Medicine and Health Sciences Commons^™

De Novo Frameshift Mutation In Asxl3 In A Patient With Global Developmental Delay, Microcephaly, And Craniofacial Anomalies., Darrell L. Dinwiddie, Sarah E. Soden, Carol J. Saunders, Neil A. Miller, Emily G. Farrow, Laurie D. Smith, Stephen F. Kingsmore

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Currently, diagnosis of affected individuals with rare genetic disorders can be lengthy and costly, resulting in a diagnostic odyssey and in many patients a definitive molecular diagnosis is never achieved despite extensive clinical investigation. The recent advent and use of genomic medicine has resulted in a paradigm shift in the clinical molecular genetics of rare diseases and has provided insight into the causes of numerous rare genetic conditions. In particular, whole exome and genome sequencing of families has been particularly useful in discovering de novo germline mutations as the cause of both rare diseases and complex disorders.

CASE PRESENTATION: …

Aspirin And Low-Molecular Weight Heparin Combination Therapy Effectively Prevents Recurrent Miscarriage In Hyperhomocysteinemic Women., Pratip Chakraborty, Sayani Banerjee, Piyali Saha, Shyam Sundar Nandi, Sunita Sharma, Sourendra K. Goswami, Baidyanath Chakravarty, Syed N. Kabir

Journal Articles: Cellular & Integrative Physiology

The management of recurrent pregnancy loss (RPL) still remains a great challenge, and women with polycystic ovarian syndrome (PCOS) are at a greater risk for spontaneous abortion. Treatment with low-molecular-weight heparin (LMWH) has become an accepted treatment option for women with RPL; however, the subgroup of women, who are likely to respond to LMWH, has not been precisely identified. The present study evaluated the efficacy of LMWH with reference to PCOS and associated metabolic phenotypes including hyperhomocysteinemia (HHcy), insulin resistance (IR) and obesity. This prospective observational study was conducted at Institute of Reproductive Medicine, Kolkata, India. A total of 967 …

Patterning In Placental 11-B Hydroxysteroid Dehydrogenase Methylation According To Prenatal Socioeconomic Adversity, Allison A. Appleton, David A. Armstrong, Corina Lesseur, Joyce Lee, James F. Padbury, Barry M. Lester

Dartmouth Scholarship

Background:

Prenatal socioeconomic adversity as an intrauterine exposure is associated with a range of perinatal outcomes although the explanatory mechanisms are not well understood. The development of the fetus can be shaped by the intrauterine environment through alterations in the function of the placenta. In the placenta, the HSD11B2 gene encodes the 11-beta hydroxysteroid dehydrogenase enzyme, which is responsible for the inactivation of maternal cortisol thereby protecting the developing fetus from this exposure. This gene is regulated by DNA methylation, and this methylation and the expression it controls has been shown to be susceptible to a variety of stressors from …

Stress-Inducible Phosphoprotein 1 Has Unique Cochaperone Activity During Development And Regulates Cellular Response To Ischemia Via The Prion Protein., Flavio H Beraldo, Iaci N Soares, Daniela F Goncalves, Jue Fan, Anu A Thomas, Tiago G Santos, Amro H Mohammad, Martin Roffé, Michele D Calder, Simona Nikolova, Glaucia N Hajj, Andre L Guimaraes, Andre R Massensini, Ian Welch, Dean H Betts, Robert Gros, Maria Drangova, Andrew J Watson, Robert Bartha, Vania F Prado, Vilma R Martins, Marco A M Prado

Obstetrics & Gynaecology Publications

Stress-inducible phosphoprotein 1 (STI1) is part of the chaperone machinery, but it also functions as an extracellular ligand for the prion protein. However, the physiological relevance of these STI1 activities in vivo is unknown. Here, we show that in the absence of embryonic STI1, several Hsp90 client proteins are decreased by 50%, although Hsp90 levels are unaffected. Mutant STI1 mice showed increased caspase-3 activation and 50% impairment in cellular proliferation. Moreover, placental disruption and lack of cellular viability were linked to embryonic death by E10.5 in STI1-mutant mice. Rescue of embryonic lethality in these mutants, by transgenic expression of the …

