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https://www.readbyqxmd.com/read/29123475/cerebello-cortical-differences-in-effective-connectivity-of-the-dominant-and-non-dominant-hand-during-a-visuomotor-paradigm-of-grip-force-control
#1
Eric Moulton, Cécile Galléa, Claire Kemlin, Romain Valabregue, Marc A Maier, Pavel Lindberg, Charlotte Rosso
Structural and functional differences are known to exist within the cortical sensorimotor networks with respect to the dominant vs. non-dominant hand. Similarly, the cerebellum, a key structure in the sensorimotor network with its cerebello-cortical connections, has been reported to respond differently when using the dominant vs. non-dominant hand. Several groups have already investigated causal interactions during diverse motor paradigms using effective connectivity but few have studied the larger visuomotor network, including key structures such as the parietal cortex and the cerebellum, with both hands...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/29116158/optical-mapping-of-the-dominant-frequency-of-brain-signal-oscillations-in-motor-systems
#2
Feng-Mei Lu, Yi-Feng Wang, Juan Zhang, Hua-Fu Chen, Zhen Yuan
Recent neuroimaging studies revealed that the dominant frequency of neural oscillations is brain-region-specific and can vary with frequency-specific reorganization of brain networks during cognition. In this study, we examined the dominant frequency in low-frequency neural oscillations represented by oxygenated hemoglobin measurements after the hemodynamic response function (HRF) deconvolution. Twenty-nine healthy college subjects were recruited to perform a serial finger tapping task at the frequency of 0...
November 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29075911/-histopathological-correlation-of-epiretinal-tissue-in-lamellar-macular-holes-and-macular-pseudoholes
#3
REVIEW
R G Schumann, D Vogt, C Haritoglou, F Hagenau, J Siedlecki, A Wolf, S G Priglinger
BACKGROUND: Using high-resolution spectral domain optical coherence tomography (SD-OCT), morphologically different types of epiretinal tissue can be distinguished in lamellar macular holes (LMH) and macular pseudoholes (MPH). OBJECTIVE: This article presents the results of histopathological characterization and differentiation of epiretinal tissue in eyes with LMH and MPH, which are classified based on a morphological differentiation in SD-OCT. MATERIAL AND METHODS: This review is based on the currently available literature and own data analyses...
October 26, 2017: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/29070895/language-lateralization-during-the-chinese-semantic-task-relates-to-the-contralateral-cerebra-cerebellar-interactions-at-rest
#4
Qing Gao, Zhongping Tao, Lintao Cheng, Jinsong Leng, Junping Wang, Chunshui Yu, Huafu Chen
Aiming to investigate whether handedness-related language lateralization is related to the intrinsic resting-state functional connectivity (RSFC) pattern within the language network, the present study integrated the information of functional activations during a semantic task of Chinese characters and FC in resting-state based on functional magnetic resonance imaging (fMRI) data of healthy left handers (LH) and right handers (RH). RSFC was calculated on a voxel-based level between the seed regions chosen from functional activations during the task and the rest of the brain...
October 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28883039/disease-associated-mutations-in-human-bicd2-hyperactivate-motility-of-dynein-dynactin
#5
Walter Huynh, Ronald D Vale
Bicaudal D2 (BICD2) joins dynein with dynactin into a ternary complex (termed DDB) capable of processive movement. Point mutations in the BICD2 gene have been identified in patients with a dominant form of spinal muscular atrophy, but how these mutations cause disease is unknown. To investigate this question, we have developed in vitro motility assays with purified DDB and BICD2's membrane vesicle partner, the GTPase Rab6a. Rab6a-GTP, either in solution or bound to artificial liposomes, released BICD2 from an autoinhibited state and promoted robust dynein-dynactin transport...
