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https://www.readbyqxmd.com/read/28087736/imputation-of-orofacial-clefting-data-identifies-novel-risk-loci-and-sheds-light-on-the-genetic-background-of-cleft-lip-%C3%A2-cleft-palate-and-cleft-palate-only
#1
Kerstin U Ludwig, Anne C Böhmer, John Bowes, Miloš Nikolić, Nina Ishorst, Niki Wyatt, Nigel L Hammond, Lina Gölz, Frederic Thieme, Sandra Barth, Hannah Schuenke, Johanna Klamt, Malte Spielmann, Khalid Aldhorae, Augusto Rojas-Martinez, Markus M Nöthen, Alvaro Rada-Iglesias, Michael J Dixon, Michael Knapp, Elisabeth Mangold
Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is among the most common human birth defects with multifactorial etiology. Here, we present results from a genome-wide imputation study of nsCL/P in which, after adding replication cohort data, four novel risk loci for nsCL/P are identified (at chromosomal regions 2p21, 14q22, 15q24 and 19p13). On a systematic level, we show that the association signals within this high-density dataset are enriched in functionally-relevant genomic regions that are active in both human neural crest cells (hNCC) and mouse embryonic craniofacial tissue...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28087676/the-longitudinal-study-of-aging-in-human-young-adults-knowledge-gaps-and-research-agenda
#2
Terrie E Moffitt, Daniel W Belsky, Andrea Danese, Richie Poulton, Avshalom Caspi
BACKGROUND: To prevent onset of age-related diseases and physical and cognitive decline, interventions to slow human aging and extend health span must eventually be applied to people while they are still young and healthy. Yet most human aging research examines older adults, many with chronic disease, and little is known about aging in healthy young humans. METHOD: This article explains how this knowledge gap is a barrier to extending health span and puts forward the case that geroscience should invest in researching the pace of aging in young adults...
February 2017: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/28087514/the-influence-of-meteorological-factors-and-atmospheric-pollutants-on-the-risk-of-preterm-birth
#3
Lise Giorgis-Allemand, Marie Pedersen, Claire Bernard, Inmaculada Aguilera, Rob M J Beelen, Leda Chatzi, Marta Cirach, Asta Danileviciute, Audrius Dedele, Manon van Eijsden, Marisa Estarlich, Ana Fernández-Somoano, Mariana F Fernández, Francesco Forastiere, Ulrike Gehring, Regina Grazuleviciene, Olena Gruzieva, Barbara Heude, Gerard Hoek, Kees de Hoogh, Edith H van den Hooven, Siri E Håberg, Carmen Iñiguez, Vincent W V Jaddoe, Michal Korek, Aitana Lertxundi, Johanna Lepeule, Per Nafstad, Wenche Nystad, Evridiki Patelarou, Daniela Porta, Dirkje Postma, Ole Raaschou-Nielsen, Peter Rudnai, Valérie Siroux, Jordi Sunyer, Euripides Stephanou, Mette Sørensen, Kirsten Thorup Eriksen, Derek Tuffnell, Mihály J Varró, Tanja G M Vrijkotte, Alet Wijga, John Wright, Mark J Nieuwenhuijsen, Göran Pershagen, Bert Brunekreef, Manolis Kogevinas, Rémy Slama
Atmospheric pollutants and meteorological conditions are suspected to be causes of preterm birth. We aimed to characterize their possible association with the risk of preterm birth (defined as birth occurring before 37 completed gestational weeks). We pooled individual data from 13 birth cohorts in 11 European countries (71,493 births from the period 1994-2011, European Study of Cohorts for Air Pollution Effects (ESCAPE)). City-specific meteorological data from routine monitors were averaged over time windows spanning from 1 week to the whole pregnancy...
January 13, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28087511/invited-commentary-ambient-environment-and-the-risk-of-preterm-birth
#4
Sandie Ha, Pauline Mendola
Preterm birth is a common adverse birth outcome known to be associated with increased infant mortality, and it often results in a higher burden of offspring morbidity in both the short and long terms. The potential for environmental factors, particularly air pollution and meteorological parameters, to increase preterm birth risk has received significant attention worldwide, but the findings are generally inconsistent, with variations in study designs and methods across populations and geographic locations. In the current issue of the Journal, Giorgis-Allemand et al...
