Direct embryonic biopsy with transcervical embryoscopy is an effective method for karyotyping and morphology assessment in miscarriages.

Purpose: The main purpose of this study is to compare the validity of transcervical embryoscopy method with standard uterine evacuation method in detecting more accurate karyotypes in miscarriages below tenth week of pregnancy. Additionally, the frequency and distribution of fetal morphological abnormality were evaluated.

Methods: A prospective study was carried out at the Gazi University Faculty of Medicine, Department of Obstetrics and Gynecology.

The interrelation between the high expression level of MIR34a and the trisomic abortion materials.

Aims: The underlying mechanism and constitution of spontaneous abortions are complicated and heterogeneous. Many factors, including epigenetic scenarios like micro-ribonucleic acids (miRNAs, MIRs), can additively affect the progression of pregnancy losses. This study aimed to evaluate whether the expression levels of placental inhibitor and/or activator miRNAs had a difference between the numerically abnormal and normal karyotyped spontaneous abortions.

The relationship between the clinical course of SARS-CoV-2 infections and ACE2 and TMPRSS2 expression and polymorphisms.

Background: The viral spike (S) protein and host ACE2 and TMPRSS2 genetic variations may act as a barrier to viral infections or determine susceptibility to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections.

Objectives: We investigated the relationship between the expression patterns and polymorphisms of the ACE2 and TMPRSS2 receptor genes associated with coronavirus disease 2019 (COVID-19) and the clinical course of SARS-CoV-2 infections.

Material And Methods: We examined 147 COVID-19 patients (41 asymptomatic, 53 symptomatic and 53 cases treated in the intensive care unit (ICU)) and 33 healthy controls.

[Investigation of the Relationship Between IL28B Polymorphisms and Plasma IL28B Levels in Patients with Chronic Hepatitis B or C].

Some single nucleotide polymorphisms (SNPs) of the gene encoding interleukin 28B (IL28B) may increase susceptibility to infection and chronicity in humans with hepatitis B and C viruses. In our study, we aimed to investigate the prevalence of rs12979860, rs8099917 and rs12980275 SNPs in IL28B in patients with hepatitis B (HBV) or hepatitis C Virus (HCV) infection and to determine the relationship of these polymorphisms with plasma IL28B levels. For this purpose, 64 HBV-infected and 66 HCV-infected patients and 70 healthy individuals were included in the study.

Retrospective analysis of the association of the expression and single nucleotide polymorphisms (SNPs) of the TLR4, PTX3 and Dectin-1 (CLEC/A) genes with development of invasive aspergillosis among haematopoietic stem cell transplant recipients with oncohaematological disorders.

Objectives: Several studies described single nucleotide polymorphisms (SNPs) on pattern recognition receptor (PRR) such as toll-like receptors (TLRs), dendritic cell-associated C-type lectin-1 (Dectin-1/CLEC7A) genes of patients with invasive fungal infections (IFIs) caused by Candida and Aspergillus. We screened TLR4, Dectin-1 and PTX3 polymorphisms in a Turkish population with invasive aspergillosis (IA) underlying haematological malignancies.

Methods: In this case-control study, a cohort of 59 patients with haematological malignancies were included.

Expression of the syncytin-1 and syncytin-2 genes in the trophoblastic tissue of the early pregnancy losses with normal and abnormal karyotypes.

Background: Syncytin-1 and syncytin-2 which are endogenous retroviral genes products play a great role in syncytialization during trophoblast differentiation in normal placental tissues. In aneuploidic placentas due to the low level of pregnancy-induced hormones an alteration was occurred in the syncytialization process, while in the presence of cytogenetically abnormal karyotype the effect of syncytin gene expression levels on syncytialization process and in occured to spontaneous abortions is not clear. To reveal this, we investigated in syncytin-1 and syncytin-2 genes expression levels of chromosomally abnormal and normal trophophoblastic tissues and we also discussed the effect of the syncytin gene expression levels to the occurense of the spontaneous abortion.

Clinical findings in cases with 9q deletion encompassing the 9q21.11q21.32 region.

Tuğ E, Ergün MA, Perçin EF. Clinical findings in cases with 9q deletion encompassing the 9q21.11q21.

The relation between isolated micropenis in childhood with CAG and GGN repeat polymorphisms in the androgen receptor gene.

Background/aim: In micropenis cases accompanied by external genital abnormalities such as hypospadias and cryptorchidism, infertility and spermatogenic failures have been reported to correlate with androgen receptor ( AR ) gene CAG and GGN repeat polymorphisms. While there is one study on isolated micropenis and CAG repeats, no study related to GGN repeats has been reported. We investigated the relation between CAG and GGN repeats in the AR gene with development of penis length in boys with isolated micropenis.

Microdeletion and mutation analysis of the SHOX gene in patients with idiopathic short stature with FISH and sequencing.

Background/aim: The aim of this study was to investigate the prevalence of the microdeletions and mutations of the SHOX gene in children with idiopathic short stature (ISS) by the usage of fluorescence in situ hybridization (FISH) and direct sequencing technique. Materials and methods: Thirty-seven children referred to our clinic because of short stature were classified as having ISS after clinical examination. Chromosome analyses, FISH analysis of the SHOX gene, and direct sequencing of the coding exons of SHOX , through the second to the sixth exon, in 24 of the 37 patients were also performed.

Confirmation of the prenatal mosaic trisomy 2 via fetal USG and cytogenetic analyses.

