Epidemiology of Geriatric Trauma in an Urban Kazakhstani Setting.

BACKGROUND: External causes of death are still among the main causes of death in the countries of the former Soviet Union. We studied epidemiology of injuries among elderly in a typical Kazakhstani city. METHODS: Data on all injuries among individuals aged 60 yr or older in the city of Semey (former Semipalatinsk) from 2010 to 2012 was collected from medical files. We present absolute numbers and incidence rates for the main ICD-codes in Chapters XIX and XX of ICD-10 by gender, ethnic background and place where the injury occurred. RESULTS: Altogether, there were 6065 injuries in 2010-2012. The overall incidence of increased from 4746.6 per 100000 in 2010 to 5577.7 per 100000 in 2012. Injuries to the elbow and forearm, injuries to the shoulder and upper arm, and injuries to the knee and lower leg were the most common and comprised 17.3%, 15.5% and 14.6% of all injuries, respectively. Falls constituted 82.2% of all injuries. Most injuries occurred at home and among ethnic Russians. CONCLUSION: The incidence and the absolute number of injuries among elderly in Semey increased during the study period in both men and women. Given that the population of Kazakhstan is getting older, injuries are expected to require more attention from the public health professionals and health authorities. More than four-fifths of traumas resulted from falls making this cause of injury the first target for preventive measures.

Mitochondrial and Y-chromosomal profile of the Kazakh population from East Kazakhstan.

AIM: To study the genetic relationship of Kazakhs from East Kazakhstan to other Eurasian populations by examining paternal and maternal DNA lineages. METHODS: Whole blood samples were collected in 2010 from 160 unrelated healthy Kazakhs residing in East Kazakhstan. Genomic DNA was extracted with Wizard genomic DNA Purification Kit. Nucleotide sequence of hypervariable segment I of mitochondrial DNA (mtDNA) was determined and analyzed. Seventeen Y-short tandem repeat (STR) loci were studied in 67 samples with the AmpFiSTR Y-filer PCR Amplification Kit. In addition, mtDNA data for 2701 individuals and Y-STR data for 677 individuals were retrieved from the literature for comparison. RESULTS: There was a high degree of genetic differentiation on the level of mitochondrial DNA. The majority of maternal lineages belonged to haplogroups common in Central Asia. In contrast, Y-STR data showed very low genetic diversity, with the relative frequency of the predominant haplotype of 0.612. CONCLUSION: The results revealed different migration patterns in the population sample, showing there had been more migration among women. mtDNA genetic diversity in this population was equivalent to that in other Central Asian populations. Genetic evidence suggests the existence of a single paternal founder lineage in the population of East Kazakhstan, which is consistent with verbal genealogical data of the local tribes.

BRCA1 and BRCA2 Gene Mutations Screening In Sporadic Breast Cancer Patients In Kazakhstan.

BACKGROUND: A large number of distinct mutations in the BRCA1 and BRCA2 genes have been reported worldwide, but little is known regarding the role of these inherited susceptibility genes in breast cancer risk among Kazakhstan women. AIM: To evaluate the role of BRCA1/2 mutations in Kazakhstan women presenting with sporadic breast cancer. METHODS: We investigated the distribution and nature of polymorphisms in BRCA1 and BRCA2 entire coding regions in 156 Kazakhstan sporadic breast cancer cases and 112 age-matched controls using automatic direct sequencing. RESULTS: We identified 22 distinct variants, including 16 missense mutations and 6 polymorphisms in BRCA1/2 genes. In BRCA1, 9 missense mutations and 3 synonymous polymorphisms were observed. In BRCA2, 7 missense mutations and 3 polymorphisms were detected. There was a higher prevalence of observed mutations in Caucasian breast cancer cases compared to Asian cases (p<0.05); higher frequencies of sequence variants were observed in Asian controls. No recurrent or founder mutations were observed in BRCA1/2 genes. There were no statistically significant differences in age at diagnosis, tumor histology, size of tumor, and lymph node involvement between women with breast cancer with or without the BRCA sequence alterations. CONCLUSIONS: Considering the majority of breast cancer cases are sporadic, the present study will be helpful in the evaluation of the need for the genetic screening of BRCA1/2 mutations and reliable genetic counseling for Kazakhstan sporadic breast cancer patients. Evaluation of common polymorphisms and mutations and breast cancer risk in families with genetic predisposition to breast cancer is ongoing in another current investigation.