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Articles 1741 - 1770 of 2201

Full-Text Articles in Medicine and Health Sciences

Sleep Disordered Breathing And Pregnancy: Prevalence And Outcomes At Delivery, Ryan Lyle Nations Dec 2015

Sleep Disordered Breathing And Pregnancy: Prevalence And Outcomes At Delivery, Ryan Lyle Nations

Dissertations

Introduction
Sleep Disordered Breathing (SDB) during pregnancy is associated with maternal and neonatal morbidity, and in-hospital mortality. A recent prevalence study using the Nationwide Inpatient Sample reported an obstructive sleep apnea (OSA) prevalence of 7.3 per 10,000 in 2013, a rate of 24% per year over the last decade. The rise in prevalence mirrors the rise in obesity. Military Treatment Facilities (MTF) have seen an increase in obesity and related co-morbidities with an unknown prevalence of SDB. Most studies have been conducted in high-risk populations; the general prevalence of SDB and its association with adverse pregnancy outcomes in a military …


Bed Rest And Its Continued Use In Women With High-Risk Pregnancy: A Review Of Literature, Irene De Los Reyes Dec 2015

Bed Rest And Its Continued Use In Women With High-Risk Pregnancy: A Review Of Literature, Irene De Los Reyes

Senior Theses

Bed rest is defined as confinement to bed and restriction of activity. In the clinical setting bed rest includes strict bed rest, strict bed rest in Trendelenburg position, bed rest with bathroom privileges, and up ad lib (Irion, Irion, Lewis & Giglio, 2012). Bed rest has been the standard treatment for over the past 30 years in preventing preterm birth and complications arising from high-risk pregnancy despite the lack of evidence to support its safety and effectiveness for the mother and fetus (Maloni, 2010). The purpose of this literature review and critique is to provide information about the adverse physiologic …


Associations Of Perfluoroalkyl Substances (Pfass) With Lower Birth Weight: An Evaluation Of Potential Confounding By Glomerular Filtration Rate Using A Physiologically Based Pharmacokinetic Model (Pbpk), Marc-André Verner, Anne E. Loccisano, Nils-Halvdan Morken, Miyoung Yoon, Huali Wu, Robin Mcdougall, Mildred Maisonet, Michele Marcus, Reiko Kishi, Chihiro Miyashita, Mei-Huei Chen, Wu-Shiun Hsieh, Melvin E. Andersen, Harvey J. Clewell Iii, Matthew P. Longnecker Dec 2015

Associations Of Perfluoroalkyl Substances (Pfass) With Lower Birth Weight: An Evaluation Of Potential Confounding By Glomerular Filtration Rate Using A Physiologically Based Pharmacokinetic Model (Pbpk), Marc-André Verner, Anne E. Loccisano, Nils-Halvdan Morken, Miyoung Yoon, Huali Wu, Robin Mcdougall, Mildred Maisonet, Michele Marcus, Reiko Kishi, Chihiro Miyashita, Mei-Huei Chen, Wu-Shiun Hsieh, Melvin E. Andersen, Harvey J. Clewell Iii, Matthew P. Longnecker

ETSU Faculty Works

Background: Prenatal exposure to perfluoroalkyl substances (PFAS) has been associated with lower birth weight in epidemiologic studies. This association could be attributable to glomerular filtration rate (GFR), which is related to PFAS concentration and birth weight.

Objectives: We used a physiologically based pharmacokinetic (PBPK) model of pregnancy to assess how much of the PFAS–birth weight association observed in epidemiologic studies might be attributable to GFR.

