Medical care in clinical genetics: an experience of decentralization in southern Brazil.

OBJECTIVE: To describe the population assisted in a genetics outpatient clinic, in a medium-sized town, with respect to diagnosis, type of inheritance, and local impact of genetic care. METHODS: Medical records and genetic consultation forms from 2006 to 2018 were reviewed. The variables analyzed were age, sex, origin, current residence, reason for consultation, professional who requested evaluation, final diagnosis, additional exams and their results. RESULTS: A total of 609 patients were seen, 65.9% aged 0 to 12 years. Genetic syndromes were suspected in 15.1%, and 11% presented developmental delay. Neurogenetic disorders stood out among adults. Mendelian inheritance was more prevalent (17.8%). Requests for genetic consultation have doubled in the last 5 years, with 44.4% due to suspected genetic syndrome. CONCLUSION: Genetic consultations have shown to be an important tool for inpatient care, reducing the waiting time to initiate treatment, attenuating potential associated costs, and guiding the families of patients. Outpatient care provided diagnosis and genetic counseling for users from the city and surrounding region, decreased costs and offered a training environment in medical genetics.

Medical care in clinical genetics: an experience of decentralization in southern Brazil / Atendimento em genética clínica: uma experiência de descentralização na região Sul do Brasil

ABSTRACT Objective: To describe the population assisted in a genetics outpatient clinic, in a medium-sized town, with respect to diagnosis, type of inheritance, and local impact of genetic care. Methods: Medical records and genetic consultation forms from 2006 to 2018 were reviewed. The variables analyzed were age, sex, origin, current residence, reason for consultation, professional who requested evaluation, final diagnosis, additional exams and their results. Results: A total of 609 patients were seen, 65.9% aged 0 to 12 years. Genetic syndromes were suspected in 15.1%, and 11% presented developmental delay. Neurogenetic disorders stood out among adults. Mendelian inheritance was more prevalent (17.8%). Requests for genetic consultation have doubled in the last 5 years, with 44.4% due to suspected genetic syndrome. Conclusion: Genetic consultations have shown to be an important tool for inpatient care, reducing the waiting time to initiate treatment, attenuating potential associated costs, and guiding the families of patients. Outpatient care provided diagnosis and genetic counseling for users from the city and surrounding region, decreased costs and offered a training environment in medical genetics.

RESUMO Objetivo: Descrever a população atendida em um ambulatório de genética, em uma cidade de médio porte, em relação a diagnóstico, tipo de herança e impacto local do atendimento. Métodos: Foram revisados os prontuários e formulários do serviço de genética entre 2006 e 2018. As variáveis analisadas foram idade, sexo, procedência e atual residência, motivo de referência/consultoria, profissional que encaminhou, diagnóstico final, exames complementares e seus resultados. Resultados: Foram atendidos 609 pacientes, 65,9% com idade de zero a 12 anos. Houve suspeita de síndromes genéticas em 15,1%, e 11% apresentaram atraso no desenvolvimento. Distúrbios neurogenéticos destacaram-se entre os adultos. A herança mendeliana teve maior frequência (17,8%). As solicitações de consultorias genéticas duplicaram nos últimos 5 anos, sendo 44,4% por "suspeita de síndrome genética". Conclusão: As consultorias genéticas mostraram-se ferramenta importante em nível hospitalar, reduzindo o tempo de espera até a instituição terapêutica, minimizando custos potenciais associados e norteando os familiares. O atendimento ambulatorial ofereceu diagnóstico e aconselhamento genético para usuários da cidade e região, diminuiu custos, além de propiciar um ambiente de ensino em genética médica.

The T102C polymorphism of 5HT2A receptor in oral epithelial dysplasia: A pilot case-control study.

OBJECTIVE: investigate the T102C polymorphism of 5HT2A receptor in dysplasia in oral potentially malignant lesions and its association with smoking and alcohol habits. METHODS: case-control study that included patients with oral potentially malignant lesions (OPML) histopathologically diagnosed with dysplasia and healthy controls, and within these group patients with and without smoking and alcohol consumption habits. Cell samples from the oral lesions were collected with the patients previously anesthetized using disposable cytological brushes. Deoxyribonucleic acid (DNA) extraction was performed and the T102C polymorphism (rs6313) was genotyped in a real-time polymerase chain reaction (PCR) allelic discrimination assays. RESULTS: 110 individuals were included in this study (38 with dysplasia and 72 controls). The genotype (p = 0.016), allele (p = 0.020) and smoking habits (<0.001) distribution differed significantly between dysplasia and control group, where the CT and TT (C - cytosine/ T - thymine) genotype and the T allele showed a higher frequency in dysplasia (65.6, 18.8 and 84.4 %, respectively) than in controls (55.7, 4.9 and 60.7). Concerning smoking habits, the higher frequency was in the dysplasia group. The multivariate logistic regression analysis, associating variables of interest and the presence of dysplasia, showed that individuals with smoking habits present 7.58 increase risk to develop dysplasia than non-smokers; and individuals carrying the T allele for the T102C polymorphism have a 4.6 increased risk to develop oral dysplasia in OPML. CONCLUSIONS: the T102C polymorphism is associated with oral dysplasia in OPML, however, failed to show association with smoking and alcohol habits in OPML dysplasia.

How has dental pulp stem cells isolation been conducted? A scoping review.

The objective of this study was to realize a scoping review the literature in order to identify the profile of DPSCs isolation and analyze the possible risk factors that could change the native behavior of these cells. An initial search was conducted using the following MeSH terms: "(dental pulp stem cell [MeSH])"; "(dental pulp [MeSH])" AND "(stem cell [MeSH])"; "("dental pulp stem cell" [MeSH]")". The electronic search was done without date restriction up to and including April 2014, in PubMed, Scopus, Scielo and ISI Web of Knowledge databases. Studies were submitted to inclusion and exclusion criteria and 222 articles were included. Data showed that over the past 15 years many studies have been conducted using DPSCs. However this is the first systematic review regarding the isolation of stem cell, and more specifically of dental pulp stem cells. The isolation of dental pulp stem cells showed great variability, hampering the development of standard protocols to achieve in vitro dental pulp stem cells with similar characteristics. This scoping review combined, for the first time, the methodologies used for dental pulp stem isolation, highlighting the most frequently used.

How has dental pulp stem cells isolation been conducted? A scoping review

Abstract: The objective of this study was to realize a scoping review the literature in order to identify the profile of DPSCs isolation and analyze the possible risk factors that could change the native behavior of these cells. An initial search was conducted using the following MeSH terms: "(dental pulp stem cell [MeSH])"; "(dental pulp [MeSH])" AND "(stem cell [MeSH])"; "("dental pulp stem cell" [MeSH]")". The electronic search was done without date restriction up to and including April 2014, in PubMed, Scopus, Scielo and ISI Web of Knowledge databases. Studies were submitted to inclusion and exclusion criteria and 222 articles were included. Data showed that over the past 15 years many studies have been conducted using DPSCs. However this is the first systematic review regarding the isolation of stem cell, and more specifically of dental pulp stem cells. The isolation of dental pulp stem cells showed great variability, hampering the development of standard protocols to achieve in vitro dental pulp stem cells with similar characteristics. This scoping review combined, for the first time, the methodologies used for dental pulp stem isolation, highlighting the most frequently used.