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Biomedical subjects

Y Fukuyama

Publications and source records attributed to Y Fukuyama.

At least 37 records · Page 2Linked to original sources
PubMed2000

Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy.

In typical Fukuyama congenital muscular dystrophy (FCMD), peak motor function is usually only unassisted sitting or sliding on the buttocks, though a few patients are able to walk at some point. However, a few patients have a severe phenotype and never acquire head control. In addition, it is clinically difficult to differentiate this severe FCMD from Walker-Warburg syndrome (WWS) or from muscle-eye-brain disease (MEBD). In order to establish a genotype-phenotype correlation, we performed haplotype analysis using microsatellite markers closest to the FCMD gene (FCMD) in 56 Japanese FCMD families, including 35 families whose children were diagnosed as FCMD with the typical phenotype, 12 families with a mild phenotype, and 9 families with a severe phenotype. Of the 12 propositi with the mild phenotype, 8 could walk and the other 4 could stand with support; 10 cases were homozygous for the ancestral founder (A-F) haplotype whereas the other 2 were heterozygous for the haplotype. In the 9 severe cases, who had never acquired head control or the ability to sit without support, 3 had progressive hydrocephalus, 2 required a shunt operation, and 7 had ophthalmological abnormalities. Haplotype analysis showed that 8 of the 9 cases of the severe phenotype are heterozygous for the A-F haplotype, and the other one homozygous for the haplotype. We confirmed that at least one chromosome in each of the 56 FCMD patients has the A-F haplotype. The rate of heterozygosity for the A-F haplotypes was significantly higher in severe cases than in typical or mild cases (P < 0.005). Severe FCMD patients appeared to be compound heterozygotes for the founder mutation and another mutation. Thus, the present study yielded molecular genetic evidence of a broad clinical spectrum in FCMD.

Brain↗
PubMed2000

Evaluation of p53 alterations in occult lymph node metastases.

BACKGROUND AND OBJECTIVES: This study was designed to evaluate p53 alterations in occult lymph node metastases. METHODS: We examined 41 patients with stage I non-small-cell lung cancer. We investigated p53 gene mutation by polymerase chain reaction and single-strand conformation polymorphism analysis of exons 5-8, p53 protein accumulation by immunostaining with monoclonal antibody DO-7, and detection of tumor cells in lymph nodes by immunohistochemistry with monoclonal antibodies to cytokeratin (CK). RESULTS: p53 gene mutation was detected in 34% of tumors and nuclear p53 accumulation in 46%. CK-positive cells in the hilar and mediastinal region lymph nodes were detected in 43.9% of patients and 29.3%, respectively. Of the 14 cases with p53 mutation and the 19 cases with p53 accumulation, 12 and 15 had micrometastases in the hilar or mediastinal lymph nodes, respectively. However, p53 alterations were not significantly associated with occult lymph node metastases. In cases with occult lymph node metastases, the 5-year survival was 81. 9% for the p53 wild-type group and 45.8% for the p53 mutation group. CONCLUSIONS: p53 alterations are not correlated with occult lymph node metastases, while p53 gene mutation is considered to be an unfavorable prognostic marker in patients with occult lymph node metastases. J. Surg. Oncol. 2000;73:143-147.

Aged↗
PubMed2000

Direct influences of pro-inflammatory cytokines (IL-1beta, TNF-alpha, IL-6) on the proliferation and cell-surface antigen expression of cancer cells.

Pro-inflammatory cytokines, e.g. interleukin 1 (IL-1), tumour necrosis factor alpha (TNF-alpha), IL-6 produced by surgical intervention or non-specific immunotherapy may directly affect both the growth and the metastasis of tumour cells. It is therefore important to clarify the direct influence of pro-inflammatory cytokines on tumour cells in order to obtain a better knowledge of anti-tumour therapy. Four human lung cancer cell lines were used. The tumour cells were incubated for 72 h in the presence of various concentrations of IL-1beta, TNF-alpha, or IL-6 and then the proliferative response was assessed by an MTT assay. After 14 days of culture with each pro-inflammatory cytokine, the cell-surface antigen expressions (HLA-class I, HLA-class II, CEA, sialyl Lewis(x)) were assessed by an immunocytochemical staining method. Among the various combinations of tumour cells (PC-9, PC-12, QG-56, QG-95) and cytokines (IL-1beta, TNF-alpha, IL-6), only TNF-alpha significantly exhibited an antiproliferative effect against PC-9 cells. However, various modulations of the cell-surface antigen expression by the cytokines were observed. The HLA-class I antigen expression of PC-9 was augmented by either TNF-alpha or IL-1beta. Furthermore, IL-1beta was able to induce CEA in PC-9, QG-56, and QG-95 cells while TNF-alpha was able to enhance the expression of sialyl Lewis(x)in QG-95 cells. Although the influence of pro-inflammatory cytokines on the growth of tumour cells was only slight, some modulations of the cell-surface antigen expression were notable. The augmentation of HLA-class I expression can thus improve the immunogenicity of tumour cells while the induction of CEA or sialyl Lewis(x)may therefore be associated with the promotion of metastasis.