Methods: We modified a PBPK model to reflect the association of GFR with birth weight (estimated from three studies of GFR and birth weight) and used it to simulate PFAS concentrations in maternal and cord …


Fibronectin Signals Through Integrin Α5Β1 To Regulate Cardiovascular Development In A Cell Type-Specific Manner., Dongying Chen, Xia Wang, Dong Liang, Julie Gordon, Ashok Mittal, Nancy Manley, Karl Degenhardt, Sophie Astrof Nov 2015

Fibronectin Signals Through Integrin Α5Β1 To Regulate Cardiovascular Development In A Cell Type-Specific Manner., Dongying Chen, Xia Wang, Dong Liang, Julie Gordon, Ashok Mittal, Nancy Manley, Karl Degenhardt, Sophie Astrof

Department of Medicine Faculty Papers

Fibronectin (Fn1) is an evolutionarily conserved extracellular matrix glycoprotein essential for embryonic development. Global deletion of Fn1 leads to mid-gestation lethality from cardiovascular defects. However, severe morphogenetic defects that occur early in embryogenesis in these embryos precluded assigning a direct role for Fn1 in cardiovascular development. We noticed that Fn1 is expressed in strikingly non-uniform patterns during mouse embryogenesis, and that its expression is particularly enriched in the pharyngeal region corresponding with the pharyngeal arches 3, 4, and 6. This region bears a special importance for the developing cardiovascular system, and we hypothesized that the localized enrichment of Fn1 in …


Anticipated And Unanticipated Complications Of Severe Dengue In A Primigravida, Madiha Hashmi, Ghulam Zainab, Farah Khan Nov 2015

Anticipated And Unanticipated Complications Of Severe Dengue In A Primigravida, Madiha Hashmi, Ghulam Zainab, Farah Khan

Department of Obstetrics & Gynaecology

As the incidence of dengue is rising among adults more cases of dengue fever are being reported during pregnancy. Physiological changes of pregnancy mask the pathognomonic features of severe dengue such as increased hematocrit, thrombocytopenia, and leukopenia and a high index of suspicion are required in endemic areas. Massive hemorrhage may complicate operative deliveries in unsuspected patients. World Health Organization recommends that all patients with severe dengue should be admitted to a hospital with access to intensive care facilities and blood transfusion. We present the successful management of hemorrhage and unanticipated complications of severe dengue in a young primigravida admitted …


Disaster Preparedness Education And Resource Needs For Pregnant And Post-Partum Families, Ellen A. Erickson Bonner Nov 2015

Disaster Preparedness Education And Resource Needs For Pregnant And Post-Partum Families, Ellen A. Erickson Bonner

Nursing Theses and Dissertations

Hurricane Katrina in 2005 heightened awareness of the need to educate vulnerable populations on disaster preparedness. However, little has been written specifically on the preparedness needs of the pregnant and post-partum families. Only one article explores disaster preparedness education for this population. To fill this gap. An interprofessional sample (n=115) rated the relevance of the educational topics and birthing kit items proposed by the panel from the previous Delphi study. The education topics were reduced to four themes that explained 66.80% of the variance and the birthing kit items were reduced to six themes that explained 70.99% of the variance.


Pregnancy Induced Microangiopathy, Hellp Or Ttp!, Ahmed Amro, Md, Alaa Gabi, Md, Zeid J. Khitan, Md Oct 2015

Pregnancy Induced Microangiopathy, Hellp Or Ttp!, Ahmed Amro, Md, Alaa Gabi, Md, Zeid J. Khitan, Md

Marshall Journal of Medicine

Introduction: Thrombotic thrombocytopenic purpura (TTP) in pregnancy is rare and can be fatal if misdiagnosed.Typically patients present with microangiopathic hemolytic anemia, thrombocytopenia, Altered mental status, fever, and renal abnormalities

Case Description:

We are presenting a case of 26 year old pregnant female presented with elevated BP. She had scattered Bruises in her legs, thighs and arms along with +2 bilateral pitting leg edema. Initial and subsequent laboratory studies showed features of microangiopathic hemolytic anemia (MAHA), which brought up the suspicion of HELLP (hemolysis, elevated liver enzymes, low platelets )syndrome initially. Labor was induced after transfusion of 2 units of PRBCs …


Genestation 1.0: A Synthetic Resource Of Diverse Evolutionary And Functional Genomic Data For Studying The Evolution Of Pregnancy-Associated Tissues And Phenotypes, Mara Kim, Brian A. Cooper, Rohit Venkat, Julie B. Phillips, Haley R. Eidem, Jibril Hirbo, Sashank Nutakki, Scott M. Williams, Louis J. Muglia, J. Anthony Capra, Kenneth Petren, Patrick Abbot, Antonis Rokas, Kriston L. Mcgary Oct 2015