January 13, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28087291/primary-care-perspectives-on-hepatitis-c-virus-screening-diagnosis-and-linking-patients-to-appropriate-care
#5
Edward Lebovics, Richard Torres, Lucinda K Porter
Enormous progress has been made in recent years toward effectively treating and curing patients with chronic hepatitis C (CHC). However, at least half of the possible 7 million individuals infected with hepatitis C virus (HCV) in the US remain undiagnosed. The formidable task of increasing the number of patients diagnosed, and subsequently linked to appropriate care has fallen to primary care clinicians, who are mandated by some US States to offer screening to individuals born between 1945 and 1965 (the Baby Boomer Generation)...
January 10, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/28081048/a-prospective-cohort-study-of-common-childhood-infections-in-south-african-hiv-exposed-uninfected-and-hiv-unexposed-infants
#6
Amy L Slogrove, Monika M Esser, Mark F Cotton, David P Speert, Tobias R Kollmann, Joel Singer, Julie A Bettinger
BACKGROUND: Much evidence of HIV-exposed uninfected (HEU) infant infectious morbidity predates availability of maternal combination antiretroviral therapy and does not control for universal risk factors (preterm birth, low birth weight, suboptimal breastfeeding and poverty). METHODS: This prospective cohort study identified HIV-infected and HIV-uninfected mothers and their newborns from South African community midwife unit. The primary outcome, infectious cause hospitalization or death before 6 months of age, was compared between HEU and HIV-unexposed (HU) infants and classified for type and severity using validated study-specific case definitions...
February 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28080187/early-life-risk-factors-for-testicular-cancer-a-case-cohort-study-based-on-the-copenhagen-school-health-records-register
#7
Johanne Spanggaard Piltoft, Signe Benzon Larsen, Susanne Oksbjerg Dalton, Christoffer Johansen, Jennifer L Baker, Luise Cederkvist, Ingelise Andersen
PURPOSE: One established risk factors for testicular cancer is cryptorchidism. However, it remains unclear whether cryptorchidism is a risk factor in itself or whether the two conditions share common causes in early life (estrogen hypothesis), such as birth weight and birth order. The objective of this study is to utilize data from the Copenhagen School Health Records Register (CSHRR) to evaluate cryptorchidism, birth weight and birth order as risk factors for testicular cancer. METHODS: The study population consisted of 408 cases of testicular cancer identified by a government issued identification number linkage of the entire CSHRR with the Danish Cancer Registry and a random subsample of 4819 males from the CSHRR...
January 12, 2017: Acta Oncologica
https://www.readbyqxmd.com/read/28079873/major-anomalies-and-birth-weight-influence-nicu-interventions-and-mortality-in-infants-with-trisomy-13-or-18
#8
K Acharya, S Leuthner, R Clark, T H Nghiem-Rao, A Spitzer, J Lagatta
OBJECTIVE: To describe neonatal intensive care unit (NICU) medical interventions and NICU mortality by birth weight and major anomaly types for infants with trisomy 13 (T13) or 18 (T18). STUDY DESIGN: Retrospective cohort analysis of infants with T13 or T18 from 2005 to 2012 in the Pediatrix Medical Group. We classified infants into three groups by associated anomaly type: neonatal surgical, non-neonatal surgical and minor. Outcomes were NICU medical interventions and mortality...
January 12, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28079872/is-use-of-multiple-antihypertensive-agents-to-achieve-blood-pressure-control-associated-with-adverse-pregnancy-outcomes
#9
S E Allen, A Tita, S Anderson, J R Biggio, Dr L M Harper
OBJECTIVE: We assessed whether requiring >1 medication for blood pressure control is associated with adverse pregnancy outcomes. STUDY DESIGN: Retrospective cohort of 974 singletons with chronic hypertension at a tertiary care center. Subjects on >1 antihypertensive agent were compared with those on one agent <20 weeks gestational age with results stratified by average blood pressure (<140/90 and ⩾140/90 mm Hg) from prenatal visits. The primary maternal outcome was preeclampsia; the primary neonatal outcome was small for gestational age (<10th percentile)...
