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The objective of this work is to describe the imaging findings, clinical profile and treatment response in four Chinese adolescent patients presenting with ectopic germinoma arising from basal ganglia. The clinical presentation, treatment regimens and the imaging findings at presentation and after treatment were described upon retrospective review of four Chinese adolescent patients. CT of the brain showed mixed solid cystic mass lesions in three patients. In one patient, only ill-defined hyperdensity was noted in the affected basal ganglia. Correlative MRI brain studies showed similar findings of large solid cystic masses in three patients, whereas the fourth patient showed small hyperintensities on T2 weighted and fluid-attenuated inversion-recovery sequences. All lesions were confirmed to be germinomas on biopsy. Chemotherapy followed by radiotherapy was given to three patients. There was a dramatic response, with complete resolution of tumour bulk in two patients and .80% reduction in tumour bulk in one patient. Debulking surgery was performed in one subject who had received cranial radiotherapy; the last follow-up MRI showed no evidence of residual disease. [ABSTRACT FROM AUTHOR]

Graft rejection is a common problem after alternative donor transplantation for patients with refractory severe aplastic anemia (SAA). Intensification of the conditioning regimen, with the inclusion of irradiation, has often been advocated to combat this problem. With this approach engraftment rate improved, but the incidence of transplant-related complications is also increased, resulting in little change in the overall outcome. We investigated the use of the combination of fludarabine, cyclophosphamide and anti-thymocyte globulin as the conditioning regimen in five multiply-transfused SAA patients. Three patients received an HLA one-antigen disparate related donor transplant, while two patients were given marrow from matched, unrelated donors. The regimen was well tolerated, with only grade I toxicity encountered. With a median follow-up of 9 months, all patients are alive with complete donor chimerism. We conclude that fludarabine may be used in place of irradiation to augment the conditioning regimen of cyclophosphamide and anti-thymocyte globulin for alternative donor transplantation in children with SAA. Bone Marrow Transplantation (2001) 27, 125–128. [ABSTRACT FROM AUTHOR]

Carrier detection and prenatal testing for haemophilia B in Oriental populations have been hampered by the lack of informative markers within the factor IX (FIX) gene. We detected a T/C nucleotide variation at nucleotide 32770 in the poly-A region of the FIX gene in the mother of a haemophilia B child. Analysis of 139 unrelated alleles revealed a heterozygosity rate of 0·193, thus offering an additional marker for linkage analysis. Together with two other polymorphic sites (5′ MseI and 3′ HhaI) found in Chinese and Thai populations, these polymorphisms were useful in 66% of the families studied. [ABSTRACT FROM AUTHOR]