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https://www.readbyqxmd.com/read/29458155/determining-risk-of-colorectal-cancer-and-starting-age-of-screening-based-on-lifestyle-environmental-and-genetic-factors
#1
Jihyoun Jeon, Mengmeng Du, Robert E Schoen, Michael Hoffmeister, Polly A Newcomb, Sonja I Berndt, Bette Caan, Peter T Campbell, Andrew T Chan, Jenny Chang-Claude, Graham G Giles, Jian Gong, Tabitha A Harrison, Jeroen R Huyghe, Eric J Jacobs, Li Li, Yi Lin, Loïc Le Marchand, John D Potter, Flora Qu, Stephanie A Bien, Niha Zubair, Robert J Macinnis, Daniel D Buchanan, John L Hopper, Yin Cao, Reiko Nishihara, Gad Rennert, Martha L Slattery, Duncan C Thomas, Michael O Woods, Ross L Prentice, Stephen B Gruber, Yingye Zheng, Hermann Brenner, Richard B Hayes, Emily White, Ulrike Peters, Li Hsu
BACKGROUND & AIMS: Guidelines for initiating colorectal cancer (CRC) screening are based on family history but do not consider lifestyle, environmental, or genetic risk factors. We developed models to determine risk of CRC, based on lifestyle and environmental factors and genetic variants, and to identify an optimal age to begin screening. METHODS: We collected data from 9748 CRC cases and 10,590 controls in the Genetics and Epidemiology of Colorectal Cancer Consortium and the Colorectal Transdisciplinary study, from 1992 through 2005...
February 16, 2018: Gastroenterology
https://www.readbyqxmd.com/read/29458119/the-function-of-hla-b-13-01-involved-in-the-pathomechanism-of-dapsone-induced-severe-cutaneous-adverse-reactions
#2
Wei-Ti Chen, Chuang-Wei Wang, Chun-Wei Lu, Chun-Bing Chen, Hua-En Lee, Shuen-Iu Hung, Siew-Eng Choon, Chih-Hsun Yang, Ming-Tsan Liu, Ting Jui Chen, Wen-Lang Fan, Shih-Chi Su, Yang Yu-Wei Lin, Ya-Ching Chang, Wen-Hung Chung
Dapsone-induced hypersensitivity reactions may cause severe cutaneous adverse reactions (SCAR), such as drug reaction with eosinophilia and systemic symptoms (DRESS). It has been reported that HLA-B*13:01 is strongly associated with dapsone-induced hypersensitivity reactions among leprosy patients. However, the phenotype specificity and detailed immune mechanism of HLA-B*13:01 remains unclear. We investigated the genetic predisposition, HLA-B*13:01 function, and cytotoxic T cells (CTLs) involved in pathogenesis of dapsone-SCAR...
February 16, 2018: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29457960/phylogenetic-relationships-and-acaricidal-effects-of-beauveria-bassiana-obtained-from-cattle-farm-soils-against-rhipicephalus-microplus
#3
Agustin Fernández-Salas, Miguel Angel Alonso Díaz, Rogelio Alejandro Alonso Morales, Roberto Lezama-Gutierrez, José Antonio Cervantes-Chávez
The objectives of the present study were to isolate Beauveria bassiana strains from cattle farms soils, to analyze the phylogenetic relationships among the isolated fungi strains, and to determine the acaricidal effect of B. bassiana isolates on Rhipicephalus microplus engorged ticks, resistant or susceptible to chemical acaricides. Six strains of Beauveria bassiana were obtained and isolated from cattle farms soils by Galleria bait method in Mexican tropics and the acaricidal effect was assessed against 2 populations of R...
February 19, 2018: Journal of Parasitology
https://www.readbyqxmd.com/read/29457906/optimized-phenotypic-biomarker-discovery-and-confounder-elimination-via-covariate-adjusted-projection-to-latent-structures-from-metabolic-spectroscopy-data
#4
Joram M Posma, Isabel Garcia-Perez, Timothy M D Ebbels, John C Lindon, Jeremiah Stamler, Paul Elliott, Elaine Holmes, Jeremy K Nicholson
Metabolism is altered by genetics, diet, disease status, environment and many other factors. Modelling either one of these is often done without considering the effects of the other covariates. Attributing differences in metabolic profile to one of these factors needs to be done while controlling for the metabolic influence of the rest. We describe here a data analysis framework and novel confounder-adjustment algorithm for multivariate analysis of metabolic profiling data. Using simulated data we show that similar numbers of true associations and significantly less false positives are found compared to other commonly used methods...
