Life Sciences Commons^™

Rare Variant Enrichment Analysis Supports Greb1l As A Contributory Driver Gene In The Etiology Of Mayer-Rokitansky-Küster-Hauser Syndrome, Angad Jolly, Haowei Du, Christelle Borel, Na Chen, Sen Zhao, Christopher M Grochowski, Ruizhi Duan, Jawid M Fatih, Moez Dawood, Sejal Salvi, Shalini N Jhangiani, Donna M Muzny, André Koch, Konstantinos Rouskas, Stavros Glentis, Efthymios Deligeoroglou, Flora Bacopoulou, Carol A Wise, Jennifer E Dietrich, Ignatia B Van Den Veyver, Antigone S Dimas, Sara Brucker, V Reid Sutton, Richard A Gibbs, Stylianos E Antonarakis, Nan Wu, Zeynep H Coban-Akdemir, Lan Zhu, Jennifer E Posey, James R Lupski

Student and Faculty Publications

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by aplasia of the female reproductive tract; the syndrome can include renal anomalies, absence or dysgenesis, and skeletal anomalies. While functional models have elucidated several candidate genes, only WNT4 (MIM: 603490) variants have been definitively associated with a subtype of MRKH with hyperandrogenism (MIM: 158330). DNA from 148 clinically diagnosed MRKH probands across 144 unrelated families and available family members from North America, Europe, and South America were exome sequenced (ES) and by family-based genomics analyzed for rare likely deleterious variants. A replication cohort consisting of 442 Han Chinese individuals with MRKH was …

Disability In An American Indian Community : Prevalence, Distribution, And The Role Of Polychlorinated Biphenyls, Thoin F. Begum

Legacy Theses & Dissertations (2009 - 2024)

Phthalates have been implicated as reproductive toxicants in animal models and in human populations. This study examined associations between potential exposure sources and urinary phthalate concentrations among couples undergoing infertility treatment. Women (n=56) and their male partners (n=43) undergoing in vitro fertilization (IVF) were enrolled in a prospective cohort investigation of environmental chemicals and IVF outcomes at an academic medical center. On the day of oocyte retrieval, participants provided urine samples and completed questionnaires detailing use of personal care products (PCPs), and consumption of medications, foods, and beverages in the preceding 24-hours. Urine was analyzed for MEP, MBP, MPP, MHxP, …

Editorial: Vitamin D Deficiency And Sufficiency In Reproduction And Bone Metabolism, Rehana Rehman, Faiza Alam, Mukhtiar Baig, Aysha Habib Khan, Naseer Ahmed

Department of Biological & Biomedical Sciences

No abstract provided.

Endometrial Receptivity And Implantation Require Uterine Bmp Signaling Through An Acvr2a-Smad1/Smad5 Axis., Diana Monsivais, Takashi Nagashima, Renata Prunskaite-Hyyryläinen, Kaori Nozawa, Keisuke Shimada, Suni Tang, Clark Hamor, Julio E Agno, Fengju Chen, Ramya P Masand, Steven L Young, Chad J Creighton, Francesco J Demayo, Masahito Ikawa, Se-Jin Lee, Martin M Matzuk

Faculty Research 2021

During early pregnancy in the mouse, nidatory estrogen (E2) stimulates endometrial receptivity by activating a network of signaling pathways that is not yet fully characterized. Here, we report that bone morphogenetic proteins (BMPs) control endometrial receptivity via a conserved activin receptor type 2 A (ACVR2A) and SMAD1/5 signaling pathway. Mice were generated to contain single or double conditional deletion of SMAD1/5 and ACVR2A/ACVR2B receptors using progesterone receptor (PR)-cre. Female mice with SMAD1/5 deletion display endometrial defects that result in the development of cystic endometrial glands, a hyperproliferative endometrial epithelium during the window of implantation, and impaired apicobasal transformation that prevents …

