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https://www.readbyqxmd.com/read/28726234/-current-status-of-congenital-myasthenic-syndromes
#1
REVIEW
M Bestue-Cardiel, D Natera-de Benito
Since Engel reported the first case of congenital myasthenia in 1977 and the first pathogenic gene was found in 1995, knowledge about congenital myasthenic syndromes has continued to grow. Over the years, the pathogenic basis, its clinical features, the phenotype-genotype correlations that have been established and its therapeutic management have all been described. In this group of diseases the safety margin of neuromuscular transmission is altered by different mechanisms: in the synthesis or storage of acetylcholine quanta in the synaptic vesicles, in the calcium-mediated release of acetylcholine in the nerve terminal or in the efficiency of the quantum released to generate a post-synaptic depolarisation...
August 16, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28724748/depressed-synaptic-transmission-and-reduced-vesicle-release-sites-in-huntington-s-disease-neuromuscular-junctions
#2
Ahmad Khedraki, Eric J Reed, Shannon H Romer, Qingbo Wang, William Romine, Mark M Rich, Robert J Talmadge, Andrew A Voss
Huntington's disease (HD) is a progressive and fatal degenerative disorder that results in debilitating cognitive and motor dysfunction. Most HD studies have focused on degeneration of the central nervous system. We previously discovered that skeletal muscle from transgenic R6/2 HD mice is hyperexcitable due to decreased chloride and potassium conductances. The progressive and early onset of these defects suggest a primary myopathy in HD. In this study, we examined the relationship between neuromuscular transmission and skeletal muscle hyperexcitability...
July 19, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28721951/recording-characteristics-of-electrical-impedance-myography-needle-electrodes
#3
Hyeuknam Kwon, Seward B Rutkove, Benjamin Sanchez
OBJECTIVE: The neurology and physiatry community need improved tools for the evaluation of skeletal muscle condition. Here, we evaluate needle electrical impedance myography (EIM), a new minimally invasive approach to determine muscle status that could ultimately become a bedside tool for the assessment of neuromuscular disorders. APPROACH: We design and study the recording characteristics of tetrapolar EIM needle electrodes combining theory and finite element model simulations...
July 19, 2017: Physiological Measurement
https://www.readbyqxmd.com/read/28721575/gastroparesis-medical-and-therapeutic-advances
#4
REVIEW
Christopher M Navas, Nihal K Patel, Brian E Lacy
Gastroparesis is a chronic, bothersome, and often disabling neuromuscular disorder of the upper gastrointestinal tract. The most frequently reported symptoms of gastroparesis include nausea, vomiting, epigastric pain, early satiety, and unintentional weight loss. Etiologies of gastroparesis include diabetes, connective tissue disorders, prior infection, mesenteric ischemia, and post-surgical complications. The largest category of gastroparesis patients is comprised of those in whom no definitive cause can be identified (idiopathic gastroparesis)...
July 18, 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28715270/reliability-and-validity-of-the-turkish-version-of-abilhand-kids-questionnaire-in-a-group-of-patients-with-neuromuscular-disorders
#5
Çigdem Öksüz, Ipek Alemdaroglu, Muhammed Kilinç, Hatice Abaoglu, Cevher Demirci, Sevilay Karahan, Oznur Yilmaz, Sibel Aksu Yildirim
This study was performed to examine the reliability and validity of the Turkish version of ABILHAND-Kids questionnaire which assesses manual functions of children with neuromuscular diseases (NMDs). A cross sectional survey study design and Rasch analysis were used to assess the reliability and validity of the Turkish version of scale. Ninety-three children with different neuromuscular disorders and their parents were included in the study. The scale was applied to the parents with face-to-face interview twice; on their first visit and after an interval of 15 days...
