Effects of MTHFR C677T polymorphism on vitamin D, homocysteine and natural killer cell cytotoxicity in women with recurrent pregnancy losses.

Study Question: Is there any relationship between vitamin D [25 (OH) vitamin D], total plasma homocysteine and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in women with recurrent pregnancy losses (RPL)?

Summary Answer: Women with MTHFR 677TT (homozygous mutation, TT) genotype have significantly lower vitamin D levels, higher homocysteine and natural killer (NK) cell cytotoxicities than those of women with MTHFR 677CC (wild type, CC) and 677CT (heterozygous mutation, CT) genotypes.

What Is Known Already: Vitamin D insufficiency, MTHFR C677T polymorphism and hyperhomocysteinemia have been reported as risk factors for RPL. However, the relationship between these risk factors is not known in this population.

The risk of preterm birth in vanishing twin: A multicenter prospective cohort study.

Objective: To evaluate not only the risk of total preterm birth (PTB) but also spontaneous preterm birth (sPTB) and indicated preterm birth (iPTB) in vanishing twin (VT).

Study Design: This is a secondary analysis of a multicenter prospective cohort study. In 12 different healthcare institutions, women with singleton pregnancies were enrolled in early pregnancy and followed up till delivery.

Treatment of gestational diabetes diagnosed by the IADPSG criteria decreases excessive fetal growth.

Objective: We evaluated the effect on treatment using the new International Association of Diabetes and Pregnancy Study Group (IADPSG) criteria for gestational diabetes mellitus (GDM) diagnosis.

Methods: Singleton pregnant women whose plasma glucose levels were ≥140 mg/dL on the 50 g glucose challenge test (GCT) underwent 75 g oral glucose tolerance for GDM diagnosis. During the first half of the study period, GDM was diagnosed using 2 abnormal values by Carpenter-Coustan (C-C) criteria.

Height of elevated fetal buttock for prediction of successful external cephalic version.

Objective: To increase the rate of successful external cephalic version (ECV) and to minimize the complications, it is important to identify the predictors of success. Therefore, the purpose of this study was to investigate whether the height of the elevated fetal buttock (HOB) is a valuable predictor of successful ECV or not.

Methods: This prospective study was conducted from August 2016 to June 2018.

Epigenome-wide base-resolution profiling of DNA methylation in chorionic villi of fetuses with Down syndrome by methyl-capture sequencing.

Background: Epigenetic mechanisms provide an interface between environmental factors and the genome and are influential in various diseases. These mechanisms, including DNA methylation, influence the regulation of development, differentiation, and establishment of cellular identity. Here, we performed high-throughput methylome profiling to determine whether differential patterns of DNA methylation correlate with Down syndrome (DS).

Impact of BMI on peak growth hormone responses to provocative tests and therapeutic outcome in children with growth hormone deficiency.

This study investigated the relationship between peak stimulated growth hormone (GH) and body mass index (BMI), as well as the impact of BMI on therapeutic response in patients with GH deficiency (GHD). A total of 460 patients were enrolled in the study. The patients were divided into four groups as per the etiology and peak GH values: idiopathic (n = 439), organic (n = 21), complete (n = 114), and partial (n = 325) GHD groups.

Factors associated with endometrial pathology during tamoxifen therapy in women with breast cancer: a retrospective analysis of 821 biopsies.

Purpose: This study evaluated the factors associated with endometrial pathologies during tamoxifen use in women with breast cancer.

Methods: This study analyzed 821 endometrial biopsies from women who received tamoxifen for breast cancer. Clinical characteristics were compared according to the presence of endometrial pathology (atypical hyperplasia and cancer).

Body fluid concentrations of bisphenol A and their association with fertilization outcomes.

Bisphenol A (BPA) is an endocrine-disrupting chemical thought to mimic the action of oestrogens. There have been reports suggesting an association between BPA exposure and infertility in humans. In this prospective cohort study, 146 couples undergoing fertilization (IVF) were recruited.

Clinical and Genetic Analysis of an Infertile Male with 46,XX/46,XY Chimerism.

The sex chromosome-discordant chimerism 46,XX/46,XY is rarely found in humans with a phenotypically normal appearance, and this lack of phenotypic changes and the rarity of chimerism make it difficult to identify its exact incidence. Here, we report a case of this sex chromosome-discordant chimerism diagnosed by cytogenic and molecular analyses of peripheral blood in a phenotypically normal male who was referred to our facility for infertility. Based on the karyotype, fluorescence in situ hybridisation (FISH) and short tandem repeat (STR) analyses, the type of this chimerism was determined to be tetragametic presenting four alleles at two loci on chromosomes 16 and 21.

What should be done for men with sperm DNA fragmentation?

In an age when a small quantity of sperm can lead to pregnancy through fertilization or intracytoplasmic sperm injection, selecting healthy sperm is important. Sperm DNA fragmentation (SDF) is known to be higher in infertile men. Terminal deoxynucleotidyl transferase-mediated deoxyuridine triphosphate nick end labeling (TUNEL) and the alkaline comet test are SDF tests that directly measure DNA damage and have shown closer correlations with assisted reproduction results than indirect tools such as the sperm chromatin structure assay or the sperm chromatic dispersion test.

Prenatally Diagnosed Rare Trisomy 16 Mosaicism in Human Amniotic Fluid Cells in the Second Trimester: A Case Report.

Although trisomy 16 is commonly detected in spontaneous abortions and accounts for over 30% of cases of autosomal trisomy detected after spontaneous abortion, trisomy 16 mosaicism is rarely detected by amniocentesis in the second trimester. Here, we report a case of level III trisomy 16 mosaicism (47,XX,+16[8]/46,XX[31]) diagnosed by cytogenetic analysis of independently cultured amniotic fluid cells. The female baby was delivered at full term with low birth weight and intrauterine growth retardation, and interestingly, her karyotype was normal (46,XX).

