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Biomedical subjects

S Abe

Publications and source records attributed to S Abe.

At least 379 records · Page 21Linked to original sources
PubMed1997

Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.

The DAX-1 [DSS (dosage sensitive sex)-AHC critical region on the X, gene 1] gene is responsible for X-linked adrenal hypoplasia congenita (AHC). However, DAX-1 protein structure-function relationships are not well understood. Identification of missense mutations may help to reveal these relationships. We analyzed the DAX-1 gene from seven patients in six kindreds with X-linked AHC and identified one frameshift mutation, two missense mutations, and three deletion mutations. Case 1 had a 388delAG frameshift mutation, inducing a premature stop codon at position 70. Case 2 had a missense mutation, Lys382Asn, which encodes an asparagine (Asn) for lysine (Lys) at position 382. Sibling cases of 3-1 and 3-2 had a missense mutation of Trp291 Cys, which encodes a substitution of cysteine (Cys) for tryptophan (Try) at position 291. The tryptophan (Trp) at position 291 and lysine (Lys) at position 382 in human DAX-1 protein are highly conserved among other related orphan nuclear receptor superfamily members. Cases 4, 5, and 6 showed deletion mutation. In case 6, a de novo deletion mutation was revealed by both southern hybridization and polymerase chain reaction (PCR) of a GGAA tetranucleotide tandem repeat. These findings suggest that: 1) Trp at position 291 and Lys at position 382, located in the C-terminal presumptive ligand binding domain, are important to the functional role of the DAX-1 protein in adrenal embryogenesis and/or in hypothalamic-pituitary activity; and 2) molecular analysis of the DAX-1 gene may help genetic counseling, even in cases with deletion mutation, because a detection of de novo deletion may exclude another affected or carrier child.

Adrenal Insufficiency↗
PubMed1997

Infrequent mutation of Waf1/p21 gene, a CDK inhibitor gene, in brain tumors.

Possible mutations of the Waf1/p21 gene, a cyclin-dependent kinase (CDK) inhibitor gene, were investigated in biopsy specimens of 28 brain tumors using polymerase chain reaction (PCR)-single strand conformation polymorphism and nucleotide sequence analysis. There were 15 astrocytic tumors, six medulloblastomas, five pineal parenchymal tumors, and two neuroblastomas. A mutation was detected in exon 2, which comprises 90% of the cording region including the CDK inhibitory domain, in only two samples. A missense mutation was detected at codon 33 in rare PCR clones from an astrocytic tumor and a silent mutation was detected at codon 35 in a medulloblastoma. Therefore, mutation of the Waf1/ p21 gene is infrequent in these brain tumors. Examination of deoxyribonucleic acid (DNA) from normal subjects and paired DNA of brain tumor patients observed a polymorphism at codon 31, which encodes either Ser (AGC) or Arg (AGA).

Adolescent↗
PubMed1997

[Single photon emission computed tomography in the diagnosis of Alzheimer's disease].

Studies with single photon emission computed tomography (SPECT) have shown temporoparietal (TP) hypoperfusion in patients with Alzheimer's disease (AD). We evaluated the utility of this findings in the diagnosis of AD. SPECT images with 123I-iodoamphetamine were analyzed qualitatively by a rater without knowledge of the subject's clinical status. Sixty-seven of 302 consecutive patients were judged as having TP hypoperfusion by SPECT imaging. This perfusion pattern was observed in 44 of 51 patients with AD, in 5 with mixed dementia, 8 with cerebrovascular disease (including 5 with dementia), 4 with Parkinson's disease (including 2 with dementia), 1 with normal pressure hydrocephalus. 1 with slowly progressive aphasia. 1 with progressive autonomic failure, 2 with age associated memory impairment, and 1 with unclassified dementia. The sensitivity for AD was 86.3% (44 of 51 AD), and the specificity was 91.2% (229 of 251 non-AD). Next, we looked for differences in perfusion images between patients with AD and without AD. Some patients without AD had additional hypoperfusion beyond TP areas: deep gray matter hypoperfusion and diffuse frontal hypoperfusion, which could be used to differentiate them from the patients with AD. Other could not be distinguished from patients with AD by their perfusion pattern. Although patients with other cerebral disorders occasionally have TP hypoperfusion, this finding makes the diagnosis of AD very likely.

Adult↗
PubMed1997

Study on optimal fat content in total parenteral nutrition in partially hepatectomized rats.

