Search PubMed⌕ Search

Biomedical subjects

G Nishimura

Publications and source records attributed to G Nishimura.

At least 91 records · Page 5Linked to original sources
PubMed1999

[Surgery for metastatic brain and spinal tumor from colorectal cancer].

UNLABELLED: The results of invasive treatment of brain metastasis of colorectal cancer (6 cases) and spinal metastasis of colorectal cancer (3 cases), aimed at alleviating the symptoms, were analyzed. In all 6 cases of brain metastasis, metastases were also found in some other remote sites (often the liver). The average period from resection of the primary lesion to resection of the brain metastasis was 3 years and 3 months for this group. Of these 6 cases, 5 had cerebral metastasis and 1 had cerebellar metastasis. The preoperative performance status (PS) was 1 in 1 case and 2 in 5 cases. After surgery, the PS improved in all 6 cases, allowing all the patients to be discharged. There was only one patient whose death was attributable to brain metastasis. In all 3 cases of spinal metastasis, metastases were also detected in the lungs or liver (synchronous in) 1 case, metachronous in 2 cases). The preoperative PS was 2 in 1 case, 3 in 1 case and 4 in 1 case. After surgery, the PS improved in 2 cases. One of the three patients is still alive. CONCLUSION: The results of this study suggest that it is not impossible to improve the QOL of patients with brain or spinal metastasis of cancer by surgical intervention, although the response may vary from patient to patient.

Brain Neoplasms↗
PubMed1998

Single-molecule analysis of restriction DNA fragments using fluorescence correlation spectroscopy.

The cleavage of fluorescence-labeled M13DNA (7250 bp) using HaeIII, HgaI, BsmAI, and BspMI was analyzed by fluorescence correlation spectroscopy (FCS) in a small volume (1.5 x 10(-15) liters). The digestion process can be monitored by the decrease in amplitude of the fluorescence correlation function while the original DNA molecule is divided into several fragments by the enzymes. To analyze this reaction by FCS, we derived a practical equation for estimating the number of molecules in the FCS measurements. Under standard enzymatic conditions, HaeIII and BsmAI digested fluorescence-labeled DNA to completion in the range of 8 h, whereas HgaI and BspMI digested the DNA after 40 h. The comparison of recognition sequences suggested that some tagged nucleotides could be inserted between the recognition site and the cleavage site of the slow enzyme group. The decrease in amplitude in the fluorescence correlation function quantitatively monitors the hydrolysis of DNA during the digestion process.

Base Sequence↗
PubMed1998

Previously undescribed spondyloepiphyseal dysplasia associated with craniosynostosis, cataracts, cleft palate, and mental retardation: report of four sibs.

We report on four Japanese sibs (three brothers and one sister) with a previously unreported syndrome of spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and mental retardation. Most clinical manifestations were evident neonatally, but skeletal changes and cataracts became substantial in early childhood. Radiological anomalies comprised coronal synostosis, mild epiphyseal dysplasia, particularly in the distal tibiae, strikingly delayed patellar ossification, mild metaphyseal splaying, hypoplastic ilia with iliac flare, and platyspondyly with ovoid-shaped or posteriorly humped vertebral bodies. The nonconsanguineous parents were mildly mentally retarded, and sibs of both gender were equally affected; thus, inheritance was likely autosomal recessive.

Abnormalities, Multiple↗
PubMed1998

A lethal osteochondrodysplasia with mesomelic brachymelia, round pelvis, and congenital hepatic fibrosis: two siblings born to consanguineous parents.

We report a hitherto unknown, lethal osteochondrodysplasia in two Japanese siblings born to consanguineous parents. The skeletal abnormalities are characterised by mesomelic brachymelia with bowed forearms, a round pelvis with shortened greater sciatic notches, an ossification defect of the pubic bones, and absence of ossification centers in the cervical vertebral bodies. The associated visceral anomalies comprised periportal fibrosis and cystic dysplasia of the intrahepatic bile ducts, pancreatic ductal ectasia, a simple renal cyst, microcephaly with multifocal laminar necrosis and ectopic gray matter, dysplastic tracheobronchial cartilage, abnormal lobulation of the lung, diaphragmatic hernia, and stenotic pulmonary valve. Thrombocytopenia was present but megakaryocytes were slightly increased in the bone marrow. The patients showed various dysmorphic features including aniridia, a long palpebral fissure, prominent nasal bridge, beaked nose, flat philtrum, low-set fleshy ears, micrognathia with submucosal cleft palate, and multiple joint contractures.

