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We present three cases of genetically confirmed Gorlin syndrome with desmoplastic medulloblastoma (DMB) in whom tumor recurred despite standard therapy. One patient was found to have a novel germline missense PTCH1 mutation. Molecular analysis of recurrent tumor using fluorescent in situ hybridization (FISH) revealed PTEN and/ or PTCH1 loss in 2 patients. Whole exome sequencing (WES) of tumor in one patient revealed loss of heterozygosity of PTCH1 and a mutation of GNAS gene in its non-coding 3' -untranslated region (UTR) with corresponding decreased protein expression. While one patient died despite high-dose chemotherapy (HDC) plus stem cell rescue (ASCR) and palliative radiotherapy, two patients are currently alive for 18+ and 120+ months respectively following retrieval therapy that did not include irradiation. Infants with DMB and GS should be treated aggressively with chemotherapy at diagnosis to prevent relapse but radiotherapy should be avoided. The use of molecular prognostic markers for DMB should be routinely used to identify the subset of tumors that might have an aggressive course.

Allogeneic hematopoietic stem cell transplantation (HSCT) is curative for chronic granulomatous disease (CGD), but many patients lack a suitably matched related donor. We report successful outcomes after mismatched, unrelated-donor umbilical cord blood transplantation (uUCBT) in two boys with X-linked CGD. Both patients experienced autologous recovery after first transplants, required second transplants to achieve durable donor engraftment, and are alive 27 and 15 months post-transplant. Both had invasive fungal disease and received granulocyte transfusions. In conclusion, uUCBT is effective in children with CGD, but immunosuppression in the conditioning regimen may need to be increased to decrease the risk of graft rejection.

We optimized a spectrophotometric method for measuring ribulose-l,5-bisphosphate carboxylase oxygenase (Rubisco) activity in crude extracts of the kelp Laminaria saccharina Lamour. Activity exhibited a decline during the assays, such that rates determined over a 10-min period were only 70% of activity during the first minute. Activity was significantly enhanced by addition of HCO3− to the extraction buffer and was stable for at least 4 h. Highest activities were determined using small extract loads (1–2.5 mg fresh weight·mL−1 of assay mixture); extract loads of 10 mg·mL−1caused a 25% decrease in activity. Rubisco activities determined for individual kelp plants using the spectrophotometric method were significantly correlated with total protein and gross photo synthetic capacity (Pmax) and were 1.5–2 times higher than Pmax. Low Rubisco activities relative to photosynthetic rates reported in many previous studies of macroalgae and microalgae may have resulted at least partly from underestimation of enzyme activity by radiometric assays using relatively large volumes of un-activated crude extract and assay periods longer than 1 min.