Pyruvate dehydrogenase deficiency caused by a four-nucleotide insertion in the E1 alpha subunit gene.
Explore the source record for details and available documents.
Biomedical subjects
Publications and source records attributed to J Matsuda.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
The efficacy of KRN8601 for neutropenia associated with HIV infection was evaluated in 24 patients. KRN8601 was infused intravenously at a dosage of 200 micrograms/m2 for 14 consecutive days. Neutrophil counts recovered in 19 (90.5%) out of 21 evaluable patients by KRN8601 treatment. The concomitant myelosuppressive agents for the treatment of HIV infection and complications could be continued without dose reduction in 15 (88.2%) out of 17 patients. The clinical improvement was observed in 66.7% (12/18) of patients who were treated with anti-microbial agents for opportunistic infections which indicates that KRN8601 shows an additive effect on infections when it was given with anti-microbial agents. Adverse events and abnormal laboratory findings were observed in 3 and 7 patients, respectively, and they were reversible and tolerable. This study demonstrated that KRN8601 improved neutropenia with HIV infection, made possible to continue the full dose of myelosuppressive treatments and have additive effect on the treatment of secondary infections.
We measured serum 2,5-oligoadenylate synthetase (2,5-AS) levels and soluble interleukin-2 receptor (sIL-2R) levels in human immune deficiency virus type 1 (HIV-1)-positive and HIV-1-negative hemophiliacs in order to clarify the clinical significance of these parameters in hemophiliacs. Serum 2,5-AS levels were measured by a radioimmunosorbent assay, and sIL-2R levels were measured by an enzyme-linked immunosorbent assay. The mean serum 2,5-AS levels were higher in AIDS-related-complex and AIDS patients, asymptomatic carriers, and HIV-1-negative hemophiliacs than in hepatitis C virus-positive patients and healthy controls. Serial determinations showed that the 2,5-AS levels tended to increase in HIV-1-positive patients, especially those with AIDS-related complex or AIDS, although it showed a substantial decrease in the terminal stage. The serum sIL-2R levels were higher in HIV-1-positive patients, HIV-1-negative patients, and hepatitis C virus-positive patients than in controls. Serial studies showed little change in the HIV-1-positive and HIV-1-negative groups, although sIL-2R levels showed a tendency to decrease with zidovudine treatment. On the basis of the present results, we may well conclude that 2,5-AS and sIL-2R are not specific markers for hemophiliacs with HIV-1 infection. However, serial measurement of these markers can still be useful for assessing the progression of AIDS and the prognosis for patients with AIDS, as well as for monitoring the response to zidovudine.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
We investigated whether or not antiphospholipid antibodies (aPLs; antiphosphadidylserine antibody, aPS; antiphosphatididylinositol antibody, aPI; antiphosphatidic acid antibody, aPA, and antiphosphadidylethanolamine antibody, aPE) were beta 2-glycoprotein-I (GPI)-dependent antibodies like anticardiolipin antibody (aCL) in patients with systemic lupus erythematosus (SLE). None of the patients with syphilis or healthy controls was positive for any GPI-dependent aPL. By contrast, GPI-dependent aCL (40%), aPS (20%), aPI (18%), aPA (12%) and aPE (8%) were detected in patients with SLE. Among these, 4 patients were negative for aCL, but positive for aPS. Those who were positive for more than 2 types of aPL, along with lupus anticoagulant, had a high incidence of arteriovenous thrombosis, fetal loss, thrombocytopenia and biological false-positive reaction to syphilis. From these findings we conclude that GPI-dependent aPLs, other than aCL, are present in patients with SLE, and we should examine more than 2 types of aPL, such as a combination of aCL and aPS, to avoid overlooking aPL. Furthermore, we confirmed that GPI-independent aPL was not rare in SLE patients, but the clinical significance of this type of aPL in this clinical setting is unclear.