Association Between Elevated Third Trimester Maternal Haemoglobin And Neonatal Gestational Age Adjusted Birth Weight, Bob Otieno Achila

Master of Medicine in Obstetrics and Gynecology

Background: Women tend to have lower haemoglobin compared to men due to menstrual blood losses. This is often compounded by nutritional deficiencies. There is a further drop in haemoglobin during pregnancy due to red cell dilution. Pregnancy itself places a huge demand on maternal iron stores. High haemoglobin may reflect haemoconcentration due to a failure of the normal physiological expansion in plasma volume. Iron excess has also been associated with free-radical damage. In current practice, high maternal haemoglobin in pregnancy is often not given as much attention as anaemia. This study examines the association between high maternal haemoglobin in the …

Maternal Genital Tract Colonisation By Group-B Streptococcus: A Hospital Based Study, Nida Najmi, Rozina Sikandar, Nadeem F. Zuberi, Imtiaz Jehan

Department of Obstetrics & Gynaecology

Objectives: To determine the prevalence of Group B Streptococcus genital tract infection in pregnant women and to determine the risk factors for its colonisation.
Methods: The cross-sectional study was conducted at the Aga Khan University Hospital, Karachi and Sobhraj Hospital, Karachi, from May to August 2007. Pregnant women at 35-37 weeks gestation attending antenatal clinic at these hospitals constituted the study population. Based on stratified sampling, 405 patients were recruited. High vaginal swabs of these patients were taken in order to calculate the prevalence of infection at each hospital. Logistic regression was used to evaluate the risk factor association. SPSS …

Immune Dysregulation And Glucocorticoid Resistance In Minority And Low Income Pregnant Women, Elizabeth J. Corwin, Ying Guo, Kathleen Pajer, Nancy Lowe, Donna O. Mccarthy, Sarah Schmiege, Mary Weber, Thaddeus Pace, Brian Stafford

College of Nursing Faculty Research and Publications

Chronic prenatal stress contributes to poor birth outcomes for women and infants. Importantly, poor birth outcomes are most common among minority and low income women. To investigate underlying mechanisms, we tested the hypothesis that chronic stress related to minority or low income status is associated with glucocorticoid resistance as indicated by disruption in the cytokine-glucocorticoid feedback circuit. Home visits were conducted during which 3rd trimester pregnant women completed stress and depression surveys and provided blood for pro- and anti-inflammatory cytokines. Saliva was collected 5 times the preceding day for diurnal cortisol levels. For statistical analyses, women were grouped 3 ways, …

Childbirth Experience Of Chinese Women, Robin Kartchner, Dr. Lynn C. Callister

Journal of Undergraduate Research

Women across the world share in the same biological process of childbirth. However, their experience with childbirth can vary widely depending on their cultural and spiritual background. The quality of care a woman receives during and after her pregnancy is deeply influenced by the understanding of these factors that the nurse brings to their interaction (1). This research built on previous studies of women from other cultures (2) by interviewing Chinese women in China about their childbirth experience.

Differential Dna Methylation In Umbilical Cord Blood Of Infants Exposed To Low Levels Of Arsenic In Utero, Devin C. Koestler, Michele Avissar-Whiting, E. Andres Houseman, Margaret R. Karagas, Carmen J. Marsit

Dartmouth Scholarship

Background: There is increasing epidemiologic evidence that arsenic exposure in utero, even at low levels found throughout much of the world, is associated with adverse reproductive outcomes and may contribute to long-term health effects. Animal models, in vitro studies, and human cancer data suggest that arsenic may induce epigenetic alterations, specifically by altering patterns of DNA methylation.

Objectives: In this study we aimed to identify differences in DNA methylation in cord blood samples of infants with in utero, low-level arsenic exposure.