July 17, 2017: Physiotherapy Theory and Practice
https://www.readbyqxmd.com/read/28714989/correction-of-a-splicing-defect-in-a-mouse-model-of-congenital-muscular-dystrophy-type-1a-using-a-homology-directed-repair-independent-mechanism
#6
Dwi U Kemaladewi, Eleonora Maino, Elzbieta Hyatt, Huayun Hou, Maylynn Ding, Kara M Place, Xinyi Zhu, Prabhpreet Bassi, Zahra Baghestani, Amit G Deshwar, Daniele Merico, Hui Y Xiong, Brendan J Frey, Michael D Wilson, Evgueni A Ivakine, Ronald D Cohn
Splice-site defects account for about 10% of pathogenic mutations that cause Mendelian diseases. Prevalence is higher in neuromuscular disorders (NMDs), owing to the unusually large size and multi-exonic nature of genes encoding muscle structural proteins. Therapeutic genome editing to correct disease-causing splice-site mutations has been accomplished only through the homology-directed repair pathway, which is extremely inefficient in postmitotic tissues such as skeletal muscle. Here we describe a strategy using nonhomologous end-joining (NHEJ) to correct a pathogenic splice-site mutation...
July 17, 2017: Nature Medicine
https://www.readbyqxmd.com/read/28712002/mutations-in-gfpt1-related-congenital-myasthenic-syndromes-are-associated-with-synaptic-morphological-defects-and-underlie-a-tubular-aggregate-myopathy-with-synaptopathy
#7
Stéphanie Bauché, Geoffroy Vellieux, Damien Sternberg, Marie-Joséphine Fontenille, Elodie De Bruyckere, Claire-Sophie Davoine, Guy Brochier, Julien Messéant, Lucie Wolf, Michel Fardeau, Emmanuelle Lacène, Norma Romero, Jeanine Koenig, Emmanuel Fournier, Daniel Hantaï, Nathalie Streichenberger, Veronique Manel, Arnaud Lacour, Aleksandra Nadaj-Pakleza, Sylvie Sukno, Françoise Bouhour, Pascal Laforêt, Bertrand Fontaine, Laure Strochlic, Bruno Eymard, Frédéric Chevessier, Tanya Stojkovic, Sophie Nicole
Mutations in GFPT1 (glutamine-fructose-6-phosphate transaminase 1), a gene encoding an enzyme involved in glycosylation of ubiquitous proteins, cause a limb-girdle congenital myasthenic syndrome (LG-CMS) with tubular aggregates (TAs) characterized predominantly by affection of the proximal skeletal muscles and presence of highly organized and remodeled sarcoplasmic tubules in patients' muscle biopsies. We report here the first long-term clinical follow-up of 11 French individuals suffering from LG-CMS with TAs due to GFPT1 mutations, of which nine are new...
July 15, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28710284/the-neuronal-protein-neurexin-directly-interacts-with-the-scribble-pix-complex-to-stimulate-f-actin-assembly-for-synaptic-vesicle-clustering
#8
Menglong Rui, Jinjun Qian, Lijuan Liu, Yihan Cai, Huihui Lv, Junhai Han, Zhengping Jia, Wei Xie
Synaptic vesicles (SVs) form distinct pools at synaptic terminals, and this well-regulated separation is necessary for normal neuro-transmission. However, how SV cluster in particular synaptic compartments to maintain normal neurotransmitter release remains a mystery. The presynaptic protein Neurexin (NRX) plays a significant role in synaptic architecture and function, and some evidences suggest that NRX is associated with neurological disorders, including autism spectrum disorders. However, the role of NRX in SV clustering is unclear...
July 14, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28705229/brugada-syndrome-in-a-patient-with-amyotrophic-lateral-sclerosis-a-case-report
#9
Anusha Battineni, Rohit Gummi, Naresh Mullaguri, Raghav Govindarajan
BACKGROUND: Amyotrophic lateral sclerosis is a fatal neuromuscular disorder characterized by progressive death of the upper and lower motor neurons in the central nervous system. Patients with this disease die mostly as a result of respiratory failure; however, owing to prolonged survival through assisted ventilation, cardiovascular causes are increasingly responsible for mortality. We report what is to the best of our knowledge the first case of type 2 Brugada syndrome causing ventricular tachyarrhythmia and cardiac arrest in a patient with upper limb onset amyotrophic lateral sclerosis...
