Conduta de Autolesão não Suicida em Adolescentes

A autolesão não suicida na adolescência tem recebido atenção de pesquisadores em virtudedo aumento de casos relatados nas escolas e mídias sociais, porém, o tema ainda é pouco focalizado na produção científica. Por tanto, este estudo tem objetivo de investigar, quais são as características, nos aspectos modos de conduta, sociodemográficos e psicológicos de pessoas, sem psicopatologia, que apresentam conduta autolesiva não suicida. Trata-se de um estudo qualitativo realizado através de estudos publicados nas bases de dados Scientific Eletronic Library (SciELO), Portal de Periódicos Eletrônicos de Psicologia (PePSIC) e no Catálogo de Teses e Dissertações, utilizando os descritores: autolesão, automutilação, adolescência, em diversas combinações de artigos de pesquisas de campo com o acesso liberado entre os anos de 2014 a 2019. Discute-se que a autolesão em adolescentes precisa ser compreendida como sendo configurada a partir dos condicionantes histórico-sociais que permeiam a experiência do que é ser adolescente na sociedade atual e torna-se importante que o psicólogo escolar atue considerando as conjunturas presentes na atualidade e que sua ação se volte para finalidades transformadoras. A população sem psicopatologia que apresenta autolesão não suicida são pessoas que se cortam na superfície da pele, podendo variar, na fase da adolescência com idades entre dez e dezoito anos, de classe baixa e média, morando com um dos progenitores, vivenciam fortes conflitos e emoções adversas e se lesionam no intuído de se sentirem melhor.

Association of MICA and HLA-B alleles with leprosy in two endemic populations in Brazil.

Leprosy is a prevalent disease in Brazil, which ranks as the country with the second highest number of cases in the world. The disease manifests in a spectrum of forms, and genetic differences in the host can help to elucidate the immunopathogenesis. For a better understanding of MICA association with leprosy, we performed a case-control and a family-based study in two endemic populations in Brazil. MICA and HLA-B alleles were evaluated in 409 leprosy patients and in 419 healthy contacts by PCR-SSOP-Luminex-based technology. In the familial study, analysis of 46 families was completed by direct sequencing of all exons and 3'/5'untranslated regions, using the Ilumina MiSeq platform. All data were collected between 2006 and 2009. Statistical analysis was performed using the Chi-square or Fisher's exact test together with a multivariate analysis. Family-based association was assessed by transmission disequilibrium test (TDT) software FBAT 2.0.4. We found associations between the haplotype MICA*002-HLA-B*35 with leprosy in both the per se and the multibacillary (MB) forms when compared to healthy contacts. The MICA allele *008 was associated with the clinical forms of paucibacillary (PB). Additionally, MICA*029 was associated with the clinical forms of MB. The association of MICA*029 allele (MICA-A4 variant) with the susceptibility to the MB form suggests this variant for the transmembrane domain of the MICA molecule may be a risk factor for leprosy. Two MICA and nine HLA-B variants were found associated with leprosy per se in the Colônia do Prata population. Linkage disequilibrium analysis revealed perfect linkage disequilibrium (LD) between HLA-B markers rs2596498 and rs2507992, and high LD (R2  = .92) between these and the marker rs2442718. This familial study demonstrates that MICA association signals are not independent from those observed for HLA-B. Our findings contribute the knowledge pool of the immunogenetics of Hansen's disease and reveals a new association of the MICA*029 allele.

Association of MICA and HLA­B alleles with leprosy in two endemic populations in Brazil

