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Spinal Muscle Atrophy

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https://www.readbyqxmd.com/read/28804760/autopsy-case-of-the-c12orf65-mutation-in-a-patient-with-signs-of-mitochondrial-dysfunction
#1
Hideaki Nishihara, Masatoshi Omoto, Masaki Takao, Yujiro Higuchi, Michiaki Koga, Motoharu Kawai, Hiroo Kawano, Eiji Ikeda, Hiroshi Takashima, Takashi Kanda
OBJECTIVE: To describe the autopsy case of a patient with a homozygous 2-base deletion, c171_172delGA (p.N58fs), in the C12orf65 gene. METHODS: We described the clinical history, neuroimaging data, neuropathology, and genetic analysis of the patients with C12orf65 mutations. RESULTS: The patient was a Japanese woman with a history of delayed psychomotor development, primary amenorrhea, and gait disturbance in her 20s. She was hospitalized because of respiratory failure at the age of 60...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28799578/nusinersen-antisense-oligonucleotide-to-increase-smn-protein-production-in-spinal-muscular-atrophy
#2
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
#3
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/28792153/clinical-characteristics-of-spinal-muscular-atrophy-in-korea-confirmed-by-genetic-analysis
#4
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/28774686/does-stabilization-of-the-degenerative-lumbar-spine-itself-produce-multifidus-atrophy
#5
Young Eun Kim, Hae Won Choi
The effect of stabilization of the degenerative segment on changes in the pattern of paraspinal muscle activity was investigated using a previously developed musculoskeletal model. Muscle activity change depending on L4-L5 segment stabilization with and without taking into account the presence of multifidus atrophy according to direct invasion of the back muscle during surgery (MADIBM) was analysed in erect standing and 20° flexed postures. For the stabilization of the degenerative segment, a fusion or non-fusion stabilization with a pedicle-based dynamic stabilization system (PBDS) was applied...
July 31, 2017: Medical Engineering & Physics
https://www.readbyqxmd.com/read/28771723/-prion-like-propagation-of-the-synucleinopathy-of-m83-transgenic-mice-depends-on-the-mouse-genotype-and-type-of-inoculum
#6
Dorian Sargent, Jérémy Verchere, Corinne Lazizzera, Damien Gaillard, Latifa Lakhdar, Nathalie Streichenberger, Eric Morignat, Dominique Bétemps, Thierry Baron
The M83 transgenic mouse is a model of human synucleinopathies that develops severe motor impairment correlated with accumulation of the pathological Ser129-phosphorylated α-synuclein (α-syn(P) ) in the brain and spinal cord. M83 disease can be accelerated by intracerebral inoculation of brain extracts from sick M83 mice. This has also recently been described using peripheral routes, injecting recombinant preformed α-syn fibrils into the muscle or the peritoneum. Here, we inoculated homozygous and/or hemizygous M83 neonates via the intraperitoneal and/or intracerebral routes with two different brain extracts: one from sick M83 mice inoculated with brain extract from other sick M83 mice, and the other derived from a human multiple system atrophy (MSA) source passaged in M83 mice...
August 3, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28768735/therapeutic-strategies-for-spinal-muscular-atrophy-smn-and-beyond
#7
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/28762503/mechanomyography-based-wearable-monitor-of-quasi-isometric-muscle-fatigue-for-motor-neural-prostheses
#8
Eddy Krueger, Lana Popović-Maneski, Percy Nohama
A motor neural prosthesis based on surface functional electrical stimulation (sFES) can restore functional movement (e.g., standing, walking) in patients with a spinal cord injury (SCI). sFES generates muscle contractions in antigravity muscles and allows balance-assisted standing. This induced standing has several benefits, such as improved cardiovascular function, decreased incidence of urinary infections, reduced joint contractures, and muscle atrophy. The duration of sFES assisted standing is limited due to the quick onset of muscle fatigue...