Genestation 1.0: A Synthetic Resource Of Diverse Evolutionary And Functional Genomic Data For Studying The Evolution Of Pregnancy-Associated Tissues And Phenotypes, Mara Kim, Brian A. Cooper, Rohit Venkat, Julie B. Phillips, Haley R. Eidem, Jibril Hirbo, Sashank Nutakki, Scott M. Williams, Louis J. Muglia, J. Anthony Capra, Kenneth Petren, Patrick Abbot, Antonis Rokas, Kriston L. Mcgary

Dartmouth Scholarship

Mammalian gestation and pregnancy are fast evolving processes that involve the interaction of the fetal, maternal and paternal genomes. Version 1.0 of the GEneSTATION database (http://genestation.org) integrates diverse types of omics data across mammals to advance understanding of the genetic basis of gestation and pregnancy-associated phenotypes and to accelerate the translation of discoveries from model organisms to humans. GEneSTATION is built using tools from the Generic Model Organism Database project, including the biology-aware database CHADO, new tools for rapid data integration, and algorithms that streamline synthesis and user access. GEneSTATION contains curated life history information on pregnancy and …


Laparoscopic-Assisted Percutaneous Endoscopic Gastrostomy Tube Insertion In The Immediate Post-Partum Period For Head And Neck Cancer, Adil Aijaz Shah, Shabbir Akhtar, Nadeem Zuberi, Kamran Ali, Dania Aijaz Shah, Amir Hafeez Shariff Oct 2015

Laparoscopic-Assisted Percutaneous Endoscopic Gastrostomy Tube Insertion In The Immediate Post-Partum Period For Head And Neck Cancer, Adil Aijaz Shah, Shabbir Akhtar, Nadeem Zuberi, Kamran Ali, Dania Aijaz Shah, Amir Hafeez Shariff

Department of Surgery Docs

Abstract

Percutaneous endoscopic gastrostomy (PEG) tube placement serves as a well-tolerated and efficacious technique for long-term enteral access in patients with medical conditions precluding oral food intake. The nutritional optimisation of patients with oral cancer is mostly achieved via PEG tube placement. However, certain special situations, such as pregnancy and the immediatepost-partum period, may render the placement of PEG tubes to be a challenge. A 28-year-old pregnant female patient presented to us with the diagnosis of squamous cell carcinoma of the tongue during her third trimester. Definitive surgical resection was planned post-delivery along with simultaneous PEG tube placement. Immediately following …


Blood Pressure Changes In Relation To Arsenic Exposure In A U.S. Pregnancy Cohort, Shohreh F. Farzan, Yu Chen, Fen Wu, Jieying Jiang, Mengling Liu, Emily Baker, Susan A. Korrick, Margaret R. Karagas Oct 2015

Blood Pressure Changes In Relation To Arsenic Exposure In A U.S. Pregnancy Cohort, Shohreh F. Farzan, Yu Chen, Fen Wu, Jieying Jiang, Mengling Liu, Emily Baker, Susan A. Korrick, Margaret R. Karagas

Dartmouth Scholarship

Background:

Inorganic arsenic exposure has been related to the risk of increased blood pressure based largely on cross-sectional studies conducted in highly exposed populations. Pregnancy is a period of particular vulnerability to environmental insults. However, little is known about the cardiovascular impacts of arsenic exposure during pregnancy.

Objectives:

We evaluated the association between prenatal arsenic exposure and maternal blood pressure over the course of pregnancy in a U.S. population.