Leprosy is a prevalent disease in Brazil, which ranks as the country with the second highest number of cases in the world. The disease manifests in a spectrum of forms, and genetic differences in the host can help to elucidate the immunopathogenesis. For a better understanding of MICA association with leprosy, we performed a case­control and a family­based study in two endemic populations in Brazil. MICA and HLA­B alleles were evaluated in 409 leprosy patients and in 419 healthy contacts by PCR­SSOP­Luminex­based technology. In the familial study, analysis of 46 families was completed by direct sequencing of all exons and 3'/5'untranslated regions, using the Ilumina MiSeq platform. All data were collected between 2006 and 2009. Statistical analysis was performed using the Chi­square or Fisher's exact test together with a multivariate analysis. Family­based association was assessed by transmission disequilibrium test (TDT) software FBAT 2.0.4. We found associations between the haplotype MICA*002­HLA­B*35 with leprosy in both the per se and the multibacillary (MB) forms when compared to healthy contacts. The MICA allele *008 was associated with the clinical forms of paucibacillary (PB). Additionally, MICA*029 was associated with the clinical forms of MB. The association of MICA*029 allele (MICA­A4 variant) with the susceptibility to the MB form suggests this variant for the transmembrane domain of the MICA molecule may be a risk factor for leprosy. Two MICA and nine HLA­B variants were found associated with leprosy per se in the Colônia do Prata population. Linkage disequilibrium analysis revealed perfect linkage disequilibrium (LD) between HLA­B markers rs2596498 and rs2507992, and high LD (R2 = .92) between these and the marker rs2442718. This familial study demonstrates that MICA association signals are not independent from those observed for HLA­B. Our findings contribute the knowledge pool of the immunogenetics of Hansen's disease and reveals a new association of the MICA*029 allele(AU).

Bioactive and biocompatible cement as a single element in pulpotomy of deciduous teeth: a randomized clinical trials / Cimento bioativo e biocompatível como elemento único em pulpotomia de dentes decíduos: ensaio clínico randomizado

ABSTRACT Objective: Pulpotomy in deciduous teeth maintains the integrity and health of deciduous teeth and supporting tissues until a permanent tooth has erupted. PBS HD CIMMO® cement was evaluated in deciduous teeth pulpotomies as base material and restoration. A randomized clinical trial was performed Methods: This study was approved by the Ethics Committee of (Universidade Vale do Sapucaí) UNIVÁS with Certificate of Presentation for Ethical Consideration, protocol number is: 1.771.929. 60 deciduous molar teeth from 32 healthy children were selected. These teeth were divided into two groups: G1 with 30 teeth, in which the classictreatment with formocresol was used, and G2 with 30 teeth, in which PBS HD CIMMO® cement was used as base and simultaneous final restoration. The evaluation was performed 12 months after the intervention through clinical and radiographic exams. Fisher's exact test was performed to correlate the clinical and radiographic aspects in both groups Results: There was no significant difference (p= 0.090) in the clinical-radiographic evaluation. PBS HD CIMMO® cement is option to be used as a single element in pulpotomies of deciduous teeth Conclusion: Longitudinal studies should be performed in order to demonstrate a significant association between these groups. The study was enrolled in clinical trials (clinical trials.gov) with registration NCT03200938.

RESUMO Objetivos: A pulpotomia em dentes decíduos mantém a integridade e a saúde dos dentes decíduos e dos tecidos de suporte, até a erupção de um dente permanente. O cimento PBS HD CIMMO® foi avaliado em pulpotomias de dentes decíduos como material de base e restauração. Um ensaio clínico randomizado foi realizado. Métodos: Este estudo foi aprovado pelo Comitê de Ética da Universidade Vale do Sapucaí, UNIVÁS, com Certificado de Apresentação para Consideração Ética, número do protocolo: 1.771.929. Foram selecionados 60 dentes molares decíduos de 32 crianças saudáveis. Esses dentes foram divididos em dois grupos: G1 com 30 dentes, no qual foi utilizado o tratamento clássico com formocresol e G2 com 30 dentes, no qual o cimento PBS HD CIMMO® foi utilizado como base e restauração final simultânea. A avaliação foi realizada 12 meses após a intervenção através de exames clínicos e radiográficos. O teste exato de Fisher foi utilizado para correlacionar os aspectos clínicos e radiográficos nos dois grupos. Resultados: Não houve diferença significativa (p = 0,090) na avaliação clínico-radiográfica. O cimento PBS HD CIMMO® é uma opção para ser usado como um elemento único em pulpotomias de dentes decíduos. Conclusão: Estudos longitudinais devem ser realizados para demonstrar uma associação significativa entre esses grupos. O estudo foi inscrito em ensaios clínicos (Clinical Trials.gov) com o registro NCT03200938.

Inflammatory cytokines in leprosy reactions and periodontal diseases.