August 1, 2017: Artificial Organs
https://www.readbyqxmd.com/read/28761434/brain-injury-in-combination-with-tacrolimus-promotes-the-regeneration-of-injured-peripheral-nerves
#9
Xin-Ze He, Jian-Jun Ma, Hao-Qi Wang, Tie-Min Hu, Bo Sun, Yun-Feng Gao, Shi-Bo Liu, Wei Wang, Pei Wang
Both brain injury and tacrolimus have been reported to promote the regeneration of injured peripheral nerves. In this study, before transection of rat sciatic nerve, moderate brain contusion was (or was not) induced. After sciatic nerve injury, tacrolimus, an immunosuppressant, was (or was not) intraperitoneally administered. At 4, 8 and 12 weeks after surgery, Masson's trichrome, hematoxylin-eosin, and toluidine blue staining results revealed that brain injury or tacrolimus alone or their combination alleviated gastrocnemius muscle atrophy and sciatic nerve fiber impairment on the experimental side, simultaneously improved sciatic nerve function, and increased gastrocnemius muscle wet weight on the experimental side...
June 2017: Neural Regeneration Research
https://www.readbyqxmd.com/read/28748488/association-between-paraspinal-muscle-morphology-clinical-symptoms-and-functional-status-in-patients-with-lumbar-spinal-stenosis
#10
Maryse Fortin, Àron Lazáry, Peter Paul Varga, Michele C Battié
PURPOSE: Lumbar spinal stenosis (LSS) is a disabling condition associated with narrowing of the spinal canal or vertebral foramina. Paraspinal muscle atrophy and fatty infiltration have been reported in patients with chronic LBP and disc herniation. However, very few imaging studies have examined paraspinal muscle morphology and composition in patients with LSS. The purpose of this study was to investigate the association of paraspinal muscle size, composition and asymmetry with functional status in patients with LSS...
July 26, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28729373/the-importance-of-managing-the-patient-and-not-the-gene-expanded-phenotype-of-gle1-associated-arthrogryposis
#11
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
#12
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
https://www.readbyqxmd.com/read/28709751/does-muscle-atrophy-and-fatty-infiltration-plateau-or-persist-in-chronic-spinal-cord-injury
#13
Cameron D Moore, B Catharine Craven, Lehana Thabane, Alexandra Papaioannou, Jonathan D Adachi, Lora M Giangregorio
Atrophy and fatty infiltration of lower extremity muscle after spinal cord injury (SCI) predisposes individuals to metabolic syndrome and related diabetes and cardiovascular disease. The objective of this study was to prospectively measure changes in muscle atrophy and fat content of distal lower extremity muscles and explore related factors in a cohort of adults with chronic SCI and diverse impairments. Muscle cross-sectional area and density were calculated from peripheral quantitative computed tomography scans of the 66% site of the calf from 70 participants with chronic SCI (50 male, mean age 49 years, C2-T12, American Spinal Injury Association Impairment Scale A-D) at study enrollment and annually for 2 years...
July 11, 2017: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/28688959/from-gene-to-therapy-in-spinal-and-bulbar-muscular-atrophy-are-we-there-yet
#14
REVIEW
Maria Pennuto, Carlo Rinaldi
Abnormal polyglutamine expansions in the androgen receptor (AR) cause a muscular condition, known as Kennedy's disease or spinal and bulbar muscular atrophy (SBMA). The disease is transmitted in an X-linked fashion and is clinically characterized by weakness, atrophy and fasciculations of the limb and bulbar muscles as a result of a toxic gain-of-function of the mutant protein. Notably, affected males also show signs of androgen insensitivity, such as gynaecomastia and reduced fertility. The characterization of the natural history of the disease, the increasing understanding of the mechanism of pathogenesis and the elucidation of the functions of normal and mutant AR have offered a momentum for developing a rational therapeutic strategy for this disease...
