph" in 50 digital library and bibliographic search databases resulting in the selection of 170 studies...
March 23, 2017: Respiration; International Review of Thoracic Diseases
https://www.readbyqxmd.com/read/28326549/the-three-finger-toxin-fold-a-multifunctional-structural-scaffold-able-to-modulate-cholinergic-functions
#4
REVIEW
Pascal Kessler, Pascale Marchot, Marcela Silva, Denis Servent
Three-finger fold toxins are miniproteins frequently found in Elapidae snake venoms. This fold is characterized by three distinct loops rich in β-strands and emerging from a dense, globular core reticulated by four highly conserved disulfide bridges. The number and diversity of receptors, channels, and enzymes identified as targets of three-finger fold toxins is increasing continuously. Such manifold diversity highlights the specific adaptability of this fold for generating pleiotropic functions. Although this toxin superfamily disturbs many biological functions by interacting with a large diversity of molecular targets, the most significant target is the cholinergic system...
March 21, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28326313/lung-volume-recruitment-acutely-increases-respiratory-system-compliance-in-individuals-with-severe-respiratory-muscle-weakness
#5
Yannick Molgat-Seon, Liam M Hannan, Paolo B Dominelli, Carli M Peters, Renee J Fougere, Douglas A McKim, A William Sheel, Jeremy D Road
The aim of the present study was to determine whether lung volume recruitment (LVR) acutely increases respiratory system compliance (Crs) in individuals with severe respiratory muscle weakness (RMW). Individuals with RMW resulting from neuromuscular disease or quadriplegia (n=12) and healthy controls (n=12) underwent pulmonary function testing and the measurement of Crs at baseline, immediately after, 1 h after and 2 h after a single standardised session of LVR. The LVR session involved 10 consecutive supramaximal lung inflations with a manual resuscitation bag to the highest tolerable mouth pressure or a maximum of 50 cmH2O...
January 2017: ERJ Open Research
https://www.readbyqxmd.com/read/28325641/spectrum-of-nondystrophic-skeletal-muscle-channelopathies-in-children
#6
Fouad Al-Ghamdi, Basil T Darras, Partha S Ghosh
BACKGROUND: The nondystrophic skeletal muscle channelopathies are a group of disorders caused by mutations of various voltage-gated ion channel genes, including nondystrophic myotonia and periodic paralysis. METHODS: We identified patients with a diagnosis of muscle channelopathy from our neuromuscular database in a tertiary care pediatric center from 2005 to 2015. We then performed a retrospective review of their medical records for demographic characteristics, clinical features, investigations, treatment, and follow-up...
February 16, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28325621/-diplopia-an-important-symptom-in-internal-medicine
#7
S Bidot, V Biousse
Diplopia is defined as "double vision" when looking at a single object. Monocular diplopia is related to an ocular disorder and must be differentiated from binocular diplopia which is secondary to ocular misalignment. The examination of the patient with binocular diplopia is often challenging for non-specialists. However, a careful and systematic clinical examination followed by targeted ancillary testing allows the clinician to localize the lesion along the oculomotor pathways. The lesion may involve the brainstem, the ocular motor nerves III, IV or VI, the neuromuscular junction, the extraocular ocular muscles, or the orbit...
March 18, 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/28323871/power-considerations-for-the-application-of-detrended-fluctuation-analysis-in-gait-variability-studies
#8
Nikita A Kuznetsov, Christopher K Rhea
The assessment of gait variability using stochastic signal processing techniques such as detrended fluctuation analysis (DFA) has been shown to be a sensitive tool for evaluation of gait alterations due to aging and neuromuscular disease. However, previous studies have suggested that the application of DFA requires relatively long recordings (600 strides), which is difficult when working with clinical populations or older adults. In this paper we propose a model for predicting DFA variance in experimental data and conduct a Monte Carlo simulation to estimate the sample size and number of trials required to detect a change in DFA scaling exponent...
2017: PloS One
https://www.readbyqxmd.com/read/28320135/further-evidence-for-the-reliability-and-validity-of-the-fatigue-and-daytime-sleepiness-scale
#9
Benjamin Gallais, Cynthia Gagnon, Geneviève Forgues, Isabelle Côté, Luc Laberge
BACKGROUND: Myotonic dystrophy type 1 (DM1) is an inherited neuromuscular disease causing, among other symptoms, fatigue and excessive daytime sleepiness, which are frequently undifferentiated by patients and/or clinicians. The Fatigue and Daytime Sleepiness Scale (FDSS) has been devised to measure these two overlapping symptoms as a single clinical entity. OBJECTIVE: To further examine the reliability and the construct validity of the FDSS in patients with DM1...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28318818/twitch-mouth-pressure-for-detecting-respiratory-muscle-weakness-in-suspicion-of-neuromuscular-disorder
#10
Dante Brasil Santos, Gilbert Desmarais, Line Falaize, Adam Ogna, Sandrine Cognet, Bruno Louis, David Orlikowski, Hélène Prigent, Frédéric Lofaso
Twitch mouth pressure using magnetic stimulation of the phrenic nerves and an automated inspiratory trigger is a noninvasive, non-volitional assessment of diaphragmatic strength. Our aims were to validate this method in patients with suspected neuromuscular disease, to determine the best inspiratory-trigger pressure threshold, and to evaluate whether twitch mouth pressure decreased the overdiagnosis of muscle weakness frequently observed with noninvasive volitional tests. Maximal inspiratory pressure, sniff nasal pressure, and twitch mouth pressure were measured in 112 patients with restrictive disease and suspected neuromuscular disorder...