The inflammatory cytokines involved in the immune response to chronic periodontal disease (CPD) in the context of leprosy reactions (LR) were analyzed in 57 new cases of multibacillary leprosy (MBL). They were stratified by the presence of CPD and LR. Messenger RNA (mRNA) expression of inflammatory mediators was determined by qRT-PCR using skin biopsy and by ELISA using serum samples, maintaining 5% of significance level in ANOVA and correlation analyses. Twenty-three (40.4%) patients presented the first LR, whereas 22 (45.0%) patients presented CPD. IL-4 and IL-6 serum levels were significantly lower in patients with CPD and LR than in patients without CPD but with LR; IFN-γ serum levels were higher in patients with CPD and LR than in patients with no CPD and no LR; IL-4 serum levels were negatively correlated with TNF-α gene expression, while IL-6 serum levels were positively correlated with IFN-γ gene expression, in the skin of subjects with CPD and LR. The presence of DPC in individuals with LR immunoregulated IL-6, IFN-γ, and IL-4 concentrations. The presence of DPC decreased serum levels of IL-6 and IL-4 in reactional individuals. CPD concomitant to LR resulted in increased IFN-γ serum levels.

Inflammatory cytokines in leprosy reactions and periodontal diseases

The inflammatory cytokines involved in the immune response to chronic periodontal disease (CPD) in the context of leprosy reactions (LR) were analyzed in 57 new cases of multibacillary leprosy (MBL). They were stratified by the presence of CPD and LR. Messenger RNA (mRNA) expression of inflammatory mediators was determined by qRT-PCR using skin biopsy and by ELISA using serum samples, maintaining 5% of significance level in ANOVA and correlation analyses. Twenty-three (40.4%) patients presented the first LR, whereas 22 (45.0%) patients presented CPD. IL-4 and IL-6 serum levels were significantly lower in patients with CPD and LR than in patients without CPD but with LR; IFN-γ serum levels were higher in patients with CPD and LR than in patients with no CPD and no LR; IL-4 serum levels were negatively correlated with TNF-α gene expression, while IL-6 serum levels were positively correlated with IFN-γ gene expression, in the skin of subjects with CPD and LR. The presence of DPC in individuals with LR immunoregulated IL-6, IFN-γ, and IL-4 concentrations. The presence of DPC decreased serum levels of IL-6 and IL-4 in reactional individuals. CPD concomitant to LR resulted in increased IFN-γ serum levels.

Paracoccidioidomycosis: Current Perspectives from Brazil.

BACKGROUND: This review article summarizes and updates the knowledge on paracoccidioidomycosis. P lutzii and the cryptic species of P. brasiliensis and their geographical distribution in Latin America, explaining the difficulties observed in the serological diagnosis. OBJECTIVES: Emphasis has been placed on some genetic factors as predisposing condition for paracoccidioidomycosis. Veterinary aspects were focused, showing the wide distribution of infection among animals. The cell-mediated immunity was better characterized, incorporating the recent findings. METHODS: Serological methods for diagnosis were also compared for their parameters of accuracy, including the analysis of relapse. RESULTS: Clinical forms have been better classified in order to include the pictures less frequently observesiod. CONCLUSION: Itraconazole and the trimethoprim-sulfamethoxazole combination was compared regarding efficacy, effectiveness and safety, demonstrating that azole should be the first choice in the treatment of paracoccidioidomycosis.

Influence of KIR genes and their HLA ligands in the pathogenesis of leprosy in a hyperendemic population of Rondonópolis, Southern Brazil.

BACKGROUND: The objective of this study was to investigate the association between KIR genes and the immunopathogenesis of leprosy. METHODS: The types of KIR and HLA genes were evaluated by PCR-SSOP-Luminex in 408 patients with leprosy and 413 healthy individuals. Statistical analysis was performed using the Chi-square or Fisher's exact test and stepwise multivariate analysis. RESULTS: There was a higher frequency of activating KIR genes (KIR2DS1, 2DS2 and 3DS1) together with their HLA ligands in the tuberculoid (TT) group as compared to the lepromatous leprosy (LL) group. KIR2DL2/2DL2-C1 was more frequent in the patient, TT and LL groups than in the control group. Borderline patients presented a higher frequency of inhibitory pairs when compared to the control group, and a higher frequency of activating pairs as compared to the LL group. Multivariate analysis confirmed the associations and demonstrated that being a female is a protective factor against the development of the disease per se and the more severe clinical form. CONCLUSIONS: This study showed that activating and inhibitory KIR genes may influence the development of leprosy - in particular, activating genes may protect against the more aggressive form of the disease - thereby demonstrating the role of NK cells in the immunopathology of the disease.

