SEOM clinical guidelines for the treatment of metastatic prostate cancer (2017)

Androgen deprivation treatment was the only treatment available for metastatic prostate cancer until recently, with docetaxel as the only treatment with a proven survival benefit in castration-resistant prostate cancer (CRPC). Several drugs have been approved in the castration-resistant disease (sipuleucel-T, cabazitaxel, abiraterone, enzalutamide, radium-223). More recently, docetaxel and abiraterone have been moved to the hormone-sensitive disease setting, achieving better patient survival. The purpose of this article is to define the state of the art in the treatment of prostate carcinoma (AU)

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Una nueva mutación en el gen GLDC en la hiperglicinemia no cetósica / A new mutation in the GLDC gene in non-ketotic hyperglycinaemia

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Phase II trial of sequential subcutaneous interleukin-2 plus interferon alpha followed by sorafenib in renal cell carcinoma (RCC)

PURPOSE: Immunotherapy (IL-2 and INF-α) was the treatment of choice for advanced renal cell carcinoma (RCC) until antiangiogenic therapy with tyrosin kinase inhibitors was developed in the early 2000s. This clinical trial explored the efficacy and toxicity of sequential treatment of IL-2 plus INF-α followed by sorafenib. METHODS: Eligibility criteria included measurable, non-resectable, histologically confirmed predominantly clear cell RCC, no prior systemic treatment, and ECOG PS 0-2. The treatment regimen was a 6-week cycle of subcutaneous IL-2 at 9 × 10(6) IU on days 1-6 of weeks 1, 2, 4 and 5 plus s.c. INF-α at 6 × 10(6) IU on days 1, 3 and 5 of weeks 1-6. Responders received 6 additional weeks of this regimen. All patients received oral sorafenib (400 mg bid) after immunotherapy until disease progression. The primary endpoint was progression-free survival. RESULTS: Forty-one patients were enrolled, median age 57 years. ECOG was 0/1 in 17/20 patients, 35 patients had prior nephrectomy and 18 patients pure clear cell cancer. Median PFS was 7.4 months (95 % CI 6.5-13.1) and OS was 16.6 months (95 % CI not reached). In 36 patients evaluable for response, ORR was 44.4 % and control rate was 94.4 %. Most adverse events (AEs) were Grade 1 or 2 toxicities (84.7 %). During immunotherapy the most common AEs were pyrexia (82.9 %), asthenia (56.1 %) and anorexia (46.3 %), whereas during sorafenib were diarrhoea (48.8 %) and hand-foot syndrome (46.3 %). CONCLUSIONS: A sequential regimen of IL-2 and INF-α followed by sorafenib showed effectiveness and manageable toxicity in patients with advanced RCC (AU)

Tirosinemia tipo I: dos formas atípicas de presentación clínica / Tyrosinemia type I: two atypical forms of clinical presentation

Se exponen dos casos de tirosinemia tipo I con presentación atípica. El primero se inicia con crisis convulsivas secundarias a hipoglucemias graves. En el estudio metabólico para el diagnóstico de las hipoglucemias se detecta un perfil típico de tirosinemia tipo I en sangre y orina. El segundo caso fue un hallazgo casual en el contexto de un ingreso por bronquitis. Ambos casos siguen tratamiento con 2-(2-nitro-4-trifluorometilbenzoil}-1-3-ciclohexanediona( NTBC) en combinación con dieta con bajo contenido en proteínas naturales suplementas con fórmula especial sin tirosina ni fenilalanina. En la actua.lidad no presentan alteraciones clínico-analíticas ni complicaciones

The authors describe two cases of tyrosinemia type 1 with atypical clinical presentation. The first patient presented with refractory seizure secondary to hypoglycemic episodes. The metabolic study for the differential diagnosis of hypoglycemi, revealed a pattern suggestive of tyrosinemia type I. In the second patient the presence of tyrosinemia was detected during a hospital stayowing to bronchitis. In both cases, treatment with 2-(2-nitro-4, trifluoromethylbenzoyl)-1,3-cyclohexane(NTBC) combine (with a low protein diet supplemented with a tyrosine-and phenylalanine-free formula was prescribed. There have beenn no complications during the follow-up period in either case and, at the present time, the clinical and analytical findings are normal