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1.
Rev. bras. ginecol. obstet ; 46: e, 2024. tab, graf
Article Dans Anglais | LILACS-Express | LILACS | ID: biblio-1559580

Résumé

Abstract Objective: To analyze the amount of muscle and the presence of sarcopenia in postmenopausal women using different methods, verifying the agreement between them as to skeletal muscle mass (SMM). Methods: This cross-sectional observational study was conducted with postmenopausal women aged ≥ 50 years. SMM was obtained from a predictive equation, Bioelectrical Impedance (BIA), and Dual Energy X-Ray Absorptiometry (DXA). The skeletal muscle mass index (SMI) and the appendicular skeletal muscle mass index (ASMI) were calculated. The cut-off point of SMI was determined for the population itself. The agreement between the SMI obtained using the different methods was verified. Sarcopenia was diagnosed according to the criteria proposed by the European Working Group on Sarcopenia in Older People 2 (EWGSOP2). The significance level adopted for all tests was 5.0%. Results: A total of 112 women were evaluated, with an average age of 66.1 ± 5.65 years. Among them, 51.8% were sufficiently active and 43.8% were overweight and obese. The SMI cut-offs were 6.46 kg/m2 for the predictive equation and 7.66 kg/m2 for BIA, with high sensitivity and specificity. There was an excellent agreement in the identification of SMM by the predictive equation (0.89 [0.824-0.917], p < 0.001) and BIA (0.92 [0.883-0.945], p < 0.001), in reference to DXA. The prevalence of sarcopenia was 0.9%, 1.8%, and 2.7% according to BIA, DXA, and the predictive equation, respectively. Conclusion: The predictive equation showed the expected agreement in estimating skeletal muscle mass in postmenopausal women, offering a viable and accurate alternative.

2.
J. coloproctol. (Rio J., Impr.) ; 43(3): 208-214, July-sept. 2023. tab, graf
Article Dans Anglais | LILACS | ID: biblio-1521142

Résumé

Objectives: To evaluate the complete response (CR) rate and surgeries performed in patients with rectal adenocarcinoma who underwent neoadjuvant therapy (NT) at Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo and at Hospital São Paulo, in Ribeirão Preto, from January 2007 to December 2017. Methods: We evaluated 166 medical records of patients with locally advanced rectal adenocarcinoma (T3, T4 or N+) who underwent NT. The regimen consisted of performing conventional (2D) or conformational (three-dimensional-3D/ radiotherapy with modulated intensity - IMRT) at a dose of 45-50.4Gy associated with capecitabine 1650mg/m2 or 5-fluorouracil (5FU) and leucovorin (LV). The following variables were analyzed: gender, age, pretreatment stage, radiotherapy, CR index, local and distant recurrence rates. Surgical treatment and complications were also evaluated. Results: The CR index was 28.3%. Patients treated with 3D/IMRT radiotherapy had a higher rate of CR (36.3% x 4.8%; p < 0.001), higher rates of clinical follow-up (21% x 0%; p < 0.001), lower surgery rates (79% x 100%; p < 0.001), higher rates of transanal resection (37.1% x 9.5%; p = 0.001), lower rates of abdominal rectosigmoidectomy (25.8% x 50%; p = 0.007) and lower rates of abdominoperineal resection of the rectum (16.1% x 40.5%; p = 0.002), when compared to patients treated with 2D radiotherapy. Conclusion Modern radiotherapy techniques such as 3D conformal and IMRT, by offering greater adequacy and precision of treatment, could result in better local control and less toxicity in organs at risk, enabling organ preservation strategies and less invasive approaches in selected cases. (AU)


Sujets)
Humains , Mâle , Femelle , Tumeurs du rectum/thérapie , Traitement néoadjuvant , Études rétrospectives , Résultat thérapeutique , Stadification tumorale
3.
Article Dans Anglais, Portugais | LILACS-Express | LILACS | ID: biblio-1436696

Résumé

Introduction: Psychiatric disorders have become a global problem that leads millions of people to use psychotropic medications, especially benzodiazepines. The effects of these substances are widely known regarding tolerance and chemical dependence, however, from epigenetics perspective, there are still little known.Objective: To evaluate the association between psychotropic drug use, NR3C1 gene methylation and its relation with symptoms suggestive of depression in adult individuals assisted in the public health system.Methods: 385 adult volunteers (20-59 years) users of the Brazilian Unified Health System were recruited to evaluate socioeconomic, health, lifestyle conditions in a cross sectional study. BDI-II evaluated symptoms suggestive of depression and pyrosequencing evaluated NR3C1 DNA methylation. Bivariate and multivariate Poisson regression model with robust variance (p < 0.05) evaluated the association between psychotropic drug use and NR3C1 gene methylation.Results: Specific depressive symptoms such as irritability, insomnia and fatigability were associated with psychotropic drug use. Symptoms of past failure, indecision and loss of appetite were associated with hypermethylation patterns in CpGs 40 to 47 of NR3C1 gene. Moreover, psychotropic drug use is associated with 50% reduction in NR3C1 gene methylation, through model adjusted with socioeconomic, health and lifestyle confounding variables.Conclusions: Psychotropic drug use and depressive symptoms was associated with changes in NR3C1 DNA methylation. In this context, epigenetic modification resulting from psychotropic drug use and depressive symptoms could be considered, mainly in population studies with epigenetic evaluation, where these factors may be influencing the findings of future studies.


Introdução: os distúrbios psiquiátricos tornaram-se um problema global que leva milhões de pessoas ao uso de medicamentos psicotrópicos. Os efeitos dessas substâncias são amplamente conhecidos quanto à tolerância e dependência química, porém, do ponto de vista epigenético, ainda são pouco conhecidos.Objetivos: avaliar a associação entre o uso de drogas psicotrópicas, metilação do gene NR3C1 e sua relação com sintomas sugestivos de depressão em indivíduos entre 20 a 59 anos usuários da rede pública de saúde.Método: 385 voluntários de 20-59 anos, usuários do Sistema Único de Saúde brasileiro foram recrutados para avaliação das condições socioeconômicas, de saúde e de estilo de vida em estudo transversal. O BDI-II avaliou sintomas sugestivos de depressão e o pirosequenciamento avaliou a metilação do DNA de NR3C1. Modelo de regressão de Poisson bivariado e multivariado com variância robusta (p < 0,05) avaliou a associação entre o uso de drogas psicotrópicas e metilação do gene NR3C1.Resultados: sintomas depressivos específicos como irritabilidade, insônia e fadiga foram associados ao uso de medicamentos psicotrópicos. Sintomas de fracasso passado, indecisão e perda de apetite foram associados a padrões de hipermetilação nos CpGs 40 a 47 do gene NR3C1. Além disso, o uso de psicofármacos está associado à redução de 50% na metilação do gene NR3C1, por meio de modelo ajustado com variáveis de confusão socioeconômicas, de saúde e estilo de vida.Conclusão: o uso de drogas psicotrópicas e sintomas específicos depressivos foram associados a alterações na metilação do DNA de NR3C1.

