Langerhans cell histiocytosis of the petrous bone with sudden sensorineural hearing loss. Case report.

A 56-year-old woman with Langerhans cell histiocytosis of the petrous bone presented with sudden onset of sensorineural hearing loss and vertigo without other neurological impairment, mimicking idiopathic sudden sensorineural hearing loss. Differential diagnosis was difficult until neuroimaging demonstrated a lesion of the petrous bone. The patient eventually underwent removal of the lesion via the transpetrosal approach, and received postoperative chemotherapy consisting of vinblastine, methotrexate, 6-mercaptopurine, and prednisolone.

Transcriptional regulation of the human ABO histo-blood group genes is dependent on the N box upstream of the proximal promoter.

Background: Our previous studies of the transcriptional regulation of the human ABO gene indicated that negative regulatory elements are present in the sequence just upstream from the proximal promoter. The role of the -275 to -118 region in regulation of ABO gene transcription is further characterized.

Study Design And Methods: Transient transfection experiments into various cells were performed with luciferase reporter plasmids carrying ABO upstream sequences, and electrophoretic mobility shift assay was carried out with a nuclear extract prepared from the human gastric cancer KATOIII cells.

Alternative promoter identified between a hypermethylated upstream region of repetitive elements and a CpG island in human ABO histo-blood group genes.

We have studied the expression of human histo-blood group ABO genes during erythroid differentiation, using an ex vivo culture of AC133(-)CD34(+) cells obtained from peripheral blood. 5'-Rapid amplification of cDNA ends analysis of RNA from those cells revealed a novel transcription start site, which appeared to mark an alternative starting exon (1a) comprising 27 bp at the 5'-end of a CpG island in ABO genes. Results from reverse transcription-PCR specific to exon 1a indicated that the cells of both erythroid and epithelial lineages utilize this exon as the transcription starting exon.