<p>The objective of this study was to develop and validate a six Non-CODIS miniSTR genotyping system and to determine its suitability for forensic casework in South Africa. In Non-CODIS miniSTR genotyping systems, smaller PCR products are amplified and the primers are positioned as close as possible to the repeat region. For this reason, these systems can be valuable in a variety of scenarios including complex paternity cases, missing persons work, and mass fatality disasters.</p>

<p>The aim of this study was to investigate the genetic diversity of the SLC22A1 gene and to deduce its possible pharmacogenetic implications within the Cape Coloured population of South&nbsp / Africa / a uniquely admixed population of immigrant Europeans, Asians and the indigenous populations. Recent studies have reported an abundance of polymorphic variants within this solute&nbsp / carrier transporter gene encoding for the organic cation transporter 1, as well as evidence linking these variants to an effect on metformin uptake. This study included establishing baseline&nbsp / frequency distribution of previously reported alleles for 20 SNP variants within the SLC22A1 gene, as well as the development of SNaPshot&reg / and Multiplex AS-PCR genotyping assays, and&nbsp / also exploring the possibility of using High-resolution melt (HRM) analysis as a costeffective alternative for SNP genotyping. Ethics clearance was obtained from the Ethics Committee of the&nbsp / University of the Western Cape. Biological samples in the form of buccal (oral) swabs were collected from 132 unrelated voluntary donors from the Cape Coloured population residing in the&nbsp / Cape Metropolitan area. Two SNaPshot&reg / Multiplex Systems were specifically designed for the study,successfully optimized and used for genotyping. Hundred genetic profiles were then generated for a total of 20 SNP variants on SLC22A1 gene, using this primer extension-based genotyping method that enables multiplexing up 10 SNPs. Population genetics data obtained for&nbsp / the investigated SNPs were analysed using various statistical analysis software. Important population genetic parameters were calculated, and possible pharmacogenetics implications were then discussed. Among others, allelic and genotypic frequencies, as well as linkage disequilibrium were determined and compared with world populations. Minor deviation from Hardy- Weinberg equilibrium was observed in the Cape Coloured population. No significantLinkage Disequilibrium between the investigated SNPs was observed in this population. A Multiplex allele specific &ndash / PCR (MAS-PCR) genotyping&nbsp / system was successfully designed and optimized for the genotyping of 10 SNPs from the SLC22A1. This system, also developed specifically for this study, was made of 2 multiplexes each covering 5 SNPs. It is an inexpensive genotyping assay that allows for efficient discrimination of SNP polymorphisms in one reaction tube with standard PCR conditions. A pilot study was&nbsp / conducted to explore the possibility of using High-resolution melt (HRM) analysis as a cost-effective alternative for SNP genotyping. In addition to genotyping, HRM analysis can be used to scan&nbsp / large numbers of samples for novel genetic variations.&nbsp / </p>

<p>The objective of this study was to develop and validate a six Non-CODIS miniSTR genotyping system and to determine its suitability for forensic casework in South Africa. In Non-CODIS miniSTR genotyping systems, smaller PCR products are amplified and the primers are positioned as close as possible to the repeat region. For this reason, these systems can be valuable in a variety of scenarios including complex paternity cases, missing persons work, and mass fatality disasters.</p>

<p>The aim of this study was to investigate the genetic diversity of the SLC22A1 gene and to deduce its possible pharmacogenetic implications within the Cape Coloured population of South&nbsp / Africa / a uniquely admixed population of immigrant Europeans, Asians and the indigenous populations. Recent studies have reported an abundance of polymorphic variants within this solute&nbsp / carrier transporter gene encoding for the organic cation transporter 1, as well as evidence linking these variants to an effect on metformin uptake. This study included establishing baseline&nbsp / frequency distribution of previously reported alleles for 20 SNP variants within the SLC22A1 gene, as well as the development of SNaPshot&reg / and Multiplex AS-PCR genotyping assays, and&nbsp / also exploring the possibility of using High-resolution melt (HRM) analysis as a costeffective alternative for SNP genotyping. Ethics clearance was obtained from the Ethics Committee of the&nbsp / University of the Western Cape. Biological samples in the form of buccal (oral) swabs were collected from 132 unrelated voluntary donors from the Cape Coloured population residing in the&nbsp / Cape Metropolitan area. Two SNaPshot&reg / Multiplex Systems were specifically designed for the study,successfully optimized and used for genotyping. Hundred genetic profiles were then generated for a total of 20 SNP variants on SLC22A1 gene, using this primer extension-based genotyping method that enables multiplexing up 10 SNPs. Population genetics data obtained for&nbsp / the investigated SNPs were analysed using various statistical analysis software. Important population genetic parameters were calculated, and possible pharmacogenetics implications were then discussed. Among others, allelic and genotypic frequencies, as well as linkage disequilibrium were determined and compared with world populations. Minor deviation from Hardy- Weinberg equilibrium was observed in the Cape Coloured population. No significantLinkage Disequilibrium between the investigated SNPs was observed in this population. A Multiplex allele specific &ndash / PCR (MAS-PCR) genotyping&nbsp / system was successfully designed and optimized for the genotyping of 10 SNPs from the SLC22A1. This system, also developed specifically for this study, was made of 2 multiplexes each covering 5 SNPs. It is an inexpensive genotyping assay that allows for efficient discrimination of SNP polymorphisms in one reaction tube with standard PCR conditions. A pilot study was&nbsp / conducted to explore the possibility of using High-resolution melt (HRM) analysis as a cost-effective alternative for SNP genotyping. In addition to genotyping, HRM analysis can be used to scan&nbsp / large numbers of samples for novel genetic variations.&nbsp / </p>