4.
Rev. Col. Bras. Cir ; 50: e20233404, 2023. tab
Article Dans Anglais | LILACS-Express | LILACS | ID: biblio-1440935

Résumé

ABSTRACT Introduction: with the improvement and wide acceptance of laparoscopy in colorectal operations, there was a need for specific training of surgeons in training. There are few studies evaluating the postoperative results of laparoscopic colectomies performed by resident physicians and their impact on patient safety. Purpose: to analyze the surgical and oncological results of laparoscopic colectomies performed by coloproctology residents and compare them with data in the literature. Methods: this is a retrospective analysis of patients undergoing laparoscopic colorectal surgery performed by resident physicians at the Hospital das Clínicas de Ribeirão Preto, between 2014 and 2018. The clinical characteristics of the patients were studied, as well as the main surgical and oncological aspects in a period of one year. Results: we analyzed 191 operations, whose main surgical indication was adenocarcinoma, most of them stage III. The mean duration of surgeries was 210±58 minutes. There was a need for a stoma in 21.5% of the patients, mainly loop colostomy. The conversion rate was 23%, with 79.5% due to technical difficulties, and the main predictors of conversion were obesity and intraoperative accidents. The median length of stay was 6 days. Preoperative anemia was associated with a higher rate of complications (11.5%) and reoperations (12%). Surgical resection margins were compromised in 8.6% of cases. The one-year recurrence rate was 3.2% and the mortality rate was 6.3%. Conclusions: videolaparoscopic colorectal surgery performed by residents showed efficacy and safety similar to data found in the literature.


RESUMO Introdução: com o aperfeiçoamento e a ampla aceitação da laparoscopia nas operações colorretais, houve necessidade de treinamento específico dos cirurgiões em formação. Existem poucos estudos avaliando os resultados pós operatórios das colectomias videolaparoscópicas realizadas por médicos residentes e seu impacto na segurança do paciente. Objetivo: analisar os resultados cirúrgicos e oncológicos das colectomias videolaparoscópicas realizadas por residentes de coloproctologia e comparar com dados da literatura. Métodos: trata-se de uma análise retrospectiva de pacientes submetidos a cirurgias colorretais laparoscópicas, realizadas por médicos residentes do Hospital das Clínicas de Ribeirão Preto, entre 2014 e 2018. Foram estudadas as características clínicas dos pacientes bem como os principais aspectos cirúrgicos e oncológicos em um período de um ano. Resultados: analisou-se 191 operações, cuja principal indicação cirúrgica foi adenocarcinoma, a maioria estadio III. A duração média das cirurgias foi 210±58 minutos. Houve necessidade de estoma em 21,5% dos pacientes, principalmente colostomia em alça. A taxa de conversão foi 23%, sendo 79,5% por dificuldades técnicas, e os principais fatores preditores de conversão foram obesidade e acidentes intra-operatórios. A mediana do tempo de internação foi 6 dias. Anemia pré operatória associou-se a uma maior taxa de complicações (11,5%) e reoperações (12%). Houve comprometimento das margens de ressecção cirúrgica em 8,6% dos casos. A taxa de recidiva em um ano foi de 3,2%, e a taxa de mortalidade, 6,3%. Conclusões: a cirurgia colorretal videolaparoscópica realizada por residentes apresentou eficácia e segurança semelhante aos dados encontrados na literatura.

5.
Article Dans Anglais, Portugais | LILACS-Express | LILACS | ID: biblio-1436149

Résumé

Introduction: hematological cancers account for 9% of all cancers and their progression and treatment directly affect quality of life (QoL).Objective: this study assessed QoL and associated factors in patients with hematological cancer according to the EORTC QLQ-C30.Methods: cross-sectional study carried out from August 2017 to June 2019. We included adults and the elderly of both sexes, with hematological cancer, undergoing oral or venous chemotherapy. Nutritional status was assessed by the Patient-Generated Subjective Global Assessment (PG-SGA) and QoL by EORTC QLQ-C30.Results: fifty-one patients aged in average 60.0 ± 15 years were evaluated. Of these, 51.0% were women, 80.4% were non-white, 37.3% had B lymphoid cell neoplasia, 60.8% had been diagnosed for ≤ 3 years, 77.1% were on chemotherapy, and 64.7% were well- nourished. The scores for global health status and functional scales were high and for symptoms and single items they were low, indicating good QoL and functionality and low symptomatology. After multivariate linear regression, the time of diagnosis ≤ 3 years was associated with functional performance (p <0.05) and malnutrition was associated with cognitive function (p <0.05) and with symptoms of fatigue, nausea and vomiting, and insomnia (p <0.05).Conclusions: quality of life and functionality considered adequate were observed. Time of diagnosis and malnutrition were the variables that were associated with physical and cognitive function and with the presence of fatigue, nausea and vomiting and insomnia, according to the EORTC QLQ-C30.


Introdução: os cânceres hematológicos são responsáveis por 9% de todos os cânceres e sua progressão e tratamento afetam diretamente a qualidade de vida (QV).Objetivo: avaliar a QV e fatores associados em pacientes com câncer hematológico de acordo com o EORTC QLQ-C30.Método: estudo transversal realizado de agosto de 2017 a junho de 2019. Foram incluídos adultos e idosos de ambos os sexos, com câncer hematológico, em quimioterapia oral ou venosa. O estado nutricional foi avaliado pela Avaliação Subjetiva Global Gerada pelo Paciente (PG-SGA) e a QV pelo EORTC QLQ-C30.Resultados: foram avaliados 51 pacientes com idade média de 60,0 ± 15 anos. Destes, 51,0% eram mulheres, 80,4% eram não brancos, 37,3% apresentavam neoplasia de células linfoides B, 60,8% tinham diagnóstico ≤ 3 anos, 77,1% estavam em quimioterapia e 64,7% estavam bem nutridos. As pontuações para o estado de saúde global e escalas funcionais foram altas e para sintomas e itens únicos foram baixas, indicando boa QV e funcionalidade e baixa sintomatologia. Após regressão linear multivariada, o tempo de diagnóstico ≤ 3 anos foi associado ao desempenho funcional (p <0,05) e a desnutrição foi associada à função cognitiva (p <0,05) e aos sintomas de fadiga, náuseas e vômitos e insônia (p <0,05).Conclusões: foi observada qualidade de vida e funcionalidade consideradas adequadas. O tempo de diagnóstico e a desnutrição foram as variáveis que se associaram com o comprometimento da função física e cognitiva e com a presença de fadiga, náuseas e vômitos e insônia, segundo o EORTC QLQ-C30.

