ABSTRACT
Li-Fraumeni syndrome (LFS) is a very rare autosomal dominant and highly penetrant cancer syndrome characterized by early-onset primary tumours, including soft tissue and bone sarcoma, breast cancer, leukemia, brain tumours and adrenocortical carcinoma. Here we report the first evidence-based case of LFS in Bosnia and Herzegovina and the whole Balkan region. A ten year-old girl developed multiple primary tumours (rhabdomyosarcoma) during a period of eight years, as well as fibroadenoma of the breast. Sequential analysis revealed a germ line mutation of TP53 in exon 8, a common mutation in patients with LFS, in both the patient and her mother.
Subject(s)
Li-Fraumeni Syndrome/epidemiology , Bosnia and Herzegovina/epidemiology , Breast Neoplasms/genetics , Breast Neoplasms/pathology , Breast Neoplasms/surgery , Child , DNA, Neoplasm/genetics , Exons/genetics , Facial Neoplasms/diagnosis , Facial Neoplasms/genetics , Facial Neoplasms/pathology , Facial Neoplasms/surgery , Female , Fibroadenoma/genetics , Fibroadenoma/pathology , Fibroadenoma/surgery , Genes, p53 , Germ-Line Mutation , Haplotypes/genetics , Humans , Introns/genetics , Li-Fraumeni Syndrome/diagnosis , Li-Fraumeni Syndrome/pathology , Lip Neoplasms/genetics , Lip Neoplasms/pathology , Lip Neoplasms/surgery , Neoplasm Recurrence, Local , Orbit Evisceration , Pedigree , Rhabdomyosarcoma/diagnosis , Rhabdomyosarcoma/genetics , Rhabdomyosarcoma/pathology , Rhabdomyosarcoma/surgeryABSTRACT
Fifteen autosomal STR loci (D3S1358, TH01, D21S11, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSF1PO, Penta D, VWA, D8S1179, TPOX, and FGA) were studied in three geographically close but isolated populations from the Bosnian mountain area. The three villages are Bobovica, Dejcici, and Lukomir. DNA was obtained from 83 individuals, and the allele frequencies and genetic diversity among the three sample groups were compared. In addition, seven of the STR loci (CSF1PO, D13S317, D3S1358, D5S818, D7S820, FGA, TH01) were used in a comparative population analysis of the Bjelasnica-Treskavica region and the Adriatic islands of Brac, Hvar, and Korcula. Although the sample sizes are relatively small, the observed variation within any of the small isolated populations is high and comparable to less isolated groups. In addition, even though the populations are geographically isolated, the STR data are similar among the populations. The most significant frequency differences were observed at the TH01 locus. Although the specific allele distributions in any untyped population cannot be determined a priori, we find support for a high degree of diversity for the STR loci in most populations. In addition, the multiple locus profile is highly informative not only for various population studies but also for forensic studies, even when specific population data are not available.
Subject(s)
Genetic Variation/genetics , Genetics, Population , Rural Population/statistics & numerical data , Tandem Repeat Sequences/genetics , Bosnia and Herzegovina/epidemiology , DNA Fingerprinting , Family Characteristics , Forensic Anthropology , Gene Frequency/genetics , Geography , Humans , Mouth Mucosa , Polymerase Chain Reaction , Quantitative Trait Loci/genetics , Social IsolationABSTRACT
BACKGROUND: Most available studies on seroprevalence of Hepatitis B in the Armed Forces and also at the national level are based on hospital patients and blood donors. Hence, there was a perceived need to undertake a seroepidemiological study on an adequately large and representative random sample of the general cross section of Army personnel, with a view to obtain the exact picture of the frequency and distribution of HBV in the Army. METHODS: A community based cross sectional study with random samples from four groups were drawn, viz recruits from the Army Medical Corps (AMC) and other Arms and Services; AMC personnel and personnel from other Arms and Services who had served for more than 10 years. A structured pretested questionnaire was administered to all participants and blood samples were drawn aseptically subsequently, with separation of serum and testing by ELISA technique for HBsAg. Multivariate analysis using multiple logistic regression procedure was done after appropriate data entry. RESULTS: The overall seroprevalence was 7.9% (95%CI = 6.5% to 9.26%). The differential seroprevalence in the four groups being 7.72%, 7.92%, 8.28% and 7.75% respectively. There was statistically no significant difference as regards the seroprevalence levels [p > 0.05]. As regards serving medical personnel, the seroprevalence was observed to be higher among personnel involved in direct nursing care. On multiple logistic regression analysis, two risk factors emerged as independent and significant predictors of hepatitis B positivity. These were history of sexual exposure with commercial sex workers (CSWs) (OR = 3.06, p < 0.01) and history of having taken injections from civil sources (OR = 1.92, p < 0.001). CONCLUSION: The relatively high level of seroprevalence among recruits has led to certain recommendations on testing and further studies in specific groups, based on the findings of the study.
