"Nem tão doentes, nem tão livres de doença": narrativas de mulheres com câncer de mama sobre a investigação da herança genética em um instituto oncológico de pesquisa / "Ni tan enfermas, ni tan libres de la enfermidad": relatos de mujeres con cáncer de mama sobre la investigación de la herencia genética en un instituto de investigación oncológica / "Not so sick, not so disease-free": narratives of women with breast cancer about the investigation of genetic inheritance in an oncological research institute

A tese versa sobre a susceptibilidade hereditária para o câncer de mama sob um olhar socioantropológico. O tema apresenta relevância em função da atual valorização da genética na área da oncologia e dos impactos que esse campo da medicina produz na vida das pessoas e famílias envolvidas. A partir de uma produção etnográfica, buscou-se compreender como a prática do aconselhamento genético interfere em diversos planos da vida de mulheres com câncer de mama hereditário, como o psicoafetivo, social e familiar, atendidas por um instituto oncológico de pesquisa, pertencente ao setor privado de saúde. Para investigação metodológica, utilizou-se um conjunto de dados empíricos: entrevistas semiestruturadas com mulheres com (suspeita de) câncer de mama hereditário, observação de consultas com o serviço de genética e documentos online relativos à hereditariedade da doença na mama. Como resultados, constatou-se de que modos às percepções biomédicas acerca da noção de risco atravessaram a produção de subjetividades, identidades e coletividades das interlocutoras. Outros pontos explorados nas narrativas foram: as repercussões, individuais e coletivas, ocasionadas pela experiência do aconselhamento genético e o entrelaçamento da doença e da hereditariedade a outras vivências de cunho individual. O estudo visou contribuir a dar visibilidade às experiências e as demandas das mulheres investigadas e somar aos estudos risco, biotecnologias e subjetividades.AU

This thesis is about hereditary susceptibility to breast cancer from a socio-anthropological perspective. The theme is relevant due to the current appreciation of the genetics field in the oncological area and the impact on the lives of people and families involved. From an ethnographical starting point, how genetic counselling interferes with the life planning of women with hereditary breast cancer breast in areas such as psycho-affective, social and familiar. The search was conducted in an oncological research institute that belongs to the private healthcare system. For the methodological research, it was used a set of empirical data: semi-structured interviews with (suspected) hereditary breast cancer; participant observation of genetic consultations and online documents related to the heredity of the disease in the breast. As result, it has been noticed how the biomedical perceptions about the notion of risk cross through to the interlocutors' subjective productions, identities and sense of collective. Another aspect of the narratives is the relationship of genetics with oncological illness. It also stands out the individual and collective repercussions caused by the experience of genetic counselling and the intertwining of the disease and heredity with other individual experiences. The study aimed to contribute to giving visibility to the experiences and demands of the women investigated and also to add studies of the risk, biotechnologies and subjectivities.AU

La tesis aborda la susceptibilidad hereditaria al cáncer de mama desde una perspectiva socio-antropológica. El tema es relevante debido a la actual valorización de la genética en el área de la oncología y a los impactos que ese campo de la medicina tiene en la vida de las personas y familias. Con base en una producción etnográfica, buscamos comprender cómo la práctica del asesoramiento genético interfiere en diferentes áreas de la vida de mujeres con cáncer de mama hereditario, como el psicoafectivo, social y familiar, asistidas por un instituto de investigación oncológica, perteneciente al sector privado del cuidado de la salud. La investigación se fundamenta en un conjunto de datos empíricos: entrevistas semiestructuradas con mujeres con (sospecha de) cáncer de mama hereditario, observación de consultas en el servicio de genética y documentos en línea relacionados con la herencia familiar de la enfermedad. Como resultado, se constató como las percepciones sobre la biomedicina sobre la noción de riesgo atraviesan la producción de subjetividades, identidades y colectividades de las interlocutoras. Otros puntos explorados en las narrativas fueron: las repercusiones individuales y colectivas provocadas por la experiencia de la consejería genética y el entrelazamiento de la enfermedad y la herencia con otras experiencias de carácter individual. El estudio pretendió dar visibilidad a las experiencias y demandas de las mujeres investigadas y contribuir a los estudios sobre riesgo, biotecnologías y subjetividades. AU

