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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/28804634/muscle-mri-findings-in-a-one-year-old-girl-with-merosin-deficient-congenital-muscular-dystrophy-type-1a-due-to-lama2-mutation-a-case-report
#2
Yingyin Liang, Guidian Li, Songlin Chen, Rongxing He, Xiangxue Zhou, Yingming Chen, Xue Xu, Ronglan Zhu, Cheng Zhang
The objective of the present study was to characterize the muscle magnetic resonance imaging (MRI) features of a 1-year-old girl with merosin-deficient congenital muscular dystrophy type 1A (MDC1A). Beginning as an infant, this patient exhibited severe hypotonia and proximal weakness, as well as delays in developmental milestones. Her serum creatine kinase levels at 3 months, 8 months and 1 year were 2,959, 1,621 and 1,659 U/l, respectively. Brain MRI indicated symmetric, mild T1WI low, mild T2WI and FLAIR high radial patterns in the white matter of the Cornu posterius of the ventricular lateral...
August 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28803818/a-homozygous-dpm3-mutation-in-a-patient-with-alpha-dystroglycan-related-limb-girdle-muscular-dystrophy
#3
P Y K Van den Bergh, Y Sznajer, V Van Parys, W van Tol, R A Wevers, D J Lefeber, L Xu, M Lek, D G MacArthur, K Johnson, L Phillips, A Töpf, V Straub
Defects of O-linked glycosylation of alpha-dystroglycan cause a wide spectrum of muscular dystrophies ranging from severe congenital muscular dystrophy associated with abnormal brain and eye development to mild limb girdle muscular dystrophy. We report a female patient who developed isolated pelvic girdle muscle weakness and wasting, which became symptomatic at age 42. Exome sequencing uncovered a homozygous c.131T > G (p.Leu44Pro) substitution in DPM3, encoding dolichol-P-mannose (DPM) synthase subunit 3, leading to a 50% reduction of enzymatic activity...
July 17, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28803798/radiosynthesis-and-preclinical-pet-evaluation-of-89-zr-nivolumab-bms-936558-in-healthy-non-human-primates
#4
Erin L Cole, Joonyoung Kim, David J Donnelly, R Adam Smith, Daniel Cohen, Virginie Lafont, Paul E Morin, Richard Y-C Huang, Patrick L Chow, Wendy Hayes, Samuel Bonacorsi
Cancer immunotherapy, unlike traditional cytotoxic chemotherapeutic treatments, engages the immune system to identify cancer cells and stimulate immune responses. The Programmed Death-1 (PD-1) protein is an immunoinhibitory receptor expressed by activated cytotoxic T-lymphocytes (CTL) that seek out and destroy cancer cells. Multiple cancer types express and upregulate the Programmed Death-Ligand 1 (PD-L1) and 2 (PD-L2) which bind to PD-1 as an immune escape mechanism. Nivolumab is a fully human IgG4 anti-PD-1 monoclonal antibody (mAb) approved for treatment of multiple cancer types...
August 4, 2017: Bioorganic & Medicinal Chemistry
https://www.readbyqxmd.com/read/28803760/mechanism-of-action-of-botulinum-neurotoxin-unexpected-consequences
#5
REVIEW
Mark Hallett
Botulinum neurotoxin (BoNT) is a widely used therapeutic in part because its mechanism of action is much wider than initially expected. Since BoNT is taken up more avidly in active presynaptic terminals, there is some selectivity for weakening muscles involved in frequent involuntary movements. BoNT blocks gamma motoneurons as well as alpha motoneurons, hence reducing afferent spindle activity which appears to have a favorable effect. Some BoNT is retrogradely transported in the motor axons, leading at least to reduction in recurrent inhibition mediated by the Renshaw cell...