Adenocarcinoma↗
PubMed2000

Herbertane-type sesquiterpenoids from the liverwort Herbertus sakuraii.

Seven herbertane-type sesquiterpenoids, 1,13-dihydroxyherbertene, 1,14-dihydroxyherbertene, 1,15-dihydroxyherbertene, 12-methoxyherebertene-1,2-diol, herberteneacetal, herbertenone A and herbertenone B were isolated from the Japanese liverwort Herbertus sakuraii, together with four known herbertane- and three dimeric herbertane-type sesquiterpenoids and ent-pimara-8(14),15-dien-19-oic acid. Their structures were elucidated by spectroscopic methods. H. sakuraii is chemically similar not only to H. aduncus but also to the Mastigophora species.

Plants↗
PubMed2000

seco-Prezizaane-type sesquiterpenes from Illicium merrillianum.

Four seco-prezizaane sesquiterpene lactones, 14-O-n-butyrylfloridanolide, 3,4-dehydrofloridanolide, 3,6-dideoxy-10-hydroxypseudoanisatin, and 2-O-n-butyrylpseudomajucin were isolated from the pericarps of Illicium merrillianum. Their structures were determined by spectroscopic methods.

Magnetic Resonance Spectroscopy↗
PubMed2000

Genetic heterogeneity in three Chinese children with Fukuyama congenital muscular dystrophy.

Three Chinese patients, two boys and one girl, were afflicted with the typical clinical, myopathological and neuroradiological findings of Fukuyama congenital muscular dystrophy (FCMD). Polymorphism analysis of our patients did not reveal the founder haplotype (138-192-147-183 in D9S2105-D9S2170-D9S2171-D9S2107) of Japanese FCMD, even though one patient was descended from Japanese ancestry. Full mutational analysis of the fukutin gene revealed that there is neither 3 kb insertion nor point mutation. These findings suggest genetic heterogeneity between Chinese and Japanese FCMD patients.

Child↗
PubMed2000

Two new meliacarpinins from the roots of Melia azedarach.

Two new azadirachtin-type limonoids, 1-methacrylyl-3-acetyl-11-methoxymeliacarpinin (1) and 1-(2-methylpropanoyl)-3-acetyl-11-methoxymeliacarpinin (2), together with the known compounds, meliacarpinin D (3), melianin B (4) and 2 beta,3 beta-dihydroxy-5 alpha-pregn-17(20)-(Z)-en-16-one (5), were isolated from the roots of Melia azedarach. The structures of 1 and 2 were elucidated by analysis of spectroscopic data and comparison of their NMR data with those of 3. Compounds 1 and 5 exhibited significant activity in the brine shrimp lethality test (BST).

Animals↗
PubMed2000

Three new sesquiterpene lactones from the pericarps of Illicium merrillianum.

Structures of three new sesquiterpene lactones 1-3, isolated from the pericarps of Illicium merrillianum, have been assigned as 14-O-benzoylfloridanolide, 2,10-epoxy-3-dehydroxypseudoanisatin and 7-O-methylpseudomajucin on the basis of spectroscopic data and chemical transformation. The structure of 2, having an ether linkage between C-2 and C-10, has been confirmed by X-ray crystallographic analysis.

China↗
PubMed2000

[Validity of various obesity indices calculated from height and weight in adult females using the underwater-weighing method as a reference].