Methods:

The New Hampshire Birth Cohort Study is an ongoing prospective cohort study in which > 10% of participant household wells exceed the arsenic maximum contaminant level of 10 μg/L established by …


Down Syndrome With Complete Atrioventricular Septal Defect, Hypertrophic Cardiomyopathy, And Pulmonary Vein Stenosis, Guruprasad Mahadevaiah, Manoj Gupta, Ravi Ashwath Oct 2015

Down Syndrome With Complete Atrioventricular Septal Defect, Hypertrophic Cardiomyopathy, And Pulmonary Vein Stenosis, Guruprasad Mahadevaiah, Manoj Gupta, Ravi Ashwath

The Texas Heart Institute Journal

The prevalence of congenital heart disease in infants with Down syndrome is 40%, compared with 0.3% in children who have normal chromosomes. Atrioventricular and ventricular septal defects are often associated with chromosomal aberrations, such as in trisomy 21, whereas hypertrophic cardiomyopathy is chiefly thought to be secondary to specific gene mutations. We found only one reported case of congenital hypertrophic cardiomyopathy and atrioventricular septal defect in an infant with Down syndrome. Here, we report atrioventricular septal defect, hypertrophic cardiomyopathy, and pulmonary vein stenosis in a neonate with Down syndrome-an apparently unique combination. In addition, we discuss the relevant medical literature.


Intra-Individual Consistency In Endocrine Profiles Across Successive Pregnancies, Molly Fox, Curt A. Sandman, Elyssia Poggi Davis, Laura M. Glynn Oct 2015

Intra-Individual Consistency In Endocrine Profiles Across Successive Pregnancies, Molly Fox, Curt A. Sandman, Elyssia Poggi Davis, Laura M. Glynn

Psychology Faculty Articles and Research

Context: It is yet unknown how similar women’s hormone levels are during successive pregnancies, and very little is known about the degree to which siblings experience similar prenatal environments. Given the importance of understanding how women’s reproductive life-histories exert cumulative effects on health via hormone exposure, and the importance of understanding how fetal programming via endocrine signaling affects sibling trait concordance, here we address this important lacuna in the literature.

Objective: To investigate how consistent are women’s hormone profiles across two successive pregnancies.

Design and Main Outcome Measures: This longitudinal, prospective study followed a cohort of 28 …


Maternal Psychiatric Disease And Epigenetic Evidence Suggest A Common Biology For Poor Fetal Growth, Timothy H. Ciesielski, Carmen J. Marsit, Scott M. Williams Aug 2015

Maternal Psychiatric Disease And Epigenetic Evidence Suggest A Common Biology For Poor Fetal Growth, Timothy H. Ciesielski, Carmen J. Marsit, Scott M. Williams

Dartmouth Scholarship

We sought to identify and characterize predictors of poor fetal growth among variables extracted from perinatal medical records to gain insight into potential etiologic mechanisms. In this process we reevaluated a previously observed association between poor fetal growth and maternal psychiatric disease. We evaluated 449 deliveries of >36 weeks gestation that occurred between 9/2008 and 9/2010 at the Women and Infants Hospital in Providence Rhode Island. This study group was oversampled for Small-for-Gestational-Age (SGA) infants and excluded Large-for-Gestational-Age (LGA) infants. We assessed the associations between recorded clinical variables and impaired fetal growth: SGA or Intrauterine Growth Restriction (IUGR) diagnosis. After …


Pandemic Of Pregnant Obese Women: Is It Time To Re-Evaluate Antenatal Weight Loss?, Anne Davis Aug 2015

Pandemic Of Pregnant Obese Women: Is It Time To Re-Evaluate Antenatal Weight Loss?, Anne Davis

Nutrition Sciences Faculty Publications

The obesity pandemic will afflict future generations without successful prevention, intervention and management. Attention to reducing obesity before, during and after pregnancy is essential for mothers and their offspring. Preconception weight loss is difficult given that many pregnancies are unplanned. Interventions aimed at limiting gestational weight gain have produced minimal maternal and infant outcomes. Therefore, increased research to develop evidence-based clinical practice is needed to adequately care for obese pregnant women especially during antenatal care. This review evaluates the current evidence of obesity interventions during pregnancy various including weight loss for safety and efficacy. Recommendations are provided with the end …


Successful Use Of Therapeutic Hypothermia In A Pregnant Patient, Kevin N Oguayo, Ola O Oyetayo, David Stewart, Steven M Costa, Richard O Jones Aug 2015

Successful Use Of Therapeutic Hypothermia In A Pregnant Patient, Kevin N Oguayo, Ola O Oyetayo, David Stewart, Steven M Costa, Richard O Jones

The Texas Heart Institute Journal

Out-of-hospital cardiac arrest is a leading cause of death in the United States. Pregnant women are not immune to cardiac arrest, and the treatment of such patients can be difficult. Pregnancy is a relative contraindication to the use of therapeutic hypothermia after cardiac arrest.

