Genetic polymorphisms underlying the skeletal Class III phenotype.

INTRODUCTION: Our goal was to verify the association between candidate polymorphisms and skeletal Class III malocclusion in a well-characterized homogeneous sample set. METHODS: Thirty-five single-nucleotide polymorphisms were studied from 10 candidate loci in 54 Class III subjects and 120 controls. Skeletal Class III characteristics included ANB angle less than 0°, SNB angle greater than 83° (mandibular prognathism), SNA angle less than 79° (maxillary deficiency), Class III molar relationship, and negative overjet. Inclusion criteria for the controls were ANB angle between 0° and 4°, Class I molar relationship, and normal overjet. Chi-square and Fisher exact tests and principal component (PC) analysis were used to determine overrepresentation of marker alleles with alpha of 0.05. Odds ratios and 95% confidence intervals were calculated. RESULTS: MYO1H (rs10850110 AG) (P = 0.001) with PC2 and between FGF10 (rs593307 A

Genetic association for caries susceptibility among cleft lip and/or palate individuals.

AIM: To evaluate the association of the polymorphisms in the TGFB3 gene (rs2268626), and the BMP4 gene (rs17563) with dental caries in two different groups (noncleft group and oral cleft group) from a cleft center located at Rio de Janeiro, Brazil. MATERIALS AND METHODS: A total of 486 unrelated children and adolescents with or without caries were evaluated using a cohort design. Data on oral health habits was obtained through a questionnaire and caries data was collected by clinical examination. Genotyping of the selected polymorphisms for TGFB3 and BMP4 were carried out by real-time PCR using the TaqMan assay method from a genomic DNA isolated from buccal epithelial cells of all children and adolescents. RESULTS: No association was found between BMP4 polymorphism and caries among individuals from both groups. For TGFB3 polymorphism, significant differences were observed for allele and genotype frequencies between caries free and caries affected individuals in oral cleft group (p = 0.013 and 0.006 for allele and genotype frequencies respectively). CONCLUSION: Our findings provide evidence suggesting that TGFB3 may be involved in caries susceptibility in oral cleft group. CLINICAL SIGNIFICANCE: In the future, the possibility of identifying genes related to caries susceptibility can lead to counseling of the individual that carries gene alterations, with the aim of working on preventive measures for caries as well as bioengineering treatments.

O sociodrama como estratégia de pesquisa qualitativa junto a Agentes Comunitários de Saúde / Sociodrama as a qualitative research strategy with Community Health Workers

RESUMO Os Agentes Comunitários de Saúde (ACS) são atores estratégicos para os cuidados de saúde mental na Atenção Básica de Saúde (ABS), pois sua proximidade com a comunidade potencializa as condições de cuidados relativos à reabilitação psicossocial. Trata-se de um estudo exploratório de natureza qualitativa e participativo, que buscou identificar os impasses e desafios enfrentados pelos ACS no trabalho em saúde mental, utilizando o sociodrama adaptado à metodologia qualitativa, cujas técnicas foram a observação participante e os Grupos Focais. O estudo corresponde a uma Pesquisa de Implementação, ocorrida em 2019, que buscou qualificar o cuidado em saúde mental de uma rede de saúde de um município paulista de médio porte. Participaram 68 ACS do mesmo município, por meio de 5 sessões sociodramáticas, e os resultados foram analisados a partir da análise de conteúdo categorial temático. Em suma, o trabalho apontou que, embora os ACS apresentem grandes contribuições para o cuidado em saúde mental no território, ainda existem desafios importantes para a consolidação de sua prática; o sociodrama foi uma estratégia potente para acessar esses desafios, constituindo-se em uma ferramenta valiosa para captar fenômenos que envolviam a subjetividade e as relações sociais, inerentes às pesquisas qualitativas em saúde.

