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

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

Iodine deficiency in Turkey

Turkey is an iodine deficiency area. The overall goitre prevalence is thought to be 30%, and most epidemiological studies give figures compatible with mild to moderate iodine deficiency. However, it is suspected that there are regions where iodine deficiency might be more severe than previously known. In this study the goitre prevalence and iodine status in a mountain village in Central Anatolia were investigated and the results compared to those of an urban area with mild iodine deficiency. Parameters of iodine status in the mountainous region showed severe iodine deficiency comparable to that in Central Africa. It seems that there are regions in Turkey where current programmes of salt iodization will be inadequate to correct the problem of iodine deficiency

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

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

Anaerobic fecal flora in healthy breast-fed Turkish babies born by different methods

The aim of this study is to determine the anaerobic fecal flora of 40 newborn, full-term healthy Turkish babies during I month and to find the difference of the flora depending on the manner of birth. Fecal samples of 15 newborn girls and 25 newborn boys whose mothers had no risk factors like infections and early membrane ruptures were studied. The newborn babies had a weight between 2550 and 4080 g and a gestational age between 38 and 41 weeks. All babies were breast fed and 20 of them were delivered vaginally, 20 by cesarean. Stool samples were taken during 0-2 days, 3-7 days and the 4th week of birth. The isolation of anaerobic bacteria was made from 0.1 dilution of 1 g stool and their identification was confirmed by API 20 A panels. The number of each microorganism isolated from the stool of newborns taken during 0-2 days, 3-7 days and the 4th week of birth was separately evaluated for the group of babies delivered vaginally and for the group of babies delivered by cesarean. The isolation rate of anaerobic bacteria which grew in a high concentration (3+ or 4+) and which showed a significant difference with a P value <0.05 between the two fecal flora of babies delivered either vaginally or by cesarean was considered statistically significant. Peptostreptococcus prevotii, Peptostreptococcus. magnus, Clostridium difficile and Bacteroides capillosus were found only in the fecal flora of newborns, taken during 0-2 days of birth, from babies delivered either vaginally or by cesarean. We have also observed that Peptostreptococcus anaerobius and Bacteroides fragilis were never present in the fecal flora of newborns taken during 0-2 days of birth, Lactobacillus casei and Eubacterium lentum were never present in the fecal flora of newborns taken during 0-2 days and the 3-7 days of birth, and also Bifidobacterium adolescentis were never present in the fecal flora of newborns, taken during the 4th week of birth. We also found, Lactobacillus minutus and Lactobacillus acidophilus only in the fecal flora of newborns taken during 0-2 days and the 4th week of birth from babies delivered vaginally, and also Prevotella bivia in the fecal flora taken during 0-2 days, the 3-7 days and the 4th week of birth from babies delivered either vaginally or by cesarean. The anaerobic fecal flora of Turkish babies is first reported in this study. Since the normal intestinal flora has an important contribution in prevention of systemic infections and also in the maturation of human physiology and immune system, we believe that it is necessary to determine the intestinal flora of babies from different regions which shows differentiation depending on intrinsic and environmental factors. (C) 2002 Elsevier Science Ltd. All rights reserved