A Lipotoxic Medium Decreases the Number of Lipid Droplets in β Cells: One Possible Explanation of the β-Cell Failure in Patients With Hyperlipidemia Receiving Tacrolimus.

Objectives: Dyslipidemia is a risk factor for post- transplant diabetes mellitus, especially in patients who are taking tacrolimus. Although lipotoxicity of dyslipidemia leads to β-cell failure, the handling of lipids by β cells is a mystery in molecular endocrinology. Likewise, lipid droplet homeostasis is appreciated as a key component of lipid metabolism in cells like hepatocytes, but its role in β cells remains to be elucidated.

Uncoupling protein gene UCP1-3826A/G, UCP2 Ins/Del and UCP3-55C/T polymorphisms in obese Turkish children.

Background: Mitochondrial uncoupling proteins (UCP) 1, 2 and 3 are members of the anion carrier protein family located in the inner mitochondrial membrane. There are various controversial reports on UCP genotypes and obesity in adults and children. This study aims to investigate the link between mostly studied UCP polymorphisms (UCP1-3826A/G, UCP2 Insertion/Deletion (Ins/Del) polymorphism of exon 8, and UCP3-55C/T Polymorphisms) and obesity in Turkish children.

Investigation of the Relationship Between BK Virus and Human Leukocyte Antigens in Kidney Transplant Recipients.

Objectives: The main function of HLA is to present antigens to lymphocytes and to initiate specific immune responses. Autoimmune, viral, allergic, and neurologic diseases have been found to be related to HLA molecules. In renal transplant, the main target of the recipient's immune system is the HLA molecules on the surface of donor cells.

Aspirin resistance in cerebrovascular disease and the role of glycoprotein IIIa polymorphism in Turkish stroke patients.

Aspirin resistance occurs in 5-45% of high-risk patients, with various mechanisms proposed for its development. This study aimed to determine the relationships among aspirin resistance, aspirin dosage, type of aspirin and glycoprotein IIIa P1A1/A2 polymorphism in patients with vascular risk factors. Two hundred and eight (75 symptomatic, 133 asymptomatic) patients with vascular risk factors who were using aspirin for primary or secondary prevention were prospectively included.

β-3AR W64R Polymorphism and 30-Minute Post-Challenge Plasma Glucose Levels in Obese Children.

Objective: In this study, we aimed to investigate the association of W64R polymorphism of the β3-adrenergic receptor gene (β-3AR) with childhood obesity and related pathologies.

Methods: β-3AR gene W64R genotyping was carried out in 251 children aged 6-18 years. Of these subjects, 130 were obese (62 boys) and 121 were normal-weight (53 boys).

[Associations between TGF-β1 G/A and TNF-α 308 G/A gene polymorphisms with airway resistance in chronic obstructive pulmonary disease].

Introduction: Chronic obstructive pulmonary disease (COPD) is an important morbidity and mortality cause all over the world. Although specific gene region has not been defined in the pathogenesis of COPD, cytokine gene polymorphisms like tumor necrosis factor-alfa (TNF-α) and transforming growth factor-beta1 (TGF-β1) may contribute to the development of COPD. The aim of the present study was to evaluate the associations between airway resistance with TGF-β1 G/A and TNF-α 308 G/A gene polymorphisms in COPD patients.

Angiotensin I-converting enzyme gene (I/D) polymorphism in patients with migraine.

In addition to the wide expression in many tissues including vascular endothelial cells, production of angiotensin II and degradation of bradykinin may indicate that angiotensin-converting enzyme could be involved in vascular tension and blood pressure. It has been reported that the deletion allele of the angiotensin-converting enzyme gene is associated with increased serum angiotensin-converting enzyme levels and linked to cerebrovascular diseases. In this study, the possible association of migraine with aura with the angiotensin-converting enzyme deletion-deletion (DD) and the angiotensin-converting enzyme insertion-deletion (ID) genotype was investigated in Turkish patients.

Atypical phenotypes of DYT1 dystonia in three children.

Unlabelled: DYT-1 dystonia is the most common primary dystonia seen in childhood. It is an autosomal dominantly inherited disorder caused by deletion of a GAG triplet in exon 5 of the DYT1 gene. It characteristically starts in a distal limb during late childhood, subsequently spreads to involve other body regions sparing oromandibular muscles.

Transforming growth factor-beta1 (509 C/T, 915 G/C, 869 T/C) polymorphisms are not related to obesity in Turkish children.

Increasing expression of transforming growth factor-beta 1 (TGF-beta1) from fatty tissue affects the serum level and hence may stimulate expression of the other cytokines. The studies concerning the relation between TGF-beta1 polymorphisms and obesity have been performed in adults, and diverse results have been reported. In this study, we aimed to investigate the association of TGF-beta1 509 C/T, 915 G/C, 869 T/C polymorphisms in childhood obesity and related pathologies.

Clinical importance of vitamin D receptor gene polymorphism in invasive ductal carcinoma.

In this study, we aimed to investigate the clinical importance of the vitamin D receptor gene polymorphism in invasive ductal breast cancer. All patients included in the study had clinical T1-2, N0-M0 invasive ductal carcinoma. Patients' demographics, axillary metastasis status, metastatic lymph nodi/total dissected lymph nodes from axilla, histopathologic characteristics of tumors, local recurrences, and survival ratio were assessed.

Cardiac transplant in a child with recurrent thrombosis due to congenital thrombophilic mutations.

