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https://www.readbyqxmd.com/read/28346920/microbial-composition-of-the-initial-colonization-of-newborns
#1
Samuli Rautava
Early-life interaction with indigenous intestinal microbes is a prerequisite for healthy immune and metabolic maturation. Human infants acquire their gut microbiota predominantly from the mother. A considerable inoculum of microbes is received by the neonate during vaginal delivery. Recent observations suggest that human gut colonization may be initiated prenatally by microbes in amniotic fluid, but the significance of this phenomenon remains unknown. After birth, neonatal gut colonization is guided by human milk factors, which selectively promote the growth of specific microbes, as well as by live microbes present in human milk...
2017: Nestlé Nutrition Institute Workshop Series
https://www.readbyqxmd.com/read/28346690/the-benefits-and-limitations-of-cell-free-dna-screening-for-47-xxy-klinefelter-syndrome
#2
Carole Samango-Sprouse, Colleen Keen, Teresa Sadeghin, Andrea Gropman
OBJECTIVE: The purpose of this paper is to provide an overview of the 47, XXY syndrome, which is the most commonly occurring X and Y chromosomal variation. This paper seeks to review what is currently known of noninvasive prenatal testing (NIPT) and 47, XXY, and investigate potential risks and benefits of prenatal identification. METHOD: A literature review of NIPT and 47, XXY was performed to identify limitations of current NIPT techniques. RESULTS: As NIPT becomes an increasingly more routine procedure, prenatal findings of 47, XXY may increase...
March 27, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28346624/association-of-group-prenatal-care-in-us-family-medicine-residencies-with-maternity-care-practice-a-cera-secondary-data-analysis
#3
Wendy B Barr, Sebastian T Tong, Nicholas M LeFevre
BACKGROUND AND OBJECTIVES: Group prenatal care has been shown to improve both maternal and neonatal outcomes. With increasing adaption of group prenatal care by family medicine residencies, this model may serve as a potential method to increase exposure to and interest in maternity care among trainees. This study aims to describe the penetration, regional and program variations, and potential impacts on future maternity care practice of group prenatal care in US family medicine residencies...
March 2017: Family Medicine
https://www.readbyqxmd.com/read/28346496/overlapping-setbp1-gain-of-function-mutations-in-schinzel-giedion-syndrome-and-hematologic-malignancies
#4
Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel, Lindsday A Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G Nur, Ercan Mihci, Lilia M A Moreira, Viviane Borges Ferreira, Dafne D G Horovitz, Katia M da Rocha, Aleksandra Jezela-Stanek, Alice S Brooks, Heiko Reutter, Julie S Cohen, Ali Fatemi, Martin Smitka, Theresa A Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A Veltman, Bert B A De Vries, Albert Schinzel, Simon E Fisher, Alexander Hoischen, Bregje W van Bon
Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in exon 4 of SETBP1. Mutations in this hotspot disrupt a degron, a signal for the regulation of protein degradation, and lead to the accumulation of SETBP1 protein. Overlapping SETBP1 hotspot mutations have been observed recurrently as somatic events in leukemia. We collected clinical information of 47 SGS patients (including 26 novel cases) with germline SETBP1 mutations and of four individuals with a milder phenotype caused by de novo germline mutations adjacent to the SETBP1 hotspot...
March 27, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28345754/second-to-fourth-digit-ratio-2d-4d-is-unrelated-to-measures-of-somatic-reproductive-effort-among-young-men-from-cebu-the-philippines
#5
Alexander V Georgiev, Calen P Ryan, Lee T Gettler, Thomas W McDade, Christopher W Kuzawa
OBJECTIVES: A low second-to-fourth (2D:4D) digit ratio, a retrospective marker of high prenatal androgens, predicts increased investment in costly sexually dimorphic traits in men in some studies, although results are mixed. Here we test the hypothesis that the association of low 2D:4D ratios with increased muscularity and decreased adiposity depends on current testosterone (T) levels, such that digit ratio will be a particularly strong predictor of outcomes among men exhibiting a mating-effort-oriented endocrinological profile (high T)...
