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https://www.readbyqxmd.com/read/30120852/characterization-of-mutation-spectrum-and-identification-of-novel-mutations-in-atp7b-gene-from-a-cohort-of-wilson-disease-patients-functional-and-therapeutic-implications
#1
Niti Kumari, Aman Kumar, Babu Ram Thapa, Manish Modi, Arnab Pal, Rajendra Prasad
Wilson disease (WD), a copper metabolism disorder, occurs due to the presence of mutations in the gene encoding ATP7B, a protein that primarily facilitates hepatic copper excretion. A better understanding of spectrum and functional significance of ATP7B variants is critical to formulating targeted and personalized therapies. Henceforth, we screened and sequenced 21 exons of ATP7B gene from 50 WD patients and 60 healthy subjects. We identified 28 variants comprising, seven novels in 20% alleles, while eight variations affecting 23% alleles were first time reported in Indian cohort...
August 18, 2018: Human Mutation
https://www.readbyqxmd.com/read/30113006/bioinformatic-analysis-reveals-key-genes-and-pathways-in-aging-brain-of-senescence-accelerated-mice-p8-samp8
#2
Jiaqi Li, Yuzhi Zhou, Guanhua Du, Xuemei Qin, Li Gao
Background Aging is a complex process accompanied with the decline of the different physiological functions. Numerous differentially expressed genes (DEGs) have been found in the aging brain of senescence-accelerated mouse P8 (SAMP8), however, it was challenging to screen out the crucial ones. Objective This study aimed to explore the crucial genes and pathways in aging brain of SAMP8 mice, which would be beneficial for understanding the pathogenesis of brain aging. Method Firstly, 430 genes that are differentially expressed in SAMP8 mice versus SAMR1 mice were obtained from 9 gene expression studies, and gene-gene network was constructed...
August 15, 2018: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/30112518/the-association-of-hispanic-ethnicity-with-nonalcoholic-fatty-liver-disease-in-polycystic-ovary-syndrome
#3
M Sarkar, N Terrault, C C Duwaerts, P Tien, M I Cedars, H Huddleston
Polycystic Ovary Syndrome (PCOS) affects 10-15% of reproductive age women and is a recognized risk factor for nonalcoholic fatty liver disease (NAFLD). The more severe form of NAFLD, known as nonalcoholic steatohepatitis (NASH), results in liver inflammation with or without fibrosis, and is now a leading cause of cirrhosis. Ethnic differences are apparent in NAFLD, with higher prevalence in Hispanics, although the role of Hispanic ethnicity on risk for NAFLD/NASH in women with PCOS is not known. OBJECTIVE: The aim of this study was to evaluate ethnic differences in the prevalence and risk of NAFLD/NASH in women with PCOS...
February 20, 2018: Current opinion in gynecology and obstetrics
https://www.readbyqxmd.com/read/30111171/hiv-infection-after-prenatal-screening-an-open-window-leading-to-perinatal-infection
#4
Raynell Lang, Stuart Skinner, Jackie Ferguson, Taj Jadavji, Maria Stadnyk, John Gill
Despite a dramatic decrease in vertical transmission of HIV in the developed world, maternal HIV infection acquired after negative prenatal screening still leaves a window of vulnerability. Through quality assurance programs in two Canadian Provinces, five cases where perinatal HIV transmission occurred despite negative prenatal screening were identified between 2005 and 2015. Maternal risk factors such as intravenous drug use, high-risk sexual behavior, hepatitis C virus co-infection, and belonging to high prevalence minority groups were common...
August 15, 2018: AIDS Care
https://www.readbyqxmd.com/read/30111082/hepatitis-c-in-poland-in-2016
#5
Karolina Zakrzewska, Małgorzata Stępień, Katarzyna Szmulik, Magdalena Rosińska
INTRODUCTION: In 2016, the World Health Organization implemented a Global Strategy to eliminate viral hepatitis. For Hepatitis C, the goals of this Strategy include increased harm reduction coverage, improved safety of medical procedures and an increase the percentage of people diagnosed and treated. OBJECTIVE: This article aims are evaluating the epidemiological situation of HCV infections in Poland in 2016 in reference to the data from previous years. MATERIAL AND METHODS: Analysis of epidemiological situation of hepatitis C in Poland in 2016 was carried out on case-based data collected through routine surveillance system...
