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https://www.readbyqxmd.com/read/28323831/genetic-assessment-of-age-associated-alzheimer-disease-risk-development-and-validation-of-a-polygenic-hazard-score
#1
Rahul S Desikan, Chun Chieh Fan, Yunpeng Wang, Andrew J Schork, Howard J Cabral, L Adrienne Cupples, Wesley K Thompson, Lilah Besser, Walter A Kukull, Dominic Holland, Chi-Hua Chen, James B Brewer, David S Karow, Karolina Kauppi, Aree Witoelar, Celeste M Karch, Luke W Bonham, Jennifer S Yokoyama, Howard J Rosen, Bruce L Miller, William P Dillon, David M Wilson, Christopher P Hess, Margaret Pericak-Vance, Jonathan L Haines, Lindsay A Farrer, Richard Mayeux, John Hardy, Alison M Goate, Bradley T Hyman, Gerard D Schellenberg, Linda K McEvoy, Ole A Andreassen, Anders M Dale
BACKGROUND: Identifying individuals at risk for developing Alzheimer disease (AD) is of utmost importance. Although genetic studies have identified AD-associated SNPs in APOE and other genes, genetic information has not been integrated into an epidemiological framework for risk prediction. METHODS AND FINDINGS: Using genotype data from 17,008 AD cases and 37,154 controls from the International Genomics of Alzheimer's Project (IGAP Stage 1), we identified AD-associated SNPs (at p < 10-5)...
March 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28317453/ebola-virus-epidemiology-diagnosis-and-control-threat-to-humans-lessons-learnt-and-preparedness-plans-an-update-on-its-40-year-s-journey
#2
Raj Kumar Singh, Kuldeep Dhama, Yashpal Singh Malik, Muthannan Andavar Ramakrishnan, Kumaragurubaran Karthik, Rekha Khandia, Ruchi Tiwari, Ashok Munjal, Mani Saminathan, Swati Sachan, Perumal Arumugam Desingu, Jobin Jose Kattoor, Hafiz M N Iqbal, Sunil Kumar Joshi
Ebola virus (EBOV) is an extremely contagious pathogen and causes lethal hemorrhagic fever disease in man and animals with high fatality rates. The recently occurred Ebola virus disease (EVD) outbreaks in the West African countries have categorized it as an international health concern. For the virus maintenance and transmission, the non-human primates and reservoir hosts like fruit bats have played a vital role. Furthermore, the virus may also get transferred through contaminated biological fluids like breast milk, tears, urine, semen, blood, etc...
March 20, 2017: Veterinary Quarterly
https://www.readbyqxmd.com/read/28315724/molecular-detection-of-six-virulence-genes-in-pseudomonas-aeruginosa-isolates-detected-in-children-with-urinary-tract-infection
#3
Ali Badamchi, Hossein Masoumi, Shima Javadinia, Ramin Asgarian, Azardokht Tabatabaee
Although a vast majority of Urinary tract infections (UTIs) are caused by E. coli, epidemiological reports have indicated an increasing rate of such infections caused by some other opportunistic organisms including Pseudomonas aeruginosa. Antimicrobial susceptibility and pathogenesis mechanisms of P. aeruginosa are poorly understood. The aim of this study was to detect some virulence factor genes and antimicrobial susceptibility patterns of P. aeruginosa isolates detected in patients with UTI, in children hospital of Tehran, Tehran, Iran...
March 15, 2017: Microbial Pathogenesis
https://www.readbyqxmd.com/read/28315306/molecular-characterization-of-camelpox-virus-isolates-from-bikaner-india-evidence-of-its-endemicity
#4
Shyam Singh Dahiya, Sachin Kumar, Sharat Chandra Mehta, Raghvendar Singh, Kashi Nath, Shirish D Narnaware, Fateh Chand Tuteja
Camelpox is an important viral disease of camels, which may produce mild skin lesions or severe systemic infections. Camelpox virus (CMLV) isolates retrieved from an incidence of camelpox in camels at Bikaner, India were characterized on the basis of genotype and pathotype. Histopathological examination of the CMLV scab revealed intracytoplasmic-eosinophilic inclusion bodies. The phylogenetic analysis of all eight CMLV isolates for C18L gene nucleotide sequence revealed its clustering with its strains M-96 from Kazakhstan and CMS from Iran...