In order to investigate the optimal fat content for total parenteral nutrition (TPN) solutions, male Wistar rats were subjected to 70% hepatectomy and then placed, for five days, on one of five TPN regimens in which fat represented 0%, 10%, 20%, 30% and 40%, respectively, of the total calorie content. As serum triglyceride levels in the fat-treated groups were lower than those in the non-treated normal rats, it was concluded that the administered fat was sufficiently hydrolyzed. The greater the fat content, the higher the regeneration rate of the remnant liver. Significant differences were found between the 0%-fat group and 20%-plus fat groups. Hepatic triglyceride level was significantly lower in the 20%-fat group. Hepatic protein level was significantly elevated in all fat-treated groups. Serum phospholipids and total cholesterol due to the lecithin contained in fat emulsion were significantly elevated in the 30 and 40%-fat groups, indicating that fat content of 30 and 40% was excessive. The results suggest that TPN containing fat is superior to fat-free TPN for liver regeneration after partial hepatectomy, and that optimal fat content is estimated to be about 20% of total calorie content in the case of this fat emulsion.

Animals↗
PubMed1997

BE-32030 A, B, C, D and E, new antitumor substances produced by Nocardia sp. A32030.

New antitumor substances, designated BE-32030A, B, C, D and E, were isolated from the culture broth of Nocardia sp. A32030. The active principles were extracted from the mycelium by methanol and purified by Sephadex LH-20 and reversed-phase column chromatographies and finally by reversed-phase HPLC. BE-32030A, B, C, D and E inhibited the growth of P388 murine leukemia, DLD-1 human colon cancer, PC-13 human lung cancer and MKN-45 human stomach cancer cell lines.

Animals↗
PubMed1997

[A case report of anterior mediastinal cystic lymphangioma].

Fourty seven years old woman came to our hospital for further examination of incidentally found abnormal chest shadow. Chest US examination revealed lobulated cystic mass. The cyst wall was thin and smooth. Chest computed tomography showed water density cystic mass. Preoperative diagnosis was pericardial cyst. Operation was done. Lobulated cyst was attached to pericardium and diaphragma. Though adhesion to the pericardium was loose, adhesion to the diaphragma was tight. To achieve complete resection of the cyst, partial resection of the diaphragma was needed. Postoperative course was uneventful. Cystic lymphangioma is benign but complications such as infection or bleeding were reported. Then complete resection of the cyst should be done.

Female↗
PubMed1997

[Molecular biological prognostic markers in lung cancer].

Recent advance in cell-molecular biological studies have revealed various prognostic factors in lung cancer. The aim of this paper is to critically review the current status of molecular biological prognostic markers in non-small cell lung cancer. DNA ploidy, AgNORs and PCNA as marker of tumor cellular proliferative activity are reported to be a prognostic marker but still remain controversial. The proteases such as uPA, MMPs and CB catalyze degradation of the extracellular matrix and basement membranes. Although the prognostic implications of the uPA and MMPs still remain unclear, cathepsin B appears to be one of the most useful prognostic markers so far reported for non-small cell lung cancer. In a number of studies, genetic abnormalitis has been reported to be a prognostic marker in cancer patients. In non-small cell lung cancer, the prognostic implication of the altered p53 expression or ras p21 expression still remain unclear, especially p53 is conflicting. The most useful clinical prognostic marker may be obtained by the combined analysis of some prognostic information.

Biomarkers, Tumor↗
PubMed1997

Subclinical Fabry's disease occurring in the context of IgA nephropathy.

A 28-year-old male patient with both IgA nephropathy and an unusual case of Fabry's disease has been followed for 10 years. Diagnosis of both these diseases was made by histological examination of renal biopsy tissues and the enzyme activities of alpha-galactosidase A. Serial biopsies revealed the hithertofore unrecognized process of glomerular glycolipid accumulation peculiar to Fabry's disease at the initial stages of the disease. Physical examinations and routine laboratory analyses failed to show significant signs of Fabry's disease throughout the 10-year period. While alpha-galactosidase A activity is markedly decreased in the plasma of this patient as in classical Fabry hemizygotes, the activity in leukocytes and culture fibroblasts showed a considerable residual activity. Fabry's disease associated with IgA nephropathy apparently is extremely rare, and the present subclinical case is unique in that the early stages of substrate accumulation are demonstrable.

Adult↗
PubMed1997

[Treatment of pathological fractures caused by metastatic bone cancer].

