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https://www.readbyqxmd.com/read/28222093/active-zone-proteins-are-transported-via-distinct-mechanisms-regulated-by-par-1-kinase
#1
Kara R Barber, Julia Tanquary, Keegan Bush, Amanda Shaw, Michael Woodson, Michael Sherman, Yogesh P Wairkar
Disruption of synapses underlies a plethora of neurodevelopmental and neurodegenerative disease. Presynaptic specialization called the active zone plays a critical role in the communication with postsynaptic neuron. While the role of many proteins at the active zones in synaptic communication is relatively well studied, very little is known about how these proteins are transported to the synapses. For example, are there distinct mechanisms for the transport of active zone components or are they all transported in the same transport vesicle? Is active zone protein transport regulated? In this report we show that overexpression of Par-1/MARK kinase, a protein whose misregulation has been implicated in Autism spectrum disorders (ASDs) and neurodegenerative disorders, lead to a specific block in the transport of an active zone protein component- Bruchpilot at Drosophila neuromuscular junctions...
February 21, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28220607/neurological-and-spinal-manifestations-of-the-ehlers-danlos-syndromes
#2
Fraser C Henderson, Claudiu Austin, Edward Benzel, Paolo Bolognese, Richard Ellenbogen, Clair A Francomano, Candace Ireton, Petra Klinge, Myles Koby, Donlin Long, Sunil Patel, Eric L Singman, Nicol C Voermans
The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin extensibility, and tissue fragility. This communication briefly reports upon the neurological manifestations that arise including the weakness of the ligaments of the craniocervical junction and spine, early disc degeneration, and the weakness of the epineurium and perineurium surrounding peripheral nerves. Entrapment, deformation, and biophysical deformative stresses exerted upon the nervous system may alter gene expression, neuronal function and phenotypic expression...
February 21, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28218388/the-new-neuromuscular-disease-related-with-defects-in-the-asc-1-complex-report-of-a-second-case-confirms-ascc1-involvement
#3
Jorge Oliveira, Márcia Martins, Rosário Pinto Leite, Mário Sousa, Rosário Santos
Next-generation sequencing technology aided the identification of the underlying genetic cause in a female newborn with a severe neuromuscular disorder. The patient presented generalized hypotonia, congenital bone fractures, lack of spontaneous movements and poor respiratory effort. She died within the first days of life. Karyotyping and screening for several genes related with neuromuscular diseases all tested negative. A male sibling was subsequently born with the same clinical presentation. Whole-exome sequencing was performed with variant filtering assuming a recessive disease model...
February 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28214297/advancing-neuromuscular-ultrasound-through-research-finding-common-sound
#4
Lisa Hobson-Webb, Michael S Cartwright
INTRODUCTION: Neuromuscular ultrasound (NMUS) is an accepted, but underutilized, diagnostic tool in the evaluation of neuromuscular disorders. The lack of uniform high-quality standards in published research and in clinical practice has been a limitation to its growth. METHODS: This article aims to address the shortcomings of NMUS research and establish basic standards to guide further work in the field. RESULTS: A review of the basic types of NMUS research papers is presented, along with the elements that each should include...
February 18, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28213045/identification-of-the-causes-for-chronic-hypokalemia-importance-of-urinary-sodium-and-chloride-excretion
#5
Kun-Lin Wu, Chih-Jen Cheng, Chih-Chen Sung, Ming-Hua Tseng, Yu-Juei Hsu, Sung-Sen Yang, Tom Chau, Shih-Hua Lin
BACKGROUND: Uncovering the correct diagnosis of chronic hypokalemia with potassium (K(+)) wasting from the kidneys or gut can be fraught with challenges. We identified clinical and laboratory parameters helpful for differentiating the causes of chronic hypokalemia. METHODS: Normotensive patients referred to our tertiary academic medical center for the evaluation of chronic hypokalemia were prospectively enrolled over five years. Clinical features, laboratory examinations-including blood and spot urine electrolytes, acid-base status, biochemistries and hormones-as well as genetic analysis were determined...