August 10, 2017: Toxicon: Official Journal of the International Society on Toxinology
https://www.readbyqxmd.com/read/28803538/pharmacokinetics-of-tafamidis-a-transthyretin-amyloidosis-drug-in-rats
#6
Kyeong-Ryoon Lee, Jong-Woo Jeong, Hun-Chan Hyun, Jang Eunseo, Sunjoo Ahn Ahn, Sungwook Choi, Sang Hoon Joo, Sung-Sub Kim, Tae-Sung Koo
1. We characterized the pharmacokinetics of tafamidis, a novel drug to treat transthyretin-related amyloidosis, in rats after intravenous and oral administration at doses of 0.3-3 mg/kg. In vitro Caco-2 cell permeability and liver microsomal stability, as well as in vivo tissue distribution and plasma protein binding were also examined. 2. After intravenous injection, systemic clearance (CL), volumes of distribution at steady state (Vss), and half-life (T½) remained unaltered as a function of dose, with values in the ranges of 6...
August 14, 2017: Xenobiotica; the Fate of Foreign Compounds in Biological Systems
https://www.readbyqxmd.com/read/28803536/bovine-viral-diarrhea-virus-1b-fetal-infection-with-extensive-hemorrhage
#7
Robert W Fulton, Anthony W Confer, Nicholas J Sorensen, Julia F Ridpath, Lurinda J Burge
Bovine viral diarrhea virus (BVDV) 1b was isolated from tissues of a term bovine fetus with petechial hemorrhages noted throughout the body and placenta at autopsy. Fresh lung, kidney, thymus, and liver tissues were examined by direct fluorescent antibody testing and were positive for BVDV antigen and negative for bovine herpesvirus 1 antigen. An organ pool of fresh tissues was positive for noncytopathic (NCP) BVDV-1 by virus isolation. BVDV-1b was identified by sequencing of the 5'-UTR region of the genome...
August 1, 2017: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/28802071/microrna-137-and-195-inhibit-vasculogenesis-in-brain-arteriovenous-malformations
#8
Jun Huang, Jianping Song, Meijie Qu, Yang Wang, Qinzhu An, Yaying Song, Wei Yan, Bingshun Wang, Xiaojin Wang, Song Zhang, Xi Chen, Bing Zhao, Peixi Liu, Tongyi Xu, Zhijun Zhang, David A Greenberg, Yongting Wang, Pingjin Gao, Wei Zhu, Guo-Yuan Yang
OBJECTIVES: Brain arteriovenous malformations (AVMs) are the most common cause of non-traumatic intracerebral hemorrhage in young adults. The genesis of brain AVM remains enigmatic. We investigated microRNA (miRNA) expression and its contribution to the pathogenesis of brain AVMs. METHODS: We used a large-scale miRNA analysis on 16 samples including AVMs, hemangioblastoma, and controls to identify a distinct AVM miRNA signature. AVM smooth muscle cells (AVMSMCs) were isolated and identified by flow cytometry and immunohistochemistry and candidate miRNAs were then tested in these cells...
August 12, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28801769/illusory-limb-movements-activate-different-brain-networks-than-imposed-limb-movements-an-ale-meta-analysis
#9
Jeffrey M Kenzie, Ettie Ben-Shabat, Gemma Lamp, Sean P Dukelow, Leeanne M Carey
Proprioceptive information allows us to perform smooth coordinated movements by constantly updating us with knowledge of the position of our limbs in space. How this information is combined and processed to form conscious perceptions of limb position is still relatively unknown. Several functional neuroimaging studies have attempted to tease out the brain areas responsible for proprioceptive processing in the human brain. Yet there still exists some disagreement in the specific brain regions involved. In order to consolidate the current knowledge in the field, we performed a systematic review of the literature and an activation likelihood estimation (ALE) meta-analysis of functional neuroimaging studies of proprioception...
August 11, 2017: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/28801086/slowly-progressive-leukodystrophy-in-an-adolescent-male-with-phosphoglycerate-kinase-deficiency
#10
Shimpei Baba, Ayumi Kobayashi, Haruna Yokoyama, Kengo Moriyama, Ayako Kashimada, Jun Oyama, Ayako Owada, Shoichi Oyama, Tomohiro Morio, Masatoshi Takagi
We report the case of an 18-year-old man with a phosphoglycerate kinase (PGK) deficiency who had slowly progressive leukodystrophy during adolescence. The patient had a history of severe neonatal jaundice, hemolytic crisis with rhabdomyolysis triggered by febrile viral infections, dysarthria, and intellectual disability during early childhood. Clumsiness in walking and writing became obvious at ∼10years of age. Evaluations performed by us on the 18-year-old patient confirmed the presence of pyramidal tract signs, increased muscle tone, and generalized dystonia...