The diagnosis of metastatic bone cancer is usually easy but in some cases the metastatic lesion is found before primary lesion is diagnosed. In such cases, the diagnosis is essential before treatment is begun. For these cases, bone scintigraphy and MRI are useful. Since curative treatment for metastatic bone cancer is impossible in most cases, it is important to decide the purpose of the treatment before starting. The aims are elongation of the life, decrease of pain, recovery from paralysis, attainment of stability, treatment and prophylaxis of the pathological fracture, and improvement of QOL. As for treatment of the pathological compression fracture of the spine combined with paralysis, the decompression operation should be done as early as possible, because at 48 hours after the paralysis is completed, recovery can not be expected even if complete decompression is performed. The decompression operation is performed with complete resection of the affected vertebrae anteriorly and then by rigid fixation with instrumentation posteriorly. As for the treatment of the pathological fracture of the extremities, in most cases operative treatments are indicated. Most pathological fractures of the extremities occur in the femur and humerus. In case of a proximal femur and humerus, wide excision of the tumor combined with the affected bone is performed, and the defect is then replaced with the prosthesis. When the shaft of the bone is affected, segmental resection of the bone is done in most cases and the defect is then replaced with ceramics and bone cement and fixed with intramedullary nails.

Bone Cements↗
PubMed1997

[The alteration of PyNPase activity in breast cancers due to preoperative oral administration of 5'-DFUR].

To estimate the alteration of pyrimidine nucleoside phosphorylase (PyNPase) activity by 5'-DFUR, we determined its activity in the breast tissue of two patient groups. Group A (21 patients) were given 5'-DFUR (mean 9,000 mg) preoperatively, and group B (21 patients) were given no anticancer agents. There were no significant differences between the groups in background factors such as age, clinical stage and pathological features. Comparison of PyNPase activity in both groups among specimens of carcinoma, normal breast glands and lymph nodes revealed that the activity in carcinomas and lymph nodes was significantly higher than in normal breast glands. Comparison of group A with group B showed that group A had lower activity in carcinomas and lymph nodes than in group B, although the difference was not significant. An inter-group comparison of carcinomas was made in detail by subgrouping according to age and pathological features. In group B, PyNPase activity in older patients (> or = 50 y.o) was significantly higher than in younger patients (< 50 y.o), and papillotubular carcinomas had significantly lower activity than solid tubular and scirrhous carcinomas. However, in group A these data could not be determined. These results suggest that PyNPase activity in group A was possibly decreased by 5'-DFUR.

Administration, Oral↗
PubMed1997

[Lung lobar volume in patients with chronic interstitial pneumonia].

We measured lung lobar volume by using helical computed tomography (HCT) in 23 patients with idiopathic interstitial pneumonia (IIP), 7 patients with chronic interstitial pneumonia associated with collagen vascular disease (CVD-IP), and 5 healthy volunteers. HCT scanning was done at the maximal inspiratory level and the resting end-expiratory level. To measure lung lobar volume, we traced the lobar margin on HCT images with a digitizer and calculated the lobar volume with a personal computer. The lower lobar volume and several factors influencing it in chronic interstitial pneumonia were studied. At the maximal inspiratory level, the lower lobar volume as a percent of the whole lung volume was 46.8 +/- 4.13% (mean +/- SD) in the volunteers, 39.5 +/- 6.19% in the patients with IIP, and 27.7 +/- 7.86% in the patients with CVD-IP. The lower lobar volumes in the patients were significantly lower than in the volunteers. Patients with IIP in whom autoantibody tests were positive had lower lobar volumes that were very low and were similar to those of patients with CVD-IP. These data suggest that collagen vascular disease may develop in patients with interstitial pneumonia. The patients with IIP who had emphysematous changes on the CT scans had smaller decreases in total lung capacity and lower ratios of forced expiratory volume in one second to forced vital capacity than did those who had no emphysematous changes, those two groups did not differ in the ratio of lower lobar volume to whole lung volume. This suggests that emphysematous change is not factor influencing lower lobar volume in patients with chronic interstitial pneumonia. We conclude that chronic interstitial pneumonia together with very low values for lower lobar volume may be a pulmonary manifestation of collagen vascular disease.

Chronic Disease↗
PubMed1997

[Pathologic diagnosis on bone and soft tissue tumors by molecular biological methods].

