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Biomedical subjects

K Fujiki

Publications and source records attributed to K Fujiki.

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

A novel truncated isoform of the mannose-binding lectin-associated serine protease (MASP) from the common carp (Cyprinus carpio).

The mannose-binding lectin (MBL) and MBL-associated serine proteases (MASPs) play crucial roles in activation of the lectin pathway of the complement system. Mammals and Xenopus possess two distinct MASPs, MASP1 and MASP2, with different substrate specificity. Recently, a truncated form named MAp19 or sMAP, composed of N-terminal C1r/C1s/Uegf/bone morphogenetic protein (CUB)-1 and epidermal growth factor domains of MASP2, has been shown to be generated by alternative polyadenylation and splicing from the MASP2 gene. In the present study, we isolated cDNA encoding a novel MASP-related protein, designated MRP, from carp. MRP is distinct from MAp19/sMAP in containing two additional domains, CUB-2 and short consensus repeat (SCR)-1, followed by a unique C-terminal 21 amino acids, but resembles it by also lacking the serine protease domain, suggesting that carp MRP is a functional homologue of human MAp19/sMAP. Analyses of polymerase chain reaction (PCR)-amplified carp genomic DNA, from CUB-2 to SCR-2 of MASP, indicated that carp possess duplicated MASP genes, designated MASP-A and MASP-B, both of which contain an exon encoding the MRP-specific C-terminal stretch between the exons coding for SCR-1 and SCR-2 domains. Reverse transcription-PCR analysis showed that both MASP genes of carp produce the two MASP isoforms, MASP and MRP, through alternative polyadenylation and splicing. The conservation of MASP isoforms that lack the catalytic domain in both carp and human implies that they meet an essential requirement in the MBL-MASP complex of the lectin pathway.

Amino Acid Sequence↗
PubMed2000

Adeno-endocrine cell carcinoma of the gallbladder.

We encountered a rare case of adeno-endocrine cell carcinoma of the gallbladder in an 81-year-old woman. Imaging study revealed a common bile duct stone. Endoscopic sphincterotomy was performed, and the stone was extracted successfully. Thereafter, cholecystectomy was performed. A papillary tumor was found in the neck of the gallbladder. Histologically, the tumor consisted of two components, well differentiated adenocarcinoma and endocrine cell carcinoma. However, no clinical signs of tumor hormonal activity were observed. The tumor cells in the area of the endocrine cell carcinoma were small and round. Histochemical studies of these tumor cells were positive for chromogranin A and Grimelius silver impregnation. The tumor cells in the area of the adenocarcinoma were well differentiated adenocarcinoma and included goblet-type cells with a tubular structure or solid growth pattern. These adenocarcinoma cells stained positively for Alcian blue and periodic acid-Schiff, and both types of tumor cells stained positively for carbohydrate antigen and carcinoembryonic antigen. It was suggested that the histogenesis of the endocrine cell carcinoma of the gallbladder was closely related to that of the adenocarcinoma.

Adenocarcinoma↗
PubMed2000

Synchronous or metachronous double cancers of the pancreas and other organs: report on 12 cases.

Pancreatic carcinoma carries a poor prognosis, especially invasive ductal carcinoma of the pancreas. This retrospective study describes the results of the treatment and prognosis for double cancers in which cancer of the pancreas was associated with malignancies in other organs in 12 patients who were diagnosed and treated at Kurume University Hospital. The patients included 4 women and 8 men, with an average age of 67 years. Of the 12 tumors, 7 were metachronous pancreatic cancers which occurred after resections of other organ malignancies. Five patients had synchronous double cancers, one of whom was diagnosed to have gastric cancer on admission. Two other patients of this group were diagnosed to have lung cancer, while the remaining 2 patients suffered from colon cancer. By the time pancreatic cancer was diagnosed, gastrectomies had been performed in 7 patients for either gastric cancer or ulcers. In addition, one patient underwent a hysterectomy for uterine carcinoma and another received a low anterior resection for rectal carcinoma. Four of 5 patients in the synchronous group had nonresectable tumors and a palliative bypass operation was performed in 2 of these patients. Six patients who had metachronous double cancers died because of pancreatic cancer recurrence or metastases. We conclude that the prognosis of double cancers, where cancer of the pancreas is associated with other organ malignancies, primarily depends on the prognosis of the pancreatic carcinoma, and the present study suggests the necessity of long-term follow-up examinations for gastrectomy patients in order to make an early diagnosis of pancreatic cancer.

Aged↗
PubMed2000

Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the P501T of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy.