We evaluated association between excess percent body fat (%Fat) and various obesity indices calculated from height and weight in 322 adult females. %Fat was measured by the underwater-weighing method, and obesity indices were based on the following 5 methods; Broca-Katsura method (Katsura method), Kato-Wataya method (Kato method), Japan Society for the Study of Obesity method (BMI method; based on the body weight at which BMI is 22), Meiji Life Insurance Co. method, and Table and Figure for the Assessment of Obesity and Leanness by the Ministry of Health and Welfare (MHW method). %Fat was 30% or more (obese) in 73 females (22.7%), 25-30% in 97 (30.1%), 20-25% in 88 (27.3%), and less than 20% in 64 (19.9%). The correlation coefficient between the obesity indices and %Fat were 0.71 for the Katsura method, 0.70 for the Kato-method, 0.72 for the BMI method, 0.70 for the Meiji Life Insurance Co. Method, and 0.63 for the MHW method, being significant for all methods (P < 0.01). When the cut-off point was set as 110% for each obesity index, sensitivity was the highest for the Katsura method (67.1%), and specificity was the highest for the Meiji Life Insurance Co. method (95.2%). Receiver operating characteristic (ROC) curves were similar in figure for the Katsura method, Kato-method, BMI method, and Meiji Life Insurance Co. method. For the MHW method, however, the curve was slightly farther from the point of sensitivity of 100% and 1-specificity of 0% than the others. Excess fat accumulation could not be accurately assessed by the obesity indices calculated from body height and weight. Validity was similar among the obesity indices except for the MHW method.

Adult↗
PubMed1999

Somatostatin induces hyperpolarization in pancreatic islet alpha cells by activating a G protein-gated K+ channel.

Somatostatin inhibits glucagon-secretion from pancreatic alpha cells but its underlying mechanism is unknown. In mouse alpha cells, we found that somatostatin induced prominent hyperpolarization by activating a K+ channel, which was unaffected by tolbutamide but prevented by pre-treating the cells with pertussis toxin. The K+ channel was activated by intracellular GTP (with somatostatin), GTPgammaS or Gbetagamma subunits. It was thus identified as a G protein-gated K+ (K(G)) channel. RT-PCR and immunohistochemical analyses suggested the K(G) channel to be composed of Kir3.2c and Kir3.4. This study identified a novel ionic mechanism involved in somatostatin-inhibition of glucagon-secretion from pancreatic alpha cells.

Acetylcholine↗
PubMed1999

A study on the differences between oral squamous cell carcinomas and normal oral mucosas measured by Fourier transform infrared spectroscopy.

We investigated the differences of Fourier transform infrared (FTIR) spectra between oral squamous cell carcinoma (OSCC) and normal gingival epithelium (NGE) or normal subgingival tissue (NST). We used 15 specimens of OSCC which had not been treated before measurement and 10 of NGE or NST. We also used cultured oral squamous cell carcinoma (COSCC) and the tissue (MSCC) which massed for 3 months after the cultured oral squamous cell carcinoma was transplanted into the lower back of a rat. Those tissue spectra were compared with the purified human collagens and human keratin. One half of every tissue specimen was measured with FTIR and the other half was investigated histologically. The differences of FTIR spectra between OSCC and NGE were observed in the bands between 1431 and 1482 cm(-1) and between 1183 and 1274 cm(-1). The shoulder at 1368 cm(-1) tended to disappear in OSCC, and the peaks at 1246 and 1083 cm(-1) found in NGE tended to shift to those at 1242 and 1086 cm(-1) in OSCC, respectively. The infrared spectrum of NST was noticed to be strongly influenced by the presence of collagen. Significant differences were also observed in the second derivative FTIR spectra between OSCC and NGE. Our data suggested that this infrared technique is applicable to clinical diagnostics.

Adolescent↗
PubMed1999

Multicenter study of paroxysmal dyskinesias in Japan--clinical and pedigree analysis.

To investigate the clinical features of paroxysmal dyskinesias and carry out a pedigree analysis, we conducted a multicenter survey in Japan. A questionnaire was mailed to 229 medical institutions. A total of 150 patients with paroxysmal kinesigenic choreoathetosis (PKC), including 53 sporadic cases and 97 affected individuals from 32 pedigrees, were identified. The mean age of onset of PKC was 8.8 years, and 80% of the cases were men. Of the 32 pedigrees with familial occurrence, 18 (56%) were compatible with an autosomal-dominant inheritance (AD) with complete penetrance, and seven (22%) had AD with incomplete penetrance; the remaining seven were sibling recurrence cases with apparently healthy parents. In six of seven familial cases with incomplete penetrance, the disease gene was thought to be transmitted by clinically unaffected females. Paroxysmal dystonic choreoathetosis (PDC) was found in five cases, including two sporadic cases and three affected individuals from two pedigrees; the mean age of onset was 0.6 years, and a male predominance was noted (male:female = 4:1). There was one case of paroxysmal hypnogenic dyskinesia and one case of paroxysmal exertion-induced dyskinesia. There is an unexplained male predominance for paroxysmal dyskinesias. When the genetic defect of patients with paroxysmal dyskinesias is identified, the pathophysiology of the disease will become more clear.