Methods: DNA methylation of cord-blood derived DNA from 134 infants involved in a prospective birth cohort in …

Fetal Programming And Later Obesity In A Predominantly Latino Wic Population, Eric George Walsh

Loma Linda University Electronic Theses, Dissertations & Projects

Background: In utero stressors may work to program the metabolism of the developing fetus in such a way that predisposes him/her to obesity later on. Studies have shown that breastfeeding is protective against childhood obesity and suggest that after six months the weight gain in breastfed babies slows opposed to formula fed babies who continue with rapid weight gain. This slowing of weight gain has been shown to be protective against adiposity and later life weight gain.

Purpose: This study looks to further explore these findings in a low income Latino population adding mother’s feelings about the pregnancy and the …

Online Healthy Lifestyle Support In The Perinatal Period: What Do Women Want And Do They Use It?, Lydia A. Hearn, Margaret R. Miller, Anna Fletcher

Research outputs 2013

Unhealthy weight gain and retention during pregnancy and postpartum is detrimental to mother and child. Although various barriers limit the capacity for perinatal health care providers (PHCPs) to offer healthy lifestyle counselling, they could guide women to appropriate online resources. This paper presents a project designed to provide online information to promote healthy lifestyles in the perinatal period. Focus groups or interviews were held with 116 perinatal women and 76 PHCPs to determine what online information perinatal women and PHCPs want, in what form, and how best it should be presented. The results indicated that women wanted smartphone applications (apps) …

Promoting Abstinence From Alcohol During Pregnancy: Implications From Formative Research, Kathryn France, Robert Donovan, Nadine Henley, Carol Bower, Elizabeth Elliott, Janet Payne, Heather D'Antoine, Anne Bartu

Research outputs 2013

This research developed messages to promote abstinence from alcohol during pregnancy and identified elements that enhance message persuasiveness. An exploratory phase was conducted in 2009 that comprised four focus groups with 23 women inWestern Australia and elicited beliefs and attitudes on alcohol use during pregnancy and motivations for behavior change. Four television concepts were subsequently developed and appraised in five focus groups with 31 participants using standard advertising pretesting questions. The implications for campaigns addressing prenatal alcohol exposure and further research are noted and limitations discussed. Funding was received from Healthway and the National Health and Medical Research Council.

The Association Between A Medical History Of Depression And Gestational Diabetes In A Large Multi-Ethnic Cohort In The United States, Katherine Bowers, S. Katherine Laughon, Sungduk Kim, Sunni L. Mumford, Jennifer Brite, Michele Kiely, Cuilin Zhang

Publications and Research

Background: Both major depression and gestational diabetes mellitus (GDM) are prevalent among women of reproductive age. Our objective was to determine whether a medical history of depression is related to subsequent development of GDM.

Methods: The Consortium on Safe Labor was a US retrospective cohort study of 228 562 births between 2002 and 2008. Exclusion criteria for the present analysis included multiple gestation pregnancies (n = 5059), pre-existing diabetes (n = 12 771), deliveries(n = 395), site GDM prevalence (

Results: The final analytic population included 121 260 women contributing 128 295 pregnancies, of which 5606 were affected by GDM. …

Perinatal Nicotine Exposure And Programming Of Hie Sensitive Phenotype In Neonatal Rat Brains, Yong Li

Loma Linda University Electronic Theses, Dissertations & Projects

Large epidemiological and animal studies have revealed a clear association of adverse intrauterine environment with the increased risk of metabolic, cardiovascular and neurological diseases. Maternal smoking is the single most widespread perinatal insult in the world and has been associated with adverse pregnancy outcomes for mother, fetus and the newborn. Our study aims to test the hypothesis that perinatal nicotine exposure induces reprogramming of susceptibility to hypoxic ischemic brain injury in the immature brain, focusing on the roles of AT1R and/or AT2R and trying to reveal the underlying epigenetic mechanisms. Therefore, we established two rat models: perinatal nicotine exposure model …

A Discursive Analysis Of A Pregnancy Center: How Pregnant Women Are Encouraged To Develop A Sense Of Self-Worth And Emotional Wellbeing Through The Use Of Rhetoric And Imagery, Jessica Postma

Masters Theses

This study presents and alternative approach to how pregnancy is interpreted in western society and how settings such as a pregnancy center both challenges and reinforces these social standards. The promotion of abstinence, the aversion to abortion, notions of truth and morality, religious narratives, and the standard of care are all integral components to this analysis of pregnancy, language, and culture.

