Abstract Spinal muscular atrophy (SMA) is considered one of the most common autosomal recessive disorders, with an estimated incidence of 1 in 10,000 live births. Testing for SMA has been recommended for inclusion in neonatal screening (NBS) panels since there are several therapies available and there is evidence of greater efficacy when introduced in the pre/early symptomatic phases. In Brazil, the National Neonatal Screening Program tests for six diseases, with a new law issued in 2021 stating that it should incorporate more diseases, including SMA. In the present study, dried blood spot (DBS) samples collected by the Reference Services of Neonatal Screening of RS and SP, to perform the conventional test were also screened for SMA, using real-time PCR, with SALSA MC002 technique. A total of 40,000 samples were analyzed, enabling the identification of four positive cases of SMA, that were confirmed by MLPA. Considering our sampling, Brazil seems to have an incidence comparable to the described in other regions. This work demonstrated that the use of the MC002 technique in samples routinely collected for the conventional NBS program is suitable to screen for SMA in our conditions and can be included in the expansion of the neonatal screening programs.

Abstract Tuberous sclerosis complex (TSC) is an autosomal dominant cancer predisposition disorder caused by heterozygous mutations in TSC1 or TSC2 genes and characterized by mTORC1 hyperactivation. TSC-associated tumors develop after loss of heterozygosity mutations and their treatment involves the use of mTORC1 inhibitors. We aimed to evaluate cellular processes regulated by mTORC1 in TSC cells with different mutations before tumor development. Flow cytometry analyses were performed to evaluate cell viability, cell cycle and autophagy in non-tumor primary TSC cells with different heterozygous mutations and in control cells without TSC mutations, before and after treatment with rapamycin (mTORC1 inhibitor). We did not observe differences in cell viability and cell cycle between the cell groups. However, autophagy was reduced in mutated cells. After rapamycin treatment, mutated cells showed a significant increase in the autophagy process (p=0.039). We did not observe differences between cells with distinct TSC mutations. Our main finding is the alteration of autophagy in non-tumor TSC cells. Previous studies in literature found autophagy alterations in tumor TSC cells or knock-out animal models. We showed that autophagy could be an important mechanism that leads to TSC tumor formation in the haploinsufficiency state. This result could guide future studies in this field.

Abstract Breast cancer (BC) risk assessment models base their estimations on different aspects of a woman’s personal and familial history. The Gail and Tyrer–Cuzick models are the most commonly used, and BC risks assigned by them vary considerably especially concerning familial history. In this study, our aim was to compare the Gail and Tyrer-Cuzick models after initial screening for familial history of cancer in primary care using the FHS-7 questionnaire. We compared 846 unrelated women with at least one positive answer to any of the seven FHS-7 questions (positive group) and 892 unrelated women that answered negatively (negative group). Concordance between BC risk estimates was compared by Bland-Altman graphics. Mean BC risk estimates were higher using the Tyrer-Cuzick Model in women from the positive group, while women from the negative group had higher BC risk estimates using the Gail model. With increasing estimates, discordance also increased, mainly in the FHS-7 positive group. Our results show that in women with a familial history of cancer, the Gail model underestimates risk and the Tyrer-Cuzick seems to be more appropriate. FHS-7 can be a useful tool for the identification of women with higher breast cancer risks in the primary care setting.

Abstract Tuberous sclerosis complex is an autosomal dominant disorder characterized by skin manifestations and formation of multiple tumors in different organs, mainly in the central nervous system. Tuberous sclerosis is caused by the mutation of one of two tumor suppressor genes, TSC1 or TSC2. Currently, the development of novel techniques and great advances in high-throughput genetic analysis made mutation screening of the TSC1 and TSC2 genes more widely available. Extensive studies of the TSC1 and TSC2 genes in patients with TSC worldwide have revealed a wide spectrum of mutations. Consequently, the discovery of the underlying genetic defects in TSC has furthered our understanding of this complex genetic disorder, and genotype-phenotype correlations are becoming possible, although there are still only a few clearly established correlations. This review focuses on the main symptoms and genetic alterations described in TSC patients from 13 countries in three continents, as well as on genotype-phenotype correlations established to date. The determination of genotype-phenotype correlations may contribute to the establishment of successful personalized treatment for TSC.

