[Multiple endocrine neoplasia type 1: genetic study of a large family]. / Síndrome de la neoplasia endocrina múltiple tipo 1: estudio genético de una extensa familia.

Multiple endocrine neoplasia syndrome type 1 (MEN-1) is an inherited disorder characterised by the predisposition of the cells from parathyroid glands, endocrine pancreas and adenohypophysis to develop neoplasms. We report the genetic study of an extended family with at least 8 affected patients and 10 putative carriers of a mutation in MEN-1 gene. One intragenic (Asp418 GAC-->GAT), and five flanking markers were characterised in the family by PCR amplification and polyachrylamide gel electrophoresis. Association of the disease to MEN-1 gene was confirmed for this family: all the affected members show a haplotype in common. Three patients at risk were diagnosed as non-carriers, since they have not inherited that haplotype. The remaining seven members, presymptomatic carriers, are included in a follow-up protocol. The genetic study of families segregating MEN-1 syndrome are useful in avoiding indiscriminate follow-up determinations to those members who have not received the genetic predisposition to develop any of the manifestations of the syndrome. Segregation analysis with linked markers is useful, under certain circumstances, to perform such type of studies.

[Supernumerary spleen]. / Bazo supernumerario.

The diagnosis of the accessory spleen, if unsuspected, is basically anatomopathological due to its frequency and, above all, its nonspecific clinical features. We report a case of a retroperitoneal mass that was shown to be composed of accessory splenic tissue.

[Rigid ureteroscopy. Results and complications]. / Ureteroscopia rígida. Resultados y complicaciones.

Analysis of results and complications of retrograde rigid ureterorenoscopies (URS) performed in our unit between August 1985 and June 1990. Our series includes 122 URS performed in 106 patients: 68% female and 32% male. A rigid ureteroscopy Storz 11.5 Ch was used. URS indications were: 72% treatment of ureteral lithiasis, 14% diagnosis, 7% treatment of ureteral tumores and 3% other reasons. Treated lithiasis were predominantly located in the pelvic ureter. Overall success in the treatment of lithiasis was 92.86% in "primary" lithiasis, and 71.43% in post-ESWL. URS allowed us to resolve troubles of differential diagnosis in 93.75% of cases. With a complications rate of 19.7%, only 3.28% were considered relevant.