ABSTRACT
SUMMARY Metastatic pheochromocytomas (PHEOs) and paragangliomas (sPGLs) are rare neural crest-derived tumors with a poor prognosis. About 50% of them are due to germ-line mutations of the SDHB gene. At present, there is no cure for these tumors. Their therapy is palliative and represented by different options among which antiangiogenic drugs, like sunitinib, have been hypothesized to be effective especially in malignant SDHB mutated tumors. We report the effects of sunitinib therapy in a SDHB mutation carrier affected by a malignant sPGL. During 101 weeks of therapy at different doses, sunitinib was able to cause a partial response and then a stable disease for a total of 78 weeks. This favorable response is the longest, out of the 35 so far reported in the literature, registered in a patient treated exclusively with sunitinib but, similarly to the other responses, the effect was limited in time. From our analysis of the scanty data present in the literature, the effect of sunitinib does not seem to be different among wild-type patients and those carrying a cluster 1 germ-line mutation. Sunitinib seems able to slow the disease progression in some patients with malignant PHEO/PGL and therefore may represent a therapeutic option, although randomized controlled studies are needed to assess its efficacy definitively in the treatment of these aggressive tumors.
Subject(s)
Humans , Male , Adult , Paraganglioma/drug therapy , Pyrroles/therapeutic use , Angiogenesis Inhibitors/therapeutic use , Indoles/therapeutic use , Mutation/genetics , Antineoplastic Agents/therapeutic use , Paraganglioma/genetics , Paraganglioma/blood supply , Succinate Dehydrogenase/genetics , Treatment Outcome , Sunitinib , Neoplasm MetastasisABSTRACT
Hipogonadismo de comienzo tardío, es una condición que afecta 6% al 12% de hombres entre 40 y 70 años y aun así, está subdiagnosticada, por lo que se propone un cuestionario de validación diagnóstica, con el objetivo de lograr mayor sensibilidad, especifidad y predictividad que los cuestionarios ya existentes. Se analizaron 107 hombres entre 45 y 70 años, con disminución del entusiasmo en actividad diaria, cansancio fácil, menor productividad en su trabajo, cambios del humor con propensión a la irritabilidad, disminución de su masa magra muscular, con tendencia al sobrepeso y afectación en actividades recreativas y deportivas. Se hizo interrogatorio exhaustivo, examen físico y pruebas de laboratorio (perfil 20, perfil hormonal urológico masculino, antígeno prostático específico total, libre y relación libre/total, examen de orina y urocultivo). Se solicitó contestar al paciente tres cuestionarios de validación diagnóstica del hipogonadismo de comienzo tardío: Heinemann AMS (Ageing Males Survey-1999, St. Louis University, Androgen Deficiency in Aging Male), Morley ADAM-2000 y el cuestionario de validadción diagnóstica del hipogonadismo de comienzo tardío-Potenziani-2007, para ser comparados y demostrar su validez con pruebas de especificidad y sensibilidad, índice de Youden, pruebas de concordancia con intervalos de confianza del 95%, en relación al diagnóstico bioquímico del hipogonadismo de comienzo tardío. Los resultados arrojaron que el cuestionario "Potenziani" fue más sensible (88,57%), fue más específico (41,67%), tuvo el índice de validez más alto (57,01%) y el valor predictivo positivo más alto de los tres cuestionarios con el 42,5%. Por tal motivo se ha demostrado que el cuestionario propuesto es más adecuado que Heineman-AMS y el Morley-ADAM en la aproximación diagnóstica del síndrome de hipogonadismo de comienzo tardio
Late onset hypogonadism a condition which affect 6%-12% of men between 40-70 years old, and still it is subdiagnosed for which we did a validation questionnaire with the objetive to be more sensitive, especific and predictive that old questionnaires. We analized 107 men with ages between 45-70 years old whom consulted for libido deterioration, erectile dysfunction, less enthusiasm of daily life, less work-productivity, easy tiredness, humor changes with irritability, less muscle mass, overweight, and deterioration of sexual life in general. We performed exhaustive interrogatory, physical examination, and laboratoty test (20 profile, hormonal-urologic profile, prostatic specific antigen, urine and urocultive). We ask them to complete three questionnaires of late onset hypogonadism diagnostic validation: Heinemann AMS, Morley ADAM, Potenziani 2007, to be compared and show its validity with specificity and sensibility tests, Youden Index, test of concordance with confidence interval of 95%, in relation to biochemical diagnosis of deficiency testosterone syndrome. The results were that the Potenziani`s cuestionary was more sensible (88.57%), more specific (41.67%), with the validation index more high (57.01%) and with the positive predictive value more high too (42.5%). For that reason we show that Potenziani`s validation questionnaire of late onset hypogonadism, is more adecuate in the diagnostic aproximation of this condition
Subject(s)
Humans , Male , Adult , Middle Aged , Androgens/deficiency , Hypogonadism/diagnosis , Adams-Stokes Syndrome/pathology , Testosterone/deficiency , Surveys and QuestionnairesABSTRACT
El presente artículo de revisión tiene como objetivo mencionar aspectos importantes del tema del varicocele juvenil, pasando por su definición, clasificación, historia, temas controversiales, fisiopatología, factores pronósticos, diagnóstico, biopsia testicular, indicaciones de cuando estudiar a éstos pacientes juveniles, terapias actuales con un extensa bibliografía