Vitamin D Supplementation Practices During Pregnancy And Infancy Among A Sample Of Muslim Women In Ireland And Saudi Arabia, Imann Khadrawi

Masters

Vitamin D is a steroid hormone, a group of fat-soluble pro-hormones, which encourages the absorption and metabolism of calcium and phosphorous. The requirement for the nutrient is high at particular stages of the lifecycle especially during pregnancy and infancy. Severe vitamin D deficiency during pregnancy may increase the risk of developing preeclampsia and gestational diabetes in pregnancy and rickets in the child. While vitamin D supplementation has been a policy recommendation in Ireland since 2007, at the time of this study, it was not a policy recommendation in Saudi Arabia. The present quantitative cross-sectional survey was conducted to determine the …

Religious Commitment And Depression During Pregnancy, Tifani R. Fletcher, Andrea D. Clements, Lana Mcgrady, Beth A. Bailey

ETSU Faculty Works

Abstract available through the Annals of Behavioral Medicine.

Sickle Cell Disease In Pregnancy: Trend And Pregnancy Outcomes At A Tertiary Hospital In Tanzania, Projestine S. Muganyizi, Hussein Kidanto

Faculty of Health Sciences, East Africa

SCD in pregnancy is associated with increased adverse fetal and maternal outcomes. In Tanzania where the frequency of sickle cell trait is 13% there has been scanty data on SCD in pregnancy. With progressive improvement in childhood survival the burden of SCD in pregnancy will increase. We analyzed all deliveries at Muhimbili National Hospital (MNH) from 1999 to 2011. Fetal and maternal outcomes of SCD deliveries were compared with non-SCD. Data were analyzed using IBM SPSS statistics version 19. Chi square and Fisher Exact tests were used to compare proportions and the independent t-test for continuous data. To predict risks …

Weight Stigma In Maternity Care: Women’S Experiences And Care Providers’ Attitudes, Kate Mulherin, Yvette D. Miller, Fiona Kate Barlow, Phillippa C. Diedrichs, Rachel Thompson

Dartmouth Scholarship

Weight stigma is pervasive in Western society and in healthcare settings, and has a negative impact on victims' psychological and physical health. In the context of an increasing focus on the management of overweight and obese women during and after pregnancy in research and clinical practice, the current studies aimed to examine the presence of weight stigma in maternity care. Addressing previous limitations in the weight stigma literature, this paper quantitatively explores the presence of weight stigma from both patient and care provider perspectives. Study One investigated associations between pre-pregnancy body mass index (BMI) and experiences of maternity care from …

Biomarkers Of Maternal And Fetal Exposure To Organochlorine Pesticides Measured In Pregnant Hispanic Women From Brownsville, Texas, Ken Sexton, Jennifer J Salinas, Thomas J Mcdonald, Rose M Z Gowen, Rebecca P Miller, Joseph B Mccormick, Susan P Fisher-Hoch

Faculty, Staff and Student Publications

Biomarkers of organochlorine pesticides were measured in both venous and umbilical cord blood from 35 pregnant Hispanic women living in Brownsville, Texas, USA. Gas chromatography with an electron capture detector was used to analyze specimens for 30 individual pesticides or their metabolites. Results indicate that blood concentrations were relatively low for most individual compounds, but that high-end (upper 10th percentile) values for total DDT were comparatively high. Although health effects associated with measured blood concentrations are uncertain, there is concern that fetal exposure to low levels of these OC compounds, either individually or in combination, might contribute to subsequent health …

P38 Mapk Regulates Cavitation And Tight Junction Function In The Mouse Blastocyst., Christine E Bell, Andrew J Watson

