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https://www.readbyqxmd.com/read/27920535/prevalence-of-alcohol-use-disorders-and-associated-factors-among-people-with-epilepsy-attending-amanuel-mental-specialized-hospital-addis-ababa-ethiopia
#1
Tsegereda Waja, Jemal Ebrahim, Zegeye Yohannis, Asres Bedaso
INTRODUCTION: Alcohol use disorders represent one of the leading causes of preventable death, illness, and injury in many societies throughout the world. Heavy alcohol consumption has multiple negative consequences for people with epilepsy such as precipitation of seizure, exacerbation of seizure, poor seizure control, increased side effects of antiepileptic drugs, noncompliance to antiepileptic drugs, alcohol withdrawal seizures, long-term hospital admission, status epilepticus, sudden unexpected death, and premature mortality...
2016: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/27920283/what-can-we-do-for-people-with-drug-resistant-epilepsy-the-2016-wartenberg-lecture
#2
Jerome Engel
Treatment goals for epilepsy are no seizures, no side effects, as soon as possible, but these goals are too often unmet. Approximately 1 million people in the United States continue to have seizures despite adequate treatment with antiseizure drugs, representing 40% of those with epilepsy, and 80% of the cost of epilepsy. Drug-resistant epilepsy (DRE) can be associated with developmental delay in infants and young children, and severe disability and morbidity in older children and adults, as well as a mortality rate 5-10 times that of the general population...
December 6, 2016: Neurology
https://www.readbyqxmd.com/read/27918760/risk-factors-protective-factors-and-current-recommendations-to-reduce-sudden-infant-death-syndrome-a-review
#3
Rebecca F Carlin, Rachel Y Moon
Importance: Sudden infant death syndrome remains the leading cause of death in infants aged 1 month to 1 year in the United States. Observations: While its exact cause is unknown, sudden infant death syndrome is believed to be multifactorial, ie, occurs in infants with underlying biological vulnerability who experience an exogenous stressor, such as prone/side sleeping or soft bedding, during a critical developmental period. Much genetic and physiologic evidence points to impaired arousal responses to hypercarbia and hypoxia, which ultimately leads to asphyxia...
December 5, 2016: JAMA Pediatrics
https://www.readbyqxmd.com/read/27916000/nut-consumption-and-risk-of-cardiovascular-disease-total-cancer-all-cause-and-cause-specific-mortality-a-systematic-review-and-dose-response-meta-analysis-of-prospective-studies
#4
Dagfinn Aune, NaNa Keum, Edward Giovannucci, Lars T Fadnes, Paolo Boffetta, Darren C Greenwood, Serena Tonstad, Lars J Vatten, Elio Riboli, Teresa Norat
BACKGROUND: Although nut consumption has been associated with a reduced risk of cardiovascular disease and all-cause mortality, data on less common causes of death has not been systematically assessed. Previous reviews missed several studies and additional studies have since been published. We therefore conducted a systematic review and meta-analysis of nut consumption and risk of cardiovascular disease, total cancer, and all-cause and cause-specific mortality. METHODS: PubMed and Embase were searched for prospective studies of nut consumption and risk of cardiovascular disease, total cancer, and all-cause and cause-specific mortality in adult populations published up to July 19, 2016...
December 5, 2016: BMC Medicine
https://www.readbyqxmd.com/read/27913695/a-randomized-double-blind-placebo-controlled-trial-of-coenzyme-q10-in-huntington-disease
#5
Andrew McGarry, Michael McDermott, Karl Kieburtz, Elisabeth A de Blieck, Flint Beal, Karen Marder, Christopher Ross, Ira Shoulson, Peter Gilbert, William M Mallonee, Mark Guttman, Joanne Wojcieszek, Rajeev Kumar, Mark S LeDoux, Mary Jenkins, H Diana Rosas, Martha Nance, Kevin Biglan, Peter Como, Richard M Dubinsky, Kathleen M Shannon, Padraig O'Suilleabhain, Kelvin Chou, Francis Walker, Wayne Martin, Vicki L Wheelock, Elizabeth McCusker, Joseph Jankovic, Carlos Singer, Juan Sanchez-Ramos, Burton Scott, Oksana Suchowersky, Stewart A Factor, Donald S Higgins, Eric Molho, Fredy Revilla, John N Caviness, Joseph H Friedman, Joel S Perlmutter, Andrew Feigin, Karen Anderson, Ramon Rodriguez, Nikolaus R McFarland, Russell L Margolis, Eric S Farbman, Lynn A Raymond, Valerie Suski, Sandra Kostyk, Amy Colcher, Lauren Seeberger, Eric Epping, Sherali Esmail, Nancy Diaz, Wai Lun Alan Fung, Alan Diamond, Samuel Frank, Philip Hanna, Neal Hermanowicz, Leon S Dure, Merit Cudkowicz
OBJECTIVE: To test the hypothesis that chronic treatment of early-stage Huntington disease (HD) with high-dose coenzyme Q10 (CoQ) will slow the progressive functional decline of HD. METHODS: We performed a multicenter randomized, double-blind, placebo-controlled trial. Patients with early-stage HD (n = 609) were enrolled at 48 sites in the United States, Canada, and Australia from 2008 to 2012. Patients were randomized to receive either CoQ 2,400 mg/d or matching placebo, then followed for 60 months...