February 19, 2018: Journal of Proteome Research
https://www.readbyqxmd.com/read/29457840/population-pharmacokinetics-and-pharmacogenomics-of-apixaban-in-japanese-adult-patients-with-atrial-fibrillation
#5
Satoshi Ueshima, Daiki Hira, Yuuma Kimura, Ryo Fujii, Chiho Tomitsuka, Takuya Yamane, Yohei Tabuchi, Tomoya Ozawa, Hideki Itoh, Seiko Ohno, Minoru Horie, Tomohiro Terada, Toshiya Katsura
AIMS: This study aimed to analyse the effects of genetic polymorphisms in drug transporters and metabolising enzymes, and clinical laboratory data on the pharmacokinetic parameters of apixaban. METHODS: Data were collected from 81 Japanese patients with atrial fibrillation. Pharmacogenomic data were stratified by ABCB1, ABCG2, and CYP3A5 polymorphisms. The pharmacokinetic profile of apixaban was described by a one-compartment model with first-order absorption. Population pharmacokinetic analysis was conducted using non-linear mixed effect modelling (NONMEM™) program...
February 19, 2018: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/29457793/identifying-the-favored-mutation-in-a-positive-selective-sweep
#6
Ali Akbari, Joseph J Vitti, Arya Iranmehr, Mehrdad Bakhtiari, Pardis C Sabeti, Siavash Mirarab, Vineet Bafna
Most approaches that capture signatures of selective sweeps in population genomics data do not identify the specific mutation favored by selection. We present iSAFE (for "integrated selection of allele favored by evolution"), a method that enables researchers to accurately pinpoint the favored mutation in a large region (∼5 Mbp) by using a statistic derived solely from population genetics signals. iSAFE does not require knowledge of demography, the phenotype under selection, or functional annotations of mutations...
February 19, 2018: Nature Methods
https://www.readbyqxmd.com/read/29457631/non-invasive-genetic-censusing-and-monitoring-of-primate-populations
#7
REVIEW
Mimi Arandjelovic, Linda Vigilant
Knowing the density or abundance of primate populations is essential for their conservation management and contextualizing socio-demographic and behavioral observations. When direct counts of animals are not possible, genetic analysis of non-invasive samples collected from wildlife populations allows estimates of population size with higher accuracy and precision than is possible using indirect signs. Furthermore, in contrast to traditional indirect survey methods, prolonged or periodic genetic sampling across months or years enables inference of group membership, movement, dynamics, and some kin relationships...
February 19, 2018: American Journal of Primatology
https://www.readbyqxmd.com/read/29457536/heritabilities-and-genetic-trends-for-elbow-score-as-recorded-by-the-new-zealand-veterinary-association-elbow-dysplasia-scheme-1992-2013-in-four-breeds-of-dog
#8
M Soo, N Lopez-Villalobos, A J Worth
AIM: To estimate the heritability of the New Zealand Veterinary Association (NZVA) elbow phenotype, obtain estimated breeding values (EBV) for the worst-elbow score and estimate the genetic trends for this trait in four populous breeds of dogs, using the records from the NZVA Canine Elbow Dysplasia Scheme database (1992-2013). METHODS: Overall, 4,070 elbow records from a pedigree of 11,311 dogs were available for animals scored between 1992 and 2013. The worst elbow score between the left and right elbows was identified for each dog and used for EBV analysis...
February 18, 2018: New Zealand Veterinary Journal
https://www.readbyqxmd.com/read/29457329/the-companion-dog-as-a-model-for-human-aging-and-mortality
#9
Jessica M Hoffman, Kate E Creevy, Alexander Franks, Dan G O'Neill, Daniel E L Promislow
Around the world, human populations have experienced large increases in average lifespan over the last 150 years, and while individuals are living longer, they are spending more years of life with multiple chronic morbidities. Researchers have used numerous laboratory animal models to understand the biological and environmental factors that influence aging, morbidity, and longevity. However, the most commonly studied animal species, laboratory mice and rats, do not experience environmental conditions similar to those to which humans are exposed, nor do we often diagnose them with many of the naturally occurring pathologies seen in humans...