October 2, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28807459/rapidly-progressive-atherosclerosis-after-domino-liver-transplantation-from-a-teenage-donor-with-homozygous-familial-hypercholesterolemia
#6
Jessica R Golbus, Linda Farhat, Robert J Fontana, Melvyn Rubenfire
Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by impaired clearance of low-density lipoprotein cholesterol. Given limitations in pharmacologic therapy and the significant morbidity and mortality associated with this disease, liver transplantation may be offered to select homozygous FH patients in childhood in an effort to slow progression of atherosclerotic cardiovascular disease. In rare cases, domino liver transplantation can be performed, transplanting the livers of patients with various metabolic disorders into elderly recipients whose projected survival precludes prolonged waiting on the transplant list...
September 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28792153/clinical-characteristics-of-spinal-muscular-atrophy-in-korea-confirmed-by-genetic-analysis
#7
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/28723302/why-use-group-visits-for-opioid-use-disorder-treatment-in-primary-care-a-patient-centered-qualitative-study
#8
Randi Sokol, Chiara Albanese, Deviney Chaponis, Jessica Early, George Maxted, Diana Morrill, Grace Poirier, Fran Puopolo, Zev Schuman-Olivier
BACKGROUND: Primary care providers are well positioned to respond to the opioid crisis by providing buprenorphine/naloxone (B/N) through shared medical appointments (SMA). While quantitative research has been previously conducted on SMAs with B/N, we conducted a qualitative assessment from the patients' point of view, considering whether and how group visits provide value for patients. METHODS: Twenty-five participants with opioid use disorder (OUD) who were enrolled in a weekly B/N group visit at a family medicine clinic participated in either of two one-hour-long focus groups, which were conducted as actual group visits...
July 19, 2017: Substance Abuse
https://www.readbyqxmd.com/read/28635954/phenotypic-extremes-of-bicd2-opathies-from-lethal-congenital-muscular-atrophy-with-arthrogryposis-to-asymptomatic-with-subclinical-features
#9
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
https://www.readbyqxmd.com/read/28611571/exosomes-and-homeostatic-synaptic-plasticity-are-linked-to-each-other-and-to-huntington-s-parkinson-s-and-other-neurodegenerative-diseases-by-database-enabled-analyses-of-comprehensively-curated-datasets
#10
James K T Wang, Peter Langfelder, Steve Horvath, Michael J Palazzolo
Huntington's disease (HD) is a progressive and autosomal dominant neurodegeneration caused by CAG expansion in the huntingtin gene (HTT), but the pathophysiological mechanism of mutant HTT (mHTT) remains unclear. To study HD using systems biological methodologies on all published data, we undertook the first comprehensive curation of two key PubMed HD datasets: perturbation genes that impact mHTT-driven endpoints and therefore are putatively linked causally to pathogenic mechanisms, and the protein interactome of HTT that reflects its biology...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28607608/clinical-features-pathological-findings-and-treatment-of-recurrent-dermatofibrosarcoma-protuberans
#11
Yanan Li, Chuan Wang, Bo Xiang, Siyuan Chen, Li Li, Yi Ji
Dermatofibrosarcoma protuberans (DESP) is a relatively rare and low-grade tumor of the skin and soft tissue. We review the clinical features, pathological findings and management of recurrent DESP with the aim to improve our understanding of this rare tumor. Fifty-seven patients were diagnosed with recurrent DFSP. The mean age at the presentation of DFSP was 30.9 years. The mean age at diagnosis of DFSP was 40.2 years. Chest wall was the dominant location. The histopathological diagnosis was ordinary DFSP (O-DFSP) in 46 cases and fibrosarcomatous DFSP (FS-DFSP) in 11 cases...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/28606400/autosomal-dominant-distal-myopathy-due-to-a-novel-acta1-mutation
#12
Teerin Liewluck, Eric J Sorenson, Magdalena A Walkiewicz, Kandelaria M Rumilla, Margherita Milone
Mutations in skeletal muscle α-actin 1-encoding gene (ACTA1) cause autosomal dominant or recessive myopathies with marked clinical and pathological heterogeneity. Patients typically develop generalized or limb-girdle pattern of weakness, but recently a family with scapuloperoneal myopathy was reported. We describe a father and 2 children with childhood-to-juvenile onset distal myopathy, carrying a novel dominant ACTA1 variant, c.757G>C (p.Gly253Arg). Father had delayed motor development and developed significant proximal weakness later in life; he was initially misdiagnosed as having spinal muscular atrophy based on electromyographic findings...
