Medical Specialties Commons^™

Isolated Vaginal Recurrence In Women With Stage I Endometrial Cancer, Eric Rios-Doria, Han T Cun, Olga T Filippova, Jennifer J Mueller, Kaled M Alektiar, Lora H Ellenson, Vicky Makker, Yulia Lakhman, Mario M Leitao, Anuja Jhingran, Pamela T Soliman, Nadeem R Abu-Rustum

Faculty, Staff and Student Publications

Objective: To compare clinical and pathologic characteristics of women with surgical stage I endometrial carcinoma by location of first recurrence and describe characteristics of isolated vaginal recurrence.

Methods: Patients with 2009 International Federation of Obstetrics and Gynecology (FIGO) stage I endometrial carcinoma treated at two large cancer centers from 1/1/2009-12/31/2017 were identified. Sarcoma histology was excluded. Recurrences were grouped into isolated vaginal or extravaginal. Isolated vaginal recurrences were localized by anatomic location within the vaginal vault. Clinical and pathologic variables were compared with chi-square analysis, and Kaplan-Meier curves with log-rank tests.

Results: Of 2815 women identified, 278 (10%) experienced a …

Steroid Receptor Coactivator-2 Drives Epithelial Reprogramming That Enables Murine Embryo Implantation, Vineet K Maurya, Maria M Szwarc, David M Lonard, Ramakrishna Kommagani, San Pin Wu, Bert W O'Malley, Francesco J Demayo, John P Lydon

Faculty, Staff and Students Publications

Although we have shown that steroid receptor coactivator-2 (SRC-2), a member of the p160/SRC family of transcriptional coregulators, is essential for decidualization of both human and murine endometrial stromal cells, SRC-2’s role in the earlier stages of the implantation process have not been adequately addressed. Using a conditional SRC-2 knockout mouse (SRC-2 ^d/d) in timed natural pregnancy studies, we show that endometrial SRC-2 is required for embryo attachment and adherence to the luminal epithelium. Implantation failure is associated with the persistent expression of Mucin 1 and E-cadherin on the apical surface and basolateral adherens junctions of the SRC-2 …

Gene Transcription Regulation By Er At The Single Cell And Allele Level, Fabio Stossi, Alejandra Rivera Tostado, Hannah L Johnson, Ragini M Mistry, Maureen G Mancini, Michael A Mancini

Faculty, Staff and Students Publications

In this short review we discuss the current view of how the estrogen receptor (ER), a pivotal member of the nuclear receptor superfamily of transcription factors, regulates gene transcription at the single cell and allele level, focusing on in vitro cell line models. We discuss central topics and new trends in molecular biology including phenotypic heterogeneity, single cell sequencing, nuclear phase separated condensates, single cell imaging, and image analysis methods, with particular focus on the methodologies and results that have been reported in the last few years using microscopy-based techniques. These observations augment the results from biochemical assays that lead …

Gastrointestinal: A Rare Case Of Concurrent Vulvar Crohn's Disease And Pyoderma Gangrenosum, J. Bommireddipally, K. Broussard, H. Osman, A. Uhlhorn, N. Loganantharaj

School of Medicine Faculty Publications

No abstract provided.

Barriers To Early Detection In Women Experiencing A Postpartum Hemorrhage: An Integrative Review, Katie Ragsdale

Master of Science in Nursing Final Projects

Abstract

Aim: The aim of this integrative review is to explore barriers to early detection in women experiencing postpartum hemorrhage.

Background: Women in the United States are more likely to die from childbirth complications than any other women living in other developed countries. Despite advances in maternity care, postpartum hemorrhage is the cause of nearly 70,000 maternal deaths every year, comparable to one woman dying of postpartum hemorrhage blood loss every eight minutes. Most maternal deaths are avoidable, as the solutions to prevent and manage these deadly complications are well known. Risk factors, assessment tools, causes, interventions, and outcomes are …

Nad+ Rescues Aging-Induced Blood-Brain Barrier Damage Via The Cx43-Parp1 Axis, Rui Zhan, Xia Meng, Dongping Tian, Jie Xu, Hongtu Cui, Jialei Yang, Yangkai Xu, Mingming Shi, Jing Xue, Weiwei Yu, Gaofei Hu, Ke Li, Xiaoxiao Ge, Qi Zhang, Mingming Zhao, Jianyong Du, Xin Guo, Wenli Xu, Yang Gao, Changyu Yao, Fan Chen, Yue Chen, Wenxin Shan, Yujie Zhu, Liang Ji, Bing Pan, Yan Yu, Wenguang Li, Xuyang Zhao, Qihua He, Xiaohui Liu, Yue Huang, Shengyou Liao, Bin Zhou, Dehua Chui, Y Eugene Chen, Zheng Sun, Erdan Dong, Yongjun Wang, Lemin Zheng