Abnormalities, Multiple↗
PubMed1998

A distinct subtype of "metatropic dysplasia variant" characterised by advanced carpal skeletal age and subluxation of the radial heads.

BACKGROUND: "Metatropic dysplasia variants" are a group of bone dysplasias whose skeletal abnormalities are similar to, but milder than, those of classical metatropic dysplasia. The genetic and phenotypic heterogeneity has not been thoroughly elucidated. OBJECTIVE: The objective was to designate a distinct subtype of these metatropic dysplasia variants. MATERIALS AND METHODS: The subjects were four Japanese patients, two sporadic cases and two siblings, who all had identical skeletal changes. The radiological features in these patients were compared with those of previously reported metatropic dysplasia variants. RESULTS: Moderate platyspondyly with pear-shaped and/or anterior-tongued vertebral bodies, halberd pelvis, and dumbbell deformity of the tubular bones were regarded as hallmarks of metatropic dysplasia variants. The peculiar skeletal change in our patients was advanced carpal skeletal age in childhood, unlike most patients reported as metatropic dysplasia variants who manifest delayed carpal ossification. Another hallmark was congenital dislocation of the radial heads. A description of a patient with similar skeletal changes was found in the literature. CONCLUSION: These patients are considered to represent a distinct subgroup of metatropic dysplasia variants. It remains unknown whether the present siblings represent an autosomal recessive trait or an autosomal dominant trait with germinal mosaicism related to increased paternal age.

Abnormalities, Multiple↗
PubMed1998

Osteogenesis imperfecta-like syndrome with severe mental retardation and extrapyramidal tract signs.

We report a girl with a unique combination of malformations, including recurrent fractures, mental retardation with extrapyramidal tract signs and minor facial abnormalities. Generalised osteoporosis with overtubulation of long bones was similar to that of osteogenesis imperfecta (OI). However, the short tubular bones were distinctively undertubulated and wormian bones were not found. Based on clinical, laboratory and neuroradiological examinations, it was less likely that bone fragility was attributable to disuse bone atrophy related to her physical handicap and the neurological abnormalities secondary to brain insult. She is presumed to have a previously undescribed OI-like syndrome.

Basal Ganglia Diseases↗
PubMed1998

Ischial hypoplasia, tibial hypoplasia and facial abnormalities: a new syndrome?

A child with facial abnormalities, short stature and a variety of skeletal alterations is reported. The facial abnormalities comprised low-set ears, short nose with a long philtrum, micrognathia and cleft palate. The skeletal alterations included ischial hypoplasia, malformations of the cervical spine, hypoplasia of the lesser trochanters, tibial hypoplasia with bowing of the lower legs, tibio-fibular diastasis with malformed distal tibial epiphyses, clubfeet and brachymesophalangy. The constellation of clinical and radiological findings in the present patient do not fit any known malformation syndrome.

Abnormalities, Multiple↗
PubMed1998

Spondyloepiphyseal dysplasia with accumulation of glycoprotein in the chondrocytes: spondyloepiphyseal dysplasia, Stanescu type.

OBJECTIVE: To clarify the phenotype in a bone dysplasia termed "spondyloepiphyseal dysplasia with accumulation of glycoprotein in the chondrocytes" by Stanescu et al. DESIGN AND PATIENTS: Subjects comprised two definitive cases of one family and one probable case of another family. Histologic examination in one patient warranted the diagnosis of the first family, whereas the diagnosis of the second family was based solely on clinical and radiologic grounds. RESULTS: Pedigrees revealed an autosomal dominant mode of transmission. All three patients shared painful large joints with joint restriction, progressive contracture with osseous expansion of the finger joints, and normal height despite the presence of a short trunk. Moderate platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and most characteristically, broad, elongated femoral necks with striking coxa valga were identical in all patients, but the patient of the second family showed severe brachydactyly unlike the other two patients. Histologic examination revealed PAS-positive, amylase-resistant intracytoplasmic inclusion bodies in the chondrocytes, corresponding to dilated rough endoplasmic reticulum filled with moderately electron-dense materials found by electron microscopy. CONCLUSION: The manifestations of our patients are sufficiently characteristic to constitute a distinct entity.

