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https://www.readbyqxmd.com/read/30401457/fut2-variants-confer-susceptibility-to-familial-otitis-media
#1
Regie Lyn P Santos-Cortez, Charlotte M Chiong, Daniel N Frank, Allen F Ryan, Arnaud P J Giese, Tori Bootpetch Roberts, Kathleen A Daly, Matthew J Steritz, Wasyl Szeremeta, Melquiadesa Pedro, Harold Pine, Talitha Karisse L Yarza, Melissa A Scholes, Erasmo Gonzalo D V Llanes, Saira Yousaf, Norman Friedman, Ma Leah C Tantoco, Todd M Wine, Patrick John Labra, Jeanne Benoit, Amanda G Ruiz, Rhodieleen Anne R de la Cruz, Christopher Greenlee, Ayesha Yousaf, Jonathan Cardwell, Rachelle Marie A Nonato, Dylan Ray, Kimberly Mae C Ong, Edward So, Charles E Robertson, Jordyn Dinwiddie, Sheryl Mae Lagrana-Villagracia, Samuel P Gubbels, Rehan S Shaikh, Stephen P Cass, Elisabet Einarsdottir, Nanette R Lee, David A Schwartz, Teresa Luisa I Gloria-Cruz, Michael J Bamshad, Ivana V Yang, Juha Kere, Generoso T Abes, Jeremy D Prager, Saima Riazuddin, Abner L Chan, Patricia J Yoon, Deborah A Nickerson, Eva Maria Cutiongco-de la Paz, Sven-Olrik Streubel, Maria Rina T Reyes-Quintos, Herman A Jenkins, Petri Mattila, Kenny H Chan, Karen L Mohlke, Suzanne M Leal, Lena Hafrén, Tasnee Chonmaitree, Michele M Sale, Zubair M Ahmed
Non-secretor status due to homozygosity for the common FUT2 variant c.461G>A (p.Trp154∗ ) is associated with either risk for autoimmune diseases or protection against viral diarrhea and HIV. We determined the role of FUT2 in otitis media susceptibility by obtaining DNA samples from 609 multi-ethnic families and simplex case subjects with otitis media. Exome and Sanger sequencing, linkage analysis, and Fisher exact and transmission disequilibrium tests (TDT) were performed. The common FUT2 c.604C>T (p...
November 1, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/30391774/contingency-management-and-cognitive-behavioral-therapy-for-trauma-exposed-smokers-with-and-without-posttraumatic-stress-disorder
#2
Sandra J Japuntich, Lewina O Lee, Suzanne L Pineles, Kristin Gregor, Celina M Joos, Samantha C Patton, Suchitra Krishnan-Sarin, Ann M Rasmusson
INTRODUCTION: Trauma-exposed individuals with and without posttraumatic stress disorder (PTSD) are more likely to smoke and less successful in quit attempts than individuals without psychopathology. Contingency management (CM) techniques (i.e., incentives for abstinence) have demonstrable efficacy for smoking cessation in some populations with psychopathology, but have not been well tested in PTSD. This pilot study examined the feasibility of CM plus brief cognitive behavioral therapy (CBT) in promoting smoking cessation among trauma-exposed individuals with and without PTSD...
October 29, 2018: Addictive Behaviors
https://www.readbyqxmd.com/read/30390709/variation-in-tmem106b-in-chronic-traumatic-encephalopathy
#3
Jonathan D Cherry, Jesse Mez, John F Crary, Yorghos Tripodis, Victor E Alvarez, Ian Mahar, Bertrand R Huber, Michael L Alosco, Raymond Nicks, Bobak Abdolmohammadi, Patrick T Kiernan, Laney Evers, Sarah Svirsky, Katharine Babcock, Hannah M Gardner, Gaoyuan Meng, Christopher J Nowinski, Brett M Martin, Brigid Dwyer, Neil W Kowall, Robert C Cantu, Lee E Goldstein, Douglas I Katz, Robert A Stern, Lindsay A Farrer, Ann C McKee, Thor D Stein
The genetic basis of chronic traumatic encephalopathy (CTE) is poorly understood. Variation in transmembrane protein 106B (TMEM106B) has been associated with enhanced neuroinflammation during aging and with TDP-43-related neurodegenerative disease, and rs3173615, a missense coding SNP in TMEM106B, has been implicated as a functional variant in these processes. Neuroinflammation and TDP-43 pathology are prominent features in CTE. The purpose of this study was to determine whether genetic variation in TMEM106B is associated with CTE risk, pathological features, and ante-mortem dementia...