A 20-year-old woman who was 18 weeks pregnant had an out-of-hospital cardiac arrest. Upon her arrival at the emergency department, she was resuscitated and her circulation returned spontaneously, but her score on the Glasgow Coma Scale was 3. After adequate family discussion of the risks and benefits of therapeutic hypothermia, a decision was made to initiate …


Sle And Pregnancy, Patricia Graham Jul 2015

Sle And Pregnancy, Patricia Graham

Nursing Student Class Projects (Formerly MSN)

Systemic lupus erythematosus (SLE) is a life-long, life-threatening autoimmune disease which can affect any organ in the body (Marks & Tullus, 2011). SLE disproportionately affects women in a ratio of 9:1 compared to men with most women being affected during child-bearing age (15-50 years) (Ferenkeh-Koroma, 2012). Pregnancy represents a challenge for the patient with SLE. Pregnant patients with SLE are considered high-risk for multiple medical and obstetric complications, as flares are related to increased irreversible organ damage (Ateka- Barrutia & Khamashta, 2013). Severe flares are also associated with poor fetal outcomes (Peart & Clowse, 2014). Successful pregnancies happen in 67% …


Fetal, Neonatal, Infant, And Child International Growth Standards: An Unprecedented Opportunity For An Integrated Approach To Assess Growth And Development., Cutberto Garza Jul 2015

Fetal, Neonatal, Infant, And Child International Growth Standards: An Unprecedented Opportunity For An Integrated Approach To Assess Growth And Development., Cutberto Garza

Global Health Faculty Publications

The recent publication of fetal growth and gestational age-specific growth standards by the International Fetal and Newborn Growth Consortium for the 21st Century Project and the previous publication by the WHO of infant and young child growth standards based on the WHO Multicentre Growth Reference Study enable evaluations of growth from ∼9 wk gestation to 5 y. The most important features of these projects are the prescriptive approach used for subject selection and the rigorous testing of the assertion that growth is very similar among geographically and ethnically diverse nonisolated populations when health, nutrition, and other care needs are met …


Pregnancy Apps: A Closer Look At The Implications For Childbirth Educators, Christine Frazer, Leslie Hussey, Emily Bosch, Michelle Squire Jul 2015

Pregnancy Apps: A Closer Look At The Implications For Childbirth Educators, Christine Frazer, Leslie Hussey, Emily Bosch, Michelle Squire

Walden Faculty and Staff Publications

Most pregnant women download an average of three pregnancy apps during their gestational period. There are no set standards in place for what needs to be included in an app’s description leaving consumers to decide for themselves when it comes to selecting the right app to download. The childbirth educator must be knowledgeable about pregnancy apps, in-tune as to what apps their clientele download, and how to analyze them for credibility. This article presents characteristics associated with women of childbearing age (i.e. Millennial/Net generation); the reasons why pregnant women are turning to apps; the limitations of apps, and the childbirth …


Placental Dna Methylation Related To Both Infant Toenail Mercury And Adverse Neurobehavioral Outcomes, Jennifer Zeynab Joukhadar Maccani, Devin C. Koestler, Barry Lester, E Andres Houseman, David A. Armstrong, Karl T. Kelsey, Carmen J. Marsit Jul 2015

Placental Dna Methylation Related To Both Infant Toenail Mercury And Adverse Neurobehavioral Outcomes, Jennifer Zeynab Joukhadar Maccani, Devin C. Koestler, Barry Lester, E Andres Houseman, David A. Armstrong, Karl T. Kelsey, Carmen J. Marsit

Dartmouth Scholarship

Background:

Prenatal mercury (Hg) exposure is associated with adverse child neurobehavioral outcomes. Because Hg can interfere with placental functioning and cross the placenta to target the fetal brain, prenatal Hg exposure can inhibit fetal growth and development directly and indirectly.

