The role of temporal changes of pro-inflammatory cytokines in the development of adverse cardiac remodeling after ST-elevation myocardial infarction.

Introduction: Increasing evidence supports the view that pro-inflammatory cytokines play a role in fibrosis after myocardial infarction (MI). It has been suggested that interleukin (IL)-12p40, a pro-inflammatory cytokine, can induce interferon γ (IFN-γ) and matrix metalloproteinase (MMP). However, the role of IL-12p40 in adverse cardiac remodeling (AR) after ST-elevation MI (STEMI) is unclear.

Low sCD163/TWEAK Ratio at First Day After Acute Myocardial Infarction Associated with Adverse Cardiac Remodeling in Non-Elderly Patients.

Aim    In this study, we aimed to investigate the role of sCD163 / tumor necrosis factor-like weak apoptosis-inducing (TWEAK) ratio in cardiac remodeling in non-elderly patients diagnosed with first acute myocardial infarction (MI).Material and Methods    Forty-four patients (age ranges: 40-64 years) diagnosed with first-time acute ST-elevation MI in the emergency department were evaluated with cardiac magnetic resonance (CMR) imaging. Adverse remodeling (AR) was defined the increases of left ventricular end-diastolic volume by ≥12 % by CMR at 6‑month post-MI TWEAK and sCD163 were measured at the first day (baseline), 2 weeks and 6 weeks post-MI.

De novo interstitial deletion of 11q14.3q22 in a boy with mild intellectual disability and short stature.

Background: Interstitial deletions of the 11q region are infrequent. Nonrecurrent chromosomal rearrangements are observed with high variability in size and precise breakpoints of the deleted area. Moreover  heterogeneous clinical findings are observed in those harboring 11q interstitial deletions.

The Role of Interferons in Cardiac Remodeling after Acute Myocardial Infarction.

Objective: To determine the relationship of serial interferon (IFN) measurements and adverse cardiac remodeling (AR) after myocardial infarction (MI).

Study Design: Observational multi-centre study.

Place And Duration Of Study: Departments of Cardiology of Diskapi Yildirim Beyazit Training and Research Hospital, Ataturk Training and Research Hospital, Numune Training and Research Hospital, and Dr.

Higher levels of TWEAK and matrix metalloproteinase-3 during the acute phase of myocardial infarction are associated with adverse left ventricular remodeling.

Introduction: It is known that the levels of tumor necrosis factor-like weak inducer of apoptosis (TWEAK/TNFSF12) increase after myocardial infarction (MI) and that it interacts with sCD163. It has also been argued that TWEAK can induce matrix metalloproteinases (MMPs) in macrophages.

Aim: To investigate the roles of TWEAK, sCD163, and MMPs in left ventricular (LV) adverse remodeling (AR) in the early post-MI period.

Determination of microRNAs associated with adverse left ventricular remodeling after myocardial infarction.

Increasing evidence indicates that microRNA (miRNA) regulated mechanisms in myocardial healing and ventricular remodeling following acute myocardial infarction (AMI). We aim to comprehensively investigate changes of exosomal miRNA profile during the post-MI period and determine potential miRNAs associated to adverse left ventricular remodeling (ALVR). We prospectively evaluated ST-elevated MI patients with cardiac magnetic resonance imaging at the 2 weeks and 6 months after AMI (n = 10).

Evaluation of the relationship between anti-inflammatory cytokines and adverse cardiac remodeling after myocardial infarction.

Aim    To clarify the role of interleukin (IL) - 10 and members of its subfamily (IL-19 and IL-26) in cardiac remodeling during the post-myocardial infarction (MI) period.Material and methods    A total of 45 patients with ST-segment elevation MI were enrolled. Serum cytokine concentrations were measured at the first day and 14 days post-MI.

Double Heterozygous Mutations in the and Genes: A Case Report and Review of the Literature.

Introduction: Germline mutations of the and genes are responsible for about a quarter of hereditary breast cancers (BCs). In this study, we aimed to determine the importance of rare double heterozygous (DH) pathogenic variant carriership in and genes in a patient diagnosed with BC and pancreas cancer (PC).