Methodological study, whose objective was to bluid validate the content and appearance of a new version of the instrument for Nursing Consultation in Basic Care for individuals with diabetes mellitus type 2 in Basic Care. The study had as a theoretical framework the Theory of Praxis for Intervention in Collective Health (TPICH) by Emiko Egry. The methodological procedure was based on Pascali's theoretical pole of the psychometric model (2010). In this study of the instrument was developed using the International Classification for Nursing Practice - CIPE® Version 2015. This new version was applied in 21 people with diabetes mellitus type 2 who were registered in a Family Health Unit, in the municipality of Aracaju, in Sergipe; this action constituted the pretest phase. At the end of this stage, the instrument with 122 items went down to 99 items, which were submitted to a panel of eleven judges to validate their content and appearance. Using a Likert scale of three points, the judges evaluated each item regarding their permanence in the instrument; they also judged on the psychometric criteria of: objectivity, clarity, precision, typicality, simplicity, relevance, modality and credibility. Subsequently, the Content Validity Index of each of the items (CVI) was calculated. The categorical data were described by means of simple frequencies and percentages and the continuous or discrete data with average and standard deviation. In this study, the content validity of the items was considered when CVI ≥ 0.80, this according to the methodological referential. The results showed that eight items (local of work protected, police service, insomnia, self-perception, psychological condition, eye disturbances, cut nails and foot with blisters) obtained CVI ˂0.80; the first six items were removed from the instrument, while the last two items remained subitems due to the importance of their assessments in individuals with diabetes mellitus type 2. All other items stayed as they were or with the alterations suggested by the specialists. In validating the appearance, 100% of the judges approved the instrument to collect the data in individuals with diabetes mellitus type 2. The suggestions of the judges were accepted in their majority; therefore, a new evaluation was not necessary. To guide the evaluation actions of nurses, in a homogeneous and unequivocal way, it was written an appropriate instruction guide. In this way, it was found that this new version of the instrument has validity of content and appearance. In order to have a technology that can be reproduced in various nursing services of Basic Care with this we will contribute to the organization of the work process of nurses, granting them autonomy and visibility in their practice. / Estudo metodológico, cujo objetivo foi construir e validar o conteúdo e a aparência do instrumento para a consulta de enfermagem ao indivíduo com diabetes mellitus tipo 2 na Atenção Básica. Teve como marco teórico a Teoria da Intervenção Práxica em Saúde Coletiva de Emiko Egry, e no percurso metodológico foi utilizado o polo teórico do modelo psicométrico de Pasquali (2010). Neste estudo foi desenvolvido um instrumento utilizando a Classificação Internacional para a Prática de Enfermagem - CIPE® Versão 2015. O instrumento foi aplicado em 21 pessoas com diabetes mellitus tipo 2 cadastradas em uma Unidade de Saúde da Família do município de Aracaju, Sergipe, o que se constituiu na fase de pré-teste. Ao término dessa etapa, o instrumento que contava com 122 itens, passou a ter 99 itens, que foram submetidos a um painel de onze especialistas para apreciação do seu conteúdo e aparência. Os especialistas avaliaram cada item quanto à sua permanência no instrumento utilizando uma escala de Likert de três pontos. Também fizeram o julgamento quanto aos critérios psicométricos de objetividade, clareza, precisão, tipicidade, simplicidade, relevância, modalidade e credibilidade. Posteriormente foi calculado o Índice de Validade de Conteúdo de cada um dos itens (IVC). Os dados foram descritos por meio de frequências simples e percentagens, quando categórica, e média e desvio padrão quando, contínua ou discreta. A validade de conteúdo dos itens neste estudo foi considerada quando IVC ≥ 0,80, conforme referencial metodológico. Os resultados mostraram que oito itens (local de trabalho protegido, serviço policial, insônia, percepção sobre si próprio, condição psicológica, distúrbios oculares, unhas cortadas e pé com bolhas) obtiveram IVC˂0,80, os seis primeiros itens foram retirados do instrumento, enquanto os dois últimos permaneceram como subitens devido à importância de suas avaliações no indivíduo com diabetes mellitus tipo 2. Os demais itens permaneceram na íntegra ou com as alterações sugeridas pelos especialistas. Na validação de aparência, 100% dos especialistas aprovaram o instrumento para realização da coleta de dados. Acatou-se a maioria das sugestões dos especialistas sendo desnecessária nova avaliação. Elaborou-se um guia instrucional para nortear as ações de avaliação do usuário de modo homogêneo e inequívoco pelos enfermeiros. Sendo assim, evidenciou-se que a nova versão do instrumento possui validade de conteúdo e aparência, constituindo-se em uma tecnologia passível de ser reproduzida nos diversos serviços de enfermagem da Atenção Básica, com vistas a contribuir para a organização do processo de trabalho dos enfermeiros, conferindo autonomia e visibilidade a sua prática. / Aracaju