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Recent Submissions

  • Non-invasive Biomarkers to Detect Acute Kidney Injury in Premature Infants

    Marin, Terri; Williams, Bryan; Bhatia, Jatinda; Sharma, Ashok; Mundy, Cynthia; Cockfield, Christy; College of Nursing; Department of Pediatrics: Neonatology; Department of Population Health Science; Department of Obstetrics and Gynecology; et al.
  • The Identification of Novel Genes in Normosmic Hypogonadotropic Hypogonadism (nHH)

    Smith, Hannah; College of Education; Department of Obstetrics & Gynecology; Layman, Lawrence; Augusta University (2019-02-13)
    Characterized by delayed or absent sexual development, idiopathic hypogonadotropic hypogonadism (IHH) is a disorder that includes the deficient production, secretion, or action of gonadotropin-releasing hormone (GnRH). Producing neurons in the brain, GnRH directly controls sexual development during puberty. Misplacement of the GnRH producing neurons leads to hypogonadotropic hypogonadism, which is divided into two categories: Kallmann syndrome (KS) and normosmic IHH (nHH). While both KS and nIHH, defined as the absence or delay of puberty, low gonadotropins and sex steroids, are similar, KS also includes the absence or impairment of smell. Whole exome sequencing (WES) is used to examine protein-coding regions of the human genome in order to detect genetic variants that could be causative. Sanger sequencing is used to confirm variants identified by WES. Using WES and Sanger sequencing, we were able to identify new genetic variants within the nHH and KS patient populations. In this study, our goal was to identify pathogenic variants in known and novel nHH/KS genes, focusing efforts on rare, loss-of-function variants in: WDR11, GLI2, CTNNA1, ANKHD1, SEMA6A, PRRC2C, EHBP1, and RIF1 genes. This study broadens our understanding of pathogenic variants in known and novel IHH genes that may contribute to the disease phenotype.
  • The Function of NELF and ESR1 in Puberty Development and Fertility

    Quaynor, Samural N. D.; Department of Obstetrics and Gynecology (2013-07)
    Reproductive disorders affect 10-15% of the population in the United States and result in debilitating social and economic issues. Reproductive dysfunction may be displayed as delayed puberty or infertility due to defects in the hypothalamic-pituitary gonadal (HPG) axis. This axis is controlled by gonadotropin releasing hormone (GnRH) through the release of GnRH peptide. An important critical barrier to understanding normal puberty is the lack of known specific genes that regulate the development, migration and function of hypothalamic GnRH neurons, which synthesize and secrete GnRH neuropeptide in a pulsatile pattern into the portal blood. Several human diseases occur as the result of impaired GnRH function. Idiopathic hypogonadotropic hypogonadism (IHH) patients present with decreased gonadotropins and sex steroids leading to permanent delayed of puberty and infertility. Kallmann syndrome (KS) combines IHH phenotypes in addition to anosmia/hyposmia as there is impairment in migration o f GnRH neurons and olfactory neurons/axons. To date, the molecular basis has only been identified for approximately 40% o f all IHH/KS patients. The purpose of this study was to understand the role and function o f genes, such as NELF (nasal embryonic LHRH factor), in pubertal development and fertility. NELF, a nuclear protein isolated from migratory GnRH neurons, has been shown to be involved in the pathogenesis of IHH/KS, and knockdown impairs GnRH neuron migration in vitro. The mechanism o f NELF’s role relevant to GnRH migration/signaling and its effects on pubertal development and fertility are unclear. NELF function has been studied in GnRH cell lines, but not in the whole organism. The overall goals of this study are to characterize the phenotypic features of /Ve/^knockout (KO) mice, classify the prevalence of the different variants of NELF reported, and the inheritance patterns of IHH/KS genes including NELF, and finally examine the phenotype and hormonal profile o f an estrogen receptor-a (ESR1) mutation in a woman. Methods: Following breeding of heterozygous mice to generate homozygous N elf knockout mice, pubertal onset was assessed by daily monitoring of weight, vaginal opening (females), and anogenital distance (males). In addition we determined fertility of the mice by doing a continuous 90 day breeding study. Immunocytochemical labeling o f GnRH neurons was performed and analyzed for migration and count; hematoxylin and eosin stains were performed to visualize gonadal morphology. Three additional studies were also performed: 1) NELF splice variants were studied in immortalized human and mouse GnRH neurons; 2) the prevalence of digenic disease in IHH/KS was determined when the 13 most common genes were sequenced in 48 patients; and 3) the first woman with an estrogen receptor-a (ESR1) mutation was characterized clinically and by in vitro analysis. Results: Female NelfK O mice had delayed puberty, small uteri, and a decrease in GnRH neuron distribution distance, but male KO mice had normal puberty and GnRH neuron distribution distance. Both male and female KO mice had decreased litter size. Furthermore, NELF variant 2 was the dominant variant in both mouse and human GnRH neurons. Both nuclear and non-nuclear splice variants were expressed at the RNA and protein levels. DNA sequencing of 13 genes in 48 IHH/KS patients demonstrated that -90% of the cases are monogenic. Finally, the ESR1 mutation in the female patient led to absent pubertal development as ESR1 signaling is profoundly defective.
  • The Function of NELF and ESR1 in Puberty Development and Fertility