6.
Rev. bras. ter. intensiva ; 34(3): 342-350, jul.-set. 2022. tab
Article Dans Portugais | LILACS-Express | LILACS | ID: biblio-1407752

Résumé

RESUMO Objetivo: Avaliar se a infecção grave pelo SARS-CoV-2 está mais comumente associada a sinais de disfunção do trato corticoespinhal e outros sinais, sintomas e síndromes neurológicas, em comparação com outros agentes infecciosos. Métodos: Este foi um estudo de coorte prospectivo com inclusão consecutiva de doentes admitidos a unidades de cuidados intensivos devido a síndrome do desconforto respiratório agudo infeccioso primário, com necessidade de ventilação mecânica invasiva por > 48 horas. Os doentes incluídos foram atribuídos aleatoriamente a três investigadores para a avaliação clínica, a qual incluía a pesquisa de sinais de disfunção do trato corticoespinhal. Os dados clínicos, incluindo outras complicações neurológicas e possíveis preditores, foram obtidos independentemente a partir dos registros clínicos. Resultados: Foram incluídos consecutivamente 54 doentes com síndrome do desconforto respiratório agudo, 27 devido a SARS-CoV-2 e 27 devido a outros agentes infecciosos. Os grupos eram comparáveis na maioria das características. Os doentes com COVID-19 apresentavam risco significativamente superior de complicações neurológicas (RR = 1,98; IC95% 1,23 - 3,26). Os sinais de disfunção do trato corticoespinhal tendiam a ser mais prevalentes em doentes com COVID-19 (RR = 1,62; IC95% 0,72 - 3,44). Conclusão: Este estudo foi a primeira análise comparativa visando avaliar disfunção neurológica, entre doentes com infecção SARS-CoV-2 e outros agentes infecciosos, em um contexto de unidade de cuidados intensivos. Reportamos um risco significativamente superior de disfunção neurológica em doentes com COVID-19. Como tal, sugere-se o rastreio sistemático de complicações neurológicas em doentes com COVID-19 crítico.


ABSTRACT Objective: To evaluate whether critical SARS-CoV-2 infection is more frequently associated with signs of corticospinal tract dysfunction and other neurological signs, symptoms, and syndromes, than other infectious pathogens. Methods: This was a prospective cohort study with consecutive inclusion of patients admitted to intensive care units due to primary infectious acute respiratory distress syndrome requiring invasive mechanical ventilation > 48 hours. Eligible patients were randomly assigned to three investigators for clinical evaluation, which encompassed the examination of signs of corticospinal tract dysfunction. Clinical data, including other neurological complications and possible predictors, were independently obtained from clinical records. Results: We consecutively included 54 patients with acute respiratory distress syndrome, 27 due to SARS-CoV-2 and 27 due to other infectious pathogens. The groups were comparable in most characteristics. COVID-19 patients presented a significantly higher risk of neurological complications (RR = 1.98; 95%CI 1.23 - 3.26). Signs of corticospinal tract dysfunction tended to be more prevalent in COVID-19 patients (RR = 1.62; 95%CI 0.72 - 3.44). Conclusion: Our study is the first comparative analysis between SARS-CoV-2 and other infectious pathogens, in an intensive care unit setting, assessing neurological dysfunction. We report a significantly higher risk of neurological dysfunction among COVID-19 patients. As such, we suggest systematic screening for neurological complications in severe COVID-19 patients.

7.
Rev. Soc. Bras. Med. Trop ; 55: e0606, 2022. tab
Article Dans Anglais | LILACS-Express | LILACS | ID: biblio-1376359

Résumé

ABSTRACT Background: The school community was heavily impacted by the Covid-19 pandemic, especially with the long time of school closures. This study aimed to analyze the seroprevalence of SARS-CoV-2 antibodies and possible factors associated with seropositivity for COVID-19 in teachers and other school staff, and to estimate the fraction of asymptomatic individuals by sex and age group. Methods: We conducted a serological survey of SARS-CoV-2 infections. An analytical cross-sectional study was conducted in Fortaleza, Brazil. Teachers and other staff members from pre-schools to universities of higher education to were investigated. Results: A total of 1,901 professionals participated in the study, of which 1,021 were staff and 880 were teachers. The seroprevalence of SARS-CoV-2 was 8.0% (152/1901). In the seropositive group, 48.3% were asymptomatic. There was a predominance of women (68.4%); and, 47.1% of the participants were between 31 and 45 years old. There was an increase in prevalence with increasing age. An inverse relationship was found for education level: more professionals with less education tested positive for COVID-19. The presence of an infected person living in the same household was significantly associated with positive results for COVID-19 among the professionals. Conclusions: This is the first study to report the seroprevalence of IgG against SARS-CoV-2 in Brazilian educational staff after the first wave of the disease. In this study, the seroprevalence was much lower than that in the general population. During school reopening, a small fraction of school workers showed serologically detectable signs of SARS-CoV-2 exposure.

9.
Arq. gastroenterol ; 58(3): 384-389, July-Sept. 2021. tab, graf
Article Dans Anglais | LILACS | ID: biblio-1345308

Résumé

ABSTRACT BACKGROUND: Recent studies have shown that endoscopy fellows can perform colonoscopy effectively and safely. However, little is known about the performance of surgical residents without prior knowledge of endoscopic techniques. OBJECTIVE: To assess whether quality indicators were met at an outpatient endoscopy center and whether surgical residents, without prior upper or lower endoscopy skills, could perform colonoscopy adequately. METHODS: A prospective non-randomized cohort study was undertaken. All exams were performed either by assistant physicians or by residents. Quality measures were compared between those groups. RESULTS: A total of 2720 colonoscopies were analyzed. In the resident group, we observed older patients (57.7±12.7 years vs 51.5±14.5 years, P<0.001), a higher prevalence of screening colonoscopies (52% vs 39.4%, P<0.001) and a higher prevalence of colorectal cancer (6.4% vs 1.8%, P<0.001). The cecal intubation rate was higher in the attending group (99.9% vs 89.3%; P<0.001). The polyp detection rate was 40.8%, and no differences were observed between the studied groups. The residents had a higher rate of perforation in all exams (0.4% vs 0%; P=0.02). Postpolypectomy bleeding and 7-day readmission rates were the same (0.2%). All readmissions in 7 days occurred due to low digestive bleeding, and none required intervention. CONCLUSION: Quality indicators were met at a university outpatient endoscopy center; however, medical residents achieved lower rates of cecal intubation and higher rates of perforation than the attending physicians.


