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https://www.readbyqxmd.com/read/27913098/succinyl-coa-synthetase-sucla2-deficiency-in-two-siblings-with-impaired-activity-of-other-mitochondrial-oxidative-enzymes-in-skeletal-muscle-without-mitochondrial-dna-depletion
#1
Xiaoping Huang, Jirair K Bedoyan, Didem Demirbas, David J Harris, Alexander Miron, Simone Edelheit, George Grahame, Suzanne D DeBrosse, Lee-Jun Wong, Charles L Hoppel, Douglas S Kerr, Irina Anselm, Gerard T Berry
Mutations in SUCLA2 result in succinyl-CoA ligase (ATP-forming) or succinyl-CoA synthetase (ADP-forming) (A-SCS) deficiency, a mitochondrial tricarboxylic acid cycle disorder. The phenotype associated with this gene defect is largely encephalomyopathy. We describe two siblings compound heterozygous for SUCLA2 mutations, c.985A>G (p.M329V) and c.920C>T (p.A307V), with parents confirmed as carriers of each mutation. We developed a new LC-MS/MS based enzyme assay to demonstrate the decreased SCS activity in the siblings with this unique genotype...
November 12, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27912863/circadian-rhythm-and-sleep-during-prolonged-antarctic-residence-at-chinese-zhongshan-station
#2
Nan Chen, Quan Wu, Yanlei Xiong, Guang Chen, Dandan Song, Chengli Xu
OBJECTIVE: Residence at Zhongshan Station (69°22'24″S, 76°22'40″E) for over 1 year exposes winter-over members to marked changes of light-dark cycle, ranging from the constant daylight of polar days to the constant darkness of polar nights, in addition to geographic and social isolation. This extreme photoperiodic environment may increase the risk of sleep disturbances and circadian desynchrony. The aim of this study was to investigate the circadian rhythm and sleep phase of Chinese winter-over expeditioners at Zhongshan Station...
December 2016: Wilderness & Environmental Medicine
https://www.readbyqxmd.com/read/27911767/phosphatidylinositol-3-kinase-inhibition-restores-ca2-release-defects-and-prolongs-survival-in-myotubularin-deficient-mice
#3
Candice Kutchukian, Mirella Lo Scrudato, Yves Tourneur, Karine Poulard, Alban Vignaud, Christine Berthier, Bruno Allard, Michael W Lawlor, Ana Buj-Bello, Vincent Jacquemond
Mutations in the gene encoding the phosphoinositide 3-phosphatase myotubularin (MTM1) are responsible for a pediatric disease of skeletal muscle named myotubular myopathy (XLMTM). Muscle fibers from MTM1-deficient mice present defects in excitation-contraction (EC) coupling likely responsible for the disease-associated fatal muscle weakness. However, the mechanism leading to EC coupling failure remains unclear. During normal skeletal muscle EC coupling, transverse (t) tubule depolarization triggers sarcoplasmic reticulum (SR) Ca(2+) release through ryanodine receptor channels gated by conformational coupling with the t-tubule voltage-sensing dihydropyridine receptors...
November 28, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27907109/loss-of-h3k9me3-correlates-with-atm-activation-and-histone-h2ax-phosphorylation-deficiencies-in-hutchinson-gilford-progeria-syndrome
#4
Haoyue Zhang, Linlin Sun, Kun Wang, Di Wu, Mason Trappio, Celeste Witting, Kan Cao
Compelling evidence suggests that defective DNA damage response (DDR) plays a key role in the premature aging phenotypes in Hutchinson-Gilford progeria syndrome (HGPS). Studies document widespread alterations in histone modifications in HGPS cells, especially, the global loss of histone H3 trimethylated on lysine 9 (H3K9me3). In this study, we explore the potential connection(s) between H3K9me3 loss and the impaired DDR in HGPS. When cells are exposed to a DNA-damaging agent Doxorubicin (Dox), double strand breaks (DSBs) are generated that result in the phosphorylation of histone H2A variant H2AX (gammaH2AX) within an hour...
