Obstetrics and Gynecology Commons^™

Non-Isolated Dandy-Walker Malformation: Exome Sequencing Efficacy And Phenotypic Expansions, Sarah Araji, Xiaonan Zhao, Jill A Rosenfeld, Seema R Lalani, Daryl A Scott

Faculty, Staff and Students Publications

Dandy-Walker malformation (DWM) is a rare congenital abnormality of the posterior fossa and the cerebellum and has an incidence of 1 in 10 000 to 30 000 births. Although DWM can present in isolation, it is often associated with other central nervous system (CNS) abnormalities or extra-CNS anomalies (DWM+). A molecular cause is not identified in the majority of individuals with DWM+. This is due, in part, to uncertainty regarding optimal testing strategies and an incomplete understanding of the genetic causes of DWM+. In this study, we analyzed clinical exome sequencing (cES) data from 91 individuals with DWM+ to determine …

Identification Of De Novo Variants From Parent-Proband Duos Via Long-Read Sequencing, Leandros Boukas, Emmanuèle C. Délot, Georgia Pitsava, Christine Lambert, Cairbre Fanslow, Primo Baybayan, Sami Belhadj, Bojan Losic, John Harting, Krista Bluske, Jonathan Lotempio, Huda B. Al-Kouatly, Rachid Karam, William J. Rowell, Changrui Xiao, Eric Vilain, Seth I. Berger

Department of Obstetrics and Gynecology Faculty Papers

While de novo variants cause many Mendelian disorders, their detection currently requires sequencing of the proband and both biological parents. This is not feasible when only one parent is available, a limitation for millions of families. Here, we develop duoNovo, which identifies de novo variants from parent-proband duos using long-read sequencing followed by haplotype reconstruction and detection of identical-by-descent haplotype blocks. We sequenced 104 trios with PacBio HiFi sequencing and applied duoNovo to each of the 208 duos constructed by masking one parent, classifying over 55 million variants according to their de novo status. We evaluated duoNovo's performance against classifications …

Seasonal And Geographic Patterns Of Gastroschisis In Canada: Protective Effect Of Periconceptional Sunlight Exposure, Shiliang Liu, Shin Jie Yong, Dunjin Chen, Gavin C. Hughes, Claude L. Hughes

Department of Medicine Faculty Publications

Background: Gastroschisis is a right-sided, full-thickness defect with extra-amnionic herniation of abdominal contents directly into the amniotic cavity. The causes of gastroschisis remain obscure. We hypothesized that limited periconceptional sunlight exposure might lead to insufficient vitamin D during fetal development and play a role in gastroschisis etiology.

Methods: We conducted a population-based cohort study of infants conceived in Canada between April 2006 and March 2020. We used winter months (i.e., November and December) and northern geographic latitudes as indicators of insufficient sunlight exposure, while summer months (July and August) and southern geographic latitudes were considered as reference. We examined the …

Corrigendum To "Trustworthiness Criteria For Meta-Analyses Of Randomized Controlled Studies: Obgyn Journal Guidelines" [Ejogrb 305 (2025) 416-418], Vincenzo Berghella

Department of Obstetrics and Gynecology Faculty Papers

Participating members of the OBGYN Editors’ Integrity Group (OGEIG) All OGEIG members who participated in meetings discussing the manuscript ‘Trustworthiness criteria for meta-analyses of randomized controlled studies’ are listed here, with their affiliated journal/organization in parentheses: Jason Abbott (J Minim Invasive Gynecol), Ganesh Acharya (Acta Obstet Gynecol Scand), Amir Aviram (Am J Obstet Gynecol MFM), Kurt Barnhart (Fertil Steril), Vincenzo Berghella (Am J Obstet Gynecol MFM), Catherine S. Bradley (Am J Obstet Gynecol), Nancy Chescheir (COPE), Thomas D'Hooghe (Gynecol Obstet Invest), Michael Geary (Int J Gynecol Obstet), Janesh Gupta (Eur J Obstet Gynecol), Karl Oliver Kagan (Arch Gynecol Obstet), Anthony …

Development And Implementation Of A Personal Virtual Assistant For Patient Engagement And Communication In Postsurgical Cancer Care: Feasibility Cohort Study, Miguel Bargas-Ochoa, Alejandro Zulbaran-Rojas, M G Finco, Anthony B Costales, Areli Flores-Camargo, Rasha O Bara, Manuel Pacheco, Tina Phan, Aleena Khichi, Bijan Najafi

Faculty, Staff and Students Publications

BACKGROUND: Cancer-care complexity heightens communication challenges between health care providers and patients, impacting their treatment adherence. This is especially evident upon hospital discharge in patients undergoing surgical procedures. Digital health tools offer potential solutions to address communication challenges seen in current discharge protocols. We aim to explore the usability and acceptability of an interactive health platform among discharged patients who underwent oncology-related procedures.

