Muhammet Ensar Dogan

Increased vitamin D receptor gene expression and rs11568820 and rs4516035 promoter polymorphisms in autistic disorder

Although there are a large number of sequence variants of different genes and copy number variations at various loci identified in autistic disorder (AD) patients, the pathogenesis of AD has not been elucidated completely. Recently, in AD patients, a large number of expression array and transcriptome studies have shown an increase in the expression of genes especially related to innate immune response. Antimicrobial effects of vitamin D and VDR are exerted through Toll-Like-Receptors (TLR) which have an important role in the innate immune response, are expressed by antigen presenting cells and recognize foreign microorganisms. In this study, age and gender matched 30 patients diagnosed with AD and 30 healthy controls were included in the study. Comparatively whole blood VDR gene expression and rs11568820 and rs4516035 SNP profile of the promoter region of the VDR gene were investigated by real time PCR. Whole blood VDR gene expression was significantly higher in the AD group compared to control subjects (p < 0.0001). There were no significant differences among allele and genotype distribution of rs11568820 and rs4516035 polymorphisms between AD patients and controls. The increase of VDR gene expression in patients with AD may be in accordance with an increase in the innate immune response in patients with AD. Furthermore, this study will stimulate new studies in order to clarify the relationship among AD, vitamin D, VDR, and innate immunity.

Prenatal diagnosis of upper extremity malformations with ultrasonography: Diagnostic features and perinatal outcome

The aim of this study was to assess the sonographic (US) characteristics, associated malformations, chromosomal status, and perinatal outcomes of fetuses with an upper extremity malformation (UEM) detected by US examination.

EP11.03: Prenatal diagnosis of upper extremity malformations with ultrasonography: diagnostic features and perinatal outcome.

Objectives: The objective of this study was to evaluate associated chromosomal anomalies and sonographic findings, as well as the perinatal outcome in fetuses with the agenesis of ductus venosus (ADV). Methods: The data of 16 ADV cases diagnosed in Istanbul Faculty of Medicine between 2005 and 2015 were reviewed retrospectively. Results: The average gestational age at diagnosis was 25.8 weeks. In all cases umbilical venous drainage was extrahepatic. Aberrant umbilical vein drained to inferior vena cava in 9 cases and directly to right atrium in 7 cases. In 4 cases extracardiac, in 7 cases cardiac findings were associated. In 6 cases ADV was isolated, and no chromosomal anomaly was detected in these cases. In three fetuses karyotype anomaly was detected; 46XY,t(1;6)(q23,1;q21) in one case and trisomy 21 in two cases. In the former fetus the agenesis of portal venous system was detected, while in the latter two, several anomalies such as double bubble, ventriculomegaly, nasal bone hypoplasia and AVSD were associated. In these three cases with chromosomal anomalies and in another with AVSD, right isomerism and portohepatic shunt, the pregnancy was terminated. Four babies with concominant cardiac anomalies died in the neonatal period. Six isolated cases and another case with persistence cloaca are currently alive and healthy. The postnatal data in one case could not be reached. Conclusions: The outcome of ADV is very good in isolated cases. The prognosis of ADV depends on the concominant structural and chromosomal anomalies. Portal venous system must also be evaluated, since anomalies in this system can be associated.