PubMed Health⌕ Search

Biomedical subjects

Y Hase

Publications and source records attributed to Y Hase.

At least 37 records · Page 2Linked to original sources
PubMed1993

Rubinstein-Taybi Syndrome with thymic hypoplasia.

We report the autopsy findings in a 20-month-old boy with Rubinstein-Taybi syndrome and DiGeorge sequence. No visible thymus was demonstrated at the time of autopsy. With careful microscopic examination, a few pieces of thymic tissues found near the thyroid gland showed remarkable depletion of both thymocytes and cortical epithelial cells. Immunohistological staining with T-cell surface antigens resulted in a definite positive reaction. Repeated respiratory infections present in this patient may, in part, be attributable to thymic hypoplasia. Other major anomalies included broad thumbs and great toes, microphthalmia, arrhinencephaly, patent ductus arteriosus, stenosis of the ureterovesicular junction, bilateral cryptorchidism, and minor facial anomalies.

DiGeorge Syndrome↗
PubMed1993

Four novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns [corrected].

Ornithine transcarbamylase deficiency (OTC), the most common inborn error of the urea cycle, shows an X-linked inheritance with frequent new mutations. Southern blots reveal only a small percent of the mutation, but amplification of cDNA or genomic DNA using the polymerase chain reaction (PCR) followed by DNA sequencing, has contributed greatly to overcoming this difficulty. Problems remaining are the limited availability of fresh liver samples for preparation of intact mRNA in the former case, and there are primer sequences for PCR for only some exons in the latter case. Here, we report the structures of intron sequences which are long enough to analyze all exons and adjacent introns of the OTC gene using PCR and PCR single-strand conformation polymorphisms (PCR-SSCP). We carried out a DNA analysis of findings in five Japanese male patients with neonatal or late onset form. Five patients had mutations in the protein coding region. C to G (S192R), A to T (D196V), A to G (T264A), T to C (M268T), and C to T (R277W) substitutions. The first four of these were novel missense mutations and the presence of the mutation was confirmed in the corresponding families.

Asian People↗
PubMed1992

Frequency and distribution of phenylketonuric mutations in Orientals.

The frequency and distribution of eight mutations (R111X, IVS4nt-1, Y204C, R243Q, IVS7nt-2, W326X, Y356X, and R413P) in the phenylalanine hydroxylase gene of Orientals in Japan and Korea were examined by allele-specific oligonucleotide hybridization. The mutant alleles comprised 54 and 55% of the phenylketonuria (PKU) chromosomes examined in 36 patients in Japan and 10 patients in Korea, respectively. The spectrum of PKU mutations in Japan was similar to that in China, particularly in northern China, but different from that in Korea. The IVS4nt-1 mutation had a high frequency in Korea and southern China, due to the result of the founder effect and genetic drift. The R413P mutation, which may have originated in the regions surrounding the Baikal, expanded to northern China and Japan. We did not find Caucasian mutations in the Japanese or Korean PKU chromosomes. Thus, PKU mutations occurred after racial divergence between Caucasians and Mongoloids, and there were different founding populations for PKU in the two populations.

Alleles↗
PubMed1991

Primary alveolar soft-part sarcoma of stomach.

A case of primary gastric alveolar soft-part sarcoma is presented. The tumor was found in the gastric remnant of a 67-year-old male who had undergone partial gastrectomy due to hemorrhagic gastric ulcer 13 years before. It was located mostly in the submucosa arising from the muscularis propria. The large eosinophilic cells showed the characteristic alveolar compartmentalization and contained intracytoplasmic periodic acid-Schiff-positive granules and typical crystals. Numerous electron-opaque secretory granules in the tumor cell cytoplasm, in addition to crystals of 9 nm periodicity, were confirmed at the ultrastructural levels. Immunostaining failed to detect muscle-related antigens. In contrast, methionine-enkephalin and neuropeptide Y appeared positive in the tumor cells. Interstitial spindle cells showed an occasional positivity to S-100. This is the first case of such a tumor occurring in the gastrointestinal tract, and the findings suggest that gastric alveolar soft-part sarcomas may have a different origin from those arising in the skeleton.