Objectives:

We examined potential associations between prenatal Hg exposure assessed through infant toenail Hg, placental DNA methylation changes, and newborn neurobehavioral outcomes.

Methods:

The methylation status of > 485,000 CpG loci was interrogated in 192 placental samples using Illumina’s Infinium HumanMethylation450 BeadArray. Hg concentrations were analyzed in toenail clippings from a subset of 41 infants; neurobehavior was assessed using the NICU …


Discovering Self: Childbearing Adolescents' Maternal Identity, Janelle L. B. Macintosh, Lynn Clark Callister Jul 2015

Discovering Self: Childbearing Adolescents' Maternal Identity, Janelle L. B. Macintosh, Lynn Clark Callister

Faculty Publications

Purpose: Adolescent pregnancy and motherhood have long been a topic of interest for many healthcare professionals. However, there are limited data on how childbearing adolescents incorporate motherhood identity into their sense of self. The purpose of this study was to explore how childbearing adolescents perceive motherhood as becoming part of their personal identity.

Study Design: This qualitative study using ethnographic data collection involved 7 months of observation, interaction, and interviews.

Methods: Data were collected from nine expectant adolescents during in-depth interviews. All participants were patients at a teen mother and child clinic staffed by certified nurse midwives and a pediatrician. …


Does Maternal Asthma Contribute To Racial/Ethnic Disparities In Obstetric And Neonatal Complications?, Katrina F. Flores, Candace Robledo, Beom Seuk Hwang, Kira Leishear, Katherine Grantz, Pauline Mendola Jun 2015

Does Maternal Asthma Contribute To Racial/Ethnic Disparities In Obstetric And Neonatal Complications?, Katrina F. Flores, Candace Robledo, Beom Seuk Hwang, Kira Leishear, Katherine Grantz, Pauline Mendola

School of Medicine Publications

Purpose

Examine whether maternal asthma contributes to racial/ethnic differences in obstetric and neonatal complications.

Methods

Data on White (n=110,603), Black (n=50,284) and Hispanic (n=38,831) singleton deliveries came from the Consortium on Safe Labor. Multi-level logistic regression models, with an interaction term for asthma and race/ethnicity, estimated within-group adjusted odds ratios (aOR) for gestational diabetes, gestational hypertension, preeclampsia, placental abruption, premature rupture of membranes, preterm delivery, maternal hemorrhage, NICU admissions, small for gestational age (SGA), apnea, respiratory distress syndrome, transient tachypnea of the newborn, anemia and hyperbilirubinemia after adjustment for clinical and demographic confounders. Non-asthmatics of the same racial/ethnic group were …


Which Role Do Midwives And Gynecologists Have In Smoking Cessation In Pregnant Women?–A Study In Flanders, Belgium, Katrien De Wilde, Inge Tency, Sarah Steckel, Marleen Temmerman, Hedwig Boudrez, Lea Maes Jun 2015

Which Role Do Midwives And Gynecologists Have In Smoking Cessation In Pregnant Women?–A Study In Flanders, Belgium, Katrien De Wilde, Inge Tency, Sarah Steckel, Marleen Temmerman, Hedwig Boudrez, Lea Maes

Obstetrics and Gynaecology, East Africa

Objectives: The objectives of our study were (1) to explore knowledge, beliefs and practice among mid-wives and gynecologists concerning a smoking cessation policy for pregnant women and their partners and (2) to examine if midwives and gynecologists do have a role in smoking cessation in pregnant women.

Method: We performed a qualitative study using semi-structured interviews with nine midwives and eight gynecologists. Data were analyzed using deductive content analysis, based on the 5 A’s frame-work (Ask–Advise–Assess–Assist–Arrange).

Results: The national smoking cessation policy seemed to be insufficiently known. “Ask” and “Advise" were part of a standard prenatal consultation, the next three …


Smoking Cessation In Pregnancy And Gestational Weight Gain In South Carolinian Mothers, 2009-2011, Laquenta Latreese Weldon May 2015

Smoking Cessation In Pregnancy And Gestational Weight Gain In South Carolinian Mothers, 2009-2011, Laquenta Latreese Weldon

Theses and Dissertations

Purpose: To determine if smoking cessation during pregnancy is associated with excessive gestational weight gain (GWG).

