Whole-genome risk prediction of common diseases in human preimplantation embryos.

Preimplantation genetic testing (PGT) of in-vitro-fertilized embryos has been proposed as a method to reduce transmission of common disease; however, more comprehensive embryo genetic assessment, combining the effects of common variants and rare variants, remains unavailable. Here, we used a combination of molecular and statistical techniques to reliably infer inherited genome sequence in 110 embryos and model susceptibility across 12 common conditions. We observed a genotype accuracy of 99.

"Pause" for Resident Education in the Operating Room.

Objective: To determine if asking residents to discuss their specific learning objectives with the attending physician prior to beginning a surgical case would improve the educational experience in the operating room.

Study Design: This was a prospective nonrandomized cohort study utilizing a self-administered questionnaire. Prior to the intervention, residents and attendings were asked to fill out surveys evaluating the educational experience in the operating room.

Optimizing cryopreservation of human spermatogonial stem cells: comparing the effectiveness of testicular tissue and single cell suspension cryopreservation.

Objective: To determine whether optimal human spermatogonial stem cell (SSC) cryopreservation is best achieved with testicular tissue or single cell suspension cryopreservation. This study compares the effectiveness between these two approaches by using testicular SSEA-4+ cells, a known population containing SSCs.

Design: In vitro human testicular tissues.

Testicular niche required for human spermatogonial stem cell expansion.

Prepubertal boys treated with high-dose chemotherapy do not have an established means of fertility preservation because no established in vitro technique exists to expand and mature purified spermatogonial stem cells (SSCs) to functional sperm in humans. In this study, we define and characterize the unique testicular cellular niche required for SSC expansion using testicular tissues from men with normal spermatogenesis. Highly purified SSCs and testicular somatic cells were isolated by fluorescence-activated cell sorting using SSEA-4 and THY1 as markers of SSCs and somatic cells.

Characterization of human spermatogonial stem cell markers in fetal, pediatric, and adult testicular tissues.

Autologous spermatogonial stem cell (SSC) transplantation is a potential therapeutic modality for patients with azoospermia following cancer treatment. For this promise to be realized, definitive membrane markers of prepubertal and adult human SSCs must be characterized in order to permit SSC isolation and subsequent expansion. This study further characterizes the markers of male gonocytes, prespermatogonia, and SSCs in humans.

Management of the first in vitro fertilization cycle for unexplained infertility: a cost-effectiveness analysis of split in vitro fertilization-intracytoplasmic sperm injection.

Objective: To determine the cost-effectiveness of split IVF-intracytoplasmic sperm injection (ICSI) for the treatment of couples with unexplained infertility.

Design: Adaptive decision model.

Setting: Academic infertility clinic.

The role of embryonic origin in preeclampsia: a comparison of autologous in vitro fertilization and ovum donor pregnancies.

Objective: To compare the risk of gestational hypertension and preeclampsia in pregnancies conceived through standard in vitro fertilization (IVF) using autologous oocytes with pregnancies conceived using donated oocytes.

Methods: We conducted a retrospective, matched cohort study of women undergoing IVF using autologous compared with donor oocytes between 1998 and 2005. Women with live births resulting from oocyte donor pregnancies were matched for age and plurality (singleton or twin) with women undergoing autologous IVF.

Detection and quantification of mRNA in single human polar bodies: a minimally invasive test of gene expression during oogenesis.

Proteins and mRNA produced in oogenesis support embryonic development until the zygotic transition, 3 days after fertilization. Since polar bodies can be biopsied with little if any harm to the oocyte, we tested the hypothesis that mRNA originating from expression in the meiotic oocyte is present and detectable in a single polar body prior to insemination. Human oocytes were obtained from patients undergoing controlled ovarian hyperstimulation and intracytoplasmic sperm injection.

Use of sea stars to study basic reproductive processes.

Echinoderms are closely related to chordates and comprise a major group of invertebrate deuterostomes. They are broadcast spawners and as such, each female accumulates millions of eggs and oocytes. These cells are readily isolated, and are often large, clear, and surrounded by accessory cells and extracellular coverings that do not prevent access to the oocyte.

A pregnancy complicated by endometrial scarring.

A 39-year-old woman with a thick uterine synechia became pregnant with placental tissue implanted on both sides. She underwent serial ultrasounds during her pregnancy, experienced some mild second trimester bleeding, but delivered successfully at term.

Fibroids and reproductive outcomes: a systematic literature review from conception to delivery.

We examined the published relationship between uterine fibroids and reproductive outcomes. Submucosal fibroids had the strongest association with lower ongoing pregnancy rates, odds ratio, 0.5; 95% confidence interval, 0.

Abruptio placentae in the setting of an atypical presentation of acute appendicitis: a case report.

Background: Causes of placental abruption include traumatic events, cocaine use, hypertension, cigarette smoking and advanced maternal age. Recent studies also implicate inflammatory precursors, such as preterm premature rupture of membranes and chorioamnionitis. Clear precipitating events are often not identified, and precise etiologic determinants are still being determined.

Epidemiologic response to anthrax outbreaks: field investigations, 1950-2001.

We used unpublished reports, published manuscripts, and communication with investigators to identify and summarize 49 anthrax-related epidemiologic field investigations conducted by the Centers for Disease Control and Prevention from 1950 to August 2001. Of 41 investigations in which Bacillus anthracis caused human or animal disease, 24 were in agricultural settings, 11 in textile mills, and 6 in other settings. Among the other investigations, two focused on building decontamination, one was a response to bioterrorism threats, and five involved other causes.