Adolescent↗
PubMed1998

Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia.

Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are common skeletal dysplasias with impaired enchondral ossification and premature degenerative joint disease. The two disorders were in the past considered to be distinct clinical entities; however, recent studies have proven that both diseases can result from mutations of the gene encoding cartilage oligomeric matrix protein (COMP). To characterize further COMP mutations and investigate phenotype-genotype relationships, we screened this gene in 15 patients with PSACH or MED by directly sequencing polymerase chain reaction products from genomic DNA. We identified ten mutations involving conserved residues among the eight calmodulin-like repeats of the gene product: seven were novel missense mutations in exons 9, 10, 11, 13 or 14, and the other three resulted from deletion of one of the five GAC repeats in exon 13. We have found that the GAC repeats in the 7th calmodulin-like repeat in exon 13 represent a hot-spot for mutation, and that mutations in the 7th calmodulin-like repeat produce severe PSACH phenotypes while mutations elsewhere in the gene exhibit mild PSACH or MED phenotypes. These genotype-phenotype correlations may facilitate molecular diagnosis and classification of PSACH and MED, and provide insight into the relationship between structure and function of the COMP gene product.

Achondroplasia↗
PubMed1998

A case of craniofacial dysmorphism, congenital heart defects, coccygeal skin folds, generalized skeletal alterations, and hemihypertrophy with linear skin hypopigmentation: a new syndrome?

The case of a Japanese girl with a unique combination of congenital malformations is reported. The malformations include craniofacial dysmorphism, congenital heart defects, coccygeal skin folds, generalized skeletal alterations, and hemihypertrophy with linear skin hypopigmentation that indicated somatic mosaicism of a mutated gene or a submicroscopic chromosomal aberration. The phenotype in our patient overlapped significantly with, but was not completely consistent with, that of ter Haar syndrome, a recently elucidated malformation syndrome with an autosomal recessive trait. The present patient may have represented a previously undescribed malformation syndrome, or an atypical manifestation of ter Haar syndrome due to somatic mosaicism.

Abnormalities, Multiple↗
PubMed1998

Joint laxity, vitreoretinal degeneration, facial abnormalities, and generalized skeletal alterations: a new syndrome?

A Japanese girl with a hitherto unknown combination of malformations is reported. The cardinal features included hyperextensibility of the joints, vitreoretinal degeneration with cataracts, and facial abnormalities, comprising hypertelorism, prominent eyes, downslanting of the palpebral fissures, mid-face recession with a short nose, deformed auricles, and microretrognathia with a high arched palate. Skeletal survey revealed multiple wormian bones, hypoplastic facial bones and mandible, narrow thorax with wavy ribs, narrow ilia, and coxa valga with slight broadening of the proximal femora, findings of which were individually minor, but the assemblage of which assisted in the syndromic identification. Although skin biopsy did not contribute to the causal clarification, it was tempting to speculate that the syndromic constellation of the present disorder resulted from an underlying defect of connective tissues.

Abnormalities, Multiple↗
PubMed1998

Cyclin D1 expression as a prognostic factor in advanced hypopharyngeal carcinoma.