Fas and FasL genetic polymorphisms in women with recurrent pregnancy loss: a case-control study.

Aberrant apoptosis at the trophoblast-maternal interface and abnormal expression of Fas and Fas ligand (FasL) have been reported in complicated pregnancies with recurrent pregnancy losses (RPL) and preeclampsia. We assessed the prevalence of Fas and FasL genetic polymorphisms in Korean women with RPL and in fertile controls. In total, 306 women with RPL and 298 fertile controls were enrolled.

Immune modulation of i.v. immunoglobulin in women with reproductive failure.

Background: The mechanism of maternal immune tolerance of the semi-allogenic fetus has been explored extensively. The immune reaction to defend from invasion by pathogenic microorganisms should be maintained during pregnancy. An imbalance between the immune tolerance to the fetus and immune activation to the pathogenic organisms is associated with poor pregnancy outcomes.

Intravenous immunoglobulin G in women with reproductive failure: The Korean Society for Reproductive Immunology practice guidelines.

The task force of the Korean Society for Reproductive Immunology recommends intravenous immunoglobulin G treatment in women with reproductive failure, including recurrent pregnancy loss and/or repeated implantation failure, who show cellular immune factors such as abnormal natural killer cell levels, natural killer cell cytotoxicity, and/or type 1 T helper immunity.

Psychological distress and fertility quality of life (FertiQoL) in infertile Korean women: The first validation study of Korean FertiQoL.

Objective: To investigate psychological distress and fertility quality of life (FertiQoL) in infertile Korean women, and to investigate whether a correlation exists between psychological distress and FertiQoL.

Methods: Participants in this study were made up of 141 infertile women and 65 fertile women. We conducted a survey on psychological distress (using the Depression Anxiety Stress Scales [DASS]-42 questionnaire) and administered a FertiQoL questionnaire.

The incidence rates of endometrial hyperplasia and endometrial cancer: a four-year population-based study.

Introduction: The aim of this study was to determine the incidence rates of endometrial hyperplasia (EH) and endometrial cancer (EC) in the Republic of Korea using national insurance claim data generated from 2009 to 2012.

Materials And Methods: Data that were generated from 2009 to 2012 were sourced from the Korean Health Insurance Review and Assessment Service-National Inpatients Sample database. The data from women who were assigned diagnosis codes representing EH or EC within 1 month of being assigned codes that corresponded to procedures that included endometrial biopsies and several types of gynecologic surgeries to obtain endometrial pathology samples, were selected for analysis.

CD99 Is Strongly Expressed in Basal Cells of the Normal Adult Epidermis and Some Subpopulations of Appendages: Comparison with Developing Fetal Skin.

Background: CD99 is a cell surface transmembrane glycoprotein expressed in various tissues. CD99 is differentially expressed between subpopulations of each tissue and is highly expressed in certain hematopoietic and precursor cells. However, there has been no comprehensive study of CD99 expression in normal skin.

Association between pregnancy and adnexal torsion: A population-based, matched case-control study.

The purpose of this study was to determine the effect of pregnancy on adnexal torsion (AT). We conducted a matched case-control study using the Korean Health Insurance Review and Assessment Service-National Inpatients Sample (HIRA-NIS) from 2009 to 2011. AT patients were defined as women with both a diagnostic code (N835) and a surgical code for AT.

The Incidence of Unexpected Uterine Malignancy in Women Undergoing Hysterectomy for a Benign Condition: A National Population-Based Study.

Background: Potential risks associated with using a laparoscopic power morcellator have been reported in terms of the intraperitoneal seeding of benign and malignant diseases; therefore, knowing the precise incidence of unexpected uterine malignancy (UUM) would have clinically significant value.

Objective: The aim of this study was to investigate the incidence of UUM after a hysterectomy for benign conditions.

Methods: We analyzed the national inpatient sample data that were extracted by a stratified random sampling (sex and age) method from the Korean National Health Insurance Database between 1 January 2010 and 31 December 2012.

The role of the addition of ovarian suppression to tamoxifen in young women with hormone-sensitive breast cancer who remain premenopausal or regain menstruation after chemotherapy (ASTRRA): study protocol for a randomized controlled trial and progress.

Background: Ovarian function suppression (OFS) has been shown to be effective as adjuvant endocrine therapy in premenopausal women with hormone receptor-positive breast cancer. However, it is currently unclear if addition of OFS to standard tamoxifen therapy after completion of adjuvant chemotherapy results in a survival benefit. In 2008, the Korean Breast Cancer Society Study Group initiated the ASTRRA randomized phase III trial to evaluate the efficacy of OFS in addition to standard tamoxifen treatment in hormone receptor-positive breast cancer patients who remain or regain premenopausal status after chemotherapy.

Graves Disease Is Associated With Endometriosis: A 3-Year Population-Based Cross-Sectional Study.

The aim of this cross-sectional study was to compare the prevalence of thyroid diseases between women with and without endometriosis.We established the endometriosis group according to diagnosis codes, surgery codes, and gonadotropin-releasing hormone agonist codes using the Korean Health Insurance Review and Assessment Service-National Inpatients Sample (HIRA-NIS) from 2009 to 2011. Four controls were randomly matched to each endometriosis case.

Genetic Polymorphism of CYP2D6 and Clomiphene Concentrations in Infertile Patients with Ovulatory Dysfunction Treated with Clomiphene Citrate.

CYP2D6 is primarily responsible for the metabolism of clomiphene citrate (CC). The purpose of the present study was to investigate the relationship between CYP2D6 genotypes, concentrations of CC and its major metabolites and drug response in infertility patients. We studied 42 patients with ovulatory dysfunction treated with only CC.