CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

Background Oral-facial-digital type 1 syndrome (OFD1; OMIM 311200) belongs to the expanding group of disorders ascribed to ciliary dysfunction. With the aim of contributing to the understanding of the role of primary cilia in the central nervous system (CNS), we performed a thorough characterization of CNS involvement observed in this disorder. Methods A cohort of 117 molecularly diagnosed OFD type I patients was screened for the presence of neurological symptoms and/or cognitive/behavioral abnormalities on the basis of the available information supplied by the collaborating clinicians. Seventy-one cases showing CNS involvement were further investigated through neuroimaging studies and neur…

POSIZIONAMENTO DI PROTESI PENIENA MALLEABILE. RISOLUZIONE DI COMPLICANZA INTRAOPERATORIA

Posizionamento di protesi peniena malleabile. Risoluzione di complicanza intraoperatoria.

ABSTRACT. We report a technique for the solution of an intraoperative complication occurred during penile prosthetic surgery. MATERIALS AND METHODS. A 70-year-old patient underwent open radical retropubic prostatectomy in 2004 due to a prostate cancer - Gleason 6 (3+3) pT2N0M0. The erectile dysfunction subsequently observed was not responsive to oral or intracavernosal drug administration, so a malleable penile implant surgery was recommended. RESULTS. During the positioning of the left penile cylinder, a septum perforation (cross-over) occurred. Instead of interrupting and postpone surgery in order to allow the septum to recover, we decided to proceed utilizing our technique for a safe pos…