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genetic epidemiology

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https://www.readbyqxmd.com/read/29350180/genetic-characterization-of-three-mitochondrial-gene-sequences-of-goat-sheep-derived-coenurus-cerebralis-and-cysticercus-tenuicollis-isolates-in-inner-mongolia-china
#1
Yichi Zhang, Wei Zhao, Di Yang, Yuan Tian, Weizhe Zhang, Aiqin Liu
Taenia multiceps and Taenia hydatigena are widely distributed tapeworms of canids. Due to a lack of genetic information on these two parasites in China, in this study we analyzed six coenurus cerebralis and two cysticercus tenuicollis cysts from goats or sheep in Inner Mongolia, northern China by amplifying three mitochondrial genes (cox1, nad4, and cytb). Two haplotypes were obtained at each locus for either of the two Taenia cestode species, with ten nucleotide sequences being novel. The degrees of genetic variations were 1...
2018: Parasite: Journal de la Société Française de Parasitologie
https://www.readbyqxmd.com/read/29350142/lethal-respiratory-disease-associated-with-human-rhinovirus%C3%A2-c-in-wild-chimpanzees-uganda-2013
#2
Erik J Scully, Sarmi Basnet, Richard W Wrangham, Martin N Muller, Emily Otali, David Hyeroba, Kristine A Grindle, Tressa E Pappas, Melissa Emery Thompson, Zarin Machanda, Kelly E Watters, Ann C Palmenberg, James E Gern, Tony L Goldberg
We describe a lethal respiratory outbreak among wild chimpanzees in Uganda in 2013 for which molecular and epidemiologic analyses implicate human rhinovirus C as the cause. Postmortem samples from an infant chimpanzee yielded near-complete genome sequences throughout the respiratory tract; other pathogens were absent. Epidemiologic modeling estimated the basic reproductive number (R0) for the epidemic as 1.83, consistent with the common cold in humans. Genotyping of 41 chimpanzees and examination of 24 published chimpanzee genomes from subspecies across Africa showed universal homozygosity for the cadherin-related family member 3 CDHR3-Y529 allele, which increases risk for rhinovirus C infection and asthma in human children...
February 2018: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/29350137/multiplex-pcr-based-next-generation-sequencing-and-global-diversity-of-seoul-virus-in-humans-and-rats
#3
Won-Keun Kim, Jin Sun No, Seung-Ho Lee, Dong Hyun Song, Daesang Lee, Jeong-Ah Kim, Se Hun Gu, Sunhye Park, Seong Tae Jeong, Heung-Chul Kim, Terry A Klein, Michael R Wiley, Gustavo Palacios, Jin-Won Song
Seoul virus (SEOV) poses a worldwide public health threat. This virus, which is harbored by Rattus norvegicus and R. rattus rats, is the causative agent of hemorrhagic fever with renal syndrome (HFRS) in humans, which has been reported in Asia, Europe, the Americas, and Africa. Defining SEOV genome sequences plays a critical role in development of preventive and therapeutic strategies against the unique worldwide hantavirus. We applied multiplex PCR-based next-generation sequencing to obtain SEOV genome sequences from clinical and reservoir host specimens...
February 2018: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/29348612/gwas-in-childhood-acute-lymphoblastic-leukemia-reveals-novel-genetic-associations-at-chromosomes-17q12-and-8q24-21
#4
Joseph L Wiemels, Kyle M Walsh, Adam J de Smith, Catherine Metayer, Semira Gonseth, Helen M Hansen, Stephen S Francis, Juhi Ojha, Ivan Smirnov, Lisa Barcellos, Xiaorong Xiao, Libby Morimoto, Roberta McKean-Cowdin, Rong Wang, Herbert Yu, Josephine Hoh, Andrew T DeWan, Xiaomei Ma
Childhood acute lymphoblastic leukemia (ALL) (age 0-14 years) is 20% more common in Latino Americans than non-Latino whites. We conduct a genome-wide association study in a large sample of 3263 Californian children with ALL (including 1949 of Latino heritage) and 3506 controls matched on month and year of birth, sex, and ethnicity, and an additional 12,471 controls from the Kaiser Resource for Genetic Epidemiology Research on Aging Cohort. Replication of the strongest genetic associations is performed in two independent datasets from the Children's Oncology Group and the California Childhood Leukemia Study...