METHODS: A 4-week exploratory cohort study was conducted. Following hospital discharge, a tablet equipped with an integrated Personal Virtual Assistant (PVA) system was provided to patients who underwent oncology-related procedures. The PVA encompasses automated features that provide …

'I Did Not Know We Could Exercise This Small Premature Baby': Challenges Experienced By Parents While Implementing Early Intervention For Their Preterm Infants-A Qualitative Perspective, Manasa Kolibylu Raghupathy, Selim Jahangir, Sonia Khurana, Leslie Edward S. Lewis, Bhamini Krishna Rao

Rehabilitation Sciences Faculty Publications

Background

Preterm birth is a highly stressful experience for both parents and infants. Parental participation in care enhances developmental outcomes, fosters parent-infant interactions and builds parental confidence. However, low parental adherence has always been a challenge in the successful implementation of intervention programs both in the NICU and at home. It is imperative to understand parents' perspectives and view the challenges that they experience through their lens while providing early intervention to their infants born preterm. This study is aimed at identifying new parents' challenges when implementing early intervention programs for their infants during the transition from hospital to home. …

Fetal Lower Urinary Tract Obstruction: International Delphi Consensus On Management And Core Outcome Set, H J Mustafa, A Khalil, S Johnson, S J Gordijn, W Ganzevoort, C Melling, C J Koh, G T Mandy, M D Kilby, A Johnson, R A Quintero, G Ryan, A A Shamshirsaz, A A Nassr, On Behalf Of The Luto Working Group

Faculty, Staff and Students Publications

OBJECTIVES: To reach an international expert consensus on the diagnosis, prognosis and management of fetal lower urinary tract obstruction (LUTO) by means of a Delphi procedure, and to use this to define a core outcome set (COS).

METHODS: A three-round Delphi procedure was conducted among an international panel of experts in fetal LUTO. The panel was provided with a list of literature-based parameters to consider for the diagnosis, prognosis, management and outcomes of LUTO. A parallel procedure was conducted with patient groups during the development of the COS.

RESULTS: A total of 168 experts were approached, of whom 99 completed …

Segregation By Payer In Obstetrics And Gynecology Residency Ambulatory Care Sites, Kavita Vinekar, Neena Qasba, Hannah Reiser, Erika Banks, Kavita Arora, Brownsyne Edmonds, Karen George

Department of Obstetrics and Gynecology Faculty Papers

IMPORTANCE: Many teaching hospitals in the US segregate patients by insurance status, with resident clinics primarily composed of publicly insured or uninsured patients and faculty practices seeing privately insured patients. The prevalence of this model in obstetrics and gynecology residencies is unknown.

OBJECTIVES: To examine the prevalence of payer-based segregation in obstetrics and gynecology residency ambulatory care sites nationally and to compare residents' and program directors' perceptions of differences in quality of care between payer-segregated and integrated sites.

DESIGN, SETTING, AND PARTICIPANTS: This national survey study included all 6060 obstetrics and gynecology residents and 293 obstetrics and gynecology residency program …

Hydrops And Congenital Diaphragmatic Hernia: Reported Incidence And Postnatal Outcomes Analysis Of The Congenital Diaphragmatic Hernia Study Group Registry, Carmen Mesas Burgos, Ashley H Ebanks, Anna Löf-Granström, Kylie I Holden, Anthony Johnson, Peter Conner, Matthew T Harting, Congenital Diaphragmatic Hernia Study Group

Faculty, Staff and Student Publications

Objective: Congenital Diaphragmatic Hernia (CDH) associated with hydrops is rare. The aim of this study was to describe the incidence of this combination of anomalies and the postnatal outcomes from a large database for CDH.

Study design: Data from the multicenter, multinational database on infants with prenatally diagnosed CDH (CDHSG Registry) born from 2015 to 2021 were analyzed.

Results: A total of 3985 patients were entered in the registry during the study period, 3156 were prenatally diagnosed and 88 were reported to have associated fluid in at least 1 compartment, representing 2.8% of all prenatally diagnosed CDH cases in the …

Best Quality Vs. Sex Selection - An Analysis Of Embryo Selection Preferences For Patients Undergoing Preimplantation Genetic Testing For Aneuploidy Over A 10-Year Period, Pavan Gill, Christine Whitehead, Marie Werner, Emre Seli

Jefferson Health - New Jersey Papers

PURPOSE: Investigate patient preferences in embryo selection for transfer regarding quality versus sex in IVF/ICSI cycles with PGT-A and assess associated clinical implications.