Obstetrics & Gynaecology Publications

UNLABELLED: Blastocyst formation is essential for implantation and maintenance of pregnancy and is dependent on the expression and coordinated function of a series of proteins involved in establishing and maintaining the trans-trophectoderm ion gradient that enables blastocyst expansion. These consist of Na/K-ATPase, adherens junctions, tight junctions (TJ) and aquaporins (AQP). While their role in supporting blastocyst formation is established, the intracellular signaling pathways that coordinate their function is unclear. The p38 MAPK pathway plays a role in regulating these proteins in other cell types and is required for embryo development at the 8-16 cell stage, but its role has not …

Predictors Of Psychosocial Adaptation To Pregnancy Among Urban African-American Primiparas, Joan M. Visger

Wayne State University Dissertations

Psychosocial adaptation to pregnancy among urban African-American women has not been well-researched. The purpose of this study was to examine predictors of psychosocial adaptation to pregnancy and to explore relationships among socioeconomic status, experiences and frequency of discrimination, personal control beliefs, social support, planned pregnancy, and model of health care among urban African-American primiparas using life course theory and Lederman's model of psychosocial adaptation to pregnancy as the framework.

One hundred and nine women participated in this descriptive, cross-sectional, correlational study. Participants were recruited from three clinical sites that provided care using medical and/or midwifery models of care. Study variables …

Offspring And Maternal Health Benefits Of Exercise During Pregnancy, Lindsay G. Carter

Theses and Dissertations--Nutritional Sciences

Maternal lifestyle and nutrient intake during pregnancy can have long-lasting effects on the health of offspring as well as the mother. This dissertation focuses on the impact of maternal exercise during pregnancy on offspring insulin sensitivity and glucose uptake and the maternal effects of exercise during pregnancy.

The first aim of this dissertation was to investigate if exercise prior to and during pregnancy and nursing would improve glucose uptake and insulin sensitivity in mice and rats. In both mice and rats, it was concluded that maternal exercise could enhance whole-body insulin sensitivity and increase glucose uptake into skeletal muscle and …

Is There Any Effect Of Demographic Features On Development Of Hyperemesis Gravidarum In The Turkish Population?, Zeynep Kamalak, Nermi̇n Köşüş, Aydin Köşüş, Deni̇z Hizli, Ayli̇n Ayrim, Gonca Kurt

Turkish Journal of Medical Sciences

To assess the effect of maternal demographic variables on development of hyperemesis gravidarum (HG) in pregnant Turkish women. Materials and methods: Two hundred consecutive women with HG were defined as the study group, and 200 consecutive pregnant women without any signs or symptoms of HG matched for age, parity, and gestational age were defined as the control group. Personal information, including lifestyle, educational level, occupation, and economic status were obtained via questionnaire. Results: The number of abortions was higher but parity was lower in the HG group. The time interval between 2 pregnancies was significantly shorter in the HG group …

Prevalence Of Vitamin D Deficiency In An Ethnic African Urban Obstetric Population In An Equatorial City Hospital, Raj Hasmukh Dodia

Master of Medicine in Obstetrics and Gynecology

Introduction: Low Vitamin D levels in pregnancy have been associated with an increased risk of gestational diabetes, pre-eclampsia, bacterial vaginosis, preterm birth, disordered fetal skeletal homeostasis, and impaired offspring lung health. As a result, current public health advice in several countries is to universally supplement Vitamin D during pregnancy. Data regarding the Vitamin D levels of the ethnic obstetric population in Kenya are not available; hence recommendations for Vitamin D supplementation have no scientific basis. Objectives of study: This research was carried out to determine the prevalence of deficiency of Vitamin D in ethnic African obstetric patients who had delivered …

Is Bisphenol-A Exposure During Pregnancy Associated With Blood Glucose Levels Or Diagnosis Of Gestational Diabetes?, Candace A. Robledo, Jennifer D. Peck, Julie A. Stoner, Hélène Carabin, Linda Cowan, Holger M. Koch, Jean R. Goodman