December 2, 2016: Neurology
https://www.readbyqxmd.com/read/27913498/long-term-risk-of-second-malignancy-and-cardiovascular-disease-after-hodgkin-lymphoma-treatment
#6
Flora E van Leeuwen, Andrea K Ng
Long-term survivors of Hodgkin lymphoma (HL) experience several late adverse effects of treatment, with second malignant neoplasms (SMNs) and cardiovascular diseases (CVDs) being the leading causes of death in these patients. Other late effects have also been identified, such as pulmonary dysfunction, endocrinopathies (thyroid dysfunction, infertility), neck muscle atrophy, and persistent fatigue. HL survivors have two- to fourfold increased risks to develop SMNs and CVD compared with the general population...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913291/a-saposin-deficiency-model-in-drosophila-lysosomal-storage-progressive-neurodegeneration-and-sensory-physiological-decline
#7
Samantha J Hindle, Sarita Hebbar, Dominik Schwudke, Christopher J Elliott, Sean T Sweeney
Saposin deficiency is a childhood neurodegenerative lysosomal storage disorder (LSD) that can cause premature death within three months of life. Saposins are activator proteins that promote the function of lysosomal hydrolases that mediate the degradation of sphingolipids. There are four saposin proteins in humans, which are encoded by the prosaposin gene. Mutations causing an absence or impaired function of individual saposins or the whole prosaposin gene lead to distinct LSDs due to the storage of different classes of sphingolipids...
November 29, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/27912078/mouse-double-minute-2-homolog-actively-suppresses-p53-activity-in-oocytes-during-mouse-folliculogenesis
#8
Chen-Xi Zhang, Qin Zhang, Yin-Yin Xie, Xue-Yan He, Cong Xiang, Xiao-Shuang Hou, Ying Zhou, Lai Chen, Guo-Xin Zhang, Geng Liu
The p53 signaling network is indispensible in cellular stress responses and tumor suppression. Negative regulations of p53 by mouse double minute 2 and 4 homologs (MDM2) and (MDM4) are an integrated component of the network and have been implicated in regulating the stress responses and the maintenance of normal development and homeostasis of multiple somatic cell lineages. However, the regulatory role of MDM2 on p53 and stress responses in female germ cells remains undetermined. Here, we used the Cre-loxP system to delete Mdm2 in oocytes at different stages of folliculogenesis in mice...
November 29, 2016: American Journal of Pathology
https://www.readbyqxmd.com/read/27911893/the-mitochondrial-m-aaa-protease-prevents-demyelination-and-hair-greying
#9
Shuaiyu Wang, Julie Jacquemyn, Sara Murru, Paola Martinelli, Esther Barth, Thomas Langer, Carien M Niessen, Elena I Rugarli
The m-AAA protease preserves proteostasis of the inner mitochondrial membrane. It ensures a functional respiratory chain, by controlling the turnover of respiratory complex subunits and allowing mitochondrial translation, but other functions in mitochondria are conceivable. Mutations in genes encoding subunits of the m-AAA protease have been linked to various neurodegenerative diseases in humans, such as hereditary spastic paraplegia and spinocerebellar ataxia. While essential functions of the m-AAA protease for neuronal survival have been established, its role in adult glial cells remains enigmatic...
December 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27909996/modelling-the-cost-effectiveness-of-human-milk-and-breastfeeding-in-preterm-infants-in-the-united-kingdom
#10
James Mahon, Lindsay Claxton, Hannah Wood
OBJECTIVES: To estimate the cost savings and health benefits in the UK NHS that could be achieved if human milk usage in the NICU was increased. METHODS: A systematic review established the disease areas with the strong sources of evidence of the short, medium and long-term benefits of human milk for preterm infants as opposed to the use of formula milk. The analysis assessed the economic impact of reducing rates of necrotising enterocolitis, sepsis, sudden infant death syndrome, leukaemia, otitis media, obesity and neurodevelopmental impairment...