2016: PloS One
https://www.readbyqxmd.com/read/27906765/hemodynamic-disturbances-in-the-early-phase-after-subarachnoid-hemorrhage-regional-cerebral-blood-flow-studied-by-bedside-xenon-enhanced-ct
#5
Henrik Engquist, Anders Lewén, Tim Howells, Ulf Johnson, Elisabeth Ronne-Engström, Pelle Nilsson, Per Enblad, Elham Rostami
BACKGROUND: The mechanisms leading to neurological deterioration and the devastating course of delayed cerebral ischemia (DCI) after subarachnoid hemorrhage (SAH) are still not well understood. Bedside xenon-enhanced computerized tomography (XeCT) enables measurements of regional cerebral blood flow (rCBF) during neurosurgical intensive care. In the present study, CBF characteristics in the early phase after severe SAH were explored and related to clinical characteristics and early clinical course outcome...
November 30, 2016: Journal of Neurosurgical Anesthesiology
https://www.readbyqxmd.com/read/27905957/factors-associated-with-no-shows-and-rescheduling-mri-appointments
#6
Majeed O AlRowaili, Anwar E Ahmed, Hasan A Areabi
BACKGROUND: One of the major challenges facing global radiology services comes from delays connected to long waiting lists for magnetic resonance imaging (MRI) procedures. Such delays in diagnostic procedures could lead to poorer patient care outcomes. This study intended to estimate the rate of "No-Shows" or "Reschedule" MRI appointments. We also investigated the factors correlating No-Shows and Reschedule MRI appointments. METHODS: A cross-sectional study was conducted in Saudi Arabia using data obtained via MRI schedule reviews and self-administrated questionnaires...
December 1, 2016: BMC Health Services Research
https://www.readbyqxmd.com/read/27905493/increased-temperature-delays-the-late-season-phenology-of-multivoltine-insect
#7
Adam Glazaczow, David Orwin, Michał Bogdziewicz
We analyzed the impact of increased water temperature on the late-season phenology of the mayfly (Baetis liebenauae). The River Gwda, unlike two other examined rivers (controls), has reservoirs along its length and thus, higher water temperature. Elevated water temperature prolonged summer diapause of the mayfly and shifted its life cycle to the later autumn: the last generation of mayflies started development later in the Gwda than in the control rivers. This translated into terrestrial stages (subimagos) of the insect being more abundant at the water surface in the late autumn in the Gwda river than in the control rivers...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27903293/personalized-medicine-approach-confirms-a-milder-case-of-abat-deficiency
#8
A Besse, A K Petersen, J V Hunter, V Appadurai, S R Lalani, P E Bonnen
ABAT deficiency (OMIM 613163) is a rare inborn error of metabolism caused by recessive variants in the gene 4-aminobutyric acid transaminase (ABAT), which is responsible for both the catalysis of GABA and maintenance of nucleoside pools in the mitochondria. To date, only a few patients have been reported worldwide. Their clinical presentation has been remarkably consistent with primary features of severe psychomotor retardation, encephalopathy, hypotonia, and infantile-onset refractory epilepsy. We report a new case of ABAT deficiency that marks an important departure from previous clinical findings...
December 1, 2016: Molecular Brain
https://www.readbyqxmd.com/read/27900502/values-and-preferences-on-the-use-of-oral-pre-exposure-prophylaxis-prep-for-hiv-prevention-among-multiple-populations-a-systematic-review-of-the-literature
#9
Florence M Koechlin, Virginia A Fonner, Sarah L Dalglish, Kevin R O'Reilly, Rachel Baggaley, Robert M Grant, Michelle Rodolph, Ioannis Hodges-Mameletzis, Caitlin E Kennedy
Daily oral pre-exposure prophylaxis (PrEP) is the use of antiretroviral drugs by HIV-negative people to prevent HIV infection. WHO released new guidelines in 2015 recommending PrEP for all populations at substantial risk of HIV infection. To prepare these guidelines, we conducted a systematic review of values and preferences among populations that might benefit from PrEP, women, heterosexual men, young women and adolescent girls, female sex workers, serodiscordant couples, transgender people and people who inject drugs, and among healthcare providers who may prescribe PrEP...
November 29, 2016: AIDS and Behavior
https://www.readbyqxmd.com/read/27899284/defective-lymphatic-valve-development-and-chylothorax-in-mice-with-a-lymphatic-specific-deletion-of-connexin43
#10
Stephanie J Munger, Michael J Davis, Alexander M Simon
Lymphatic valves (LVs) are cusped luminal structures that permit the movement of lymph in only one direction and are therefore critical for proper lymphatic vessel function. Congenital valve aplasia or agenesis can, in some cases, be a direct cause of lymphatic disease. Knowledge about the molecular mechanisms operating during the development and maintenance of LVs may thus aid in the establishment of novel therapeutic approaches to treat lymphatic disorders. In this study, we examined the role of Connexin43 (Cx43), a gap junction protein expressed in lymphatic endothelial cells (LECs), during valve development...