RESUMO CONTEXTO: Estudos recentes mostraram que médicos em treinamento podem realizar a colonoscopia de maneira eficaz e segura. No entanto, pouco se sabe sobre a performance dos médicos residentes de cirurgia sem o conhecimento prévio das técnicas endoscópicas. OBJETIVO: Avaliar se os indicadores de qualidade foram atendidos em um centro de endoscopia ambulatorial e se os residentes de cirurgia, sem habilidades anteriores em endoscopia alta ou baixa, realizaram a colonoscopia de forma adequada. MÉTODOS: Foi realizado um estudo de coorte prospectivo não randomizado. Todos os exames foram realizados por médicos assistentes ou residentes. Os indicadores de qualidade foram comparados entre esses grupos. RESULTADOS: Um total de 2.720 colonoscopias foram analisadas. No grupo de médicos residentes, observamos pacientes mais velhos (57,7±12,7 anos vs 51,5±14,5 anos, P<0,001), maior prevalência de colonoscopias de rastreamento (52% vs 39,4%, P<0,001) e maior prevalência de câncer colorretal (6,4% vs 1,8%, P<0,001). A taxa de intubação cecal foi maior no grupo de médicos assistentes (99,9% vs 89,3%; P<0,001). A taxa de detecção de pólipos foi de 40,8% e não foram observadas diferenças entre os grupos estudados. Os médicos residentes tiveram maior índice de perfuração (0,4% vs 0%; P=0,02). O sangramento pós-polipectomia e as taxas de readmissão em 7 dias foram iguais (0,2%). Todas as readmissões em 7 dias ocorreram devido a hemorragia digestiva baixa e nenhuma intervenção foi necessária. CONCLUSÃO: Os indicadores de qualidade foram alcançados em um centro de endoscopia universitário; no entanto, os médicos residentes alcançaram taxas mais baixas de intubação cecal e taxas mais altas de perfuração do que os médicos assistentes.


Sujets)
Humains , Patients en consultation externe , Caecum , Universités , Études prospectives , Études de cohortes , Coloscopie , Compétence clinique
10.
Arq. gastroenterol ; 57(3): 272-277, July-Sept. 2020. tab, graf
Article Dans Anglais | LILACS | ID: biblio-1131673

Résumé

ABSTRACT BACKGROUND: Data regarding the prevalence of anemia in inflammatory bowel disease (IBD) patients are scarce in Brazil. Anemia and iron deficiency anemia have been known to cause significant functional impairment, lower quality of life, and higher morbidity and mortality and may be correlated with an impact on the cost of treatment. OBJECTIVE: The aim of this study was to estimate the prevalence and risk factors for anemia and iron deficiency anemia in patients with IBD in a tertiary IBD unit in Southeast Brazil. METHODS: We conducted an Institutional Review Board-approved retrospective analysis of an adult IBD cohort (IBD Unit, Ribeirão Preto Medical School, University of São Paulo, Brazil) consisting of 579 patients between January 2014 and July 2018. Clinicoepidemiological data, hemoglobin measurements and serum ferritin were extracted from electronic medical records. Anemia prevalence was calculated among ulcerative colitis (UC) and Crohn's disease (CD) phenotypes. Risk factors for anemia were also calculated. RESULTS: A total of 529 (91%) patients had complete blood counts available in their medical records. Only 35.5% of IBD patients were fully screened for anemia. The prevalence of anemia in IBD patients was 24.6% (29.1% in CD and 19.1% in UC, P=0.008). The anemia was moderate to severe in 16.9% (19.8% in CD and 11.4% in UC, P=0.34). The prevalence of iron deficiency was 52.3% (53.6% in CD and 51.2% in UC, P=0.95). Anemia of chronic disease was present in 14.1% of IBD patients. A total of 53.8% of patients with anemia were in clinical remission. CD was associated with an increased prevalence of anemia (P=0.008; OR=1.76; CI 95% =1.16-2.66) compared to UC. The penetrant disease phenotype in CD was associated with a lower risk of anemia (P<0.0001; OR=0.25; CI 95% =0.14-0.43). Active disease compared to the disease in clinical remission was associated with an increased risk of anemia (P=0.0003; OR=2.61; CI 95% =1.56-4.36) in CD. The presence of anemia was less frequent in patients with CD who underwent surgical bowel resection compared to those who did not undergo surgery (P<0.0001; OR=0.24; CI 95% =0.14-0.40). No differences in anemia prevalence were observed regarding CD localization, age at diagnosis, UC extension or biological therapy (P>0.05). CONCLUSION: Despite the low levels of full screening, anemia and iron deficiency anemia were common manifestations of IBD. CD was associated with an increased risk of anemia, especially with active disease. In addition, patients with CD who underwent surgical bowel resection and penetrant disease phenotype in CD were associated with lower risk of anemia.


RESUMO CONTEXTO: Dados referentes à prevalência de anemia em pacientes com doença inflamatória intestinal (DII) são escassos no Brasil. Sabe-se que anemia e a anemia ferropriva causam comprometimento funcional significativo, menor qualidade de vida e maior morbimortalidade e podem estar correlacionadas com um impacto no custo do tratamento. OBJETIVO: O objetivo deste estudo foi estimar a prevalência e os fatores de risco de anemia e de anemia ferropriva em pacientes com DII em um centro de referência de DII no Sudeste do Brasil. MÉTODOS: Realizamos uma análise retrospectiva dos pacientes com DII adultos, aprovada pelo Comitê de Ética Institucional do Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo, Brasil, constituída por 579 pacientes no período de janeiro de 2014 a julho de 2018. Dados clínico-epidemiológicos, níveis de hemoglobina e de ferritina sérica foram obtidos dos prontuários eletrônicos. A prevalência de anemia foi calculada entre os fenótipos de retocolite ulcerativa (RCU) e doença de Crohn (DC). Fatores de risco para anemia também foram calculados. RESULTADOS: Um total de 529 (91%) pacientes tinha disponível o exame de hemograma completo em seus prontuários médicos. Apenas 35,5% dos pacientes com DII tinha o rastreamento completo para anemia. A prevalência de anemia nos pacientes com DII foi de 24,6% (29,1% na DC e 19,1% na RCU, P=0,008). A anemia foi moderada a grave em 16,9% (19,8% na DC e 11,4% na RCU, P=0,34). A prevalência de deficiência de ferro foi de 52,3% (53,6% na DC e 51,2% na RCU, P=0,95). Anemia de doença crônica estava presente em 14,1% dos pacientes com DII. Um total de 53,8% dos pacientes com anemia estavam em remissão clínica. A DC esteve associada a um aumento da prevalência de anemia (P=0,008; OR=1,76; IC 95% =1,16-2,66) em comparação à RCU. O fenótipo da doença penetrante na DC foi associado a um menor risco de anemia (P<0,0001; OR=0,25; IC 95% =0,14-0,43). A doença ativa comparada à doença em remissão clínica foi associada a um risco aumentado de anemia (P=0,0003; OR=2,61; IC 95% =1,56-4,36) na DC. A presença de anemia foi menos frequente nos pacientes com DC submetidos à ressecção intestinal em comparação aos que não foram submetidos à cirurgia (P<0,0001; OR=0,24; IC 95% =0,14-0,40). Não foram observadas diferenças na prevalência de anemia em relação à localização da DC, idade ao diagnóstico, extensão da RCU ou terapia biológica (P>0,05). CONCLUSÃO: Apesar do baixo rastreamento completo, tanto a anemia como a anemia ferropriva foram manifestações comuns da DII. A DC foi associada a um risco aumentado de anemia, especialmente com doença ativa. Além disto, pacientes com DC submetidos a ressecção intestinal e/ou com fenótipo penetrante tiveram menor risco de anemia.