January 18, 2018: Nature Communications
https://www.readbyqxmd.com/read/29348111/leveraging-social-networking-sites-for-an-autoimmune-hepatitis-genetic-repository-pilot-study-to-evaluate-feasibility
#5
Megan Comerford, Rachel Fogel, James Robert Bailey, Prianka Chilukuri, Naga Chalasani, Craig Steven Lammert
BACKGROUND: Conventional approaches to participant recruitment are often inadequate in rare disease investigation. Social networking sites such as Facebook may provide a vehicle to circumvent common research limitations and pitfalls. We report our preliminary experience with Facebook-based methodology for participant recruitment and participation into an ongoing study of autoimmune hepatitis (AIH). OBJECTIVE: The goal of our research was to conduct a pilot study to assess whether a Facebook-based methodology is capable of recruiting geographically widespread participants into AIH patient-oriented research and obtaining quality phenotypic data...
January 18, 2018: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/29346413/genetic-diversity-and-potential-routes-of-transmission-of-mycobacterium-bovis-in-mozambique
#6
Adelina Machado, Teresa Rito, Solomon Ghebremichael, Nuelma Muhate, Gabriel Maxhuza, Custodia Macuamule, Ivania Moiane, Baltazar Macucule, Angelica Suzana Marranangumbe, Jorge Baptista, Joaquim Manguele, Tuija Koivula, Elizabeth Maria Streicher, Robin Mark Warren, Gunilla Kallenius, Paul van Helden, Margarida Correia-Neves
Bovine tuberculosis is a zoonotic disease with largely unknown impact in Africa, with risk factors such as HIV and direct contact with animals or consumption of Mycobacterium bovis infected animal products. In order to understand and quantify this risk and design intervention strategies, good epidemiological studies are needed. Such studies can include molecular typing of M. bovis isolates. The aim of this study was to apply these tools to provide novel information concerning the distribution of bovine tuberculosis in cattle in Mozambique and thereby provide relevant information to guide policy development and strategies to contain the disease in livestock, and reduce the risk associated with transmission to humans...
January 2018: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29346142/neonatal-abstinence-syndrome-an-update
#7
Lauren A Sanlorenzo, Ann R Stark, Stephen W Patrick
PURPOSE OF REVIEW: The current review provides an update focused on the evolving epidemiology of neonatal abstinence syndrome (NAS), factors influencing disease expression, advances in clinical assessment of withdrawal, novel approaches to NAS treatment, and the emerging role of quality improvement in assessment and management of NAS. RECENT FINDINGS: The rise in the incidence of NAS disproportionately occurred in rural and suburban areas. Polysubstance exposure and genetic polymorphisms have been shown to modify NAS expression and severity...
January 17, 2018: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/29345684/msh6-and-pms2-germ-line-pathogenic-variants-implicated-in-lynch-syndrome-are-associated-with-breast-cancer
#8
Maegan E Roberts, Sarah A Jackson, Lisa R Susswein, Nur Zeinomar, Xinran Ma, Megan L Marshall, Amy R Stettner, Becky Milewski, Zhixiong Xu, Benjamin D Solomon, Mary Beth Terry, Kathleen S Hruska, Rachel T Klein, Wendy K Chung
PurposeAn association of Lynch syndrome (LS) with breast cancer has been long suspected; however, there have been insufficient data to address this question for each of the LS genes individually.MethodsWe conducted a retrospective review of personal and family history in 423 women with pathogenic or likely pathogenic germ-line variants in MLH1 (N = 65), MSH2 (N = 94), MSH6 (N = 140), or PMS2 (N = 124) identified via clinical multigene hereditary cancer testing. Standard incidence ratios (SIRs) of breast cancer were calculated by comparing breast cancer frequencies in our study population with those in the general population (Surveillance, Epidemiology, and End Results 18 data)...
January 18, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29345008/current-knowledge-of-risk-factors-for-testicular-germ-cell-tumors
#9
REVIEW
Tomoya Fukawa, Hiro-Omi Kanayama
The development of the human gonads is tightly regulated by the correct sequential expression of many genes and hormonal activity. Disturbance of this regulation does not only prevent proper development of the gonads, but it also contributes to the development of testicular germ cell tumors. Recent genetic studies, especially genome-wide association studies, have made great progress in understanding genetic susceptibility. Although there is strong evidence of inherited risks, many environmental factors also contribute to the development of testicular germ cell tumors...