August 8, 2017: Brain & Development
https://www.readbyqxmd.com/read/28795001/evaluation-and-management-of-sport-related-concussions-in-adolescent-athletes
#11
REVIEW
Dilip R Patel, Venu Parachuri, Amrith Shettigar
Sport-related concussions in young athletes are common, generally under reported and often go unrecognized. Concussion in sport may result either from a direct impact to the head or from indirect forces transmitted to the brain from impact elsewhere on the body. Concussions may also result from sudden acceleration, deceleration or rotational forces to the brain. The key features of concussion include confusion, impaired memory and reduced speed of information processing. Recovery may occur from a few days to several weeks or months...
July 2017: Translational pediatrics
https://www.readbyqxmd.com/read/28782903/non-invasive-brain-stimulation-for-dystonia-therapeutic-implications
#12
REVIEW
R Erro, M Tinazzi, F Morgante, K P Bhatia
Dystonia is characterized by excessive muscle contractions giving rise to abnormal posture and involuntary twisting movements. Although dystonia syndromes are a heterogeneous group of disorders, certain pathophysiological mechanisms have been consistently identified across different forms. These pathophysiological mechanisms have subsequently been exploited for the development of non-invasive brain stimulation (NIBS) techniques able to modulate neural activity in one or more nodes of the putative network that is altered in dystonia, and the therapeutic role of NIBS has hence been suggested...
August 7, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28782695/analgesics-and-sport-performance-beyond-the-pain-modulating-effects
#13
REVIEW
Darias Holgado, James Hopker, Daniel Sanabria, Mikel Zabala
Analgesics are widely used in sport to treat pain and inflammation associated with injury. However, there is growing evidence that some athletes might be taking these substances in an attempt to enhance performance. While the pharmacological action of analgesics and their use in treating pain with and without anti-inflammatory effect is well established, their effect on sport performance is debated. The aim of this review was to evaluate the evidence of whether analgesics are capable of enhancing exercise performance, and if so, to what extent...
August 3, 2017: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/28782683/unidirectional-brain-to-muscle-connectivity-reveals-motor-cortex-control-of-leg-muscles-during-stereotyped-walking
#14
Fiorenzo Artoni, Chiara Fanciullacci, Federica Bertolucci, Alessandro Panarese, Scott Makeig, Silvestro Micera, Carmelo Chisari
In lower mammals, locomotion seems to be mainly regulated by subcortical and spinal networks. On the contrary, recent evidence suggests that in humans the motor cortex is also significantly engaged during complex locomotion tasks. However, a detailed understanding of cortical contribution to locomotion is still lacking especially during stereotyped activities. Here, we show that cortical motor areas finely control leg muscle activation during treadmill stereotyped walking. Using a novel technique based on a combination of Reliable Independent Component Analysis, source localization and effective connectivity, and by combining electroencephalographic (EEG) and electromyographic (EMG) recordings in able-bodied adults we were able to examine for the first time cortical activation patterns and cortico-muscular connectivity including information flow direction...
August 4, 2017: NeuroImage
https://www.readbyqxmd.com/read/28782471/tgf-%C3%AE-1-causes-emt-by-regulating-n-acetyl-glucosaminyl-transferases-via-downregulation-of-non-muscle-myosin-ii-a-through-jnk-p38-pi3k-pathway-in-lung-cancer
#15
Ghulam Jilany Khan, Yingsheng Gao, Ming Gu, Lai Wang, Sara Khan, Farah Naeem, Bashir Alsiddig Yousef, Debmalya Roy, Herve Semukunzi, Shengtao Yuan, Li Sun
BACKGROUND: Epithelial to mesenchymal transition (EMT) is a major determinant of cancer metastasis and is closely linked with TGF-β1. Intracellular proteins, including E. Cadherin, N. Cadherin and Vimentin are directly related to EMT that affect cell migration and adhesion; on the other hand, non muscle myosin (NM) has a central role in cytokinesis, migration and adhesion. OBJECTIVE: We aimed to explore the association of EMT and metastasis with TGF-β1 through regulation of non-muscle myosin II-A (NMII-A) and its interaction with Hexosamine Biosynthesis Pathway (HBP)...