November 26, 2016: Developmental Biology
https://www.readbyqxmd.com/read/27899115/characterizing-the-impact-of-sustained-sulfadoxine-pyrimethamine-use-upon-the-plasmodium-falciparum-population-in-malawi
#11
Matt Ravenhall, Ernest Diez Benavente, Mwapatsa Mipando, Anja T R Jensen, Colin J Sutherland, Cally Roper, Nuno Sepúlveda, Dominic P Kwiatkowski, Jacqui Montgomery, Kamija S Phiri, Anja Terlouw, Alister Craig, Susana Campino, Harold Ocholla, Taane G Clark
BACKGROUND: Malawi experienced prolonged use of sulfadoxine/pyrimethamine (SP) as the front-line anti-malarial drug, with early replacement of chloroquine and delayed introduction of artemisinin-based combination therapy. Extended use of SP, and its continued application in pregnancy is impacting the genomic variation of the Plasmodium falciparum population. METHODS: Whole genome sequence data of P. falciparum isolates covering 2 years of transmission within Malawi, alongside global datasets, were used...
November 29, 2016: Malaria Journal
https://www.readbyqxmd.com/read/27898441/epidemiology-of-myopia
#12
Pei-Chang Wu, Hsiu-Mei Huang, Hun-Ju Yu, Po-Chiung Fang, Chueh-Tan Chen
Myopia is not a simple refractive error, but an eyesight-threatening disease. There is a high prevalence of myopia, 80% to 90%, in young adults in East Asia; myopia has become the leading cause of blindness in this area. As the myopic population increases globally, the severity of its impact is predicted. Approximately one fifth of the myopic population has high myopia (≥-6 diopters), which results in irreversible vision loss such as retinal detachment, choroidal neovascularization, cataracts, glaucoma, and macular atrophy...
November 2016: Asia-Pacific Journal of Ophthalmology
https://www.readbyqxmd.com/read/27896594/global-cerebral-ischemia-due-to-circulatory-arrest-insights-into-cellular-pathophysiology-and-diagnostic-modalities
#13
REVIEW
Santosh K Sanganalmath, Purva Gopal, John R Parker, Richard K Downs, Joseph C Parker, Buddhadeb Dawn
Circulatory arrest (CA) remains a major unresolved public health problem in the United States; the annual incidence of which is ~0.50 to 0.55 per 1000 population. Despite seminal advances in therapeutic approaches over the past several decades, brain injury continues to be the leading cause of morbidity and mortality after CA. In brief, CA typically results in global cerebral ischemia leading to delayed neuronal death in the hippocampal pyramidal cells as well as in the cortical layers. The dynamic changes occurring in neurons after CA are still unclear, and predicting these neurological changes in the brain still remains a difficult issue...
November 28, 2016: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/27894887/ultrasound-tissue-pulsatility-imaging-suggests-impairment-in-global-brain-pulsatility-and-small-vessels-in-elderly-patients-with-orthostatic-hypotension
#14
Julie Biogeau, Thomas Desmidt, Paul-Armand Dujardin, Redouane Ternifi, Charlotte Eudo, Emilie Vierron, Jean-Pierre Remenieras, Frédéric Patat, Vincent Camus, Thierry Constans
BACKGROUND: Orthostatic hypotension (OH) is highly prevalent in the elderly, and this population can be exposed to serious complications, including falls and cognitive disorders, as well as overall mortality. However, the pathophysiology of OH is still poorly understood, and innovative methods of cerebral blood flow (CBF) assessment have been required to accurately investigate cerebrovascular reactivity in OH. OBJECTIVES: We want to compare brain tissue pulsatility (BTP) changes during an orthostatic challenge in elderly patients over 80 with and without OH...
November 25, 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/27894336/curcumin-and-long-chain-omega-3-polyunsaturated-fatty-acids-for-prevention-of-type-2-diabetes-cop-d-study-protocol-for-a-randomised-controlled-trial
#15
Rohith N Thota, Shamasunder H Acharya, Kylie A Abbott, Manohar L Garg
BACKGROUND: Lifestyle interventions, including increase in physical activity and dietary counselling, have shown the ability to prevent type 2 diabetes (T2D) in high-risk state individuals, but the prevalence is still skyrocketing in Australia, in line with global prevalence. Currently, no medicines are approved by the Therapeutic Goods Administration in Australia for the management of prediabetes. Therefore, there is a need of developing a safer, biologically efficacious and cost-effective alternative for delaying the transition of individual health state from prediabetes into T2D...
