A case of mosaic Klinefelter syndrome associated with isodicentric Yp

We describe a case of mosaic Klinefelter syndrome demonstrating an isodicentric Y chromosome. A 70-year-old man visited our outpatient clinic complaining of dysuria resulting from atrophy of the penis. His height was 170 cm and his weight was 60 kg. A serum hormonal analysis revealed hypergonadotropic hypogonadism. A chromosomal analysis with fluorescence in situ hybridization revealed four cell lines in which the karyotypes were 47,XXY, 46,XY, 46,XX and 47,XX,idic(Y) (q11.2). To the best of our knowledge this is the first case of mosaic Klinefelter syndrome bearing an isodicentric Y chromosome. The origin of the isodicentric Y is discussed.     

Accumulated allelic losses in the development of invasive urothelial cancer

To investigate the roles of allelic loss in the development of urothelial cancer, loss of heterozygosity was examined on 7 chromosomal arms in 49 cases of urothelial cancer of various grades and stages. Loss of heterozygosity was found on alleles in order of frequency as follows: 9q (21/38, 55%), 11p (20/44, 45%), 17p (18/42,43%), 13q (10/39,26%), 3p (8/41, 20%), 10q 2/29, 7%) and 1p (1/36, 3%). lnvasive (high-grade or ≥pT2) tumors showed the loss of 17p (13/16,81%) and the loss of 13q (7/16, 44%) with significantly higher frequencies than non-invasive (grade 1-2 ≤_pTI ) tumors. Although the loss of 3p and the loss of 11p were also more frequently associated with the invasive phenotypes, the loss of 11p was detected in a considerable number (9 of 26,35%) of non-invasive tumors. Our results indicate that the loss of 11p might generally occur at an earlier stage before the loss of 3p, 13q or 17p in tumor progression. Since no correlation was found between the loss of 9q and the tumor grade or stage, this genetic alteration appears to be unrelated to invasiveness, and could be one of the initial events in tumorigenesis. Although accumulated allelic losses of 3p, 11p, 13q and 17p are considered to be involved in the development of the invasive type of urothelial cancers, these multiple genetic alterations may have already occurred in some pathologically non-invasive urothelial cancers. Furthermore, there appears to be some variation in the pattern of cumulative allelic loss.     

Membrane-associated Lymphotoxin Expression and Functional Analysis of Lymphokine-activated Killer Cells Derived from Tumor-infiltrating Lymphocytes

The expression of a membrane-associated lymphotoxin molecule (mLT) on lymphokine-activated killer (LAK) cells obtained from 18 patients with malignant tumors and its role in the tumor cell killing mechanisms were investigated. LAK cells from tumor-infiltrating lymphocytes (TIL-LAK cells) were mainly composed of CD3-positive cells, whereas LAK cells from peripheral blood lymphocytes (PBL-LAK cells) were mainly composed of CD16- and CD56-positive cells. However, mLT was found to be expressed on TIL-LAK cells as well as PBL-LAK cells. The degree of mLT expression correlated with the killing activity of LAK cells towards L929 cells (r=0.806, P <0.01, n = 15), but not with that towards Daudi or K562 cells. Although the degree of mLT expression correlated with the amount of secreted lymphotoxin (LT) in the supernatant of LAK cell culture, the secreted LT itself could not account for the tumor cell killing activity of LAK cells. Polyclonal rabbit anti-LT antibody partially inhibited the killing activities of LAK cells towards L929 cells and this inhibition was found in the combination of autologous tumor cells and PBL-LAK cells. These findings suggest the possibility that the mLT-related cytotoxicity is involved in the tumor cell killing mechanisms of TIL-LAK cells as well as PBL-LAK cells.     

Contamination of a bronchial fiberscope by mycobacteria linked to an automated bronchoscope disinfection machine

Mycobacteria are being isolated with increasing frequency from automated bronchoscope disinfection machines. This has led to misdiagnosis and nosocomial infections. In this study, we isolated Mycobacterium chelonae from a bronchoscope disinfection machine and found one strain to be resistant to 2% glutaraldehyde and sensitive to 70% ethanol. Since we began cleaning the sink of the machine with 70% ethanol, no mycobacteria has been seen throughout the machine.     

Multicentric infantile myofibromatosis with spontaneous regression

We report a patient with multicentric infantile myofibromatosis who showed remarkable regression of the lesions. This 7-month-old male was admitted for evaluation of generalized subcutaneous tumor nodules. A radiographic bone survey revealed radiolucent lytic areas in the skull, axis, rib, humerus, femur, ilium, and tibia that resembled a primary neoplasm with multiple metastases. An exisional biopsy, however, led to a diagnosis of infantile myofibromatosis. All the subcutaneous nodules regressed spontaneously within 1 year and 9 months. Correspondence to: Y. Yamaguchi     

Effect of dipyridamole on the blood flow in coronary aneurysms resulting from Kawasaki disease

Summary Dipyridamole has been widely used in Japan to treat patients with a coronary aneurysm resulting from Kawasaki disease, but its effect in these patients has not been established. In the present study we assessed the effect of dipyridamole on the coronary arteries of patients with a history of Kawasaki disease by measuring the diameter of the coronary arteries and by quantifying the disappearance time of contrast medium (runoff time) on coronary angiography. Intravenous injection of dipyridamole increased the diameter of nondilated arteries by 7.9%. Its effect on the diameter of dilated coronary arteries (coronary aneurysm) was less than 3% (p<0.01). Runoff time of dilated coronary arteries was significantly (p<0.01) greater than that of nondilated coronary arteries. Dipyridamole accelerated runoff time not only in nondilated coronary arteries (p<0.01) but also in coronary arteries with various degrees of dilatation (p<0.01). We conclude that dipyridamole increases blood flow in coronary arteries without dilating the proximal aneurysm in children with a history of Kawasaki disease.