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H Ida

Publications and source records attributed to H Ida.

160 records · Page 9Linked to original sources
PubMedDate not supplied

Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation.

In patients originally genotyped as homoallelic for the Gaucher disease (GD) L444P (1448C) mutation, we sought to confirm previously reported phenotypic differences between Caucasians and Japanese, to determine the prevalence and phenotypic impact of recombinant alleles, and to explore the phenotypic influence of genetic background. We therefore analyzed data from longer-term clinical follow-up, more comprehensive genotyping and polymorphism and mitochondrial DNA (mtDNA) testing in all known Japanese L444P homozygotes (n=15). Our studies demonstrated that, of 12 patients in our series originally diagnosed with non-neuronopathic GD, 9 developed neurological signs/symptoms during follow-up (at a mean of 14 years 11 months +/- 11 years 4 months). Of three patients originally diagnosed with acute neuronopathic (type 2) GD, all three were compound heterozygotes for L444P and the complex allele RecNci I. In the entire series, Pvu II and liver erythrocyte pyruvate kinase (PKLR) polymorphism and prevalence of the 9 bp mtDNA deletion were heterogeneous, and these background genetic factors could not predict phenotypic expression. Our data suggest that, in Japanese as in Caucasian patients, the L444P/L444P genotype is highly associated with subacute neuronopathic (type 3) GD, and the presence of a complex allele together with an L444P allele leads to type 2 disease. Our findings also underline the importance of comprehensive genotyping (particularly testing for recombinant alleles), long-term follow-up and careful neurological examination in patients with early-onset GD. Such measures ultimately may improve genotype/phenotype correlations and, with them, genetic counseling and therapeutic decision making.

Adult↗
PubMedDate not supplied

Pathological and biochemical studies of fetal Krabbe disease.

Morphological and biochemical analysis of tissue from a 21-week-old fetus with Krabbe disease was performed. Galactosylceramidase activity was virtually absent in cultured amniotic cells obtained during the pregnancy of this fetus. The prenatal diagnosis was confirmed by enzymatic analysis of fetal cultured skin fibroblasts and by enzyme analysis of fetal brain, kidney and liver. The galactocerebroside content of brain and spinal cord of the affected fetus was essentially identical to that observed in an age-matched control fetus. Accumulation of galactosylsphingosine was found in all tissues examined from the fetus with Krabbe disease. The highest galactosylsphingosine level was detected in spinal cord of the affected fetus: it was 40 times the concentration observed in controls. The occurrence of inclusion bodies were limited to spinal cord of the fetus with Krabbe disease. These data verify that the pathological and biochemical findings of Krabbe disease are present during the second trimester of pregnancy.

Brain↗
PubMedDate not supplied

The nonnarcotic antitussive drug dimemorfan: a review.

The antitussive dimemorfan phosphate was discovered through extensive screening of morphinic derivatives and was introduced in Japan in 1975. The majority of studies on dimemorfan have been published in Japanese, and this review aims to make these data more generally available. The antitussive action of dimemorfan appears to be directly on the cough center in the medulla. Dimemorfan does not induce any significant physical or psychologic dependence, and its antitussive action is not affected by the opioid-receptor blocker levallorphan. Dimemorfan is therefore considered a nonnarcotic antitussive. Studies of antitussive effects in animal models indicate that dimemorfan is up to three times more potent than codeine and is equivalent to dextromethorphan. Three major comparative clinical trials and postmarketing surveillance studies showed that dimemorfan is equally or slightly more efficacious than dextromethorphan, benproperine phosphate, or placebo for the control of coughing. Several animal and clinical studies have confirmed the efficacy and safety of dimemorfan. Dimemorfan was effective in the majority of patients. In contrast to the narcotic antitussives, dimemorfan caused no serious problems with the digestive system, such as constipation and disorders of the bile duct, caused no dependence or tolerance, and was unlikely to have clinical analgesic effects. Minor side effects, such as loss of appetite, nausea, and drowsiness, were seen in less than 10% of patients. A syrup formulation of dimemorphan that retains its efficacy and safety is also available. Overall, these data indicate that dimemorfan is an effective nonnarcotic antitussive agent with a low incidence of adverse events.

Animals↗
PubMedDate not supplied

A case of IgG4-related autoimmune disease with multiple organ involvement.

A 52-year-old male was admitted with autoimmune pancreatitis (AIP), showing mononuclear cell infiltration in both the pancreas and salivary glands with both normal sialography and anti-SS-A/SS-B antibodies. Although the AIP improved with glucocorticoid treatment, subsequent abdominal computed tomography (CT) revealed a nodular shadow in the bilateral kidneys, which was confirmed as interstitial nephritis by renal biopsy. The patient's serum immunoglobulin G4 (IgG4) level was 10 times higher than the upper limit of the normal range. IgG4-positive mononuclear cell infiltration was detected in the salivary gland, pancreas, and kidney. A new entity proposed as 'IgG4-related autoimmune disease' was considered.