January 12, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28079869/racial-and-social-predictors-of-longitudinal-cervical-measures-the-cervical-ultrasound-study
#10
E W Harville, K S Miller, L R Knoepp
OBJECTIVE: To evaluate whether the racial and socioeconomic disparities are present in adverse cervical parameters, and, if so, when such disparities develop. STUDY DESIGN: A prospective cohort study was conducted. 175 women with a prior preterm birth had up to four endovaginal ultrasounds between gestational weeks 16 and 24 (Cervical Ultrasound Trial of the MFMU). Each sociodemographic factor (race/ethnicity, marital status, insurance funding and education) was examined as a predictor of short cervix or U/funnel shape, using multiple logistic and linear regression...
January 12, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28079831/gastric-cancer-burden-of-last-40-years-in-north-china-hebei-province-a-population-based-study
#11
Di Liang, Suoyuan Liang, Jing Jin, Daojuan Li, Jin Shi, Yutong He
Gastric cancer (GC) is the second leading cause of cancer death in China. It is well known that Cixian in Hebei Province is one of the highest risk areas of GC in China and worldwide. This study aims to accurate assessment of GC burden and trend in high-risk area (Hebei Province) from 1973 to 2013. The authors analyzed GC data from 21 population-based cancer registries which represented 15.25% of the entire population of Hebei Province. The collected data were stratified by 5-year age groups, gender, and area...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28079778/association-of-intended-route-of-delivery-and-maternal-morbidity-in-twin-pregnancy
#12
Sarah Rae Easter, Julian N Robinson, Ellice Lieberman, Daniela Carusi
OBJECTIVE: To evaluate maternal morbidity in twin pregnancies according to intended mode of delivery. METHODS: We assembled a 7-year retrospective cohort (2007-2014) of women delivering viable, vertex-presenting twins beyond 32 weeks of gestation without contraindication to labor or uterine scar. We classified women as undergoing a trial of labor to attempt vaginal birth or choosing an elective cesarean delivery. Our primary outcome was a measure of composite maternal morbidity including death, postpartum hemorrhage, infection, major procedure, readmission for infection or reoperation, need for dilation and evacuation for hemorrhage or infection, venous thromboembolism, small bowel obstruction or ileus, or intensive care unit admission...
January 9, 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28079766/attempted-and-successful-vacuum-assisted-vaginal-delivery-by-prepregnancy-body-mass-index
#13
Sebastian Z Ramos, Molly E Waring, Katherine Leung, Nili S Amir, Annika L Bannon, Tiffany A Moore Simas
OBJECTIVE: To examine rates of attempted and successful vacuum-assisted vaginal delivery by prepregnancy body mass index (BMI). METHODS: We conducted a retrospective cohort study of 2,084 women with singleton gestations needing operative delivery assistance and vacuum-eligible (fully dilated, +2 station or greater, 34 weeks of gestation or greater) using 2006-2014 inpatient records. Prepregnancy BMI was categorized as underweight (less than 18.5), normal weight (18...
January 9, 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28079434/previous-pregnancy-outcomes-and-subsequent-pregnancy-anxiety-in-a-quebec-prospective-cohort
#14
Gabriel D Shapiro, Jean R Séguin, Gina Muckle, Patricia Monnier, William D Fraser
INTRODUCTION: Pregnancy anxiety is an important psychosocial risk factor that may be more strongly associated with adverse birth outcomes than other measures of stress. Better understanding of the upstream predictors and causes of pregnancy anxiety could help to identify high-risk women for adverse maternal and infant outcomes. The objective of the present study was to measure the associations between five past pregnancy outcomes (live preterm birth (PTB), live term birth, miscarriage at <20 weeks, stillbirth at ≥20 weeks, and elective abortion) and pregnancy anxiety at three trimesters in a subsequent pregnancy...