Case Report: A 54-year-old female patient was diagnosed with BC at the age of 34 years and with PC at the age of 48 years.

Renpenning Syndrome in a Turkish Patient: de novo Variant c.607C>T in and Hypogammaglobulinemia Phenotype.

Renpenning syndrome is an X-linked intellectual disability syndrome caused by mutations in the human polyglutamine binding protein 1 () gene characterized by intellectual disability (ID), microcephaly, and dysmorphic facial features. We report a Turkish child with a novel pathogenic variant in and a likely pathogenic variant in the gene presenting with growth restriction, microcephaly, ID, micropenis, bilateral iris coloboma, and hypogammaglobulinemia. Cytogenetic investigations, including a high-resolution-banded karyotype, were normal.

HNF1A gene p.I27L is associated with co-existing preeclampsia in gestational diabetes mellitus.

The association of the FTO gene and HNF1α gene on gestational diabetes mellitus (GDM) and preeclampsia remains unclear. This is the first study to examine whether HNF1α gene and FTO gene were associated with having GDM and preeclampsia in Turkish women. Healthy pregnant women ( = 101) and women with GDM ( = 169) were included.

Novel BRCA2 pathogenic genotype and breast cancer phenotype discordance in monozygotic triplets.

BRCA1/2 genes with high-penetrance are tumor suppressor and tumor susceptibility genes that play important roles in the homologous recombination mechanism in DNA repair and increase breast cancer risk. Variants in BRCA1 or BRCA2 are the main causes of familial and early-onset breast cancer. This study investigated pathogenic variant belonging to the BRCA2 gene splice region in monozygotic triplets.

Maternal genetic contribution to pre-pregnancy obesity, gestational weight gain, and gestational diabetes mellitus.

Introduction: Pre-pregnancy obesity, gestational diabetes mellitus (GDM), and gestational weight gain (GWG) are associated with each other. This is the first study to investigate whether genetic variants were associated with having GDM, and whether genetic variants-related GDM were associated with adiposity including pre-pregnancy obesity and excessive GWG in Turkish women.

Patients And Methods: Women with GDM (n = 160) and without GDM (n = 145) were included in case-controlled study.

HNF1A gene p.I27L is associated with early-onset, maturity-onset diabetes of the young-like diabetes in Turkey.

Background: The molecular basis of the Turkish population with suspected maturity-onset diabetes of the young (MODY) has not been identified. This is the first study to investigate the association between HNF1A-gene single-nucleotide polymorphisms (SNPs) and having early-onset, MODY-like diabetes mellitus in the Turkish population.

Methods: All diabetic patients (N = 565) who presented to our clinic between 2012 and 2015 with a clinical suspicion of MODY were included in the study.

The VDR gene FokI polymorphism is associated with gestational diabetes mellitus in Turkish women.

Background: The association between the vitamin D receptor (VDR) gene and gestational diabetes mellitus (GDM) has not been investigated in Turkish pregnant women. We aimed to investigate associations between VDR gene BsmI (rs15444410), ApaI (rs7975232), FokI (rs19735810), and TaqI (rs731236) single nucleotide polymorphisms (SNPs) and GDM.

Material-methods: This case-control study comprised 100 women with GDM and 135 pregnant women without GDM.

Melanocortin 3 receptor gene polymorphism is associated with polycystic ovary syndrome in Turkish population.

Polycystic ovary syndrome (PCOS) is a frequent complex disorder with an ill-defined etiology. Genetic factors seem rather effective at the occurrence of the disease, however, the evidence of established various studies results are unsatisfied. We aimed to make a contribution to the genetic baseline of the disease by investigating melanocortin 3 receptor gene polymorphism in affected patients.

Association of vitamin D receptor gene FokI and TaqI polymorphisms and risk of RDS.

Vitamin D and its receptor (VDR) have important roles in perinatal lung development. The objective of this study was to investigate the possible association between VDR FokI and TaqI polymorphism and development of respiratory distress syndrome (RDS) in preterm infants. A total of 173 premature infants <34 weeks: 82 with RDS and 91 without RDS were enrolled.

Association of MICA Alleles and Human Leukocyte Antigen B in Turkish Patients Diagnosed With Behçet's Disease.