August 7, 2017: Current Cancer Drug Targets
https://www.readbyqxmd.com/read/28782181/public-regulatory-databases-as-a-source-of-insight-for-neuromodulation-devices-stimulation-parameters
#16
REVIEW
Doe Kumsa, G Karl Steinke, Gregory F Molnar, Eric M Hudak, Fred W Montague, Shawn C Kelley, Darrel F Untereker, Alan Shi, Benjamin P Hahn, Chris Condit, Hyowon Lee, Dawn Bardot, Jose A Centeno, Victor Krauthamer, Pavel A Takmakov
OBJECTIVE: The Shannon model is often used to define an expected boundary between non-damaging and damaging modes of electrical neurostimulation. Numerous preclinical studies have been performed by manufacturers of neuromodulation devices using different animal models and a broad range of stimulation parameters while developing devices for clinical use. These studies are mostly absent from peer-reviewed literature, which may lead to this information being overlooked by the scientific community...
August 7, 2017: Neuromodulation: Journal of the International Neuromodulation Society
https://www.readbyqxmd.com/read/28780372/species-specific-effects-of-neuregulin-1%C3%AE-cimaglermin-alfa-on-glucose-handling-in-animal-models-and-humans-with-heart-failure
#17
Zhihong Huang, Douglas B Sawyer, Erika L Troy, Corissa McEwen, John H Cleator, Abigail Murphy, Anthony O Caggiano, Andrew Eisen, Tom J Parry
Neuregulin-1β is a member of the neuregulin family of growth factors and is critically important for normal development and functioning of the heart and brain. A recombinant version of neuregulin-1β, cimaglermin alfa (also known as glial growth factor 2 or GGF2) is being investigated as a possible therapy for heart failure. Previous studies suggest that neuregulin-1β stimulation of skeletal muscle increases glucose uptake and, specifically, sufficient doses of cimaglermin alfa acutely produce hypoglycemia in pigs...
August 2, 2017: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/28776278/expression-of-thyroid-stimulating-hormone-receptors-and-thyroglobulin-in-limbic-regions-in-the-adult-human-brain
#18
Meleshni Naicker, Strinivasen Naidoo
Expression of the human thyroid-specific proteins, thyroid-stimulating hormone receptor (TSH-R) and thyroglobulin (TG) in non-thyroid tissue is well-documented. TSH-R has been identified in the heart, kidney, bone, pituitary, adipose tissue, skin and astrocyte cultures. TG has been identified in the skin, thymus and kidney. However, none of those previous studies had identified TSH-R or TG in specific human brain regions. Previously, a pilot study conducted by our group on normal adult human brain demonstrated TSH-R and TG in cortical neurons and cerebral vasculature, respectively, within various brain areas...
August 3, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28775065/effect-of-hypoxia-and-hyperoxia-on-exercise-performance-in-healthy-individuals-and-in-patients-with-pulmonary-hypertension-a-systematic-review
#19
Silvia Ulrich, Simon Raphael Schneider, Konrad E Bloch
Exercise performance is determined by oxygen supply to working muscles and vital organs. In healthy individuals, exercise performance is limited in the hypoxic environment at altitude, when oxygen delivery is diminished due to the reduced alveolar and arterial oxygen partial pressures. In patients with pulmonary hypertension, exercise performance is already reduced near sea level due to impairments of the pulmonary circulation and gas exchange and, presumably, these limitations are more pronounced at altitude...
August 3, 2017: Journal of Applied Physiology
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
#20
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
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