ABSTRACT Community Health Workers (CHW) are strategic actors for mental health care in Primary Health Care (PHC), as their proximity to the community enhances the conditions of care related to psychosocial rehabilitation. This is an exploratory study of a qualitative and participatory nature, which sought to identify the impasses and challenges faced by the CHW in mental health work, using sociodrama adapted to the qualitative methodology, in which the techniques were participant observation and focus groups. The study corresponds to an implementation survey, occurred in 2019, which sought to qualify the mental health care of a health network in a medium-sized municipality in São Paulo. Sixty-eight CHW from the same municipality participated, through 5 sociodramatic sessions, and the results were analyzed based on thematic categorical content analysis. In short, the work pointed out that although the CHW present great contributions to mental health care in the territory, there are still important challenges for the consolidation of its practice; sociodrama was a powerful strategy to address these challenges, being a valuable tool to capture phenomena involving subjectivity and social relationships, inherent in qualitative health research.

Teoria da mudança para implementação de apoio matricial em saúde mental / Theory of change para implementación del apoyo matricial en salud mental / Theory of change for implementing matrix support in mental health

Resumo Objetivo Descrever o processo de elaboração da theory of change para implementação do Apoio Matricial em um município paulista de médio porte e refletir sobre contribuições dessa abordagem para o planejamento e avaliação dessa intervenção considerando as potencialidades e desafios a partir de sua execução no formato remoto. Métodos Estudo qualitativo realizado por meio de oficinas participativas e construção de narrativas com trabalhadores e gestores da Rede de Atenção Psicossocial seguindo as recomendações de um guia para o desenvolvimento de theory of change em intervenções complexas. Resultados A implementação do Apoio Matricial configura um dos três resultados distais que culminam na possibilidade de estabelecer a lógica do cuidado compartilhado relacionando-se à ativação da rede intersetorial e a implementação de um Comitê de Educação Permanente. Ainda foram reconhecidos componentes externos que deveriam ser garantidos pelo contexto organizacional para o efetivo alcance de alguns resultados intermediários e de longo prazo. Conclusão A elaboração da theory of change foi efetiva em delimitar objetivos e componentes da implementação a partir da perspectiva dos atores envolvidos, estabelecendo indicadores para seu monitoramento e avaliação a partir das condições do contexto e possibilitando o direcionamento de esforços dos trabalhadores para sua consolidação.

Resumen Objetivo Describir el proceso de elaboración de la theory of change para implementar el apoyo matricial en un municipio paulista de medio porte y reflexionar sobre las contribuciones de este enfoque para la planificación y evaluación de esta intervención, considerando las posibilidades y desafíos a partir de su ejecución en formato remoto. Métodos Estudio cualitativo realizado por medio de talleres participativos y construcción de narrativas con trabajadores y gerentes de la Red de Atención Psicosocial, siguiendo las recomendaciones de una guía para la elaboración de la theory of change en intervenciones complejas. Resultados La implementación del apoyo matricial configura uno de los tres resultados distales que culminan en la posibilidad de establecer la lógica del cuidado compartido y se relaciona con la activación de la red intersectorial y la implementación de un Comité de Educación Permanente. Además, se reconocieron componentes externos que deberían estar garantizados por el contexto organizacional para llegar a algunos resultados intermedios y de largo plazo. Conclusión La elaboración de la theory of change fue efectiva para definir objetivos y componentes de la implementación a partir de la perspectiva de los actores involucrados, lo que permitió establecer indicadores para su monitoreo y evaluación a partir de las condiciones del contexto y orientar los esfuerzos de los trabajadores para su consolidación.

Abstract Objective To describe the process of development of the theory of change for the implementation of Matrix Support in a medium-sized municipality in São Paulo and to reflect on the contributions of this approach to the planning and evaluation of this intervention, considering the potentialities and challenges from its execution remotely. Methods Qualitative study performed through participatory workshops and construction of narratives with workers and managers of the Psychosocial Care Network following the recommendations of a guide for the development of the theory of change in complex interventions. Results The implementation of Matrix Support configures one of the three distal results that culminate in the possibility of establishing the logic of shared care related to the activation of intersectoral network and the implementation of a Continuing Education Committee. External components that should be guaranteed by the organizational context for the effective achievement of some intermediate and long-term results were also recognized. Conclusion The development of the theory of change was effective in delimiting objectives and implementation components from the perspective of the actors involved, establishing indicators for its monitoring and evaluation based on context conditions, and enabling the direction of workers' efforts towards its consolidation.

DLX1 and MMP3 contribute to oral clefts with and without positive family history of cancer.