Interplay Between Oxidative Stress, Sirt1, Reproductive And Metabolic Functions, Faiza Alam, Hareem Syed, Sofia Amjad, Mukhtiar Baig, Taseer Ahmed Khan, Rehana Rehman

Department of Biological & Biomedical Sciences

Silent information Regulators (SIRT1) gene stimulates antioxidants' expression, repairs cells damaged by oxidative stress (OS), and prevents the cells' dysfunction. In particular, the role of different Sirtuins, particularly SIRT1 in reproduction, has been widely studied over the past decade. Decreased SIRT 1 causes mitochondrial dysfunction by increasing Reactive Oxygen Species (ROS), lipid peroxidation, and DNA damage in both male and female gametes (Sperms and Oocytes), leading to infertility. In the female reproductive system, SIRT1 regulates proliferation and apoptosis in granulosa cells (GCs), and its down-regulation is associated with a reduced ovarian reserve. SIRT1 also modulates the stress response to OS …

Diagnostic Accuracy Of Resistive Index Of Capsular And Intratesticular Branches Of Testicular Arteries In Infertile Men With Oligoasthenospermia: A Case-Control Study, Mehdi Zolfaghar-Khani, Hadi Majidi Dr, Behzad Feizzadeh, Mojtaba Sabaghi

BioMedicine

Introduction: Male infertility accounts for nearly 50% of couples' infertility. Only a few studies evaluate the diagnostic accuracy of resistive index (RI) of testicular arteries using color Doppler imaging to identify male infertility. The aim of this study was to investigate the diagnostic accuracy of RI of the capsular and intratesticular branches of testicular arteries in infertile men with oligoasthenospermia and its comparison with normal men.

Material and Methods: In a case-control study, 30 patients with oligoasthenospermia (case group) and 30 healthy controls who meet the inclusion criteria, were selected. For all patients, RI was measured using color …

Association Of Circulatory Kisspeptin Levels And Hormonal Interplay With Male Infertility: A Cross-Sectional Study In Karachi, Pakistan, Rehana Rehman, Kaleem Ahmed, Nida Zahid, Faiza Alam, Syeda Sadia Fatima

Department of Biological & Biomedical Sciences

Objectives: To determine the impact of Kisspeptin on male reproductive axis in a selected urban population.
Methods: The cross-sectional study was conducted at the Sindh Institute of Reproductive Medicine in collaboration with Aga Khan University, Karachi, from July, 2017, to February, 2018, and comprised infertile males with abnormal sperm parameters who were placed in Group A and fertile males with normal sperm parameters placed in Group B. Serum samples were estimated for Kisspeptin, follicle stimulating hormone, luteinizing hormone, testosterone and sex hormone-binding globulin using enzyme-linked immunosorbent assay. Data was analysed using SPSS 22.
Results: Of the 313 male subjects, 178(57%) …

Polycystic Ovary Syndrome, Subfertility And Vitamin D Deficiency, Arfa Azhar, Fatima Abid, Rehana Rehman

Department of Biological & Biomedical Sciences

Polycystic ovarian syndrome (PCOS) is the most common endocrine female disorder, affecting 4-18% women of reproductive age. The prevalence of PCOS in South Asian women, especially in Pakistani women, is much higher (52%) as compared to white population (20 - 25% in UK). In Pakistan, vitamin D status displays 31.2% vitamin D insufficiency, 53.5% vitamin D deficiency, and 15.3% normal vitamin D values. Vitamin D deficiency, though very common in the general population, is even more prevalent in PCOS patients, seen in approximately 67-85%, which further correlates to their related comorbidities. A lot of researches have to be directed to …

Inconceivable: An Analysis Of Assisted Reproductive Technology For The Church, Mary Elizabeth Gresham