Sujets)
Humains , Maladies inflammatoires intestinales/complications , Maladies inflammatoires intestinales/épidémiologie , Anémie par carence en fer/étiologie , Anémie par carence en fer/épidémiologie , Qualité de vie , Orientation vers un spécialiste , Brésil/épidémiologie , Prévalence , Études rétrospectives , Facteurs de risque
11.
Braz. J. Psychiatry (São Paulo, 1999, Impr.) ; 42(2): 185-189, Mar.-Apr. 2020. tab
Article Dans Anglais | LILACS | ID: biblio-1089235

Résumé

Objective: The ICD-11 Trauma Questionnaire (ITQ) was developed as a joint effort by researchers from several countries to evaluate post-traumatic stress (PTSD) and complex-PTSD (C-PTSD) symptoms. This study is part of a multi-center international collaborative research project that aims to provide psychometric support for this initial instrument in different languages, considering the specific contexts related to complex traumatization. This study verified the psychometric characteristics of the Portuguese version of the ITQ, evaluating symptoms beyond those described the existing literature. Methods: We examined the results of a convenience sample totaling 268 Portuguese and Angolan participants. Two instruments were applied: the ITQ, which evaluates symptoms resulting from a traumatic life event, and the Life Events Checklist (LEC), which evaluates stressful life events. The general characteristics of the scales are described, and reliability analysis and validity studies were performed. Results: Cronbach's alpha varied between 0.84 and 0.88, and the exploratory factorial analysis results were consistent with the concept of C-PTSD, with five components explaining 61.58% of scale variance. Conclusion: The results suggest good psychometric characteristics for the Portuguese version of the ITQ, and thus it can be included in protocols intended evaluating complex traumatic symptoms.


Sujets)
Humains , Mâle , Femelle , Adolescent , Adulte , Jeune adulte , Troubles de stress post-traumatique/diagnostic , Enquêtes et questionnaires , Échelles d'évaluation en psychiatrie , Psychométrie , Classification internationale des maladies , Reproductibilité des résultats , Analyse statistique factorielle , Niveau d'instruction , Liste de contrôle , Adulte d'âge moyen
12.
Rev. saúde pública (Online) ; 53: 47, jan. 2019. tab, graf
Article Dans Anglais | LILACS | ID: biblio-1004501

Résumé

ABSTRACT OBJECTIVE To describe the sampling strategy of an epidemiological survey with the aid of satellite images, including details of the multistage probability sampling process. METHODS A probability sample of individuals living in the rural area of Rosário do Sul, state of Rio Grande do Sul, Brazil, aged 15 years old or more, was evaluated. Participants answered questionnaires (medical history, sociodemographic characteristics, habits, alcohol use, quality of life, stress, rumination, and self-perceived periodontal diseases), and were subjected to clinical oral examinations as well as anthropometric measurements (blood pressure, height, weight, abdominal and waist circumferences). Oral evaluation comprehended a complete periodontal exam at six sites per tooth, including the following assessments: furcation involvement; dental abrasion; tooth decay, including the indexing of missing and filled surfaces; O'Brien index; gingival abrasion; oral cavity and lip lesions; complete periapical radiographic exam, and use of prostheses. Besides this oral clinical approach, subgingival plaque, crevicular gingival fluid, saliva, and blood samples were collected. Examiners were trained and calibrated during previous evaluations. A pilot study allowed the logistic of the performed exams to be adjusted as needed. RESULTS Among 1,087 eligible individuals, 688 were examined (63.3%). Age, sex, and skin color data were compared to data from the last demographic census (2010) of the Brazilian Institute of Geography and Statistics, which served to validate the sampling strategy. CONCLUSIONS The careful methods used in this study, in which satellite images were used in the delimitation of epidemiological areas, ensure the quality of the estimates obtained and allow for these estimates to be used in oral health surveillance and health policies improvements.


Sujets)
Humains , Mâle , Femelle , Nourrisson , Adulte , Sujet âgé , Jeune adulte , Enquêtes de santé dentaire/méthodes , Méthodes épidémiologiques , Imagerie satellitaire/méthodes , Population rurale , Facteurs socioéconomiques , Brésil/épidémiologie , Études transversales , Enquêtes et questionnaires , Reproductibilité des résultats , Répartition par sexe , Répartition par âge , Adulte d'âge moyen
13.
Acta cir. bras ; 34(1): e20190010000009, 2019. tab, graf
Article Dans Anglais | LILACS | ID: biblio-983686

Résumé

Abstract Purpose: To evaluate the contribution of ursodeoxycholic acid (UDCA) in the first 12 months after Roux-en-Y gastric bypass in the prevention of gallstone formation. Methods: A community-based clinical trial was conducted. A total of 137 patients were included in the study; 69 were treated with UDCA, starting 30 days after the surgery, at a dose of 150 mg twice daily (300 mg/day) over a period of 5 consecutive months (GROUP A), and 68 were control patients (GROUP B). The patients were followed-up, and ultrasonography was performed to determine the presence of gallstones at various times during follow-up. Demographic, anthropometric and comorbid indicators were obtained. The data were subjected to normality tests and evaluated using appropriate tests. Results: Patients did not differ in their baseline characteristics. Of the 69 patients who used UDCA, only one patient developed cholelithiasis (1%), whereas 18 controls (26%) formed gallstones (OR = 24.4, p <0.001). Also, other factors were found not to influence the formation of calculi, such as pre-operative or postoperative hepatic steatosis or diabetes (p = 0.759, 0.468, 0.956). Conclusion: The results demonstrated that patients who did not use UDCA showed a 24.4-fold greater probability of developing cholelithiasis.