NLRP1 haplotypes associated with leprosy in Brazilian patients.

Polymorphisms in innate immunity genes are known to be involved in the multifactorial susceptibility to Mycobacterium leprae infection. M. leprae can downregulate IL-1ß secretion escaping monocyte digestion. The intracellular receptors NLRPs (NACHT, LRR and PYD domains-containing proteins) sense pathogen associated molecular patterns (PAMPs) activating caspase-1 and IL-1ß secretion in the context of inflammasome. Considering the possible role of inflammasome in the immune response against M. leprae, known single nucleotide polymorphisms (SNPs) in two NLRP genes, NLRP1 and NLRP3, were analyzed in Brazilian leprosy patients. Disease-associated SNPs (5 in NLRP1 and 2 in NLRP3), previously associated to infections and to immunologic disorders, were genotyped in 467 leprosy patients (327 multibacillary, MB; 96 paucibacillary, PB) and in 380 healthy controls (HC) from the state of Sao Paulo (Brazil), and in 183 patients (147MB; 64PB) and 186 HC from Mato Grosso (Brazil). Logistic regression analysis was performed considering susceptibility to leprosy di per se (leprosy versus HC) and clinical form (MB versus PB), adjusting for gender and ethnicity. Whereas none of the considered SNPs were statistically associated with leprosy, the NLRP1 combined haplotype rs2137722/G-rs12150220/T-rs2670660/G resulted significantly more frequent in patients than in HC as well as in PB than in MB. While both associations were lost after correction for gender and ethnicity, the NLRP1 combined haplotype rs2137722/G-rs12150220/A-rs2670660/G resulted strongly associated to PB. NLRP1 might be involved in the susceptibility to leprosy with particular emphasis for PB clinical form. Although preliminary, this is the first report linking NLRPs and inflammasome with leprosy: replication studies as well as functional assays are envisaged to deeper investigate the role of NLRP1 in M. leprae infection. Interestingly, NLRP1 SNPs were previously associated to susceptibility to Crohn disease, suggesting that NLRP1 could be a new modifier gene in common between leprosy and Crohn disease.

Cytokine Polymorphisms, Their Influence and Levels in Brazilian Patients with Pulmonary Tuberculosis during Antituberculosis Treatment.

Cytokines play an essential role during active tuberculosis disease and cytokine genes have been described in association with altered cytokine levels. Therefore, the aim of this study was to verify if IFNG, IL12B, TNF, IL17A, IL10, and TGFB1 gene polymorphisms influence the immune response of Brazilian patients with pulmonary tuberculosis (PTB) at different time points of antituberculosis treatment (T1, T2, and T3). Our results showed the following associations: IFNG +874 T allele and IFNG +2109 A allele with higher IFN- γ levels; IL12B +1188 C allele with higher IL-12 levels; TNF -308 A allele with higher TNF- α plasma levels in controls and mRNA levels in PTB patients at T1; IL17A A allele at rs7747909 with higher IL-17 levels; IL10 -819 T allele with higher IL-10 levels; and TGFB1 +29 CC genotype higher TGF- ß plasma levels in PTB patients at T2. The present study suggests that IFNG +874T/A, IFNG +2109A/G, IL12B +1188A/C, IL10 -819C/T, and TGFB1 +21C/T are associated with differential cytokine levels in pulmonary tuberculosis patients and may play a role in the initiation and maintenance of acquired cellular immunity to tuberculosis and in the outcome of the active disease while on antituberculosis treatment.

Toll-like receptor 1 N248S single-nucleotide polymorphism is associated with leprosy risk and regulates immune activation during mycobacterial infection.