Objectives: This study aims to investigate whether or not MHC class I polypeptide-related sequence A (MICA) polymorphisms are associated with the susceptibility to Behçet's disease (BD) in a Turkish population.

Patients And Methods: The study included 38 Turkish BD patients (20 males, 18 females; mean age 34±10.9 years) and 51 ethnically matched healthy controls (30 males, 21 females; mean age 36±12.

VDR gene FokI polymorphism as a poor prognostic factor for papillary thyroid cancer.

This is the first study to investigate the effect of vitamin D receptor ( VDR) gene single-nucleotide polymorphisms on the clinicopathologic features of papillary thyroid cancer in Turkey. A total of 165 patients with papillary thyroid cancer and 172 controls were included in this case-control study. VDR gene single-nucleotide polymorphisms FokI (rs2228570), BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236) were evaluated using reverse-transcription polymerase chain reaction.

Comparison of non-invasive tests with invasive tests in the diagnosis of celiac disease.

Background/aims: Today, invasive diagnostic tests are necessary for definite diagnosis of adult celiac disease (CD). However, in selected children patients, the need for invasive tests is ceased. In this study, we evaluated adult patients according to the ESPGHAN (European Pediatric Gastroenterology Hepatology and Nutrition Society) criteria.

Cytokine, C-Reactive Protein, and Heat Shock Protein mRNA Expression Levels in Patients with Active Behçet's Uveitis.

BACKGROUND To investigate the gene expression levels of interleukin 10 (IL10), IL18, interferon gamma (IFNG), IFN-gamma receptor (IFNGR), C-reactive protein (CRP), and heat shock protein 70 (HSP70) in patients with active Behçet's uveitis. MATERIAL AND METHODS Forty patients with Behçet's disease diagnosed according to the International Study Group criteria and 30 healthy individuals were included in the study. IL10, IL18, IFNG, IFNGR, CRP, and HSP70 gene expression levels were compared.

Vitamin D status, serum lipid concentrations, and vitamin D receptor (VDR) gene polymorphisms in Familial Mediterranean fever.

Vitamin D (VitD) is critical for the regulation of inflammatory processes, and VitD deficiency has been linked to several chronic inflammatory disorders. We aimed to investigate the concentrations of serum 25(OH)D3, lipid parameters, and three known VDR polymorphisms (BsmI, FokI, and TaqI) in patients with Familial Mediterranean fever (FMF), an autosomal recessive autoinflammatory disease. The study included 123 FMF patients and 105 controls.

Effects of immunosuppressive drugs on oral mucosa in patients with Behçet's disease: cytomorphological and cytopathological assessment.

Background/aim: The aim of this study was to investigate cytomorphological and cytopathological changes in oral exfoliated smears collected from immunosuppressed patients with Behçet's disease (BD) using stereological methods.

Materials And Methods: For cytomorphometric analysis, mucosal cell smears were obtained from the buccal mucosa and the floor of the mouths of BD patients treated with immunosuppressive drugs and from healthy volunteers. All mucosal smears from the patients and the healthy volunteers were stained using the Papanicolaou method and examined cytopathologically under light microscopy and cytomorphologically via the stereological nucleator method.

Role of p97/Valosin-containing protein (VCP) and Jab1/CSN5 in testicular ischaemia-reperfusion injury.

The most significant complication of testicular ischaemia is loss of the testis, which may lead to infertility. Testicular ischaemia damages protein degradation pathways which, together with the overproduction of damaged proteins and consequent upregulation of ubiquitin-conjugated protein aggregates. Despite recent advances, the factors leading to impairment of spermatogenesis owing to testicular ischaemia remain poorly understood.

Combined genetic mutations have remarkable effect on deep venous thrombosis and/or pulmonary embolism occurence.

Purpose: Although deep vein thrombosis and thromboembolic diseases differ among various races, they are still important in our day. The difficulties in treatment and following-up of these diseases are caused by secret genetic mutations rather than predisposing factors.

Methods: Between January 2011 and May 2013, patients who were traced for deep vein thrombosis and/or pulmonary embolism were evaluated retrospectively.