March 27, 2017: American Journal of Physical Anthropology
https://www.readbyqxmd.com/read/28345663/nuclear-localization-of-beclin-1-promotes-radiation-induced-dna-damage-repair-independent-of-autophagy
#6
Fei Xu, Yixuan Fang, Lili Yan, Lan Xu, Suping Zhang, Yan Cao, Li Xu, Xiaoying Zhang, Jialing Xie, Gaoyue Jiang, Chaorong Ge, Ni An, Daohong Zhou, Na Yuan, Jianrong Wang
Beclin 1 is a well-established core mammalian autophagy protein that is embryonically indispensable and has been presumed to suppress oncogenesis via an autophagy-mediated mechanism. Here, we show that Beclin 1 is a prenatal primary cytoplasmic protein but rapidly relocated into the nucleus during postnatal development in mice. Surprisingly, deletion of beclin1 in in vitro human cells did not block an autophagy response, but attenuated the expression of several DNA double-strand break (DSB) repair proteins and formation of repair complexes, and reduced an ability to repair DNA in the cells exposed to ionizing radiation (IR)...
March 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28345240/prenatal-dna-sequencing-clinical-counseling-and-diagnostic-laboratory-considerations
#7
Ahmad N Abou Tayoun, Nancy B Spinner, Heidi L Rehm, Robert C Green, Diana W Bianchi
Clinical diagnostic laboratories are producing next generation sequencing (NGS)-based test results that are becoming increasingly incorporated into patient care. Whole genome and exome sequencing on fetal material derived from amniocytes, chorionic villi, or products of conception is starting to be offered clinically in specialized centers, but it has not yet become routine practice. The technical, interpretation and ethical challenges are greatest in the area of prenatal medicine because the fetus has a limited health history and the physical examination is only indirectly available via prenatal sonography...
March 27, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28345111/prenatal-ultrasonic-diagnosis-and-differential-diagnosis-of-isolated-right-aortic-arch-with-mirror-image-branching
#8
Junxue Gao, Jiaan Zhu, Qiuyan Pei, Jianguo Li
PURPOSE: This study sought to evaluate the fetal echocardiography features of isolated right aortic arch (RAA) with mirror-image branching and to improve the rate and accuracy of prenatal diagnosis of this condition. METHODS: We reviewed fetal echocardiograms from all cases of isolated RAA with mirror-image branching diagnosed at our institution between August 2012 and December 2015 and classified these cases into normal and abnormal types of ductus arteriosus based on the course of the arterial duct arch...
March 27, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28344212/age-dependent-effects-of-prenatal-dexamethasone-exposure-on-immune-responses-in-male-rats
#9
Ming-Yi Chou, Li-Tung Huang, You-Lin Tain, Ho-Chang Kuo, Mao-Meng Tiao, Jiunn-Ming Sheen, Chih-Cheng Chen, Pi-Lien Hung, Kai-Sheng Hsieh, Hong-Ren Yu
Prenatal glucocorticoid therapy is indicated in preterm delivery to prevent respiratory distress. This study was designed to evaluate the age-dependent effects of prenatal dexamethasone (DEX) therapy on the immune system using a rat model. Pregnant Sprague-Dawley rats received an intraperitoneal injection of DEX (0.1 mg/kg/day) or saline (VEH) over gestational days 14-20. Male offspring were sacrificed at postnatal day 7 (D7; infant stage), D120 (young adult stage), and D180 (adult stage) for evaluation of leukocyte subsets and isolation of splenocytes...
2017: Tohoku Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28344185/arthrogryposis-as-neonatal-presentation-of-loeys-dietz-syndrome-due-to-a-novel-tgfbr2-mutation
#10
Irene Valenzuela, Paula Fernández-Alvarez, Francina Munell, Angel Sanchez-Montanez, Gemma Giralt, Teresa Vendrell, Eduardo Tizzano
Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized mainly by cardiovascular, craniofacial and skeletal features. We report on a patient with LDS, whose prenatal examination was compatible with the diagnosis of arthrogryposis multiplex congenita. Neonatal assessment showed craniofacial and cardiovascular findings suggestive of LDS whose diagnosis was confirmed by the detection of a novel mutation (HGVN: NM_003242.5 (TGFBR2): c.1381T > C (p.(Cys461Arg))) in the TGFBR2 gene...