Aged↗
PubMed1990

[Experimental and clinical study on injection of neocarzinostatin into the duodenal sub-serosa as chemotherapy for the regional lymphatic system in pancreatoduodenal cancer].

UNLABELLED: At the time of pancreatoduodenal cancer resection, Neocarzinostatin (NCS) was injected into the duodenal sub-serosa, as perioperative adjuvant chemotherapy for metastatic lymph nodes and cancer cells released into the lymphatic system. NCS content in the lymph nodes was measured after administration, and usefulness of the chemotherapy was investigated. EXPERIMENT: NCS (4,000 units) was administered into the duodenal sub-serosa of 18 adult mongrel dogs. NCS contents in the lymph nodes (those in the root of the mesentery and around the aorta) and pancreatic tissues were measured. NCS content in the pancreatic tissues decreased significantly 3 hours after administration, while that in the lymph nodes did not decreased even 3 hours later. Consequently, NCS is considered to be remain in the lymph nodes. CLINICAL FINDINGS: NCS (10,000 units) was administered into the duodenal sub-serosa in 18 resectable cases of pancreatoduodenal cancer. NCS content in the dissected lymph nodes was measured. The total number of dissected lymph nodes was 176, and the mean NCS content was 0.62 mu/g. The number of lymph nodes positive for metastasis was 14, and much content of NCS was observed in the specimens (mean NCS content: 1.25 mu/g). Examination according to site revealed the most content in the lymph nodes in pancreatic head closest to the site of administration, followed by the lymph nodes in the root of the mesentery and those in the hepatoduodenal ligament in the direction of lymphatic flow. Moreover, some distal lymph nodes also showed much content. NCS content in the lymph nodes showed time-related increase after administration, and significant correlation was observed within 2 hours.(ABSTRACT TRUNCATED AT 250 WORDS)

Aged↗
PubMed1989

[Enzyme immunoassay of 17-hydroxyprogesterone in dried blood spot on filter paper using specific antibody for 17-hydroxyprogesterone].

Specific antiserum for 17-hydroxyprogesterone (17-OH-P) was prepared by immunizing 7 alpha-(2-carboxyethylthio)-17-OH-P conjugated bovine serum albumin (BSA) in rabbits. Using this antiserum, 17-OH-P enzyme immunoassay for dried blood spots on filter paper was established. As a label, alkaline phosphatase was coupled covalently with 7 alpha-carboxy-methylthio-17-OH-P by carbodiimide method. B/F separation was carried out by the addition of anti-rabbit IgG goat antiserum. All specimens used were punched out with a paper puncher of 3mm diameter. The assay sensitivity was 2pg/tube, which was estimated by two standard deviation at zero concentrations of the calibration curve. Cross reactivities of this antibody were as follows: 11-deoxycortisol (8.21%), 17-OH-pregnenolone (3.33%), progesterone (1.67%), 11-deoxycorticosterone (0.31%), cortisol (0.16%), pregnenolone-3-sulfate Na salt (0.03%), dehydroepiandrosterone (DHEA) (less than 0.03%), 16 alpha-OH-DHEA (less than 0.03%), DHEA-3-glucuronide (less than 0.03%), DHEA-3-sulfate Na salt (less than 0.03%), pregnenolone (less than 0.02%). Intra- and inter-assay coefficient of variations were 4-14% and 9-18%, respectively. In normal babies, 17-OH-P concentrations measured directly (without sample extraction) were below 23pg/disk (n=204). The histogram of 17-OH-P level in normal babies obtained by the direct method was distributed lower than that obtained by the enzyme immunoassay system (range: 4-79pg/disk, n=268) which used antibody raised against 17-OH-P-3-O-carboxymethyloxime conjugated BSA (Enzaplate, Sapporo Diagnostic Laboratory).(ABSTRACT TRUNCATED AT 250 WORDS)

17-alpha-Hydroxyprogesterone↗
PubMed1989

Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in Asian families with phenylketonuria (PKU).

