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Biomedical subjects

G Nishimura

Publications and source records attributed to G Nishimura.

At least 145 records · Page 8Linked to original sources

Shwachman syndrome associated with de novo reciprocal translocation t(6;12)(q16.2;q21.2).

We describe a de novo apparently balanced reciprocal translocation t(6;12)(q16.2; q21.2) in an 18 month old girl with Shwachman syndrome, characterised by exocrine pancreatic insufficiency and bone marrow dysfunction. The cause of this syndrome is unknown, although autosomal recessive inheritance has been proposed. The translocation breakpoints in the present patient may be candidate regions for a gene responsible for Shwachman syndrome.

Abnormalities, Multiple↗

[Correlation between the expression of urokinase-type plasminogen activator, E-cadherin and malignancy in gastric cancer].

We aim to elucidate the correlation between clinicopathological parameters and uPA and ECD expression in gastric cancer. Some 125 patients with primary gastric cancer, who were treated at the Second Department of Surgery, Kanazawa University, between 1988 and 1993, were enrolled in this study. The expression of uPA and ECD was evaluated by immunohistochemical staining using a anti-uPA and an anti-ECD monoclonal antibody. The nuclear DNA contents were measured by flow cytometry. Among 125 tumors, 42 (34%) were found to have preserved ECD expression (ECD (+)), and 83 (66%) reduced ECD expression (ECD (-)). uPA immunoreactivity was observed in 82 (65%) of 125 tumors. According to the expression of uPA and ECD status, groups of 22 uPA (-)/ECD (+), 21 uPA (+)/ECD (+), 17 uPA (-)/ECD (-) and 65 uPA (+)/ECD (-) were identified. There was a significant correlation between uPA (+)/ECD (-) status and depth of invasion, liver metastasis, peritoneal dissemination, lymph node metastasis, and venous invasion. Patients with uPA (+)/ECD (-) tumors showed the poorest prognosis and the highest rate of recurrence, as compared with the other groups of patients. No significant correlations were found between uPA (+)/ECD (-) status and DNA ploidy patterns, and histological type. Immunohistochemical analysis of the combination of uPA and ECD expression could be a useful method for the evaluation of metastasis and prognosis in gastric cancer patients. Our results indicate that uPA may have an important role in cancer infiltration and ECD in cancer infiltration and metastasis.

Cadherins↗

Osteodysplastic primordial dwarfism: a case with features of type II.

We describe a 22-month-old Japanese girl with severe microcephaly with a prominent nose and a receding chin, developmental delay, marked intrauterine and postnatal dwarfism with limb shortening and brachydactyly, and distinctive radiological changes of the skeleton. The radiological findings include hypoplasia of the short tubular bones, multiple pseudoepiphyses in the bases of the metacarpals, coxa valga, a wide pelvis with iliac flaring, thoracolumbar scoliosis, and disharmonious ossification delay. The clinical and radiological features are somewhat different from those of previously reported cases with osteodysplastic primordial dwarfism. The clinical and radiological manifestations of osteodysplastic primordial dwarfism are reviewed and compared with those in our patient.

Dwarfism↗

Colovesical fistula due to sigmoid colon diverticulitis: a case report.

We present a case of colovesical fistula due to sigmoid colon diverticulitis. A 63-year-old woman was referred to our department with the complaints of dysuria, turbid and foul smelling urine. She was treated twice for acute cystitis at the referral hospitals. A diagnosis of colovesical fistula was confirmed on barium enema. She underwent partial resection of sigmoid colon with primary anastomosis and partial cystectomy with repair of bladder wall and covered with omentum. Retrograde cytography taken on the 20th post-operative day revealed no leakage of contrast medium. She was asymptomatic at 3 months of follow-up.

Diverticulitis↗

Lymph node metastasis and surgical management of gastric cancer invading the esophagus.

In 88 resected patients with esophagus-invading gastric cancer, the factors determining the prognosis of this disease were investigated by multivariate analysis. Neither, age, sex, macroscopic type, thoracotomy, nor histological type proved to be independent prognostic factors. The presence or absence of lymph node metastasis, serosal invasion, tumor size, and the extent of esophageal invasion were found to be significant independent prognostic factors. Among lymph node metastases, involvement of para-aortic lymph nodes was especially important. The prognosis was significantly better in cases in which these nodes were carefully dissected (R4 gastrectomy), than in cases in which selected dissection was performed (R2). However, no patient with mediastinal lymph node metastasis survived for any lengthy period, and thus the mediastinal lymph nodes seemed to be nodes, the dissection of which brought little effect. Postoperative results were very poor in cases in which the extent of the esophageal invasion was 3 cm or more. These patients should be treated with multi-modal therapy such as neoadjuvant chemotherapy.

