Introduction: The Crumbs homolog-2 ()-related syndrome is an extremely rare genetic disorder characterized by congenital hydrocephalus, steroid-resistant nephrotic syndrome, and cardiac anomalies. It is caused by biallelic variants in the gene.
Case Presentation: Herein, 2 new patients are presented including congenital hydrocephalus, nephrotic syndrome, scimitar syndrome, and severe cardiac anomalies.
Sensors (Basel)
December 2024
In recent decades, the development of new drugs has become increasingly expensive and inefficient, and the molecular mechanisms of most pharmaceuticals remain poorly understood. In response, computational systems and network medicine tools have emerged to identify potential drug repurposing candidates. However, these tools often require complex installation and lack intuitive visual network mining capabilities.
View Article and Find Full Text PDFGynecol Endocrinol
November 2022
Intrahepatic cholestasis of pregnancy (ICP) is the most common liver disease related to pregnancy in women. Sortilin-1 is a sorting receptor belonging to the vacuolar protein sorting 10 (Vps10p) domain family, and recent studies have shown that Sortilin-1 has a distinct role in the pathogenesis of biliary fibrosis and cirrhosis. We aimed to evaluate maternal serum Sortilin-1 level as a potential biomarker in pregnant women with intrahepatic cholestasis.
View Article and Find Full Text PDFObjective: Parkinson's disease protein 7 (PARK7/DJ-1) is an important antioxidant multiprotein against inflammation and oxidative stress. We therefore planned this study to demonstrate the association between maternal PARK7 levels and the occurrence of preterm premature rupture of membranes (PPROM).
Materials And Methods: We enrolled 80 pregnant women; 50 PPROM patients and 30 healthy controls, into this cross- sectional study between the 24 and 36 gestational weeks.
Turk J Obstet Gynecol
December 2021
Objective: This study aimed to investigate the correlation between serum Sulfiredoxin-1 (Srx-1) levels and gestational diabetes mellitus (GDM).
Materials And Methods: A total of 40 patients diagnosed with GDM according to the American Diabetes Association Criteria and 40 age matched and gestational age-matched healthy pregnant women as a control group were included in this cross-sectional study. Serum Srx-1 levels and other demographic and laboratory variables were analyzed.
Z Geburtshilfe Neonatol
June 2021
Objective: To evaluate whether placental protein-13 (PP-13) measured in the serum of pregnant women could predict abnormal invasive placentation (AIP) detected by color Doppler ultrasound (US) and magnetic resonance imaging scan in addition to the routine US scan during the third trimester.
Materials And Methods: The prospective case-control study included patients subdivided in 2 groups: 42 pregnant women with a singleton pregnancy at 28-32 weeks of gestation with only suspected AIP, and 32 healthy pregnant women. The serum PP-13 levels were measured in both groups using an enzyme-linked immunosorbent assay (ELISA) method and statistically compared.
J Matern Fetal Neonatal Med
July 2021
Objective: Lysyl oxidase like protein 2 (LOXL-2) is an enzyme that is involved in the development of hepatic fibrosis and bile duct epithelial injury in hepatic cholestasis. Our aim was to investigate maternal serum levels of LOXL-2 and their relationship with fasting total bile acid (FTBA) levels in patients with intrahepatic cholestasis of pregnancy (ICP).
Materials And Methods: Thirty-five pregnant women with ICP and 35 healthy women with uncomplicated pregnancies as the control group, were included in this cross-sectional study.
J Matern Fetal Neonatal Med
May 2022
Background: We aimed to explore TREM-1 activation in pregnant women who has preeclampsia through the measurement of its soluble form sTREM.
Methods: A prospective cohort study was conducted. Participants were recruited from antenatal clinic between 1 May 2019 and 31 August 2019, and they all provided written informed consent for participation.
Annu Int Conf IEEE Eng Med Biol Soc
July 2020
Air Traffic Control (ATC) has been classified as the fourth most stressful job. In this regard, sixteen controllers were asked to perform ecological ATC simulation during which behavioral (Radio Communications with pilots - RCs), subjective (stress perception) and neurophysiological signals (brain activity and skin conductance - SC) were collected. All the considered parameters reported significant changes under high stress conditions.
View Article and Find Full Text PDFStress is a word used to describe human reactions to emotionally, cognitively and physically challenging experiences. A hallmark of the stress response is the activation of the autonomic nervous system, resulting in the "fight-freeze-flight" response to a threat from a dangerous situation. Consequently, the capability to objectively assess and track a controller's stress level while dealing with air traffic control (ATC) activities would make it possible to better tailor the work shift and maintain high safety levels, as well as to preserve the operator's health.
View Article and Find Full Text PDFObjective: This multi-center study aims to determine the efficiency and safety of endometrial myomectomy (EM) for the removal of uterine fibroids during cesarean section (CS).
Methods: Retrospective review of 360 women diagnosed for fibroids during pregnancy. They all delivered by CS between 2014 and 2019.
