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 …

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 …

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 …

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 …

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 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 …

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 …