Adenocarcinoma↗

[Effect of chemotherapy using irinotecan (CPT-11) against recurrent colorectal cancer].

Irinotecan (CPT-11) is a camptothecine derivative with antitumor activity and inhibitor of DNA topoisomerase I. CPT-11 showed a excellent and broad anticancer activity against several malignant tumors. In this study, as in the Japanese phase II study, CPT-11 was administered at 100 mg/m2 weekly by intravenous infusion against 10 patients with recurrent colorectal cancer. Median total dose was 513 mg. Partial responses were obtained in 4/10 patient (40%). Lung metastases showed a 33.3% response and lymphnode metastases showed a 60% response. However, liver metastases showed no response. The median duration to the onset of partial response was 20 days and the median overall response duration was 89 days. Adverse effects were leukopenia (40%), nausea, vomiting and diarrhea (80%), fever (20%), and general malaise (30%). These were generally well tolerated and reversible. From these results, CPT-11 seemed to become an effective drug for recurrent colorectal cancer. Further trials of combination chemotherapy utilizing CPT-11 seem to be warranted.

Adult↗

Radiological changes of frontometaphyseal dysplasia in the neonate.

The radiological manifestation of frontometaphyseal dysplasia has been well elucidated in later childhood and adulthood, but it has not been thoroughly clarified in the neonate. Here we report the radiological features of a neonate with frontometaphyseal dysplasia. Most features, including twisted ribs, increased interpediculate distances of the lumbar spine, flared ilia, mildly flared and bowed long bones, and arachnodactyly with undermodeled short tubular bones, were reminiscent of those found in older children and adults. A previously undescribed abnormality was advanced ossification of the femoral and tibial epiphyses.

Abnormalities, Multiple↗

Another family with tricho-rhino-phalangeal syndrome type III (Sugio-Kajii syndrome).

Tricho-rhino-phalangeal syndrome Type III (TRPS III) is a newly defined genetic entity. Only 9 patients in a family and one sporadic patient have been reported. We add another family in which 4 individuals in 3 generations are affected with this autosomal dominant trait. Although they manifested short stature, sparse hair, "pear-shaped" nose, and cone-shaped epiphyses, sharing these findings with TRPS Type I, the presence of a severe form of generalized shortness of all phalanges and metacarpals, and the absences of mental deficiency and exostoses in this family distinguish the disorder from the TRPS Types I and II. Their manifestations are quite similar to those of the patients reported as TRPS III (Sugio-Kajii syndrome).

Abnormalities, Multiple↗

Japanese type of spondylo-metaphyseal dysplasia.

Five members of a Japanese family with a new form of spondylo-metaphyseal dysplasia (SMD) are reported. Another member was also probably affected. The disease was characterised by severe coxa vara, moderately severe metaphyseal changes of the long bones of the lower limbs, mild changes in the long bones of the upper limbs and grossly normal short tubular bones. Platyspondyly, present in the boys, was less marked in their father, whereas two affected aunts had normally shaped vertebral bodies.

Adult↗

[Successful neoadjuvant chemotherapy in a patient with advanced gastric cancer with multiple liver metastases].

We described a case of advanced gastric cancer with multiple liver metastases, who was placed on neoadjuvant chemotherapy using CDDP and 5-FU (FP therapy) with a marked reduction in tumor load. The case was a 67-year-old male, who was admitted with a Borrmann III type advanced gastric cancer with multiple liver metastases. FP chemotherapy was carried out two times as neoadjuvant chemotherapy. As a result, both primary cancer and the metastatic tumors showed a remarkable reduction. Then, total gastrectomy with combined resections of spleen and transverse colon was done, and a reservoir was inserted into the hepatic artery. Postoperatively, intrahepatic arterial infusion of CDDP with oral administration of 5-FU was done in the outpatient clinic for about eleven months. But thirteen months later, he died from the rapid recurrence of the tumor.

Adenocarcinoma↗

Osteosclerotic metaphyseal dysplasia.

A new sclerosing bone disease in two Japanese siblings born to first-degree cousin parents is reported. Clinically the disease is characterized by early developmental delay, hypotonia and later spastic paraplegia. The unique radiographic changes consist of peripheral osteosclerosis affecting predominantly metaphyses of the long bones and to a lesser degree ends of the ribs and clavicles, iliac crests, acetabulae, ischio-pubic synchondroses and vertebrae. The epiphyses are sclerotic in early life. The round bones, short tubular bones and the skull are little affected. The shafts of the tubular bones are osteopenic. Increased serum alkaline phosphatase was the only laboratory abnormality detected. We suggest the name "osteosclerotic metaphyseal dysplasia" for this disorder.

Adolescent↗