Sujets)
Humains , Mâle , Femelle , Adulte , Complications postopératoires/prévention et contrôle , Acide ursodésoxycholique/usage thérapeutique , Obésité morbide/chirurgie , Cholagogues et cholérétiques/usage thérapeutique , Dérivation gastrique/effets indésirables , Calculs biliaires/prévention et contrôle , Complications postopératoires/étiologie , Complications postopératoires/traitement médicamenteux , Période postopératoire , Estomac/chirurgie , Calculs biliaires/étiologie , Calculs biliaires/traitement médicamenteux , Comorbidité , Anthropométrie , Études prospectives
14.
Mastology (Impr.) ; 28(3): 134-155, jul.-set.2018.
Article Dans Anglais | LILACS | ID: biblio-967745

Résumé

Objective: Genetic-related breast cancer has a tendency to manifest earlier and to be more aggressive than sporadic cancer. There are few studies evaluating the prevalence and incidence of hereditary breast and ovarian cancer (HBOC) among Brazilians. In order to improve assistance, efforts to characterize the population at risk of HBOC could help to formulate locally designed guidelines. Methodology: Descriptive retrospective study in Hospital Erasto Gaertner's service of Oncogenetics, in Curitiba, state of Paraná, Brazil. We included individuals at-risk for HBOC, according to the National Comprehensive Cancer Network (NCCN) criteria, who had performed genetic tests for HBOC. We collected complete family history, presented as heredograms. We excluded families with inappropriate family history. Results: Of the 27 patients analyzed (total of 25 families), 7% were asymptomatic, 8% had ovarian cancer and 85% had breast cancer. Mutations were found in 29.6%, 6 cases of BRCA1, 1 of BRCA2 and 1 of TP53. Triple negative was the most common reported subtype, representing 60% of breast cancers; among patients with identified pathogenic variants, 2 were BRCA2 mutated and 1 TP53 mutated. The mean age of diagnosis was 40 years for those identified as probands on heredograms; in the generation above, it was 52,5, and in the below, 33, suggesting the antecipation phenomena Two new mutations were identified in Brazilian population, both in BRCA1: c.4258 G>A and c.5345 G>A. The most frequent NCCN criteria were number 2, 9, 8 and 4. Estimated penetrance was 22%. Conclusion: This is the first descriptive study in the population at-risk for HBOC in the state of Paraná. We could identify two new pathogenic variants of BRCA1 in Brazilian population. A comprehensive family history was included in the study, depicted as heredograms of each family. Despite the low number of patients, the main results are in agreement with previous studies


Objetivo: Os carcinomas de mama hereditários têm a tendência de se manifestar precocemente e serem mais agressivos do que os esporádicos. São poucos os estudos que avaliam a prevalência e a incidência da síndrome de câncer de mama e ovário hereditário (SCMOH) na população brasileira. No intuito de melhorar a assistência prestada, a análise das características encontradas na população em risco para SCMOH ajudaria a formulação de protocolos regionais para a abordagem desses pacientes. Metodologia: Estudo descritivo retrospectivo realizado no serviço de Oncogenética do Hospital Erasto Gaertner em Curitiba, Paraná. Incluímos indivíduos em risco para SCMOH pelos critérios estabelecidos pela National Comprehensive Cancer Network (NCCN) e que realizaram testes genéticos para SCMOH. Coletamos o histórico familiar completo, apresentado na forma de heredograma. Foram excluídas famílias com histórico familiar inapropriado. Resultados: Das 27 pacientes analisadas (total de 25 famílias), 7% eram assintomáticas, 8% tiveram câncer de ovário e 85%, câncer de mama. Mutações foram encontradas em 29,6%, sendo 6 casos de BRCA1, 1 de BRCA2 e 1 de TP53. Tumores triplo negativos foram os mais encontrados entre os subtipos, representando 60% dos carcinomas de mama; dentre os pacientes com variantes patogênicas, 2 eram de mutações em BRCA2 e 1 em TP53. A média de idade entre as pacientes foi de 40 anos entre probandas dos heredogramas; na geração superior, foi de 52,5 anos e na inferior, de 33, sugerindo o fenômeno de antecipação. Duas novas mutações foram descritas na população brasileira, as duas sendo em BRCA1: c.4258 G>A e c.5345 G>A. Os critérios NCCN mais encontrados foram os de número 2, 9, 8 e 4. A penetrância estimada foi de 22%. Conclusão: Este foi o primeiro estudo descritivo de uma população em risco para SCMOH no estado do Paraná. Encontramos duas novas mutações que não haviam sido descritas na população brasileira até então. Foi realizada a análise detalhada do histórico familiar das pacientes, sendo descrita e detalhada em heredogramas para cada família. Apesar do baixo número de indivíduos analisados, os resultados principais foram de acordo com o encontrado em estudos prévios

15.
Rev. bras. cancerol ; 64(4): 575-579, 2018.
Article Dans Portugais | LILACS | ID: biblio-1025129

Résumé

Introdução: O tumor desmoplásico de pequenas células redondas é uma rara neoplasia que se inicia e se espalha pela superfície peritoneal. Foi descrito pela primeira vez em 1989 e, em 1991, houve seu reconhecimento como entidade clínica e patológica distintas. Relato do caso: Homem de 34 anos apresentou quadro de dor abdominal e perda de peso, evoluindo para obstrução intestinal dois meses após. A laparotomia demonstrou grande massa abdominopélvica irressecável. O laudo anatomopatológico associado à imuno-histoquímica evidenciou diagnóstico de tumor desmoplásico de pequenas células redondas. A tomografia computadorizada confirmou derrame pleural bilateral, implantes peritoneais e massas abdominais e pélvicas. Realizou-se quimioterapia com carbo/taxol com intervalo de 21 dias. Substituiu-se o esquema para VAC/IE com intervalo de 21 dias, com resposta parcial, porém ainda se mantendo um tumor irressecável. Houve piora progressiva da performance do paciente, com evolução ao óbito por obstrução intestinal no 15º mês de seguimento. Conclusão: O tumor desmoplásico de pequenas células redondas, em razão da sua raridade, continua sendo um desafio para o diagnóstico e o tratamento.


Introduction: The desmoplastic small round cell tumor is a rare neoplasm that starts and spreads through the peritoneal surface. It was first described in 1989 and in 1991 was recognized as a distinct clinical and pathological entity. Case report: A 34-year-old man presented with abdominal pain and weight loss, progressing to an intestinal obstruction after two months. Laparotomy showed an unresectable abdominopelvic mass. Anatomopathological an immunohistochemistry analysis showed a desmoplastic small-round-cell tumor. Computerized Tomography showed bilateral pleural effusion, peritoneal implants, along with masses in the abdominal and pelvic region. Chemotherapy with carbo/taxol was administered at intervals of 21-days. Later, the chemotherapy was changed to VAC/IE at a 21-day interval, with a partial response, but it was still an unresectable tumor. There was a worsening in patient performance, and he died of an abdominal obstruction on the 15º month of follow-up. Conclusion: Due to its rarity, the desmoplastic small-round-cell tumor, is still a diagnostic and treatment challenge.