BRCAR: herramienta de soporte en la evaluación del riesgo para cáncer de mama / BRCAR: Support Tools for Risk Evaluation of Breast Cancer

Introducción: El cáncer de mama es el tumor maligno más frecuente en el mundo, en Cuba, es la segunda causa de muerte en mujeres. La insuficiencia en el diagnóstico precoz y la existencia de novedosas estrategias de tratamiento plantean la necesidad de establecer formas eficaces para identificar el riesgo en personas sanas, sin embargo en nuestro país no se cuenta con un método eficaz para predecir el riesgo y direccionar las acciones preventivas y terapéuticas. Objetivo: Crear un estándar nacional orientado a la identificación del cáncer de mama como soporte a la práctica médica y como herramienta de apoyo en la evaluación del riesgo. Método: Se combinaron 28 variables (determinadas por los factores de riesgo de cáncer de mama) a las cuales se les atribuyeron parámetros de ponderación asociados al nivel de incidencia registrado en la literatura médica, utilizando un algoritmo de votación como elemento matemático central. Resultados: Se desarrolló un sistema computarizado para la evaluación del riesgo de cáncer de mama en personas sanas. Conclusiones: BRCAR es una herramienta de soporte para objetivar el riesgo del cáncer de mama, al determinar el impacto de determinados factores de riesgo, con el fin de direccionar los métodos de estudio para la detección precoz(AU)

Introduction: Breast cancer is the most frequent malignant tumour in the world; it is the second cause of women death in Cuba. The insufficiency in early diagnosis and the existence of novel treatment strategies raise the need to establish effective ways to identify risk in healthy people, however in our country there is no effective method to predict risk and direct preventive actions and therapeutic. Objective: To create a national standard aimed at identifying breast cancer as a support to medical practice and support tool in risk assessment. Method: 28 variables (determined by risk factors for breast cancer) were combined; assigning to those variables weighting parameters associated with the level of incidence recorded in the medical literature, using a voting algorithm as the central mathematical element. Results: A computerized system was developed to assess the risk of breast cancer in healthy people. Conclusions: BRCAR is a support tool to objectify the risk of breast cancer, by determining the impact of certain risk factors, in order to direct study methods for early detection(AU)

Early Diagnostic Laboratory Tests of Disseminated Intravascular Coagulation in Newborn Infants

PURPOSE: The peak incidence of disseminated intravascular coagulation(DIC) in the pediatric age group is in the neonatal period. The objective was to determine the early diagnostic laboratory tests of DIC in newborn infants. METHODS: 46 neonates with DIC, admitted between January 1995 and November 1998 in NICU of Chungnarn National University Hospital, were compared with 49 newborn infants in control group. We checked platelet counts, PT, aPTT, FDP, fibrinogen and AT III in both groups. We defined abnormality of laboratory tests of DIC as values which outranged 2 S.D. of control group means. In DIC group, serial laboratory tests were performed in 35 patients. RESULTS: Symptoms or signs suggestive of DIC were abdominal distension(40%), bleeding(35%), apnea(15%), and lethargy(15%). The incidence of infection was 65%, and the incidence of keeping endotracheal tube, arterial line, umbilical venous catheterization, TPN and asphyxia was about 40%. Sensitivity of laboratory tests was as follows: fibrinogen was 63%, platelet count 59%, aPTT 49%. And specificity was 100% for FDP, 96% for platelet count, and 93% for fibrinogen. 22 patients showed at least one of the initially normal values changed to abnormal during follow up tests. The percentage of transition was 83% for fibrinogen and 64% for platelet count. In DIC group, 34 patients (74%) improved, but 12(26%) died. CONCLUSION: This study suggests that the most reliable initial diagnostic laboratory tests in DIC are fibrinogen and platelet counts.