Autoimmune Diseases↗
PubMedDate not supplied

Imprint cytology of Gaucher's disease presenting as a splenic mass. A case report with molecular approaches.

BACKGROUND: Gaucher's disease is an autosomally transmitted lysosomal storage disease caused by a defect in the lysosomal enzyme, beta-glucosidase. CASE: A 43-year-old male presented with splenomegaly and anemia. Magnetic resonance imaging examination of the abdomen revealed huge, round masses in the spleen. Intraoperative cytology of the spleen showed Gaucher cells that resembled macrophages, with eccentric, small, oval nuclei, but distinguished by their abundant cytoplasm with the characteristic "wrinkled tissue paper" appearance. The cytologic features of the smears correlated well with the histologic sections from the splenectomized specimen. The DNA from this patient was examined for seven glucocerebrosidase mutations that are known to cause Gaucher's disease. The patient was heterozygous for the 754 mutation. Diagnosis was confirmed by a deficiency of beta-glucosidase. The residual activity was 15% of control values. CONCLUSION: Diagnosis of Gaucher's disease was made cytologically and subsequently confirmed by the polymerase chain reaction. Imprint cytology is a sensitive diagnostic test, and the combined use of histology and molecular techniques offers the highest probability of identifying this common lysosomal storage disorder.

Adult↗
PubMedDate not supplied

Occult retinal pigment epithelial detachment in hyperviscosity syndrome.

We document and evaluate a serous retinal detachment in a patient with hyperviscocity syndrome. Optical coherence tomographic images of the serous retinal detachment in a patient with hyperviscocity syndrome were correlated with slit-lamp biomicroscopic findings, fundus photographs, fluorescein angiograms, and indocyanine green angiograms. Fluorescein angiography demonstrated venous and capillary bed abnormalities but no leakage or pooling of fluorescein corresponding to the retinal pigment epithelial detachment (PED) beneath the serous retinal detachment. Indocyanine green angiogram disclosed a delay of intrachoroidal circulation. Optical coherence tomography (OCT) revealed a large retinal pigment epithelial detachment beneath the serous retinal detachment. The occult retinal PED beneath the neurosensory retinal detachment was detected only by OCT in a patient with hyperviscosity syndrome. We suggest that gamma globulin, which is the hyperviscosity material, accumulated in the subretinal pigment epithelial space and blocked the leakage or pooling of fluorescein corresponding to the retinal pigment epithelial detachment.

Diagnosis, Differential↗
PubMedDate not supplied

The role of peroxynitrite in cyclooxygenase-2 expression of rheumatoid synovium.

OBJECTIVE: Reactive oxygen intermediates play an important role in the inflammatory processes of rheumatoid arthritis. Cyclooxygenase-2 is an inducible form of an enzyme involved in prostanoid biosynthesis. This study linked peroxynitrite (ONOO-) to the signaling pathways that induce COX-2. RESULTS: Exposure of rheumatoid synovial cells to peroxynitrite resulted in COX-2 protein expression in a dose-dependent manner. RT-PCR analysis also demonstrated that COX-2 mRNA was induced in peroxynitrite-treated rheumatoid synovial cells. Dexamethasone markedly inhibited this peroxynitrite-mediated COX-2 expression at therapeutic concentrations. CONCLUSION: This study demonstrates that oxidant stress is an important inducer of COX-2 in rheumatoid synovium. This induction may contribute to the amplification of prostanoids in the rheumatoid inflammatory process.

Arthritis, Rheumatoid↗
PubMedDate not supplied

Clinical outcome and survival of secondary (AA) amyloidosis.

OBJECTIVE: In order to predict the clinical outcome of secondary (AA) amyloidosis patients with rheumatic diseases, we studied the clinical features at presentation of AA amyloidosis. METHODS: We investigated the clinical characteristics and survival of 42 patients with biopsy-proven AA amyloidosis who were followed up in our department from 1983 to 2001. RESULTS: A presenting factor which adversely influenced clinical outcome was a raised serum creatinine concentration at the time AA amyloidosis was diagnosed. Eight of 42 patients survived for 10 years or more after the presentation of AA amyloidosis, while 24 patients had died within 10 years. At the diagnosis of AA amyloidosis, cardiac involvement was detected in 11 of 24 non-survivors, whereas it was not detected in any of the 8 long-term survivors. Estimated survival at 5 years was 31.3% in those who had cardiac involvement, and was 63.3% in those who had no cardiac involvement at the presentation of AA amyloidosis. CONCLUSION: Our results indicate that clinical outcome is related to renal function and cardiac involvement at the time AA amyloidosis is diagnosed. Amyloid-related cardiac involvement is one of the unfavorable predictive factors in AA amyloidosis patients.

Adult↗