Evaluation of the dentists’ knowledge on medical urgency and emergency

This study aimed at evaluating how well dentists understand medical emergency/urgency procedures and issues during dental treatment at a hospital specialized in cleft lip and palate. It comprised a hundred dentists from the Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRAC/USP), Brazil, from different dental specialties. A questionnaire was applied to evaluate their knowledge of medical emergencies/urgencies from June through September 2011. The questionnaire was anonymous, confidential and constructed with closed questions and either yes-no or multiple-choice responses. Results showed that most professionals (87%) were trained in basic life support (BLS), but only 43% considered themselves capable of providing first aid and performing the necessary maneuvers. Most participants (94%) claimed that they knew the difference between medical urgencies and emergencies, and 69% had BLS training in their undergraduate courses, as opposed to 37%, during their specialization. Some participants (23%) mentioned that they had received knowledge of the subject during extracurricular courses and/or graduate courses (12%). Only 9% had not been educated on the subject; however, all participants showed interest in attending a course in BLS. In regard to assessing training that dentists who attended BLS courses received, 49% were satisfied and 42% were dissatisfied. Results of the present study emphasize that dentists from HRAC/USP have little knowledge about BLS procedures to perform them. Dentists must gain adequate education and training to minimize possible technical, ethical and legal problems associated with dental practice. It is necessary to improve both knowledge and practice in order to become well-qualified practitioners

Genetic study of the AMELX gene mutation on dental malformations of patients with and without cleft lip and palate.

O objetivo deste trabalho foi investigar a ocorrência de mutações na sequência de nucleotídeos do gene AMELX, candidato a defeitos na formação do esmalte dentário, em indivíduos com e sem fissura labiopalatina. Para análise do gene proposto, foi coletado saliva de 165 indivíduos, que foram divididos em 4 grupos: Grupo 1 - composto por 46 indivíduos com fissura labiopalatina e malformação dentária; Grupo 2 - composto por 34 indivíduos com fissura labiopalatina e sem malformação dentária; Grupo 3 - composto por 34 indivíduos sem fissura labiopalatina e com malformação dentária e Grupo 4 - composto por 51 indivíduos sem fissura labiopalatina e malformação dentária. Foi realizada a extração do DNA genômico das amostras de saliva, seguido da PCR e sequenciamento direto. Cada mutação identificada no sequenciamento foi confirmada repetindo-se a reação de sequenciamento da fita antisenso. Após a coleta dos dados no Software SeqScape® 2.6, estes foram devidamente analisados por meio de gráficos e tabelas. Das amostras submetidas ao sequenciamento genético, obteve-se um aproveitamento de 95%, 90%, 89%, 88%, 94% e 100% destas amostras dos éxons 2, 3, 4, 5, 6 e 7, respectivamente. Dos 990 fragmentos sequenciados (seis éxons em 165 amostras de saliva), 918 fragmentos (93%) foram analisados. Detectou-se alteração na sequência de bases em 37 destes fragmentos (4%), sendo 14 no Grupo 1 (1,5%), 12 no Grupo 2 (1,3%), quatro no Grupo 3 (0,4%) e sete no Grupo 4 (0,7%), dos tipos missense e silenciosa, distribuídas nos éxons 2, 6 e 7 do gene AMELX, em oito distintos locais no cromossomo X. De acordo com os resultados obtidos do sequenciamento direto do gene AMELX, foi possível concluir que foram encontradas mutações na sequência de nucleotídeos do gene AMELX, em indivíduos com e sem fissura labiopalatina e malformação dentária. Observou-se ainda que a mutação localizada na posição 75 do éxon 6 esteve presente em todos os grupos estudados, sugerindo que, apesar de ser uma mutação silenciosa, pode ser um polimorfismo novo, a ser catalogado, pois foi detectado em 26 indivíduos, do total de 165, representando 16%. Entretanto, este estudo não pode afirmar que estas mutações alteraram diretamente o fenótipo dos pacientes dos grupos estudados.The aim of this study was to investigate the occurrence of mutations in the AMELX candidate gene involved in enamel formation, in patients with and without cleft lip and palate and dental malformation. For gene analysis proposed was collected saliva from 165 patients who were divided in 4 groups: Group 1 - 46 individuals with cleft lip and palate and dental malformation, Group 2 - 34 individuals with cleft lip and palate without dental malformations; Group 3 - 34 individuals without cleft lip and palate with dental malformations and Group 4 - 51 individuals without cleft lip and palate and dental malformation. Next, genomic DNA was extracted from this saliva, followed by PCR and direct DNA sequencing. All samples with mutations were sequenced twice; once using the forward primer and a second time using the reverse primer. After data analysis with Software SeqScape® 2.6, the data were collated. Of the 165 samples, 95%, 90%, 89%, 88%, 94% and 100% of the samples were successfully sequenced from exons 2, 3, 4, 5, 6 and 7 respectively. Overall, of the 990 total sequenced exons (six exons in 165 samples of saliva), 918 exons (93%) were able to be completely sequenced and analyzed. Mutations were detected in 37 of the fragments (4%), more specifically, 14 in Group 1 (1.5%), 12 in Group 2 (1.3%), four in Group 3 (0.4%) and seven in Group 4 (0.7%), which included only missense and silent mutations, distributed throughout exons 2, 6 and 7 in the AMELX gene in eight different locations on chromosome X. According to the results obtained from direct sequencing of protein-coding exons of the AMELX gene, mutations were found in the nucleotide sequence of the AMELX gene in individuals with and without cleft lip and palate and dental malformation. It was also observed that the mutation in position 75 of exon 6 was present in all groups, suggesting that, though a silent mutation, may be a new polymorphism to be cataloged: it was found in 26 patients, the total of 165, representing 16%. However, this study cannot confirm that these mutations directly altered the phenotypes of the patients in the groups tested

