Sabriye Kocatürk-Sel

Environmental enrichment does not reverse the effects of maternal deprivation on NMDAR and Balb/c mice behaviors

Early adverse life experiences have been associated with anxiety-like behavior and memory impairment. N-methyl-d-aspartate receptors (NMDARs) play an important role in brain development. Enriched environments are known to positively influence emotional and cognitive functions in the brain. We examined the effects of maternal deprivation (MD) on NMDAR subunits in the hippocampus, locomotor activity, anxiety behaviors, and learning-memory performance of Balb/c mice. We also examined whether these effects could be reversed by raising the offspring in an enriched environment. The mice were separated from their mothers for a single 24h episode on postnatal day (PND) 9. The mice were weaned on day 21 and were housed under either standard (SE) or enriched (EE) environmental conditions. Emotional behaviors and cognitive processes of mice were evaluated using an open field (OF) test, an elevated plus maze (EPM) test, and a Morris water-maze (MWM). NMDAR subunits (GluN1, GluN2A, and GluN2B) mRNA expression levels in the hippocampus were examined by real-time PCR. In OF, MD had no effect on horizontal locomotor activity. MD increased anxiety-like behaviors in the EPM and decreased spatial learning performance in MWM; however, these effects were not reversed by EE. MD (in SE and EE conditions) increased GluN1, GluN2A, and GluN2B mRNA expressions in the hippocampus. In conclusion, MD led to the deterioration of the emotional and cognitive processes during adulthood. Moreover, environmental enrichment did not reverse the deleterious effects of the MD on emotional and cognitive functions and increased the NMDAR levels.

Detection of Parental Origin and Cell Stage Errors of a Double Nondisjunction in a Fetus by QF-PCR

AIM To investigate parental origins and cell stage errors of a double nondisjunction in a fetus. METHOD For the determination of the most common chromosome anomalies, quantitative fluorescent polymerase chain reaction method using short tandem repeat (STR) DNA markers was applied to a fetus with abnormal ultrasonographic findings. Parental origin and cell stage errors of the trisomies were inferred by comparing the inherited STR alleles. Conventional cytogenetic technique was also applied for the confirmation of the aneuploidies. RESULTS A double nondisjunction including chromosomes 21 and X (48,XXX,+21) was detected prenatally in the fetus. The origin of both chromosomes was maternal, and the errors were in meiosis I for 21 and meiosis II for X. Molecular results were concordant with cytogenetic results. CONCLUSION Molecular techniques could be useful for the pre- and postnatal diagnosis of the common aneuploidies and determining its parental origin. This kind of study will improve knowledge about the mechanisms of nondisjunction and enable appropriate and rapid genetic counseling.

Genetic polymorphisms of estrogen receptor alpha and catechol-O-methyltransferase genes in Turkish patients with familial prostate carcinoma.

OBJECTIVES: Estrogen is one of the most crucial hormones participating in the proliferation and carcinogenesis of the prostate glands. Genetic polymorphisms in the estrogen metabolism pathway might be involved in the risk of prostate carcinoma development. We evaluated the association between genetic polymorphisms in estrogen receptor alpha (ESR1) and catechol-O-methyltransferase (COMT) genes and the risk of developing familial prostate carcinoma. MATERIALS AND METHODS: In this study, 34 cases with prostate carcinoma whose first-degree relatives had prostate carcinoma and 30 healthy age-matched male controls were enrolled. The genotypes of ESR1 and COMT genes were analyzed employing polymerase chain reaction-restriction fragment length polymorphism method. 34 cases with prostate carcinoma, whose first degree relatives had prostate carcinoma and 14 age-matched male controls were enrolled to analyze the genotype of these two genes. RESULTS: Among control patients, the ESR1 PvuII genotypes of C/C, C/T and T/T were observed in 37%, 26% and 37%, respectively, whereas the C/C, C/T and T/T genotypes were observed in 18%, 41% and 41% of case patients, respectively. Among controls, the ESR1 PvuII allele frequencies of C and T were equally observed, whereas the C and T allele frequencies were observed in 38% and 62% of patients, respectively. Among ESR1 PvuII genotypes there were not any significant difference in terms of genotype (P = 0.199) and allele (P = 0.181) frequencies. Among controls, the ESR1 XbaI genotypes of G/G, G/A and A/A were observed in 33%, 37% and 33%, respectively, whereas the G/G, G/A and A/A genotypes were observed in 12%, 47% and 41% of patients, respectively. Among controls, the ESR1 XbaI allele frequencies of A and G were observed equally, respectively, whereas the A and G frequencies were observed in 65% and 35% of patients, respectively. Among ESR1 Χ baI, there was not any significant difference in terms of genotype (P = 0.111) and allele (P = 0.093) frequencies. But the C/C genotype of the PvuII site and G/G genotype of the XbaI site in the ESR1 gene were associated significantly with the risk of developing prostate carcinoma. The G/G, G/A and A/A genotypes of the COMT gene were observed in 50%, 29% and 21% of control patients and in 53%, 21% and 26% of case patients, respectively. The A and G allele frequencies of the COMT gene were observed in 36.7%, 63.3% of control patients and in 36.8%, 63.2% of case patients, respectively. In COMT gene, there was not any significant difference in terms of genotype (P = 0.843) and allele (P = 0.991) frequencies. But the G/A genotype of the COMT gene had a weak tendency toward increased risk. CONCLUSION: Polymorphisms of ESR1 gene in the estrogen metabolism pathway were associated significantly with familial prostate carcinoma risk. Single nucleotide polymorphisms of low-penetrance genes are targets for understanding the genetic susceptibility of familial prostate carcinoma.

