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Spinal muscular atrophy

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https://www.readbyqxmd.com/read/28813086/translation-and-validation-of-the-life-satisfaction-index-for-adolescents-scale-with-neuromuscular-disorders-lsi-a-brazil
#1
Valdecir Antonio Simon, Edmar Zanoteli, Margarete Andreozzi Vaz Pereira Simon, Maria Bernadete Dutra de Resende, Umbertina Conti Reed
Objective: To validate the Life Satisfaction Index for Adolescents (LSI-A) scale, parent version and patient version, for Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA) and limb-girdle muscular dystrophy (LGMD). Methods: The parent version of the instrument was divided into Groups A, B, C and D; and the patient version, divided into B, C and D. For the statistical calculation, the following tests were used: Cronbach's α, ICC, Pearson and the ROC Curve...
August 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28812043/swallowing-markers-in-spinal-and-bulbar-muscular-atrophy
#2
Haruhiko Banno, Masahisa Katsuno, Keisuke Suzuki, Seiya Tanaka, Noriaki Suga, Atsushi Hashizume, Tomoo Mano, Amane Araki, Hirohisa Watanabe, Yasushi Fujimoto, Masahiko Yamamoto, Gen Sobue
OBJECTIVE: We examined the characteristics of dysphagia in spinal and bulbar muscular atrophy, a hereditary neuromuscular disease causing weakness of limb, facial, and oropharyngeal muscles via a videofluoroscopic swallowing study, and investigated the plausibility of using these outcome measures for quantitative analysis. METHODS: A videofluoroscopic swallowing study was performed on 111 consecutive patients with genetically confirmed spinal and bulbar muscular atrophy and 53 age- and sex-matched healthy controls...
August 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28811488/deregulation-of-zpr1-causes-respiratory-failure-in-spinal-muscular-atrophy
#3
Naresh K Genabai, Annapoorna Kannan, Saif Ahmad, Xiaoting Jiang, Kanchan Bhatia, Laxman Gangwani
Spinal muscular atrophy (SMA) is caused by the low levels of survival motor neuron (SMN) protein and is characterized by motor neuron degeneration and muscle atrophy. Respiratory failure causes death in SMA but the underlying molecular mechanism is unknown. The zinc finger protein ZPR1 interacts with SMN. ZPR1 is down regulated in SMA patients. We report that ZPR1 functions downstream of SMN to regulate HoxA5 levels in phrenic motor neurons that control respiration. Spatiotemporal inactivation of Zpr1 gene in motor neurons down-regulates HoxA5 and causes defects in the function of phrenic motor neurons that results in respiratory failure and perinatal lethality in mice...
August 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28808928/regulation-of-survival-motor-neuron-protein-by-the-nuclear-factor-kappa-b-pathway-in-mouse-spinal-cord-motoneurons
#4
Saravanan Arumugam, Stefka Mincheva-Tasheva, Ambika Periyakaruppiah, Sandra de la Fuente, Rosa M Soler, Ana Garcera
Survival motor neuron (SMN) protein deficiency causes the genetic neuromuscular disorder spinal muscular atrophy (SMA), characterized by spinal cord motoneuron degeneration. Since SMN protein level is critical to disease onset and severity, analysis of the mechanisms involved in SMN stability is one of the central goals of SMA research. Here, we describe the role of several members of the NF-κB pathway in regulating SMN in motoneurons. NF-κB is one of the main regulators of motoneuron survival and pharmacological inhibition of NF-κB pathway activity also induces mouse survival motor neuron (Smn) protein decrease...
August 14, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28803817/6mwt-can-identify-type-3-sma-patients-with-neuromuscular-junction-dysfunction
#5
REVIEW
Maria Carmela Pera, Marco Luigetti, Marika Pane, Giorgia Coratti, Nicola Forcina, Lavinia Fanelli, Elena S Mazzone, Laura Antonaci, Leonardo Lapenta, Concetta Palermo, Domiziana Ranalli, Giuseppe Granata, Mauro Lomonaco, Serenella Servidei, Eugenio Mercuri
The aim of the study was to establish if the decrease in gait velocity on the 6 minute walk test relates to signs of neuromuscular junction dysfunction in spinal muscular atrophy type 3 patients. 6 minute walk test and low-rate repetitive nerve stimulation test were performed in fifteen ambulant patients with spinal muscular atrophy type 3 of age between 9 and 66 years. The 6 minute walk distance ranged between 66 and 575 m. The difference between the first and the 6th minute ranged between 0 and -69%. The low-rate repetitive nerve stimulation test measured in % of loss ranged between -31...