Faculty, Staff and Students Publications

Blood-brain barrier (BBB) function deteriorates during aging, contributing to cognitive impairment and neurodegeneration. It is unclear what drives BBB leakage in aging and how it can be prevented. Using single-nucleus transcriptomics, we identified decreased connexin 43 (CX43) expression in cadherin-5

Knowledge, Attitude, And Perception Of The General Public Towards The Impact Of Hemoglobinopathies On Pregnancy Outcomes: A Questionnaire-Based Study, Kumud Dhankhar, Kiran Dahiya, Shobha Chikkavaddaragudi Ramachandra, Akila Prashant

International Journal of Health and Allied Sciences

Background: Knowledge about hemoglobinopathies in the general public is unsatisfactory. Many couples are unaware of their carrier status and a child can be born with unexpected, serious hemoglobinopathies. Willingness to participate in screening programs can substantially help in bringing down the birth of children affected with hemoglobinopathies. To understand the knowledge, attitude, and perception of the general public on various hemoglobinopathies and their pregnancy outcomes we performed a questionnaire-based descriptive survey. Methods: After obtaining approval from the institutional ethics committee and validation by an expert panel we circulated a Google form consisting of 21 questions via WhatsApp which was made …

Improving Cervical Cancer Screening Rates In The Primary Care Setting, Esmeralda Young

Student Scholarly Projects

Practice Problem: Cervical cancer screening with Pap is the recommended standard practice for women aged 21 to 65. The project aimed to increase low cervical cancer screening rates at a primary care clinic.

PICOT: The PICOT question that guided this project was: (P) In women 21 to 65 years old in the primary care setting (I), does proactive pre-scheduling of cervical cancer screenings (C) compared to current standard practice (O) affect cervical cancer screening rates (T) over eight weeks?

Evidence: The evidence strongly supported improving cervical cancer screening among the targeted population. Studies showed that Pap smear screening reduced the …

Transforming Ovarian Cancer Care By Targeting Minimal Residual Disease, Amir A Jazaeri, Rachel Grisham, Anne Knisely, Stefani Spranger, Dmitriy Zamarin, R Tyler Hillman, Barrett C Lawson, Kathleen H Burns, Sanghoon Lee, Shannon N Westin, Enrico Moiso, Marc J Williams, Neelkanth M Bardhan, Thomas Pisanic, Ursula Matulonis, Britta Weigelt, Ieming Shih, Panagiotis A Konstantinopoulos, Stephanie Gaillard, Linghua Wang, Carol Aghajanian, Alan D D'Andrea, Paula Hammond, Sohrab Shah, Kai W Wucherpfennig, Karen H Lu

Faculty, Staff and Student Publications

Frontline treatment and resultant cure rates in patients with advanced ovarian cancer have changed little over the past several decades. Here, we outline a multidisciplinary approach aimed at gaining novel therapeutic insights by focusing on the poorly understood minimal residual disease phase of ovarian cancer that leads to eventual incurable recurrences.

Ischemic Bowel Associated With Newly Diagnosed Patent Foramen Ovale, Hannah Hong, Deanna Glassman, Shannon Neville Westin

Faculty, Staff and Student Publications

No abstract provided.

Aptamers As Potential Therapeutic Tools For Ovarian Cancer: Advancements And Challenges, Wojciech Szymanowski, Anna Szymanowska, Anna Bielawska, Gabriel Lopez-Berestein, Cristian Rodriguez-Aguayo, Paola Amero

Faculty, Staff and Student Publications

Ovarian cancer (OC) is the most common lethal gynecologic cause of death in women worldwide, with a high mortality rate and increasing incidence. Despite advancements in the treatment, most OC patients still die from their disease due to late-stage diagnosis, the lack of effective diagnostic methods, and relapses. Aptamers, synthetic, short single-stranded oligonucleotides, have emerged as promising anticancer therapeutics. Their ability to selectively bind to target molecules, including cancer-related proteins and receptors, has revolutionized drug discovery and biomarker identification. Aptamers offer unique insights into the molecular pathways involved in cancer development and progression. Moreover, they show immense potential as drug …