Screening of mutations and polymorphisms of candidate genes to dental malformation in patients with cleft lip and palate

O propósito deste trabalho foi investigar a ocorrência de mutações e polimorfismos em genes candidatos aos defeitos na formação do esmalte dentário em indivíduos com fissura labiopalatina (FLP) transforame incisivo unilateral ou bilateral isolada e associar o genótipo-fenótipo dos indivíduos com FLP e malformação dentária (MD) nos dentes incisivos centrais superiores permanentes. Foram coletadas amostras de saliva de 165 indivíduos de 6 a 15 anos de idade, de ambos os sexos, divididos em 4 grupos de estudo: Grupo 1 - 46 indivíduos com FLP e MD; Grupo 2 - 34 indivíduos com FLP e sem MD; Grupo 3 - 34 indivíduos sem FLP e com MD; Grupo 4 - 51 indivíduos sem FLP e MD. Foi realizada a extração do DNA genômico das amostras de saliva, seguida da Reação em Cadeia da Polimerase, sequenciamento direto dos éxons 2, 3, 4, 5, 6 e 7 do gene AMELX e genotipagem dos SNPs rs3796703, rs3796704, rs3796705, rs7671281, rs2609428 e rs35951442 no gene ENAM. Para a análise estatística dos resultados foi utilizado o Teste Exato de Fisher e o Teste do Qui-quadrado de Pearson. Em relação ao sequenciamento direto do gene AMELX, mutações foram encontradas em 30,4% (n=14), 35,3% (n=12), 11,8% (n=4) e 13,7% (n=7) dos indivíduos dos Grupos 1, 2, 3 e 4, respectivamente. Trinta e sete mutações foram detectadas e distribuídas ao longo dos éxons 2 (1 mutação - 2,7%), 6 (30 mutações - 81,08%) e 7 (6 mutações - 16,22%) do gene AMELX. Houve um aumento significativo (p=0,003) na frequência de mutações nos indivíduos com FLP (Grupos 1 e 2 - 65,7%) em relação aos indivíduos sem FLP (Grupos 3 e 4 - 25,5%). Em relação às 30 mutações encontradas no éxon 6, 43,34% (n=13), 23,33% (n=7), 13,33% (n=4) e 20% (n=6) foram encontrados nos Grupos 1, 2, 3 e 4, respectivamente. A mutação silenciosa c.261C>T (rs2106416) foi detectada em 26 indivíduos distribuídos nos quatro grupos estudados, sendo significativamente mais encontrada (p=0,003) nos grupos com FLP (23,75%), em comparação com os grupos sem FLP (8,23%). Nos grupos sem MD (Grupos 2 e 4), tal polimorfismo também foi encontrado de forma mais significativa (p=0,032) entre os indivíduos com FLP (Grupo 2 - 17,65%), quando comparados com aqueles sem FLP (Grupo 4 - 7,8%). Em relação à genotipagem dos SNPs no gene ENAM, a prevalência de heterozigotos no SNP rs2609428 foi maior (p=0,006) em indivíduos sem FLP com MD (Grupo 3 - 19,2%) em comparação com indivíduos com FLP e MD (Grupo 1 - 0%), assim como a prevalência dos heterozigotos/homozigotos mutados em indivíduos sem FLP (10%) foi maior (p=0,028) que em indivíduos com FLP (1,3%). Não foram encontradas diferenças estatisticamente significativas nos demais SNPs analisados no gene ENAM. Com base nos resultados obtidos, sugere-se que o gene AMELX pode ser considerado um gene candidato para a FLP. O SNP rs2106416 no gene AMELX pode ser considerado um marcador para a FLP e o SNP rs2609428 no gene ENAM pode estar associado à MD na ausência da FLP.The purpose of this study was to investigate the occurrence of mutations and polymorphisms (SNPs) in candidate genes to defects in the formation of enamel in individuals with cleft lip and palate (CLP) unilateral or bilateral incisive transforame isolated and associate genotype-phenotype of individuals with CLP and dental malformation (DM) in permanent teeth maxillary central incisors. For analysis of the proposed genes, saliva samples from 165 individuals from 6 to 15 years old, of both genders, were collected and divided into 4 groups: Group 1 - 46 individuals with CLP and DM; Group 2 - 34 individuals with CLP and without DM; Group 3 - 34 subjects without CLP and DM; Group 4 - 51 subjects without CLP and DM. Extraction of genomic DNA from saliva samples was performed, followed by Polymerase Chain Reaction, direct sequencing of 2, 3, 4, 5, 6 and 7 exons of AMELX gene and genotyping of SNPs rs3796703, rs3796704, rs3796705, rs7671281, rs2609428 and rs35951442 in the ENAM gene. For statistical analysis we used the Fisher\'s exact test and Pearson\'s chi-square test. Regarding direct sequencing of AMELX gene, mutations were found in 30.4% (n=14), 35.3% (n=12), 11.8% (n=4) and 13.7% (n=7) of individuals in Groups 1, 2, 3 and 4, respectively. Thirty-seven mutations were detected and distributed over the exons 2 (1 mutation - 2.7%), 6 (30 mutations - 81.08%) and 7 (6 mutations - 16.22%) of AMELX gene. There was a significant increase (p=0.003) in the frequency of mutations in individuals with CLP (Groups 1 and 2 - 65.7%) compared to subjects without CLP (Groups 3 and 4 - 25.5%). Regarding the 30 mutations found in exon 6, 43.34% (n=13), 23.33% (n=7), 13.33% (n=4) and 20% (n=6) were found in Groups 1, 2, 3 and 4, respectively. The c.261C>T silent mutation (rs2106416) was detected in 26 individuals distributed in all groups studied, and was significantly more found (p=0.003) in the groups with CLP (23.75%) compared to the groups without CLP (8.23%). In groups without DM (Groups 2 and 4), this polymorphism was also significantly more found (p=0.032) among individuals with CLP (Group 2 - 17.65%) compared to those without CLP (Group 4 - 7.8%). Regarding the SNPs genotyping in ENAM gene, the prevalence of heterozygous in SNP rs2609428 was higher (p=0.006) in individuals without CLP with DM (Group 3 - 19.2%) than in individuals with CLP and DM (Group 1 - 0%), as well as the prevalence of the heterozygous/homozygous mutated in individuals without CLP (10%) was higher (p=0.028) than in individuals with CLP (1.3%). No statistically significant difference was found in the other SNPs analysed in the ENAM gene. Based on the obtained results, it is suggested that the AMELX gene may be considered a candidate gene for the CLP. The SNP rs2106416 in AMELX gene may be considered a marker for CLP and the SNP rs2609428 in ENAM gene may be associated with DM in the absence of CLP