March 14, 2017: Acta Tropica
https://www.readbyqxmd.com/read/28315021/clinical-strains-of-streptococcus-agalactiae-carry-two-different-variants-of-pathogenicity-island-xii
#5
Eugenia Kuleshevich, Joseph Ferretti, Ilda Santos Sanches, Natesan Balasubramanian, Barbara Spellerberg, Androulla Efstratiou, Paula Kriz, Kornelia Grabovskaya, Olga Arjanova, Alevtina Savitcheva, Valentin Shevchenko, Anton Rysev, Alexander Suvorov
Streptococcus agalactiae or Group B streptococci (GBS) are a common cause of serious diseases of newborns and adults. GBS pathogenicity largely depends on genes located on the accessory genome including several pathogenicity islands (PAI). The present paper is focused on the structure and molecular epidemiological analysis of one of the GBS pathogenicity islands-the pathogenicity island PAI XII (Glaser et al. Mol Microbiol 45(6):1499-1513, 2002). This PAI was found to be composed of three different mobile genetic elements: a composite transposon (PAI-C), a genomic islet (PAI-B), and a pathogenicity island associated with gene sspB1 (PAI-A)...
March 18, 2017: Folia Microbiologica
https://www.readbyqxmd.com/read/28303815/prevalence-and-characterization-of-rotaviruses-in-children-hospitalized-for-diarrheal-disease-in-a-tertiary-care-hospital-pune
#6
Sae Satish Pol, Ashwini Kacharu Dedwal, Sujata Sudhir Ranshing, Shobha Dattatray Chitambar, Sushma Narayan Pednekar, Renu Satish Bharadwaj
BACKGROUND: Diarrhoea remains the second most common cause of death among children below 5 years globally. Among various enteric pathogens, rotavirus appears to be the most important aetiological agent of acute gastroenteritis in infants and young children. Increased understanding of epidemiology of rotavirus infections is needed to improve the vaccine efficacy. AIM: This study aims to determine prevalence rotavirus infection and prevalent circulating strains of rotavirus in and around Pune...
January 2017: Indian Journal of Medical Microbiology
https://www.readbyqxmd.com/read/28303813/molecular-typing-of-chlamydia-trachomatis-an-overview
#7
REVIEW
Jyoti Rawre, Deepak Juyal, Benu Dhawan
Urogenital infection due to Chlamydia trachomatis (CT) is one of the most common bacterial sexually transmitted infections (STIs) and is a major public health problem worldwide. Molecular characterisation of CT is important for understanding the pathophysiological mechanisms of chlamydial disease and its transmission dynamics in sexual networks. Traditionally, strain typing of CT was based on serotyping methods characterising the major outer membrane protein (MOMP). With the advent of polymerase chain reaction and sequencing the era of molecular typing began...
January 2017: Indian Journal of Medical Microbiology
https://www.readbyqxmd.com/read/28302743/heart-failure-in-pediatric-patients-with-congenital-heart-disease
#8
Robert B Hinton, Stephanie M Ware
Heart failure (HF) is a complex clinical syndrome resulting from diverse primary and secondary causes and shared pathways of disease progression, correlating with substantial mortality, morbidity, and cost. HF in children is most commonly attributable to coexistent congenital heart disease, with different risks depending on the specific type of malformation. Current management and therapy for HF in children are extrapolated from treatment approaches in adults. This review discusses the causes, epidemiology, and manifestations of HF in children with congenital heart disease and presents the clinical, genetic, and molecular characteristics that are similar or distinct from adult HF...
March 17, 2017: Circulation Research
https://www.readbyqxmd.com/read/28302601/dairy-consumption-systolic-blood-pressure-and-risk-of-hypertension-mendelian-randomization-study
#9
Ming Ding, Tao Huang, Helle Km Bergholdt, Børge G Nordestgaard, Christina Ellervik, Lu Qi
Objective To examine whether previous observed inverse associations of dairy intake with systolic blood pressure and risk of hypertension were causal.Design Mendelian randomization study using the single nucleotide polymorphism rs4988235 related to lactase persistence as an instrumental variable.Setting CHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology) Consortium.Participants Data from 22 studies with 171 213 participants, and an additional 10 published prospective studies with 26 119 participants included in the observational analysis...
March 16, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/28298449/real-time-sequencing-of-mycobacterium-tuberculosis-are-we-there-yet
#10
Robyn S Lee, Madhukar Pai
Whole genome sequencing has taken a leading role in epidemiologic studies of tuberculosis, but thus far, the real-time, clinical utility has been low, in part due to the requirement for culture. In Votintseva et al (J Clin Microbiol https://doi.org/10.1128/JCM.02483-16), authors present a new method for extracting Mycobacterium tuberculosis DNA directly from smear-positive respiratory samples, generating drug resistance predictions and phylogenetic trees in 44 hours using the Illumina MiSeq. Authors also illustrate the potential for < 24 hour turnaround time from DNA extraction to clinically-relevant results, with Illumina MiniSeq and Oxford Nanopore Technologies' MinION...