January 12, 2017: Journal of Psychosomatic Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28079409/promoting-awareness-of-neonatal-menstruation
#15
Paola Bianchi, Giuseppe Benagiano, Ivo Brosens
Neonatal uterine bleeding (NUB) has been carefully studied in the past through case reports, small series, clinical cohort studies, pathology investigations of fetal and neonatal. Following a historical recount, this review summarizes biological mechanisms conditioning NUB, starting from the persistence till birth of an 'ontogenetic progesterone resistance' (OPR), causing decreased responsiveness of target tissues to bioavailable progesterone. Several pregnancy-related conditions, such as preeclampsia, fetal growth restriction, prematurity, post-maturity and even Rhesus or ABO incompatibility, influence the occurrence of NUB...
January 12, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28078704/commentary-on-trias-llim%C3%A3-s-et-al-2017-birth-cohort-research-an-essential-tool-to-guide-public-health-interventions
#16
Jeffrey V Lazarus, Daniel J Bromberg
No abstract text is available yet for this article.
February 2017: Addiction
https://www.readbyqxmd.com/read/28078382/timing-and-mode-of-delivery-in-prenatally-diagnosed-congenital-heart-disease-an-analysis-of-practices-within-the-university-of-california-fetal-consortium-ucfc
#17
Shabnam Peyvandi, Tina Ahn Thu Thi Nguyen, Myriam Almeida-Jones, Nina Boe, Laila Rhee, Tracy Anton, Mark Sklansky, Maryam Tarsa, Gary Satou, Anita J Moon-Grady
Prenatal diagnosis of critical congenital heart disease (CHD) is associated with decreased morbidity. It is also associated with lower birth weights and earlier gestational age at delivery. The University of California Fetal Consortium (UCfC) comprises five tertiary medical centers, and was created to define treatment practices. We utilized this consortium to assess delivery patterns and outcomes in subjects with prenatal and postnatal diagnosis of CHD. A retrospective cohort study was conducted on maternal-neonatal pairs diagnosed with complex CHD prenatally (n = 186) and postnatally (n = 110) from 2011 to 2013...
January 11, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28077109/cause-of-neonatal-deaths-in-northern-ethiopia-a-prospective-cohort-study
#18
Hayelom Gebrekirstos Mengesha, Berhe W Sahle
BACKGROUND: Despite the significant reduction in childhood mortality, neonatal mortality has shown little or no concomitant decline worldwide. The dilemma arises in that the lack of documentation of cause of death in developing countries, where registration of vital events is virtually nonexistent. Understanding of the causes of death in neonates is important to guide public health interventions. The present study identifies the common causes of neonatal death in Ethiopia. METHODS: A prospective cohort study was conducted among neonates born between April 2014 and July 2014 in seven hospitals, in Tigray region, Ethiopia...
January 11, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28076991/type-2-diabetes-mellitus-does-prenatal-care-affect-outcomes-suggested-running-head-treatment-of-t2dm-and-perinatal-outcomes
#19
Allison J Allen, Jonathan M Snowden, Bernard Lau, Yvonne Cheng, Aaron B Caughey
OBJECTIVE: To determine if prenatal care affects adverse perinatal outcomes in pregnant women with Type-2 Diabetes Mellitus. STUDY DESIGN: This was a retrospective cohort study of pregnant women with pregestational diabetes mellitus pregnancies in the state of California between 1997 and 2006, using vital statistics data linked to birth certificates. Women were stratified by time of presentation to care and we compared those who presented in the first trimester, third trimester, and those who had no prenatal care prior to delivery...
January 11, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28076893/-pseudo-feeders-on-fetal-mri-predict-outcome-in-vein-of-galen-malformations
#20
Guillaume Saliou, Irène Vraka, Jean-Paul Teglas, Marie-Victoire Senat, Philippe Durand, Claire Colmant, Augustin Ozanne, Jelena Martinovic, Pierre Tissiere, Catherine Adamsbaum
OBJECTIVE: While vein of Galen aneurysmal malformations (VGAM) can be diagnosed in the fetus, the challenge is predicting the occurrence of its two major complications: cardiopulmonary failure and encephalomalacia. This study attempts to determine which fetal brain MRI features might be used to predict the development of these complications at birth. METHODS: The cohort was extracted from a prospectively-assembled database of VGAM cases managed at a single referral centre from 2000 to 2014...
January 11, 2017: Annals of Neurology
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