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PubMed2004

Novel 180- and 480-base-pair insertions in African and African-American strains of Helicobacter pylori.

Helicobacter pylori is a genetically diverse bacterial species that chronically infects human stomachs and sometimes causes severe gastroduodenal disease. Studies of polymorphic DNA sequences can suggest geographic origins of individual strains. Here, we describe a 180-bp insertion (ins180), which is just after the translation stop of a gene of unknown function, near the promoter of jhp0152-jhp0151 two-component signal transduction genes in strain J99, and absent from this site in strain 26695. This ins180 insertion was found in 9 of 9 Gambian (West African), 9 of 20 (45%) South African, and 9 of 40 (23%) Spanish strains but in only 2 of 20 (10%) North American strains and none of 20 Lithuanian, 20 Indian, and 20 Japanese strains. Four South African isolates that lacked ins180 and that belonged to an unusual outlier group contained a 480-bp insertion at this site (ins480), whereas none of 181 other strains screened contained ins480. In further tests 56% (10 of 18) of strains from African Americans but only 17% (3 of 18) of strains from Caucasian Americans carried ins180 (P < 0.05). Thus, the H. pylori strains of modern African Americans seem to retain traces of African roots, despite the multiple generations since their ancestors were taken from West Africa. Fragmentary ins180-like sequences were found at numerous sites in H. pylori genomes, always between genes. Such sequences might affect regulation of transcription and could facilitate genome rearrangement by homologous recombination. Apparent differences between African-American and Caucasian-American H. pylori gene pools may bear on our understanding of H. pylori transmission and disease outcome.

Black or African American↗
PubMed2005

Onset of breast and pubic hair development in 1231 preadolescent Lithuanian schoolgirls.

BACKGROUND: Correct staging of puberty is essential in order to differentiate different pathologies, as various components of the endocrine system influence breast, pubic, and axillary hair development. AIMS: To determine the current timing of adrenarche and breast development in Lithuanian preadolescent schoolgirls. METHODS: Cross-sectional study of 1231 schoolgirls aged 7.0-11.6 years. Puberty was staged according to the method of Tanner. Mean age at entry into each pubertal stage was calculated by probit analysis. RESULTS: Of the 255 girls aged 7 years, two had premature adrenarche (0.8%) and one premature thelarche (0.4%). Mean age of onset of pubic/axillary hair development was 11.0 years, and for breast development (Stage 2) 10.2 years. Breast Stage 3 development was attained at 11.3 years and Stage 4 at 13.9 years. Mean BMI, height, weight, and systolic blood pressure SD scores were higher in pubertal than in prepubertal girls. Skinfold thickness was also significantly higher in girls with isolated adrenarche than in prepubertal girls. The increase in BMI and weight resulted from an increase in body fat as evidenced by measures of subscapular and triceps skinfold thickness. Girls with only signs of adrenarche or thelarche did not differ from each other from the anthropometric standpoint. CONCLUSIONS: Premature thelarche and premature adrenarche were relatively uncommon in this population. Pubertal onset was slightly earlier than the UK Tanner standards and tended to occur in girls with a higher BMI.

Age Factors↗
PubMed2004

Mortality and cancer incidence among Lithuanian cement producing workers.

AIMS: To investigate mortality and cancer incidence of cement producing workers. METHODS: A total of 2498 cement workers who have been employed at Portland cement producing departments for at least one year from 1956 to 2000 were followed up from 1 January 1978 to 31 December 2000. The cohort contributed 43,490 person-years to the study. Standardised incidence ratios (SIR) and standardised mortality ratios (SMR) were calculated as ratios between observed and expected numbers of cancers and deaths. The expected numbers were based on sex specific incidence and mortality rates for the total Lithuanian population. RESULTS: Significantly increased SMRs were found for all malignant neoplasms (SMR 1.3, 95% CI 1.0 to 1.5) and for lung cancer (SMR 1.4, 95% CI 1.0 to 1.9) among male cement workers. SIR for all cancer sites was 1.2 (95% CI 1.0 to 1.4). Excess risk was found for cancer of the lung (SIR 1.5, 95% CI 1.1 to 2.1). The SIR for urinary bladder cancer was also increased (SIR 1.8, 95% CI 0.9 to 3.5). The overall cancer incidence was not increased among females (SIR 0.8, 95% CI 0.6 to 1.1). With increasing cumulated exposure to cement dust, there were indications of an increasing risk of lung and stomach cancers among males. CONCLUSIONS: This study supported the hypothesis that exposure to cement dust may increase the lung and bladder cancer risk. A dose related risk was found for stomach cancer, but no support was found for an increased risk of colorectal cancer.