July 14, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28799578/nusinersen-antisense-oligonucleotide-to-increase-smn-protein-production-in-spinal-muscular-atrophy
#6
D M Paton
Patients with spinal muscular atrophy (SMA) have an autosomal recessive disease that limits their ability to produce survival motor neuron (SMN) protein in the CNS resulting in progressive wasting of voluntary muscles. Detailed studies over several years have demonstrated that phosphorothioate and 2'-O-methoxyethyl- modified antisense oligonucleotides (ASOs) targeting the ISS-N1 site increase SMN2 exon 7 inclusion, thus increasing levels of SMN protein in a dose- and time-dependent manner in liver, kidney and skeletal muscle, and CNS tissues only when administered intrathecally...
June 2017: Drugs of Today
https://www.readbyqxmd.com/read/28798877/previously-undiagnosed-spinal-and-bulbar-muscular-atrophy-as-a-cause-of-airway-obstruction-after-robot-assisted-laparoscopic-prostatectomy
#7
Miyuki Niki, Taihei Tachikawa, Yuka Sano, Hiroki Miyawaki, Aisa Matoi, Yukari Okano, Nobutaka Kariya, Tsuneo Tatara, Munetaka Hirose
BACKGROUND: Preoperative vocal cord paralysis is a risk factor for postoperative respiratory distress following extubation after general anesthesia. We present an unusual case where a geriatric patient developed airway obstruction after robot-assisted laparoscopic prostatectomy. CASE PRESENTATION: A 67-year-old male, who had suffered from left vocal cord paralysis of unknown etiology, was scheduled for robot-assisted laparoscopic prostatectomy (RALP). General anesthesia was performed without any problems...
2017: Case Reports in Anesthesiology
https://www.readbyqxmd.com/read/28797588/longitudinal-assessments-in-discordant-twins-with-sma
#8
Marika Pane, Leonardo Lapenta, Emanuela Abiusi, Roberto de Sanctis, Marco Luigetti, Concetta Palermo, Domiziana Ranalli, Stefania Fiori, Francesco Danilo Tiziano, Eugenio Mercuri
We report longitudinal clinical and neurophysiological assessments in twins affected by spinal muscular atrophy (SMA) with discordant phenotypes. The boy had the homozygous deletion of SMN1, a typical type 1 SMA course, and died at the age of eight months. His twin sister, asymptomatic at the time of the diagnosis in her brother, had the same genetic defect but she developed clinical and electrophysiological signs of type 2 SMA. The reduction of tendon reflexes was the first clinical sign at the age of 4 months, followed within few weeks, by a mild decrement in the amplitude of the compound motor action potentials...
July 8, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28794153/long-term-treatment-with-leuprorelin-for-spinal-and-bulbar-muscular-atrophy
#9
EDITORIAL
Hiroshi Mitsumoto
No abstract text is available yet for this article.
August 9, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28792153/clinical-characteristics-of-spinal-muscular-atrophy-in-korea-confirmed-by-genetic-analysis
#10
Heewon Hwang, Jung Hwan Lee, Young Chul Choi
The objective of this study was to review the clinical characteristics of patients with spinal muscular atrophy and to emphasize the importance of performing genetic mutational analysis at initial patient assessment. This is a single center oriented, retrospective, and descriptive study conducted in Seoul, South Korea. Genetic mutational analysis to detect the deletion of exon 7 of the SMN1 gene on chromosome 5q13 was performed by multiplex ligation-dependent probe amplification. Clinical features, electrodiagnostic study results, muscle biopsy results, and laboratory test results were reviewed from patient medical records...