February 19, 2018: Aging Cell
https://www.readbyqxmd.com/read/29457312/update-on-tuberculosis-biomarkers-from-correlates-of-risk-to-correlates-of-active-disease-and-of-cure-from-disease
#10
REVIEW
Delia Goletti, Meng-Rui Lee, Jann-Yuan Wang, Nicholas Walter, Tom H M Ottenhoff
Tuberculosis (TB) remains a devastating disease, yet despite its enormous toll on global health, tools to control TB are insufficient and often outdated. TB Biomarkers (TB-BM) would constitute extremely useful tools to measure infection status and predict outcome of infection, vaccination or therapy. There are several types of TB-BM: Correlate of Infection; Correlate of TB Disease; Correlate of Increased Risk of Developing Active TB Disease; Correlate of the Curative Response to Therapy; and Correlate of Protection (CoP)...
February 18, 2018: Respirology: Official Journal of the Asian Pacific Society of Respirology
https://www.readbyqxmd.com/read/29457272/atopic-dermatitis-in-diverse-racial-and-ethnic-groups-variations-in-epidemiology-genetics-clinical-presentation-and-treatment
#11
REVIEW
Bridget P Kaufman, Emma Guttman-Yassky, Andrew F Alexis
Atopic dermatitis (AD) is a chronic inflammatory skin condition that affects diverse ethnic groups with varying prevalence. Despite a predominance of studies in individuals of European ancestry, AD has been found to occur more frequently in Asian and black individuals than whites. Therefore, an understanding of the unique clinical features of AD in diverse ethnic groups, as well as the differences in genetic polymorphisms that influence susceptibility to AD and response to current therapies, is paramount for management of an increasingly diverse patient population...
February 19, 2018: Experimental Dermatology
https://www.readbyqxmd.com/read/29457234/community-engagement-and-field-trials-of-genetically-modified-insects-and-animals
#12
Carolyn P Neuhaus
New techniques for the genetic modification of organisms are creating new strategies for addressing persistent public health challenges. For example, the company Oxitec has conducted field trials internationally-and has attempted to conduct field trials in the United States-of a genetically modified mosquito that can be used to control dengue, Zika, and some other mosquito-borne diseases. In 2016, a report commissioned by the National Academies of Sciences, Engineering, and Medicine discussed the potential benefits and risks of another strategy, using gene drives...
January 2018: Hastings Center Report
https://www.readbyqxmd.com/read/29457193/genome-shuffling-and-ribosome-engineering-of-streptomyces-virginiae-for-improved-virginiamycin-production
#13
Qian-Qian Tong, Yue-Hui Zhou, Xiang-Song Chen, Jin-Yong Wu, Ping Wei, Li-Xia Yuan, Jian-Ming Yao
The production of virginiamycin (VGM) from Streptomyces virginiae was improved by genome shuffling and ribosome engineering companied with a high-throughput screening method integrating deep-well cultivation and the cylinder-plate detecting. First, a novel high-throughput method was developed to rapidly screen large numbers of VGM-producing mutants. Then, the starting population of genome shuffling was obtained through ultraviolet (UV) and microwave mutagenesis, and four mutants with higher productivity of VGM were selected for genome shuffling...
February 19, 2018: Bioprocess and Biosystems Engineering
https://www.readbyqxmd.com/read/29457022/a-case-report-of-compound-heterozygous-cyp24a1-mutations-leading-to-nephrolithiasis-successfully-treated-with-ketoconazole
#14
Emma Davidson Peiris, Raghav Wusirika
CYP24A1 is an enzyme that inactivates vitamin D. Loss-of-function mutations in this enzyme are rare but have been linked with idiopathic infantile hypercalcemia as well as adult-onset nephrocalcinosis and nephrolithiasis. Genetic testing for this mutation should be considered in the presence of calciuria, elevated serum calcium, elevated 1,25-dihydroxyvitamin D, and suppressed parathyroid hormone. We present a case with these lab findings as well as an elevated 25-hydroxyvitamin D/24,25-dihydroxyvitamin D ratio in whom compound heterozygous CYP24A1 mutations were found...
September 2017: Case Reports in Nephrology and Dialysis
https://www.readbyqxmd.com/read/29456625/alignment-of-microbial-fitness-with-engineered-product-formation-obligatory-coupling-between-acetate-production-and-photoautotrophic-growth
#15
Wei Du, Joeri A Jongbloets, Coco van Boxtel, Hugo Pineda Hernández, David Lips, Brett G Oliver, Klaas J Hellingwerf, Filipe Branco Dos Santos
Background: Microbial bioengineering has the potential to become a key contributor to the future development of human society by providing sustainable, novel, and cost-effective production pipelines. However, the sustained productivity of genetically engineered strains is often a challenge, as spontaneous non-producing mutants tend to grow faster and take over the population. Novel strategies to prevent this issue of strain instability are urgently needed. Results: In this study, we propose a novel strategy applicable to all microbial production systems for which a genome-scale metabolic model is available that aligns the production of native metabolites to the formation of biomass...