February 14, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/28209627/characterization-of-a-blood-spot-creatine-kinase-skeletal-muscle-isoform-immunoassay-for-high-throughput-newborn-screening-of-duchenne-muscular-dystrophy
#6
Stuart J Moat, Teemu Korpimäki, Petra Furu, Harri Hakala, Hanna Polari, Liisa Meriö, Pauliina Mäkinen, Ian Weeks
BACKGROUND: Duchenne muscular dystrophy (DMD) is a progressive, lethal X-linked neuromuscular disorder with an average worldwide incidence of 1:5000. Blood spot creatine kinase (CK) enzyme assays previously used in newborn screening programs for DMD are nonspecific because measured CK enzyme activity is attributable to 3 isoenzyme forms of CK (CK-MM, CK-MB, and CK-BB) and it is the CK-MM isoform that is found predominantly in skeletal muscle. CK-MM is increased in boys with DMD owing to muscle damage...
February 16, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28202889/treatment-of-transthyretin-familial-amyloid-polyneuropathy-with-tafamidis-a-case-report
#7
Yoshimichi Miyazaki
INTRODUCTION: Familial amyloid polyneuropathy (FAP) is a rare hereditary disorder caused by mutations in the transthyretin (TTR) gene. Tafamidis is a TTR stabilizer able to prevent TTR tetramer dissociation, and several studies have demonstrated its safety and efficacy at slowing the progression of neuropathy in FAP caused by the TTR Val30Met mutation. However, nerve conduction study (NCS) and electromyography (EMG) results have yet to be reported in relation to FAP progression during tafamidis therapy...
2017: Nihon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics
https://www.readbyqxmd.com/read/28199191/trans-synaptic-homeostasis-at-the-myasthenic-neuromuscular-junction
#8
Jaap J Plomp
Properly sustained impulse transmission at the neuromuscular junction (NMJ) is crucial for successful muscle contraction. To guarantee this, NMJs not only possess a considerable safety factor in transmission but also have the ability to adjust the presynaptic acetylcholine release level to cope with any changes in the postsynaptic neurotransmitter sensitivity. This review will provide overview on the discovery and characterization of this synaptic homeostatic mechanism, especially in the condition of the neuromuscular disorder myasthenia gravis (MG) where the postsynaptic transmitter sensitivity at the NMJ becomes severely reduced due to autoimmune attack of acetylcholine receptors...
March 1, 2017: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/28196412/mapk3-at-the-autism-linked-human-16p11-2-locus-influences-precise-synaptic-target-selection-at-drosophila-larval-neuromuscular-junctions
#9
Sang Mee Park, Hae Ryoun Park, Ji Hye Lee
Proper synaptic function in neural circuits requires precise pairings between correct pre- and post-synaptic partners. Errors in this process may underlie development of neuropsychiatric disorders, such as autism spectrum disorder (ASD). Development of ASD can be influenced by genetic factors, including copy number variations (CNVs). In this study, we focused on a CNV occurring at the 16p11.2 locus in the human genome and investigated potential defects in synaptic connectivity caused by reduced activities of genes located in this region at Drosophila larval neuromuscular junctions, a well-established model synapse with stereotypic synaptic structures...
February 15, 2017: Molecules and Cells
https://www.readbyqxmd.com/read/28195574/muscle-specific-crispr-cas9-dystrophin-gene-editing-ameliorates-pathophysiology-in-a-mouse-model-for-duchenne-muscular-dystrophy
#10
Niclas E Bengtsson, John K Hall, Guy L Odom, Michael P Phelps, Colin R Andrus, R David Hawkins, Stephen D Hauschka, Joel R Chamberlain, Jeffrey S Chamberlain
Gene replacement therapies utilizing adeno-associated viral (AAV) vectors hold great promise for treating Duchenne muscular dystrophy (DMD). A related approach uses AAV vectors to edit specific regions of the DMD gene using CRISPR/Cas9. Here we develop multiple approaches for editing the mutation in dystrophic mdx(4cv) mice using single and dual AAV vector delivery of a muscle-specific Cas9 cassette together with single-guide RNA cassettes and, in one approach, a dystrophin homology region to fully correct the mutation...