Methods: Data came from the 2009-2011 Pregnancy Risk Assessment Monitoring System (PRAMS), an ongoing population-based survey of live births in South Carolina (n=2,603). Participant smoking status was classified as nonsmoker (did not smoke before or during pregnancy), persistent smoker (smoked before and throughout pregnancy), or quitter (smoked before but quit during pregnancy). Multinomial logistic regression model was estimated to examine the association between smoking status and meeting the 2009 Institute of Medicine guidelines, while linear regression model was used for the continuous outcomes such …


A Patient With Polymerase E1 Deficiency (Pole1): Clinical Features And Overlap With Dna Breakage/Instability Syndromes., Isabelle Thiffault, Carol Saunders, Janda Jenkins, Nikita Raje, Kristi Canty, Mukta Sharma, Lauren Grote, Holly I. Welsh, Emily Farrow, Greyson Twist, Neil Miller, David Zwick, Lee Zellmer, Stephen F. Kingsmore, Nicole P. Safina May 2015

A Patient With Polymerase E1 Deficiency (Pole1): Clinical Features And Overlap With Dna Breakage/Instability Syndromes., Isabelle Thiffault, Carol Saunders, Janda Jenkins, Nikita Raje, Kristi Canty, Mukta Sharma, Lauren Grote, Holly I. Welsh, Emily Farrow, Greyson Twist, Neil Miller, David Zwick, Lee Zellmer, Stephen F. Kingsmore, Nicole P. Safina

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage, often leading to immunodeficiency, growth retardation and increased risk of malignancy.

CASE PRESENTATION: We performed exome sequencing on a girl with a suspected chromosome instability syndrome that manifested as growth retardation, microcephaly, developmental delay, dysmorphic features, poikiloderma, immune deficiency with pancytopenia, and myelodysplasia. She was homozygous for a previously reported splice variant, c.4444 + 3A > G in the POLE1 gene, which encodes the catalytic subunit of DNA polymerase E.

CONCLUSION: This is the second family with POLE1-deficency, with the affected individual demonstrating a more …


Maternal Obesity And Incidence Of Depression, Caroline A. Habjan May 2015

Maternal Obesity And Incidence Of Depression, Caroline A. Habjan

Renée Crown University Honors Thesis Projects - All

Obesity is a national epidemic in the United States, which both directly and indirectly affects the social productivity of individuals, the American macro economy and individuals’ personal health and well being. Depression often interferes with an individual’s ability to work, sleep, study, eat, and enjoy life. A maternal state of both obesity and depression may cause serious adverse medical conditions in the mother’s child. Taking steps to treat depression and obesity are critical in the construct of modern medicine. This project yields results that have the potential to make treatment options better tailored, more efficient, effective and economically-sound for the …


Urinary Phthalate Metabolite Concentrations And Blood Glucose Levels During Pregnancy, Candace A. Robledo, Jennifer D. Peck, Julie A. Stoner, Antonia M. Calafat, Hélène Carabin, Linda Cowan, Jean R. Goodman May 2015

Urinary Phthalate Metabolite Concentrations And Blood Glucose Levels During Pregnancy, Candace A. Robledo, Jennifer D. Peck, Julie A. Stoner, Antonia M. Calafat, Hélène Carabin, Linda Cowan, Jean R. Goodman

School of Medicine Publications

Purpose: To examine associations between phthalate metabolite urinary concentrations during early pregnancy and blood glucose levels obtained at the time of screening for gestational diabetes mellitus (GDM).