February 2, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28318781/spinal-fusion-in-a-patient-with-fukuyama-congenital-muscular-dystrophy
#11
Kaori Hino, Mitsumasa Fukuda, Tadao Morino, Tadanori Ogata, Masanori Ito, Eiichi Ishii
Many studies have evaluated surgical treatments for spinal deformities in patients with neuromuscular disease. However, few reports have described patients with Fukuyama congenital muscular dystrophy (FCMD). A 13-year-old boy with FCMD was unable to sit for long periods or sleep in the supine position because of progressive scoliosis. His Cobb angle worsened from 27° to 41° in 5months. He underwent standard posterior spinal fusion and pedicle-screw-alone fixation from T5 to S1. Postoperatively, his Cobb angle improved from 41° to 25° without exacerbation for 2years...
March 16, 2017: Brain & Development
https://www.readbyqxmd.com/read/28318044/pathomechanisms-of-anti-cn1a-autoantibodies-in-sporadic-inclusion-body-myositis
#12
Nozomu Tawara, Satoshi Yamashita, Xiao Zhang, Mai Korogi, Ziwei Zhang, Tsukasa Doki, Yoshimasa Matsuo, Shunya Nakane, Yasushi Maeda, Kazuma Sugie, Naoki Suzuki, Masashi Aoki, Yukio Ando
OBJECTIVE: Sporadic inclusion body myositis (sIBM), an intractable progressive muscle disease, frequently occurs in older persons. sIBM pathogenesis may involve protein degradation dysfunction and immune abnormalities. Autoantibodies recognizing cytosolic 5'-nucleotidase 1A (cN1A) were found in plasma and serum from sIBM patients. Whether anti-cN1A autoantibodies play a pathogenic role in sIBM is controversial, however. This study investigated the pathogenic properties of anti-cN1A autoantibodies in sIBM pathogenesis...
March 20, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28316260/animal-physiology-and-genetic-aspects-of-ryegrass-staggers-in-grazing-sheep
#13
C A Morris, T T Wheeler, H V Henderson, N R Towers, S H Phua
Ryegrass staggers (RGS) is a metabolic disease of herbivores, caused by the ingestion of perennial ryegrass (Lolium perenne L.) containing a fungal endophyte (Neotyphodium lolii) which produces a tremorgenic toxin, lolitrem B. RGS has a major economic impact for agriculture in New Zealand as well as internationally. Management of RGS in grazing sheep can be problematic, and there is an incomplete knowledge of the interaction between the toxin and the grazing animal. This review is focused on recent advances in understanding the molecular physiology of RGS in the affected animal as well as the influence of animal genetics on the degree of susceptibility to RGS...
March 19, 2017: New Zealand Veterinary Journal
https://www.readbyqxmd.com/read/28302762/brain-fdg-pet-metabolic-abnormalities-in-macrophagic-myofasciitis-are-they-stable
#14
Paul Blanc-Durand, Axel Van Der Gucht, Mehdi Aoun Sebaiti, Mukedaisi Abulizi, Francois-Jérome Authier, Emmanuel Itti
We address this letter in addition to our recent published study (1). The aim is to add some insight to the evolution of the brain abnormalities that are observed with macrophagic myofasciitis (MMF). MMF is a chronic disease whom evolution is slow and symptoms first may occurs from months to year after a vaccination containing aluminium hydroxid adjuvants (2). Nevertheless, its evolution is not fully understood or known. MMF associated cognitive dysfunction (MACD) is based on a tripod combining dysexecutive syndrom, visual memory impairment and interhemispheric disconnection...