Introducción: El tumor desmoplásico de células pequeñas y redondas es una neoplasia rara que comienza y se disemina a través de la superficie peritoneal. Fue descrito por primera vez en 1989 y en 1991 fue reconocido como una entidad clínica y patológica distintas. Relato del caso: Un hombre de 34 años presentó dolor abdominal y pérdida de peso, progresando a una obstrucción intestinal después de dos meses. La laparotomía mostró una masa abdominopélvica irresecable. El análisis anatomopatológico e inmunohistoquímico mostró un tumor desmoplásico de células pequeñas y redondas. La tomografía computarizada mostró derrame pleural bilateral, implantes peritoneales y masas en la región abdominal y pélvica. Se administró quimioterapia con carbo/taxol en un intervalo de 21 días. Más tarde, la quimioterapia cambió a VAC/IE con un intervalo de 21 días, con una respuesta parcial, pero seguía siendo un tumor irresecable. Hubo un empeoramiento en el estado del paciente, y murió de una obstrucción intestinal en el 15º mes de seguimiento. Conclusión: Debido a su rareza, tumor desmoplásico de células pequeñas y redondas, sigue siendo un desafío de diagnóstico y tratamiento.


Sujets)
Humains , Mâle , Adulte , Cavité péritonéale , Tumeurs du péritoine/diagnostic , Tumeur desmoplastique à petites cellules rondes/diagnostic , Tissu conjonctif
16.
Braz. oral res. (Online) ; 32: e112, 2018. tab
Article Dans Anglais | LILACS | ID: biblio-974446

Résumé

Abstract The aim of the present study was to verify if clinical signs of gingivitis such as color changes, edema, and bleeding in the anterior region influence the OHRQoL of adolescents. We followed a cross-sectional convenience sample of 67 adolescents aged 11 to 16 years receiving dental treatment at the Federal University of Santa Maria (UFSM), in southern Brazil. The participants were evaluated for the following clinical variables: edema, gingival color alteration, and marginal bleeding of the gingival tissues, collected at 6 sites per tooth in the anterior region of the mouth. Socioeconomic variables were collected through questionnaires and OHRQoL was evaluated through the Brazilian version of the Children Perception Questionnaire (CPQ 11-14) short form. A Poisson regression model was used to verify associations between clinical variables and general CPQ11-14 scores. In the unadjusted analysis, edema, color alterations, and marginal bleeding in the anterior region were associated with worse scores of OHRQoL. Edema and marginal bleeding remained associated after adjusting for clinical and sociodemographic variables. Adolescents with higher levels of marginal bleeding and edema in the anterior region had higher mean CPQ11-14 scores. Therefore, the presence of bleeding and gingival edema in the anterior region can be considered clinical signs of gingivitis that are associated with a worse OHRQoL in adolescents.


Sujets)
Humains , Mâle , Femelle , Enfant , Adolescent , Qualité de vie , Hémorragie gingivale/épidémiologie , Gingivite/épidémiologie , Concept du soi , Brésil/épidémiologie , Loi de Poisson , Hémorragie gingivale/anatomopathologie , Hémorragie gingivale/psychologie , Santé buccodentaire , Études transversales , Enquêtes et questionnaires , Oedème/épidémiologie , Gingivite/anatomopathologie , Gingivite/psychologie
17.
Braz. oral res. (Online) ; 32: e002, 2018. tab, graf
Article Dans Anglais | LILACS | ID: biblio-889467

Résumé

Abstract: The aim of the present study was to compare negative impacts of oral conditions in Oral Heath Related Quality of Life (OHRQoL) assessed by the Oral Health Impact Profile-14 (OHIP-14) scores in pregnant women receiving or not comprehensive periodontal treatment. This randomized controlled clinical trial included pregnant women aged between 18 and 35 years old. Participants were randomized in a test group with 96 and a control group with 114 women. Patients in the test group received comprehensive periodontal treatment, supra and subgingival scaling and root-planning and periodontal maintenance appointments. The OHIP-14 was applied before and after treatment. The primary outcome was changes in OHIP-14 scores after follow-up period. The impact of having received or not comprehensive periodontal treatment on the change of the OHIP-14 scores was also investigated. Both groups showed significant reduction in OHIP-14 scores and effect size for the test group was 0.60 and 0.36 for the control group. Multinomial logistic regression analysis showed that participants of the control group had 5.9-fold odds (CI 95% 1.88-18.52) of worsening in OHIP-14 scores and their perception of oral conditions in relation to test group. Comprehensive periodontal treatment during pregnancy can reduce the negative impacts in OHRQoL.


Sujets)
Humains , Femelle , Grossesse , Adulte , Jeune adulte , Maladies parodontales/thérapie , Complications de la grossesse/thérapie , Qualité de vie , Santé buccodentaire/statistiques et données numériques , Prise en charge prénatale , Facteurs socioéconomiques , Modèles logistiques , Indice parodontal , Indice de plaque dentaire , État de santé , Enquêtes et questionnaires , Résultat thérapeutique , Profil d'impact de la maladie
18.
ABCS health sci ; 42(3): 137-142, 11 dez. 2017. tab
Article Dans Anglais | LILACS | ID: biblio-876224

Résumé

INTRODUCTION: Intestinal parasites are common in children in poor countries around the world, and are the cause of serious health problems. OBJECTIVE: To evaluate the prevalence of intestinal parasites in schoolchildren in Santarém, and associated socio-environmental risk factors. METHODS: Questionnaires were applied to parents, and fecal exams were performed by direct method and sedimentation. RESULTS: The parasites that prevailed were Entamoeba coli (20.4%) and Ascaris lumbricoides (9.0%). The family income is an important factor related to parasitic infections (χ2=21.000/p=0.001). Other factors such as water treatment (χ2=20.15/p=0.002), health infrastructure (χ2=25.40/p=0.001), and hygiene practices such as hand washing (χ2=11.54/p=0.003) were statistically significant for the presence of intestinal parasites too, some on a lesser scale. CONCLUSION: The results showed that Entamoeba coli and Ascaris lumbricoides are the prevalent parasites. The Family income, water quality, and sanitary infrastructure are the main risk factors for parasitic infections.