September 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28780536/long-term-treatment-with-leuprorelin-for-spinal-and-bulbar-muscular-atrophy-natural-history-controlled-study
#11
Atsushi Hashizume, Masahisa Katsuno, Keisuke Suzuki, Akihiro Hirakawa, Yasuhiro Hijikata, Shinichiro Yamada, Tomonori Inagaki, Haruhiko Banno, Gen Sobue
OBJECTIVE: To evaluate the prognosis and progression of spinal and bulbar muscular atrophy (SBMA), a rare X-linked motor neuron disorder caused by trinucleotide repeat expansion in the AR (androgen receptor) gene, after long-term androgen suppression with leuprorelin acetate treatment. METHODS: In the present natural history-controlled study, 36 patients with SBMA treated with leuprorelin acetate for up to 84 months (leuprorelin acetate-treated group; LT group) and 29 patients with SBMA with no specific treatment (non-treated group; NT group) were analysed...
August 5, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28777284/outcomes-of-primary-posterior-spinal-fusion-for-scoliosis-in-spinal-muscular-atrophy-clinical-radiographic-and-pulmonary-outcomes-and-complications
#12
Joshua B Holt, Lori A Dolan, Stuart L Weinstein
BACKGROUND: Spinal muscular atrophy (SMA) is a progressive neuromuscular disease commonly including progressive scoliosis resulting in severe deformity and negatively affecting pulmonary function. Surgical correction and stabilization of this progressive deformity is generally recommended; however, the timing and method of surgical fixation remains controversial. METHODS: Retrospective review of clinical, radiographic, and pulmonary function data from 16 children with SMA and surgically treated scoliosis between 1985 and 2013...
August 2, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28775379/tia1-is-a-gender-specific-disease-modifier-of-a-mild-mouse-model-of-spinal-muscular-atrophy
#13
Matthew D Howell, Eric W Ottesen, Natalia N Singh, Rachel L Anderson, Joonbae Seo, Senthilkumar Sivanesan, Elizabeth M Whitley, Ravindra N Singh
Spinal muscular atrophy (SMA) is caused by deletions or mutations of Survival Motor Neuron 1 (SMN1) gene. The nearly identical SMN2 cannot compensate for SMN1 loss due to exon 7 skipping. The allele C (C (+/+)) mouse recapitulates a mild SMA-like phenotype and offers an ideal system to monitor the role of disease-modifying factors over a long time. T-cell-restricted intracellular antigen 1 (TIA1) regulates SMN exon 7 splicing. TIA1 is reported to be downregulated in obese patients, although it is not known if the effect is gender-specific...
August 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28768735/therapeutic-strategies-for-spinal-muscular-atrophy-smn-and-beyond
#14
REVIEW
Melissa Bowerman, Catherina G Becker, Rafael J Yáñez-Muñoz, Ke Ning, Matthew J A Wood, Thomas H Gillingwater, Kevin Talbot
Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder characterized by loss of motor neurons and muscle atrophy, generally presenting in childhood. SMA is caused by low levels of the survival motor neuron protein (SMN) due to inactivating mutations in the encoding gene SMN1 A second duplicated gene, SMN2, produces very little but sufficient functional protein for survival. Therapeutic strategies to increase SMN are in clinical trials, and the first SMN2-directed antisense oligonucleotide (ASO) therapy has recently been licensed...
August 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28757001/spinal-muscular-atrophy-a-changing-phenotype-beyond-the-clinical-trials
#15
REVIEW
Eduardo F Tizzano, Richard S Finkel
Spinal muscular atrophy is a monogenic, progressive motor neuron disorder caused by deletion or mutation in the SMN1 gene. A broad range of phenotypic severity, from very weak infants (Type 1) to ambulant children (type 3), is modified mainly by the number of copies of the "backup" SMN2 gene. Since the discovery of the role of both genes, basic research into the pathobiology of SMA, with in vitro and animal model studies, has identified therapeutic targets. Development of clinical outcome measures, natural history studies and standard of care guidelines have contributed to the development of protocols for therapeutic drugs now under clinical investigation...
