To better understand transcriptional regulation during human oogenesis and preimplantation development, we defined stage-specific transcription, which highlighted the cleavage stage as being highly distinctive. Here, we present multiple lines of evidence that a eutherian-specific multicopy retrogene, DUX4, encodes a transcription factor that activates hundreds of endogenous genes (for example, ZSCAN4, KDM4E and PRAMEF-family genes) and retroviral elements (MERVL/HERVL family) that define the cleavage-specific transcriptional programs in humans and mice. Remarkably, mouse Dux expression is both necessary and sufficient to convert mouse embryonic stem cells (mESCs) into 2-cell-embryo-like ('2C-like') cells, measured here by the reactivation of '2C' genes and repeat elements, the loss of POU5F1 (also known as OCT4) protein and chromocenters, and the conversion of the chromatin landscape (as assessed by transposase-accessible chromatin using sequencing (ATAC-seq)) to a state strongly resembling that of mouse 2C embryos.
View Article and Find Full Text PDFSpecial considerations must be taken when patients with human immunodeficiency virus (HIV), hepatitis B, or hepatitis C desire to become pregnant. Patients with chronic viral illnesses desire to have children at rates similar to the general population, and options are available to decrease both vertical transmission and viral transmission between partners. Preconception counseling or consultation with fertility specialists is imperative in patients with HIV, hepatitis B, and hepatitis C so that reproductive goals can be addressed and optimized.
View Article and Find Full Text PDFJ Assist Reprod Genet
February 2017
Purpose: The purpose of the study is to evaluate existing literature for possible associations between female infertility, infertility-associated diagnoses, and the following areas of disease: psychiatric disorders, breast cancer, ovarian cancer, endometrial cancer, cardiovascular disease, and metabolic dysfunction.
Methods: The design of the study is a literature review. The patients were women included in 26 selected studies due to a diagnosis of infertility or a reproductive disorder associated with infertility.
Objective: To evaluate the utility of routine hormone evaluation in all men presenting for infertility by understanding the relationship between sperm concentration and hypoandrogenism.
Methods: We performed a retrospective cross-sectional study between September 2013 and May 2014 at a tertiary referral center in Utah. Ninety-four men presenting for infertility consecutively between the ages of 18 and 55 years were identified.
Multiple trace elements have estrogen receptor activity, but the association of these elements with uterine leiomyoma has not been defined. A cohort of 473 women aged 18-44 undergoing surgery for benign gynecologic indications provided whole blood and urine specimens for trace element analysis, which was performed by inductively coupled plasma mass spectrometry. Twenty elements were analyzed in blood and 3 in urine.
View Article and Find Full Text PDFObjective: To estimate the interrater and intrarater reliability of endometriosis diagnosis and severity of disease among gynecologic surgeons viewing operative digital images.
Methods: The study population comprised a random sample (n=148 [36%]) of women who participated in the Endometriosis: Natural History, Diagnosis and Outcomes study. Four academic expert and four local, specialized expert surgeons reviewed the images, diagnosed the presence or absence of endometriosis for each woman, and rated severity using the revised American Society for Reproductive Medicine (ASRM) criteria.
Unlabelled: Approximately 15% of patients with endometrial cancer are premenopausal. Previous studies largely support the conservative treatment of endometrial cancer in women desiring future fertility. From these studies, 75% to 80% of patients demonstrate a complete response to progestin therapy and the average recurrence rate is 30% to 35%.
View Article and Find Full Text PDFAsymmetric obstructed uterus didelphys (Herlyn-Werner-Wunderlich syndrome) is a rare congenital müllerian anomaly consisting of uterus didelphys, hemivaginal septum, and ipsilateral renal agenesis. Herein is reported a case of incomplete Herlyn-Werner-Wunderlich syndrome diagnosed using 3-dimensional transvaginal ultrasound in a 14-year-old patient with absence of the hemivaginal septum. The most contributive diagnostic factors and appropriate therapeutic management in such cases are discussed.
View Article and Find Full Text PDFObjective: To describe a case of superior mesenteric vein thrombosis associated with IVF.
Design: Case report.
Setting: University teaching hospital.