Machine Learning Methods For Endocrine Disrupting Potential Identification Based On Single-Cell Data, Zahir Aghayev, Adam T Szafran, Anh Tran, Hari S Ganesh, Fabio Stossi, Lan Zhou, Michael A Mancini, Efstratios N Pistikopoulos, Burcu Beykal

Faculty, Staff and Students Publications

Humans are continuously exposed to a variety of toxicants and chemicals which is exacerbated during and after environmental catastrophes such as floods, earthquakes, and hurricanes. The hazardous chemical mixtures generated during these events threaten the health and safety of humans and other living organisms. This necessitates the development of rapid decision-making tools to facilitate mitigating the adverse effects of exposure on the key modulators of the endocrine system, such as the estrogen receptor alpha (ERα), for example. The mechanistic stages of the estrogenic transcriptional activity can be measured with high content/high throughput microscopy-based biosensor assays at the single-cell level, which …

The Silence Of Mitotic Figures, Hope K. Haefner Md

Patient Experience Journal

A career in medicine is guided by the patients you treat and those who have taught you to treat these individuals. Communication is of utmost importance in all aspects of healthcare. However, there are times when communication can be difficult. This story takes you through a physician’s experience that led to a career in women’s healthcare, reflecting on the silence that prevailed as her journey began.

Experience Framework

This article is associated with the Staff & Provider Engagement lens of The Beryl Institute Experience Framework (https://theberylinstitute.org/experience-framework/).

• Access other PXJ articles related to this lens.
• Access other resources related …

Incidental Recognition Of Umbilical-Portal-Systemic Venous Shunt Diagnosed During Bpp For Decreased Fetal Movement, Kathleen Lundeberg, Adam Hiett

Obstetrics and Gynecology Faculty Publications

Background: The prevalence of prenatally diagnosed umbilical-portal systemic venous shunts (UPSVS) is reportedly rare, ranging from 0.003-0.209% [1]. Disruption in the normal development of the fetal venous system can be caused by primary failure of a system or by secondary occlusion of an already transformed system [2]. While UPSVS’s are rare, the downstream effects are potentially fatal, including intrauterine growth restriction, high output cardiac failure, associated neonatal morbidity and mortality, and thus necessitate early detection with appropriate monitoring.

Introduction: The patient was a 21-year-old G2P1001 who presented to the Maternal Fetal Medicine Ultrasound Genetics (MFMUG) clinic at 36w2d for a …

Maternal And Perinatal Outcomes Of Women With Vaginal Birth After Cesarean Section Compared To Repeat Cesarean Birth In Select South Asian And Latin American Settings Of The Global Network For Women's And Children's Health Research, Lester Figueroa, Margo Harrison, Manolo Mazariegos, Shivaprasad Gouda, Avinash Kavi, Richard Derman, Archana Patel, Prabir Das, Sarah Saleem, Farnaz Naqvi

Community Health Sciences

Objective: Our objective was to analyze a prospective population-based registry including five sites in four low- and middle-income countries to observe characteristics associated with vaginal birth after cesarean versus repeat cesarean birth, as well as maternal and newborn outcomes associated with the mode of birth among women with a history of prior cesarean.
Hypothesis: Maternal and perinatal outcomes among vaginal birth after cesarean section will be similar to those among recurrent cesarean birth.
Methods: A prospective population-based study, including home and facility births among women enrolled from 2017 to 2020, was performed in communities in Guatemala, India (Belagavi and Nagpur), …

Survival Of Cervical Cancer Patients At Moi Teaching And Referral Hospital, Eldoret In Western Kenya, E Mwaliko, P. Itsura, A. Keter, N. Buziba, H. Bastiaens, A. Jackie, A. Obala, V. Naanyu, P. Gichangi, Marleen Temmerman

Obstetrics and Gynaecology, East Africa

Background Cervical cancer is a major health burden and the second most common cancer after breast cancer among women in Kenya. Worldwide cervical cancer constitutes 3.1% of all cancer cases. Mortality rates are greatest among the low-income countries because of lack of awareness, screening and early-detection programs and adequate treatment facilities.

The main aim was to estimate survival and determine survival predictors of women with cervical cancer and limited resources in western Kenya.

