The First Congenital Disorders of Glycosylation Patient (Fetus) with Homozygous c.95T>G Variant.

Introduction: Congenital disorders of glycosylation (CDG) are autosomal recessive hereditary genetic disorders characterized by abnormal glycosylation of N-linked oligosaccharides.

Case Presentation: In this research, prenatal testing (24th week of pregnancy) revealed findings like polyhydramnios, hydrocephaly, abnormal facial features/shape, brain morphology abnormality, spina bifida, vertebral column abnormality, macrocephaly, scoliosis, micrognathia, abnormal kidney morphology, short fetal femur length, and short fetal humerus length in the fetus. Whole-exome sequencing was performed; the gene has shown a pathogenic variant.

Non-puerperal uterine inversion due to submucous myoma in a woman: a case report.

Uterine leiomyomas are the most common benign tumor of the female reproductive tract. Their incidence during pregnancy is approximately 2 percent and they are associated with some complications such as preterm labor, placental abruption, fetal malpresentation, obstructed labor, cesarean delivery, and postpartum hemorrhage. They may develop anywhere within the muscular wall of the uterus, including submucosal, intramural, or subserosal areas.

Serum Thiol/Disulphide Homeostasis in Preeclampsia.

Objective: To determine the serum thiol/disulphide homeostasis in preeclampsia and to investigate the association with clinical parameters.

Methods: Forty-three pregnant women with preeclampsia and 43 healthy, uncomplicated pregnancies were included in the study. Native thiol, disulphide, and total thiol concentrations were measured by a novel automated method.

Placental ADAMTS-12 Levels in the Pathogenesis of Preeclampsia and Intrahepatic Cholestasis of Pregnancy.

Our aim was to determine whether placental A Disintegrin-like Metalloproteinase with ThromboSpondin motif 12 (ADAMTS-12), arylesterase (ARES) levels, total oxidant status (TOS), and total antioxidant status (TAS) differ in preeclampsia, intrahepatic cholestasis of pregnancy (ICP), and uncomplicated pregnancies or not. A prospective case-control study was carried out including 84 pregnant women (26 with ICP, 28 preeclamptic patients, and 30 healthy controls). Levels of ADAMTS-12, TAS, TOS, and ARES were studied in the supernatants of placental tissue homogenates.