Asbestos, Serpentine↗
PubMedDate not supplied

Reliability of a new caries diagnostic system differentiating between active and inactive caries lesions.

Current scoring systems for dental caries do not consider the dynamic nature of the disease. The aims of the present study were to describe a new set of clinical caries diagnostic criteria which differentiate between active and inactive caries lesions at both the cavitated and non-cavitated levels and to evaluate the reliability of this criteria system in a population with high caries experience. Ten diagnostic codes were defined: 0 = sound; 1 = active (intact); 2 = active (surface discontinuity); 3 = active (cavity); 4 = inactive (intact); 5 = inactive (surface discontinuity); 6 = inactive (cavity); 7 = filling; 8 = filling with active caries; 9 = filling with inactive caries. Distinction between active and inactive caries lesions was made on the basis of a combination of visual and tactile criteria. The inter- and intra-examiner reliability was assessed through repeated examinations of 50 children by 2 recorders over a period of 3 years. The percentage agreement of caries diagnoses varied between 94.2 and 96.2%. The kappa values ranged between 0.74 and 0.85 for intra-examiner examinations and between 0.78 and 0.80 for inter-examiner examinations; 81.6% of all misclassifications involved non-cavitated caries lesions. Disagreement between sound surfaces and non-cavitated active or non-cavitated inactive lesions (31.3 and 31.2%, respectively) was more common than disagreement between non-cavitated active and non-cavitated inactive lesions (10. 6%). The probability of reconfirming a sound, non-cavitated active or non-cavitated inactive caries lesion - given that the surface was diagnosed as either sound, non-cavitated active or non-cavitated inactive at the first examination - was 98.0, 68.7 and 72.5%, respectively. The results show that the use of a new set of clinical caries diagnostic criteria based on activity assessment can be performed with a high reliability, even when non-cavitated diagnoses are included in the criteria system.

Adolescent↗
PubMedDate not supplied

A comparison of clinical and radiographic caries diagnoses in posterior teeth of 12-year-old Lithuanian children.

Bite-wing radiography has been recommended for use in adolescents as clinical examinations alone may lead to underestimation of carious lesions in approximal and occlusal surfaces. The aim of this study was to describe the relationship between clinical and radiographic caries diagnoses among 12-year-old Lithuanians using a new clinical scoring system which differentiates between cavitated and non-cavitated caries lesions. Eight hundred and seventy-two children were examined clinically and two standardized posterior bite-wing radiographs were taken of each participant. Bite-wing radiography contributed significantly to the total number of lesions diagnosed only at the dentin level in approximal surfaces. Clinical examination performed better than radiographic examination at the non-cavitated/enamel level, particularly on occlusal surfaces. Less than 2% of the clinically sound surfaces were diagnosed with dentin lesions/fillings radiographically. When using the cavitated level of clinical diagnosis, the frequency of 'hidden' caries lesions increased from 1.9 to 2.9% in approximal surfaces, and from 1.7 to 5. 2% in occlusal surfaces. The intra-examiner reliability data for the clinical and radiographic recordings supported the conclusion of an additional diagnostic value of bite-wings only for approximal surfaces. The findings demonstrate that the diagnostic yield of bite-wing radiography is higher for approximal than for occlusal surfaces. The efficacy of bite-wings depends on the refinement of the clinical caries diagnostic criteria. 'Hidden' caries does not seem to be a major problem when the clinical caries diagnostic criteria include non-cavitated diagnoses.

Bicuspid↗
PubMed1999

Molecular genetic study of autosomal dominant retinitis pigmentosa in Lithuanian patients.

Lithuanian patients with visual problems were clinically examined for retinitis pigmentosa (RP). A total of 33 unrelated families with autosomal dominant RP (adRP) were identified. Screening for mutations in the rhodopsin (RHO) and peripherin/RDS (RDS) genes was performed using DNA heteroduplex analysis. Direct DNA sequencing in the cases of heteroduplex formation showed the presence of the following mutations and polymorphisms in 14 adRP patients: RHO gene - Lys248Arg (1 case), and Pro347Leu (2 cases); RDS gene - Glu304Gln (12 cases), Lys310Arg (5 cases), and Gly338Asp (12 cases). The presence of these mutations (except Lys248Arg in the RHO gene) was confirmed by relevant restriction enzyme digestion. The frequency of the RDS gene mutations Glu304Gln and Gly338Asp was estimated to be 36.4%, while mutation Lys310Arg was less frequent (15.2%). These 3 RDS gene mutations appear to be polypeptide polymorphisms not related to adRP.