Methods: Upon initiation of prenatal care, women with a mean gestational age of 12.8 weeks were recruited for a study of environmental chemical exposures (n = 110) and provided a spot urinary specimen. Blood glucose concentrations (mg/dl) were obtained from the electronic medical record for those patients who did not experience a pregnancy loss and did not transfer care to another facility prior to glucose screening (n = 72). Urinary concentrations of nine …


Compensatory Fetal Membrane Mechanisms Between Biglycan And Decorin In Inflammation., Luciana Batalha De Miranda De Araujo, Casie E Horgan, Abraham Aron, Renato V. Iozzo, Beatrice E Lechner May 2015

Compensatory Fetal Membrane Mechanisms Between Biglycan And Decorin In Inflammation., Luciana Batalha De Miranda De Araujo, Casie E Horgan, Abraham Aron, Renato V. Iozzo, Beatrice E Lechner

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Preterm premature rupture of fetal membranes (PPROM) is associated with infection, and is one of the most common causes of preterm birth. Abnormal expression of biglycan and decorin, two extracellular matrix proteoglycans, leads to preterm birth and aberrant fetal membrane morphology and signaling in the mouse. In humans and mice, decorin dysregulation is associated with inflammation in PPROM. We therefore investigated the link between biglycan and decorin and inflammation in fetal membranes using mouse models of intraperitoneal Escherichia coli injections superimposed on genetic biglycan and decorin deficiencies. We assessed outcomes in vivo as well as in vitro using quantitative PCR, …


Urine Proteomics Identifies Preeclampsia Subphenotypes, Michelle R. Axe Apr 2015

Urine Proteomics Identifies Preeclampsia Subphenotypes, Michelle R. Axe

Undergraduate Honors Thesis Projects

Preeclampsia is a perinatal complication of unknown etiology, resulting in 76,000 maternal deaths and 500,000 infant deaths annually1. The Nationwide Children’s Center for Perinatal Research was the first cohort to propose that preeclampsia is rooted in protein misfolding. We aimed to characterize the misfolded protein components of maternal urine samples and to determine if distinct molecular profiles exist for clinical preeclampsia phenotypes. A total of 86 maternal urine samples from Yale-New Haven Hospital were analyzed for this study, from six clinical preeclampsia subphenotypes- pregnant control (n=10), idiopathic proteinuria (n=15), mild preeclampsia (n=14), superimposed preeclampsia (n=12), typical severe preeclampsia …


Mindfulness: Being Present In The Moment, Stephanie Ann Stathas, Christine Frazer Apr 2015

Mindfulness: Being Present In The Moment, Stephanie Ann Stathas, Christine Frazer

Walden Faculty and Staff Publications

This article serves to enlighten childbirth educators’ knowledge about mindfulness and the mother-baby benefits associated with incorporating mindfulness- based interventions into practice. Jon Kabat-Zinn, who developed the Mindfulness Based Stress Reduction program, brought the concept of mindfulness into the world of healthcare and mainstream society. Mindfulness is the practice of bringing awareness to the here and now using a variety of methods. Nancy Bardacke has taken the practice of mindfulness further and developed a program for expecting mothers, known as Mindfulness Based Childbirth and Parenting. This program has been shown to reduce stress responses that may be harmful to a …


Preliminary Analysis Of In Utero Low-Level Arsenic Exposure And Fetal Growth Using Biometric Measurements Extracted From Fetal Ultrasound Reports, Matthew A. Davis, John Higgins, Zhigang Li, Diane Gilbert-Diamond, Emily R. Baker, Amar Das, Margaret R. Karagas Mar 2015

Preliminary Analysis Of In Utero Low-Level Arsenic Exposure And Fetal Growth Using Biometric Measurements Extracted From Fetal Ultrasound Reports, Matthew A. Davis, John Higgins, Zhigang Li, Diane Gilbert-Diamond, Emily R. Baker, Amar Das, Margaret R. Karagas

Dartmouth Scholarship

Background: Early life exposure to arsenic is associated with decreased birth weight in highly exposed populations but little is known about effects of low-level arsenic exposure on growth in utero.

Methods: Using a sample of 272 pregnancies from New Hampshire we obtained biometric measurements directly from fetal ultrasound reports commonly found in electronic medical records. We used information extraction methods to develop and validate an automated approach for mining biometric measurements from the text of clinical reports. As a preliminary analysis, we examined associations between in utero low-level arsenic exposure (as measured by maternal urinary arsenic concentration) and fetal growth …