Senior Honors Theses

Infertility pushes the boundaries of emotional and physical health, which is why many couples inside and outside the church turn to Assisted Reproductive Technology (ART) for a solution. Despite what has seemed like silence from the Church, some individuals have braved the biological confusion and ethical dilemmas to evaluate the technology. Three major ethical viewpoints have emerged that each prioritize something over medical technology, namely community, order, or human dignity. This paper serves to educate pastors and church leaders on the ever-changing biology of ART as well as give voice to Christians that have spoken out on this issue. At …

Follicular Sensitivity Index: A Tool To Predict Successful Conception After Intra-Cytoplasmic Sperm Injection, Rehana Rehman, Amara Zafar, Nida Zahid, Nuruddin Badruddin Mohammed

Department of Biological & Biomedical Sciences

Follicular sensitivity index (FSI) is used for estimation of follicular responsiveness to controlled ovarian hyperstimulation (COH) during intra-cytoplasmic sperm injection (ICSI). In a retrospective study, FSI of 1,385 females was calculated as [pre-ovulatory follicle count (PFC) × 100,000]/ [antral follicle count (AFC) × total received stimulation doses]. Females were then categorised into low, middle and high FSI groups according to FSI tertile values. FSI was 8.65 ±2.82 in non-pregnant as compared to 12.02 ±2.04 (p <0.01) in pregnant cohort. FSI turned out to be a strong predictor of successful conception on the receiver operating curve with cutoff value 10.36 at 76% specificity, sensitivity of 86% and area under the curve (AUC; 0.83). Calculation of FSI can thus predict the chances of successful conception in females with different causes of infertility.

The Ethics Of Ivf, Breanna Beers

Bioethics in Faith and Practice

In vitro fertilization (IVF) has promised hope to many couples struggling with the pain of infertility. However, as with any new medical technology, the ethical implications of this procedure must be examined, particularly in light of recent events such as the birth of the first genetically modified human beings, made possible by IVF. It is crucial to examine oppositions to IVF based on principle, as well as address concerns related to adjacent issues such as the discard of unused embryos; the selection, payment, privacy, and parental rights of donors and surrogates; the importance of genetic parenthood; new combinations of gametes; …

‘Am I Turning Into A Man?’ Experiences Of Pakistani Women With Pcos, Rida E Zehra Zaidi

MSJ Capstone Projects

According to the National Institutes of Health, 20 – 25% of all regularly ovulating women have PCOS. This disorder has a range of visible symptoms including excessive weight gain, hirsutism, acne, and hair loss among others. These symptoms make it difficult for women with the syndrome to fit the femininity ideals of the society, as it demands female bodies to be slim, smart, hair less, and to have porcelain skin and regular menstrual cycles. Women with PCOS and other health problems in Pakistan spend all their lives fighting unnecessary battles. This struggle has severe impacts on their physical and mental …

Mutations In The Human Follicle Stimulating Hormone Receptor Caveolin Interaction Motif Cause Increased Basal Activation, Elizabeth Altman

Honors Theses

Over twelve percent of women aged fifteen to forty-five in America suffer from infertility and/or impaired fecundity and over seven million women have used infertility services, such as intrauterine insemination and in vitro fertilization. Some cases of infertility may be due to dysfunctional human follicle stimulating hormone (hFSH) signaling. hFSH plays a role in spermatogenesis in males, as well as follicle maturation and estrogen production in females. Problems with either hFSH or the hFSH receptor (hFSHR) decrease fertility in males and cause complete infertility in females. As part of the hypothalamic-pituitary-gonadal axis, hFSH is released from the pituitary gland and …

Influence Of Body Mass Index And Polycystic Ovarian Syndrome On Icsi/Ivf Treatment Outcomes: A Study Conducted In Pakistani Women, Rehana Rehman, Rozina Mustafa, Rabiya Ali, Saeeda Shaharyar, Faiza Alam