Characteristic chromosome aberrations and the rearranged genes resulting in chimeric fusion genes have been reported in some bone and soft tissue tumors; t(X; 18) in synovial sarcoma, t(11; 22) in Ewing's sarcoma and primitive neuroectodermal tumor, and t(2; 13) in alveolar rhabdomyosarcoma. We practically used the chromosome analysis and the reverse transcription-polymerase chain reaction (PCR) method as a tool for diagnosis and follow up. All of 10 cases of synovial sarcoma had a chimeric product of SYT/SSX gene. Eleven cases of Ewing's sarcoma and primitive neuroectodermal tumor showed 6 variants of chimeric products between EWS gene and Fli1 gene in the PCR-directed sequence analysis. Although PAX3/FKHD or PAX7/FKHD transcripts were amplified in alveolar rhabdomyosarcoma cases, MyoD1 and myogenin gene which are myogenic transcription factor were also expressed in most rhabdomyosarcomas. These findings indicate that molecular biological analysis may be a useful supplementary method for pathologic diagnosis of bone and soft tissue tumors.

Adolescent↗
PubMed1997

[Preeclampsia].

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Female↗
PubMed1997

[Analysis of pulmonary manifestations in patients with rheumatoid arthritis].

We studied chest X rays of 911 patients with rheumatoid arthritis (RA). The findings showed interstitial shadow in 28 patients (3.1%), pleuritis in 13 patients (1.4%) and nodular shadow in 3 patients (0.3%). RA patients with interstitial pneumonia were commonly male and older. And they had significantly high levels of rheumatoid factor (RF), RAPA and IgG-RF in serum, but they were not associated with high score of Lansbary index. All patients with more than 1500 IU/ml in RF value had a complication of interstitial pneumonia. These results suggest the importance of chest X-ray in the management of RA patients with high titer in RF.

Aged↗
PubMed1997

Calcitonin gene-related peptide (CGRP) and hypertrophy of cardiomyocytes.

We studied whether calcitonin gene-related peptide (CGRP), a neuropeptide secreted from the sensory nervous supply to the myocardium, induces hypertrophy of cardiomyocytes in culture. CGRP increased the cell surface area of neonatal rat cardiomyocytes; the surface area of the cells was almost doubled by treatment with CGRP for 48 h. Furthermore, CGRP up-regulated mRNA expression for skeletal alpha-actin and atrial natriuretic peptides, which are genetic markers for cardiac hypertrophy. These results indicate that CGRP is a potent hypertrophic factor for cardiomyocytes.

Animals↗
PubMed1997

Internal structure of the temporomandibular joint and the circumferential bone: comparison between dentulous and edentulous specimens.

To clarify changes in the trabecular structure due to loss of the teeth, the author compared soft X-ray images and morphological measurement values of the mandibular condyle and articular eminence between dentulous and edentulous specimens. The center of the skull base containing the temporomandibular joint was removed along the Frankfort horizontal and median sagittal planes. A block in the center of the cranial base was rejected using the Frankfort horizontal plane and median sagittal plane as references. The specimens were embedded in polyester resin by the routine method. The hardened specimens were horizontally cut into 500 microns sections and photographed using soft X-ray films. Soft X-ray of each section was taken for observation by naked eye and morphometry by computer. Observation of the compact bone in the articular eminence showed thinner compact bone on the posterior slope of the articular eminence, which is a functional plane, than on the anterior slope of the articular eminence. There was a trabecular bone group on the lateral area running from the compact bone on the posterior surface of the articular eminence into the zygomatic arch and a thick trabecular bone group in a network pattern on the medial area. In the central area of the mandibular condyle, spongy bone was surrounded by oval compact bone, and the internal trabecular bone ran anteromedially in nearly the same pattern as the arrangement of the lateral pterygoid muscle. At all sites, the density, width, extent, and index indicating the complexity of the trabecular bone had higher values in dentulous specimens than in edentulous specimens.

Aged↗
PubMed1997

Anatomical study of the pectoral branch of thoracoacromial artery.

Reconstructive surgery uses various musculocutaneous flaps following resection of head and neck malignant tumor. Numerous anatomical studies have reported that the thoracoacromial artery arises from the axillary artery, but those findings have not been completely confirmed. The aim of this study was to investigate the path from the origin of the thoracoacromial artery until its pectoral branches enter the pectoralis major muscle. The following results were obtained. 1. There were no cases in which the thoracoacromial artery arose from the third part of the axillary artery. 2. There were differences between the left and right sides in the vertical and horizontal origins of the thoracoacromial artery in relation to the clavicle and median line. 3. Pectoral branches showed a single origin from the thoracoacromial artery most frequently. 4. Pectoral branches descend in parallel to the median line most frequently on the right side and descended medially to the median line most frequently on the left side. 5. The largest number of branches approached the venter vertically at the height of the third rib. There findings suggest that, during operations involving a musculocutaneous flap, the surgeon must pay attention to the differences in vascular morphology of the right and left sides.

Aged↗