    Quaynor, Samuel Nii Djangmah; Department of Obstetrics and Gynecology (2013-07)
    Reproductive disorders affect 10-15% of the population in the United States and result in debilitating social and economic issues. Reproductive dysfunction may be displayed as delayed puberty or infertility due to defects in the hypothalamic-pituitary gonadal (HPG) axis. This axis is controlled by gonadotropin releasing hormone (GnRH) through the release of GnRH peptide. An important critical barrier to understanding normal puberty is the lack of known specific genes that regulate the development, migration and function of hypothalamic GnRH neurons, which synthesize and secrete GnRH neuropeptide in a pulsatile pattern into the portal blood. Several human diseases occur as the result of impaired GnRH function. Idiopathic hypogonadotropic hypogonadism (IHH) patients present with decreased gonadotropins and sex steroids leading to permanent delayed of puberty and infertility. Kallmann syndrome (KS) combines IHH phenotypes in addition to anosmia/hyposmia as there is impairment in migration o f GnRH neurons and olfactory neurons/axons. To date, the molecular basis has only been identified for approximately 40% o f all IHH/KS patients. The purpose of this study was to understand the role and function o f genes, such as NELF (nasal embryonic LHRH factor), in pubertal development and fertility. NELF, a nuclear protein isolated from migratory GnRH neurons, has been shown to be involved in the pathogenesis of IHH/KS, and knockdown impairs GnRH neuron migration in vitro. The mechanism o f NELF’s role relevant to GnRH migration/signaling and its effects on pubertal development and fertility are unclear. NELF function has been studied in GnRH cell lines, but not in the whole organism. The overall goals of this study are to characterize the phenotypic features of /Ve/^knockout (KO) mice, classify the prevalence of the different variants of NELF reported, and the inheritance patterns of IHH/KS genes including NELF, and finally examine the phenotype and hormonal profile o f an estrogen receptor-a (ESR1) mutation in a woman. Methods: Following breeding of heterozygous mice to generate homozygous N elf knockout mice, pubertal onset was assessed by daily monitoring of weight, vaginal opening (females), and anogenital distance (males). In addition we determined fertility of the mice by doing a continuous 90 day breeding study. Immunocytochemical labeling o f GnRH neurons was performed and analyzed for migration and count; hematoxylin and eosin stains were performed to visualize gonadal morphology. Three additional studies were also performed: 1) NELF splice variants were studied in immortalized human and mouse GnRH neurons; 2) the prevalence of digenic disease in IHH/KS was determined when the 13 most common genes were sequenced in 48 patients; and 3) the first woman with an estrogen receptor-a (ESR1) mutation was characterized clinically and by in vitro analysis. Results: Female NelfK O mice had delayed puberty, small uteri, and a decrease in GnRH neuron distribution distance, but male KO mice had normal puberty and GnRH neuron distribution distance. Both male and female KO mice had decreased litter size. Furthermore, NELF variant 2 was the dominant variant in both mouse and human GnRH neurons. Both nuclear and non-nuclear splice variants were expressed at the RNA and protein levels. DNA sequencing of 13 genes in 48 IHH/KS patients demonstrated that -90% of the cases are monogenic. Finally, the ESR1 mutation in the female patient led to absent pubertal development as ESR1 signaling is profoundly defective.
  • Maternal Health Literacy Progression Among Rural Perinatal Women

