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Biomedical subjects

K Matsuki

Publications and source records attributed to K Matsuki.

At least 73 records · Page 4Linked to original sources

Narcolepsy and HLA in the Japanese.

Narcolepsy is characterized by excessive daytime sleepiness and cataplexy. It had been reported that 100% of Japanese and Caucasian narcoleptic patients are HLA-DR2 and HLA-DQw1 positive; last year, however, exceptionally rare cases of DR2-negative narcolepsy were reported. Conversely, we tested 190 Japanese narcoleptic patients, and all were still DR2 and DQw1 positive. Among several symptoms in narcoleptic patients, HLA-DR2 showed the strongest association with cataplexy. Exclusive association has been demonstrated between narcolepsy and a specific band of EcoRI-digested DQ beta fragments. In this paper Taq I-digested genomic DNAs were hybridized with a DQ alpha probe, and five specific bands were observed to associate strongly with particular HLA-DR or D specificities. Interestingly, the 6.0-kb band was found in 100% of 28 narcoleptic patients and in 54% of DR2-positive normal control subjects. For the time being, HLA-Dw2 is the better marker of the HLA-associating narcoleptic gene than is DR2, DQw1, 2.4-kb band of EcoRI-digested DQ beta, and 6.0-kb band of Taq I digested DQ alpha, because the frequency of DW2 is the lowest in normal control subjects.

Blotting, Southern↗

Human leukocyte antigen in Sweet's syndrome and its relationship to Behçet's disease.

A 41-year-old man with Sweet's syndrome (SS) had symptoms similar to Behçet's disease (BD). To study the relationship of the two diseases, human leukocyte antigen (HLA) typing was performed on 28 patients with SS and 49 patients with BD. Of the 28 patients with SS, seven had BD symptoms. The frequencies of both HLA-B51 and -DQw3 were significantly higher in patients with BD. However, the frequencies of the two HLA antigens in the 28 patients with SS and the 21 patients with SS without BD symptoms were not significantly different from the controls. The frequency of HLA-Bw54 was significantly increased in both groups of patients with SS. Taken together, these data indicate that SS is a genetically distinct disease entity from BD, although their symptoms are similar and the incidence of SS among patients with BD is high in Japan.

Adult↗

A novel HLA class II alloantigen detected by an alloantiserum TK2.

An alloantiserum, TK2, obtained from a kidney transplant patient, was investigated. TK2 reacted with B lymphocytes that had only one detectable DQ antigen. DQ "blank" homozygous cell lines were positive for TK2, but DQwl, DQw2, and DQw3 homozygous cell lines failed to react with TK2. Positive reactions for TK2 segregated with DQ "blank" haplotypes in the families studied. The reactivity of TK2 to B lymphocytes was strong, while its reactivity to monocytes was very weak. When TK2 was absorbed with DQ "blank" cells, it became unreactive to other lymphocytes. TK2 blocked the binding of an anti-DQ monoclonal antibody to DQ "blank" cells. It did not affect the binding of the antibody to DQw1 and DQw3 cells, nor did it affect the binding of an anti-DR monoclonal antibody to a DQ "blank" cell line. These findings suggest that TK2 can detect a new HLA class II alloantigen that corresponds to a DQ "blank" specificity.

Antibodies, Monoclonal↗

HLA antigens in Behçet's disease with refractory ocular attacks.

HLA class I, II, and III antigens were studied in Japanese patients with Behçet's disease with refractory ocular attacks. In addition to the increased frequency of B51, DQw3, especially TA10-negative DQw3, was increased and DQw1 was decreased significantly in this subgroup of Behçet's disease. As for complement markers, C4A Q0 was increased. A rare variant of BF S07 was first observed in Japanese. Although the mechanism for the DQw3 association is obscure, a possible hypothesis is that an immune-response or immune-suppression gene linked to the DQ antigens modulates the disease severity and the efficacy of treatments.

Behcet Syndrome↗

Diagnostic criteria for narcolepsy and HLA-DR2 frequencies.

HLA-DR2 frequencies were investigated in Japanese patients with narcolepsy as defined by various diagnostic criteria. The DR2 frequency was 100% when our criteria for narcolepsy were employed. The use of other criteria that lacked cataplexy as an obligatory symptom, however, reduced the DR2 frequency and led to an apparent "discovery" of DR2-negative cases with "narcolepsy". This observation indicates the necessity of precise diagnostic criteria in research on the HLA-narcolepsy association.

Gene Frequency↗

Breast metastases of prostatic carcinoma: immunohistochemical case study.