Conflicting findings about the association between leprosy and TLR1 variants N248S and I602S have been reported. Here, we performed case-control and family based studies, followed by replication in 2 case-control populations from Brazil, involving 3162 individuals. Results indicated an association between TLR1 248S and leprosy in the case-control study (SS genotype odds ratio [OR], 1.81; P = .004) and the family based study (z = 2.02; P = .05). This association was consistently replicated in other populations (combined OR, 1.51; P < .001), corroborating the finding that 248S is a susceptibility factor for leprosy. Additionally, we demonstrated that peripheral blood mononuclear cells (PBMCs) carrying 248S produce a lower tumor necrosis factor/interleukin-10 ratio when stimulated with Mycobacterium leprae but not with lipopolysaccharide or PAM3cysK4. The same effect was observed after infection of PBMCs with the Moreau strain of bacillus Calmette-Guerin but not after infection with other strains. Finally, molecular dynamics simulations indicated that the Toll-like receptor 1 structure containing 248S amino acid is different from the structure containing 248N. Our results suggest that TLR1 248S is associated with an increased risk for leprosy, consistent with its hypoimmune regulatory function.

TNF -308G>A single nucleotide polymorphism is associated with leprosy among Brazilians: a genetic epidemiology assessment, meta-analysis, and functional study.

Leprosy is an infectious disease caused by Mycobacterium leprae. Tumor necrosis factor (TNF) plays a key role in the host response. Some association studies have implicated the single nucleotide polymorphism TNF -308G>A in leprosy susceptibility, but these results are still controversial. We first conducted 4 association studies (2639 individuals) that showed a protective effect of the -308A allele (odds ratio [OR] = 0.77; P = .005). Next, results of a meta-analysis reinforced this association after inclusion of our new data (OR = 0.74; P = .04). Furthermore, a subgroup analysis including only Brazilian studies suggested that the association is specific to this population (OR = 0.63; P = .005). Finally, functional analyses using whole blood cultures showed that patients carrying the -308A allele produced higher TNF levels after lipopolysaccharide (LPS) (6 hours) and M. leprae (3 hours) stimulation. These results reinforce the association between TNF and leprosy and suggest the -308A allele as a marker of disease resistance, especially among Brazilians.

Leprosy susceptibility: genetic variations regulate innate and adaptive immunity, and disease outcome.

The past few years have been very productive concerning the identification of genes associated with leprosy. Candidate gene strategies using both case-control and family-based designs, as well as large-scale approaches such as linkage and gene-expression genomic scans and, more recently, genome-wide association studies, have refined and enriched the list of genes highlighting the most important innate and adaptive immune pathways associated with leprosy susceptibility or resistance. During the early events of host-pathogen interaction identified genes are involved in pattern recognition receptors, and mycobacterial uptake (TLRs, NOD2 and MRC1), which modulate autophagy. Another gene, LTA4H, which regulates the levels of lipoxin A4 and possibly interacts with lipid droplet-related events, also plays a role in the early immune responses to Mycobacterium leprae. Together, the activation of these pathways regulates cellular metabolism upon infection, activating cytokine production through NF-κB and vitamin D-vitamin D receptor pathways, while PARK2 and LRRK2 participate in the regulation of host-cell apoptosis. Concomitantly, genes triggered to form and maintain granulomas (TNF, LTA and IFNG) and genes involved in activating and differentiating T-helper cells (HLA, IL10, as well as the TNF/LTA axis and the IFNG/IL12 axis) bridge immunological regulation towards adaptive immunity. Subtle variations in these genes, mostly single nucleotide polymorphisms, alter the risk of developing the disease or the severity of leprosy. Knowing these genes and their role will ultimately lead to better strategies for leprosy prevention, treatment and early diagnosis. Finally, the same genes associated with leprosy were also associated with autoimmune (Crohn's disease, rheumathoid arthritis, psoriasis) or neurodegenerative diseases (Parkinson's and Alzheimer's). Thus, information retrieved using leprosy as a model could be valuable to understanding the pathogenesis of other complex diseases.