OBJECTIVE: To assess the knowledge of nurses involved in the care of oncology patients in a public university hospital, regarding breast cancer and hereditary breast cancer, and to verify the use of such knowledge in their daily practice.METHODS: This is a descriptive cross-sectional study. Data were obtained through a structured, self-administered questionnaire. Out of 154 nurses, 137 (88.9%) agreed to participate in the study. Two questionnaires were excluded such that 135 questionnaires were analyzed.RESULTS: The global percentage of correct answers was not associated with age (p=0.173) or degree/specialization (p=0.815). Questions were classified into categories. In categories involving knowledge of established breast cancer risk factors and indicators of hereditary breast cancer, the rate of correct answers was 65.8% and 66.4%, respectively. On the practice of genetic counseling, 40.7% of those interviewed were not sure about the definition of genetic counseling and 78.5% reported never having identified or referred a patient at genetic risk for specialized risk assessment. Practice of educational actions regarding this subject was reported by 48.5% of those interviewed.CONCLUSION: This study reinforces the need to develop qualifying actions for nurses, so that strategies to control breast cancer become effective in their health care practice.

OBJETIVO: evaluar los conocimientos del personal de enfermería involucrado en el cuidado de los pacientes de oncología de un hospital universitario público, en relación con el cáncer de mama y el cáncer de mama hereditario, y verificar el uso de esos conocimientos en su práctica diaria.MÉTODOS: estudio descriptivo de corte transversal; los datos se obtuvieron mediante un cuestionario estructurado autoadministrado. De un total de 154 enfermeros/as, 137 (88,9%) aceptaron participar en el estudio. Se excluyeron dos cuestionarios, totalizando 135 cuestionarios analizados.RESULTADOS: el porcentaje global de respuestas correctas no se asoció con la edad (p=0,173) o título/especialización (p=0,815). Las preguntas fueron clasificadas en categorías. En las categorías que implican el conocimiento de los factores de riesgo establecidos del cáncer de mama y los indicadores del cáncer de mama hereditario, la tasa de respuestas correctas fue de 65,8% y 66,4%, respectivamente. En relación con la práctica del consejo genético, el 40,7% de los entrevistados/as no estaban seguros/as acerca de la definición de consejo genético y el 78,5% informó que nunca habían identificado o derivado a un paciente en situación de riesgo genético para una evaluación de riesgos especializada. La práctica de acciones educativas con respecto a este tema se reportó en el 48,5% de los entrevistados/as.CONCLUSIÓN: este estudio refuerza la necesidad de desarrollar acciones de calificación para el personal de enfermería, para que las estrategias de control del cáncer de mama sean efectivas en su práctica asistencial.

OBJETIVO: avaliar os conhecimentos de enfermeiros envolvidos nos cuidados de pacientes oncológicos em um hospital público universitário, em relação ao câncer de mama e ao câncer de mama hereditário e verificar o uso de tais conhecimentos em sua prática diária.MÉTODOS: este é um estudo transversal. Os dados foram obtidos por meio de um questionário estruturado autoaplicado. De um total de 154 enfermeiros convidados a participar do estudo, 137 (88,9%) concordaram. Dois questionários foram excluídos, totalizando 135 analisados.RESULTADOS: a porcentagem global de respostas corretas não estava associada à idade (p = 0,173) ou à formação/especialização (p = 0,815). As perguntas foram classificadas em categorias. Nas categorias que abrangiam conhecimentos relacionados aos fatores de risco estabelecidos para o câncer de mama e aos indicadores do câncer de mama hereditário, a taxa de respostas corretas foi de 65,8% e 66,4%, respectivamente. Em relação à prática de aconselhamento genético, 40,7% dos entrevistados não tinham certeza sobre a definição de aconselhamento genético, e 78,5% relataram nunca ter identificado ou encaminhado um paciente com risco genético para uma avaliação de riscos especializada. A prática de ações educativas em relação a esse tema foi relatada por 48,5% dos entrevistados.CONCLUSÃO: este estudo reforça a necessidade de desenvolver ações qualificadoras para enfermeiros de modo que as estratégias para o controle do câncer tornem-se eficientes em suas prática de cuidados de saúde.