July 14, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28702830/sleep-disordered-breathing-in-patients-with-neuromuscular-disease
#10
REVIEW
Mohamad Ammar Albdewi, Giuseppe Liistro, Riëm El Tahry
Sleep-disordered breathing (SDB) is relatively common in general population as well as in patients with neuromuscular disease. SDB comprises a wide spectrum of disorders varying from simple snoring to complete closure of the upper airway as seen in obstructive sleep apnoea (OSA). It includes also other disorders like prolonged hypoxemia, hypoventilation, and central sleep apnoea (CSA). Neuromuscular diseases (NMD) form a group of disorders that can cause significant reduction in the quality and span of life...
July 12, 2017: Sleep & Breathing, Schlaf & Atmung
https://www.readbyqxmd.com/read/28694199/initiation-of-non-invasive-ventilation-for-sleep-related-hypoventilation-disorders-advanced-modes-and-devices
#11
REVIEW
Bernardo J Selim, Lisa Wolfe, John M Coleman, Naresh Dewan
Although non-invasive ventilation (NIV) has been used since the 1960's in the polio epidemic, the development of modern bilevel PAP devices did not become a reality until the 1990's. Over the last 25 years bilevel PAP technology options have exponentially increased. The number of patients receiving this treatment both in the acute setting as well as at home is steadily growing. However, a knowledge gap exists in the way these device settings are adjusted to achieve synchrony and match patient's unique respiratory failure physiology...
July 7, 2017: Chest
https://www.readbyqxmd.com/read/28688566/dysphagia-in-healthy-children-characteristics-and-management-of-a-consecutive-cohort-at-a-tertiary-centre
#12
Orysya Svystun, Wendy Johannsen, Rabin Persad, Justine M Turner, Carina Majaesic, Hamdy El-Hakim
OBJECTIVE: Whereas the literature is replete with reports on complex children with dysphagia (DP), the parameters characterizing non-neurologically impaired (NNI) children have been underreported, leaving a substantial knowledge gap. We set to characterize a consecutive cohort of NNI children, their management, and outcomes. METHODS: We undertook a retrospective case series. Children (<18 years old) attending a tertiary multidisciplinary swallowing clinic were eligible...
August 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28686290/mining-for-mitochondrial-mechanisms-linking-known-syndromes-to-mitochondrial-function
#13
REVIEW
Daan M Panneman, Jan A Smeitink, Richard J Rodenburg
Mitochondrial disorders (MDs) are caused by defects in one or multiple complexes of the oxidative phosphorylation (OXPHOS) machinery. MDs are associated with a broad range of clinical signs and symptoms, and have considerable clinical overlap with other neuromuscular syndromes. This overlap might be due to involvement of mitochondrial pathways in some of these non-mitochondrial syndromes. Here, we give an overview of around 25 non-mitochondrial syndromes, diagnosed in patients who were initially suspected to have a MD on the basis of clinical and biochemical parameters...
July 7, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28683502/translational-research-in-europe-for-the-assessment-and-treatment-for-neuromuscular-disorders-treat-nmd
#14
Rebecca Leary, Anne O Oyewole, Katharine Bushby, Annemieke Aartsma-Rus
No abstract text is available yet for this article.
July 6, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28681569/diagnostic-use-of-endoscopic-full-thickness-wall-resection-eftr-a-novel-minimally-invasive-technique-for-colonic-tissue-sampling-in-patients-with-severe-gastrointestinal-motility-disorders
#15
P V Valli, D Pohl, M Fried, R Caduff, P Bauerfeind
BACKGROUND: Complex gastrointestinal (GI) motility disorders such as chronic intestinal pseudo-obstruction (CIPO) or Hirschsprung's disease (HD) are challenging to diagnose and treat appropriately. Thorough assessment of patient history, radiographic exams, endoscopy, and motility measurements aid in diagnostic workup, yet underlying histology is the cornerstone to enable a more distinct diagnosis of neuromuscular GI disorders. Traditionally, surgical procedures have been performed to obtain specimen suitable for accurate histologic analysis...
