First endocavitary treatment with cord blood platelet gel for perianal fistula.

Cord blood platelet gel is prepared by activation of coagulation in a platelet concentrate obtained from cord blood. During the process of clot formation, platelet alpha-granules release growth factors that promote tissue repair. However, in the form of gel, it is not possible to inject it into small, narrow and deep cavities. Therefore, we analyzed gelification kinetics and developed an application technique of platelet gel in liquid form. This semi-activated form provides for the activation of the coagulation process but not the gelification of the platelet concentrate. In this way, it can be easily inoculated in an endocavitary space, and then complete in vivo the gelification process. We report the successful use of this procedure to heal a recurrent perianal fistula.

Molecular dissection of the VHL gene in solitary capillary hemangioblastoma of the central nervous system.

Capillary hemangioblastomas (HGBs) of the CNS occur either sporadically or as part of the von Hippel-Lindau (VHL) syndrome. Molecular characterizations of the VHL gene in sporadic HGBs at the somatic level have been limited to date. We investigated the VHL gene in 57 patients most of whom (55 [96%] of 57) had a solitary CNS HGB at the time of surgery. Tissues from 23 HGBs of these patients (2 VHL related and 21 unrelated) were also investigated at genetic and epigenetic levels. Two of the 51 patients with apparently sporadic HGBs and no additional evidence of VHL (∼4%) were found to have a germline VHL gene mutation; both of these patients subsequently developed evidence of VHL syndrome. Somatic VHL gene mutations were found in 11 (52%) of the 21 non-VHL-related cases. A germline mutation was identified in 5 (84%) of 6 VHL-associated HGBs; double gene inactivation was observed in tumor tissue from VHL syndrome patients. Seven different previously unreported VHL gene alterations (6 somatic and 1 germline) were identified; double hits were identified in 7 (12%) of 57 cases. Our findings confirm the usefulness of VHL gene analysis at the germline level in patients who present with apparently solitary HGB. Moreover, the genetic and epigenetic VHL gene investigations performed support a key role for functional alterations of the VHL gene in sporadic neuraxial HGB.