December 2016: Health Economics Review
https://www.readbyqxmd.com/read/27908349/truncating-flnc-mutations-are-associated-with-high-risk-dilated-and-arrhythmogenic-cardiomyopathies
#11
Martín F Ortiz-Genga, Sofía Cuenca, Matteo Dal Ferro, Esther Zorio, Ricardo Salgado-Aranda, Vicente Climent, Laura Padrón-Barthe, Iria Duro-Aguado, Juan Jiménez-Jáimez, Víctor M Hidalgo-Olivares, Enrique García-Campo, Chiara Lanzillo, M Paz Suárez-Mier, Hagith Yonath, Sonia Marcos-Alonso, Juan P Ochoa, José L Santomé, Diego García-Giustiniani, Jorge L Rodríguez-Garrido, Fernando Domínguez, Marco Merlo, Julián Palomino, María L Peña, Juan P Trujillo, Alicia Martín-Vila, Davide Stolfo, Pilar Molina, Enrique Lara-Pezzi, Francisco E Calvo-Iglesias, Eyal Nof, Leonardo Calò, Roberto Barriales-Villa, Juan R Gimeno-Blanes, Michael Arad, Pablo García-Pavía, Lorenzo Monserrat
BACKGROUND: Filamin C (encoded by the FLNC gene) is essential for sarcomere attachment to the plasmatic membrane. FLNC mutations have been associated with myofibrillar myopathies, and cardiac involvement has been reported in some carriers. Accordingly, since 2012, the authors have included FLNC in the genetic screening of patients with inherited cardiomyopathies and sudden death. OBJECTIVES: The aim of this study was to demonstrate the association between truncating mutations in FLNC and the development of high-risk dilated and arrhythmogenic cardiomyopathies...
December 6, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27907128/fasa-registry-on-acute-myocardial-infarction-farmi-feasibility-study-and-pilot-phase-results
#12
Ehsan Bahramali, Alireza Askari, Habib Zakeri, Mojtaba Farjam, Azizallah Dehghan, Kazem Zendehdel
BACKGROUND: Myocardial infarction (MI) is the leading cause of death in Iran. Every attempt to improve treatment patterns and patient outcomes needs a surveillance system to both consider the efficacy and safety measures. Fasa Registry on Myocardial Infarction (FaRMI) is the first population-based registry for acute MI in Iran targeted to provide meticulous description of patients' characteristics, to explore the management patterns of these patients, to discover the degree of adherence to the practice guidelines, and to investigate the determinants of poor in-hospital and later outcomes...
2016: PloS One
https://www.readbyqxmd.com/read/27906197/treatment-and-follow-up-of-venous-thrombosis-in-the-neonatal-intensive-care-unit-a-retrospective-study
#13
J C Bohnhoff, S A DiSilvio, R K Aneja, J R Shenk, Y A Domnina, B S Brozanski, M Good
OBJECTIVE: The critically ill, premature patients of neonatal intensive care units are susceptible to venous thrombosis, an adverse event associated with short- and long-term morbidity. Venous thrombosis is frequently treated with low-molecular-weight heparins (LMWHs) such as enoxaparin, but optimal dosing of LMWH must balance the morbidity of venous thrombosis with the potential adverse affects of anticoagulation. The optimal dosing of enoxaparin for premature infants is unclear. The objective of this study was to describe enoxaparin therapy and follow-up in critically ill neonates diagnosed with venous thrombosis...
December 1, 2016: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/27906081/vacht-overexpression-increases-acetylcholine-at-the-synaptic-cleft-and-accelerates-aging-of-neuromuscular-junctions
#14
Satoshi Sugita, Leland L Fleming, Caleb Wood, Sydney K Vaughan, Matheus P S M Gomes, Wallace Camargo, Ligia A Naves, Vania F Prado, Marco A M Prado, Cristina Guatimosim, Gregorio Valdez
BACKGROUND: Cholinergic dysfunction occurs during aging and in a variety of diseases, including amyotrophic lateral sclerosis (ALS). However, it remains unknown whether changes in cholinergic transmission contributes to age- and disease-related degeneration of the motor system. Here we investigated the effect of moderately increasing levels of synaptic acetylcholine (ACh) on the neuromuscular junction (NMJ), muscle fibers, and motor neurons during development and aging and in a mouse model for amyotrophic lateral sclerosis (ALS)...