J Matern Fetal Neonatal Med
September 2021
Introduction: Severe fetal anemia may cause cardiac ischemia, reduced contractility, and dysfunction. The purpose of our study is to evaluate right ventricular myocardial performance index (MPI) before and after intrauterine transfusion (IUT) in patients who underwent this procedure because of fetal anemia due to Rh-D alloimmunization.
Materials And Methods: This prospective cohort study was conducted between January 2018 and June 2019 at Kanuni Sultan Suleyman Research and Training Hospital, Istanbul, Turkey.
J Matern Fetal Neonatal Med
March 2020
To investigate maternal serum galectin-1 and galectin-3 levels in pregnancies complicated with preterm prelabor rupture of membranes (PPROM) and to compare with pregnancies delivered at term. In this cross-sectional study, 40 women with singleton pregnancies complicated with PPROM between 24 and 34 weeks of gestation were compared with gestational age-matched 40 pregnant women with no obstetrics complications, who delivered at term. The maternal serum galectin-1 and galectin-3 levels were measured.
View Article and Find Full Text PDFMol Genet Genomic Med
July 2019
Background: Next-generation sequencing (NGS) and discovery of fetal cell-free DNA (cfDNA) in the maternal circulation render possible prenatal screening for trisomy 21 (Down syndrome), trisomy 18, trisomy 13, and sex chromosome aneuploidies. The approach is called "fetal cfDNA screening" and in contrast to noninvasive conventional serum screening, it provides the identification of 98%-99% of fetuses with Down syndrome.
Methods: Retrospective analysis of targeted noninvasive prenatal testing (NIPT) (Clarigo Test) pregnancies with moderate risk, which we have reported between 2016 and 2018 years is presented.
Gynecol Endocrinol
October 2019
The aim of the study was to investigate the pancreatic-derived factor (PANDER) levels in healthy pregnant women and in pregnant women with gestational diabetes mellitus (GDM). A total of 50 women consecutively diagnosed with GDM and 30 randomly selected age-matched and gestational-age-matched healthy pregnant women were included in this cross-sectional study. Serum PANDER levels and other variables were analyzed.
View Article and Find Full Text PDFJ Matern Fetal Neonatal Med
February 2020
To investigate thiol/disulfide homeostasis (TDH) and thioredoxin domain-containing 5 (TXNDC5) level in early and late-onset preeclampsia. In this cross-sectional study, 24 pregnant women with early-onset preeclampsia and 26 pregnant women with late-onset preeclampsia were compared with 30 pregnant women with no obstetric complications. The serum TXNDC5 levels and thiol/disulfide homeostasis were measured.
View Article and Find Full Text PDFHypertens Pregnancy
November 2018
Objective: Growth differentiation factor-15 (GDF-15) is a stress-induced cytokine and related to the prognosis of cardiovascular diseases. Our purpose is to measure the maternal levels of GDF-15 in patients with early-onset preeclampsia (EOPE) and late-onset preeclampsia (LOPE).
Methods: This cross-sectional study was conducted including 72 pregnant women, 23 with normal pregnancies and 49 with preeclampsia (26 with EOPE and 23 with LOPE).
Purpose: To investigate the cause of congenital anomalies resulted from gestational diabetes on fetal cardiac tissue in experimental animal study model.
Methods: Totally 12 female Wistar albino rats were divided into two groups, each consisting of 6 rats. Streptozotocin (60 mg/kg) was administered intraperitoneally to the study group by dissolving in citrate solution.
J Matern Fetal Neonatal Med
August 2019
Objective: To investigate Phosphorylated adenosine monophosphate activated protein kinase (AMPK) levels in healthy pregnant women and pregnant women with preeclampsia (PE).
Methods: Twenty-eight women with mild-PE, 22 with severe-PE, and 30 normotensive controls were included in this cross-sectional study. The serum AMPK levels of these patients were analyzed.
We analyze the issue of agency costs in aviation security by combining results from a quantitative economic model with a qualitative study based on semi-structured interviews. Our model extends previous principal-agent models by combining the traditional fixed and varying monetary responses to physical and cognitive effort with nonmonetary welfare and potentially transferable value of employees' own human capital. To provide empirical evidence for the tradeoffs identified in the quantitative model, we have undertaken an extensive interview process with regulators, airport managers, security personnel, and those tasked with training security personnel from an airport operating in a relatively high-risk state, Turkey.
View Article and Find Full Text PDFBackground: The exchange of substances between mother and fetus via the placenta plays a vital role during development. A number of developmental disorders in the fetus and placenta are observed during diabetic pregnancies. Diabetes, together with placental apoptosis, can lead to developmental and functional disorders.
View Article and Find Full Text PDFJ Turk Ger Gynecol Assoc
June 2014
Objective: In this experimental study, we aimed to investigate the role of melatonin on uterine myoelectrical activity of non-pregnant rats.
Material And Methods: Forty-six female rats were assigned to six groups: (1) control; (0.2 mL 0.