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https://www.readbyqxmd.com/read/28550180/a-novel-de-novo-mutation-in-prkag2-gene-infantile-onset-phenotype-and-signaling-pathway-involved
#1
Yanchun Xu, Alex Gray, David Grahame Hardie, Alper Uzun, Sunil Shaw, James F Padbury, Chanika Phornphutkul, Yi-Tang Tseng
PRKAG2 encodes the γ2-subunit isoform of the 5' AMP-activated protein kinase (AMPK), a heterotrimeric enzyme with major roles in regulation of energy metabolism in response to cellular stress. Mutations in PRKAG2 have been implicated in a unique hypertrophic cardiomyopathy (HCM) characterized by cardiac glycogen overload, ventricular preexcitation and hypertrophy. We identified a novel, de novo PRKAG2 mutation (K475E) in a neonate with prenatal onset of HCM. We aimed to investigate the cellular impact, signaling pathways involved and therapeutic options for K475E mutation using cells stably expressing human wild type (WT) or the K475E mutant...
May 26, 2017: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/28549981/early-pregnancy-vaginal-microbiome-trends-and-preterm-birth
#2
Molly J Stout, Yanjiao Zhou, Kristine M Wylie, Phillip I Tarr, George A Macones, Methodius G Tuuli
BACKGROUND: Despite decades of attempts to link infectious agents to preterm birth, an exact causative microbe or community of microbes remains elusive. Non-culture 16S ribosomal RNA gene sequencing suggests important racial differences and pregnancy specific changes in the vaginal microbial communities. A recent study examining the association of the vaginal microbiome and preterm birth documented important findings but was performed in a predominantly White cohort. Given the important racial differences in bacterial communities within the vagina as well as persistent racial disparities in preterm birth it is important to examine cohorts with varied demographic compositions...
May 23, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28549978/gestational-weight-gain
#3
REVIEW
Michelle A Kominiarek, Alan M Peaceman
Prenatal care providers are advised to evaluate maternal weight at each regularly scheduled prenatal visit, monitor progress toward meeting weight gain goals, and provide individualized counseling if significant deviations from a woman's goals occur. Today, nearly 50% of women exceed their weight gain goals with overweight and obese women having the highest prevalence of excessive weight gain. Risks of inadequate weight gain include low birth weight and failure to initiate breastfeeding whereas the risks of excessive weight gain include cesarean deliveries and post-partum weight retention for the mother and large for gestational age infants, macrosomia, and childhood overweight or obesity for the offspring...
May 23, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28549654/congenital-heart-defects-and-measures-of-prenatal-brain-growth-a-systematic-review
#4
REVIEW
Thommy Hansen, Tine Brink Henriksen, Cathrine Carlsen Bach, Niels Bjerregård Matthiesen
BACKGROUND: We summarize the evidence for an association between congenital heart defects and prenatal brain growth through a systematic literature review. Congenital heart defects are among the most common malformations, affecting approximately six per 1000 live births. The association between congenital heart defects and long-term neurodevelopmental disorders is well established. Increasing evidence suggests an association between impaired prenatal brain growth and neurodevelopmental disorders in children with congenital heart defects...
April 1, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28549634/maternal-adverse-childhood-experience-and-infant-health-biomedical-and-psychosocial-risks-as-intermediary-mechanisms
#5
Sheri Madigan, Mark Wade, Andre Plamondon, Jonathon L Maguire, Jennifer M Jenkins
OBJECTIVE: To assess the mechanisms accounting for the transfer of risk from one generation to the next, especially as they relate to maternal adverse childhood experiences and infant physical and emotional health outcomes. STUDY DESIGN: Participants were 501 community mother-infant dyads recruited shortly after the birth and followed up at 18 months. Mothers retrospectively reported on their adverse childhood experiences. The main outcome measures were parent-reported infant physical health and emotional problems...