November 4, 2018: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/30383288/vitamin-and-mineral-supplementation-for-preventing-dementia-or-delaying-cognitive-decline-in-people-with-mild-cognitive-impairment
#4
REVIEW
Jenny McCleery, Rajesh P Abraham, David A Denton, Anne Ws Rutjes, Lee-Yee Chong, Aalya S Al-Assaf, Daniel J Griffith, Shireen Rafeeq, Hakan Yaman, Muzaffar A Malik, Marcello Di Nisio, Gabriel Martínez, Robin Wm Vernooij, Naji Tabet
BACKGROUND: Vitamins and minerals have many functions in the nervous system which are important for brain health. It has been suggested that various different vitamin and mineral supplements might be useful in maintaining cognitive function and delaying the onset of dementia. In this review, we sought to examine the evidence for this in people who already had mild cognitive impairment (MCI). OBJECTIVES: To evaluate the effects of vitamin and mineral supplementation on cognitive function and the incidence of dementia in people with mild cognitive impairment...
November 1, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/30372044/mapping-forbidden-emission-to-structure-in-self-assembled-organic-nanoparticles
#5
Daniel A Hinton, James D Ng, Jian Sun, Stephen Lee, Semion K Saikin, Jenna Logsdon, David S White, Angela N Marquard, Andrew C Cavell, Veronica K Krasecki, Kassandra A Knapper, Katherine M Lupo, Michael R Wasielewski, Alán Aspuru-Guzik, Julie S Biteen, Padma Gopalan, Randall H Goldsmith
The interplay between micromorphology and electronic properties is an important theme in organic electronic materials. Here, we show that a spirofluorene-functionalized boron-dipyrromethene (BODIPY) with an alkyl norbornyl tail self-assembles into nanoparticles with qualitatively different properties as compared to the polymerized species. Further, the nanoparticles exhibit a host of unique emissive properties, including photobrightening, a blue satellite peak, and spectral diffusion. Extensive photophysical characterization, including single-particle imaging and spectroscopy, and time-resolved fluorescence, coupled with electronic structure calculations based on an experimentally determined crystal structure, allow a mechanism to be developed...
November 8, 2018: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/30371214/measurement-of-low-density-lipoprotein-cholesterol-levels-in-primary-and-secondary-prevention-patients-insights-from-the-palm-registry
#6
Angela M Lowenstern, Shuang Li, Ann Marie Navar, Veronique L Roger, Jennifer G Robinson, Anne C Goldberg, Salim S Virani, L Veronica Lee, Peter W F Wilson, Michael J Louie, Eric D Peterson, Tracy Y Wang
Background The 2013 American College of Cardiology/American Heart Association Guideline on the Treatment of Blood Cholesterol to Reduce Atherosclerotic Cardiovascular Risk in Adults recommended testing low-density lipoprotein cholesterol ( LDL -C) to identify untreated patients with LDL -C ≥190 mg/dL, assess lipid-lowering therapy adherence, and consider nonstatin therapy. We sought to determine whether clinician lipid testing practices were consistent with these guidelines. Methods and Results The PALM (Patient and Provider Assessment of Lipid Management) registry enrolled primary and secondary prevention patients from 140 US cardiology, endocrinology, and primary care offices in 2015 and captured demographic data, lipid treatment history, and the highest LDL -C level in the past 2 years...
September 18, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/30367196/the-arthroscopic-syndesmotic-assessment-tool-can-differentiate-between-stable-and-unstable-ankle-syndesmoses
#7
Bart Lubberts, Daniel Guss, Bryan G Vopat, Anne H Johnson, C Niek van Dijk, Hang Lee, Christopher W DiGiovanni
PURPOSE: Patients with stable isolated injuries of the ankle syndesmosis can be treated conservatively, while unstable injuries require surgical stabilisation. Although evaluating syndesmotic injuries using ankle arthroscopy is becoming more popular, differentiating between stable and unstable syndesmoses remains a topic of on-going debate in the current literature. The purpose of this study was to quantify the degree of displacement of the ankle syndesmosis using arthroscopic measurements...