Methods Retrospective charts review of women diagnosed with cervical cancer and follow-up for two years from the date of the histologic diagnosis. The outcome of interest was …

Real-World Utilization Of An Intrauterine, Vacuum-Induced, Hemorrhage-Control Device., Dena Goffman, Kara M Rood, Angela Bianco, Joseph R Biggio, Paul Dietz, Kelly Drake, Erica Heilman, Maeve Hopkins, Monique De Four Jones, Tyler Katz, Courtney Martin, Mona Prasad, Marcela C Smid, Kathryn D Wine, Robert Ryan, Candice Yong, Patricia I Carney, Hyagriv N Simhan

Women’s Health Articles

OBJECTIVE: To assess the real-world effectiveness and safety of a U.S. Food and Drug Administration (FDA)-cleared intrauterine vacuum-induced-hemorrhage control device for postpartum hemorrhage (PPH) management.

METHODS: Sixteen centers in the United States participated in this observational, postmarket registry medical record review (October 2020 through March 2022). The primary effectiveness outcome was treatment success , defined as bleeding control after insertion with no treatment escalation or bleeding recurrence. Additional outcomes included blood loss, time to device insertion, indwelling time, bleeding recurrence, and time to bleeding control. Treatment success and severe maternal morbidity measures (transfusion of 4 or more units of red …

Surface Charge Effects For The Hydrogen Evolution Reaction On Pt(111) Using A Modified Grand-Canonical Potential Kinetics Method, Mihir Patel, Matthias Franzen, Camille D Hawkins, Matthew Brown, Samir Patel

Faculty, Staff and Student Publications

Supraventricular tachycardia (SVT) is the most common tachyarrhythmia of pregnancy. Catecholamine surges, the use of vasoactive agents during delivery, and increased cardiac output during pregnancy are the most common contributing factors to developing SVT. SVT is usually benign in presentation but can lead to more serious arrhythmias in patients with a history of mitral stenosis secondary to rheumatic heart disease. When an SVT is detected, organic heart causes should be ruled out first. Symptoms of SVT include shortness of breath, palpitations, syncope, sweating, chest pain, and dizziness. In patients who are refractory to pharmacologic management and hemodynamically unstable, electrical cardioversion …

Benefits Of The Enhanced Recovery After Surgery (Eras) Pathway With Quadratus Lumborum Blocks For Minimally Invasive Gynecologic Surgery Patients: A Retrospective Cohort Study, Paul S Lee, Laurie L Brunette, Intira Sriprasert, Mohamed Eloustaz, Rasika Deshpande, Crystal Adams, Laila Muderspach, Lynda Roman, Shane Dickerson, Michael P Kim

Faculty, Staff and Student Publications

STUDY OBJECTIVE: This study aimed to determine the effect of the implementation of the Enhanced Recovery After Surgery (ERAS) protocol among patients receiving minimally invasive gynecologic surgery.

DESIGN AND SETTING: This retrospective cohort study was performed in a tertiary care hospital.

PATIENTS: A total of 328 females who underwent minimally invasive gynecologic surgeries requiring at least one overnight stay at Keck Hospital of University of Southern California (USC), California, USA, from 2016 to 2020 were included in this study.

INTERVENTIONS: The institutional ERAS protocol was implemented in late 2018. A total of 186 patients from 2016 to 2018 prior to …

Epidural Catheters For Cervical Epidural Steroid Injections To Target Higher Cervical Pathology: Clinical Images In Practice, Peter D Vu, Christopher L Robinson, Grant H Chen, Jamal J Hasoon

Faculty, Staff and Student Publications

Cervical radicular pain is commonly treated with cervical epidural steroid injections. The transforaminal approach allows for direct treatment of the steroid at a particular nerve root or level. Still, it carries a significant risk of morbidity and mortality with thromboembolism or injury to cervical vasculature. The interlaminar approach is commonly utilized as it avoids vascular structures. However, the epidural space becomes narrower at higher levels, limiting the ability to perform this approach at higher cervical levels. Cervical epidural catheters can be used and advanced to target higher cervical pathology through the interlaminar approach. We present clinical images demonstrating the utility …

Care After Premenopausal Risk-Reducing Salpingo-Oophorectomy In High-Risk Women: Scoping Review And International Consensus Recommendations, Denise R Nebgen, Susan M Domchek, Joanne Kotsopoulos, Joanne A De Hullu, Emma J Crosbie, Vincent Singh Paramanandam, Monique M A Brood-Van Zanten, Barbara M Norquist, Theresa Guise, Serge Rozenberg, Allison W Kurian, Holly J Pederson, Nese Yuksel, Rachel Michaelson-Cohen, Sharon L Bober, Agnaldo Lopes Da Silva Filho, Nora Johansen, F Guidozzi, D Gareth Evans, Usha Menon, Sheryl A Kingsberg, C Bethan Powell, Giovanni Grandi, Claudia Marchetti, Michelle Jacobson, Donal J Brennan, Martha Hickey

