OBJECTIVETo explore the pathogenetic mechanism of a family affected with Waardenburg syndrome.

METHODSClinical data of the family was collected. Potential mutation of the MITF, SOX10 and SNAI2 genes were screened. Plasmids for wild type (WT) and mutant MITF proteins were constructed to determine their exogenous expression and subcellular distribution by Western blotting and immunofluorescence assay, respectively.

RESULTSA heterozygous c.763C>T (p.R255X) mutation was detected in exon 8 of the MITF gene in the proband and all other patients from the family. No pathological mutation of the SOX10 and SNAI2 genes was detected. The DNA sequences of plasmids of MITFand mutant MITFwere confirmed. Both proteins were detected with the expected size. WT MITF protein only localized in the nucleus, whereas R255X protein showed aberrant localization in the nucleus as well as the cytoplasm.

CONCLUSIONThe c.763C>T mutation of the MITF gene probably underlies the disease in this family. The mutation can affect the subcellular distribution of MITF proteins in vitro, which may shed light on the molecular mechanism of Waardenburg syndrome caused by mutations of the MITF gene.

Adolescent ; Adult ; Case-Control Studies ; Child ; Child, Preschool ; Female ; Humans ; Male ; Middle Aged ; Mutation ; genetics ; Pedigree ; Waardenburg Syndrome ; genetics ; Young Adult

OBJECTIVE: To explore the treatment and pathophysiology of extra-axil cerebrospinal fluid accumulation aft er skull surgery. METHODS: The treatment of 46 cases of pineal regional tumor was retrospectively studied. RESULTS: The CT showed that all patients had postoperative extra-axil cerebrospinal fluid accumulation in 6 hours after operation. 5 cases displayed symptomatic accumulation of extra-axil cerebrospinal fluid. 1 died 30 days aft er discharge, 4 performed S-P shunt and 3 of them switched to V-P shunt after S-P shunt failed. CONCLUSION Much more attention should be paid to postoperative accumulation of extra-axil cerebrospinal fluid. Both V-P and S-P are the effective strategies of therapy.
Cerebrospinal Fluid Shunts ; Humans ; Pinealoma ; cerebrospinal fluid ; surgery ; Postoperative Period ; Retrospective Studies ; Skull ; surgery

OBJECTIVE: To evaluate the time and effect of shunt operation on cryptococcal meningitis.
 METHODS: A total 7 patients received shunt operation for the therapy of cryptococcal meningitis patients and the data was retrospectively analyzed.
 RESULTS: Intracranial hypertension-caused symptoms were resolved immediately. There was no complication, no infection dissemination and no recrudescence of cryptococcal meningitis. 
 CONCLUSION Shunt operation is effective for intracranial hypertension caused by cryptococcal meningitis. It does not affect the antifungal treatment.
Antifungal Agents ; therapeutic use ; Drainage ; Humans ; Intracranial Hypertension ; surgery ; Meningitis, Cryptococcal ; drug therapy ; surgery ; Recurrence ; Retrospective Studies