DNA polymorphisms at the phenylalanine hydroxylase (PAH) locus have proved highly effective in linkage diagnosis of phenylketonuria (PKU) in Caucasian families. More than 10 RFLP sites have been reported within the PAH structural locus in Caucasians. With information from affected and unaffected offspring in PKU families it is often possible to reconstruct complete RFLP haplotypes in parents and to use these haplotypes to follow the segregation of PKU within families and to determine the distribution of PKU chromosomes within populations. To establish the utility of these RFLPs in characterizing Asian families with PKU, we typed eight DNA sites in 21 Chinese families and 12 Japanese families with classical PKU. The eight RFLPs were chosen for their informativeness in Caucasians. From these families we reconstructed a total of 91 complete PAH haplotypes, 44 from non-PKU chromosomes and 47 from PKU-bearing chromosomes. Although all eight marker sites are polymorphic in both Chinese and Japanese, there is much less haplotypic variation in Asians than in Caucasians. In particular, one haplotype alone, haplotype 4, accounts for more than 77% of non-PKU chromosomes and for more than 80% of PKU-bearing chromosomes. Haplotype 4 is also relatively common in Caucasians. The next most common Asian haplotype is 10 times less frequent than haplotype 4. By contrast, in many Caucasian populations the sum of the frequencies of the five most common haplotypes is still less than 80%, and several of the most common haplotypes are equally frequent. Even though the extent of haplotypic variation in Asians is severely limited, the few haplotypes that are found often differ at a number of RFLP sites.(ABSTRACT TRUNCATED AT 250 WORDS)

Alleles↗
PubMed1988

Triacylglycerol lipase-mediated release of arachidonic acid for renal medullary prostaglandin synthesis.

The effect of triacylglycerol lipase or triarachidonin on the synthesis of prostaglandin E2 in rabbit kidney medulla slices was examined. Prostaglandin E2 generation was enhanced by exogenous triacylglycerol lipase, indicating that arachidonic acid released from medullary triacylglycerols is readily available for prostaglandin biosynthesis. Triarachidonin stimulated prostaglandin E2 production in a dose-dependent manner. Moreover, the kidney medulla slices showed triacylglycerol lipase activity using trimargarin as substrate. The addition of mepacrine made the stimulatory effect of triarachidonin on prostaglandin E2 formation more pronounced. Studies utilizing EGTA and p-bromophenacyl bromide revealed that triacylglycerol lipase of kidney medulla is independent of Ca2+ and sensitive to a sulfhydryl inhibitor. These results suggest the presence of triacylglycerol lipase and triacylglycerol as a possible candidate for providing free arachidonic acid to cyclooxygenase in kidney medulla.

5,8,11,14-Eicosatetraynoic Acid↗
PubMed1987

[Intra-operative administration of neocarzinostatin into the duodenal subserosa and levels found in the regional lymph nodes in pancreato-duodenal cancer].

UNLABELLED: As an intraoperative chemotherapy treatment for the regional lymph nodes in resectable cases of pancreatoduodenal cancer, Neocarzinostatin (NCS) was administered in the duodenal subserosa and the NCS concentration was measured in the resected lymph nodes. EXPERIMENTS: NCS 4,000 units (n = 4), or 10,000 units (n = 4) was administered into the duodenal subserosa of mongrel dogs, and 2 hours after administration, the lymph nodes of the mesentery root were resected. The NCS concentration in the lymph nodes was 0.21 U/g in the 4,000-U group and 1.39 U/g in the 10,000-U group. CLINICAL FINDINGS: NCS 10,000 U was administered into the duodenal subserosa in 6 cases of pancreatoduodenal cancer. The total number of resected lymph nodes was 49 and the mean NCS concentration was 5.65 U/g. According to site, the highest concentration was measured in lymph nodes from the anterior and posterior region of the pancreas head, which were near to the administration site. Also, NCS was well distributed in the lymph nodes in the hepatoduodenal ligament and mesentery root which lay in the direction of lymph flow. NCS concentration was high in lymph nodes resected 1 hour after administration. According to experimental reports of in vitro studies, an NCS concentration of more than 0.5 U/g is required to obtain an anticancer effect. This method is therefore considered to be useful as a form of intraoperative chemotherapy for the regional lymph nodes in pancreatoduodenal cancer.

Animals↗