Exons↗
PubMed2002

Y-chromosomal diversity suggests that Baltic males share common Finno-Ugric-speaking forefathers.

OBJECTIVE: To elucidate the genetic relationships between Estonian, Latvian and Lithuanian men by studying Y-chromosomal variation in these people. METHODS: The allelic status of five deep-rooted marker loci (YAP, Tat, M9, 92R7 and SRY-1532) was determined for 346 Baltic males. On the basis of single nucleotide polymorphism (SNP) haplotypes, Y chromosomes were divided into six haplogroups, and the Baltic haplogroup distribution compared with that in 7 European reference populations. Haplogroup frequencies, diversities and genetic distances (F(ST) values) were calculated. The relationships between populations were further illustrated using Mantel test, neighbor-joining tree and principal-component map. RESULTS: We found the Indo-European-speaking Latvians and Lithuanians to be genetically very similar to the Finno-Ugric-speaking Estonians. When compared to the reference populations, Baltic males were most closely related to the Finno-Ugric-speaking Mari, followed by their Finnish and Slavonic neighbors. CONCLUSIONS: The genetic similarity existing between Estonian, Latvian and Lithuanian men suggests that they originate from the same male founder population. Since the Baltic Y-chromosomal haplogroup distribution more closely resembles that of Finno-Ugric than Indo-European-speaking populations, we propose a hypothesis that Baltic males share a common Finno-Ugric ancestry.

Alleles↗
PubMedDate not supplied

Causal patterns of dental health in populations. An empirical approach.

In the present investigation we aimed to analyse causally the pattern of determinants leading to the maintenance of functional teeth in adults. Clinical and self-reported information was used. The hypothesis was that socio-economic conditions operate through psychosocial circumstances that influence lifestyle, and are thus related to oral hygiene and levels of remaining teeth. Testing of the patterns for adults residing in high- and low-fluoride areas did not reveal any principal differences in dental health, therefore further testing was combined for both fluoride areas. Further analysis also indicated that testing should be performed separately for each gender. Social structure and dental health-related lifestyle were important in an overall pattern of maintaining functional teeth, but general lifestyle and psychosocial conditions were not found to be part of the pattern influencing dental health. Gender-specific patterns were revealed. New hypotheses may be suggested for further research with regard to studying patterns of dental health in Lithuanian adults.

Adult↗
PubMedDate not supplied

Distributions of phenylalanine hydroxylase mutations and haplotypes in Lithuanian phenylketonuria patients.

The distribution of phenylketonuria (PKU) mutations and haplotypes was studied in a sample of 50 families with at least one PKU child detected through the Lithuanian neonatal screening program from 1975 to 1992. Mutations were identified on 84 of the 100 alleles. Three mutations (R408W, R158Q, R261Q) together accounted for 78% of all chromosomes studied. The mutations IVS12nt1, IVS10nt546, 6272X, Q232Q were very rare. Nine different DNA haplotypes based on restriction fragment length polymorphisms at the phenylalanine hydroxylase locus were observed. The frequency of the mutant R408W is one of the highest in Europe. Most of the PKU patients were compound heterozygotes, and 47% were homozygotes for the mutations identified in this series.

Female↗
PubMedDate not supplied

Low frequency of the delta F508 mutation in Finno-Ugrian and Baltic populations.

The frequency of carriers of the delta F508 mutation at the cystic fibrosis (CF) locus was studied in population samples of Finns, Lithuanians, Saamis (Lapps) and Swedes from northern Sweden. The carrier frequencies in northern Sweden (1:200) and in Lithuanians (1:143) were significantly lower than in southern Scandinavia (Denmark; 1:38). No delta F508 carriers were found in Finns (n = 171) and Saamis (n = 151). The results indicate that the frequency of delta F508 is low in Finno-Ugrian and Baltic populations, and the decreased frequency of delta F508 in northern Sweden may be due to Finnish and Saamish admixture.

Baltic States↗