Mosaic trisomy 2 in second-trimester amniocentesis is a very rare aneuploidy. The outcome of the pregnancies is quite variable, spontaneous abortions are frequent. A 37-year old woman underwent amniocentesis at 18 weeks of gestation because of abnormal serum screening with single umbilical artery (SUA) and cardiac dextroposition in fetal ultrasound (USG), and the cytogenetic result was 47,XX,+2[12]/46,XX[73].

Chromosomal-array analysis reveals partial 11q duplication and partial 12p deletion in a mildly affected case.

Partial trisomy 11q is a rare syndrome and may be observed due to an intra-chromosomal duplication or an inter-chromosomal insertion. The deletions of the short arm of chromosome 12 are also uncommon structural aberrations. Only a small fraction of structural chromosome anomalies are related to the unbalanced progeny of balanced translocation carrier parents.

Unique variant of Adams-Oliver syndrome with dilated cardiomyopathy and heart block.

Reported herein is the case of a 2-year-old boy with Adams-Oliver syndrome who presented with dilated cardiomyopathy and complete atrioventricular block. The patient had aplasia cutis congenita with partial aplasia of the skull bones, and terminal transverse limb malformations characteristic of the disease. Although congenital cardiac malformations may be associated with the syndrome, dilated cardiomyopathy has not been previously reported to be associated with the syndrome.

A Turkish family with Nance-Horan Syndrome due to a novel mutation.

Nance-Horan Syndrome (NHS) is a rare X-linked syndrome characterized by congenital cataract which leads to profound vision loss, characteristic dysmorphic features and specific dental anomalies. Microcornea, microphthalmia and mild or moderate mental retardation may accompany these features. Heterozygous females often manifest similarly but with less severe features than affected males.

The effect of octreotide, an analog of somatostatin, on bleomycin-induced interstitial pulmonary fibrosis in rats.

In this study, octreotide (OCT), a synthetic somatostatin analog, was tested for its beneficial effects in the prevention of interstitial pulmonary fibrosis (IPF) induced by bleomycin (BLM) in rats by histological examination and by evaluating tissue OH-proline levels. Thirty male Wistar rats were divided randomly into three groups: group I: intratracheal (i.t.

Identification of an Alu-mediated 12.2-kb deletion of the complete LPAR6 (P2RY5) gene in a Turkish family with hypotrichosis and woolly hair.

Hypotrichosis is a rare form of progressive hair loss characterized by sparse and occasionally woolly hair that is curly and breaks easily. Disease-causing mutations in LIPH, LPAR6 and KRT74 have recently been identified. We describe a four-generation pedigree from Turkey following an autosomal recessive pattern, in which the four affected members had hypotrichosis and woolly hair.

Mapping of microsatellite instability in endoscopic normal colon.

Genomic instability in colorectal cancer (CRC) occurs as either microsatellite instability (MSI) or chromosomal instability. The present study was aimed at examining the MSI for the MLH1 and MSH2 genes in normal colon and polyps, if detected. Four segments of the colon were sampled in 102 subjects during colonoscopy.

Cochlear involvement in Familial Mediterranean Fever: a new feature of an old disease.

Objectives: In this study we first aimed to assess the cochlear functions in children with Familial Mediterranean Fever. The second aim was to investigate the correlation between the hearing levels and some clinical features of Familial Mediterranean Fever including the duration of the disease, age at onset, genetic analysis and colchicine use.

Methods: Thirty-four children with Familial Mediterranean Fever and 27 age matched children were included in the study.

Relationship between primary nodal generalized osteoarthritis with tissue antigens HLA-A and HLA-B in the western Black Sea region of Turkey.

Objective: To investigate the relationship between patients diagnosed with nodal generalized osteoarthritis (NGOA) and tissue antigens HLA-A and HLA-B in the Western Black Sea Region of Turkey.

Patients And Methods: Forty-six patients with NGOA (64.74±8.

Frequency of genetic mutations associated with thromboembolism in the Western Black Sea Region.

Objective: We aimed to determine the prevalences of important genetic causes of thromboembolism for the first time in the western Black Sea Region of Turkey.

Patients And Methods: One hundred and eighty-eight patients diagnosed early with thrombophilia were included in the study. The samples were genotyped using real-time LightCycler.

Interleukin-10 gene promoter polymorphism in patients with schizophrenia in a region of East Turkey.

Schizophrenia is one of the most severe psychiatric disorders, with a worldwide incidence of 1%. Immunological abnormalities have been found to be associated with schizophrenia for decades. Cytokines are key proteins involved in the immune system activation.

The value of interleukin-12B (p40) gene promoter polymorphism in patients with schizophrenia in a region of East Turkey.

Aims: It has been hypothesized that the activation of the immune system may be involved in the neuropathological changes occurring in the central nervous system of schizophrenic patients. Cytokines play a key role in the activation of the immune system. Moreover, they strongly influence the dopaminergic, noradrenergic and serotonergic neurotransmission.

Tumor suppressor gene alterations in patients with malignant mesothelioma due to environmental asbestos exposure in Turkey.

Background: Environmental asbestos exposure can cause the grave lung and pleura malignancies with a high mortality rate, and it is also associated with increased rate of other organ malignancies. Asbestos exposure can develop genotoxic effects and damage in the pleura and lungs.

Objective: In this study, we aimed to determine tumor suppressor gene (TSG) loss in genomic DNA which was isolated from pleural fluid and blood samples of patients with Malignant Pleural Mesothelioma (MPM) due to environmental asbestos exposure.