May 17, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28755059/nusinersen-the-first-option-beyond-supportive-care-for-spinal-muscular-atrophy
#16
REVIEW
Vikas Maharshi, Shazia Hasan
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of spinal motor neurons and poses significant adverse outcome in affected population. Survival motor neuron 1 (SMN1) protein encoded by SMN1 gene located on 5q(13) is critical for survival and functioning of motor neurons. Almost identical gene SMN2, present on the same chromosome, produces a small truncated protein (SMN2) because of skipping of exon 7 from translation due to translation silent C6U substitution in exon 7 of SMN2 pre-mRNA transcript...
July 28, 2017: Clinical Drug Investigation
https://www.readbyqxmd.com/read/28753203/management-of-neuromuscular-diseases-and-spinal-muscular-atrophy-in-latin-america
#17
REVIEW
S Monges, A Rosa
Latin America (LA) has a population of ~645 million people distributed over 33 countries with marked political, cultural, and economic differences. In LA, patients with inherited neuromuscular diseases (NMD) often do not have access to specialized medical centres and many of them go undiagnosed. General management and care of spinal muscular dystrophy (SMA) patients in the region varies due to heterogeneous health care. An active generation of young clinical neurologists is being trained for the specialized care of SMA and other NM patients, both in the private and public sectors...
July 28, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28742140/short-16-mer-locked-nucleic-acid-splice-switching-oligonucleotides-restore-dystrophin-production-in-duchenne-muscular-dystrophy-myotubes
#18
Vanessa Borges Pires, Ricardo Simões, Kamel Mamchaoui, Célia Carvalho, Maria Carmo-Fonseca
Splice-switching antisense oligonucleotides (SSOs) offer great potential for RNA-targeting therapies, and two SSO drugs have been recently approved for treating Duchenne Muscular Dystrophy (DMD) and Spinal Muscular Atrophy (SMA). Despite promising results, new developments are still needed for more efficient chemistries and delivery systems. Locked nucleic acid (LNA) is a chemically modified nucleic acid that presents several attractive properties, such as high melting temperature when bound to RNA, potent biological activity, high stability and low toxicity in vivo...
2017: PloS One
https://www.readbyqxmd.com/read/28729373/the-importance-of-managing-the-patient-and-not-the-gene-expanded-phenotype-of-gle1-associated-arthrogryposis
#19
Queenie K-G Tan, Allyn McConkie-Rosell, Jane Juusola, Kathryn E Gustafson, Carolyn E Pizoli, Anne F Buckley, Yong-Hui Jiang
GLE1 encodes a protein important for mRNA export and appears to play roles in translation initiation and termination as well. Pathogenic variants in GLE1 mutations have been associated with lethal contracture syndrome (LCCS1) and Lethal Arthrogryposis with Anterior Horn Cell Disease (LAAHD); phenotypes reported in individuals include fetal akinesia and a severe form of motor neuron disease, typically presenting with prenatal symptoms and perinatal lethality. In this paper, we identified bi-allelic missense mutations in GLE1 by trio whole exome sequencing (WES) in an individual affected with congenital motor weakness and contractures as well as feeding and respiratory difficulties...
July 20, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28728573/splicing-arrays-reveal-novel-rbm10-targets-including-smn2-pre-mrna
#20
Leslie C Sutherland, Philippe Thibault, Mathieu Durand, Elvy Lapointe, Jose M Knee, Ariane Beauvais, Irina Kalatskaya, Sarah C Hunt, Julie J Loiselle, Justin G Roy, Sarah J Tessier, Gustavo Ybazeta, Lincoln Stein, Rashmi Kothary, Roscoe Klinck, Benoit Chabot
BACKGROUND: RBM10 is an RNA binding protein involved in message stabilization and alternative splicing regulation. The objective of the research described herein was to identify novel targets of RBM10-regulated splicing. To accomplish this, we downregulated RBM10 in human cell lines, using small interfering RNAs, then monitored alternative splicing, using a reverse transcription-PCR screening platform. RESULTS: RBM10 knockdown (KD) provoked alterations in splicing events in 10-20% of the pre-mRNAs, most of which had not been previously identified as RBM10 targets...
July 20, 2017: BMC Molecular Biology
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