Department of Biological & Biomedical Sciences

Background: Obesity may establish a crucial barrier for effective fertility treatment in polycystic ovary syndrome (PCOS) females.
Objective: To compare results of intra-cytoplasmic sperm injection (ICSI) in females with and without polycystic ovarian syndrome and further appraise the effect of obesity in PCOS females.
Materials and methods: A cross-sectional study from June 2015 to July 2016 included non-PCOS and PCOS (recognized by Rotterdam criteria) females who underwent ICSI. The PCOS were further stratified into non-obese and Obese according to the South Asian criteria for body mass index. Results were categorized on the basis of beta-human chorionic gonadotropin (β-hCG) and transvaginal …

Risk Of High-Grade Serous Ovarian Cancer Associated With Pelvic Inflammatory Disease, Parity And Breast Cancer, Louise Stewart, Katrina Spilsbury, Susan Jordan, Colin Stewart, C. D'Arcy J. Holman, Aime Powell, Joanne Reekie, Paul Cohen

Health Sciences Papers and Journal Articles

Background: Ovarian carcinoma is not a single disease, but rather a collection of subtypes with differing molecular properties and risk profiles. The most common of these, and the subject of this work, is high-grade serous ovarian carcinoma (HGSC).

Methods: In this population-based study we identified a cohort of 441,382 women resident in Western Australia who had ever been admitted to hospital in the State. Of these, 454 were diagnosed with HGSC. We used Cox regression to derive hazard ratios (HRs) comparing the risk of disease in women who had each of a range of medical diagnoses and surgical procedures with …

Ethical Concerns For Assisted Reproductive Technologies, Olga Najera

Dialogue & Nexus

The development of assisted reproductive technologies has provided new options for infertile couples in their pursuit of parenthood. As a result of the successful implementation of in vitro fertilization (IVF), gestational surrogacy is now an alternative. Other technology, such as genetic enhancement, could potentially become available for human beings soon; however, numerous ethical concerns have been raised by the fact that it requires germline engineering. The concerns brought about by these new reproductive technologies will be addressed in light of the teachings of the Roman Catholic Church and of the following ethical theories: Kantian, evolutionary, utilitarian, and virtue ethics.

Dreadlocks (Dock) Is Necessary To Regulate Growth Of The Germline Ring Canals In The Developing Drosophila Melanogaster Egg Chamber, Olivia Crowe

Undergraduate Honors Thesis Collection

Infertility is a prevalent issue in the United States, impacting 1.5 million women (1). A possible cause of infertility is defects in gametogenesis, or the formation of sperm and egg. Therefore, understanding the basic mechanisms that promote normal gamete formation could impact our understanding of infertility. The Drosophila melanogaster egg develops from an organ-like structure called an egg chamber. The egg chamber is composed of a central cluster of 16 germ cells that are connected to one another by intercellular bridges, called ring canals. These ring canals are composed of filamentous actin and allow the transfer of materials from supporting …

Evaluation Of The Reproductive And Metabolic Problems Encountered During Two Breeding Seasons In Barren Arabian Mares, Erol Koca, Erhan Özenç, Esra Şeker, Alper Sevi̇mli̇, Mehmet Rifat Vural, Mehmet Uçar, Şükrü Küplülü

Turkish Journal of Veterinary & Animal Sciences

The aim of this study was to investigate the reproductive problems and determine the effect of treatment method on the pregnancy and foaling rates of 27 barren Arabian mares. The mares were examined over two study seasons. Ultrasonography and gynecological examinations were performed for all mares that were unable to conceive during the previous season and mares for which pregnancy was not achieved even after mating with stallions three times during each season. Endometrial swab samples were also obtained for microbiological examination. Cytology and endometrial biopsy samples were obtained from all mares in the first study season. Endometrial biopsy samples …

Fertility Issues In Simmental Cows In Central Croatia: A 5-Year Study, Robert Zobel, Suzana Tkalcic, Wendell Cole