May 23, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28548590/prenatal-exposure-to-neurotoxic-metals-is-associated-with-increased-placental-glucocorticoid-receptor-dna-methylation
#6
Allison A Appleton, Brian P Jackson, Margaret Karagas, Carmen J Marsit
Epigenetic alterations related to prenatal neurotoxic metals exposure may be key in understanding the origins of cognitive and neurobehavioral problems in children. Placental glucocorticoid receptor (NR3C1) methylation has been linked to neurobehavioral risk in early life, but has not been examined in response to neurotoxic metals exposure despite parallel lines of research showing metals exposure and NR3C1 methylation each contribute to a similar set of neurobehavioral phenotypes. Thus, we conducted a study of prenatal neurotoxic metals exposure and placental NR3C1 methylation in a cohort of healthy term singleton pregnancies from Rhode Island, USA (n = 222)...
May 26, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/28548003/medicolegal-cases-involving-periviable-births-from-a-major-united-states-legal-database
#7
Hemananda Muniraman, Miranda Cascione, Rangasamy Ramanathan, Jimmy Nguyen
OBJECTIVE: The management of expectant mothers and infants born at the threshold of viability is challenging. We describe medicolegal cases from a major United States legal database involving periviable births in an effort to identify areas for improvement. STUDY DESIGN: We conducted a retrospective review of all United States state and federal cases in the Westlaw database from 1980 through 2016 involving peripartum and immediate post-delivery management of infants born between 22 0/7 and 25 6/7 weeks' gestation...
May 26, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28547659/quiescent-adult-stem-cells-in-murine-teeth-are-regulated-by-shh-signaling
#8
Yuko Ishikawa, Mitsushiro Nakatomi, Hiroko Ida-Yonemochi, Hayato Ohshima
The mechanisms regulating the maintenance of quiescent adult stem cells in teeth remain to be fully elucidated. Our aim is to clarify the relationship between BrdU label-retaining cells (LRCs) and sonic hedgehog (Shh) signaling in murine teeth. After prenatal BrdU labeling, mouse pups were analyzed during postnatal day 1 (P1) to week 5 (P5W). Paraffin sections were processed for immunohistochemistry for BrdU, Sox2, Gli1, Shh, Patched1 (Ptch1) and Ki67 and for in situ hybridization for Shh and Ptch1. Dense LRCs, Gli1-(+) cells and Ptch1-(+) cells were co-localized in the outer enamel epithelium of the apical bud and apical dental papilla of incisors...
May 26, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28547209/anesthesia-for-myelomeningocele-surgery-in-fetus
#9
Juan Carlos Devoto, Juan Luis Alcalde, Felipe Otayza, Waldo Sepulveda
BACKGROUND: Administering anesthesia for prenatal repair of myelomeningocele reveals several issues that are unique to this new form of treatment. This includes issues such as fetal well-being, surgical conditions and monitoring, among others. Exploring, analyzing, and understanding the different variables that are involved will help us reduce the high level of risk associated with this surgery. OBJECTIVE: This review provides a systematic approach to the issues that are faced by anesthesiologists during fetal surgery...
May 25, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28546993/nationwide-genetic-analysis-for-molecularly-unresolved-cystic-fibrosis-patients-in-a-multiethnic-society-implications-for-preconception-carrier-screening
#10
Doron M Behar, Ori Inbar, Michal Shteinberg, Michal Gur, Huda Mussaffi, David Shoseyov, Moshe Ashkenazi, Soliman Alkrinawi, Concetta Bormans, Fahed Hakim, Meir Mei-Zahav, Malena Cohen-Cymberknoh, Adi Dagan, Dario Prais, Ifat Sarouk, Patrick Stafler, Bat El Bar Aluma, Gidon Akler, Elie Picard, Micha Aviram, Ori Efrati, Galit Livnat, Joseph Rivlin, Lea Bentur, Hannah Blau, Eitan Kerem, Amihood Singer
BACKGROUND: Preconception carrier screening for cystic fibrosis (CF) is usually performed using ethnically targeted panels of selected mutations. This has been recently challenged by the use of expanded, ethnically indifferent, pan-population panels. Israel is characterized by genetically heterogeneous populations carrying a wide range of CFTR mutations. To assess the potential of expanding the current Israeli preconception screening program, we sought the subset of molecularly unresolved CF patients listed in the Israeli CF data registry comprising ~650 patients...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28546819/the-effectiveness-of-counseling-in-reducing-anxiety-among-nulliparous-pregnant-women
#11
Parisa Parsa, Nafiseh Saeedzadeh, Seyedeh Zahra Masoumi, Ghodratallah Roshanaei
Objective: To determine the effectiveness of counseling in reducing anxiety of nulliparous pregnant women. Materials and methods: In this quasi-experimental study, 110 nulliparous pregnant women were selected out of all pregnant women referring to Fatemieh Hospital in Hamadan, Iran. Then, the subjects were divided into two groups in experimental and control (55 women in each). The data were collected through a questionnaire covering demographic and obstetric characteristics and Spielberger's State-Trait Anxiety Inventory...