OBJECTIVE: It has been suggested that oral clefts and cancer share a common genetic background. This study aimed to investigate the epidemiological and molecular association between oral clefts and cancer. METHODS: One hundred forty-eight nuclear families with oral clefts and 162 subjects with no birth defect were recruited. Data on self-reported family history of cancer among first, second, and third degree relatives of each patient were collected via a structured questionnaire. We also investigated the association between polymorphisms in the genes AXIN2, BMP2, BMP4, BMP7, DLX1, DLX2, and MMP3 and oral cleft with and without history of cancer. Markers in these genes were genotyped using real time PCR. Chi-square and t-test were used to assess the differences about self-reported family history of cancer between oral cleft and non-cleft individuals. The transmission disequilibrium test (TDT) was used to analyze the distortion of the inheritance of alleles from parents to their affected offspring. RESULTS: Families with oral clefts had an increased risk of having a family history of cancer (p=0.01; odds ratio=1.79; 95% confidence interval, 1.07-1.87). TDT results showed an association between DLX1 and cleft lip and palate, in which the A allele was undertransmited (p=0.022). For MMP3, G was undertransmited among affected progeny (p=0.019) in cleft palate subgroup. CONCLUSION: Oral clefts were associated with positive self-reported family history of cancer and with variants in DLX1 and MMP3. The association between oral clefts and cancer raises interesting possibilities to identify risk markers for cancer.

The action of prostaglandins on ciliary hypertrichosis: a case report of pachydermoperiostosis.

Pachydermoperiostosis or primary hypertropic osteoarthropathy is a rare hereditary disorder that was first described in 1868. It is characterized by digital clubbing, pachydermia (thickening of the facial skin and/or scalp), and periostosis (swelling of periarticular tissue and subperiosteal new bone formation). We report a case of a patient with the complete form of the disease, and with a unique appearance of the hair shaft and eyelashes. The authors propose a possible mechanism to justify the abnormalities observed in the patient's hair shafts regarding the metabolism of prostaglandins and its relationship with the hair follicle physiological cycle.

Clinical and genetic analysis of a nonsyndromic oligodontia in a child.

The etiology of tooth agenesis may be related to several factors, among them, the genetic alterations that play a fundamental role in the development of this dental anomaly, so that knowledge about it helps the clinician to have a greater understanding of their patients. Thus, the aim of this study was to report the case of a nonsyndromic child, with tooth agenesis of one premolar, three first permanent molars, and all second permanent molars. In addition, a genetic research between polymorphic variants in genes MMP3 and BMP2 was performed in order to observe the association between changes in these genes and congenital tooth absences. For this purpose, DNA from child was extracted and polymorphisms were investigated. It was clinically and radiographically observed that this was a case of oligodontia, in which the authors suggested an association between the polymorphisms found and tooth agenesis diagnosed in that child.

Fine mapping of locus Xq25.1-27-2 for a low caries experience phenotype.

OBJECTIVE: The purpose of this study was to fine map the locus Xq25.1-27-2 in order to identify genetic contributors involved in low caries experience. DESIGN: Seventy-two families from the Philippines were studied. Caries experience was recorded and genomic DNA extracted from peripheral blood was obtained from all subjects. One hundred and twenty-eight polymorphisms in the locus Xq25.1-27-2, a region that contains 24 genes, were genotyped. Association between caries experience and alleles was tested using the transmission disequilibrium test (TDT). This initial analysis was followed by experiments with DNA samples from 1481 subjects from Pittsburgh, 918 children from Brazil, and 275 children from Turkey in order to follow up the results found in the Filipino families. Chi-square or Fisher's exact tests were used. Sequencing of the coding regions and exon-intron boundaries of MST4 and FGF13 were also performed on 91 women from Pittsburgh. RESULTS: Statistically significant association with low caries experience was found for 11 markers in Xq25.1-27-2 in the Filipino families. One marker was in MST4, another marker was in FGF13, and the remaining markers were in intergenic regions. Haplotype analysis also confirmed these results, but the follow up studies with DNA samples from Pittsburgh, Brazil, and Turkey showed associations for a subset of the 11 markers. No coding mutations were identified by sequencing. CONCLUSIONS: Our study failed to conclusively demonstrate that genetic factors in Xq25.1-27-2 contribute to caries experience in multiple populations.