March 16, 2017: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
https://www.readbyqxmd.com/read/28302142/maximum-inspiratory-pressure-as-a-clinically-meaningful-trial-endpoint-for-neuromuscular-diseases-a-comprehensive-review-of-the-literature
#15
REVIEW
Benedikt Schoser, Edward Fong, Tarekegn Geberhiwot, Derralynn Hughes, John T Kissel, Shyam C Madathil, David Orlikowski, Michael I Polkey, Mark Roberts, Harm A W M Tiddens, Peter Young
Respiratory muscle strength is a proven predictor of long-term outcome of neuromuscular disease (NMD), including amyotrophic lateral sclerosis, Duchenne muscular dystrophy, and spinal muscular atrophy. Maximal inspiratory pressure (MIP), a sensitive measure of respiratory muscle strength, one of several useful tests of respiratory muscle strength, is gaining interest as a therapeutic clinical trial endpoint for NMD. In this comprehensive review we investigate the use of MIP as a measure of respiratory muscle strength in clinical trials of therapeutics targeting respiratory muscle, examine the correlation of MIP with survival, quality of life, and other measures of pulmonary function, and outline the role of MIP as a clinically significantly meaningful outcome measure...
March 16, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28298885/functional-roles-of-the-interaction-of-app-and-lipoprotein-receptors
#16
REVIEW
Theresa Pohlkamp, Catherine R Wasser, Joachim Herz
The biological fates of the key initiator of Alzheimer's disease (AD), the amyloid precursor protein (APP), and a family of lipoprotein receptors, the low-density lipoprotein (LDL) receptor-related proteins (LRPs) and their molecular roles in the neurodegenerative disease process are inseparably interwoven. Not only does APP bind tightly to the extracellular domains (ECDs) of several members of the LRP group, their intracellular portions are also connected through scaffolds like the one established by FE65 proteins and through interactions with adaptor proteins such as X11/Mint and Dab1...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28298842/preoperative-parameters-and-their-prognostic-value-in-amyotrophic-lateral-sclerosis-patients-undergoing-implantation-of-a-diaphragm-pacing-stimulation-system
#17
Aydın Şanlı, Ihsan Şükrü Şengün, Volkan Karaçam, Aylin Özgen Alpaydın, Kemal Can Tertemiz, Sevgi Özalevli, Bahar Ağaoğlu Şanlı, Alper Kaya, Nezih Özdemir
INTRODUCTION: Amyotrophic lateral sclerosis (ALS) is a progressive neuromuscular disease with devastating and fatal respiratory complications. Diaphragm pacing stimulation (DPS) is a treatment option in diaphragm insufficient ALS patients. Ventilatory insufficiency depending on diaphragmatic failure is treated by the present study aimed to investigate prognostic value of preoperative clinical and functional characteristics of ALS patients undergoing implantation of a DPS system and to determine appropriate indications for the DPS system...
January 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28294284/the-aetiology-of-chronic-vulval-pain-and-entry-dyspareunia-a-retrospective-review-of-525-cases
#18
Victoria Harris, Gayle Fischer, Jennifer A Bradford
BACKGROUND: There are few published data about the incidence of diagnoses or treatment outcomes, for chronic vulval pain. AIMS: To document diagnoses and treatment outcomes in a cohort of chronic vulval pain presentations. MATERIALS AND METHODS: A retrospective case review of the patient database of a private vulval clinic between January 2011 and March 2015. RESULTS: Five hundred and twenty-five out of 3360 patients (15...
March 13, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28291950/the-extremity-function-index-efi-a-disability-severity-measure-for-neuromuscular-diseases-psychometric-evaluation
#19
Isaäc Bos, Klaske Wynia, Gea Drost, Josué Almansa, Jan B M Kuks
OBJECTIVE: To adapt and to combine the self-report Upper Extremity Functional Index and Lower Extremity Function Scale, for the assessment of disability severity in patients with a neuromuscular disease and to examine its psychometric properties in order to make it suitable for indicating disease severity in neuromuscular diseases. DESIGN: A cross-sectional postal survey study was performed among patients diagnosed with a neuromuscular disease. METHODS: Patients completed both adapted extremity function scales, questionnaires for psychometric evaluation, and disease-specific questions...
March 14, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28288529/a-comparison-of-swallowing-dysfunction-in-becker-muscular-dystrophy-and-duchenne-muscular-dystrophy
#20
Yuka Yamada, Michiyuki Kawakami, Ayako Wada, Tomoyoshi Otsuka, Kaori Muraoka, Meigen Liu
PURPOSE: Swallowing dysfunction has been reported in Duchenne muscular dystrophy (DMD), but has not been studied in Becker muscular dystrophy (BMD). The aims of this study were to report the characteristics of swallowing dysfunction in BMD compared with DMD. MATERIALS AND METHODS: The study participants were 18 patients with BMD and 18 patients with DMD. All the patients were examined using videofluorography during swallowing of 5 mL of fluid. The penetration-aspiration scale (P-A scale) and the videofluorographic dysphagia scale (VDS) were used to evaluate dysphagia...
March 13, 2017: Disability and Rehabilitation
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