Faculty, Staff and Student Publications

Women at high inherited risk of ovarian cancer are offered risk-reducing salpingo-oophorectomy (RRSO) from age 35 to 45 years. Although potentially life-saving, RRSO may induce symptoms that negatively affect quality of life and impair long-term health. Clinical care following RRSO is often suboptimal. This scoping review describes how RRSO affects short- and long-term health and provides evidence-based international consensus recommendations for care from preoperative counselling to long-term disease prevention. This includes the efficacy and safety of hormonal and non-hormonal treatments for vasomotor symptoms, sleep disturbance and sexual dysfunction and effective approaches to prevent bone and cardiovascular disease.

Maternal Exposure To Ssris Or Snris And The Risk Of Congenital Abnormalities In Offspring: A Systematic Review And Meta-Analysis, Weiyi Huang, Robin Page, Theresa Morris, Susan Ayres, Alva Ferdinand, Samiran Sinha

Faculty Scholarship

Background

The association of maternal exposure to selective serotonin reuptake inhibitors (SSRIs) or serotonin and norepinephrine reuptake inhibitors (SNRIs) with the risk of system-specific congenital malformations in offspring remains unclear. We conducted a meta-analysis to examine this association and the risk difference between these two types of inhibitors.

Methods

A literature search was performed from January 2000 to May 2023 using PubMed and Web of Science databases. Cohort and case-control studies that assess the association of maternal exposure to SSRIs or SNRIs with the risk of congenital abnormalities were eligible for the study.

Results

Twenty-one cohort studies and seven case-control …

P2y2 Purinergic Receptor Gene Deletion Protects Mice From Bacterial Endotoxin And Sepsis-Associated Liver Injury And Mortality, Athis R Arunachalam, Sanju S Samuel, Arunmani Mani, Janielle P Maynard, Kelsey M Stayer, Eric Dybbro, Subapradha Narayanan, Aalekhya Biswas, Saliha Pathan, Krishnakant Soni, Abu Hena Mostafa Kamal, Chandra Shekar R Ambati, Nagireddy Putluri, Moreshwar S Desai, Sundararajah Thevananther

Faculty, Staff and Students Publications

Prostate cancer (PCa) remains a leading cause of mortality among American men, with metastatic and recurrent disease posing significant therapeutic challenges due to a limited comprehension of the underlying biological processes governing disease initiation, dormancy, and progression. The conventional use of PCa cell lines has proven inadequate in elucidating the intricate molecular mechanisms driving PCa carcinogenesis, hindering the development of effective treatments. To address this gap, patient-derived primary cell cultures have been developed and play a pivotal role in unraveling the pathophysiological intricacies unique to PCa in each individual, offering valuable insights for translational research. This review explores the applications …

Geographic Variation In Late-Stage Cervical Cancer Diagnosis, Itunu O Sokale, Aaron P Thrift, Jane Montealegre, Victor Adekanmbi, Onyema G Chido-Amajuoyi, Ann Amuta, Lorraine R Reitzel, Abiodun O Oluyomi

Faculty, Staff and Students Publications

IMPORTANCE: There are stark disparities in cervical cancer burden in the United States, notably by race and ethnicity and geography. Late-stage diagnosis is an indicator of inadequate access to and utilization of screening.

OBJECTIVE: To identify geospatial clusters of late-stage cervical cancer at time of diagnosis in Texas.

DESIGN, SETTING, AND PARTICIPANTS: This population-based cross-sectional study used incident cervical cancer data from the Texas Cancer Registry from 2014 to 2018 of female patients aged 18 years or older. Late-stage cervical cancer cases were geocoded at the census tract level (n = 5265) using their residential coordinates (latitude and longitude) at …

Oral Follicle-Stimulating Hormone Receptor Agonist Affects Granulosa Cells Differently Than Recombinant Human Fsh, Joie Z Guner, Diana Monsivais, Henry Yu, Fabio Stossi, Hannah L Johnson, William E Gibbons, Martin M Matzuk, Stephen Palmer

Faculty, Staff and Students Publications

Objective:

To determine whether TOP5300, a novel oral follicle stimulating hormone receptor (FSHR) allosteric agonist, elicits a different cellular response than recombinant human FSH (rh-FSH) in human granulosa cells from in vitro fertilization patients.

