FTO gene-lifestyle interactions on serum adiponectin concentrations and central obesity in a Turkish population

The aim of the study was to investigate whether lifestyle factors modify the association fat mass and obesity-associated (FTO) gene single nucleotide polymorphisms (SNPs) and obesity in a Turkish population. The study included 400 unrelated individuals, aged 24-50 years recruited in a hospital setting. Dietary intake and physical activity were assessed using 24-hour dietary recall and self-report questionnaire, respectively. A genetic risk score (GRS) was developed using FTO SNPs, rs9939609 and rs10163409. Body mass index and fat mass index were significantly associated with FTO SNP rs9939609 (P=0.001 and P=0.002, respectively) and GRS (P=0.002 and P=0.003, respectively). The interactions between SNP rs9939609 and physical activity on adiponectin concentrations, and SNP rs10163409 and dietary protein intake on increased waist circumference were statistically significant (Pinteraction=0.027 and Pinteraction=0.044, respectively). This study demonstrated that the association between FTO SNPs and central obesity might be modified by lifestyle factors in this Turkish population

Relationship Between TSH Level and Cardiometabolic Risk Factors in Overweight and Obese Adolescents

Purpose: To investigate the relationship between TSH levels and cardiometabolic risk factors in overweight/obese adolescents by gender. Methods: We performed a retrospective cross-sectional analysis of the data from 343 overweight/obese adolescents aged between 11 and 18 years. The degree of obesity was calculated as the body mass index standard deviation score (BMI-SDS). Hypertension, dyslipidaemia, hyperinsulinaemia, hyperglycaemia and insulin resistance were defined as cardiometabolic risk factors. The patients' TSH and free T4 levels were recorded, and the subjects with normal free T4 levels were included. Findings: A positive correlation was found between TSH level and homeostatic model assessment of insulin resistance (HOMA-IR), insulin and triglyceride levels (p=0.001, 0.001, 0.006, respectively). In the linear regression analysis, in which age, gender and BMI-SDS values were taken as covariates, a 10% increase in the geometric mean of TSH was associated with a 0.13 fold increase in HOMA-IR, and a 10% increase in TSH level was associated with a onefold increase in geometric mean of insulin level (p=0.003, 0.002, respectively), but the relationship between TSH and triglyceride levels disappeared. Conclusions: TSH levels were found to be related to the glucose metabolism. Further prospective studies are needed to clarify the mechanism of this relationship

Prospective Turkish Cohort Study to Investigate the Frequency of Niemann-Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member

PubMedID: 28808920Background: Niemann-Pick disease Type C (NP-C) is a rare, autosomal recessive lysosomal storage disorder caused by mutations in NPC1 or NPC2 genes. Diagnosis of NP-C can be challenging and is frequently delayed. Identifying mutations in individuals with NP-C and their relatives enables genetic counseling and prenatal diagnosis and may support earlier diagnosis. Here we report findings from a prospective cohort study in Turkey, using targeted genetic screening of the families of NP-C probands with homozygous NPC1 or NPC2 mutations. Methods: Probands were selected from a Turkish National Registration Database. Probands had confirmed diagnosis based on NPC1 or NPC2 mutations, with clear indication for consanguineous, homozygous inheritance. Family members were identified from interviews and pedigree analysis. Genetic analysis was performed on DNA from peripheral blood samples from all subjects. Results: Four probands and 510 individuals from the four families were included. In these four families, the overall NPC1 or NPC2 heterozygous mutation frequency was 22.7%. A novel mutation was identified in NPC1 (p.T375P; c.1123A>C). A previously described NPC2 mutation (p.E118X; c.352G>T) was also observed in two families from different regions of Turkey. We identified two new patients with NP-C from two families. Conclusions: This is the largest screening study conducted to date in Turkey in the families of patients with NP-C with homozygous inheritance. We have reported heterozygote frequencies, identified a novel mutation, and detected new patients with NP-C. These findings will aid our understanding of NP-C and may lead to improved recognition and more timely diagnosis. © 2017, Springer International Publishing AG.Actelion Pharmaceuticals Actelion Pharmaceuticals Actelion PharmaceuticalsAcknowledgements We are grateful for the collaboration of our patients and their families. Medical writing assistance was provided by Rachel Kendrick and Jennifer Mayes of Fishawack Communications GmbH, and was funded by Actelion Pharmaceuticals Ltd.Conflict of interest This study was supported by Actelion Pharmaceuticals Ltd, Allschwil, Switzerland. MT has received honoraria from Actelion Pharmaceuticals Ltd. All other authors declare that they have no competing interests

Iron status in breast-fed full-term infants

The aim of this study was to evaluate the iron status of full-term babies breastfed exclusively for four months and the importance of iron supplementation

Influence of Bacillus Calmette-Guerin vaccination at birth and 2 months old age on the peripheral blood T-cell subpopulations [gamma/delta (gamma delta) and alpha-beta (alpha beta) T cell]

The neonatal immune system is immature and may be affected by Bacillus Calmette-Guerin (BCG) vaccine. We investigated the influence of BCG given at two different ages on the peripheral blood (PB) T-cell subpopulations. Forty full term healthy newborns were randomly chosen. Twenty of them were vaccinated with BCG at birth (group 1) and the remaining at the age of 2 months (group II). The cell analysis were carried out before (pre-BCGI and pre-BCGII), and 2 months after (post-BCGI and post-BCGII) the vaccination. The analysis of the gamma/delta and alpha/beta T-cell receptor (TCR) antigens was done by two-colour flowcytometer. The purified protein derivative (PPD) response was investigated 2 months after vaccination. The results showed that although T-cell (TCR+ cell) counts showed no difference in PB before and after vaccination in both study groups, the total lymphocyte and non-T cell (TCR- cell) populations increased significantly whereas alpha beta T-cell population significantly decreased after vaccination. On the contrary, gamma delta T-cell counts in PB increased significantly 2 months after vaccination in group I but not in group II. Total lymphocyte and non-T cell counts in vaccinated infants at 2 months of age (post-BCGI) were significantly higher than in unvaccinated infants of the same age whereas alpha beta T-cell count in vaccinated infants was significantly low. However, total T-cell and gamma delta T-cell counts showed no difference. PPD positivity was similar in both study groups (61% in group I, 66% in group II). Neither alpha beta T- nor gamma delta T-cell counts were different in PPD positive and PPD negative infants. Our study shows that BCG causes marked quantitative changes in the PB T-cell subpopulations in young infants

Violent behaviour among Turkish high school students and correlates of physical fighting

Background: The purpose of this study was to provide data about the prevalence of violent behaviour among high school students living in Istanbul and to determine the correlates of physical fighting. Method: This study involved the completion of a modified version of 'Health Behaviour in School Age Children (HBSC) 1997/1998' survey questionnaire by 4153 grade 9-11 students. Chi square tests and forward stepwise multiple logistic regression models were used for statistical analyses. Results: During the last 12 months preceding the survey 42% of students (n=1720) reported that they had been in a physical fight; 7% (n=274) reported that they were involved in a fight which required medical treatment. During the last school term 19% (n=768) bullied others at school; 30% (n=1255) reported having been bullied at school; 7% (n=309) reported that they had been bullied with a weapon on school grounds; 8% (n=346) reported that they carried a weapon on school grounds. In logistic regression analyses being male, poor mental health score, being sexually active, current cigarette use, illicit drug use, not using seat belts, bullying, being bullied with a weapon, carrying a weapon, spending more time with friends, poor school image and physical abuse were found to be associated with fighting. Conclusion: Violent behaviour is common in high school students. There is a strong need for violence prevention programmes in schools