Global economic burden of unmet surgical need for appendicitis

Background There is a substantial gap in provision of adequate surgical care in many low- and middle-income countries. This study aimed to identify the economic burden of unmet surgical need for the common condition of appendicitis. Methods Data on the incidence of appendicitis from 170 countries and two different approaches were used to estimate numbers of patients who do not receive surgery: as a fixed proportion of the total unmet surgical need per country (approach 1); and based on country income status (approach 2). Indirect costs with current levels of access and local quality, and those if quality were at the standards of high-income countries, were estimated. A human capital approach was applied, focusing on the economic burden resulting from premature death and absenteeism. Results Excess mortality was 4185 per 100 000 cases of appendicitis using approach 1 and 3448 per 100 000 using approach 2. The economic burden of continuing current levels of access and local quality was US $92 492 million using approach 1 and$73 141 million using approach 2. The economic burden of not providing surgical care to the standards of high-income countries was $95 004 million using approach 1 and$75 666 million using approach 2. The largest share of these costs resulted from premature death (97.7 per cent) and lack of access (97.0 per cent) in contrast to lack of quality. Conclusion For a comparatively non-complex emergency condition such as appendicitis, increasing access to care should be prioritized. Although improving quality of care should not be neglected, increasing provision of care at current standards could reduce societal costs substantially

Global economic burden of unmet surgical need for appendicitis

Background There is a substantial gap in provision of adequate surgical care in many low- and middle-income countries. This study aimed to identify the economic burden of unmet surgical need for the common condition of appendicitis. Methods Data on the incidence of appendicitis from 170 countries and two different approaches were used to estimate numbers of patients who do not receive surgery: as a fixed proportion of the total unmet surgical need per country (approach 1); and based on country income status (approach 2). Indirect costs with current levels of access and local quality, and those if quality were at the standards of high-income countries, were estimated. A human capital approach was applied, focusing on the economic burden resulting from premature death and absenteeism. Results Excess mortality was 4185 per 100 000 cases of appendicitis using approach 1 and 3448 per 100 000 using approach 2. The economic burden of continuing current levels of access and local quality was US $92 492 million using approach 1 and$73 141 million using approach 2. The economic burden of not providing surgical care to the standards of high-income countries was $95 004 million using approach 1 and$75 666 million using approach 2. The largest share of these costs resulted from premature death (97.7 per cent) and lack of access (97.0 per cent) in contrast to lack of quality. Conclusion For a comparatively non-complex emergency condition such as appendicitis, increasing access to care should be prioritized. Although improving quality of care should not be neglected, increasing provision of care at current standards could reduce societal costs substantially