Os objetivos deste estudo são avaliar a prevalência, extensão e severidade de perda clínica de inserção (NCI); e investigar as possíveis associações entre variáveis demográficas, socioeconômicas e comportamentais com NCI em uma população isolada brasileira. MATERIAL E MÉTODO: Todos os indivíduos com mais de 12 anos de idade foram identificados por um censo. Eles foram entrevistados por meio de um questionário estruturado e submetidos a um exame clínico completo que consistiu na avaliação de 6 sítios por dente em toda a boca. RESULTADOS: Dentre os 214 indivíduos que foram entrevistados e receberam exame clínico completo, NCI >= 5mm foi observado em 8%, 37%, 70%, 83% e 100% dos indivíduos dentados nas faixas etárias de 12-19, 20-29, 30- 39, 40-49 e 50 ou mais anos de idade; enquanto que a prevalência de NCI >= 7mm foi de 5%, 8%, 20%, 67% e 83% nas faixas anteriormente descritas, respectivamente. Análises de regressão logística multivariável identificaram quantidade de placa visível (OR = 2,8), quantidade de cálculo supra-gengival (20-50%, OR = 2,9; e > 50%, OR= 10,6), idade (OR = 11,4) e tabagismo (OR = 2,4) como indicadores de risco para NCI >= 5mm; e tabagismo (OR = 8,2) para NCI >= 7mm. CONCLUSÃO: Os resultados demonstraram que perda clínica de inserção é altamente prevalente nesta população isolada. A alta prevalência de NCI em faixas etárias jovens e a identificação de indicadores de risco tradicionais para NCI nesta população sugerem que fatores microbiológicos ou a susceptibilidade para a exposição de fatores ambientais possam ser considerados fatores-chave para a alta ocorrência encontrada nesta população. / The aim of this study was to assess the prevalence, extent and severity of clinical attachment loss (CAL); and to investigate the associations between demographic, socioeconomic and behavioral risk indicators with CAL in an untreated isolated population in Brazil. METHODS: All subjects aged 12 years forward were selected by a census. They were submitted to a full-mouth clinical examination of six sites per tooth and were interviewed using a structured written questionnaire. RESULTS: Among the 214 subjects who were interviewed and clinical examined, CAL >= 5mm was observed in 8%, 37%, 70%, 83%, and 100% of the dentate subjects, depending on age; while the age dependent prevalence of CAL >= 7mm was 5%, 8% 20%, 67% and 83%, respectively. Multivariate analysis identified amount of plaque (OR=2.8), thresholds of supragingival calculus (OR=2.9-10.6), age (OR=11.4) and smoking (OR=2.4) as risk indicators for CAL >= 5mm, and smoking (OR=8.2) for CAL >= 7mm. CONCLUSION: The results demonstrate that CAL is highly prevalent in this isolated population. The high prevalence of CAL in young age groups and the observation of traditional risk indicators for CAL in this population suggest microbiological factors or host susceptibility to be key factors explaining the high levels of CAL found in this population.