March 23, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28343908/-fetal-mri-practices-in-a-university-prenatal-center
#11
A Fievet, B Morel, C Sembély-Taveau, B Thoreau, F Perrotin, D Sirinelli
OBJECTIVES: Fetal MRI is a third intention examination to prenatal diagnosis. If its diagnostic value is well known in many pathologies, its place in the management of pregnancies remains unclear. METHODS: We collected retrospectively demographical, radiological (fetal MRI indications, fetal anatomical region and diagnostic information provided by fetal MRI) and obstetrical data of pregnant patients in university prenatal center during a 5 years' period. RESULTS: Among 2439 patients of the prenatal center, 196 (8%) patients with fetal MRI were included...
March 23, 2017: Gynecol Obstet Fertil Senol
https://www.readbyqxmd.com/read/28343629/biallelic-variants-in-otud6b-cause-an-intellectual-disability-syndrome-associated-with-seizures-and-dysmorphic-features
#12
Teresa Santiago-Sim, Lindsay C Burrage, Frédéric Ebstein, Mari J Tokita, Marcus Miller, Weimin Bi, Alicia A Braxton, Jill A Rosenfeld, Maher Shahrour, Andrea Lehmann, Benjamin Cogné, Sébastien Küry, Thomas Besnard, Bertrand Isidor, Stéphane Bézieau, Isabelle Hazart, Honey Nagakura, LaDonna L Immken, Rebecca O Littlejohn, Elizabeth Roeder, Bulent Kara, Katia Hardies, Sarah Weckhuysen, Patrick May, Johannes R Lemke, Orly Elpeleg, Bassam Abu-Libdeh, Kiely N James, Jennifer L Silhavy, Mahmoud Y Issa, Maha S Zaki, Joseph G Gleeson, John R Seavitt, Mary E Dickinson, M Cecilia Ljungberg, Sara Wells, Sara J Johnson, Lydia Teboul, Christine M Eng, Yaping Yang, Peter-Michael Kloetzel, Jason D Heaney, Magdalena A Walkiewicz
Ubiquitination is a posttranslational modification that regulates many cellular processes including protein degradation, intracellular trafficking, cell signaling, and protein-protein interactions. Deubiquitinating enzymes (DUBs), which reverse the process of ubiquitination, are important regulators of the ubiquitin system. OTUD6B encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes. Herein, we report biallelic pathogenic variants in OTUD6B in 12 individuals from 6 independent families with an intellectual disability syndrome associated with seizures and dysmorphic features...
March 21, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28343562/prenatal-exposure-to-diurnal-temperature-variation-and-early-childhood-pneumonia
#13
Ji Zeng, Chan Lu, Qihong Deng
BACKGROUND: Childhood pneumonia is one of the leading single causes of mortality and morbidity in children worldwide, but its etiology still remains unclear. OBJECTIVE: We investigate the association between childhood pneumonia and exposure to diurnal temperature variation (DTV) in different timing windows. METHODS: We conducted a prospective cohort study of 2,598 children aged 3-6 years in Changsha, China. The lifetime prevalence of pneumonia was assessed by a questionnaire administered by the parents...
April 2017: Journal of Thermal Biology
https://www.readbyqxmd.com/read/28343557/infants-born-to-opioid-dependent-women-in-ontario-2002-2014
#14
Susan B Brogly, Suzanne Turner, Katherine Lajkosz, Greg Davies, Adam Newman, Ana Johnson, Kimberly Dow
BACKGROUND: There is a paucity of data characterizing mother-infant pairs with prenatal opioid dependence in Canada. We therefore conducted a study of relevant births in Ontario from 2002 to 2014. METHODS: We used data from the Institute for Clinical Evaluative Sciences, the linked databases of coded population-based Ontario health services records. Differences in characteristics of opioid-dependent mother-neonate pairs and infant hospital costs by year were assessed using linear regression, and we calculated rates of preterm birth, low birth weight, birth defects, mortality, and neonatal abstinence syndrome...
