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https://www.readbyqxmd.com/read/28724664/biochemical-molecular-and-clinical-characterization-of-succinate-dehydrogenase-subunit-a-variants-of-unknown-significance
#1
Amber E Bannon, Jason D Kent, Isaac Forquer, Ajia Town, Lillian R Klug, Kelly E McCann, Carol Beadling, Olivier Harismendy, Jason K Sicklick, Christopher L Corless, Ujwal Shinde, Michael C Heinrich
Patients who inherit a pathogenic loss-of-function genetic variant involving one of the four succinate dehydrogenase (SDH) subunit genes have up to an 86% chance of developing one or more cancers by the age of 50. If tumors are identified and removed early in these high-risk patients, they have a higher potential for cure.  Unfortunately, many alterations identified in these genes are variants of unknown significance (VUS), confounding the identification of high-risk patients. If we could identify misclassified SDH VUS as benign or pathogenic SDH mutations, we could better select patients for cancer screening procedures and remove tumors at earlier stages...
July 19, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28720665/targeted-exome-sequencing-of-krebs-cycle-genes-reveals-candidate-cancer-predisposing-mutations-in-pheochromocytomas-and-paragangliomas
#2
Laura Remacha, Iñaki Comino-Méndez, Susan Richter, Laura Contreras, Maria Currás-Freixes, Guillermo Pita, Rocío Letón, Antonio Galarreta, Rafael Torres-Pérez, Emiliano Honrado, Scherezade Jiménez, Lorena Maestre, Sebastian Moran, Manel Esteller, Jorgina Satrústegui, Graeme Eisenhofer, Mercedes Robledo, Alberto Cascon
Purpose: Mutations in Krebs cycle genes are frequently found in patients with pheochromocytomas/paragangliomas. Disruption of SDH, FH or MDH2 enzymatic activities lead to accumulation of specific metabolites, which give rise to epigenetic changes in the genome that cause a characteristic hypermethylated phenotype. Tumors showing this phenotype, but no alterations in the known predisposing genes, could harbor mutations in other Krebs cycle genes. <p>Experimental Design: We used downregulation and methylation of RBP1, as a marker of a hypermethylation phenotype, to select eleven pheochromocytomas and paragangliomas for targeted exome sequencing of a panel of Krebs cycle-related genes...
July 18, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28720625/developing-electronic-health-record-ehr-strategies-related-to-health-center-patients-social-determinants-of-health
#3
Rachel Gold, Erika Cottrell, Arwen Bunce, Mary Middendorf, Celine Hollombe, Stuart Cowburn, Peter Mahr, Gerardo Melgar
BACKGROUND: "Social determinants of heath" (SDHs) are nonclinical factors that profoundly affect health. Helping community health centers (CHCs) document patients' SDH data in electronic health records (EHRs) could yield substantial health benefits, but little has been reported about CHCs' development of EHR-based tools for SDH data collection and presentation. METHODS: We worked with 27 diverse CHC stakeholders to develop strategies for optimizing SDH data collection and presentation in their EHR, and approaches for integrating SDH data collection and the use of those data (eg, through referrals to community resources) into CHC workflows...
July 2017: Journal of the American Board of Family Medicine: JABFM
https://www.readbyqxmd.com/read/28720624/screening-for-social-determinants-of-health-in-michigan-health-centers
#4
Elena Byhoff, Alicia J Cohen, Mary C Hamati, Julie Tatko, Matthew M Davis, Renuka Tipirneni
OBJECTIVE: Through an academic-community partnership with a statewide consortium of health centers (HCs) in Michigan, we characterize the current scope of screening for social determinants of health (SDH). METHODS: We requested copies of forms used to screen for SDH at the 39 HC organizations in Michigan. Using content analysis, we examined variation in screening domains and processes. We present descriptive analyses of HC characteristics and patient demographics...
July 2017: Journal of the American Board of Family Medicine: JABFM
https://www.readbyqxmd.com/read/28710913/expression-and-promoter-methylation-of-succinate-dehydrogenase-and-fumarase-genes-in-maize-under-anoxic-conditions
#5
Alexander T Eprintsev, Dmitry N Fedorin, Maria A Dobychina, Abir U Igamberdiev
Succinate dehydrogenase (SDH) and fumarase enzyme activity and expression of genes encoding the SDH subunits A (Sdh1-2), B (Sdh2-3), C (Sdh3), D (Sdh4) and the mitochondrial (Fum1) and cytosolic (Fum2) isoforms of fumarase were quantified in maize (Zea mays L.) seedlings exposed to atmospheres of air (control), N2, and CO2. The catalytic activity of SDH gradually declined in plants exposed to N2 atmospheres, with ∼40% activity remaining after 24h. In seedlings incubated in CO2, the suppression was even more pronounced...