METHODS: Retrospective cohort study at a university fertility practice from January 2012 to December 2021. Included were patients undergoing single frozen euploid transfers with at least one embryo of each sex available. Primary outcomes were preference for embryo selection (quality vs. sex) and sex preference (male vs. female). Trends over 10 years were evaluated and clinical outcomes, including clinical pregnancy rate (CPR), sustained implantation rate (SIR), and live birth rate (LBR), were compared.

RESULTS: A total of …

Fetal Malrotation With Midgut Volvulus: Prenatal Diagnosis And Planning, Jai Sidpra, Sniya Sudhakar, Asthik Biswas, Flavia Massey, Valentina Turchetti, Tracy Lau, Edward Cook, Javeria Raza Alvi, Hasnaa M Elbendary, Jerry L Jewell, Antonella Riva, Alessandro Orsini, Aglaia Vignoli, Zara Federico, Jessica Rosenblum, An-Sofie Schoonjans, Matthias De Wachter, Ignacio Delgado Alvarez, Ana Felipe-Rucián, Nourelhoda A Haridy, Shahzad Haider, Mashaya Zaman, Selina Banu, Najwa Anwaar, Fatima Rahman, Shazia Maqbool, Rashmi Yadav, Vincenzo Salpietro, Reza Maroofian, Rajan Patel, Rupa Radhakrishnan, Sanjay P Prabhu, Klaske Lichtenbelt, Helen Stewart, Yoshiko Murakami, Ulrike Löbel, Felice D'Arco, Emma Wakeling, Wendy Jones, Eleanor Hay, Sanjay Bhate, Thomas S Jacques, David M Mirsky, Matthew T Whitehead, Maha S Zaki, Tipu Sultan, Pasquale Striano, Anna C Jansen, Maarten Lequin, Linda S De Vries, Mariasavina Severino, Andrew C Edmondson, Lara Menzies, Philippe M Campeau, Henry Houlden, Amy Mctague, Stephanie Efthymiou, Kshitij Mankad

Faculty, Staff and Students Publications

Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare multisystem disorders arising from pathogenic variants in glycosylphosphatidylinositol anchor pathway (GPI-AP) genes. Despite associating 24 of at least 31 GPI-AP genes with human neurogenetic disease, prior reports are limited to single genes without consideration of the GPI-AP as a whole and with limited natural history data. In this multinational retrospective observational study, we systematically analyse the molecular spectrum, phenotypic characteristics and natural history of 83 individuals from 75 unique families with IGDs, including 70 newly reported individuals; the largest single cohort to date. Core clinical features were developmental delay or …

A Randomized Controlled Trial Of The Happy, Healthy, Loved Personalized Text-Message Program For New Parent Couples: Impact On Breastfeeding Self-Efficacy And Mood., Erin Henshaw, Marie Cooper, Teresa Wood, Sanchita Krishna, Marie Lockhart, Stacey Doan

Women’s Health Articles

BACKGROUND: Breastfeeding self-efficacy has been identified as an important influence on breastfeeding outcomes. Among new parent couples, partners are uniquely positioned to be sources of support for developing breastfeeding self-efficacy, yet few breastfeeding programs have attempted to involve partners directly. The purpose of this study was to test the impact of a novel program, Happy, Healthy, Loved, on breastfeeding self-efficacy and maternal mood through emphasizing partner support and actively addressing postpartum-specific stress management in a tailored text message delivery program.

METHODS: A randomized trial was conducted in which primiparous mother-partner dyads intending to exclusively breastfeed were recruited at midwestern hospitals …

Glucose-6-Phosphate Dehydrogenase Deficiency As A Cause For Nonimmune Hydrops Fetalis And Severe Fetal Anemia: A Systematic Review, Neel S. Iyer, Matthew H. Mossayebi, Tracy J. Gao, Lylach Haizler-Cohen, Daniele Di Mascio, Rodney A. Mclaren, Huda B. Al-Kouatly

Department of Obstetrics and Gynecology Faculty Papers

BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disorder that predisposes individuals to hemolysis due to an inborn error of metabolism. We performed a systematic literature review to evaluate G6PD deficiency as a possible etiology of nonimmune hydrops fetalis (NIHF) and severe fetal anemia.

METHODS: PubMed, OVID Medline, Scopus, and clinicaltrials.gov were queried from inception until 31 April 2023 for all published cases of NIHF and severe fetal anemia caused by G6PD deficiency. Keywords included "fetal edema," "hydrops fetalis," "glucose 6 phosphate dehydrogenase deficiency," and "fetal anemia." Cases with workup presuming G6PD deficiency as an etiology for NIHF and …

Mycoplasmoides Genitalium Nucleic Acid Semi-Quantitation And Molecular Macrolide Resistance Detection Via Automated Assays: Gender And Specimen Source Considerations, Erik Munson, Josephine Moore, Trinity Krueger, Amanda Zapp, Stephen C Lavey, Kimber L Munson, Irene A Stafford, Brian Mustanski