October 26, 2018: Knee Surgery, Sports Traumatology, Arthroscopy: Official Journal of the ESSKA
https://www.readbyqxmd.com/read/30363711/diagnostic-interpretation-guidance-for-pediatric-enteric-pathogens-a-modified-delphi-consensus-process
#8
Antonia S Stang, Melanie Trudeau, Otto G Vanderkooi, Bonita E Lee, Linda Chui, Xiao-Li Pang, Vanessa Allen, Carey-Ann D Burnham, David M Goldfarb, Judy MacDonald, Brendon Parsons, Astrid Petrich, Frank Pollari, Phillip I Tarr, Graham Tipples, Ran Zhuo, Stephen B Freedman
Background: We sought to develop diagnostic test guidance definitions for pediatric enteric infections to facilitate the interpretation of positive test results in the era of multianalyte molecular diagnostic test platforms. Methods: We employed a systematic, two-phase, modified Delphi consensus process consisting of three web-based surveys and an expert panel face-to-face meeting. In phase 1, we surveyed an advisory panel of North American experts to select pathogens requiring diagnostic test guidance definition development...
2018: Canadian Journal of Infectious Diseases & Medical Microbiology
https://www.readbyqxmd.com/read/30361406/qualitative-study-to-explore-the-views-of-general-practice-staff-on-the-use-of-point-of-care-c-reactive-protein-testing-for-the-management-of-lower-respiratory-tract-infections-in-routine-general-practice-in-england
#9
Charlotte Victoria Eley, Anita Sharma, Donna Marie Lecky, Hazel Lee, Cliodna Ann Miriam McNulty
OBJECTIVES: To explore the knowledge, skills, attitudes and beliefs of general practice staff about C reactive protein (CRP) point-of-care tests (POCTs) in routine general practice and associated barriers and facilitators to implementing it to improve the management of acute cough. DESIGN: A qualitative methodology including interviews and focus groups using the Com-B framework to understand individuals' behaviour to implement CRP POCT in routine general practice...
October 24, 2018: BMJ Open
https://www.readbyqxmd.com/read/30359400/morphology-and-life-history-divergence-in-cave-and-surface-populations-of-gammarus-lacustris-l
#10
Kjartan Østbye, Eivind Østbye, Anne May Lien, Laura R Lee, Stein-Erik Lauritzen, David B Carlini
Cave animals provide a unique opportunity to study contrasts in phenotype and life history in strikingly different environments when compared to surface populations, potentially related to natural selection. As such, we compared a permanent cave-living Gammarus lacustris (L.) population with two lake-resident surface populations analyzing morphology (eye- and antennal characters) and life-history (size at maturity, fecundity and egg-size). A part of the cytochrome c oxidase subunit I gene in the mitochondrion (COI) was analyzed to contrast genetic relationship of populations and was compared to sequences in GenBank to assess phylogeography and colonization scenarios...
2018: PloS One
https://www.readbyqxmd.com/read/30352628/transient-o-2-pulses-direct-fe-crystallinity-and-fe-iii-reducer-gene-expression-within-a-soil-microbiome
#11
Jared Lee Wilmoth, Mary Ann Moran, Aaron Thompson
BACKGROUND: Many environments contain redox transition zones, where transient oxygenation events can modulate anaerobic reactions that influence the cycling of iron (Fe) and carbon (C) on a global scale. In predominantly anoxic soils, this biogeochemical cycling depends on Fe mineral composition and the activity of mixed Fe(III)-reducer populations that may be altered by periodic pulses of molecular oxygen (O2 ). METHODS: We repeatedly exposed anoxic (4% H2 :96% N2 ) suspensions of soil from the Luquillo Critical Zone Observatory to 1...