    Mobley, Sandra C.; Thomas, Suzanne Dixson; Sutherland, Donald E.; Hudgins, Jodi; Ange, Brittany L.; Johnson, Maribeth H.; Department of Obstetrics and Gynecology (Springer, 2014-01-28)
    This research examined changes in maternal health literacy progression among 106 low income, high risk, rural perinatal African American and White women who received home visits by Registered Nurse Case Managers through the Enterprise Community Healthy Start Program. Maternal health literacy progression would enable women to better address intermediate factors in their lives that impacted birth outcomes, and ultimately infant mortality (Lu and Halfon in Mater Child Health J 7(1):13-30, 2003; Sharma et al. in J Natl Med Assoc 86(11):857-860, 1994). The Life Skills Progression Instrument (LSP) (Wollesen and Peifer, in Life skills progression. An outcome and intervention planning instrument for use with families at risk. Paul H. Brookes Publishing Co., Baltimore, 2006) measured changes in behaviors that represented intermediate factors in birth outcomes. Maternal Health Care Literacy (LSP/M-HCL) was a woman's use of information, critical thinking and health care services; Maternal Self Care Literacy (LSP/M-SCL) was a woman's management of personal and child health at home (Smith and Moore in Health literacy and depression in the context of home visitation. Mater Child Health J, 2011). Adequacy was set at a score of (≥4). Among 106 women in the study initial scores were inadequate (<4) on LSP/M-HCL (83 %), and on LSP/M-SCL (30 %). Significant positive changes were noted in maternal health literacy progression from the initial prenatal assessment to the first (p < .01) postpartum assessment and to the final (p < .01) postpartum assessment using McNemar's test of gain scores. Numeric comparison of first and last gain scores indicated women's scores progressed (LSP/M-HCL; p < .0001) and (LSP/M-SCL; p < .0001). Elevated depression scores were most frequent among women with <4 LSP/M-HCL and/or <4 LSP/M-SCL. Visit notes indicated lack or loss of relationship with the father of the baby and intimate partner discord contributed to higher depression scores.
  • Impact of FTO genotypes on BMI and weight in polycystic ovary syndrome: a systematic review and meta-analysis

    Wojciechowski, P.; Lipowska, A.; Rys, P.; Ewens, Kathryn G.; Franks, Stephen; Tan, S.; Lerchbaum, E.; Vcelak, J.; Attaoua, R.; Straczkowski, M.; et al. (2012-10-18)
    Aims/hypothesis: FTO gene single nucleotide polymorphisms (SNPs) have been shown to be associated with obesity-related traits and type 2 diabetes. Several small studies have suggested a greater than expected effect of the FTO rs9939609 SNP on weight in polycystic ovary syndrome (PCOS). We therefore aimed to examine the impact of FTO genotype on BMI and weight in PCOS.
  • Chlamydia trachomatis infection and risk of cervical intraepithelial neoplasia

    Lehtinen, Matti; Ault, Kevin A; Lyytikainen, Erika; Dillner, Joakim; Garland, Suzanne M; Ferris, Daron G.; Koutsky, Laura A; Sings, Heather L; Lu, Shuang; Haupt, Richard M; et al. (2011-04-62)
    Objectives: High-risk human papillomavirus (hrHPV) is the primary cause of cervical cancer. As Chlamydia trachomatis is also linked to cervical cancer, its role as a potential co-factor in the development of cervical intraepithelial neoplasia (CIN) grade 2 or higher was examined.
  • Novel Pathway of Adipogenesis through Cross-Talk between Adipose Tissue Macrophages, Adipose Stem Cells and Adipocytes: Evidence of Cell Plasticity

    Chazenbalk, Gregorio; Bertolotto, Cristina; Heneidi, Saleh; Jumabay, Medet; Trivax, Bradley; Aronowitz, Joel; Yoshimura, Kotaro; Simmons, Charles F.; Dumesic, Daniel A.; Azziz, Ricardo; et al. (2011-03-31)
    Introduction: Previous studies highlight a complex relationship between lineage and phenotype for adipose tissue macrophages (ATMs), adipose stem cells (ASCs), and adipocytes, suggesting a high degree of plasticity of these cells. In the present study, using a novel co-culture system, we further characterized the interaction between ATMs, ASCs and adipocytes.
  • Lemierre's syndrome complicating pregnancy.

    Thompson, M; Awonuga, A O; Bell, Jason; Ray, C; Awonuga, M T; Helfgott, Andrew; Department of Obstetrics and Gynecology; Department of Pediatrics (2007-08-21)
    Lemierre's syndrome is an anaerobic suppurative thrombophlebitis involving the internal jugular vein secondary to oropharyngeal infection. There is only one previous case report in pregnancy which was complicated by premature delivery of an infant that suffered significant neurological damage. We present an atypical case diagnosed in the second trimester with a live birth at term. By reporting this case, we hope to increase the awareness of obstetricians to the possibility of Lemierre's syndrome when patients present with signs of unabating oropharyngeal infection and pulmonary symptoms.