Design:

Basic science research with a preclinical allosteric FSHR agonist.

Subjects:

Infertility patients at a single academic fertility clinic were recruited under an IRB-approved protocol. Primary granulosa cell cultures were established for 41 patients, of which 8 had normal ovarian reserve (NOR), 17 were of advanced reproductive age (ARA), 12 had a diagnosis of polycystic ovarian syndrome (PCOS), and 4 had a combination of diagnoses, such …

Best Therapeutic Practices In The Management Of Obstetric Sepsis, Gabriel Petre Gorecki, Oana Denisa Balalau, Diana Elena Comandasu, Anca Daniela Stanescu, Dana Rodica Tomescu

Journal of Mind and Medical Sciences

Background. Physiological changes that occur during pregnancy make maternal sepsis a difficult condition to diagnose and treat, still having a fairly high mortality rate. Consequently, an early diagnosis and prompt therapeutic management of sepsis can significantly decrease mortality. The purpose of this study is to review literature data that present current practices in the management of obstetric sepsis. Methods. To collect the data required for the study, we performed a search of published articles in the PubMed and Google Scholar databases related to obstetric sepsis. Research paper articles from the period 2012-2022 were included in the analysis. In addition, 145 …

Sentinel Node Biopsy For Personalized Breast Cancer Management; Advances And Controversies, Rahim Al Moushaly, Daniel Ion, Octavian Andronic, Bogdan Socea, Alexandru Cosmin Palcau, Dan Nicolae Paduraru

Journal of Mind and Medical Sciences

Sentinel lymph node biopsy (SLNB) has become the gold standard for axillary lymph node staging, providing valuable prognostic information while minimizing complications compared to axillary lymph node dissection. However, there are ongoing debates and controversies surrounding SLNB in specific cases. Studies have explored the use of SLNB in neoadjuvant chemotherapy, emphasizing the need for customized therapy decisions. Factors such as age, tumor characteristics, and treatment response influence the selection of SLNB or axillary lymph node dissection. Additionally, the presence of extranodal extension, micrometastases, and isolated tumor cells has been evaluated to determine the need for lymphadenectomy. The importance of accurate …

Factors That Influence Receiving An Instrumental Assisted Birth: An Evidence-Based Project, Douglas Nanu, Madison Schatz, Gabriel Alemayehu, Teresa Rangel

Central Division Nurse Clinical Inquiry Conference

No abstract provided.

Project Inclusive Genetics: Protecting Reproductive Autonomy From Bias Via Prenatal Patient-Centered Counseling, Apolline Jungels, Lindsay Demers, Eric Ford, Blair K Stevens, Maya Sabatello, Shoumita Dasgupta

Faculty, Staff and Student Publications

Clinician bias negatively impacts the healthcare received by marginalized communities. In this study, we explored factors that influence clinician and trainee bias against individuals with intellectual disabilities and its impact on clinical judgment in prenatal genetic testing settings. Specifically, we examined bias toward a fetus with a higher chance of developing a disability. We compared genetics specialists with their non-expert counterparts. This web-based study included clinical vignettes, implicit association tests (IATs), and an educational module. 595 participants were recruited via their institution or professional society. We conducted statistical analyses, including regression models controlling for key demographic characteristics, to analyze recommendation …

Trio-Based Gwas Identifies Novel Associations And Subtype-Specific Risk Factors For Cleft Palate, Kelsey Robinson, Trenell J Mosley, Kenneth S Rivera-González, Christopher R Jabbarpour, Sarah W Curtis, Wasiu Lanre Adeyemo, Terri H Beaty, Azeez Butali, Carmen J Buxó, David J Cutler, Michael P Epstein, Lord J J Gowans, Jacqueline T Hecht, Jeffrey C Murray, Gary M Shaw, Lina Moreno Uribe, Seth M Weinberg, Harrison Brand, Mary L Marazita, Robert J Lipinski, Elizabeth J Leslie

Faculty, Staff and Student Publications

Cleft palate (CP) is one of the most common craniofacial birth defects; however, there are relatively few established genetic risk factors associated with its occurrence despite high heritability. Historically, CP has been studied as a single phenotype, although it manifests across a spectrum of defects involving the hard and/or soft palate. We performed a genome-wide association study using transmission disequilibrium tests of 435 case-parent trios to evaluate broad risks for any cleft palate (ACP) (n = 435), and subtype-specific risks for any cleft soft palate (CSP), (n = 259) and any cleft hard palate (CHP) (n = 125). We identified …