The Reliability of Maternal Serum Triple Test in Prenatal Diagnosis of Fetal Chromosomal Abnormalities of Pregnant Turkish Women

AIM The purpose of this article was to evaluate the reliability of maternal serum triple marker screening of alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol for the prenatal diagnosis of fetal chromosomal abnormalities in Turkish pregnant women. METHOD Medical records were used to analyze indications of amniocentesis and quantitative fluorescent-polymerase chain reaction. Anomaly screening was performed for all patients between 13 and 22 weeks of pregnancy. A total of 1725 pregnancies with chromosomal abnormality risk according to triple test screening were accepted for fetal chromosome analysis and quantitative fluorescent-polymerase chain reaction. RESULTS Chromosomal aberrations were observed in 56 (3.2%) cases. About 44.6% of the abnormalities detected were numerical aberrations; however, 55.3% of the abnormalities were structural aberrations. Abnormalities detected were inversion of chromosome 9 in 20 cases, trisomy 21 in 14 cases, 46,XX/47,XX, +21 in 1 case, trisomy 18 in 2 cases, trisomy 13 in 1 case, 47,XXY, in 1 case, 45,X, in 1 case, structural abnormalities in 12 cases, and mosaic or tetraploidy in 6 cases. CONCLUSION Second trimester triple test is an effective screening tool for detecting fetal Down syndrome in Turkish women.

ATP sensitive K+ channel subunits (Kir6.1, Kir6.2) are the candidate mediators regulating ameliorating effects of pulsed magnetic field on aortic contractility in diabetic rats

Diabetes mellitus is a metabolic disease that causes increased morbidity and mortality in developed and developing countries. With recent advancements in technology, alternative treatment methods have begun to be investigated in the world. This study aims to evaluate the effect of pulsed magnetic field (PMF) on vascular complications and contractile activities of aortic rings along with Kir6.1 and Kir6.2 subunit expressions of ATP-sensitive potassium channels (KATP ) in aortas of controlled-diabetic and non-controlled diabetic rats. Controlled-diabetic and non-controlled diabetic adult male Wistar rats were exposed to PMF for a period of 6 weeks according to the PMF application protocol (1 h/day; intensity: 1.5 mT; consecutive frequency: 1, 10, 20, and 40 Hz). After PMF exposure, body weight and blood glucose levels were measured. Then, thoracic aorta tissue was extracted for relaxation-contraction and Kir6.1 and Kir6.2 expression experiments. Blood plasma glucose levels, body weight, and aortic ring contraction percentage decreased in controlled-diabetic rats but increased in non-controlled diabetic rats. PMF therapy repressed Kir6.1 mRNA expression in non-controlled diabetic rats but not in controlled diabetic rats. Conversely, Kir6.2 mRNA expressions were repressed both in controlled diabetic and non-controlled diabetic rats by PMF. Our findings suggest that the positive therapeutic effects of PMF may act through (KATP ) subunits and may frequently occur in insulin-free conditions. Bioelectromagnetics. 39:299-311, 2018.