January 17, 2018: International Journal of Urology: Official Journal of the Japanese Urological Association
https://www.readbyqxmd.com/read/29342165/increased-colon-cancer-risk-after-severe-salmonella-infection
#10
Lapo Mughini-Gras, Michael Schaapveld, Jolanda Kramers, Sofie Mooij, E Andra Neefjes-Borst, Wilfrid van Pelt, Jacques Neefjes
BACKGROUND: Colon cancer constitutes one of the most frequent malignancies. Previous studies showed that Salmonella manipulates host cell signaling pathways and that Salmonella Typhimurium infection facilitates colon cancer development in genetically predisposed mice. This epidemiological study examined whether severe Salmonella infection, usually acquired from contaminated food, is associated with increased colon cancer risk in humans. METHODS AND FINDINGS: We performed a nationwide registry-based study to assess colon cancer risk after diagnosed Salmonella infection...
2018: PloS One
https://www.readbyqxmd.com/read/29340618/mitochondrial-toxicity
#11
Joel N Meyer, Jessica H Hartman, Danielle F Mello
Recent decades have seen a rapid increase in reported toxic effects of drugs and pollutants on mitochondria. Researchers have also documented many genetic differences leading to mitochondrial diseases, currently reported to affect ∼1 person in 4,300, creating a large number of potential gene-environment interactions in mitochondrial toxicity. We briefly review this history, and then highlight cutting-edge areas of mitochondrial research including the role of mitochondrial reactive oxygen species in signaling; increased understanding of fundamental biological processes involved in mitochondrial homeostasis (DNA maintenance and mutagenesis, mitochondrial stress response pathways, fusion and fission, autophagy and biogenesis, and exocytosis); systemic effects resulting from mitochondrial stresses in specific cell types; mitochondrial involvement in immune function; the growing evidence of long-term effects of mitochondrial toxicity; mitochondrial-epigenetic cross-talk; and newer approaches to test chemicals for mitochondrial toxicity...
January 11, 2018: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/29339473/identification-of-thioredoxin-interacting-protein-txnip-as-a-downstream-target-for-igf1-action
#12
Karthik Nagaraj, Lena Lapkina-Gendler, Rive Sarfstein, David Gurwitz, Metsada Pasmanik-Chor, Zvi Laron, Shoshana Yakar, Haim Werner
Laron syndrome (LS), or primary growth hormone (GH) insensitivity, is the best-characterized entity among the congenital insulin-like growth factor 1 (IGF1) deficiencies. Life-long exposure to minute endogenous IGF1 levels is linked to low stature as well as a number of endocrine and metabolic abnormalities. While elevated IGF1 is correlated with increased cancer incidence, epidemiological studies revealed that patients with LS do not develop tumors. The mechanisms associated with cancer protection in LS are yet to be discovered...
January 16, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29338592/whole-genome-sequencing-characterization-of-bloodstream-infection-causing-hypervirulent-klebsiella-pneumoniae-of-capsular-serotype-k2-and-st374
#13
Xiaoli Wang, Yingzhou Xie, Gang Li, Jialin Liu, Xiaobin Li, Lijun Tian, Jingyong Sun, Hong-Yu Ou, Hongping Qu
Hypervirulent K. pneumoniae variants (hvKP) have been increasingly reported worldwide, causing metastasis of severe infections such as liver abscesses and bacteremia. The capsular serotype K2 hvKP strains show diverse multi-locus sequence types (MLSTs), but with limited genetics and virulence information. In this study, we report a hypermucoviscous K. pneumoniae strain, RJF293, isolated from a human bloodstream sample in a Chinese hospital. It caused a metastatic infection and fatal septic shock in a critical patient...
January 17, 2018: Virulence
https://www.readbyqxmd.com/read/29338330/joint-influence-of-snps-and-dna-methylation-on-lipids-in-african-americans-from-hypertensive-sibships
#14
Michelle L Wright, Erin B Ware, Jennifer A Smith, Sharon L R Kardia, Jacquelyn Y Taylor
INTRODUCTION: Plasma concentrations of lipids (i.e., total cholesterol, high-density cholesterol, low-density cholesterol, and triglycerides) are amenable to therapeutic intervention and remain important factors for assessing risk of cardiovascular diseases. Some of the observed variability in serum lipid concentrations has been associated with genetic and epigenetic variants among cohorts with European ancestry (EA). Serum lipid levels have also been associated with genetic variants in multiethnic populations...
January 1, 2018: Biological Research for Nursing
https://www.readbyqxmd.com/read/29337135/defining-bedaquiline-susceptibility-resistance-cross-resistance-and-associated-genetic-determinants-a-retrospective-cohort-study
#15
Nazir A Ismail, Shaheed V Omar, Lavania Joseph, Netricia Govender, Linsay Blows, Farzana Ismail, Hendrik Koornhof, Andries W Dreyer, Koné Kaniga, Norbert Ndjeka
BACKGROUND: Bedaquiline (BDQ) is a novel agent approved for use in combination treatment of multi-drug resistant tuberculosis (MDR-TB). We sought to determine BDQ epidemiological cut-off values (ECVs), define and assess interpretive criteria against putative resistance associated variants (RAVs), microbiological outcomes and cross resistance with clofazimine (CFZ). METHODS: A retrospective cohort study was conducted. Minimal inhibitory concentrations (MIC) to BDQ were determined using 7H9 broth microdilution (BMD) and MGIT960...