School of Medicine Publications

Recent epidemiological studies indicate bisphenol A (BPA), an estrogenic chemical used in production of epoxy, polycarbonate, and plastic may increase risk of insulin resistance and type 2 diabetes. Exposure to BPA during pregnancy may contribute to development of gestational diabetes mellitus (GDM), a precursor to type 2 diabetes in women. This pilot study examined the association between BPA exposure, fasting blood glucose levels (FBG), and GDM diagnosis during pregnancy. Banked urine samples from 22 cases of GDM and 72 controls were analyzed for total (free BPA + conjugates) urinary BPA concentrations (μg/L). FBG levels (mg/dl) were obtained from 1-h 50-g …

Association Between Maternal Ghrelin Levels And Hyperemesis Gravidarum, İkbal Kaygusuz, İlknur İnegöl Gümüş, Melahat Yildirim, Hüsametti̇n Erdamar, Aysel Uysal, Serap Aynur Si̇mavli, Abdullah Ayyildiz, Muhammet Ramazan Yi̇ği̇toğlu

Turkish Journal of Medical Sciences

To investigate serum levels of ghrelin in pregnant women as a potential early marker for hyperemesis gravidarum (HG). Materials and methods: A cross-sectional study was carried out at Fatih University Hospital. Included in the study were 35 women with HG and 31 pregnant women without HG as a control group. The groups were compared in terms of age, gravidity, body mass index (BMI), and fasting serum thyroid-stimulating hormone (TSH) and ghrelin levels. Results: Ghrelin levels of the patients with HG were found to be significantly lower than those in the control group (P = 0.03). No intergroup differences could be …

Is Probiotic Supplementation Effective In Reducing The Incidence Of Atopic Dermatitis In Children Age 3 And Under?, Kristen M. Mclaughlin

PCOM Physician Assistant Studies Student Scholarship

OBJECTIVE: The objective of this selective EBM review is to determine whether or not probiotic supplementation is effective in reducing the incidence of atopic dermatitis in children age 3 and younger.

STUDY DESIGN: Systematic review of three Engligh language primary studies one published in 2009 and the other two in 2010.

DATA SOURCES: Three double blind randomized controlled trials comparing the efficacy of probiotic supplementation for reducing the incidence of atopic dermatitis in children ages 3 and under were found using Cochrane Library EBM and PubMed databases.

OUTCOMES MEASURED: Diagnosis of atopic dermatitis, via a positive …

Does Metformin Use During Pregnancy Effectively Reduce The Rate Of Early Pregnancy Loss In Women With Polycystic Ovary Syndrome?, Inna Prikhodko

PCOM Physician Assistant Studies Student Scholarship

OBJECTIVE: The objective of this selective EBM review is to determine “Does Metformin use during pregnancy effectively reduce the rate of early pregnancy loss in women with polycystic ovary syndrome?”

STUDY DESIGN: This review is based on two primary double-blind, randomized controlled trials and a prospective controlled trial that was not randomized or blinded to evaluate whether metformin, a medication used to manage PCOS, can also prevent early pregnancy loss in women with PCOS.

DATA SOURCES: All articles used were published in English, in peer-reviewed journals, and located through PubMed, OVID and COCHRANE databases..

OUTCOMES MEASURED: …

Does Breastfeeding Offer Protection Against Maternal Depressive Symptomatology? A Prospective Study From Pregnancy To 2 Years After Birth, Jennifer Hahn-Holbrook, Martie G. Haselton, Christine Dunkel Schetter, Laura M. Glynn

Psychology Faculty Articles and Research

Depression is the leading cause of disability in women (Nobel 2005) and is the most prevalent of all childbearing-related illnesses, affecting approximately 13% of women worldwide within the first 12 [...] Mothers who breastfeed typically exhibit lower levels of depressive symptomatology than mothers who do not. However, very few studies have investigated the directionality of this relationship. Of the prospective studies published, all but one focus exclusively on whether maternal depression reduces rates of subsequent breastfeeding. This study again examines this relationship, but also the reverse--that breastfeeding might predict lower levels of later depression. Using multilevel modeling, we investigated the …