March 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28343459/a-retrospective-analysis-of-a-societal-experiment-among-the-danish-population-suggests-that-exposure-to-extra-doses-of-vitamin-a-during-fetal-development-may-lower-type-2-diabetes-mellitus-t2dm-risk-later-in-life
#15
Amélie Keller, Lars Ängquist, Ramune Jacobsen, Allan Vaag, Berit L Heitmann
Vitamin A deficiency has been associated with impaired fetal pancreatic development and increased risk of developing type 2 diabetes mellitus (T2DM). In 1962, mandatory margarine fortification with vitamin A was increased by 25 % in Denmark. We aimed to determine whether offspring of mothers who had been exposed to the extra vitamin A from fortification during pregnancy had a lower risk of developing T2DM in adult life, compared with offspring of mothers exposed to less vitamin A. Individuals from birth cohorts with the higher prenatal vitamin A exposure (born 1 December 1962-31 March 1964) and those with lower prenatal exposure (born 1 September 1959-31 December 1960) were followed up with regard to development of T2DM before 31 December 2012 in the Danish National Diabetes Registry and National Patient Register...
March 27, 2017: British Journal of Nutrition
https://www.readbyqxmd.com/read/28343422/challenges-for-epigenetic-research-in-inflammatory-bowel-diseases
#16
Richard Kellermayer
The human epigenome may link environmental exposures and commensal microbiota changes to host pathology in respect to the developmental origins of inflammatory bowel diseases (ulcerative colitis [UC] and Crohn's disease [more appropriately Crohn disease, CD]). Genetic predisposition - prenatal, perinatal and pediatric environmental influences - microbiome aberration (dysbiosis) and immune dysregulation appear to be important elements in disease development, progression and maintenance. The prevalence of combined genetic and epigenetic susceptibility toward UC and CD is calculated herein to be as high as 2%, and approximately 1% for UC and CD in highly developed countries, respectively...
March 27, 2017: Epigenomics
https://www.readbyqxmd.com/read/28343179/nulliparous-teenagers-and-preterm-birth-in-california
#17
Jonathan A Mayo, Bat Zion Shachar, David K Stevenson, Gary M Shaw
BACKGROUND: Young maternal age is one of the numerous risk factors for delivery before 37 weeks of gestation, yet the mechanisms are unclear. The purpose of the current study was to investigate the association between teenagers and the risk of preterm birth (PTB) in a large and recent cohort study. METHODS: We conducted a population-based retrospective cohort study using 2007-2011 California birth certificate records linked with hospital discharge indices and United States census data for nulliparous 13-20 year olds who gave birth to singletons...
March 27, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28343094/effects-of-posted-point-of-sale-warnings-on-alcohol-consumption-during-pregnancy-and-on-birth-outcomes
#18
Gulcan Cil
In 23 states and Washington D.C., alcohol retailers are required by law to post alcohol warning signs (AWS) that warn against the risks of drinking during pregnancy. Using the variation in the adoption of these laws across states and within states over time, I find a statistically significant reduction in prenatal alcohol use associated with AWS. I then use this plausibly exogenous change in drinking behavior to establish a causal link between prenatal alcohol exposure and birth outcomes. I find that AWS laws are associated with decreases in the odds of very low birth weight and very pre-term birth...
March 18, 2017: Journal of Health Economics
https://www.readbyqxmd.com/read/28342960/geophagy-during-pregnancy-is-there-a-health-risk-for-infants
#19
Claudia Gundacker, Ruth Kutalek, Rosina Glaunach, Coloman Deweis, Markus Hengstschläger, Armin Prinz
Prenatal lead exposure is a public health concern. Geophagy, the practice of soil eating, is documented for pregnant women of sub-Saharan Africa to treat pregnancy-related malaise. The soils however can contain substantial amounts of lead. In an exploratory study on 48 mother-child pairs in the Democratic Republic of Congo, we found striking site-specific differences in prenatal lead exposure, i.e., higher lead levels at Kisangani than at Isiro. Kisangani women consumed 1/ more often soil during the first trimester of pregnancy as well as 2/ a different type of soil compared to Isiro women (P<0...
March 23, 2017: Environmental Research
https://www.readbyqxmd.com/read/28342726/noninvasive-prenatal-testing-for-fetal-aneuploidy-and-single-gene-disorders
#20
REVIEW
Hannah Skrzypek, Lisa Hui
Our concept of nucleic acid biology has advanced dramatically over the past two decades, with a growing appreciation that cell-free DNA (cfDNA) fragments are present in all body fluids including plasma. In no other field has plasma DNA been as rapidly translated into clinical practice as in noninvasive prenatal testing (NIPT) for fetal chromosome abnormalities. NIPT is a screening test that requires confirmation with diagnostic testing, but other applications of cfDNA provide diagnostic information and do not require invasive testing...
February 28, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
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