Faculty, Staff and Student Publications

A laboratory-developed test (LDT) using analyte-specific reagents has been optimized on a commercial platform to detect macrolide resistance-associated mutations (MRM) in 23S rRNA from Mycoplasmoides genitalium from primary clinical specimens. In this study, MRM-LDT was applied to a multi-specimen source study set. One thousand four hundred ninety-five primary specimens testing positive for M. genitalium by commercial transcription-mediated amplification (TMA) were initially titered by the TMA assay using serial 10-fold dilutions to semi-quantitate target nucleic acid burden. Primary specimens were then processed for MRM detection using the MRM-LDT. Findings were stratified by gender and specimen source. The mean log10 target nucleic …

Teen Pregnancy Involvement Among African, Caribbean And Black Adolescent Boys And Girls: A Scoping Review Protocol, Emmanuela Ojukwu, Eunice Bawafaa, Emily Mckay, Harsimran Grewal, Sara Afsah, Shivangi Singh, Elizabeth Saewyc

Faculty, Staff and Student Publications

OBJECTIVES: This study aims to investigate the incidence, associated factors and interventions to address teen pregnancy involvement (TPI) among African, Caribbean and Black (ACB) adolescents in North America.

DESIGN: We conducted a scoping review of the literature, guided by the social-ecological model.

DATA SOURCES: Studies were retrieved from databases such as Ovid Medline, Ovid Embase, CINAHL, CAB Direct and Google Scholar and imported into COVIDENCE for screening.

ELIGIBILITY CRITERIA: The Joanna Briggs Institute scoping reviews protocol guided the establishment of eligibility criteria. Included studies focused on rates, associated factors and interventions related to TPI among ACB boys and girls aged …

Fetal Brain-Derived Exosomal Mirnas From Maternal Blood: Potential Diagnostic Biomarkers For Fetal Alcohol Spectrum Disorders (Fasds), Nune Darbinian, Monica Hampe, Diana Martirosyan, Ahsun Bajwa, Armine Darbinyan, Nana Merabova, Gabriel Tatevosian, Laura Goetzl, Shohreh Amini, Michael E Selzer

Faculty, Staff and Student Publications

Fetal alcohol spectrum disorders (FASDs) are leading causes of neurodevelopmental disability but cannot be diagnosed early in utero. Because several microRNAs (miRNAs) are implicated in other neurological and neurodevelopmental disorders, the effects of EtOH exposure on the expression of these miRNAs and their target genes and pathways were assessed. In women who drank alcohol (EtOH) during pregnancy and non-drinking controls, matched individually for fetal sex and gestational age, the levels of miRNAs in fetal brain-derived exosomes (FB-Es) isolated from the mothers’ serum correlated well with the contents of the corresponding fetal brain tissues obtained after voluntary pregnancy termination. In six …

Jag1/2 Maintain Esophageal Homeostasis And Suppress Foregut Tumorigenesis By Restricting The Basal Progenitor Cell Pool, Haidi Huang, Yu Jiang, Jiangying Liu, Dan Luo, Jianghong Yuan, Rongzi Mu, Xiang Yu, Donglei Sun, Jihong Lin, Qiyue Chen, Xinjing Li, Ming Jiang, Jianming Xu, Bo Chu, Chengqian Yin, Lei Zhang, Youqiong Ye, Bo Cao, Qiong Wang, Yongchun Zhang

Faculty, Staff and Students Publications

Basal progenitor cells are crucial for maintaining foregut (the esophagus and forestomach) homeostasis. When their function is dysregulated, it can promote inflammation and tumorigenesis. However, the mechanisms underlying these processes remain largely unclear. Here, we employ genetic mouse models to reveal that Jag1/2 regulate esophageal homeostasis and foregut tumorigenesis by modulating the function of basal progenitor cells. Deletion of Jag1/2 in mice disrupts esophageal and forestomach epithelial homeostasis. Mechanistically, Jag1/2 deficiency impairs activation of Notch signaling, leading to reduced squamous epithelial differentiation and expansion of basal progenitor cells. Moreover, Jag1/2 deficiency exacerbates the deoxycholic acid (DCA)-induced squamous epithelial injury and …

Leukocytospermia Does Not Negatively Impact Outcomes In In Vitro Fertilization Cycles With Intracytoplasmic Sperm Injection And Preimplantation Genetic Testing For Aneuploidy: Findings From 5435 Cycles, Pavan Gill, Nicolas Garrido Puchalt, Thomas Molinaro, Marie Werner, Emre Seli, James Hotaling, Philip Cheng

Jefferson Health - New Jersey Papers

PURPOSE: To investigate whether leukocytospermia (defined as the presence of ≥ 1 × 10

METHODS: This was a retrospective cohort study including 5425 cycles between January 2012 to December 2021 at a single large university-affiliated fertility clinic. The primary outcome was live birth rate (LBR).