March 15, 2017: Journal of Clinical Microbiology
https://www.readbyqxmd.com/read/28298145/genotypic-characterization-of-human-immunodeficiency-virus-type-1-derived-from-antiretroviral-drug-treated-individuals-residing-in-earthquake-affected-areas-in-nepal
#11
Bharat Singh Negi, Tomohiro Kotaki, Sunil Kumar Joshi, Anup Bastola, Minato Nakazawa, Masanori Kameoka
Molecular epidemiological data on human immunodeficiency virus type 1 (HIV-1) are limited in Nepal, and has not been available in areas affected by the April 2015 earthquake. Therefore, we conducted a genotypic study on HIV-1 genes derived from individuals on antiretroviral therapy residing in 14 districts in Nepal highly affected by the earthquake. HIV-1 genomic fragments were amplified from 40 blood samples of HIV treatment-failure individuals, and a sequencing analysis was performed on these genes. In the 40 samples, 29 protease, 32 reverse transcriptase, 25 gag and 21 env genes were sequenced...
March 16, 2017: AIDS Research and Human Retroviruses
https://www.readbyqxmd.com/read/28296271/genome-characterization-of-a-porcine-circovirus-type-3-in-south-china
#12
H Shen, X Liu, P Zhang, L Wang, Y Liu, L Zhang, P Liang, C Song
Porcine circovirus type 3 (PCV3) is a novel circovirus that was associated with porcine dermatitis and nephropathy syndrome, reproductive failure, and multisystemic inflammation. Recently, a PCV3 strain was identified from pyretic and pneumonic piglets in Guangdong province, China. This virus strain was sequenced and designated PCV3-China/GD2016. The complete genome of PCV3-China/GD2016 is 2,000 bp in length and shared 98.5% and 97.4% nucleotide identities with PCV3/29160 and PCV3/2164, respectively. Phylogenetic analysis based on the complete genome showed that PCV3-China/GD2016 clustered with the emerging PCV3 and separated with other virus in genus Circovirus...
March 13, 2017: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/28296015/constitutional-and-functional-genetics-of-human-alcohol-related-hepatocellular-carcinoma
#13
REVIEW
Pierre Nahon, Jean-Charles Nault
Exploration of the constitutional genetics of hepatocellular carcinoma (HCC) has identified numerous variants associated with a higher risk of liver cancer in alcoholic cirrhotic patients. Although Genome Wide Association studies have not been carried out in the field of alcohol-related HCC, common single nucleotide polymorphisms conferring a small increase in the risk of liver cancer risk been identified and been shown to modulate ethanol metabolism, inflammation, oxidative stress, iron or lipid metabolism...
March 14, 2017: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/28295873/mutational-signatures-in-oral-cancer-indicate-a-complex-role-for-tobacco-smoke-carcinogens
#14
G Bradley, M A Magalhaes, M Hyrcza
A recent publication by Alexandrov et al in Science (Alexandrov et al, 2016) presents a new approach to study the genomic changes in cancers associated with tobacco smoking. The genomic analyses, undertaken with a background of epidemiologic and clinical studies, indicate that tobacco smoking causes distinct mutations across the genome that are recognizable collectively as mutational signatures. By studying a range of cancer types that vary in the strength of association with tobacco smoking, including oral cavity cancer, the authors demonstrate the complex roles of tobacco smoke carcinogens in the mutational processes that lead to cancer...
March 13, 2017: Oral Diseases
https://www.readbyqxmd.com/read/28295052/dynamic-circulation-and-genetic-exchange-of-a-shrew-borne-hantavirus-imjin-virus-in-the-republic-of-korea
#15
Seung-Ho Lee, Won-Keun Kim, Jin Sun No, Jeong-Ah Kim, Jin Il Kim, Se Hun Gu, Heung-Chul Kim, Terry A Klein, Man-Seong Park, Jin-Won Song
Hantaviruses (family Bunyaviridae) are enveloped negative-sense tripartite RNA viruses. The natural hosts of hantaviruses include rodents, shrews, moles, and bats. Imjin virus (MJNV) is a shrew-borne hantavirus identified from the Ussuri white-toothed shrews (Crocidura lasiura) in the Republic of Korea (ROK) and China. We have isolated MJNV and determined its prevalence and molecular diversity in Gyeonggi province, ROK. However, the distribution and phylogeography of MJNV in other regions of ROK remain unknown...