Identification of the short arm of the Y chromosome by cytogenetic and molecular analyses

Isochromosome Y is one of the structural anomalies of the Y chromosome associated with a 45,X cell line and a broad spectrum of phenotypes. We present a case of de novo 46,X,+mar detected in a 17-yearold male patient. He had shortening of the right leg, bilateral breast enlargement, pubic, underarm and facial hair development, small penis and testicles, low serum cortisol, ACTH and total testosterone levels, normal LH value, high FSH value, normal testicles and epididymis, minimal left varicocele. The chromosome aberration was detected by cytogenetic analysis. Cytogenetic and molecular analysis was performed by conventional karyotyping and quantitative florescence PCR, respectively. The molecular analyses by PCR detected the presence of the SRY and AMXY genes, confirming the presence of the short arm of the Y chromosome. PCR demonstrated that the marker chromosome is of Y origin and corresponds to an authentic isochromosome for the short arm of the Y chromosome, i(Yp). We suggest that the structural alteration of the Y chromosome was a new mutation, which occurred in the initial mitotic division of the embryo, originally 46,XY. The result of accurate evaluation provides correct sex assignment and the prevention of the neoplastic degeneration of a dysgenetic gonad. The karyotype 46,X,i(Yp) indicates that the patient is preserving the SRY gene.

Report of a new case with pentasomy X and novel clinical findings.

Abstract Pentasomy X is an extremely rare sex chromosome abnormality, a condition that only affects females, in which three more X chromosomes are added to the normally present two chromosomes in females. We investigated the novel clinical findings in a 1-year-old female baby with pentasomy X, and determined the parental origins of the X chromosomes. Our case had thenar atrophy, postnatal growth deficiency, developmental delay, mongoloid slant, microcephaly, ear anomalies, micrognathia and congenital heart disease. A conventional cytogenetic technique was applied for the diagnosis of the polysomy X, and quantitative fluorescent polymerase chain reaction (QF-PCR) using 11 inherited short tandem repeat (STR) alleles specific to the chromosome X for the determination of parental origin of X chromosomes. A cytogenetic evaluation revealed that the karyotype of the infant was 49,XXXXX. Comparison of the infant’s features with previously reported cases indicated a clinically recognizable specific pattern of malformations referred to as the pentasomy X syndrome. However, to the best of our know-ledge, this is the first report of thenar atrophy in a patient with 49,XXXXX. The molecular analysis suggested that four X chromosomes of the infant originated from the mother as a result of the non disjunction events in meiosis I and meiosis II. We here state that the clinical manifestations seen in our case were consistent with those described previously in patients with pentasomy X. The degree of early hypotonia constitutes an important early prognostic feature in this syndrome. The pathogenesis of pentasomy X is not clear at present, but it is thought to be caused by successive maternal non disjunctions.

Çukurova Populasyonunda Gebelik Zamanı ve Maternal Yaşın Fetal Cinsiyet Oranı Üzerine Olan Etkisi

Amac: Bu calismanin amaci, cukurova ve cevresindeki populasyonda konsepsiyon ayi, ebeveynlerin yaslari, mevsimsel degisimler, ebeveynlerin alkol ve sigara kullanim durumlari gibi cevresel degiskenlerin fetal cinsiyet oranini etkileyip etkilemediklerini tespit etmektir. Materyal ve Metod: Bu calismada, 2005-2007 yillari arasinda amniyosentez maksadiyla prenatal tani laboratuvarimiza yonlendirilen hastalarin verilerini analiz ettik. Istatistiksel analiz icin ki-kare, Fishers exact ve T testlerini uyguladik. Bulgular: Konsepsiyon zamani ile primer cinsiyet orani arasinda bir iliski tespit edilemedi. Aylara gore primer cinsiyet oranindaki degisimlerin istatistiksel olarak anlamli olmadigi gozlendi. Istisna olarak eylul ayindaki degisim kaydedildi. Eylul ayinda istatistiksel olarak anlamli bir sekilde cinsiyet oraninin erkege dogru degistigi saptandi (erkek:kadin orani=1.8). Sonuc: Yaz/sonbahar fotoperiyodunda bulunan eylul ayindaki iklimsel degisimin, cinsiyet oranindaki bu farklilasmayi etkiledigini dusunmekteyiz.