RESULTS: The prevalence of leukocytospermia was 33.9% (n = 1843). Baseline characteristics including female age, BMI, AMH, Day 3 FSH, and male partner's age were similar in cycles with and without leukocytospermia. The LBR after the first euploid embryo transfer was similar in those with and without leukocytospermia (62.3% vs. 63% p = 0.625). Secondary …

Fatty Acid Concentrations In Preterm Infants Fed The Exclusive Human Milk Diet: A Prospective Cohort Study, Lindsay F Holzapfel, Jana P Unger, Pam Gordon, Heeju Yang, Joanne E Cluette-Brown, Laura A Gollins, Amy B Hair, Camilia R Martin

Faculty, Staff and Student Publications

OBJECTIVE: Quantify blood fatty acids and growth outcomes in preterm infants fed the exclusive human milk diet.

METHODS: A prospective cohort study of 30 infants 24-34 weeks gestation and ≤1250 g fed the exclusive human milk diet. Blood fatty acids were quantified at two time points. Comparisons were made using two-sample t-tests and Wilcoxon rank sum.

RESULTS: Donor human milk-fed (n = 12) compared to mother's own milk-fed infants (n = 18) from birth to after 28 days of life, had an increased interval change of linoleic to docosahexaenoic acid ratio (5.5 vs. -1.1 mole percent ratio, p = 0.034). …

Machine Learning-Enabled Maternal Risk Assessment For Women With Pre-Eclampsia (The Piers-Ml Model): A Modelling Study, Tünde Montgomery-Csobán, Kimberley Kavanagh, Paul Murray, Chris Robertson, Sarah J E Barry, U Vivian Ukah, Beth A Payne, Kypros H Nicolaides, Argyro Syngelaki, Olivia Ionescu, Ranjit Akolekar, Jennifer A Hutcheon, Laura A Magee, Peter Von Dadelszen, Piers Consortium

Faculty, Staff and Student Publications

BACKGROUND: Affecting 2-4% of pregnancies, pre-eclampsia is a leading cause of maternal death and morbidity worldwide. Using routinely available data, we aimed to develop and validate a novel machine learning-based and clinical setting-responsive time-of-disease model to rule out and rule in adverse maternal outcomes in women presenting with pre-eclampsia.

METHODS: We used health system, demographic, and clinical data from the day of first assessment with pre-eclampsia to predict a Delphi-derived composite outcome of maternal mortality or severe morbidity within 2 days. Machine learning methods, multiple imputation, and ten-fold cross-validation were used to fit models on a development dataset (75% of …

Zika Virus Prevention Behaviors And Knowledge Among Male Partners Of Pregnant People And Lack Of Condom Use As A Prevention Behavior From The Zika En Embarazadas Y Niños (Zen) Prospective Cohort Study, Colombia, Christina L Sancken, Ayzsa Tannis, Sandra A Amouzou, Veronica Burkel, Jeffrey M Carlson, Suzanne Newton, Suzanne M Gilboa, Maritza Gonzalez, Diana Valencia, Van T Tong, Martha Ospina

Faculty, Staff and Student Publications

Objective: Zika virus (ZIKV) infection in pregnancy can cause brain and eye abnormalities and neurodevelopmental sequelae. In the absence of medical countermeasures, behavioral interventions were recommended to prevent mosquito bites and sexual transmission of ZIKV. This report uses data from the Zika en Embarazadas y Niños (ZEN) prospective cohort study in Colombia to describe the knowledge, attitudes, and behaviors (KAB) related to ZIKV prevention in male partners compared to those of their pregnant partners at study enrollment during February 2017-2018.

Results: Most male partners reported wearing protective clothing such as long pants (97.6%) and long sleeves (72.8%), as well as …

Sex Differences In Revascularization, Treatment Goals, And Outcomes Of Patients With Chronic Coronary Disease: Insights From The Ischemia Trial, Harmony R Reynolds, Derek D Cyr, C Noel Bairey Merz, Leslee J Shaw, Bernard R Chaitman, William E Boden, Karen P Alexander, Yves D Rosenberg, Sripal Bangalore, Gregg W Stone, Claes Held, John Spertus, Kaatje Goetschalckx, Olga Bockeria, Jonathan D Newman, Jeffrey S Berger, Ahmed Elghamaz, Renato D Lopes, James K Min, Daniel S Berman, Michael H Picard, Raymond Y Kwong, Robert A Harrington, Boban Thomas, Sean M O'Brien, David J Maron, Judith S Hochman, Ischemia Research Group

Faculty, Staff and Student Publications

BACKGROUND: Women with chronic coronary disease are generally older than men and have more comorbidities but less atherosclerosis. We explored sex differences in revascularization, guideline-directed medical therapy, and outcomes among patients with chronic coronary disease with ischemia on stress testing, with and without invasive management.