Hypopharyngeal carcinoma (HPC) has a poor prognosis. We investigated the expression of cyclin D1 in 34 advanced HPCs, and the value of cyclin D1 expression was evaluated as a predictive marker in terms of the prognosis of HPC, compared with other clinical factors. Using immunohistochemical staining, 20 of 34 patients showed positive immunoreactivity for cyclin D1. The statistical trend of the survival rate was lower in the cyclin D1-positive patients than in the cyclin D-negative ones (p = 0.0805). The predictive factors for the survival rate were effectiveness of neo-adjuvant chemotherapy (F = 8.698) (p = 0.0066), cyclin D1 expression (F = 6.244) (p = 0.0191) and N classification (F = 5.037) (p = 0.0335). The cyclin D1-positive patients had approximately four-fold higher mortality than the cyclin D1-negative ones. These data indicate that the expression of cyclin D1, in advanced patients with hypopharyngeal carcinoma is a useful marker for prognosis.

Adult↗
PubMed1998

Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.

Spondylometaphyseal dysplasia (SMD) comprises a heterogeneous group of heritable skeletal dysplasias characterized by modifications of the vertebral bodies of the spine and metaphyses of the tubular bones. The genetic etiology of SMD is currently unknown; however, the type X collagen gene (COL10A1) is considered an excellent candidate, for two reasons: first, Schmid metaphyseal chondrodysplasia, a condition known to result from COL10A1 mutations, shows a significant phenotypic overlap with SMD; and, second, transgenic mice carrying deletions in type X collagen show SMD phenotypes. Hence, we examined the entire coding region of COL10A1 by direct sequencing of DNA from five unrelated patients with SMD and found a heterozygous missense mutation (Gly595Glu) cosegregating with the disease phenotype in one SMD family. This initial documented identification of a mutation in SMD expands our knowledge concerning the range of the pathological phenotypes that can be produced by aberrations of type X collagen (type X collagenopathy).

Child↗
PubMed1998

Variability of platyspondylic lethal chondrodysplasia: another case report.

We report the radiological and histological findings of another case of platyspondylic lethal chondrodysplasia. The patient was a girl, who died of respiratory failure at 18 days of age. The radiological changes comprised moderate platyspondyly with ovoid-shaped vertebral bodies, broad and short ilia, rhizomelic shortening and mild bowing of the long bones (particularly of the humeri), relatively long short tubular bones, and retarded epiphyseal ossification and ragged metaphyses, which were most similar to those of a mild variant of this entity, the Luton type. However, the histological findings of cartilage, including hypercellularity of the reserve zone with round resting chondrocytes, relatively normal column formation of the proliferative and hypertrophic zones, and incorporation of hypertrophic cartilage with a columnar arrangement into metaphyseal bony trabeculae, resemble those of a severe variant of this entity, the Torrance type. Our observation provides an insight into the phenotypic variabilities of platyspondylic lethal chondrodysplasia.

Fatal Outcome↗
PubMed1998

[Basic studies on IL-2 gene therapy for head and neck carcinoma].

Basic studies on transduction of the interleukin-2 (IL-2) gene into tumor cells were carried out in order to develop a new immunotherapy for head and neck carcinomas. We transduced the IL-2 gene into KB cells using defective herpes simplex viral (HSV) amplicon vector as the gene transfer vehicle. A high level of IL-2 was produced by IL-2 gene transduced KB cells (KB/IL-2). Human peripheral blood mononuclear cells (PBMC) cultured in medium containing the culture supernatant of KB/IL-2 cells showed stronger cytotoxic activity against KB cells than the control. In in vivo studies, high levels of IL-2 and interferon-gamma (IFN-gamma) were detected in the serum of nude mice transplanted with KB/IL-2 cells. The spleen cells of KB/IL-2 cell-transplanted nude mice exhibited high cytotoxic activity. Three of 5 nude mice transplanted with KB/IL-2 cells were completely cured of their tumor, and all 3 mice survived for over 120 days. All 5 nude mice transplanted with KB/lacZ cells, and all 5 nude mice transplanted with KB cells died within 120 days as a result of tumor progression. In conclusion, transduction of IL-2 gene tumor cells was corroborated by the high level of IL-2 produced by KB/IL-2 cells. The mechanisms of tumor rejection on KB/IL-2 transplanted nude mice were thought to be that effector cells stimulated by IL-2 derived from transplanted KB/IL-2 cells killed tumor cells, and IFN-gamma produced by activated NK cells showed a synergistic effect on tumor cells-killing.

Animals↗