March 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28294686/utility-of-combining-whole-genome-sequencing-with-traditional-investigational-methods-to-solve-foodborne-outbreaks-of-salmonella-infections-associated-with-chicken-a-new-tool-for-tackling-this-challenging-food-vehicle
#16
Samuel J Crowe, Alice Green, Kimberly Hernandez, Vi Peralta, Lyndsay Bottichio, Stephanie Defibaugh-Chavez, Aphrodite Douris, Laura Gieraltowski, Kelley Hise, Karen La-Pham, Karen P Neil, Mustafa Simmons, Glenn Tillman, Beth Tolar, Darlene Wagner, Jamie Wasilenko, Kristin Holt, Eija Trees, Matthew E Wise
High consumption rates and a multitude of brands make multistate foodborne outbreaks of Salmonella infections associated with chicken challenging to investigate, but whole genome sequencing is a powerful tool that can be used to assist investigators. Whole genome sequencing of pathogens isolated from clinical, environmental, and food samples is increasingly being used in multistate foodborne outbreak investigations to determine with unprecedented resolution how closely related these isolates are to one another genetically...
March 15, 2017: Journal of Food Protection
https://www.readbyqxmd.com/read/28294087/a-large-outbreak-of-acute-gastroenteritis-in-shippensburg-pennsylvania-1972-revisited-evidence-for-common-source-exposure-to-a-recombinant-gii-pg-gii-3-norovirus
#17
J A Johnson, G I Parra, E A Levenson, K Y Green
Historical outbreaks can be an important source of information in the understanding of norovirus evolution and epidemiology. Here, we revisit an outbreak of undiagnosed gastroenteritis that occurred in Shippensburg, Pennsylvania in 1972. Nearly 5000 people fell ill over the course of 10 days. Symptoms included diarrhea, vomiting, stomach cramps, and fever, lasting for a median of 24 h. Using current techniques, including next-generation sequencing of full-length viral genomic amplicons, we identified an unusual norovirus recombinant (GII...
March 15, 2017: Epidemiology and Infection
https://www.readbyqxmd.com/read/28293907/how-can-genetic-studies-help-us-to-understand-links-between-birth-weight-and-type-2-diabetes
#18
REVIEW
Robin N Beaumont, Momoko Horikoshi, Mark I McCarthy, Rachel M Freathy
PURPOSE OF REVIEW: In observational epidemiology, both low and high birth weights are associated with later type 2 diabetes. The mechanisms underlying the associations are poorly understood. We review evidence for the roles of genetic and non-genetic factors linking both sides of the birth weight distribution to risk of type 2 diabetes, focusing on contributions made by the most recent genome-wide association studies (GWAS) of birth weight. RECENT FINDINGS: There are now nine genetic loci robustly implicated in both fetal growth and type 2 diabetes...
April 2017: Current Diabetes Reports
https://www.readbyqxmd.com/read/28292297/subclinical-left-ventricular-diastolic-dysfunction-and-incident-type-2-diabetes-risk-the-korean-genome-and-epidemiology-study
#19
Juri Park, Jin-Seok Kim, Seong Hwan Kim, Sunwon Kim, Sang Yup Lim, Hong-Euy Lim, Goo-Yeong Cho, Ki-Chul Sung, Jang-Young Kim, Inkyung Baik, Kwang Kon Koh, Jung Bok Lee, Seung Ku Lee, Chol Shin
BACKGROUND: Subclinical left ventricular (LV) diastolic dysfunction in type 2 diabetes (T2D) is a common finding and represents an early sign of diabetic cardiomyopathy. However, the relationship between LV diastolic dysfunction and the incident T2D has not been previously studied. METHODS: A total of 1817 non-diabetic participants (mean age, 54 years; 48% men) from the Korean Genome and Epidemiology Study who were free of cardiovascular disease were studied. LV structure and function were assessed by conventional echocardiography and tissue Doppler imaging...
March 14, 2017: Cardiovascular Diabetology
https://www.readbyqxmd.com/read/28289797/-epidemiology-and-causes-of-parkinson-s-disease
#20
C M Lill, C Klein
Parkinson's disease (PD) is the second most common neurodegenerative disease and has a growing socioeconomic impact due to demographic changes in the industrial nations. There are several forms of PD, a fraction of which (<5%) are monogenic, i. e. caused by mutations in single genes. At present, six genes have been established for the clinically classical form of parkinsonism including three autosomal dominantly (SNCA, LRRK2, VPS35) and three autosomal recessively inherited ones (Parkin, PINK1, DJ-1)...
March 13, 2017: Der Nervenarzt
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