METHODS AND RESULTS: The ISCHEMIA (International Study of Comparative Health Effectiveness with Medical and Invasive Approaches) trial randomized patients with moderate or severe ischemia to invasive management with angiography, revascularization, and guideline-directed medical therapy, or initial conservative management with guideline-directed medical therapy alone. We evaluated the primary outcome (cardiovascular death, myocardial infarction, or hospitalization for …

The Role Of Family Accommodation In Child Posttraumatic Stress Symptoms And Functional Impairment In The Context Of Cognitive Behavioral Therapy, Ogechi Cynthia Onyeka, Samuel D Spencer, Alison Salloum, Katie Jiannetto, Eric A Storch

Faculty, Staff and Students Publications

BACKGROUND: Caregiver behaviors such as family accommodation (FA) are negatively reinforced by reduced distress in the short term, but ultimately maintain symptoms. It is important to explore the role of FA on symptoms and impairment. The current study examined the relationship among FA, posttraumatic stress symptoms (PTSS), and functional impairment in a sample of children and their caregivers who completed trauma treatment.

METHOD: Participants included 183 children and their caregivers (M age = 7.89; 55.19 % female; 73.22 % non-Hispanic; 51.37 % White). Data consisted of parent-reported measures collected at baseline, post-treatment, and 12-month follow-up from a randomized control trial …

Gene Expression Of Tight Junctions In Foreskin Is Not Affected By Hiv Pre-Exposure Prophylaxis, Emily L. Webb, Stefan Petkov, Heejin Yun, Laura Else, Limakatso Lebina, Jennifer Serwanga, Azure-Dee A.P. Pillay, Thabiso B. Seiphetlo, Susan Mugaba, Patricia Namubiru, Geoffrey Odoch, Daniel Opoka, Andrew S. Ssemata, Pontiano Kaleebu, Saye Khoo, Neil Martinson, Julie Fox, Clive M. Gray, Carolina Herrera, Francesca Chiodi

Department of Obstetrics & Gynecology Faculty Publications

Introduction: Tight junctions (TJs) serve as permeability filters between the internal and external cellular environment. A large number of proteins have been identified to be localized at the TJs. Due to limitations in tissue collection, TJs in the male genital tract have been understudied.

Methods: We analysed the transcriptomics of 132 TJ genes in foreskin tissue of men requesting voluntary medical male circumcision (VMMC) and enrolled in the Combined HIV Adolescent Prevention Study (CHAPS) trial conducted in South Africa and Uganda (NCT03986970). The trial evaluated the dose requirements for event-driven HIV pre-exposure prophylaxis (PrEP) with emtricitabine-tenofovir (FTC-TDF) or emtricitabine-tenofovir alafenamide …

Association Between Serum Vitamin D Status And Uterine Leiomyomas: A Case-Control Study, Chukwuemeka Chukwubuikem Okoro, Okechukwu Christian Ikpeze, George Uchenna Eleje, Gerald Okanandu Udigwe, Chukwuemeka Okwudili Ezeama, Joseph Odirichukwu Ugboaja, Chukwunonso Isaiah Enechukwu, Osita Samuel Umeononihu, Chukwudi Anthony Ogabido, Charlotte Blanche Oguejiofor, Tobechi Kingsley Njoku, Richard Obinwanne Egeonu, Chigozie Geoffrey Okafor, Hillary Ikechukwu Obiagwu, Chukwudubem Chinagorom Onyejiaka, Afam Ben Obidike, Christian Ejike Onah, Ifeanyi Uzukwu, Amarachukwu Doris Okoro, Evaristus Chino Ezema, Adaobi Maryann Ibekwe, Joseph Ifeanyichukwu Ikechebelu

Faculty, Staff and Student Publications

OBJECTIVE: Uterine leiomyoma is a common gynecological condition that negatively affects women's quality of life. Vitamin D plays an important role in tumor development and progression. However, clinical studies comparing serum vitamin D levels between women with and without uterine leiomyomas are limited and inconclusive. This study aimed to compare serum vitamin D levels in women with and without uterine leiomyomas.

METHODS: This hospital-based case-control study included 150 women who visited a gynecological clinic. The cases included 75 women with uterine leiomyoma, whereas the controls included 75 age-and parity-matched participants without uterine leiomyoma. Serum vitamin D levels were measured in …

Sars-Cov-2 Niches In Human Placenta Revealed By Spatial Transcriptomics, Enrico R Barrozo, Maxim D Seferovic, Eumenia C C Castro, Angela M Major, David N Moorshead, Michael D Jochum, Ricardo Ferral Rojas, Cynthia D Shope, Kjersti M Aagaard

Faculty, Staff and Students Publications

BACKGROUND: Functional placental niches are presumed to spatially separate maternal-fetal antigens and restrict the vertical transmission of pathogens. We hypothesized a high-resolution map of placental transcription could provide direct evidence for niche microenvironments with unique functions and transcription profiles.