December 2016: Journal of Family & Reproductive Health
https://www.readbyqxmd.com/read/28546058/the-role-of-il-6-in-neurodevelopment-after-prenatal-stress
#12
Serena B Gumusoglu, Rebecca S Fine, Samuel J Murray, Jada L Bittle, Hanna E Stevens
Prenatal stress exposure is associated with adverse psychiatric outcomes, including autism and ADHD, as well as locomotor and social inhibition and anxiety-like behaviors in animal offspring. Similarly, maternal immune activation also contributes to psychiatric risk and aberrant offspring behavior. The mechanisms underlying these outcomes are not clear. Offspring microglia and the pro-inflammatory cytokine interleukin-6 (IL-6), known to influence microglia, may serve as common mechanisms between prenatal stress and prenatal immune activation...
May 22, 2017: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/28545476/prenatal-diagnosis-and-prevention-of-toxoplasmosis-in-pregnant-women-in-northern-vietnam-study-protocol
#13
G Suzanne A Smit, Thi Lam Binh Vu, Trung Dung Do, Niko Speybroeck, Brecht Devleesschauwer, Elizaveta Padalko, Ellen Roets, Pierre Dorny
BACKGROUND: In Vietnam, no systematic prenatal toxoplasmosis screening is in place, and only few studies have assessed the prevalence and importance of this zoonotic parasite infection. In addition, no studies have been conducted to assess the risk factors associated with toxoplasmosis. This study protocol was developed to determine the seroprevalence of toxoplasmosis in pregnant women in Hanoi and Thai Binh, Northern Vietnam, and to evaluate the association with risk factors and congenital toxoplasmosis...
May 25, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28545459/from-therapeutic-to-elective-cesarean-deliveries-factors-associated-with-the-increase-in-cesarean-deliveries-in-chiapas
#14
María Graciela Freyermuth, José Alberto Muños, María Del Pilar Ochoa
BACKGROUND: Cesarean deliveries have increased over the past decade in Mexico, including those states with high percentages of indigenous language speakers, e.g., Chiapas. However, the factors contributing to this trend and whether they affect indigenous languages populations remain unknown. Thus, this work aims to identify some of the factors controlling the prevalence of cesarean sections (C-sections) in Chiapas between the 2011-2014 period. METHODS: We analyzed certified birth data, compiled by the Subsystem of Information on Births of the Secretary of Health and the National Institute of Statistics and Geography, and information regarding the Human Development Index (HDI), assembled by the United Nations Development Program...
May 25, 2017: International Journal for Equity in Health
https://www.readbyqxmd.com/read/28545422/quality-of-antenatal-care-predicts-retention-in-skilled-birth-attendance-a-multilevel-analysis-of-28-african-countries
#15
Adanna Chukwuma, Adaeze C Wosu, Chinyere Mbachu, Kelechi Weze
BACKGROUND: An effective continuum of maternal care ensures that mothers receive essential health packages from pre-pregnancy to delivery, and postnatally, reducing the risk of maternal death. However, across Africa, coverage of skilled birth attendance is lower than coverage for antenatal care, indicating mothers are not retained in the continuum between antenatal care and delivery. This paper explores predictors of retention of antenatal care clients in skilled birth attendance across Africa, including sociodemographic factors and quality of antenatal care received...
