Genetics of leprosy: Expected-and unexpected-developments and perspectives.

A solid body of evidence produced over decades of intense research supports the hypothesis that leprosy phenotypes are largely dependent on the genetic characteristics of the host. The early evidence of a major gene effect controlling susceptibility to leprosy came from studies of familial aggregation, twins, and complex segregation analysis. Later, linkage and association analysis, first applied to the investigation of candidate genes and chromosomal regions and more recently, to genome-wide scans, have revealed several HLA and non-HLA gene variants as risk factors for leprosy phenotypes such as disease per se, its clinical forms, and leprosy reactions. In addition, powerful, hypothesis-free strategies such as genome-wide association studies have led to an exciting, unexpected development: Leprosy susceptibility genes seem to be shared with Crohn's and Parkinson's disease. Today, a major challenge is to find the exact variants causing the biological effect underlying the genetic associations. New technologies, such as Next Generation Sequencing-that allows, for the first time, the cost- and time-effective sequencing of a complete human genome-hold the promise to reveal such variants; thus, strategies can be developed to study the functional impact of these variants in the context of infection, hopefully leading to the development of new targets for leprosy treatment and prevention.

Genetics of leprosy: expected -and unexpected- developments and perspectives

A solid body of evidence produced over decades of intense research supports the hypothesis that leprosy phenotypes are largely dependent on the genetic characteristics of the host. The early evidence of a major gene effect controlling susceptibility to leprosy came from studies of familial aggregation, twins, and complex segregation analysis. Later, linkage and association analysis, first applied to the investigation of candidate genes and chromosomal regions and more recently, to genome-wide scans, have revealed several HLA and non-HLA gene variants as risk factors for leprosy phenotypes such as disease per se, its clinical forms, and leprosy reactions. In addition, powerful, hypothesis-free strategies such as genome-wide association studies have led to an exciting, unexpected development: Leprosy susceptibility genes seem to be shared with Crohn's and Parkinson's disease. Today, a major challenge is to find the exact variants causing the biological effect underlying the genetic associations. New technologies, such as Next Generation Sequencing­that allows, for the first time, the cost- and time-effective sequencing of a complete human genome­hold the promise to reveal such variants; thus, strategies can be developed to study the functional impact of these variants in the context of infection, hopefully leading to the development of new targets for leprosy treatment and prevention.

Patients' perception of installation, use and results of orthodontic mini-implants.

The purpose of this study was to evaluate patient acceptance and perception of pain with regard to orthodontic mini-implants. The study was conducted on 58 individuals undergoing orthodontic treatment, who had orthodontic mini-implants placed as anchorage devices. Data were collected using a questionnaire containing 6 questions evaluating perception of pain during mini-implant placement and during use, difficulty with cleaning, unaesthetic appearance, difficulty with eating and benefits observed. Data were tabulated and analyzed using Fisher and Spearman's Correlation Coefficient tests. It was found that 94.8% of the patients reported that they would be willing to undergo treatment with mini-implants again. Of the negative aspects evaluated, the most significant was discomfort during placement, while the least significant was difficulty with eating. Patients' perception of aspects related to mini-implants was shown to be independent of the quantity of these devices placed. Although the patients evaluated some aspects of mini-implants negatively, the mean score for benefits observed was very high, indicating good patient satisfaction with treatment.

Genetics of leprosy: expected and unexpected developments and perspectives.

A solid body of evidence produced over decades of intense research supports the hypothesis that leprosy phenotypes are largely dependent on the genetic characteristics of the host. The early evidence of a major gene effect controlling susceptibility to leprosy came from studies of familial aggregation, twins, and Complex Segregation Analysis. Later, linkage and association analysis, first applied to the investigation of candidate genes and chromosomal regions and more recently, to genome-wide scans, have revealed several leukocyte antigen complex and nonleukocyte antigen complex gene variants as risk factors for leprosy phenotypes such as disease per se, its clinical forms and leprosy reactions. In addition, powerful, hypothesis-free strategies such as Genome-Wide Association Studies have led to an exciting, unexpected development: Leprosy susceptibility genes seem to be shared with Crohn's and Parkinson's diseases. Today, a major challenge is to find the exact variants causing the biological effect underlying the genetic associations. New technologies, such as Next Generation Sequencing that allows, for the first time, the cost and time-effective sequencing of a complete human genome, hold the promise to reveal such variants. Strategies can be developed to study the functional effect of these variants in the context of infection, hopefully leading to the development of new targets for leprosy treatment and prevention.

