How to structure an oncogenetics service for the public health system: Report of the implementation of the first service in Northeastern Brazil.

INTRODUCTION: Identifying carriers of genetic mutations that increase the risk of developing cancer allows to adopt timely risk-reducing strategies. However, due to the elevated cost of genetic testing, few oncogenetics services are available in the Brazilian public health care system, especially in economically disadvantaged areas. OBJECTIVE: To describe the implementation of an oncogenetics service for patients suspected of hereditary cancer syndromes (HBOC and HNPCC) at a philanthropic referral oncology hospital in Northeastern Brazil, funded by the Ministry of Health's National Oncology Care Support Program (PRONON). METHODS: The service was implemented with the PDCA method (Plan, Do, Check and Act). RESULTS: During the first year of operation (starting in August 2018), 675 individuals were examined, of whom 272 patients and 98 family members were submitted to genetic testing. This included the collection of 338 DNA samples of which 300 were sequenced. The analysis identified 48 (17.1%) mutations for HBOC and 19 (6.8%) for HNPCC. CONCLUSION: In one year, the oncogenetics service was able to benefit over 300 families by generating advanced molecular data which may be used for tailoring cancer prevention and management.

Pain and anxiety in office histeroscopy.

BACKGROUND: Anxiety is almost always present before medical interventions and may play a role in pain perception. We aim to evaluate factors associated with pain intensity reported by patients submitted to Office Hysteroscopy (OH). METHODS: Cross-sectional observational study, with data from April to November 2015. It included patients attended at the Assis Chateaubriand Maternity School (MEAC/UFC) with an indication of office hysteroscopy. Before the examination, the patients answered a validated questionnaire about anxiety (STAI). After the examination, women answered the Visual Analogue Scale (VAS). The data were analyzed using the Statistical Package for the Social Sciences (SPSS) 15.0, with Spearman correlation, Mann-Whitney U-test, and analyses of variance. RESULTS: 252 patients were included, with a mean age of 45.7 years, of whom 29% were postmenopausal (mean pain 5.5) and 71% were in menacme (mean pain 5.1) (p = 0.258). The anxiety trait and state showed a significant influence on the pain scale (p <0.001 and p=0.001), but age or endometrial sample did not. 27% of the patients were nulliparous. Less pain was associated with the number (p=0.01) and vaginal (p=0.005) of deliveries. The main indication for the procedure was abnormal uterine bleeding (54.4%). CONCLUSION: OH may be associated with moderate but tolerable discomfort. There was a significant correlation between higher scores on the pain scale and anxiety. There was evidence of reduced pain with parity and type of delivery, but not with reproductive age or endometrial biopsy.

Disorder of Sex Development: A Case of Late-Diagnosed Ovotestis and Its Postsurgical Follow-up.

BACKGROUND: True hermaphroditism is characterized by the presence of both testicular and ovarian tissue. This case report aimed to describe a case of ovotestis in adolescents. CASE: A 17-year-old patient presented with undifferentiated genitalia. Thelarche occurred at age 14, menarche occurred at age 15, and menstruation was regular. Physical examination showed female phenotype, Tanner IV breasts, gynecoid hair, enlarged clitoris, and labia majora symphysis with a single orifice. The patient presented high levels of total testosterone. The left gonad contained typical ovarian tissue and the right gonad contained both seminiferous tubules and ovarian tissue (ovotestis). Vaginoscopy revealed a single orifice (urethra and vagina). Right gonadectomy confirmed the presence of ovotestis. SUMMARY AND CONCLUSION: Knowledge of true hermaphroditism is important for early diagnosis and proper management.

Pain and anxiety in office histeroscopy

SUMMARY BACKGROUND: Anxiety is almost always present before medical interventions and may play a role in pain perception. We aim to evaluate factors associated with pain intensity reported by patients submitted to Office Hysteroscopy (OH). METHODS: Cross-sectional observational study, with data from April to November 2015. It included patients attended at the Assis Chateaubriand Maternity School (MEAC/UFC) with an indication of office hysteroscopy. Before the examination, the patients answered a validated questionnaire about anxiety (STAI). After the examination, women answered the Visual Analogue Scale (VAS). The data were analyzed using the Statistical Package for the Social Sciences (SPSS) 15.0, with Spearman correlation, Mann-Whitney U-test, and analyses of variance. RESULTS: 252 patients were included, with a mean age of 45.7 years, of whom 29% were postmenopausal (mean pain 5.5) and 71% were in menacme (mean pain 5.1) (p = 0.258). The anxiety trait and state showed a significant influence on the pain scale (p <0.001 and p=0.001), but age or endometrial sample did not. 27% of the patients were nulliparous. Less pain was associated with the number (p=0.01) and vaginal (p=0.005) of deliveries. The main indication for the procedure was abnormal uterine bleeding (54.4%). CONCLUSION: OH may be associated with moderate but tolerable discomfort. There was a significant correlation between higher scores on the pain scale and anxiety. There was evidence of reduced pain with parity and type of delivery, but not with reproductive age or endometrial biopsy.

RESUMO INTRODUÇÃO: A ansiedade está quase sempre presente antes de intervenções médicas e pode desempenhar um papel importante na percepção da dor. Buscou-se avaliar os fatores associados à intensidade da dor relatados pelos pacientes submetidos a histeroscopia ambulatorial (HA). MÉTODOS: Estudo observacional transversal, com dados de abril a novembro de 2015. Foram incluídas pacientes atendidas na Maternidade Escola Assis Chateaubriand (Meac/UFC) com indicação de HA. Antes do exame, as pacientes responderam a um questionário validado sobre ansiedade (IAM). Após o exame, as mulheres responderam à Escala Visual Analógica (EVA). Os dados foram analisados no Statistical Package for the Social Sciences (SPSS) 15.0, com correlação de Spearman, teste U de Mann-Whitney e Anova. RESULTADOS: Foram incluídas 252 pacientes, com idade média de 45,7 anos, das quais 29% estavam na pós-menopausa (dor média 5,5) e 71% eram menacme (dor média 5,1) (p = 0,258). O traço e o estado de ansiedade mostraram influência significativa na escala de dor (p<0,001 e p=0,001). Vinte e sete por cento das pacientes eram nulíparas. Menor dor foi associada ao número (p=0,01) e tipo vaginal (p=0,005) de partos. A principal indicação para o procedimento foi sangramento uterino anormal (54,4%); 66,1% necessitaram de amostra endometrial. CONCLUSÕES: A HA pode estar associada a um desconforto moderado, mas tolerável. Houve correlação significativa entre escores mais altos na escala de dor e ansiedade, menor paridade, mas não com idade reprodutiva ou procedimento de biópsia endometrial.