We examined the phylogenetical correlation between two types of JC virus (JCV) isolates, archetypes derived from the urine of nonimmunocompromised individuals and PML-types derived from the brain of patients with progressive multifocal leukoencephalopathy (PML) in Japan. A phylogenetic tree was constructed for eight JCV isolates, five PML-types obtained in this and previous studies and three representative archetypes, from DNA sequence data on the VP1 (major capsid protein) gene. The eight isolates were divided into two major groups, named subtypes MY and CY after the representative archetypal isolates. Four of five PML-type isolates belonged to subtype MY, and the other one to subtype CY. Isolates belonging to subtype MY were further divided into two groups; one group containing archetype MY and three PML-types and the other one containing archetype YI and a PML-type. These findings, together with those in our previous study that correlated various JCV isolates in the world provide evidence for the hypothesis that JCVs associated with PML may have been generated from archetypal JCVs persisting in the patients.
From December 1989 to September 1992, nine patients with impotence were instructed to perform intracavernous self-injection of vasoactive drugs. At first 40 mg of papaverine hydrochloride was used in all patients and the response on erection was evaluated. If the response did not show sufficiently functional erection, a mixture of 40 mg of papaverine hydrochloride and 1 mg of phentolamine mesylate or 20 mg of prostaglandin E1 was reinjected. Eight patients had achieved full erections and vaginal penetrations without noteworthy complications during the follow-up period. Out of eight patients, three patients were able to ejaculate and one patient showed recovery of erection. No major side effects were seen. In conclusion, intracavernous self-injection is a useful modality for impotence.
Explore the source record for details and available documents.
Since the first case report of acquired immunodeficiency syndrome (AIDS) in patients with hemophilia from our department in 1994, we have treated more than 60 hemophiliacs infected with human immunodeficiency virus type-1 (HIV-1). During this decade, we have found and reported some useful laboratory-test markers for predicting the development of AIDS and the due course in this clinical setting. Furthermore, we realized through our study that HIV-1 infection may be a disease mimicking an autoimmune disease. Herein, these topics will be discussed, including the newly developed automated anti-HIV-1 antibody test system.
Congenital deficiency of antithrombin III (AT III), a physiological inhibitor of blood coagulation, may lead to increased thromboembolism. Here, we report a case of multiple thromboembolism associated with congenital AT III deficiency. The diagnosis of systemic thromboembolism was made by 111In-labeled platelet scintigraphy (In-scan) which allowed for the daily assessment of thromboemboli size. Thromboemboli were found not only in sites predicted clinically, but also in unexpected sites. In these patients, thus, a careful whole-body examination is necessary for full detection of thromboemboli. In-scan may be a useful technique for such screening.
We investigated whether anticardiolipin antibody (aCL), which is common in patients with end-stage renal disease (ESRD), was dependent on beta 2-glycoprotein I (GPI), a cofactor of aCL. Lupus anticoagulant (LA) was identified in 13/39 hemodialysis (HD) patients. GPI-independent aCL was positive in 12/39 of this group, five of whom had both GPI-independent aCL and LA. Three of the 20 patients on symptomatic and supportive treatment other than HD had LA, but none of them were aCL positive. When GPI was added to the assay system to allow for GPI-dependent aCL measurement, the optical density (OD) readings of 10/12 HD patients decreased, thus proving that they were negative for aCL. In contrast, the OD readings of 6 control patients with systemic lupus erythematosus (SLE) increased markedly (3/6) or decreased slightly to moderately (3/6), however, within the limits of positive range, indicating GPI-dependent cCL positivity. These results suggested that LA and GPI-independent aCL were produced in ESRD patients, especially those on HD, possibly through mechanisms related to the hemodialysis membrane. However, the significance of GPI-independent aCL in this clinical setting, which may differ from the GPI-dependent aCL detected in SLE patients, as well as the possible participation of serum GPI in the production of aCL remain to be clarified.
Explore the source record for details and available documents.
In several solanaceous plants, hyoscyamine is first hydroxylated at the 6 beta-position, and then epoxidized to scopolamine. We expressed hyoscyamine 6 beta-hydroxylase (H6H) in Escherichia coli as a fusion protein with maltose-binding protein. The crude cell extract from the bacterium that expressed the soluble fusion protein showed a strong hydroxylase activity and a weak epoxidase activity. When 100 microM of hyoscyamine was fed to the recombinant bacterium, the alkaloid was first converted to 6 beta-hydroxy hyoscyamine, and then to scopolamine, which was almost the only alkaloid found in the culture after one week. Therefore, H6H catalyzes two consecutive reactions that oxidize hyoscyamine to scopolamine.
Explore the source record for details and available documents.
Explore the source record for details and available documents.