METHODS: We utilized Visium Spatial Transcriptomics paired with H&E staining to generate 17,927 spatial transcriptomes. By integrating these spatial transcriptomes with 273,944 placental single-cell and single-nuclei transcriptomes, we generated an atlas composed of at least 22 subpopulations in the maternal decidua, fetal chorionic villi, and chorioamniotic membranes.

FINDINGS: Comparisons of placentae from uninfected healthy controls (n = 4) with COVID-19 asymptomatic …

Bioaccumulation Of Non-Essential Trace Elements Detected In Women's Follicular Fluid, Urine, And Plasma Is Associated With Poor Reproductive Outcomes Following Single Euploid Embryo Transfer: A Pilot Study, Andrea Palomar, Roberto Gonzalez-Martin, Alicia Quiñonero, Nuria Pellicer, Rocio Fernandez-Saavedra, Isabel Rucandio, Rodolfo Fernandez-Martinez, Estefania Conde-Vilda, Alberto J. Quejido, Caroline Zuckerman, Christine Whitehead, Richard T. Scott, Francisco Dominguez

Department of Obstetrics and Gynecology Faculty Papers

This study aims to determine the association of non-essential trace elements present in follicular fluid, plasma, and urine with reproductive outcomes of women undergoing intracytoplasmic sperm injection (ICSI), preimplantation genetic testing for aneuploidies (PGT-A) and single frozen euploid embryo transfer (SET/FET). This single-center, prospective cohort study included sixty women undergoing ICSI with PGT-A and SET/FET between 2018 and 2019. Urine, plasma and follicular fluid samples were collected on the vaginal oocyte retrieval day to simultaneously quantify ten non-essential trace elements (i.e., Ba, Sr, Rb, Sn, Ti, Pb, Cd, Hg, Sb, and As). We found several associations between the levels of …

Testis-Specific Serine Kinase 3 Is Required For Sperm Morphogenesis And Male Fertility, Kaori Nozawa, Thomas X Garcia, Katarzyna Kent, Mei Leng, Antrix Jain, Anna Malovannaya, Fei Yuan, Zhifeng Yu, Masahito Ikawa, Martin M Matzuk

Faculty, Staff and Students Publications

BACKGROUND: The importance of phosphorylation in sperm during spermatogenesis has not been pursued extensively. Testis-specific serine kinase 3 (Tssk3) is a conserved gene, but TSSK3 kinase functions and phosphorylation substrates of TSSK3 are not known.

OBJECTIVE: The goals of our studies were to understand the mechanism of action of TSSK3.

MATERIALS AND METHODS: We analyzed the localization of TSSK3 in sperm, used CRISPR/Cas9 to generate Tssk3 knockout (KO) mice in which nearly all of the Tssk3 open reading frame was deleted (ensuring it is a null mutation), analyzed the fertility of Tssk3 KO mice by breeding mice for 4 months, …