Turkish Journal of Veterinary & Animal Sciences

The purpose of this study was to establish the fertility trends in dairy cows in Central Croatia and compare the trends and causes of infertility and subfertility during a 5-year period. A total of 12,060 Simmental cows and heifers were included in the study. The animals were examined by vaginoscopy, transrectal palpation, and ultrasonography on a regular basis. Fertility problems that included infertility and subfertility were diagnosed in 56.61% of all observed animals. The total number of animals diagnosed with subfertility increased and almost doubled by the end of the study period. Subfertility issues associated with anovulatory oestrus, delayed ovulation, …

Seafood Consumption And Use Of Asian Herbal Preparation As A Source Of Exposure To Multiple Trace Elements In The Study Of Metals And Assisted Reproductive Technologies (Smart), Dongsul Kim

Legacy Theses & Dissertations (2009 - 2024)

As, Cd, Cs, Hg, Pb, and Zn may be associated with in vitro fertilization (IVF) outcomes. Seafood and Asian herbal preparations are identified as sources of exposure to these essential and non-essential trace elements in humans. The goal of the study is to assess associations between seafood consumption and the use of Asian herbal preparations and levels of essential and non-essential trace elements in biologic specimens collected from couples undergoing IVF. Fifty-nine couples completing a first IVF cycle at the University of California, San Francisco (UCSF) Center for Reproductive Health were recruited to participate in the Study of Metals and …

Treatment Of Infertile Cows: Efficacy Of Pgf_{2\Alpha} And Gentamicin Or Their Combination In A Prid Regime, Yavuz Öztürkler, Ömer Uçar

Turkish Journal of Veterinary & Animal Sciences

The efficacy of PGF_{2\alpha} and intrauterine gentamicin or their combination in a progesterone releasing intravaginal device (PRID) regime was investigated for treatment of infertility in cows. From 46 infertile cows, body condition scores (BCSs) were recorded and the cows were then divided into 4 experimental groups according to the synchronisation protocol and intrauterine gentamicin administration as follows: i) PRID (1.55 g of progesterone and 10 mg of oestradiol benzoate) for 12 days plus artificial insemination (AI) at 48 and 72 h (group 1, n = 8), ii) PRID for 12 days plus an i.m. injection of 0.150 mg of cloprostenol …

Comparison And Evaluation Of The Passive Haemagglutination Test And Elisa In Routine Screening Of Contagious Equine Metritis (Cem) In Mares With Endometritis Or Infertility, N. Yakut Özgür, Masashi Eguchi, Toru Anzai, Serkan İki̇z, Ati̇lla Ilgaz

Turkish Journal of Veterinary & Animal Sciences

One hundred and twenty thoroughbred breeder mares with endometritis or infertility were investigated for the detection of antibodies to Taylorella equigenitalis by the passive haemagglutination (PHA) test and ELISA between 1997 and 1999 in the Marmara region and the two tests were compared. Fifty-eight (48.33 %) of 120 sera were found to be positive by the PHA test and 52 (43.33%) by ELISA. 22 of the sera were found to be positive by the PHA test reacted at 1/64 titer, 27 at 1/128, 7 at 1/256 and 2 at 1/512 titer. Sera from 44 mares were positive in both tests. …

Numerical Chromosome Abnormalities In Sperm From Oligoasthenoteratozoospermic Patients And Fertile Males, Myung-Geol Pang

Theses and Dissertations in Biomedical Sciences

Artificial fertilization protocols have been developed which bypass natural barriers for reproduction. One aspect of infertility which has received little attention is the potential importance of aneuploidy in sperm. To more clearly understand the cytogenetic make-up of sperm from OAT patients, multi-probe, multi-color FISH was performed to determine aneuploidy.

The introduction of intracytoplasmic sperm injection (ICSI) has revolutionized protocols used in in vitro fertilization centers. The pregnancies resulting from ICSI suggest an increased frequency of sex chromosome aneuploidy in livebirths. Preliminary data by others' suggest that sperm tail swelling patterns following hypo-osmotic swelling (HOST) can be predictive of fertilizing ability. …