October 5, 2016: Skeletal Muscle
https://www.readbyqxmd.com/read/27905939/causes-of-death-in-vanuatu
#15
Karen Carter, Viran Tovu, Jeffrey Tila Langati, Michael Buttsworth, Lester Dingley, Andy Calo, Griffith Harrison, Chalapati Rao, Alan D Lopez, Richard Taylor
BACKGROUND: The population of the Pacific Melanesian country of Vanuatu was 234,000 at the 2009 census. Apart from subsistence activities, economic activity includes tourism and agriculture. Current completeness of vital registration is considered too low to be usable for national statistics; mortality and life expectancy (LE) are derived from indirect demographic estimates from censuses/surveys. Some cause of death (CoD) data are available to provide information on major causes of premature death...
March 15, 2016: Population Health Metrics
https://www.readbyqxmd.com/read/27905492/high-fidelity-computational-simulation-of-thrombus-formation-in-thoratec-heartmate-ii-continuous-flow-ventricular-assist-device
#16
Wei-Tao Wu, Fang Yang, Jingchun Wu, Nadine Aubry, Mehrdad Massoudi, James F Antaki
Continuous flow ventricular assist devices (cfVADs) provide a life-saving therapy for severe heart failure. However, in recent years, the incidence of device-related thrombosis (resulting in stroke, device-exchange surgery or premature death) has been increasing dramatically, which has alarmed both the medical community and the FDA. The objective of this study was to gain improved understanding of the initiation and progression of thrombosis in one of the most commonly used cfVADs, the Thoratec HeartMate II...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27905109/a-lethal-neonatal-phenotype-of-mitochondrial-short-chain-enoyl-coa-hydratase-1-deficiency
#17
F Al Mutairi, H E Shamseldin, M Alfadhel, R J Rodenburg, F S Alkuraya
Short-chain enoyl-CoA hydratase (SCEH) is a mitochondrial enzyme involved in the oxidation of fatty acids and the catabolic pathway of valine and, to a lesser extent, isoleucine. Deficiency of this enzyme was recently shown to cause an early childhood Leigh syndrome phenotype. The few reported patients were compound heterozygotes for two missense or missense with truncating variants in ECHS1 that encodes SCEH. We describe two siblings with severe refractory lactic acidosis and death within the first 2 days of life...
October 13, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27904002/diffuse-mesangial-sclerosis-in-a-child-with-dyskeratosis-congenita-leading-to-end-stage-renal-disease
#18
Abidi Kamel, Taha Sayari, Manel Jellouli, Yousra Hammi, Rim Ghoucha Louzir, Tahar Gargah
Dyskeratosis congenita (DC) is a very rare inherited disorder. It is caused by dysfunction of telomere maintenance. It involves RNA telomerase components relevant to various mutations leading to a classic triad of physical findings consisting of nail dystrophy of the hands and feet, mucosal leukoplakia, and reticular pigmentation of the skin, most commonly on the head, neck, and trunk. Bone marrow failure along with pulmonary complications and malignancies are all common causes of premature death in patients with DC as well as other abnormalities...
November 2016: Iranian Journal of Kidney Diseases
https://www.readbyqxmd.com/read/27898683/mortality-in-hiv-infected-alcohol-and-drug-users-in-st-petersburg-russia
#19
Nadia S Fairbairn, Alexander Y Walley, Debbie M Cheng, Emily Quinn, Carly Bridden, Christine Chaisson, Elena Blokhina, Dmitry Lioznov, Evgeny Krupitsky, Anita Raj, Jeffrey H Samet
In Russia, up to half of premature deaths are attributed to hazardous drinking. The respective roles of alcohol and drug use in premature death among people with HIV in Russia have not been described. Criminalization and stigmatization of substance use in Russia may also contribute to mortality. We explored whether alcohol, drug use and risk environment factors are associated with short-term mortality in HIV-infected Russians who use substances. Secondary analyses were conducted using prospective data collected at baseline, 6 and 12-months from HIV-infected people who use substances recruited between 2007-2010 from addiction and HIV care settings in a single urban setting of St...
2016: PloS One
https://www.readbyqxmd.com/read/27898415/hypotension-and-adverse-outcomes-in-prematurity-comparing-definitions
#20
Deidre St Peter, Christiana Gandy, Suma B Hoffman
BACKGROUND: In the premature neonate, there is no consensus regarding normal blood pressure (BP). The most common definition used is a mean arterial BP (MAP) less than the gestational age (GA); however, studies indicate that the neuroprotective mechanism of autoregulation is lost below a MAP of 30 mm Hg. OBJECTIVE: To determine whether hypotension defined as MAP <30 mm Hg or MAP less than the infant's GA better predicts adverse outcomes of intraventricular hemorrhage (IVH) and death...
November 30, 2016: Neonatology
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