PURPOSE: To analyze BIGH3 and M1S1 genes in two Japanese brothers with gelatinous drop-like corneal dystrophy and five unaffected family members. METHODS: DNA was extracted, and each part of the two genes was amplified and directly sequenced. RESULTS: On the BIGH3 gene, a heterozygous P501T mutation was found in the elder brother and three unaffected family members. On the M1S1 gene, both brothers with gelatinous drop-like corneal dystrophy showed a homozygous Q118X mutation, whereas all unaffected members were heterozygous. CONCLUSIONS: The Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy. Although the P501T of the BIGH3 gene found in this pedigree was precisely the one reported for lattice corneal dystrophy IIIA, no clinical feature was shown, even in the 85-year-old father. This fact shows that the P501T mutation for LCDIIIA has low penetrance.

Adult↗
PubMed2000

A case of juvenile retinoschisis diagnosed by analysis of the XLRS 1 gene

Background: We report on a 3-year-old boy who was first diagnosed with retinal detachment and macular hole and received surgical treatment. X-linked juvenile retinoschisis was determined by DNA analysis.Case: Past or family history was not recognized. There was left macular hole but no typical spoke-like foveal retinoschisis was observed in either eye. We could not diagnose the case as X-linked juvenile retinoschisis because there was no family history of it, central foveal reflex was observed in the right eye with corrected visual acuity of 1.2, and no abnormality was recorded in the electroretinogram. High molecular weight DNA was extracted from peripheral leukocytes, and the XLRS 1 gene was analyzed. Hemizygous missense mutation, Arg102Gln, was detected. We diagnosed the disease as X-linked juvenile retinoschisis because the Arg102Gln mutation was detected in a family in Germany, two families in the United Kingdom, and two families in the USA.Conclusion: XLRS 1 gene analysis is useful if the diagnosis is difficult clinically due to aytpical clinical findings.

Journal Article↗
PubMed2000

Six different mutations of TGFBI (betaig-h3, keratoepithelin) gene found in Japanese corneal dystrophies.

PURPOSE: To investigate mutations of the human transforming growth factor beta-induced gene (TGFBI), transforming growth factor-beta-induced gene product (betaig-h3, keratoepithelin), in Japanese patients with Avellino corneal dystrophy (ACD), lattice corneal dystrophy (LCD), granular corneal dystrophy (GCD), and Reis-Bücklers corneal dystrophy (RBCD). METHODS: Genomic DNA was extracted from the peripheral blood of 75 patients and 7 unaffected relatives from 60 families with ACD, 34 patients and 8 unaffected relatives from 21 families with LCD, 4 patients and 4 unaffected relatives from 4 families with GCD, and 4 patients and an unaffected relative from 3 families with RBCD. Fifty normal volunteers served as controls. Exons 4, 11, and 12 of the TGFBI gene were amplified by polymerase chain reaction and were directly sequenced. RESULTS: Six different heterozygous missense mutations were detected in codons R124, L518, L527, and R555 of the TGFBI gene in the 117 patients from 88 families. A R124H mutation was detected in the patients with ACD. A R124C mutation was detected in the patients with LCD type 1 (LCD1), L518P was in atypical LCDI, and L527R in LCD with opacities deep in stroma. A R555W mutation was detected in the patients with GCD. A R555Q mutation was detected in the patients with RBCD. CONCLUSIONS: We conclude that codons R124 and R555 of the TGFBI gene are also hot spots in Japanese patients with ACD, LCD, GCD, and RBCD. Many Japanese patients with CD had ACD with R124H mutation. GCD with R555W mutation was rare.

Codon↗
PubMed2000

Endoscopic and histological comparison of nonulcer dyspepsia with and without Helicobacter pylori infection evaluated by the modified Sydney system.

OBJECTIVE: Our aim was to identify endoscopic features associated with Helicobacter pylori (H. pylori) infection in patients with nonulcer dyspepsia. METHODS: A total of 50 infected patients with nonulcer dyspepsia who underwent endoscopy with antral and corporal biopsies and 50 patients matched for age and sex but with nonulcer dyspepsia without H. pylori were reviewed retrospectively by three endoscopists blinded to the H. pylori status and the patient's history. The endoscopic findings of gastritis, classified by a modification of the Sydney system as present or absent, were evaluated, and the histological severity was graded by the updated Sydney system. RESULTS: For endoscopic features, the odds ratio was 53.1 (95% confidence interval, 6.8-414.9) for edema, 18.8 (5.8-60.5) for erythema with reddish streaks excluded, 0.0275 (0.0002-0.477) for reddish streaks, 17.4 (0.97-313.7) for friability, 14.2 (5.1-40.0) for exudate, 17.2 (2.2-137.6) for flat erosions, 2.54 (0.81-7.94) for raised erosions, 40.1 (2.3-694.5) for rugal hypertrophy, 19.1 (2.4-151.6) for rugal atrophy, 96.2 (23.4-395.9) for a vascular pattern, 0.125 (0.010-1.06) for bleeding spots, and 21.0 (2.6-166.5) for nodularity. The histological severity of inflammation, neutrophil activity, and atrophy in the antrum and corpus and of metaplasia in the antrum was greater in the infected patients than in the noninfected patients. CONCLUSIONS: Endoscopic features associated with H. pylori were a vascular pattern, edema, rugal hypertrophy, nodularity, rugal atrophy, erythema with reddish streaks excluded, flat erosions, and exudate. These endoscopic features were associated with the histological findings of inflammation, neutrophil activity, atrophy, and metaplasia.