2018: Przegla̧d Epidemiologiczny
https://www.readbyqxmd.com/read/30107999/unique-challenges-of-hepatitis-c-in-infants-children-and-adolescents
#6
REVIEW
Claudia Espinosa, Ravi Jhaveri, A Sidney Barritt
PURPOSE: Hepatitis C, a chronic disease with deadly consequences, is no longer predominantly a disease of older people. METHODS: A limited search was conducted of the relevant literature on 2 topics: (1) the impact of hepatitis C on infants exposed by vertical transmission; and (2) the impact of hepatitis C infection on infected children and adolescents. The findings were supplemented by the first-hand experience of the authors. FINDINGS: Young people, including women of childbearing age, infants, children, and adolescents, are being especially affected by hepatitis C infection secondary to the intravenous drug use and opioid epidemic...
August 11, 2018: Clinical Therapeutics
https://www.readbyqxmd.com/read/30107494/high-number-of-potential-transmitters-revealed-in-a-population-based-systematic-hepatitis-c-virus-rna-screening-among-human-immunodeficiency-virus-infected-men-who-have-sex-with-men
#7
Dominique L Braun, Benjamin Hampel, Eileen Martin, Roger Kouyos, Katharina Kusejko, Christina Grube, Markus Flepp, Marcel Stöckle, Anna Conen, Charles Béguelin, Patrick Schmid, Julie Delaloye, Mathieu Rougemont, Enos Bernasconi, Andri Rauch, Huldrych F Günthard, Jürg Böni, Jan S Fehr
Background: The proportion of undiagnosed hepatitis C virus (HCV) infections in high-risk populations, such as human immunodeficiency virus (HIV)-infected men who have sex with men (MSM) is unclear. Identification of potential HCV transmitters is important to reach World Health Organization HCV elimination targets. Methods: Between October 2015 and May 2016, we performed a systematic HCV RNA-based screening among HIV-infected MSM participating in the Swiss HIV Cohort Study (SHCS)...
August 13, 2018: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/30107485/high-cure-rates-with-grazoprevir-elbasvir-with-or-without-ribavirin-guided-by-genotypic-resistance-testing-among-human-immunodeficiency-virus-hepatitis-c-virus-coinfected-men-who-have-sex-with-men
#8
Dominique L Braun, Benjamin Hampel, Roger Kouyos, Huyen Nguyen, Cyril Shah, Markus Flepp, Marcel Stöckle, Anna Conen, Charles Béguelin, Patrizia Künzler-Heule, Dunja Nicca, Patrick Schmid, Julie Delaloye, Mathieu Rougemont, Enos Bernasconi, Andri Rauch, Huldrych F Günthard, Jürg Böni, Jan S Fehr
Background: This study was performed to investigate the efficacy and safety of grazoprevir-elbasvir guided by baseline resistance-associated substitutions (RASs) in the Swiss HCVree Trial (clinicaltrials.gov NCT02785666). Methods: We performed hepatitis C virus (HCV) RNA screening among all men who have sex with men (MSM) enrolled in the Swiss HIV Cohort Study. Individuals with replicating HCV genotype 1 or 4 infection were eligible for grazoprevir-elbasvir treatment...
August 13, 2018: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/30106685/label-free-biomolecule-detection-in-physiological-solutions-with-enhanced-sensitivity-using-graphene-nanogrids-fet-biosensor
#9
R Ray, J Basu, W A Gazi, N Samanta, K Bhattacharyya, C Roy Chaudhuri
Recently, graphene nanogrid sensor has been reported to be capable of sub-femtomolar sensing of Hepatitis B (Hep-B) surface antigen in buffer. However, for such low concentration of Hep-B in serum, it has been observed during real time operation, that there is an overlap of around 50% in the drain-source current sensitivity values between different concentrations of the target biomolecule, in the range of 0.1 fM to 100 fM. This has been attributed to the fact that the concentration of non-specific antigen in serum being significantly higher than that of the target antigen, there is a considerable deviation in the number of captured target antigen for the same concentration...
August 6, 2018: IEEE Transactions on Nanobioscience
https://www.readbyqxmd.com/read/30104863/discovery-of-nonnucleoside-inhibitors-of-polymerase-from-infectious-pancreatic-necrosis-virus-ipnv
#10
Melissa Bello-Pérez, Alberto Falcó, Vicente Galiano, Julio Coll, Luis Perez, José Antonio Encinar
Introduction: Infectious pancreatic necrosis virus (IPNV) causes serious losses in several fish species of commercial interest. IPNV is a non-enveloped double-stranded RNA virus with a genome consisting of two segments A and B. Segment B codes for the VP1 protein, a non-canonical RNA-dependent RNA polymerase that can be found both in its free form and linked to the end of genomic RNA, an essential enzyme for IPNV replication. Materials and methods: We take advantage of the knowledge over the allosteric binding site described on the surface of the thumb domain of Hepatitis C virus (HCV) polymerase to design new non-nucleoside inhibitors against the IPNV VP1 polymerase...