February 14, 2017: Nature Communications
https://www.readbyqxmd.com/read/28188264/immortalized-human-myotonic-dystrophy-muscle-cell-lines-to-assess-therapeutic-compounds
#11
Arandel Ludovic, Polay-Espinosa Micaela, Matloka Magdalena, Bazinet Audrey, De Dea Diniz Damily, Naouar Naïra, Rau Frédérique, Jollet Arnaud, Edom-Vovard Frédérique, Mamchaoui Kamel, Tarnopolsky Mark, Puymirat Jack, Battail Christophe, Boland Anne, Deleuze Jean-Francois, Mouly Vincent, Klein F Arnaud, Furling Denis
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are autosomal dominant neuromuscular diseases caused by microsatellite expansions and belong to the family of RNA dominant disorders. Availability of cellular models in which the DM mutation is expressed within its natural context is essential to facilitate efforts to identify new therapeutic compounds. Here we generated immortalized DM1 and DM2 human muscle cell lines that display nuclear RNA-aggregates of expanded repeats, a hallmark of myotonic dystrophy. Selected clones of DM1 and DM2 immortalized myoblasts behave as parental primary myoblasts with a reduced fusion capacity of immortalized DM1 myoblasts when compared to control and DM2 cells...
February 10, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28187801/management-of-acute-neuromuscular-disorders
#12
E F M Wijdicks
Imminent neuromuscular respiratory failure is recognized by shortness of breath, restlessness, and tachycardia and is often followed by tachypnea, constantly interrupting speech, asynchronous breathing and sometimes paradoxical breathing and use of scalene and sternocleidomastoid muscles. Once a patient presents with such a constellation of signs, there are some difficult decisions to be made and include assessment of the severity of respiratory failure and in particular when to intubate. Failure of the patient to manage secretions as a result of oropharyngeal weakness rather than neuromuscular respiratory weakness may be another reason for acute intubation...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28181267/longitudinal-course-of-lung-function-in-myotonic-dystrophy-type-1
#13
Catherine Thil, Nelly Agrinier, Bruno Chenuel, Mathias Poussel
INTRODUCTION: Quality of life and prognosis among patients with myotonic dystrophy type 1 (DM1) depend on the degree of respiratory impairment. However the changes over time in pulmonary function in DM1 have not been clearly described. METHODS: We retrospectively reviewed pulmonary function tests of 80 DM1 patients followed for at least 5 years. RESULTS: During 9.02 ± 3.4 years of follow-up, the average annual changes were: forced vital capacity (FVC) -0...
February 9, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28177173/perioperative-considerations-in-infantile-neuroaxonal-dystrophy
#14
Jina L Sinskey, Robert S Holzman
Infantile neuroaxonal dystrophy is a rare neurological disorder that is universally fatal with life expectancy under 10 years. A 10-year-old boy with infantile neuroaxonal dystrophy and severe neuromuscular scoliosis underwent posterior spinal fusion following halo traction. He was successfully extubated to bilevel positive airway pressure on postoperative day 3 and discharged home on postoperative day 11. Infantile neuroaxonal dystrophy presents several perioperative challenges including concerns for difficult intubation and respiratory dysfunction...
February 8, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28175990/starplasty-tracheostomy-case-series-and-literature-review
#15
Yehuda Schwarz, Nidal Muhanna, David Raveh, Chanan Shaul, Sarit Shahroor, Uri Peleg, Pierre Attal, Jean-Yves Sichel
OBJECTIVES: The starplasty tracheostomy (SPT) technique has been suggested to reduce the short-term complications of tracheostomy, including accidental decannulation and pneumothorax. The aim of the present study was to conduct a review of key parameters prior to and following treatment of neonates and children with the SPT technique, including indications, complications, perioperative department stay, and overall length of stay in one University-Affiliated Medical Center. METHODS: A retrospective chart review of all children under the age of 18 underwent SPT in a single center between February 2006 and January 2012...