Genetics of leprosy: expected and unespected developments and perspectives

A solid body of evidence produced over decades of intense research supports the hypothesis that leprosy phenotypes are largely dependent on the genetic characteristics of the host. The early evidence of a major gene effect controlling susceptibility to leprosy came from studies of familial aggregation, twins, and Complex Segregation Analysis. Later, linkage and association analysis, first applied to the investigation of candidate genes and chromosomal regions and more recently, to genome-wide scans, have revealed several leukocyte antigen complex and nonleukocyte antigen complex gene variants as risk factors for leprosy phenotypes such as disease per se, its clinical forms and leprosy reactions. In addition, powerful, hypothesis-free strategies such as Genome-Wide Association Studies have led to an exciting, unexpected development: Leprosy susceptibility genes seem to be shared with Crohn's and Parkinson's diseases. Today, a major challenge is to find the exact variants causing the biological effect underlying the genetic associations. New technologies, such as Next Generation Sequencing that allows, for the first time, the cost and time-effective sequencing of a complete human genome, hold the promise to reveal such variants. Strategies can be developed to study the functional effect of these variants in the context of infection, hopefully leading to the development of new targets for leprosy treatment and prevention.

Patients´perception of installation, use and results of orthodontic mini-implants / Percepção dos pacientes quanto a instalação, uso e resultados dos mini-implantes ortodônticos

The purpose of this study was to evaluate patient acceptance and perception of pain with regard to orthodontic mini-implants.The study was conducted on 58 individuals undergoing orthodontic treatment, who had orthodontic mini-implants placed as anchorage devices. Data were collected using a questionnaire containing 6 questions evaluating perception of pain during mini-implant placement and during use, difficulty with cleaning, unaesthetic appearance, difficulty with eating and benefits observed. Data were tabulated and analyzed using Fisher and Spearman’s Correlation Coefficient tests. It was found that 94.8% of the patients reported that they would be willing to undergo treatment with mini-implants again. Of the negative aspects evaluated, the most significant was discomfort during placement, while the least significant was difficulty with eating. Patients’ perception of aspects related to mini-implants was shown to be independent of the quantity ofthese devices placed. Although the patients evaluated some aspects of mini-implants negatively, the mean score for benefits observed was very high, indicating good patient satisfaction with treatment.

O objetivo do presente estudo foi avaliar a aceitabilidade e percepção dolorosa dos pacientes em relação aos mini-implantes ortodônticos. Este estudo foi realizado com 58 indivíduos em tratamento ortodôntico que tiveram a instalação de mini-implantes ortodônticos como recurso de ancoragem. Oinstrumento de coleta de dados foi um questionário contendo 8 perguntas que avaliaram a percepção dolorosa durante a instalação e uso dos mini-implantes, dificuldade de higienização,aspecto anti-estético, dificuldade de alimentação e os benefíciosobservados. Os dados foram tabulados e analisados pelos testes de Fisher e de Coeficiente de Correlação de Spearman. Os resultados demonstraram que 94,8% dos pacientes relataram que se submeteriam novamente ao tratamento com mini-implantes.Dos aspectos negativos avaliados, o mais significante foi o incômodo e dor durante a instalação, enquanto o menos significante foi dificuldade de alimentação. A percepção dos pacientes sobre os aspectos relacionados aos mini-implantesmostrou-se independente da quantidade desses dispositivos instalados. Conclui-se que apesar da avaliação dos mini-implantes pelos pacientes ter apresentado alguns aspectos negativos, o escore médio dos benefícios observados foi bastante alto, indicando boa satisfação dos pacientes com o tratamento.