October 23, 2018: Microbiome
https://www.readbyqxmd.com/read/30349862/phenotypic-expansion-in-ddx3x-a-common-cause-of-intellectual-disability-in-females
#12
Xia Wang, Jennifer E Posey, Jill A Rosenfeld, Carlos A Bacino, Fernando Scaglia, LaDonna Immken, Jill M Harris, Scott E Hickey, Theresa M Mosher, Anne Slavotinek, Jing Zhang, Joke Beuten, Magalie S Leduc, Weimin He, Francesco Vetrini, Magdalena A Walkiewicz, Weimin Bi, Rui Xiao, Pengfei Liu, Yunru Shao, Alper Gezdirici, Elif Y Gulec, Yunyun Jiang, Sandra A Darilek, Adam W Hansen, Michael M Khayat, Davut Pehlivan, Juliette Piard, Donna M Muzny, Neil Hanchard, John W Belmont, Lionel Van Maldergem, Richard A Gibbs, Mohammad K Eldomery, Zeynep C Akdemir, Adekunle M Adesina, Shan Chen, Yi-Chien Lee, Brendan Lee, James R Lupski, Christine M Eng, Fan Xia, Yaping Yang, Brett H Graham, Paolo Moretti
De novo variants in DDX3X account for 1-3% of unexplained intellectual disability (ID) cases and are amongst the most common causes of ID especially in females. Forty-seven patients (44 females, 3 males) have been described. We identified 31 additional individuals carrying 29 unique DDX3X variants, including 30 postnatal individuals with complex clinical presentations of developmental delay or ID, and one fetus with abnormal ultrasound findings. Rare or novel phenotypes observed include respiratory problems, congenital heart disease, skeletal muscle mitochondrial DNA depletion, and late-onset neurologic decline...
October 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/30349098/the-arid1b-spectrum-in-143-patients-from-nonsyndromic-intellectual-disability-to-coffin-siris-syndrome
#13
Eline P J van der Sluijs, Sandra Jansen, Samantha A Vergano, Miho Adachi-Fukuda, Yasemin Alanay, Adila AlKindy, Anwar Baban, Allan Bayat, Stefanie Beck-Wödl, Katherine Berry, Emilia K Bijlsma, Levinus A Bok, Alwin F J Brouwer, Ineke van der Burgt, Philippe M Campeau, Natalie Canham, Krystyna Chrzanowska, Yoyo W Y Chu, Brain H Y Chung, Karin Dahan, Marjan De Rademaeker, Anne Destree, Tracy Dudding-Byth, Rachel Earl, Nursel Elcioglu, Ellen R Elias, Christina Fagerberg, Alice Gardham, Blanca Gener, Erica H Gerkes, Ute Grasshoff, Arie van Haeringen, Karin R Heitink, Johanna C Herkert, Nicolette S den Hollander, Denise Horn, David Hunt, Sarina G Kant, Mitsuhiro Kato, Hülya Kayserili, Rogier Kersseboom, Esra Kilic, Malgorzata Krajewska-Walasek, Kylin Lammers, Lone W Laulund, Damien Lederer, Melissa Lees, Vanesa López-González, Saskia Maas, Grazia M S Mancini, Carlo Marcelis, Francisco Martinez, Isabelle Maystadt, Marianne McGuire, Shane McKee, Sarju Mehta, Kay Metcalfe, Jeff Milunsky, Seiji Mizuno, John B Moeschler, Christian Netzer, Charlotte W Ockeloen, Barbara Oehl-Jaschkowitz, Nobuhiko Okamoto, Sharon N M Olminkhof, Carmen Orellana, Laurent Pasquier, Caroline Pottinger, Vera Riehmer, Stephen P Robertson, Maian Roifman, Caroline Rooryck, Fabienne G Ropers, Monica Rosello, Claudia A L Ruivenkamp, Mahmut S Sagiroglu, Suzanne C E H Sallevelt, Amparo Sanchis Calvo, Pelin O Simsek-Kiper, Gabriela Soares, Lucia Solaeche, Fatma Mujgan Sonmez, Miranda Splitt, Duco Steenbeek, Alexander P A Stegmann, Constance T R M Stumpel, Saori Tanabe, Eyyup Uctepe, G Eda Utine, Hermine E Veenstra-Knol, Sunita Venkateswaran, Catheline Vilain, Catherine Vincent-Delorme, Anneke T Vulto-van Silfhout, Patricia Wheeler, Golder N Wilson, Louise C Wilson, Bernd Wollnik, Tomoki Kosho, Dagmar Wieczorek, Evan Eichler, Rolph Pfundt, Bert B A de Vries, Jill Clayton-Smith, Gijs W E Santen
PURPOSE: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin-Siris patients (ARID1B-CSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS...