IFNG +874 T>A single nucleotide polymorphism is associated with leprosy among Brazilians

Leprosy is a chronic infectious disease caused by Mycobacterium leprae, a low virulence mycobacterium, and the outcome of disease is dependent on the host genetics for either susceptibility per se or severity. The IFNG gene codes for interferon-γ (IFN-γ), a cytokine that plays a key role in host defense against intracellular pathogens. Indeed, single nucleotide polymorphisms (SNPs) in IFNG have been evaluated in several genetic epidemiological studies, and the SNP +874T>A, the +874T allele, more specifically, has been associated with protection against infectious diseases, especially tuberculosis. Here, we evaluated the association of the IFNG locus with leprosy enrolling 2,125 Brazilian subjects. First, we conducted a case-control study with subjects recruited from the state of São Paulo, using the +874 T>A (rs2430561), +2109 A>G (rs1861494) and rs2069727 SNPs. Then, a second study including 1,370 individuals from Rio de Janeiro was conducted. Results of the case-control studies have shown a protective effect for +874T carriers (OR(adjusted) = 0.75; p = 0.005 for both studies combined), which was corroborated when these studies were compared with literature data. No association was found between the SNP +874T>A and the quantitative Mitsuda response. Nevertheless, the spontaneous IFN-γ release by peripheral blood mononuclear cells was higher among +874T carriers. The results shown here along with a previously reported meta-analysis of tuberculosis studies indicate that the SNP +874T>A plays a role in resistance to mycobacterial diseases(AU)

Implementation of a penicillin allergy skin test / Implementação de um teste cutâneo de alergia à penicilina

The penicillin allergy skin testing is the only accurate and reliable test for penicillin hypersensitivity mediated by IgE. It is useful for identifying patients with doubtful history of allergy. Positive test for major and minor determinants presents a positive predictive value of 50 percent and negative predictive value of 99 percent. In Brazil, the Ministry of Health suggests a protocol for in house made reagents, since they are not commercially available. As the referred protocol does not mention some important details about the test procedures, we propose in the present work to implement them, critically evaluating each step in order to allow the protocol establishment at any health service, with quality and safety.

O teste cutâneo para alergia imediata a penicilina é o único teste validado internacionalmente, sendo que sua grande utilidade reside na avaliação de pacientes com história positiva de alergia a penicilina. O teste positivo para determinantes principais e secundários da penicilina apresenta um valor preditivo positivo de 50 por cento e valor preditivo negativo de 99 por cento. Em nosso meio, o Ministério de Saúde disponibiliza um protocolo para o preparo dos reagentes, uma vez que os mesmos não estão disponíveis comercialmente. Como o referido protocolo não apresenta maiores detalhes sobre o cuidado relativo às etapas de preparo das soluções, bem como faltam algumas considerações no que tange a realização do teste, propusemo-nos no presente trabalho operacionalizar o teste, avaliando de forma crítica e minuciosa cada etapa, de forma que outros profissionais possam reproduzi-lo de maneira mais segura e eficaz.

Genetic, epidemiological and biological analysis of interleukin-10 promoter single-nucleotide polymorphisms suggests a definitive role for -819C/T in leprosy susceptibility

Leprosy is a complex infectious disease influenced by genetic and environmental factors. The genetic contributing factors are considered heterogeneous and several genes have been consistently associated with susceptibility like PARK2, tumor necrosis factor (TNF), lymphotoxin-α (LTA) and vitamin-D receptor (VDR). Here, we combined a case–control study (374 patients and 380 controls), with meta-analysis (5 studies; 2702 individuals) and biological study to test the epidemiological and physiological relevance of the interleukin-10 (IL-10) genetic markers in leprosy. We observed that the −819T allele is associated with leprosy susceptibility either in the case–control or in the meta-analysis studies. Haplotypes combining promoter single-nucleotide polymorphisms also implicated a haplotype carrying the −819T allele in leprosy susceptibility (odds ratio (OR)=1.40; P=0.01). Finally, we tested IL-10 production in peripheral blood mononuclear cells stimulated with Mycobacterium leprae antigens and found that −819T carriers produced lower levels of IL-10 when compared with non-carriers. Taken together, these data suggest that low levels of IL-10 during the disease outcome can drive patients to a chronic and unprotective response that culminates with leprosy

Extração de DNA de biópsias de pele fixadas em formalina tamponada e embebidas em parafina e amplificação por PCR / DNA extraction from formalin-fixed and paraffin-embedded skin biopsies and PCR amplification