A modified Blalock-Taussig shunt had been implanted 3 times to treat cyanosis to a patient who has uncorrectable congenital cardiac deformity. We repaired the entire pulmonary artery, from one hilus to the other, to prevent future stenosis while making cardiac transplant. Our patient was also heterozygous for 2 thrombophilic mutations: methylene tetrahydrofolate reductase C677T and Factor V A4070G.

Plasminogen activator inhibitor-1 gene 4G/5G polymorphism in Turkish children with asthma and allergic rhinitis.

Plasminogen activator inhibitor (PAI-1) has an essential role in tissue remodeling after inflammation. Recent literature revealed only one study evaluating PAI-1 4G/5G gene polymorphism in children with asthma and none in children with allergic rhinitis. We aimed to investigate distribution of PAI-1 4G/5G polymorphism in a group of Turkish children with asthma and allergic rhinitis and compare these findings with those obtained in normal peers.

Thrombosis in children with cardiac pathology: analysis of acquired and inherited risk factors.

The present study was conducted to analyze the features and risk factors of childhood thrombotic events in patients with cardiac defect followed-up at our hospital. The clinical and laboratory findings of 59 patients diagnosed with cardiac defects and thromboses between 1997 and 2006 were retrospectively analyzed. Thirty-one children (52.

PAI-1 gene 4G/5G polymorphism, cytokine levels and their relations with metabolic parameters in obese children.

Obesity is associated with the changes of plasminogen activator inhibitor-1 (PAI-1), tumor necrosis factor-alpha (TNFalpha) and transforming growth factor beta (TGFbeta) levels. However, the precise effect of the 4G allele on obesity is still contradictory. Here, we aimed to elucidate the role of the 4G/5G polymorphism of the PAI-1 gene on the PAI-1 level and determine the associations between cytokines, glucose and lipid metabolism parameters in obese children.

Deep vein thrombosis in a child with Down syndrome: A case report.

We report on the case of iliofemoral popliteal vein thrombosis in a child with Down syndrome who had surgery for a congenital heart defect. She was readmitted to our hospital because of gastroenteritis and generalized tonic-clonic seizures at age 14 months. On the second day of hospitalization, color Doppler ultrasonography revealed right iliofemoral and popliteal vein thrombosis.

Proinflammatory cytokine single nucleotide polymorphisms in nasal polyposis.

Objective: To investigate the association between nasal polyposis (NP) and single nucleotide polymorphisms of the proinflammatory cytokines IL (interleukin) 1alpha (the IL1A gene), IL-1beta (the IL1B gene), and tumor necrosis factor alpha (the TNFA gene).

Design: Prospective case-control trial.

Setting: Tertiary referral center.

Endothelial nitric oxide synthase gene intron 4 (VNTR) polymorphism and vascular access graft thrombosis.

Vascular access thrombosis is a leading cause of vascular access failure in hemodialysis patients. Thrombosis is a multifactorial condition and genetic makeup can affect thrombosis risk. We conducted a study to investigate for possible associations between ecNOS gene intron 4 variable-number tandem repeat (VNTR) polymorphism and thrombosis of polytetrafluoroethylene hemodialysis arteriovenous access grafts (AVG) in Turkish patients.

Methylenetetrahydrofolate reductase C677T mutation and nonalcoholic fatty liver disease.

A mutation in the methylenetetrahydrofolate reductase (MTHFR) gene is known as one of the causes of hyperhomocyteinemia. The oxidation products of homocysteine can initiate lipid peroxidation, which has a central role in the pathogenesis of nonalcoholic fatty liver disease (NAFLD). We aimed to assess the possible role of the MTHFR C677T mutation in the progression of simple steatosis to an advanced form of NAFLD.

Heterozygous methylenetetrahydrofolate reductase 677C-T gene mutation with mild hyperhomocysteinemia associated with intrauterine iliofemoral artery thrombosis.

Neonatal thrombosis is a serious event that can cause mortality or severe morbidity. Newborn-related factors, including genetic prothrombotic risk factors, may affect the occurrence of neonatal thrombosis. In this report, a case of intrauterine iliofemoral arterial thrombosis associated with mild hyperhomocysteinemia caused by methylenetetrahydrofolate reductase 677C-T gene mutation is presented.

The effect of plasminogen activator inhibitor-1 gene 4G/5G polymorphism on glucose and lipid metabolisms in Turkish obese children.

Objective: Obesity is a metabolic disorder that is associated with increased plasminogen activator inhibitor-1 (PAI-1) concentration in the circulation. This increase is related to insulin resistance, dyslipidaemia and cardiovascular disease. Some studies have demonstrated a relationship between plasma PAI-1 concentrations and the 4G/5G gene polymorphism in the PAI-1 gene, while other studies have not.

Analysis of prothrombotic mutations and polymorphisms in children who developed thrombosis in the perioperative period of congenital cardiac surgery.

In this study, we investigated some of the prothrombothic mutations and polymorphisms in 15 children with congenital cardiac malformations who developed severe thrombosis in the perioperative period following surgical repair. The mutations and polymorphisms included in the study were Factor V Leiden, prothrombin G20210A, methylentetrahydrofolate reductase C677T, endothelial nitric oxide synthase intron 4 VNTR, alpha-fibrinogen Thr312Ala, Factor XIII Val34Leu, and insertion or deletion of angiotensin 1 converting enzyme. Compared to the healthy Turkish subjects, our patients had a similar rate of mutation of Factor V Leiden, Factor XIII Val34Leu, and endothelial nitric oxide synthase a/b polymorphisms, but higher frequency of the prothrombotic angiotensin 1 converting enzyme deletion/deletion genotype, and lower frequency of the antithrombotic alpha fibrinogen Thr/Thr genotype.