Atrophy↗
PubMed2000

Corneal amyloidosis caused by Leu518Pro mutation of betaig-h3 gene.

AIM: To report a Japanese family diagnosed clinically as having lattice corneal dystrophy type I (LCDI) in which a Leu518Pro mutation in the betaig-h3 gene and not the R124C mutation reported previously was found. METHODS: Molecular genetic analysis was performed on DNA extracted from peripheral leucocytes from four members (three affected and one unaffected) of a family. Exon 4 of the betaig-h3 gene was amplified by PCR and directly sequenced. Histopathological study was performed on the corneal tissue from the proband obtained during deep lamellar keratoplasty. RESULTS: All the affected members were clinically diagnosed as having LCDI, and the pedigree indicated an autosomal dominant inheritance. A heterozygous single base pair transition (CTG to CCG, leucine to proline) was detected in codon 518 of the betaig-h3 gene in the three affected members, and not in the unaffected member. No mutation was found in codon 124. Amyloid deposits were observed between the collagen bundles of the corneal stroma and were seen to extend deep into the stroma. CONCLUSION: The Leu518Pro mutated betaig-h3 forms amyloidogeneic intermediates which precipitate in the cornea and gives rise to a clinical appearance of LCDI.

Adolescent↗
PubMed2000

A case of synchronous double cancers of the pancreas and stomach.

Pancreatic cancer carries a poor prognosis, especially invasive ductal carcinoma of the pancreas. We present here the case of a 76-year-old man who developed synchronous double cancers of the stomach and pancreas. He was referred to our hospital in December, 1997, with a provisional diagnosis of carcinoma of the stomach. Laboratory data on admission showed normal levels except for the serum carcinoembryonic antigen level. Abdominal ultrasonography revealed a low echoic mass anterior to the pancreas, suggestive of a nodal metastasis. Intraoperative histological findings from the pancreatic nodule confirmed a primary pancreatic cancer. The diagnosis of double cancers of the stomach and pancreas was made, and subtotal gastrectomy and distal pancreatectomy with lymph nodes dissection were carried out. The histologic sections from the stomach showed a moderately differentiated tubular adenocarcinoma, whereas those from the pancreas showed a well to moderately differentiated tubular adenocarcinoma. Double carcinomas in this association are relatively rare.

Aged↗
PubMed1999

BQ788, an endothelin ET(B) receptor antagonist, attenuates stab wound injury-induced reactive astrocytes in rat brain.

Endothelins (ETs) are suggested to be involved in pathological or pathophysiological responses on brain injuries. In the present study, an involvement of ETs on activation of astrocytes in vivo was examined by using selective endothelin receptor antagonists. A stab wound injury on rat cerebral cortex increased immunoreactive ET-1 at the injured site. GFAP-positive [GFAP(+)] and vimentin-positive [Vim(+)] cells appeared at the injured site in 1 day to 2 weeks after the injury. A continuous infusion of BQ788, a selective ETB receptor antagonist, into cerebral ventricle (23 nmole/day) attenuated increase in the numbers of GFAP(+) and Vim(+) cells after the injury. FR139317, a selective ETA antagonist (23 nmole/day), slightly decreased the number of Vim(+) cells but not that of GFAP(+) cells. Increase in the number of microglia/macrophages by a stab wound injury, which was determined by Griffonia simplicifolia isolectin B4 staining, was not affected by BQ788 and FR139317. These results suggest that activation of glial ETB receptors is one of the signal cascades leading to reactive astrocytes on brain injuries.

Animals↗
PubMed1999

REP-1 gene mutations in Japanese patients with choroideremia.