Os objetivos deste estudo são avaliar a prevalência, extensão e severidade de perda clínica de inserção (NCI); e investigar as possíveis associações entre variáveis demográficas, socioeconômicas e comportamentais com NCI em uma população isolada brasileira. MATERIAL E MÉTODO: Todos os indivíduos com mais de 12 anos de idade foram identificados por um censo. Eles foram entrevistados por meio de um questionário estruturado e submetidos a um exame clínico completo que consistiu na avaliação de 6 sítios por dente em toda a boca. RESULTADOS: Dentre os 214 indivíduos que foram entrevistados e receberam exame clínico completo, NCI >= 5mm foi observado em 8%, 37%, 70%, 83% e 100% dos indivíduos dentados nas faixas etárias de 12-19, 20-29, 30- 39, 40-49 e 50 ou mais anos de idade; enquanto que a prevalência de NCI >= 7mm foi de 5%, 8%, 20%, 67% e 83% nas faixas anteriormente descritas, respectivamente. Análises de regressão logística multivariável identificaram quantidade de placa visível (OR = 2,8), quantidade de cálculo supra-gengival (20-50%, OR = 2,9; e > 50%, OR= 10,6), idade (OR = 11,4) e tabagismo (OR = 2,4) como indicadores de risco para NCI >= 5mm; e tabagismo (OR = 8,2) para NCI >= 7mm. CONCLUSÃO: Os resultados demonstraram que perda clínica de inserção é altamente prevalente nesta população isolada. A alta prevalência de NCI em faixas etárias jovens e a identificação de indicadores de risco tradicionais para NCI nesta população sugerem que fatores microbiológicos ou a susceptibilidade para a exposição de fatores ambientais possam ser considerados fatores-chave para a alta ocorrência encontrada nesta população. / The aim of this study was to assess the prevalence, extent and severity of clinical attachment loss (CAL); and to investigate the associations between demographic, socioeconomic and behavioral risk indicators with CAL in an untreated isolated population in Brazil. METHODS: All subjects aged 12 years forward were selected by a census. They were submitted to a full-mouth clinical examination of six sites per tooth and were interviewed using a structured written questionnaire. RESULTS: Among the 214 subjects who were interviewed and clinical examined, CAL >= 5mm was observed in 8%, 37%, 70%, 83%, and 100% of the dentate subjects, depending on age; while the age dependent prevalence of CAL >= 7mm was 5%, 8% 20%, 67% and 83%, respectively. Multivariate analysis identified amount of plaque (OR=2.8), thresholds of supragingival calculus (OR=2.9-10.6), age (OR=11.4) and smoking (OR=2.4) as risk indicators for CAL >= 5mm, and smoking (OR=8.2) for CAL >= 7mm. CONCLUSION: The results demonstrate that CAL is highly prevalent in this isolated population. The high prevalence of CAL in young age groups and the observation of traditional risk indicators for CAL in this population suggest microbiological factors or host susceptibility to be key factors explaining the high levels of CAL found in this population.

Diplomová práce se zabývá původem a demografickými charakteristikami geograficky izolovaných, nedávno vzniklých populací hýla rudého (Carpodacus erythrinus) na západním okraji areálu druhu. Práce je zalo.ena na nově získaných sekvencích dvou úseků mitochondriální DNA (410 páru bazí dlouhá sekvence kontrolní oblasti a 1029 dlouhá sekvence genu ND2) zji.těných u 82 jedinců ze 13 lokalit a jejich srovnáním s publikovanými sekvencemi z kontinuálního areálu. Zjistila jsem, .e geograficky izolované populace ze střední a severní Evropy nejsou významně geneticky izolované od populací kontinuálního areálu. Nově vzniklé populace také vykazují překvapivě vysokou diverzitu srovnatelnou s asijskými populacemi. Tato zji.tění nasvědčují intenzivnímu toku genů mezi populacemi zprostředkovanému pravděpodobně převá.ně disperzí mladých ptáků před prvním zahnízděním. Navzdory intenzivnímu toku genů mezi kontinuálním areálem a středo- a severoevropskými izolovanými populacemi hýli z Kavkazu, Bulharska a Turecka utvořili jasně oddělenou skupinu, která byla podpořena na základě několika typů analýz. Zdá se tedy, .e jedinci z těchto oblastí mohou mít vlastní oddělené zimovi.tě, komunikují jen minimálně se zbytkem areálu a díky tomu jsme zde zřejmě svědky počínající speciace. Klíčová slova: Hýl rudý (Carpodacus...