January 9, 2018: EBioMedicine
https://www.readbyqxmd.com/read/29335829/pancreaticoduodenectomy-for-periampullary-tumours-a-review-article-based-on-surveillance-end-results-and-epidemiology-seer-database
#16
REVIEW
S K Kamarajah
INTRODUCTION: This study set to examine relative survival of patients with periampullary cancers undergoing pancreaticoduodenectomy (PD). METHODS: Using the Surveillance, End Results and Epidemiology (SEER) database, this study identified 9877 patients with non-metastatic pancreatic adenocarcinoma who underwent PD between 2004 and 2013. RESULTS: Ampullary carcinomas have the best survival among periampullary malignancies. Lymph node ratio is a significant prognostic factor, even when stratified by tumour types...
January 15, 2018: Clinical & Translational Oncology
https://www.readbyqxmd.com/read/29334710/-a-study-on-genotype-of-271-mycobacterium-tuberculosis-isolates-in-6-prefectures-in-yunnan-province
#17
L Y Chen, X Yang, H H Ru, H J Yang, S Q Yan, L Ma, J O Chen, R Yang, L Xu
Objective: To understand the characteristics of genotypes of Mycobacterium tuberculosis isolates in Yunnan province, and provide the molecular epidemiological evidence for prevention and control of tuberculosis in Yunnan Province. Methods: Mycobacterium Tuberculosis isolates were collected from 6 prefectures of Yunnan province in 2014 and their Genetypes of Mycobacterium tuberculosis isolates were obtained using spoligotyping and multiple locus variable numbers of tandem repeats analysis (MLVA). The results of spoligotyping were entered into the SITVITWEB database to obtain the Spoligotyping International Type (SIT) patterns and the sublineages of MTB isolates...
January 6, 2018: Zhonghua Yu Fang Yi Xue za Zhi [Chinese Journal of Preventive Medicine]
https://www.readbyqxmd.com/read/29334416/investigating-causal-associations-between-use-of-nicotine-alcohol-caffeine-and-cannabis-a-two-sample-bidirectional-mendelian-randomization-study
#18
Karin J H Verweij, Jorien L Treur, Jacqueline M Vink
BACKGROUND AND AIMS: Epidemiological studies consistently show co-occurrence of use of different addictive substances. Whether these associations are causal or due to overlapping underlying influences remains an important question in addiction research. Methodological advances have made it possible to use published genetic associations to infer causal relationships between phenotypes. In this exploratory study, we used Mendelian randomization (MR) to examine the causality of well-established associations between nicotine, alcohol, caffeine, and cannabis use...
January 15, 2018: Addiction
https://www.readbyqxmd.com/read/29334143/childhood-alopecia-areata-data-from-the-national-alopecia-areata-registry
#19
Iris Wohlmuth-Wieser, Joyce S Osei, David Norris, Vera Price, Maria K Hordinsky, Angela Christiano, Madeleine Duvic
BACKGROUND/OBJECTIVES: Alopecia areata may occur at any age and is the third-most-common dermatosis in children. The objective of this study was to investigate the clinical and epidemiologic features of children and adolescents with alopecia areata based on the data of the National Alopecia Areata registry on children and adolescents. METHODS: Two thousand two hundred eighteen children and adolescents with alopecia areata self-enrolled in the National Alopecia Areata Registry and completed a web-based, self-administered, short-intake screening questionnaire (first tier)...
January 15, 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29334044/gene-environment-interplay-in-the-etiology-of-psychosis
#20
Alyson Zwicker, Eileen M Denovan-Wright, Rudolf Uher
Schizophrenia and other types of psychosis incur suffering, high health care costs and loss of human potential, due to the combination of early onset and poor response to treatment. Our ability to prevent or cure psychosis depends on knowledge of causal mechanisms. Molecular genetic studies show that thousands of common and rare variants contribute to the genetic risk for psychosis. Epidemiological studies have identified many environmental factors associated with increased risk of psychosis. However, no single genetic or environmental factor is sufficient to cause psychosis on its own...
January 15, 2018: Psychological Medicine
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