February 7, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28170216/proteins-containing-expanded-polyglutamine-tracts-and-neurodegenerative-disease
#16
Adewale Adegbuyiro, Faezeh Sedighi, Albert W Pilkington, Sharon Groover, Justin Legleiter
Several hereditary neurological and neuromuscular diseases are caused by an abnormal expansion of trinucleotide repeats. To date, there have been 10 of these trinucleotide repeat disorders associated with an expansion of the codon CAG encoding glutamine (Q). For these polyglutamine (polyQ) diseases, there is a critical threshold length of the CAG repeat required for disease, and further expansion beyond this threshold is correlated with age of onset and symptom severity. PolyQ expansion in the translated proteins promotes their self-assembly into a variety of oligomeric and fibrillar aggregate species that accumulate into the hallmark proteinaceous inclusion bodies associated with each disease...
February 21, 2017: Biochemistry
https://www.readbyqxmd.com/read/28159584/botulinum-toxin-in-the-management-of-head-and-neck-disorders
#17
REVIEW
Ravleen Nagi, Deepa Jatti Patil, Shashikant Sahu, Supreet Jain, Giridhar S Naidu
Botulinum toxin is a polypeptide protoxin synthesized by Clostridium botulinum that results in localized reduction of muscle activity by inhibiting acetylcholine release at the neuromuscular junction. In 2004, the US Food and Drug Administration approved its application in the treatment of various medical conditions, such as facial wrinkles, strabismus, cervical dystonia, blepharospasm, and hyperhidrosis. Later, its application extended to improving dental esthetics and gummy smile. It was found to be a safe and effective alternative to medical therapy to treat various head and neck disorders that have a neurologic component...
December 7, 2016: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/28159100/social-and-economic-impacts-of-managing-sleep-hypoventilation-syndromes
#18
REVIEW
Dianne M Augelli, Ana C Krieger
Hypoventilation during sleep is often an early indicator of the development of respiratory failure. Alterations in ventilation are more pronounced during sleep and often present before the onset of daytime symptoms. This article discusses the most common sleep-related hypoventilatory disorders and recommended treatment approaches for obesity hypoventilation, chronic obstructive pulmonary disease, and neuromuscular disorders. Accurate diagnosis and appropriate treatment is of paramount importance because of the impact on individual health outcomes and overall cost of health care delivery...
March 2017: Sleep Medicine Clinics
https://www.readbyqxmd.com/read/28157077/altered-hip-mechanics-and-patellofemoral-pain-a-review-of-literature
#19
Gholamhassan Mirzaie, Mehrnaz Kajbafvala, Abbas Rahimi, Farideh Dehghan Manshadi, Khosro Khademi Kalantari
Patellofemoral pain (PFP) is a common knee disorder in orthopedic clinics. In the last decade, several investigations have considered the role of proximal factors in addition to local and distal factors in development of PFP. There is a hypothesis which suggests that impaired neuromuscular control and altered hip joint kinematic affect tibiofemoral and patellofemoral biomechanics. Hence, PFP may develop as a result. This article reviews studies assessing the relationship between altered hip mechanics and PFP...
May 5, 2016: Ortopedia, Traumatologia, Rehabilitacja
https://www.readbyqxmd.com/read/28131627/down-regulation-of-kir2-6-channel-by-c-termini-mutation-d252n-and-its-association-with-the-susceptibility-to-thyrotoxic-periodic-paralysis
#20
Rolf Matias Paninka, Estevão Carlos-Lima, Susan C Lindsey, Ilda S Kunii, Magnus R Dias-da-Silva, Manoel Arcisio-Miranda
Inward rectifying potassium - Kir - channels drive the resting potential to potassium reversal potential and, when disrupted, might be related to muscular diseases. Recently, Thyrotoxic Periodic Paralysis (TPP) has emerged as a channelopathy related to mutations in KCNJ18 gene, which encodes Kir2.6 channel. TPP is a neuromuscular disorder characterized by a triad of muscle weakness, hypokalemia, and thyrotoxicosis, the latter being essential for the crisis. Direct sequencing revealed two heterozygous mutations - D252N and R386C - in two TPP patients...
January 25, 2017: Neuroscience
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