July 6, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/28676237/spinal-muscular-atrophy-carriers-with-two-smn1-copies
#16
Mawaddah Ar Rochmah, Hiroyuki Awano, Tomonari Awaya, Nur Imma Fatimah Harahap, Naoya Morisada, Yoshihiro Bouike, Toshio Saito, Yuji Kubo, Kayoko Saito, Poh San Lai, Ichiro Morioka, Kazumoto Iijima, Hisahide Nishio, Masakazu Shinohara
BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder. Over 95% of SMA patients have homozygous deletions of the SMA-causative gene, SMN1. Thus, SMA carriers are usually diagnosed based on SMN1 copy number, with one copy indicating SMA carrier status. However, two SMN1 copies do not always exclude carrier status. In this study, we identified SMA carriers with two SMN1 copies. SUBJECTS AND METHODS: From 33 families, 65 parents of genetically confirmed SMA patients were tested to determine SMA carrier status...
July 1, 2017: Brain & Development
https://www.readbyqxmd.com/read/28676062/prevalence-incidence-and-carrier-frequency-of-5q-linked-spinal-muscular-atrophy-a-literature-review
#17
REVIEW
Ingrid E C Verhaart, Agata Robertson, Ian J Wilson, Annemieke Aartsma-Rus, Shona Cameron, Cynthia C Jones, Suzanne F Cook, Hanns Lochmüller
Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive, neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor neuron degeneration and variable presentation in relation to onset and severity. A prevalence of approximately 1-2 per 100,000 persons and incidence around 1 in 10,000 live births have been estimated with SMA type I accounting for around 60% of all cases. Since SMA is a relatively rare condition, studies of its prevalence and incidence are challenging...
July 4, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28675601/proteasomal-activity-based-probes-mark-protein-homeostasis-in-muscles
#18
Vered Raz, Yotam Raz, Guillem Paniagua-Soriano, Jacomina Cornelia Roorda, Cyriel Olie, Muhammad Riaz, Bogdan I Florea
BACKGROUND: Protein homeostasis, primarily regulated by the ubiquitin-proteasome system is crucial for proper function of cells. In tissues of post-mitotic cells, the impaired ubiquitin-proteasome system is found in a wide range of neuromuscular disorders. Activity-based probes (ABPs) measure proteasomal proteolytic subunits and can be used to report protein homeostasis. Despite the crucial role of the proteasome in neuromuscular pathologies, ABPs were not employed in muscle cells and tissues, and measurement of proteasomal activity was carried out in vitro using low-throughput procedures...
July 3, 2017: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/28671186/transplantation-of-enteric-nervous-system-stem-cells-rescues-nitric-oxide-synthase-deficient-mouse-colon
#19
Conor J McCann, Julie E Cooper, Dipa Natarajan, Benjamin Jevans, Laura E Burnett, Alan J Burns, Nikhil Thapar
Enteric nervous system neuropathy causes a wide range of severe gut motility disorders. Cell replacement of lost neurons using enteric neural stem cells (ENSC) is a possible therapy for these life-limiting disorders. Here we show rescue of gut motility after ENSC transplantation in a mouse model of human enteric neuropathy, the neuronal nitric oxide synthase (nNOS(-/-)) deficient mouse model, which displays slow transit in the colon. We further show that transplantation of ENSC into the colon rescues impaired colonic motility with formation of extensive networks of transplanted cells, including the development of nNOS(+) neurons and subsequent restoration of nitrergic responses...
July 3, 2017: Nature Communications
https://www.readbyqxmd.com/read/28670500/peculiar-clinical-presentation-of-coxsackievirus-b4-infection-neonatal-restrictive-cardiomyopathy
#20
Pauline Le Van Quyen, Philippe Desprez, Angelo Livolsi, Véronique Lindner, Samira Fafi-Kremer, Pauline Helms, Maria Cristina Antal
Introduction  Restrictive cardiomyopathy in fetuses and neonates is extremely rare and has a poor outcome. Its etiology in neonates is elusive: metabolic diseases (e.g., Gaucher, Hurler syndrome), neuromuscular disorders (e.g., muscular dystrophies, myofibrillar myopathies), or rare presentation of genetic syndromes (e.g., Coffin-Lowry syndrome) account for a minority of the cases, the majority remaining idiopathic. Case Study  We report the case of a 17-day-old male infant presenting cardiogenic shock following a restrictive dysfunction of the left ventricle...
April 2017: American Journal of Perinatology Reports
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