2018: Drug Design, Development and Therapy
https://www.readbyqxmd.com/read/30103009/scarb1-rs5888-gene-polymorphisms-in-coronary-heart-disease-a-systematic-review-and-a-meta-analysis
#11
Ruchao Ma, Xiaoyun Zhu, Bo Yan
BACKGROUND: Studies have suggested that high-density lipoprotein (HDL) stimulates scavenger receptor class B type 1 (SR-B1) to promote hepatic uptake of cholesterol. SR-B1 is encoded by scavenger receptor class B member 1 (SCARB1) gene in human. A rare mutation in SCARB1 gene has been associated with coronary heart disease (CHD). A polymorphism rs5888 of SCARB1 gene has been linked to CHD risk in humans. OBJECTIVES: The objective was to investigate the relationship between the SCARB1 gene polymorphism rs5888 and risk of CHD...
August 10, 2018: Gene
https://www.readbyqxmd.com/read/30098967/a-bayesian-model-to-predict-survival-after-left-ventricular-assist-device-implantation
#12
Manreet K Kanwar, Lisa C Lohmueller, Robert L Kormos, Jeffrey J Teuteberg, Joseph G Rogers, JoAnn Lindenfeld, Stephen H Bailey, Colleen K McIlvennan, Raymond Benza, Srinivas Murali, James Antaki
OBJECTIVES: This study investigates the use of a Bayesian statistical models to predict survival at various time points in patients undergoing left ventricular assist device (LVAD) implantation. BACKGROUND: LVADs are being increasingly used in patients with end-stage heart failure. Appropriate patient selection continues to be key in optimizing post-LVAD outcomes. METHODS: Data used for this study were derived from 10,277 adult patients from the INTERMACS (Inter-Agency Registry for Mechanically Assisted Circulatory Support) who had a primary LVAD implanted between January 2012 and December 2015...
August 7, 2018: JACC. Heart Failure
https://www.readbyqxmd.com/read/30098847/meta-analysis-of-the-efficacy-and-safety-of-structured-triglyceride-lipid-emulsions-in-parenteral-nutrition-therapy-in-china
#13
Chao Li, Qian Ni, Yifang Pei, Yi Ren, Yufei Feng
BACKGROUND & AIMS: We performed a meta-analysis of data from recent studies to evaluate the safety and efficacy of parenteral nutrition (PN) with structured triglyceride (STG) lipid emulsions compared to medium-chain triglyceride (MCT)/long-chain triglyceride (LCT) lipid emulsions in Chinese patients. METHODS: PubMed, Embase, Cochrane Library, China National Knowledge Internet, Wanfang, and VIP were searched for randomized controlled trials comparing STGs with MCTs/LCTs published in English or Chinese between January 1987 and October 2017...
July 25, 2018: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/30092234/estimate-of-hepatocellular-carcinoma-s-incidence-in-patients-with-alcoholic-cirrhosis
#14
Nathalie Ganne-Carrié, Cendrine Chaffaut, Valérie Bourcier, Isabelle Archambeaud, Jean-Marc Perarnau, Frédéric Oberti, Dominique Roulot, Christophe Moreno, Alexandre Louvet, Thông Dao, Romain Moirand, Odile Goria, Eric Nguyen-Khac, Nicolas Carbonell, Térésa Antonini, Stanislas Pol, Victor de Ledinghen, Violaine Ozenne, Jean Henrion, Jean-Marie Péron, Albert Tran, Gabriel Perlemuter, Xavier Amiot, Jean-Pierre Zarski, Michel Beaugrand, Sylvie Chevret
BACKGROUND AND AIMS: The CIRRAL cohort aimed to assess the burden of complications in patients with alcoholic cirrhosis, particularly the occurrence of hepatocellular carcinoma (HCC). PATIENTS: With biopsy-proven compensated alcoholic cirrhosis were included then prospectively followed. The main end point was the incidence of HCC. Secondary outcomes were incidence of hepatic focal lesions, overall survival (OS), liver-related mortality and event-free survival (EFS)...
August 6, 2018: Journal of Hepatology
https://www.readbyqxmd.com/read/30091654/hepatitis-c-virus-infection-in-children-how-do-we-prevent-it-and-how-do-we-treat-it
#15
Anuli Nwaohiri, Sarah Schillie, Marc Bulterys, Athena P Kourtis
Hepatitis C Virus (HCV) infection is an important contributor to the worldwide burden of liver-related morbidity and mortality. Mother-to-child transmission of HCV ranges from 6-11% in different populations globally, but accurate estimates on the burden of pediatric HCV infection are limited because screening approaches are not consistent. Areas covered: The advent of new direct-acting antiviral agents that achieve very high rates of sustained virologic response, (representing virologic cure) with short (i...
