RESUMEN
Early identification of germline BRCA1/2 mutations may be relevant for the management of patients with prostate cancer (PC) and to prevent future breast and ovarian cancers in their relatives. Several prediction tools have been developed to estimate the likelihood of a germline BRCA1/2 mutation and are widely used to optimize screening in breast and ovarian cancer patients. We aimed to elucidate the proportion of PC patients with known BRCA1/2 mutations who would have qualified for testing using two risk calculation models (BRCAPRO and the Manchester scoring system [MSS]). We analyzed 106 families with known BRCA1/BRCA2 mutations, including 23 with PC cases. Only 30% and 48% of PC patients who were known BRCA1/BRCA2 mutations carriers would have qualified for testing using BRCAPRO and MSS, respectively. A median of two breast and/or ovarian cancer cases per family had occurred between the first PC identified in a carrier and the cancer case leading to germline testing. PATIENT SUMMARY: We tested two models developed to predict the probability of inherited BRCA1/BRCA2 mutations and found that these tools underperform in men with prostate cancer and should not be used to optimize testing in this population.
Asunto(s)
Genes BRCA1 , Genes BRCA2 , Mutación de Línea Germinal , Neoplasias Ováricas , Neoplasias de la Próstata , Proteína BRCA1/genética , Proteína BRCA2/genética , Femenino , Células Germinativas , Humanos , Masculino , Neoplasias Ováricas/diagnóstico , Neoplasias Ováricas/genética , Neoplasias de la Próstata/diagnóstico , Neoplasias de la Próstata/genéticaRESUMEN
Os analistas participantes do Centro de Atendimento Psicanalítico da Sociedade Brasileira de Psicanálise de Porto Alegre deparam-se, frequentemente, com a questão de por que alguns pacientes aderem ao tratamento psicanalítico e muitos outros, não. Neste trabalho, é feita uma reflexão em torno de alguns fatores do paciente e do analista que possam estar implicados nessa questão, envolvendo vicissitudes da transferência e da contratransferência. Os dados levantados em relação à adesão ao tratamento referem-se ao período de janeiro de 2012 a janeiro de 2013.
The analysts participating in the Center of Psychoanalytical Treatment of the Brazilian Society of Psychoanalysis of Porto Alegre frequently face the problem of why some patients adhere to the psychoanalytical treatment and many do not. In this paper, a reflection is made about some factors regarding both the patient and the analyst; these factors may be implicated in this matter, involving vicissitudes of transference and countertransference. The data collected in relation to the adhesion to the treatment refers to the period from January 2012 to January 2013.
Los analistas participantes en la Clínica de Tratamiento Psicoanalítico de la Sociedad Brasilera de Psicoanálisis de Porto Alegre enfrentan la cuestión de por qué algunos pacientes adhieren al tratamiento psicoanalítico y muchos, en cambio, no. En este trabajo, se hace una reflexión sobre algunos factores del paciente y del analista que puedan estar relacionados a esta cuestión, involucrando vicisitudes de la transferencia y de la contratransferencia. Los datos obtenidos en relación a la adhesión al tratamiento se refieren al período de enero de 2012 a enero de 2013.
RESUMEN
Prader-Willi Syndrome (PWS) is a multisystemic genetic disease characterized by hypothalamic hypogonadism, mental retardation and compulsive hyperphagia associated with early and severe obesity. Complications of overweight, such as type-2 diabetes Mellitus, dyslipidemia and diffuse atheromatosis are common. We report a 15 years old morbid obese male with PWS, with a body mass index of 57.7 kg/m2, refractory to weight-lowering treatments. He underwent preoperative evaluation and treatment by a multidisciplinary team, and subjected to a 95% gastrectomy, leaving a 50 ml remnant pouch and a long limb (120 cm) Y-Roux gastro-jejuno anastomosis. There were no surgical complications, oral feeding was initiated at the 5th day with an hypocaloric diet. During the first postoperative year, the patient lost 70 kg, achieving a body mass index of 30 kg/m2. Surgical treatment can become a therapeutic choice for obesity in PWS patients.