The African wild dog, second most endangered carnivore in Africa, has a well-developed, highly cooperative pack system. The usual structure of a pack consists of a dominant breeding pair, the alpha male and female, several subordinates, non-breeding adults and dependent offspring. Domestic dog microsatellites were used to study the parentage in three packs and confirm that more than one dog, including the subordinate males, can sire pups within a litter as previously suggested. The study was performed on two isolated populations of wild dogs in the North West Province of South Africa. In Madikwe Game Reserve, skin samples from 47 dogs were obtained by means of biopsy darts (adults) and skin slivers taken from the ear (subadults) and stored in absolute ethanol. In Pilanesberg National Park, blood samples from 18 captured dogs were collected in EDTA blood tubes. The wild dogs were photographed and individually identified according to coat patterns. Behavioural data to determine ranking were collected from all three packs. DNA was extracted from collected samples using proteinase-K digestion followed by isolation of DNA with phenol/chloroform/isoamyl alcohol. A total of 16 microsatellite loci that consistently amplified and appeared to be polymorphic in wild dogs, were used. Polymerase Chain Reaction (PCR) was performed using two panels of microsatellite loci in multiplex reactions. An amount of 1 µl of PCR product was loaded on to the 3130 XL Genetic Analyser with Genescan 500 LIZ (Applied Biosystems) size standard and analysed using STRand (Board of Regents, University of California) software program. CERVUS 2.0 software was used to calculate allele frequencies, expected and observed heterozygosity, frequency of null alleles, polymorphic information content and exclusion probabilities for parentage assignment. Parentage verification was also performed manually. The parentage analysis revealed that at least one pup was not sired by the alpha male in each of the five litters studied. Although previous studies suggested that the alpha male sires the majority of offspring in the pack, our results confirm that subordinate males commonly sire pups with the alpha female if and when the opportunity arises. This is possibly a mechanism to decrease the effects of inbreeding. / Dissertation (MSc (Veterinary Sciences))--University of Pretoria, 2006. / Production Animal Studies / unrestricted

The population of northern Sweden has previously been shown to be well suited for the mapping of monogenic diseases. In this thesis we have tested the hypothesis that this population could also be used for efficient identification of risk genes for common diseases. In Paper I we have hypothesised that despite the admixture of Swedish, Finnish and Sami, the northern Swedish population consists of sub-populations geographically restricted by the main river valleys running through the region. This geographic isolation, in combination with founder effects and genetic drift, could represent a unique resource for genetic studies. On the other hand, it also underlines the importance of accounting for this e.g. in genetic association studies. To test this hypothesis, we studied the patterns of marriage within and between river valley regions and compared allelic frequencies of genetic markers between these regions. The tendency to find a spouse and live in the river valley where one was born is strong, and allelic frequencies of genetic markers vary significantly between adjacent regions. These data support our hypothesis that the river valleys are home to distinct sub-populations and that this is likely to affect mapping of genetic diseases in these populations. In Paper II, we tested the applicability of the population in mapping HSAN V, a monogenic disease. This disease was identified in only three consanguineous individuals suffering from a severe loss of deep pain perception and an impaired perception of heat. A genome-wide scan combined with sequencing of candidate genes resulted in the identification of a causative point mutation in the nerve growth factor beta (NGFB) gene. In Paper III, a large family with multiple members affected by familial forms of type 1 diabetes mellitus (T1DM) and autoimmune thyroiditis (AITD) was studied. This syndrome was mapped to the IDDM12 region on 2q33, giving positive lodscores when conditioning on HLA haplotype. The linkage to HLA and to the IDDM12 region thus confirmed previous reports of linkage and/or association of T1DM and AITD to these loci and provided evidence that the same genetic factors may be mediating these diseases. This also supported the feasibility of mapping complex diseases in northern Sweden by the use of familial forms of these diseases. In Paper IV, we applied the same approach to study type 2 diabetes mellitus (T2DM). A non-parametric genome-wide scan was carried out on a family material from northern Sweden, and linkage was found to the calpain-10 locus, a previously described T2DM-susceptibility gene on 2q37. Together, these findings demonstrate that selecting for familial forms of even complex diseases, and choosing families from the same geographical region can efficiently reduce the genetic heterogeneity of the disease and facilitate the identification of risk genes for the disease.