August 9, 2018: Expert Review of Anti-infective Therapy
https://www.readbyqxmd.com/read/30084416/detection-of-anti-hepatitis-c-virus-and-hepatitis-c-virus-rna-in-dried-blood-spot-specimens-using-whatman-no-1-filter-paper
#16
Ritapa Ghosh, Naba Kumar Hazarika
Purpose: Dried blood spot (DBS) specimen simplifies blood collection, processing, storage and shipment and may reduce the cost of testing for hepatitis C virus (HCV) infection. We wanted to see if DBS using a cheap filter paper is reliable alternative to serum for detection of anti-HCV and HCV RNA. Materials and Methods: At a tertiary care hospital in Northeast India, we collected 91 paired DBS and serum specimens from patients at risk of HCV infection from July 2014 to June 2015...
April 2018: Indian Journal of Medical Microbiology
https://www.readbyqxmd.com/read/30082568/genotyping-diagnostic-methods-for-hepatitis-c-virus-a-need-of-low-resource-countries
#17
REVIEW
Anoop Kumar, Manoj Kumar Rajput, Deepika Paliwal, Aakanksha Yadav, Reba Chhabra, Surinder Singh
Hepatitis C virus (HCV) infection is a blood borne and transfusion-transmitted infection (TTI). It has emerged as one of the major health challenges worldwide. In India, around 12-18 million peoples are infected with HCV, but in terms of prevalence percentage, its looks moderate due to large population. The burden of the HCV infection increases due to lack of foolproof screening of blood and blood products before transfusion. The qualified screening and quantification of HCV play an important role in diagnosis and treatment of HCV-related diseases...
May 2018: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/30080852/a-systematic-review-of-hepatitis-b-virus-hbv-drug-and-vaccine-escape-mutations-in-africa-a-call-for-urgent-action
#18
Jolynne Mokaya, Anna L McNaughton, Martin J Hadley, Apostolos Beloukas, Anna-Maria Geretti, Dominique Goedhals, Philippa C Matthews
International sustainable development goals for the elimination of viral hepatitis as a public health problem by 2030 highlight the pressing need to optimize strategies for prevention, diagnosis and treatment. Selected or transmitted resistance associated mutations (RAMs) and vaccine escape mutations (VEMs) in hepatitis B virus (HBV) may reduce the success of existing treatment and prevention strategies. These issues are particularly pertinent for many settings in Africa where there is high HBV prevalence and co-endemic HIV infection, but lack of robust epidemiological data and limited education, diagnostics and clinical care...
August 6, 2018: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/30080289/donor-derived-hepatitis-c-in-the-era-of-increasing-intravenous-drug-use-a-report-of-the-disease-transmission-advisory-committee
#19
Daniel R Kaul, Susan M Tlusty, Marian G Michaels, Ajit P Limaye, Cameron R Wolfe
The opioid epidemic has resulted in a potential increase in donors in the testing window period for hepatitis C virus (HCV). We analyzed HCV reports to the Disease Transmission Advisory Committee (DTAC) between 2008 and 2016 to estimate the risk of HCV transmission. In 15 of 95 (16%) reports, at least one recipient developed proven/ probable donor-derived HCV resulting in 32 infected recipients. Seven transmissions occurred during the nucleic acid testing (NAT) window period; 4 occurred during serological window period...
August 6, 2018: Clinical Transplantation
https://www.readbyqxmd.com/read/30079802/hepatitis-b-virus-reactivation-following-imatinib-therapy-a-comparative-review-of-9-cases
#20
Faisal Inayat, Fei Song, Nouman Safdar Ali, Muhammad Haseeb Aslam, Aishatu Aloma, Hilal Hachem, Muhammad Wasif Saif
Patients undergoing cytotoxic or immunosuppressive therapy for cancer have an established predilection for hepatitis B virus reactivation; however, the risk associated with newer molecularly targeted agents has not been well investigated. Imatinib, a small molecule tyrosine kinase inhibitor, induces rapid and sustained clinical benefit by inhibiting a number of signaling pathways, including BCR-ABL and c-KIT. We report the case of a patient who developed hepatitis B virus reactivation while receiving imatinib therapy for gastrointestinal stromal tumor...
August 4, 2018: Journal of Oncology Pharmacy Practice
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