Development Of A Definition Of Postacute Sequelae Of Sars-Cov-2 Infection, Tanayott Thaweethai, Sarah E Jolley, Elizabeth W Karlson, Emily B Levitan, Bruce Levy, Grace A Mccomsey, Lisa Mccorkell, Girish N Nadkarni, Sairam Parthasarathy, Upinder Singh, Tiffany A Walker, Caitlin A Selvaggi, Daniel J Shinnick, Carolin C M Schulte, Rachel Atchley-Challenner, George A Alba, Radica Alicic, Natasha Altman, Khamal Anglin, Urania Argueta, Hassan Ashktorab, Gaston Baslet, Ingrid V Bassett, Lucinda Bateman, Brahmchetna Bedi, Shamik Bhattacharyya, Marie-Abele Bind, Andra L Blomkalns, Hector Bonilla, Hassan Brim, Patricia A Bush, Mario Castro, James Chan, Alexander W Charney, Peter Chen, Lori B Chibnik, Helen Y Chu, Rebecca G Clifton, Maged M Costantine, Sushma K Cribbs, Sylvia I Davila Nieves, Steven G Deeks, Alexandria Duven, Ivette F Emery, Nathan Erdmann, Kristine M Erlandson, Kacey C Ernst, Rachael Farah-Abraham, Cheryl E Farner, Elen M Feuerriegel, Judes Fleurimont, Vivian Fonseca, Nicholas Franko, Vivian Gainer, Jennifer C Gander, Edward M Gardner, Linda N Geng, Kelly S Gibson, Minjoung Go, Jason D Goldman, Halle Grebe, Frank L Greenway, Mounira Habli, John Hafner, Jenny E Han, Keith A Hanson, James Heath, Carla Hernandez, Rachel Hess, Sally L Hodder, Matthew K Hoffman, Susan E Hoover, Beatrice Huang, Brenna L Hughes, Prasanna Jagannathan, Janice John, Michael R Jordan, Stuart D Katz, Elizabeth S Kaufman, John D Kelly, Sara W Kelly, Megan M Kemp, John P Kirwan, Jonathan D Klein, Kenneth S Knox, Jerry A Krishnan, Andre Kumar, Adeyinka O Laiyemo, Allison A Lambert, Margaret Lanca, Joyce K Lee-Iannotti, Brian P Logarbo, Michele T Longo, Carlos A Luciano, Karen Lutrick, Jason H Maley, Gail Mallett, Jai G Marathe, Vincent Marconi, Gailen D Marshall, Christopher F Martin, Yuri Matusov, Alem Mehari, Hector Mendez-Figueroa, Robin Mermelstein, Torri D Metz, Richard Morse, Jarrod Mosier, Christian Mouchati, Janet Mullington, Shawn N Murphy, Robert B Neuman, Janko Z Nikolich, Ighovwerha Ofotokun, Elizabeth Ojemakinde, Anna Palatnik, Kristy Palomares, Tanyalak Parimon, Samuel Parry, Jan E Patterson, Thomas F Patterson, Rachel E Patzer, Michael J Peluso, Priscilla Pemu, Christian M Pettker, Beth A Plunkett, Kristen Pogreba-Brown, Athena Poppas, John G Quigley, Uma Reddy, Rebecca Reece, Harrison Reeder, W B Reeves, Eric M Reiman, Franz Rischard, Jonathan Rosand, Dwight J Rouse, Adam Ruff, George Saade, Grecio J Sandoval, Jorge L Santana, Shannon M Schlater, Frank C Sciurba, Fitzgerald Shepherd, Zaki A Sherif, Hyagriv Simhan, Nora G Singer, Daniel W Skupski, Amber Sowles, Jeffrey A Sparks, Fatima I Sukhera, Barbara S Taylor, Larissa Teunis, Robert J Thomas, John M Thorp, Paul Thuluvath, Amberly Ticotsky, Alan T Tita, Katherine R Tuttle, Alfredo E Urdaneta, Daisy Valdivieso, Timothy M Vanwagoner, Andrew Vasey, Monica Verduzco-Gutierrez, Zachary S Wallace, Honorine D Ward, David E Warren, Steven J Weiner, Shelley Welch, Sidney W Whiteheart, Zanthia Wiley, Juan P Wisnivesky, Lynn M Yee, Sokratis Zisis, Leora I Horwitz, Andrea S Foulkes

Faculty, Staff and Student Publications

IMPORTANCE: SARS-CoV-2 infection is associated with persistent, relapsing, or new symptoms or other health effects occurring after acute infection, termed postacute sequelae of SARS-CoV-2 infection (PASC), also known as long COVID. Characterizing PASC requires analysis of prospectively and uniformly collected data from diverse uninfected and infected individuals.

OBJECTIVE: To develop a definition of PASC using self-reported symptoms and describe PASC frequencies across cohorts, vaccination status, and number of infections.

DESIGN, SETTING, AND PARTICIPANTS: Prospective observational cohort study of adults with and without SARS-CoV-2 infection at 85 enrolling sites (hospitals, health centers, community organizations) located in 33 states plus Washington, DC, …

Histone H2a Lys130 Acetylation Epigenetically Regulates Androgen Production In Prostate Cancer, Thanh Nguyen, Dhivya Sridaran, Surbhi Chouhan, Cody Weimholt, Audrey Wilson, Jingqin Luo, Tiandao Li, John Koomen, Bin Fang, Nagireddy Putluri, Arun Sreekumar, Felix Y Feng, Kiran Mahajan, Nupam P Mahajan

Faculty, Staff and Students Publications

The testicular androgen biosynthesis is well understood, however, how cancer cells gauge dwindling androgen to dexterously initiate its de novo synthesis remained elusive. We uncover dual-phosphorylated form of sterol regulatory element-binding protein 1 (SREBF1), pY673/951-SREBF1 that acts as an androgen sensor, and dissociates from androgen receptor (AR) in androgen deficient environment, followed by nuclear translocation. SREBF1 recruits KAT2A/GCN5 to deposit epigenetic marks, histone H2A Lys130-acetylation (H2A-K130ac) in SREBF1, reigniting de novo lipogenesis & steroidogenesis. Androgen prevents SREBF1 nuclear translocation, promoting T cell exhaustion. Nuclear SREBF1 and H2A-K130ac levels are significantly increased and directly correlated with late-stage prostate cancer, reversal of …