Adolescent↗
PubMed1999

Analysis of Rotational Transitions in Excited Vibrational States of Propionitrile (C2H5CN).

We have observed rotational transitions of propionitrile (C2H5CN) in the 8-200 GHz region and assigned 208 transitions with J </= 16 and Ka </= 2 in the first excited state of torsional vibration, 244 transitions with J </= 16 and Ka </= 2 in the first excited state of CCN in-plane bending vibration, and 374 transitions with J </= 16 and Ka </= 4 in the first excited state of CCN out-of-plane bending vibration. We simultaneously analyzed these transitions in the three excited vibrational states, combining with the previously reported transitions in the ground vibrational state, on the basis of a Hamiltonian including CCN-bending vibration-torsion-rotation interactions. A total of 1560 transitions were fitted with 0.95-MHz 1varsigma standard deviation, and molecular constants were determined. Copyright 1999 Academic Press.

Journal Article↗
PubMed1999

Congenital muscular dystrophy with central and peripheral nervous system involvement in a Belgian patient.

We report a patient with congenital muscular dystrophy (CMD), developmental brain defects, and peripheral neuropathy. Marked hypotonia and plagiocephaly were noted at birth. Failure to thrive, generalized muscle weakness and wasting, absent deep tendon reflexes, partial seizures, and secondary microcephaly developed. Brain MRI showed a large area of cortical dysplasia, a thin but complete corpus callosum, and diffuse ventriculomegaly. Nerve conduction velocities were slow and creatine kinase levels only mildly elevated. Muscle biopsy showed dystrophic features with normal merosin, sarcoglycan, and dystrophin immunostaining. The Japanese Fukuyama CMD founder mutation was not detected. This is the first report of a patient with merosin-positive CMD, cobblestone lissencephaly, and demyelinating peripheral neuropathy.

Atrophy↗
PubMed1999

Chemical conversion of vibsanin C to vibsanin E and structure of 3-hydroxyvibsanin E from viburnum awabuki

Vibsanin E (4), a tricyclic vibsane-type diterpene, has been prepared in 50% yield from vibsanin C (2), a seven-membered ring vibsane-type diterpene by reaction with BF3.OEt2 at -78 degrees C. This chemical correlation not only established structure, including absolute configurations, but also has demonstrated a possible biosynthetic route to 4 via 2 derived from vibsanin B (1). The structure of 3-hydroxyvibsanin E (5), another example of a tricyclic seven-membered ring vibsane, isolated from the leaves of Viburnumawabuki, has been established by extensive analyses of 2D NMR data and comparison of its spectral data with those of 4.

Journal Article↗
PubMed1999

Serial intelligence test scores in pediatric moyamoya disease.

Serial intelligence tests in 38 patients with childhood moyamoya disease were evaluated. A total of 98 tests were administered. The IQ scores were classified into three categories: tests performed between the time of onset of symptoms and 5 years after the onset of symptoms (n = 44), tests performed 5-10 years after the onset of symptoms (n=32), and tests performed more than 10 years after the onset of symptoms (n=22). When more than one test was performed during each period, the mean of the IQ scores was used. The IQ tests were administered two or more times to 10 patients in the onset-5-years category, and 5 of them exhibited lower IQ scores on later tests. The IQ scores were significantly lower in the 5-10 years category and in the more than 10 years category (76.8 +/- 23.1 and 73.9 +/- 31.1, respectively) than in the onset-5-years category (92.9 +/- 22.7). The IQ scores for the 5-10 years category and the more than 10 years category did not differ significantly. The IQ in pediatric moyamoya disease begins to decrease after the onset of symptoms, but the decline eventually stabilizes more than 10 years after the onset of symptoms.

Adolescent↗