INTRODUÇÃO: As parasitoses intestinais são comuns em crianças em países pobres pelo mundo, e são a causa de sérios problemas de saúde. OBJETIVO: Avaliar a prevalência de parasitos intestinais em crianças de escolas em Santarém, e fatores de risco socioambientais associados. MÉTODOS: Foram aplicados questionários as famílias, e os exames de fezes foram realizados pelo método direto e sedimentação. RESULTADOS: Os parasitas que prevaleceram foram Entamoeba coli (20,4%) e Ascaris lumbricoides (9,0%). A renda familiar é um fator importante relacionado às infecções parasitárias (χ2=21.000/p=0.001). Outros fatores como o tratamento da água (χ2=20.15/p=0.002), infraestrutura de saúde (χ2=25.40/p=0.001), e práticas de higiene como lavagem das mãos (χ2=11.54/p=0.003) foram também estatisticamente significativos para a presença de parasitas intestinais, alguns em menor escala. CONCLUSÃO: Os resultados mostraram que Entamoeba coli e Ascaris lumbricoides são os parasitos prevalentes. A renda familiar, qualidade da água, e infra-estrutura sanitária são os principais fatores de risco para infecções parasitárias.


Sujets)
Humains , Mâle , Femelle , Enfant d'âge préscolaire , Enfant , Établissements scolaires , Santé de l'enfant , Prévalence , Facteurs de risque , Parasitoses intestinales/épidémiologie , Protozooses , Helminthiase
19.
ImplantNewsPerio ; 2(6): 1050-1059, nov.-dez. 2017. ilus, tab
Article Dans Portugais | LILACS, BBO | ID: biblio-880834

Résumé

Objetivo: analisar a composição química da superfície de três implantes antes e depois de manter contato com pinça de titânio, e verificar se níveis importantes de elementos químicos contaminantes foram adsorvidos aos implantes. Material e métodos: através de MEV (microscópio eletrônico de varredura) e EDS (espectrometria de energia dispersiva), as superfícies dos implantes foram caracterizadas quimicamente antes e após o contato com pinça de titânio utilizada rotineiramente em uma clínica odontológica. Resultados: houve presença de titânio com 99,51% de média nas superfícies antes do contato com pinça de titânio, e 99,43% de média de titânio após o contato com pinça de titânio. Elementos como ferro, silício, cloro e alumínio foram encontrados em concentrações menores do que 0,55%, tanto antes quanto depois da manipulação com a pinça. Conclusão: não houve contaminação química detectável pela metodologia empregada neste estudo da superfície dos implantes após o contato com a pinça de titânio, porém, uma amostra mais significativa e o emprego de critérios que possam definir com mais precisão as áreas de análise parecem ser necessários para resultados ainda mais consistentes.


Objective: to analyze the chemical composition surface of three implants before and after titanium tweezers contact and check whether important levels of contaminants chemical elements were adsorbed to the implants. Material and methods: through SEM (scanning electron microscope) and EDS (energy dispersive spectroscopy) the implants surfaces were characterized chemically before and after contact with titanium tweezers frequently used in dental clinic. Results: the surfaces before contact with the titanium tweezers showed the presence of titanium 99.51% average and 99.43% average of titanium after contact with the titanium clamp. Elements such as iron, silicon, chlorine and aluminum have been found in lower concentrations than 0.55%, both before and after handling with forceps. Conclusion: therefore, no chemical contamination was detected by the method used in this study of the implant surface after contact with titanium tweezers, however, a more signifi cant sample and the use of criteria that can defi ne more precisely the areas of analysis, appear to be required for further consistent results.


Sujets)
Humains , Mâle , Femelle , Phénomènes chimiques/méthodes , Techniques de chimie analytique , Pollution de l'environnement/analyse , Pose d'implant dentaire , Titane/analyse
20.
Mastology (Impr.) ; 27(4): 271-275, oct.-dez.2017.
Article Dans Anglais | LILACS | ID: biblio-884262

Résumé

Objective: To identify genetic mutations in BRCA1 and BRCA2 genes in women suspected of HBOC syndrome and to correlate them with NCCN testing criteria to verify its impact on mutation finding rates, as well as to identify the relevant criteria, the frequency and type of found mutations and the relative importance of each NCCN criteria. Methodology: A database with all the cases tested for HBOC by the second author from 2010 to 2016 was built, and the variables of interest were annotated and then analyzed with a statistical package to find the relevant variables. Results: A total of 171 patients was tested and 38 had deleterious mutations (22%). Criteria with significant association to the present mutations were the total numbers of relatives with cancer (p=0.02) and Ashkenazi lineage (p=0.001). Age of the youngest relative with cancer below 49 was not significant in this sample (p=0.1). There is a strong correlation between mutated patients and NCCN criteria (p=0.0001), but we found no such correlation between the presence of NCCN testing criteria and the presence of mutation (p=0.11). Regarding the use of NCCN criteria to find BRCA mutations, sensitivity was 0.947, specificity was 0.068, PPV was 0.225 and NPP was 0.818. Accuracy was 0.263. Conclusion: The incidence of BRCA1 and BRCA2 deleterious mutations in our study was similar to that found in other populations. NCCN criteria were a poor predictor of deleterious mutation in BRCA1 and BRCA2 in general, although most mutant patients had at least one NCCN testing criteria, specially increasing number of affected relatives and Ashkenazi lineage.


Objetivo: Identificar as mutações genéticas nos genes BRCA1 e BRCA2 em mulheres com suspeita de Síndrome de Câncer de Mama e Ovário Hereditários e correlacioná-las com os critérios de testagem da National Comprehensive Cancer Network (NCCN), a fim de verificar o seu impacto nas taxas de achados de mutação, bem como identificar os critérios relevantes, a frequência e o tipo de mutações encontradas e a importância relativa de cada critério da NCCN. Metodologia: Desenvolveu-se uma base de dados com todos os casos testados para a Síndrome de Câncer de Mama e Ovário Hereditários pelo segundo autor de 2010 a 2016. As variáveis de interesse foram anotadas e, em seguida, analisadas por meio de um pacote estatístico para encontrar variáveis relevantes. Resultados: Um total de 171 pacientes foi testado e 38 apresentavam mutações prejudiciais (22%). Os critérios com uma associação significativa às mutações presentes foram os números totais de parentes com câncer (p=0,02) e a descendência Ashkenazi (p=0,001). A idade do parente mais jovem com câncer abaixo de 49 anos não foi significativa nesta amostra (p=0,1). Houve uma forte correlação entre pacientes com mutações e os critérios da NCCN (p=0,0001), mas não encontramos tal correlação entre a presença de testes de NCCN e a presença de mutação (p=0,11). Com relação ao uso dos critérios da NCCN para encontrar mutações BRCA, a sensibilidade foi de 0,947, a especificidade foi de 0,068, PPV foi de 0,225 e NPP foi de 0,818. A acurácia foi de 0,263. Conclusão: A incidência de mutações prejudiciais de BRCA1 e BRCA2 em nosso estudo foi semelhante àquela encontrada em outras populações. Os critérios da NCCN foram preditores fracos de mutação prejudicial no BRCA1 e no BRCA2 no geral, embora a maioria dos pacientes mutantes tenha tido, no mínimo, um critério de teste da NCCN, especialmente aumentando o número de parentes afetados e a descendência Ashkenazi.

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