October 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30346023/prevalence-of-and-risk-factors-for-abnormal-vaginal-flora-and-its-association-with-adverse-pregnancy-outcomes-in-a-rural-district-in-north-east-bangladesh
#14
Abdullah H Baqui, Anne Cc Lee, Alain K Koffi, Rasheda Khanam, Dipak K Mitra, Sushil Kanta Dasgupta, Jamal Uddin, Parvez Ahmed, Iftekhar Rafiqullah, Mahmoodur Rahman, Abdul Quaiyum, Emilia H Koumans, Parul Christian, Samir K Saha, Luke C Mullany, Alain Labrique
INTRODUCTION: The role of screening and treatment for abnormal vaginal flora (AVF) on adverse pregnancy outcomes remains unclear. Using data from women who participated in a population-based cluster randomized trial who were screened and treated for AVF, we report risk factors for AVF and association of persistent AVF with adverse perinatal outcomes. MATERIAL AND METHODS: Pregnant women (n=4,221) <19 weeks of gestation provided self-administered mid-vaginal swabs; smears were Nugent scored...
October 22, 2018: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/30323984/health-sector-reform-in-the-kurdistan-region-iraq-primary-care-management-information-system-physician-dual-practice-finance-reform-and-quality-of-care-training
#15
C Ross Anthony, Melinda Moore, Lee H Hilborne, Anne Rooney, Scot Hickey, Youngbok Ryu, Laura Botwinick
Since 2010, the RAND Corporation has worked with the Ministry of Health and Ministry of Planning of the Kurdistan Regional Government to develop and implement initiatives for improving the region's health care system through analysis, planning, and development of analytical tools. This third phase of the project (reflecting work completed in 2013-2015) focused on development and use of a primary care management information system; health financing reform, focusing on policy reform options to solve the problem of physician dual practice, in which physicians practice in both public and private settings; and hospital patient safety training within the context of health quality improvement...
October 2018: Rand Health Quarterly
https://www.readbyqxmd.com/read/30312704/eros-mutations-decreased-nadph-oxidase-function-and-chronic-granulomatous-disease
#16
David C Thomas, Louis-Marie Charbonnier, Andrea Schejtman, Hasan Aldhekri, Eve L Coomber, Elizabeth R Dufficy, Anne E Beenken, James C Lee, Simon Clare, Anneliese O Speak, Adrian J Thrasher, Giorgia Santilli, Hamoud Al-Mousa, Fowzan S Alkuraya, Talal A Chatila, Kenneth G C Smith
The phagocyte respiratory burst is mediated by the phagocyte NADPH oxidase, a multi-protein subunit complex that facilitates production of reactive oxygen species and which is essential for host defence. Monogenic deficiency of individual subunits leads to chronic granulomatous disease (CGD), which is characterized by an inability to make reactive oxygen species, leading to severe opportunistic infections and auto-inflammation. However, not all cases of CGD are due to mutations in previously identified subunits...
October 9, 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/30291357/publisher-correction-genomes-of-13-domesticated-and-wild-rice-relatives-highlight-genetic-conservation-turnover-and-innovation-across-the-genus-oryza
#17
Joshua C Stein, Yeisoo Yu, Dario Copetti, Derrick J Zwickl, Li Zhang, Chengjun Zhang, Kapeel Chougule, Dongying Gao, Aiko Iwata, Jose Luis Goicoechea, Sharon Wei, Jun Wang, Yi Liao, Muhua Wang, Julie Jacquemin, Claude Becker, Dave Kudrna, Jianwei Zhang, Carlos E M Londono, Xiang Song, Seunghee Lee, Paul Sanchez, Andrea Zuccolo, Jetty S S Ammiraju, Jayson Talag, Ann Danowitz, Luis F Rivera, Andrea R Gschwend, Christos Noutsos, Cheng-Chieh Wu, Shu-Min Kao, Jhih-Wun Zeng, Fu-Jin Wei, Qiang Zhao, Qi Feng, Moaine El Baidouri, Marie-Christine Carpentier, Eric Lasserre, Richard Cooke, Daniel da Rosa Farias, Luciano Carlos da Maia, Railson S Dos Santos, Kevin G Nyberg, Kenneth L McNally, Ramil Mauleon, Nickolai Alexandrov, Jeremy Schmutz, Dave Flowers, Chuanzhu Fan, Detlef Weigel, Kshirod K Jena, Thomas Wicker, Mingsheng Chen, Bin Han, Robert Henry, Yue-Ie C Hsing, Nori Kurata, Antonio Costa de Oliveira, Olivier Panaud, Scott A Jackson, Carlos A Machado, Michael J Sanderson, Manyuan Long, Doreen Ware, Rod A Wing
This article was not made open access when initially published online, which was corrected before print publication. In addition, ORCID links were missing for 12 authors and have been added to the HTML and PDF versions of the article.