May 5, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28594869/compound-heterozygous-mutations-in-glycyl-trna-synthetase-gars-cause-mitochondrial-respiratory-chain-dysfunction
#13
Michael Nafisinia, Lisa G Riley, Wendy A Gold, Kaustuv Bhattacharya, Carolyn R Broderick, David R Thorburn, Cas Simons, John Christodoulou
Glycyl-tRNA synthetase (GARS; OMIM 600287) is one of thirty-seven tRNA-synthetase genes that catalyses the synthesis of glycyl-tRNA, which is required to insert glycine into proteins within the cytosol and mitochondria. To date, eighteen mutations in GARS have been reported in patients with autosomal-dominant Charcot-Marie-Tooth disease type 2D (CMT2D; OMIM 601472), and/or distal spinal muscular atrophy type V (dSMA-V; OMIM 600794). In this study, we report a patient with clinical and biochemical features suggestive of a mitochondrial respiratory chain (MRC) disorder including mild left ventricular posterior wall hypertrophy, exercise intolerance, and lactic acidosis...
2017: PloS One
https://www.readbyqxmd.com/read/28554554/expanding-the-phenotypic-spectrum-associated-with-mutations-of-dync1h1
#14
Sarah J Beecroft, Catriona A McLean, Martin B Delatycki, Kurian Koshy, Eppie Yiu, Goknur Haliloglu, Diclehan Orhan, Phillipa J Lamont, Mark R Davis, Nigel G Laing, Gianina Ravenscroft
Autosomal dominant mutations of DYNC1H1 cause a range of neurogenetic diseases, including mental retardation with cortical malformations, hereditary spastic paraplegia and spinal muscular atrophy. Using SNP array, linkage analysis and next generation sequencing, we identified two families and one isolated proband sharing a known spinal muscular atrophy, lower extremity predominant (SMALED) causing mutation DYNC1H1 c.1792C>T, p.Arg598Cys, and another family harbouring a c.2327C>T, p.Pro776Leu mutation...
July 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28553860/frontal-aslant-tract-projections-to-the-inferior-frontal-gyrus
#15
Tomasz Szmuda, Marianna Rogowska, Paweł Słoniewski, Ahmed Abuhaimed, Marta Szmuda, Janusz Springer, Agnieszka Sabisz, Jarosław Dzierżanowski, Anna Starzyńska, Tomasz Przewoźny, Andrzej Skorek
Frontal aslant tract (FAT) is a white matter bundle connecting the pre-supplementary motor area (pre-SMA) and the supplementary motor area (SMA) with the inferior frontal gyrus (IFG). The purpose of the present study was to evaluate the anatomical variability of FAT. Total number of fibers and the lateralisation index (LI) were calculated. We attempted to find factors contributing to the diversity of FAT regarding IFG terminations to the pars opercularis (IFG-Op) and to the pars triangularis (IFG-Tr). Magnetic resonance imaging (MRI) of adult patients with diffusion tensor imaging (DTI) with total number of 98 hemispheres composed a cohort...
May 29, 2017: Folia Morphologica (Warsz)
https://www.readbyqxmd.com/read/28551318/anatomical-and-functional-correlates-of-cortical-motor-threshold-of-the-dominant-hand
#16
Charlotte Rosso, Vincent Perlbarg, Romain Valabregue, Mickaël Obadia, Claire Kemlin-Méchin, Eric Moulton, Sara Leder, Sabine Meunier, Jean-Charles Lamy
BACKGROUND: Resting Motor threshold (rMT) provides information about cortical motor excitability. Interestingly, the influences of the structural or functional variability of the motor system on the rMT inter-individual variability have been poorly investigated. OBJECTIVE/HYPOTHESIS: To investigate relationships between rMT and measures of brain structures and function of the motor system. The hypothesis is that cortical excitability not only depends on the primary motor cortex (M1) but also on the integration of information originating from its vicinity such as premotor (PMd and SMA) and post-central (S1) cortices...