July 4, 2017: Journal of Plant Physiology
https://www.readbyqxmd.com/read/28707464/biosynthesis-of-l-erythrose-by-assembly-of-two-key-enzymes-in-gluconobacter-oxydans
#6
Xingxing Zou, Yuhong Ren, Jinping Lin, Xinlei Mao, Shengyun Zhao
L-erythrose, a rare aldotetrose, possesses various pharmacological activities. However, efficient L-erythrose production is challenging. Currently, L-erythrose is produced by a two-step fermentation process from erythritol. Here, we describe a novel strategy for the production of L-erythrose in Gluconobacter oxydans (G. oxydans) by localizing the assembly of L-ribose isomerase (L-RI) to membrane-bound sorbitol dehydrogenase (SDH) via the protein-peptide interactions of the PDZ domain and PDZ ligand. To demonstrate this self-assembly, green fluorescent protein (GFP) replaced L-RI and its movement to membrane-bound SDH was observed by fluorescence microscopy...
July 14, 2017: Journal of Agricultural and Food Chemistry
https://www.readbyqxmd.com/read/28707373/biomarker-responses-and-pah-ratios-in-fish-inhabiting-an-estuarine-urban-waterway
#7
Rafael Mendonça Duarte, Helen Sadauskas-Henrique, Vera Maria Fonseca de Almeida-Val, Adalberto Luis Val, Helen Elizabeth Nice, Marthe Monique Gagnon
Many cities worldwide are established adjacent to estuaries and their catchments resulting in estuarine contamination due to intense anthropogenic activities. The aim of this study was to evaluate if fish living in an estuarine urban waterway were affected by contamination, via the measurement of a suite of biomarkers of fish health. Black bream (Acanthopagrus butcheri) were sampled in a small urban embayment and a suite of biomarkers of fish health measured. These were condition factor (CF), liver somatic index (LSI), gonadosomatic index (GSI), hepatic EROD activity, polycyclic aromatic hydrocarbon (PAH) biliary metabolites, serum sorbitol dehydrogenase (s-SDH) and branchial enzymes cytochrome C oxidase (CCO), and lactate dehydrogenase (LDH) activities...
July 14, 2017: Environmental Toxicology
https://www.readbyqxmd.com/read/28700597/differentially-expressed-micrornas-in-diapausing-versus-hcl-treated-bombyx-embryos
#8
Wentao Fan, Yangsheng Zhong, Mingyue Qin, Bimin Lin, Fangyan Chen, Huichao Yan, Wenchu Li, Jianrong Lin
Differentially expressed microRNAs were detected to explore the molecular mechanisms of diapause termination. The total small RNA of diapause-destined silkworm eggs and HCl-treated eggs was extracted and then sequenced using HiSeq high-throughput method. 44 novel miRNAs were discovered. Compared to those in the diapause-destined eggs, 61 miRNAs showed significant changes in the acid-treated eggs, with 23 being up-regulated and 38 being down-regulated. The potential target genes of differentially expressed miRNAs were predicted by miRanda...
2017: PloS One
https://www.readbyqxmd.com/read/28698750/the-relationship-between-risk-factors-of-head-trauma-with-ct-scan-findings-in-children-with-minor-head-trauma-admitted-to-hospital
#9
Babak Masoumi, Farhad Heydari, Hamidreza Hatamabadi, Reza Azizkhani, Zahra Yoosefian, Majid Zamani
BACKGROUND: In emergency medicine for determining the intracranial injury (ICI) in children with head trauma, usually brain CT scan is performed. Since brain CT scan, especially in children, has some disadvantages, it is better to find a procedure which could help to choose only the children with real head trauma injury for brain CT scan. AIMS: The aim of this study is to find such procedure. This study was descriptive, analytic and non-interventional. METHODS: We reviewed the archived files of children with head trauma injuries referred to the emergency department of Imam Hossein Hospital within two years...
June 15, 2017: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28698640/enhancement-of-carrier-transport-characteristic-in-the-sb2se2te-topological-insulators-by-n2-adsorption
#10
Shiu-Ming Huang, Shih-Jhe Huang, Ching Hsu, Paritosh V Wadekar, You-Jhih Yan, Shih-Hsun Yu, Mitch Chou
The carrier transport characteristics of Sb2Se2Te topological insulators were investigated, after exposure to different levels of nitrogen gas. The magnetoresistance (MR) slope for the Sb2Se2Te crystal increased by approximately 100% at 10 K after 2-days of exposure. The Shubnikov-de Haas (SdH) oscillation amplitude increased by 30% while oscillation frequencies remained the same. MR slopes and the mobilities had the same dependency on temperature over a wide temperature range. All measured data conformed to a linear correlation between MR slope and mobility, supporting our hypothesis that the MR increase and the SdH oscillation enhancement might be caused by mobility enhancement induced by adsorbed N2 molecular...