November 29, 2016: Trials
https://www.readbyqxmd.com/read/27891385/when-pulmonary-function-test-is-available-should-we-wait-for-the-copd-symptoms-to-develop
#16
REVIEW
Varshil Mehta, Nimit Desai, Smit Patel
Adolescent smokers are more likely to be addicted to nicotine and develop a chronic habit. Chronic smoking has a direct impact on quality of life and life expectancy. Repeated environmental exposure and smoke inhalation can be deleterious to health. In order to evaluate the core functioning of the lungs, Pulmonary Function Tests (PFTs) are conducted. This panel of tests should be advised for all patients complaining of shortness of breath. Since clinical features resulting from chronic smoking tend to appear late in the course of the disease, PFTs are immensely useful for early identification of abnormalities in asymptomatic adult smokers...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27890788/genetic-testing-among-spanish-pediatric-neurologists-knowledge-attitudes-and-practices
#17
J Domínguez-Carral, F J López-Pisón, A Macaya, M Bueno Campaña, M A García-Pérez, D Natera-de Benito
Advances in genetic testing applied to child neurology have enabled the development of genetic tests with greater sensitivity in elucidating an etiologic diagnosis for common neurological conditions. The objective of the current study was to examine child neurologists' perspectives and insights into genetic testing. We surveyed 118 Spanish child neurologists, exploring their knowledge, attitudes, and practices concerning genetic tests. All of them had requested at least one genetic test in the past six months...
November 24, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27889396/functional-recovery-of-regional-myocardial-deformation-in-patients-with-takotsubo-cardiomyopathy
#18
Sung-Ai Kim, Sang-Ho Jo, Kyoung-Ha Park, Hyun-Sook Kim, Sang-Jin Han, Woo-Jung Park
BACKGROUND: Takotsubo cardiomyopathy (TC) is acute, but completely reversible in the absence of significant coronary artery disease. This study aims to assess the functional recovery of regional myocardial deformation in patients with TC using 2-dimensional (2D) speckle tracking echocardiography. METHODS: Thirty-three patients diagnosed with TC (mean age 63 years, 26 female) prospectively underwent serial 2D echocardiography on day 1 (initial presentation), day 4 [the middle, interquartile range (IQR), 2-5 days], and day 21 (recovery, IQR 13-32 days)...
November 23, 2016: Journal of Cardiology
https://www.readbyqxmd.com/read/27888271/investigation-of-the-association-between-motor-stereotypy-behavior-with-fundamental-movement-skills-adaptive-functioning-and-autistic-spectrum-disorder-symptomology-in-children-with-intellectual-disabilities
#19
Joanne L Powell, Lydia Pringle, Matt Greig
Motor stereotypy behaviors are patterned, coordinated, repetitive behaviors that are particularly evident in those with an autistic spectrum disorder and intellectual disabilities. The extent to which motor stereotypy behavior severity is associated with motor skills and maladaptive behavior, measures of adaptive functioning, along with fundamental movement skills and degree of autistic spectrum disorder symptomology is assessed in this preliminary report. Twelve participants, aged 7 to 16 years, with a reported motor stereotypy behavior and either mild or severe intellectual disability comprising developmental or global delay took part in the study...
November 25, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27885973/leprosy-trends-at-a-tertiary-care-hospital-in-mumbai-india-from-2008-to-2015
#20
Thirumugam Muthuvel, Petros Isaakidis, Hemant Deepak Shewade, Lucy Kattuppara, Rajbir Singh, Srinivas Govindarajulu
BACKGROUND: Leprosy remains an important cause of preventable disabilities. After the advent of multidrug therapy, new leprosy cases have come down dramatically. Despite this achievement, India, which contributes 60% of the global leprosy burden, faces some challenges to eliminate the disease, including active transmission in the community and delayed diagnosis of leprosy patients. OBJECTIVES: The objectives of the study were 1) to determine sociodemographic and clinical characteristics of newly diagnosed adults and children (less than 15 years) with leprosy and their trends over time (2008-2015) and 2) to describe the profile of surgical procedures among leprosy patients registered for reconstructive surgeries during 2006-2015...
2016: Global Health Action
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