May 17, 2017: Brain Stimulation
https://www.readbyqxmd.com/read/28545163/coccygeal-body-revisited-an-immunohistochemical-study-using-donated-elderly-cadavers
#17
Zhe Wu Jin, Kwang Ho Cho, Hyung Suk Jang, Gen Murakami, Jose Francisco Rodríguez-Vázquez, Masahito Yamamoto, Shin-Ichi Abe
To describe the normal anatomy and histology of the adult coccygeal body (CB) and to discuss about the origin and function. Using immunohistochemistry, we examined 29 CBs found in 32 elderly donated cadavers without macroscopic pathology in the pelvis. The CB was usually located in or near the anococcygeal ligaments. It was almost always composed of multiple masses or nodules of round glomus cells (smooth muscle actin, or SMA++). However, the CB sometimes contained abundant dilated veins with scattered glomus cells...
May 25, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28542189/mir-277-4989-regulate-transcriptional-landscape-during-juvenile-to-adult-transition-in-the-parasitic-helminth-schistosoma-mansoni
#18
Anna V Protasio, Stijn van Dongen, Julie Collins, Leonor Quintais, Diogo M Ribeiro, Florian Sessler, Martin Hunt, Gabriel Rinaldi, James J Collins, Anton J Enright, Matthew Berriman
Schistosomes are parasitic helminths that cause schistosomiasis, a disease affecting circa 200 million people, primarily in underprivileged regions of the world. Schistosoma mansoni is the most experimentally tractable schistosome species due to its ease of propagation in the laboratory and the high quality of its genome assembly and annotation. Although there is growing interest in microRNAs (miRNAs) in trematodes, little is known about the role these molecules play in the context of developmental processes...
May 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28532900/combinatorial-screening-of-3d-biomaterial-properties-that-promote-myofibrogenesis-for-mesenchymal-stromal-cell-based-heart-valve-tissue-engineering
#19
Jenna Usprech, David A Romero, Cristina H Amon, Craig A Simmons
The physical and chemical properties of a biomaterial integrate with soluble cues in the cell microenvironment to direct cell fate and function. Predictable biomaterial-based control of integrated cell responses has been investigated with two-dimensional (2D) screening platforms, but integrated responses in 3D have largely not been explored systematically. To address this need, we developed a screening platform using polyethylene glycol norbornene (PEG-NB) as a model biomaterial with which the polymer wt% (to control elastic modulus) and adhesion peptide types (RGD, DGEA, YIGSR) and densities could be controlled independently and combinatorially in arrays of 3D hydrogels...
May 19, 2017: Acta Biomaterialia
https://www.readbyqxmd.com/read/28529481/topical-ophthalmic-formulation-of-trichostatin-a-and-surr9-c84a-for-quick-recovery-post-alkali-burn-of-corneal-haze
#20
Kislay Roy, Chun Hei Antonio Cheung, Rupinder K Kanwar, Rajat Sandhir, Jagat R Kanwar
Alkali burn injury is a true ocular emergency of the conjunctiva and cornea that requires immediate precision. Lack of an immediate therapy can lead to a substantial damage in the ocular surface and anterior segment further causing visual impairment and disfigurement. We explored the regenerative capability of dominant negative survivin protein (SurR9-C84A) and histone deacetylase inhibitor trichostatin-A (TSA) in vivo, in a rat alkali burn model. A topical insult in rat eyes with NaOH led to degradation of the conjunctival and corneal epithelium...
2017: Frontiers in Pharmacology
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