July 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28696376/lack-of-additive-effects-of-resveratrol-and-energy-restriction-in-the-treatment-of-hepatic-steatosis-in-rats
#11
Iñaki Milton-Laskibar, Leixuri Aguirre, Alfredo Fernández-Quintela, Anabela P Rolo, João Soeiro Teodoro, Carlos M Palmeira, María P Portillo
The aims of the present study were to analyze the effect of resveratrol on liver steatosis in obese rats, to compare the effects induced by resveratrol and energy restriction and to research potential additive effects. Rats were initially fed a high-fat high-sucrose diet for six weeks and then allocated in four experimental groups fed a standard diet: a control group, a resveratrol-treated group, an energy restricted group and a group submitted to energy restriction and treated with resveratrol. We measured liver triacylglycerols, transaminases, FAS, MTP, CPT1a, CS, COX, SDH and ATP synthase activities, FATP2/FATP5, DGAT2, PPARα, SIRT1, UCP2 protein expressions, ACC and AMPK phosphorylation and PGC1α deacetylation...
July 11, 2017: Nutrients
https://www.readbyqxmd.com/read/28694618/single-parietal-burr-hole-craniostomy-with-irrigation-and-drainage-for-unilateral-chronic-subdural-hematoma-in-young-adults-40-years-a-rationale-behind-the-procedure
#12
Raj S Chandran, Milesh Nagar, M S Sharmad, Rajmohan B Prabhakar, Anil K Peethambaran, Shailesh Kumar, Saurabh Sharma, Sourabh K Jain
BACKGROUND: Chronic subdural hematoma (CSDH) is one of the most common neurosurgical conditions. It is mostly a disease of elderly population with very little data about the young patients. There is also the debate regarding treatment strategies. We decided to determine the overall efficacy of the single burr-hole craniostomy (SBHC) for unilateral CSDH in young adults <40 years. SUBJECTS AND METHODS: We performed a retrospective study of young patients undergoing SBHC for unilateral CSDH between January 2013 and June 2016 at our institution...
July 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28686977/cardioprotective-effect-of-the-xanthones-from-gentianella-acuta-against-myocardial-ischemia-reperfusion-injury-in-isolated-rat-heart
#13
Zhibin Wang, Gaosong Wu, Hua Liu, Na Xing, Yanping Sun, Yadong Zhai, Bingyou Yang, Ah-Ng Tony Kong, Haixue Kuang, Qiuhong Wang
Gentianella acuta (Michx.) Hulten is widely used for the treatment of arrhythmia and coronary heart disease in Ewenki Folk Medicinal Plants and Mongolian Medicine, popularly known as "Wenxincao" in China. To investigate the potential protective role of the xanthones from G. acuta against myocardial I/R injury in isolated rat heart and its possible related mechanism. The protective role of xanthones on myocardial I/R injury was studied on Langendorff apparatus. The hemodynamic parameters including the left ventricular developed pressure (LVDP), the maximum rate of up/down left intraventricular pressure (±dp/dtmax), coronary flow (CF) and heart rate (HR) were recorded during the perfusion...
July 4, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28680103/chemogenetic-silencing-of-gabaergic-dorsal-horn-interneurons-induces-morphine-resistant-spontaneous-nocifensive-behaviours
#14
Keisuke Koga, Kensho Kanehisa, Yuta Kohro, Miho Shiratori-Hayashi, Hidetoshi Tozaki-Saitoh, Kazuhide Inoue, Hidemasa Furue, Makoto Tsuda
Inhibitory interneurons in the spinal dorsal horn (SDH) are crucial for processing somatosensory information originating in the periphery. However, the effects of the acute and selective inactivation of GABAergic SDH interneurons on pain processing are not fully understood. In this study, we used designer receptors exclusively activated by designer drugs (DREADD) technology and vesicular GABA transporter-Cre (Vgat-Cre) mice to selectively express a modified human muscarinic Gi protein-coupled receptor (hM4Di) in Vgat-Cre (+) GABAergic SDH interneurons in the fourth lumbar segment...
July 5, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28671930/icd-social-codes-an-underutilized-resource-for-tracking-social-needs
#15
Jacqueline M Torres, John Lawlor, Jeffrey D Colvin, Marion R Sills, Jessica L Bettenhausen, Amber Davidson, Gretchen J Cutler, Matt Hall, Laura M Gottlieb
BACKGROUND: Social determinants of health (SDH) data collected in health care settings could have important applications for clinical decision-making, population health strategies, and the design of performance-based incentives and penalties. One source for cataloging SDH data is the International Statistical Classification of Diseases and Related Health Problems (ICD). OBJECTIVE: To explore how SDH are captured with ICD Ninth revision SDH V codes in a national inpatient discharge database...
