Search

Aims: Non-Caucasian migrants require dedicated approaches in diabetes management due to specific genetic; socio-cultural; demographic and anthropological determinants. Documenting such phenotypes allows for better understanding unmet needs and management priorities., Methods: This age- and sex-adjusted case-control (1:6 ratio) study compared 56 T2DM Turkish migrants (70% males) resident in Belgium [Tu] with 336 T2DM Caucasians [Ca], all benefiting from state-funded healthcare., Results: The 2 groups did not differ regarding BMI; waist circumference; fat mass; visceral fat; muscle mass; insulin sensitivity; insulinemia; metabolic syndrome; hypertension; lipid-modifying drugs; and macroangiopathy. They also had similar renal function and (micro)albuminuria. Education (low/high) and ethanol consumption were lower among [Tu]: 83/17% and 2.0 U/wk vs 43/57% and 13.6 U/wk in [Ca] (p < 0.0001). β-cell function loss (BCF) was higher in [Tu]: 1.58(0.45) vs 1.35(0.54)%/yr (p 0.0027), as was HbA1c: 8.39(1.91) vs 7.48(1.35)% in [Ca] (p < 0.0001). Diabetes duration and insulin use were increased in [Tu]: 19(9)yr and 70% vs 16(8)yr and 48% in [Ca] (p 0.0111 and 0.0024). Atherogenic dyslipidemia (AD) was more prevalent in [Tu]: 64% vs 49% (p 0.0309), who had higher non-HDL-C; apolipoprotein B 100 ; LDL-C; and triglycerides; and lower HDL-C and apolipoprotein A-I levels (all p < 0.05). Overall microangiopathy; retinopathy; and neuropathy were more prevalent in [Tu]: 55-35-37% vs 40-18-20% in [Ca] (all p < 0.05)., Conclusions: These results should raise concerns about poor glycaemic control; rapid BCF loss; severe AD; and microangiopathy among Turkish migrants with T2DM. Targeting AD could improve the cardiometabolic profile of this minority given the relationship between AD and residual vascular risk., (Copyright © 2018 Diabetes India. Published by Elsevier Ltd. All rights reserved.)

Polymorphisms in the cytochrome P (CYP) 450 family may cause adverse drug responses in individuals. Cytochrome P450 2C19 (CYP2C19) is a member of the CYP family, where the presence of the 681 G>A, 636 G>A and 806 C>T polymorphisms result in the CYP2C19*2, CYP2C19*3 and CYP2C19*17 alleles, respectively. In the current study, the frequency of the CYP2C19*2, CYP2C19*3 and CYP2C19*17 alleles in an Iranian population cohort of different ethnicities were examined and then compared with previously published frequencies within other populations. Allelic and genotypic frequencies of the CYP2C19 alleles (*2, *3 and *17) were detected using polymerase chain reaction (PCR)‑restriction fragment length polymorphism analysis, PCR‑single‑strand conformation polymorphism analysis and DNA sequencing from blood samples of 1,229 unrelated healthy individuals from different ethnicities within the Iranian population. The CYP2C19 allele frequencies among the Iranian population were 21.4, 1.7, and 27.1% for the CYP2C19*2, CYP2C19*3 and CYP2C19*17 alleles, respectively. The frequency of the homozygous A/A variant of the CYP2C19*2 allele was significantly high and low in the Lur (P<0.001) and Caspian (P<0.001) ethnicities, respectively. However, the frequency of the homozygous A/A variant of the CYP2C19*3 allele was not detected in the Iranian cohort in the current study. The frequency of the heterozygous G/A variant of the CYP2C19*3 allele had the significantly highest and lowest frequency in the Fars (P<0.001) and Lur (P<0.001) groups, respectively. The allele frequency of the homozygous T/T variant of the CYP2C19*17 allele was significantly high in the Caspian (P<0.001) and low in the Kurd (P<0.05) groups. The frequency of the CYP2C19 alleles involved in drug metabolism, may improve the clinical understanding of the ethnic differences in drug responses, resulting in the advancement of the personalized medicine among the different ethnicities within the Iranian population.

Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders of neuromuscular transmission. Most are treatable, but certain subtypes worsen with cholinesterase inhibitors. This underlines the importance of genetic diagnosis. Here, the authors report on cases with genetically proven congenital myasthenic syndromes from Turkey. The authors retrospectively reviewed their experience of all patients with congenital myasthenic syndromes, referred over a 5-year period (2011-2016) to the Child Neurology Department of Dokuz Eylül University, Izmir, Turkey. In addition, PubMed was searched for published cases of genetically proven congenital myasthenic syndromes originating from Turkey. In total, the authors identified 43 (8 new patients, 35 recently published patients) cases. Defects in the acetylcholine receptor (n = 15; 35%) were the most common type, followed by synaptic basal-lamina associated (n = 14; 33%) and presynaptic syndromes (n = 10; 23%). The authors had only 3 cases (7%) who had defects in endplate development. One patient had mutation GFPT1 gene (n = 1; 2%). Knowledge on congenital myasthenic syndromes and related genes in Turkey will lead to prompt diagnosis and treatment of these rare neuromuscular disorders.