May 25, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28545272/-prenatal-diagnosis-for-congenital-nephritic-syndrome-finnish-type-a-case-report
#16
X L Zhu, B Han, X W Feng
No abstract text is available yet for this article.
May 25, 2017: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/28545266/-analysis-of-misssed-diagnosis-and-misdiagnosis-of-1-212-cases-with-placental-abruption
#17
D Xu, C Liang, J W Xu, J He
Objective: To investigate the risk factors and clinical manifestations of placental abruption, and to analyze the causes of missed diagnosis and misdiagnosis. Methods: A retrospective analysis was conducted in 135 584 women who delivered in Women's Hospital, School of Medicine, Zhejiang University from January 2005 to December 2015. The diagnosis of placental abruption was made in 1 212 cases. According to the consistency of prenatal and postnatal diagnosis, they were divided into 3 groups. (1) The diagnosis was consistent prenatally and postnatally in 715 cases(58...
May 25, 2017: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/28545161/classic-galactosemia-study-on-the-late-prenatal-development-of-galt-specific-activity-in-a-sheep-model
#18
Ana I Coelho, Jörgen Bierau, Martijn Lindhout, Jelle Achten, Boris W Kramer, M Estela Rubio-Gozalbo
BACKGROUND: Classic galactosemia results from deficient activity of galactose-1-phosphate uridylyltransferase (GALT), a key enzyme of galactose metabolism. Despite early diagnosis and early postnatal therapeutic intervention, patients still develop neurologic and fertility impairments. Prenatal developmental toxicity has been hypothesized as a determinant factor of disease. In order to shed light on the importance of prenatal GALT activity, several studies have examined GALT activity throughout development...
May 25, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28545153/polyphenols-and-iugr-pregnancies-maternal-hydroxytyrosol-supplementation-improves-prenatal-and-early-postnatal-growth-and-metabolism-of-the-offspring
#19
Marta Vazquez-Gomez, Consolación Garcia-Contreras, Laura Torres-Rovira, José Luis Pesantez, Pedro Gonzalez-Añover, Ernesto Gomez-Fidalgo, Raúl Sanchez-Sanchez, Cristina Ovilo, Beatriz Isabel, Susana Astiz, Antonio Gonzalez-Bulnes
Hydroxytyrosol is a polyphenol with antioxidant, metabolism-regulatory, anti-inflammatory and immuno-modulatory properties. The present study aimed to determine whether supplementing the maternal diet with hydroxytyrosol during pregnancy can improve pre- and early post-natal developmental patterns and metabolic traits of the offspring. Experiment was performed in Iberian sows fed a restricted diet in order to increase the risk of IUGR. Ten sows were treated daily with 1.5 mg of hydroxytyrosol per kg of feed between Day 35 of pregnancy (30% of total gestational period) until delivery whilst 10 animals were left untreated as controls...
2017: PloS One
https://www.readbyqxmd.com/read/28545044/differentiation-of-spontaneously-contracting-cardiomyocytes-from-non-virally-reprogrammed-human-amniotic-fluid-stem-cells
#20
Aaron J Velasquez-Mao, Christopher J M Tsao, Madeline N Monroe, Xavier Legras, Beatrice Bissig-Choisat, Karl-Dimiter Bissig, Rodrigo Ruano, Jeffrey G Jacot
Congenital heart defects are the most common birth defect. The limiting factor in tissue engineering repair strategies is an autologous source of functional cardiomyocytes. Amniotic fluid contains an ideal cell source for prenatal harvest and use in correction of congenital heart defects. This study aims to investigate the potential of amniotic fluid-derived stem cells (AFSC) to undergo non-viral reprogramming into induced pluripotent stem cells (iPSC) followed by growth-factor-free differentiation into functional cardiomyocytes...
2017: PloS One
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