July 5, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28680390/the-role-of-the-heat-shock-protein-b8-hspb8-in-motoneuron-diseases
#15
REVIEW
Paola Rusmini, Riccardo Cristofani, Mariarita Galbiati, Maria E Cicardi, Marco Meroni, Veronica Ferrari, Giulia Vezzoli, Barbara Tedesco, Elio Messi, Margherita Piccolella, Serena Carra, Valeria Crippa, Angelo Poletti
Amyotrophic lateral sclerosis (ALS) and spinal and bulbar muscular atrophy (SBMA) are two motoneuron diseases (MNDs) characterized by aberrant protein behavior in affected cells. In familial ALS (fALS) and in SBMA specific gene mutations lead to the production of neurotoxic proteins or peptides prone to misfold, which then accumulate in form of aggregates. Notably, some of these proteins accumulate into aggregates also in sporadic ALS (sALS) even if not mutated. To prevent proteotoxic stresses detrimental to cells, misfolded and/or aggregated proteins must be rapidly removed by the protein quality control (PQC) system...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28668232/effect-of-salbutamol-on-respiratory-muscle-strength-in-spinal-muscular-atrophy
#16
Sonia Khirani, Ivana Dabaj, Alessandro Amaddeo, Jorge Olmo Arroyo, Jacques Ropers, Stéphane Tirolien, Véronique Coudert, Brigitte Estournet, Brigitte Fauroux, Susana Quijano-Roy
BACKGROUND: Oral salbutamol has shown clinical benefits in spinal muscular atrophy (SMA). We studied its effect on the respiratory muscle strength in children with different types of SMA. METHODS: Lung and respiratory muscle functions were assessed in children receiving daily oral salbutamol for at least one year. The respiratory data of age-matched SMA II historical control subjects were compared with data of SMA II patients receiving salbutamol. RESULTS: Seven children (6...
August 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28645604/posterior-paramedian-approach-to-a-ventrally-located-spinal-meningioma
#17
Han Soo Chang
BACKGROUND: To approach a ventral spinal pathology, a lateral viewing angle is often required. However, lateral approaches to the spine are usually more technically demanding and require certain amount of surgical expertise. In this report, we describe a simple and easy technique to obtain the lateral viewing angle to the ventral spinal pathology. CASE DESCRIPTION: The technique is demonstrated in a ventrally located meningioma at C2 level. Axial magnetic resonance imaging (MRI) showed a square posterior shift of the spinal cord with little lateral space, which necessitated a more lateral viewing angle than the conventional posterior approach...
June 20, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28644430/the-clinical-landscape-for-sma-in-a-new-therapeutic-era
#18
REVIEW
K Talbot, E F Tizzano
Despite significant advances in basic research, the treatment of degenerative diseases of the nervous system remains one of the greatest challenges for translational medicine. The childhood onset motor neuron disorder spinal muscular atrophy (SMA) has been viewed as one of the more tractable targets for molecular therapy, due to a detailed understanding of the molecular genetic basis of the disease. In SMA, inactivating mutations in the SMN1 gene can be partially compensated for by limited expression of SMN protein from a variable number of copies of the SMN2 gene, which provides both a molecular explanation for phenotypic severity and a target for therapy...
June 23, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28637335/astrocyte-produced-mir-146a-as-a-mediator-of-motor-neuron-loss-in-spinal-muscular-atrophy
#19
Samantha L Sison, Teresa N Patitucci, Emily R Seminary, Eric Villalon, Christian L Lorson, Allison D Ebert
Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, is caused by loss of the survival motor neuron-1 (SMN1) gene, which leads to motor neuron loss, muscle atrophy, respiratory distress, and death. Motor neurons exhibit the most profound loss, but the mechanisms underlying disease pathogenesis are not fully understood. Recent evidence suggests that motor neuron extrinsic influences, such as those arising from astrocytes, contribute to motor neuron malfunction and loss. Here we investigated both loss-of-function and toxic gain-of-function astrocyte mechanisms that could play a role in SMA pathology...
June 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28635954/phenotypic-extremes-of-bicd2-opathies-from-lethal-congenital-muscular-atrophy-with-arthrogryposis-to-asymptomatic-with-subclinical-features
#20
Markus Storbeck, Beate Horsberg Eriksen, Andreas Unger, Irmgard Hölker, Ingvild Aukrust, Lilian A Martínez-Carrera, Wolfgang A Linke, Andreas Ferbert, Raoul Heller, Matthias Vorgerd, Gunnar Houge, Brunhilde Wirth
Heterozygous variants in BICD cargo adapter 2 (BICD2) cause autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 (SMALED2). The disease is usually characterized by a benign or slowly progressive, congenital or early onset muscle weakness and atrophy that mainly affects the lower extremities, although some affected individuals show involvement of the arms and the shoulder girdle. Here we report unusual extremes of BICD2-related diseases: A severe form of congenital muscular atrophy with arthrogryposis multiplex, respiratory insufficiency and lethality within four months...
September 2017: European Journal of Human Genetics: EJHG
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