November 2018: Nature Genetics
https://www.readbyqxmd.com/read/30282030/xbp1-klf9-axis-acts-as-a-molecular-rheostat-to-control-the-transition-from-adaptive-to-cytotoxic-unfolded-protein-response
#18
Emily E Fink, Sudha Moparthy, Archis Bagati, Anna Bianchi-Smiraglia, Brittany C Lipchick, David W Wolff, Matthew V Roll, Jianmin Wang, Song Liu, Andrei V Bakin, Eugene S Kandel, Ann-Hwee Lee, Mikhail A Nikiforov
Transcription factor XBP1s, activated by endoplasmic reticulum (ER) stress in a dose-dependent manner, plays a central role in adaptive unfolded protein response (UPR) via direct activation of multiple genes controlling protein refolding. Here, we report that elevation of ER stress above a critical threshold causes accumulation of XBP1s protein sufficient for binding to the promoter and activation of a gene encoding a transcription factor KLF9. In comparison to other XBP1s targets, KLF9 promoter contains an evolutionary conserved lower-affinity binding site that requires higher amounts of XBP1s for activation...
October 2, 2018: Cell Reports
https://www.readbyqxmd.com/read/30267029/the-effect-of-early-life-environmental-exposures-on-disease-phenotype-and-clinical-course-of-crohn-s-disease-in-children
#19
Livia Lindoso, Kajari Mondal, Suresh Venkateswaran, Hari K Somineni, Cortney Ballengee, Thomas D Walters, Anne Griffiths, Joshua D Noe, Wallace Crandall, Scott Snapper, Shervin Rabizadeh, Joel R Rosh, Neal LeLeiko, Stephen Guthery, David Mack, Richard Kellermayer, Ajay S Gulati, Marian D Pfefferkorn, Dedrick E Moulton, David Keljo, Stanley Cohen, Maria Oliva-Hemker, Melvin B Heyman, Anthony Otley, Susan S Baker, Jonathan S Evans, Barbara S Kirschner, Ashish S Patel, David Ziring, Michael C Stephens, Robert Baldassano, Marla C Dubinsky, James Markowitz, Lee A Denson, Jeffrey Hyams, Subra Kugathasan, Ashwin N Ananthakrishnan
OBJECTIVES: Environmental factors play an important role in the pathogenesis of Crohn's Disease (CD). In particular, by virtue of the instability of the microbiome and development of immunologic tolerance, early life factors may exert the strongest influence on disease risk and phenotype. METHODS: We used data from 1119 CD subjects recruited from RISK inception cohort to examine the impact of early life environment on disease progression. Our primary exposures of interest were breastfeeding in infancy and exposure to maternal, active, or passive smoke...
October 2018: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/30254378/population-based-genetic-testing-of-asymptomatic-women-for-breast-and-ovarian-cancer-susceptibility
#20
Simone M Rowley, Lyon Mascarenhas, Lisa Devereux, Na Li, Kaushalya C Amarasinghe, Magnus Zethoven, Jue Er Amanda Lee, Alexandra Lewis, James A Morgan, Sharne Limb, Mary-Anne Young, Paul A James, Alison H Trainer, Ian G Campbell
PURPOSE: The identification of carriers of hereditary breast and ovarian cancer (HBOC) gene variants through family cancer history alone is suboptimal, and most population-based genetic testing studies have been limited to founder mutations in high-risk populations. Here, we determine the clinical utility of identifying actionable variants in a healthy cohort of women. METHODS: Germline DNA from a subset of healthy Australian women participating in the lifepool project was screened using an 11-gene custom sequencing panel...
September 26, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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