Biópsias de pele oriundas dos serviços de diagnóstico da hanseníase podem ser grande fonte de material para estudos retrospectivos em genética humana e do Mycobacterium leprae. No entanto, os procedimentos de fixação e inclusão em parafina podem dificultar a obtenção de DNA de qualidade para amplificação por PCR. Assim, estas amostras requerem protocolos especiais para a extração do material genético. O objetivo deste trabalho é apresentar um método alternativo para extração de DNA com base na combinação de calor e digestão enzimática. Para tanto, os cortes foram aquecidos a 120º C em solução tampão de pH 9,0, submetidos à digestão enzimática com proteinase K e o DNA foi extraído por meio de solução de fenol:clorofórmio:álcool isoamílico. A amplificação por PCR para as regiões dos genes humanos TNF e LTA foi bem sucedida para 85,4% dos espécimes. Considerando o DNA do M. leprae, obtivemos amplificação em 67,6%, 48,5%, 36,7% e 64,8% para os marcadores TA18, GTA9, TTC e RLEP, respectivamente. Concluímos que este é um método de baixo custo que proporcionou um rendimento satisfatório de DNA de boa qualidade para emprego em PCR a partir de biópsias parafinadas de pele.

Skin biopsies from leprosy diagnostic services can be great sources of material for retrospective studies concerning human and Mycobacterium leprae genetic. However, fixation and paraffin embedding procedures make difficult to obtain good quality DNA to PCR amplification. Thus, paraffin-embedded samples require special protocols to DNA extraction. The aim of this paper is to present an alternative method for DNA extraction based on the combination of heat and enzymatic digestion. The sections were heated at 120ºC at pH 9.0, submitted to enzymatic digestion with proteinase K and the DNA was extracted by using phenol:chlorophorm:isoamilic alcohol. PCR amplification for regions in TNF and LTA human genes was successful for 85.4 % of specimens. Regarding M. lepraeDNA, we obtained amplification in 67.6%, 48.5%, 36.7% and 64.8% for the TA18, GTA9, TTC and RLEP markers, respectively. We conclude that this is an inexpensive method which provided a satisfactory yield of a good quality DNA for PCR from paraffin- embedded skin biopsies.

Genética humana na susceptibilidade a hanseníase / Human genetic in leprosy susceptibility

Dados de investigações familiares, de estudos comgêmeos e da genômica do Mycobacterium leprae, bemcomo observações sobre a epidemiologia da hanseníase,têm apontado a importância da genética humanacomo determinante do curso da doença desde a resistênciaà dicotomia imunológica que definem os pólostuberculóide e virchowiano. Nesse contexto, estudosde varredura genômica e de associação têm apontadoalgumas regiões genômicas cujas variações são candidatasa fatores de risco para a doença. Entretanto, asassociações já descritas são discretas e não se replicamem todos os estudos, o que evidencia a distinção entreos fatores de risco para diferentes populações, alémde divergências nos desenhos destes estudos, comocausadores destas controvérsias. Assim, esta revisão temo propósito de compilação dos dados já descritos paraas diversas regiões genômicas humanas que devemparticipar do controle genético da hanseníase

Data from familiar investigations, studies involving twins and from Mycobacterium leprae genomic, as well epidemiological observations of leprosy have shown the importance of the human genetic as determinant of the disease’s course, from the resistance, to the immunological dichotomy which defines tuberculoid and lepromatous poles. Thus, studies using genome-wide scan and association methods have shown some genomic regions whose alterations are candidates to risk factors for leprosy. However, these associations are weak and are not repeated in all different studies, which put in evidence the divergence in risk factors for different populations as well in design studies as causatives of this controversial data. In this manner, this review has as purpose the data collection which have already been described about human genomic regions that must participate in the genetic control of leprosy.

A assimetria dentaria e suas complicaçöes no tratamento ortodôntico: apresentaçäo de um caso clínico / Dental asymmetry and its implications in orthodontic treatment: a case report

Este trabalho discute as implicaçöes da assimetria dentária no diagnóstico e plano de tratamento ortodôntico e apresenta o tratamento de um caso de Classe II, divisäo 1, subdivisäo. Os desvios de linha média em consequência das assimetrias dentárias e seu tratamento, também säo discutidos