OBJETIVO: avaliar os conhecimentos de enfermeiros envolvidos nos cuidados de pacientes oncológicos em um hospital público universitário, em relação ao câncer de mama e ao câncer de mama hereditário e verificar o uso de tais conhecimentos em sua prática diária.MÉTODOS: este é um estudo transversal. Os dados foram obtidos por meio de um questionário estruturado autoaplicado. De um total de 154 enfermeiros convidados a participar do estudo, 137 (88,9%) concordaram. Dois questionários foram excluídos, totalizando 135 analisados.RESULTADOS: a porcentagem global de respostas corretas não estava associada à idade (p = 0,173) ou à formação/especialização (p = 0,815). As perguntas foram classificadas em categorias. Nas categorias que abrangiam conhecimentos relacionados aos fatores de risco estabelecidos para o câncer de mama e aos indicadores do câncer de mama hereditário, a taxa de respostas corretas foi de 65,8% e 66,4%, respectivamente. Em relação à prática de aconselhamento genético, 40,7% dos entrevistados não tinham certeza sobre a definição de aconselhamento genético, e 78,5% relataram nunca ter identificado ou encaminhado um paciente com risco genético para uma avaliação de riscos especializada. A prática de ações educativas em relação a esse tema foi relatada por 48,5% dos entrevistados.CONCLUSÃO: este estudo reforça a necessidade de desenvolver ações qualificadoras para enfermeiros de modo que as estratégias para o controle do câncer tornem-se eficientes em suas prática de cuidados de saúde.

OBJECTIVE: To assess the knowledge of nurses involved in the care of oncology patients in a public university hospital, regarding breast cancer and hereditary breast cancer, and to verify the use of such knowledge in their daily practice.METHODS: This is a descriptive cross-sectional study. Data were obtained through a structured, self-administered questionnaire. Out of 154 nurses, 137 (88.9%) agreed to participate in the study. Two questionnaires were excluded such that 135 questionnaires were analyzed.RESULTS: The global percentage of correct answers was not associated with age (p=0.173) or degree/specialization (p=0.815). Questions were classified into categories. In categories involving knowledge of established breast cancer risk factors and indicators of hereditary breast cancer, the rate of correct answers was 65.8% and 66.4%, respectively. On the practice of genetic counseling, 40.7% of those interviewed were not sure about the definition of genetic counseling and 78.5% reported never having identified or referred a patient at genetic risk for specialized risk assessment. Practice of educational actions regarding this subject was reported by 48.5% of those interviewed.CONCLUSION: This study reinforces the need to develop qualifying actions for nurses, so that strategies to control breast cancer become effective in their health care practice.

OBJETIVO: evaluar los conocimientos del personal de enfermería involucrado en el cuidado de los pacientes de oncología de un hospital universitario público, en relación con el cáncer de mama y el cáncer de mama hereditario, y verificar el uso de esos conocimientos en su práctica diaria.MÉTODOS: estudio descriptivo de corte transversal; los datos se obtuvieron mediante un cuestionario estructurado autoadministrado. De un total de 154 enfermeros/as, 137 (88,9%) aceptaron participar en el estudio. Se excluyeron dos cuestionarios, totalizando 135 cuestionarios analizados.RESULTADOS: el porcentaje global de respuestas correctas no se asoció con la edad (p=0,173) o título/especialización (p=0,815). Las preguntas fueron clasificadas en categorías. En las categorías que implican el conocimiento de los factores de riesgo establecidos del cáncer de mama y los indicadores del cáncer de mama hereditario, la tasa de respuestas correctas fue de 65,8% y 66,4%, respectivamente. En relación con la práctica del consejo genético, el 40,7% de los entrevistados/as no estaban seguros/as acerca de la definición de consejo genético y el 78,5% informó que nunca habían identificado o derivado a un paciente en situación de riesgo genético para una evaluación de riesgos especializada. La práctica de acciones educativas con respecto a este tema se reportó en el 48,5% de los entrevistados/as.CONCLUSIÓN: este estudio refuerza la necesidad de desarrollar acciones de calificación para el personal de enfermería, para que las estrategias de control del cáncer de mama sean efectivas en su práctica asistencial.

Abstract Introduction: Phenylketonuria (PKU) is caused by the deficient activity of phenylalanine hydroxylase. Aim: To identify the factors associated with treatment adherence among patients with PKU seen at a southern Brazil reference center. Methodology: A cross-sectional, outpatient-based study including 56 patients with PKU (median age, 12 years) for whom a Phe-restrict diet plus specific metabolic formula have been prescribed. Patients were considered adherent or nonadherent depending on the median phenylalanine concentration for the 12 months prior to study and target levels of phenylalanine for each age range (<13 years = ≤360 µmol/L; ≥13 years = ≤900 µmol/L). Data were collected through a review of patient’s medical records and a set of interviews with patients and their relatives. Results: Eighteen patients (32.1%; ≥13 years, 11) were classified as treatment adherent. Among all factors analyzed, only mental retardation, living with parents, and level of maternal education were associated with adherence to treatment. Conclusion: Our findings reinforce the importance of the family as promoting factor for treatment adherence.