2018: Biotechnology for Biofuels
https://www.readbyqxmd.com/read/29456621/men-seeking-counselling-in-a-breast-cancer-risk-evaluation-clinic
#16
Ana Catarina Freitas, Ana Opinião, Sofia Fragoso, Hugo Nunes, Madalena Santos, Ana Clara, Sandra Bento, Ana Luis, Jorge Silva, Cecília Moura, Bruno Filipe, Patrícia Machado, Sidónia Santos, Saudade André, Paula Rodrigues, Joana Parreira, Fátima Vaz
Background: Hereditary breast and ovary cancer syndrome affects both genders but little is known about the uptake of genetic services by men. The objective of this study is to characterise the male population counselled through a multidisciplinary breast/ovarian program. Methods: Descriptive analysis of male patients counselled from January 2000 to December 2015. Data in this analysis include new cancer diagnoses during prospective follow up. Results: From 4,320 families registered, 362 male patients were identified: 236 (65...
2018: Ecancermedicalscience
https://www.readbyqxmd.com/read/29456551/genetic-diversity-of-the-endangered-neotropical-cichlid-fish-gymnogeophagus-setequedas-in-brazil
#17
Lenice Souza-Shibatta, Thais Kotelok-Diniz, Dhiego G Ferreira, Oscar A Shibatta, Silvia H Sofia, Lucileine de Assumpção, Suelen F R Pini, Sergio Makrakis, Maristela C Makrakis
Gymnogeophagus setequedas is a rare and rheophilic species of tribe Geophagini, considered endangered in Brazilian red lists. Its previously known geographical distribution range was the Paraná River basin, in Paraguay, and a tributary of the Itaipu Reservoir in Brazil. Since its description no specimens have been collected in the original known distribution area. However, recent records of G. setequedas in the lower Iguaçu River, in a region considered highly endemic for the ichthyofauna, extended the known geographical distribution and may represent one of the last remnants of the species...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29456544/inheritance-of-mesotrione-resistance-in-an-amaranthus-tuberculatus-var-rudis-population-from-nebraska-usa
#18
Maxwel C Oliveira, Todd A Gaines, Amit J Jhala, Stevan Z Knezevic
A population of Amaranthus tuberculatus (var. rudis ) evolved resistance to 4-hydroxyphenylpyruvate dioxygenase (HPPD) inhibitor herbicides (mesotrione, tembotrione, and topramezone) in Nebraska. The level of resistance was the highest to mesotrione, and the mechanism of resistance in this population is metabolism-based likely via cytochrome P450 enzymes. The increasing number of weeds resistant to herbicides warrants studies on the ecology and evolutionary factors contributing for resistance evolution, including inheritance of resistance traits...
2018: Frontiers in Plant Science
https://www.readbyqxmd.com/read/29456537/understanding-progressive-multifocal-leukoencephalopathy-risk-in-multiple-sclerosis-patients-treated-with-immunomodulatory-therapies-a-bird-s-eye-view
#19
REVIEW
Elizabeth A Mills, Yang Mao-Draayer
The increased use of newer potent immunomodulatory therapies for multiple sclerosis (MS), including natalizumab, fingolimod, and dimethyl fumarate, has expanded the patient population at risk for developing progressive multifocal leukoencephalopathy (PML). These MS therapies shift the profile of lymphocytes within the central nervous system (CNS) leading to increased anti-inflammatory subsets and decreased immunosurveillance. Similar to MS, PML is a demyelinating disease of the CNS, but it is caused by the JC virus...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29456488/exploring-the-complexity-of-cortical-development-using-single-cell-transcriptomics
#20
REVIEW
Hyobin Jeong, Vijay K Tiwari
The developing neocortex in the mammalian brain is composed of multiple cell types including apical progenitors (AP), basal progenitors (BP), and neurons that populate three different layers, the ventricular zone (VZ), the subventricular zone (SVZ), and the cortical plate (CP). Despite recent advances, the diversity of the existing cell populations including those which are differentiating and mature, their biogenesis and the underlying gene regulatory mechanisms remain poorly known. Recent studies have taken advantage of the rapidly emerging single-cell technologies to decode the heterogeneity of cell populations at the transcriptome level during cortical development and their molecular details...
2018: Frontiers in Neuroscience
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