A breast mass developed in a patient receiving estrogen therapy for prostatic cancer. The prostate tumor was adenocarcinoma of small acinar type, whereas that of the breast was infiltrating medullary adenocarcinoma. Histological features of the two tumors differed and double cancer was suspected by conventional pathological study. However, immunohistochemical staining with prostatic specific antigen and prostatic acid phosphatase was positive in each tumor. These results indicate the breast tumor to be a metastasis from the prostatic cancer.

Acid Phosphatase↗

Immunohistological study of two malignant lymphomas found as testicular tumors.

Immunohistological studies of two testicular lymphomas are reported. In the first case, lymphoma cells bear T-cell markers such as Leu-4 and Leu-3a, while they do not react with antibodies against B-cell markers such as anti-Leu-14. In the second case, lymphoma cells do not react with anti-T or anti-B cell antibodies, but react with antibodies against B-4, OKT9, and C 13 (anti-HLA-DR). Thus, it is shown that the first case is a lymphoma of helper/inducer T-cell origin and the second case is a pre-B-cell or pre-pre-B-cell lymphoma.

Aged↗

Inverted papillary carcinoma of the urinary bladder.

A 47-year-old man presented with an inverted papillary carcinoma of the urinary bladder. Cystoscopy revealed an approximately 2 cm mass, with a small stalk and smooth surface, which was situated just medial to the right ureteral orifice. Transurethral resection of the tumor was performed on July 25, 1983. Malignant changes were recognized in the epithelial cords in the resected specimen. This is in contrast to the general view that inverted papilloma of the urinary bladder is benign in nature. The authors believe that careful pathologic examination should be done when an inverted type tumor of the urinary tracts is found. No recurrence has been recognized as of September 11, 1987.

Carcinoma, Papillary↗

HLA-DR2 and Dw2 in narcolepsy and in other disorders of excessive somnolence without cataplexy.

Studies on HLA antigens were conducted in several patient populations with the following findings: (a) All 135 Japanese narcoleptic patients, eight of whom were considered to have "symptomatic" narcolepsy, were found to be HLA-DR2 and HLA-DQw1 positive. All 17 members of a subgroup of the original population were also found to be HLA-Dw2-positive. It was concluded that HLA-DR2 is a prerequisite for the development of narcolepsy and that the diagnosis of narcolepsy can be excluded if HLA-DR2 or HLA-Dw2 is negative. The distinction between idiopathic and symptomatic narcolepsy needs to be reconsidered. (b) Haplotype studies in three families with narcoleptic members enabled detection of children at high risk for narcolepsy. (c) Of the 54 patients with disorders of excessive daytime sleepiness other than narcolepsy, those with essential hypersomnia (EHS) had a higher frequency of HLA-DR2; the others had a lower frequency. The DR2-positive EHS group could include members with an incomplete form of narcolepsy; the DR2-negative EHS group had disorders essentially different from narcolepsy, although both positive and negative groups manifested hypnagogic hallucinations, sleep paralysis, and sleep onset REMs. Two further studies were conducted in subgroups of the original narcoleptic population studied. In a subgroup of 30 patients who underwent lymphocyte subset studies, no T-cell abnormalities were detected; it is unlikely that an autoimmune mechanism is involved in the development of narcolepsy. In a subgroup of 33 narcoleptic patients, Southern's blot analysis of DNA using a DQ beta probe revealed three specific restriction fragments. Further studies are necessary to locate the DNA locus that carries the susceptibility gene for narcolepsy.

Alleles↗

A possible split of antigen DQw1 identified by antiserum T3516.

One of the human class II antigens DQw1, which was officially recognized at the 9th International Histocompatibility Workshop in 1984, has a comparatively broad spectrum. One multiparous woman's serum was confirmed to have an antibody which shows a reaction pattern of short DQw1 or a split of DQw1. Our analysis was performed with a population study, two-dimensional gel electrophoresis and blocking experiment by monoclonal antibodies.

Antibodies↗

DR2 short antigen in Japanese. A strong association with Bw67 and TB23.

A variant of the DR2 antigen, DR2 short (DR2S), was investigated in Japanese subjects by using a 9th International Histocompatibility Workshop reagent and locally-obtained alloantisera. A significant positive association between DR2S, Bw67 and TB23 was demonstrated. Haplotype analysis on four Japanese families showed that DR2S was segregated with the A11-Cw7-Bw67-DR2S-DQw1-TB23 haplotype.

Genetic Variation↗