June 30, 2017: Medical Care
https://www.readbyqxmd.com/read/28664018/embolization-for-refractory-subacute-subdural-hematoma-in-a-child-with-severe-hemophilia-type-a
#16
Ayuho Higaki, Katsunari Namba, Eiju Watanabe, Shigeru Nemoto, Akira Gomi
Hemophilia is an X-linked hemorrhagic disease due to coagulation factor VIII or IX deficiency with approximately 5-10% incidence of central nervous system bleeding. We present an intriguing case of a refractory subacute subdural hematoma (SDH) controlled with endovascular embolization in a hemophilic patient. A 5-year-old severe hemophilic A boy presented with a life threatening left parietal subcortical hemorrhage, for which he underwent craniotomy and evacuation of the hematoma. Recurrent hemorrhage necessitated a repeat craniotomy...
January 2017: NMC Case Rep J
https://www.readbyqxmd.com/read/28659748/anti-fatigue-effects-of-dietary-nucleotides-in-mice
#17
Meihong Xu, Rui Liang, Yong Li, Junbo Wang
As the building blocks of nucleic acids, nucleotides are conditionally essential nutrients that exhibit multifaceted activities. The present study aimed to evaluate the anti-fatigue effects of dietary nucleotides (NTs) on mice and explore the possible underlying mechanism. Mice were randomly divided into four experimental sets to detect different indicators. Each set of mice was then divided into four groups: (i) one control group and (ii) three NTs groups, which were fed diets supplemented with NTs at concentrations of 0%, 0...
2017: Food & Nutrition Research
https://www.readbyqxmd.com/read/28653430/misdiagnosis-of-spontaneous-intracranial-hypotension-as-a-risk-factor-for-subdural-hematoma
#18
Youn-Jung Kim, Hyun-Young Cho, Dong-Woo Seo, Chang Hwan Sohn, Shin Ahn, Yoon-Seon Lee, Won Young Kim, Kyung Soo Lim
OBJECTIVE: This study aimed to evaluate the association between misdiagnosis of spontaneous intracranial hypotension (SIH) and subdural hematoma development. BACKGROUND: Although SIH is more prevalent than expected and causes potentially life-threatening complications including subdural hematoma (SDH), the association between misdiagnosis of SIH and SDH development is not yet evaluated. METHODS: Retrospective observational study was conducted between January 1, 2005, and December 31, 2014...
June 26, 2017: Headache
https://www.readbyqxmd.com/read/28651317/effects-of-multi-environmental-factors-on-physiological-and-biochemical-responses-of-large-yellow-croaker-larimichthys-crocea
#19
Qian-Feng Wang, Wei-Liang Shen, Cheng Liu, Dan-Li Mu, Xiong-Fei Wu, Nian-Gang Guo, Jun-Quan Zhu
Land-based recirculating aquaculture systems (RAS) and cage culture are important methods of Larimichthys crocea production. The effects of environmental factors on physiological and biochemical aspects of L. crocea require clarification. Temperature and salinity are controlled in RAS and directly affect L. crocea growth and survival. To explore optimal parameters, the oxygen consumption rate (RO), ammonium excretion rate (RN), and O/N ratio at different temperatures (8, 14, 20, 26, and 32 °C) and salinities (5, 15, 25, and 35‰) were determined...
June 13, 2017: Chemosphere
https://www.readbyqxmd.com/read/28646318/primary-renal-paragangliomas-and-renal-neoplasia-associated-with-pheochromocytoma-paraganglioma-analysis-of-von-hippel-lindau-vhl-succinate-dehydrogenase-sdhx-and-transmembrane-protein-127-tmem127
#20
Sounak Gupta, Jun Zhang, Dragana Milosevic, John R Mills, Stefan K Grebe, Steven C Smith, Lori A Erickson
Alterations of von Hippel-Lindau (VHL), succinate dehydrogenase (SDHX), and TMEM127 have been associated with the development of pheochromocytomas (PCs) and paragangliomas (PGLs) and are also associated with the development of renal neoplasms. This study involved 2 primary renal PGL and 12 cases of PC/PGL with associated renal neoplasia with a mean follow up of 74 months. Germline VHL and SDHX mutation status was obtained from the medical record. Immunohistochemistry for SDHB and mutation analysis for TMEM127 was performed, in addition to analysis of The Cancer Genome Atlas datasets for SDHX and TMEM127 mutated renal cell carcinomas (RCCs)...
June 23, 2017: Endocrine Pathology
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