BACKGROUND: Choroideremia (CHM) is an X-linked progressive dystrophy of the choroid, retinal pigment epithelium, and retina. Recently, the REP-1 gene was isolated and the causative mutations in the gene were detected in patients with CHM. In a previous study, we described a Japanese family with CHM who had a mutation in the REP-1 gene. In the present study, we performed extensive analysis of the REP-1 gene in patients with CHM from several institutions in Japan. METHODS: Twenty-six patients with CHM and 5 unaffected females from 22 independently ascertained families were examined. Exons 1-15 of the REP-1 gene were screened by single-strand conformation polymorphism. The DNA fragments suspected of any variations were directly sequenced. RESULTS: Fifteen different mutations, including one previously reported mutation, were detected in 18 families. In addition, carrier status was proven in four unaffected females found to be heterozygous for the mutant allele. CONCLUSIONS: Fifteen different mutations of the REP-1 gene were detected in 18 Japanese families. There were no hot spots for the mutations and no missense mutations. The results show that REP-1 gene defects cause CHM in Japanese patients, and the mutations in these Japanese patients differed from the mutations reported for CHM patients in Europe, Canada, and America except for R267X and 1313delTC. These findings suggest that the mutations occurred independently in the Japanese patients.

Adaptor Proteins, Signal Transducing↗
PubMed1999

Leu518Pro mutation of the beta ig-h3 gene causes lattice corneal dystrophy type I.

PURPOSE: To describe a Japanese family with lattice corneal dystrophy type I, which segregates with a novel mutation, Leu518Pro of the beta ig-h3 gene. METHODS: DNA was extracted from leukocytes in four members (three affected and one unaffected) of a Japanese family with lattice corneal dystrophy type I. Exon 12 of the beta ig-h3 gene was amplified and analyzed with a molecular biologic method. Clinical data were also collected. RESULTS: Three generations of this family have been positively diagnosed with lattice corneal dystrophy, indicating autosomal dominant inheritance. We found a heterozygous point mutation that segregates with the disease phenotype. It was a single base-pair transition (CTG to CCG, Leu to Pro). CONCLUSION: Although it is extremely rare compared with the Arg124Cys mutation of the beta ig-h3 gene, Leu518Pro mutation of the beta ig-h3 also causes lattice corneal dystrophy type I.

Adolescent↗
PubMed1999

Visual impairment and REP-1 gene mutations in Japanese choroideremia patients.

Choroideremia (CHM), an X-linked recessive hereditary disease, is an intractable chorioretinal dystrophy. The rate of disease progression of CHM reportedly shows considerable variability. A number of mutations involving the gene that codes for Rab escort protein-1 (REP-1) have been detected in CHM patients. We have analyzed REP-1 gene mutations of Japanese CHM patients. The present study was designed to investigate the clinical variability and the genotype to phenotype relationship in 15 Japanese CHM patients referred to the Department of Ophthalmology of Juntendo University Hospital. The clinical investigation of visual acuity, visual field, color vision and refraction revealed inter-individual variability. Mutation analyses of the REP-1 gene revealed 10 types of mutations in 13 patients from 11 families, including an insertion, small deletions, nonsense mutations and an A to CC mutation. In 13 CHM patients with detectable REP-1 gene mutations, no relationship of genotype to phenotype was detected. At present, we consider the REP-1 genotype to be an unreliable prognostic factor for counseling of CHM patients. In two patients from one family, no mutations were detected in coding regions of the REP-1 gene. These patients may have intron mutations of the REP-1 gene, not detectable by the techniques employed in this study, or other causative genes. Both were observed to have somewhat slower disease progression than the other 13 patients. More advanced analyses are necessary to answer questions regarding the genotype-phenotype relationship in CHM patients.

Adaptor Proteins, Signal Transducing↗
PubMed1999

Secondary mutations of mitochondrial DNA in Japanese patients with Leber's hereditary optic neuropathy.

PURPOSE: Based on studies on the pathogenesis of Leber's hereditary optic neuropathy (LHON), mitochondrial DNA (mtDNA) mutations have been divided into two types: primary and secondary. Primary mutations at nucleotide positions (nt) 11778, 3460, and 14484 can each cause LHON. Secondary mutations may be simultaneously found in LHON patients with a primary mutation, may occur at higher frequency in LHON patients than in normal controls, and may play an additional role in the pathogenesis of LHON. We examined the frequencies of secondary mutations of mtDNA at nt3394, 7444, 9438, 9804, 13708, and 15257 in 19 Japanese patients with LHON associated with primary mutations and 108 normal controls. METHODS: Mutations were determined by restriction enzyme analysis or DNA sequencing using polymerase chain reaction (PCR) products. RESULTS: One patient with an nt11778 mutation also had an nt13708 mutation. Another patient with an nt3460 mutation also had an nt7444 mutation. During DNA sequencing of the PCR fragment harboring nt3394, three novel mutations in the ND1 gene (nt3316, 3496, and 3497 mutations) were found in three patients with an nt11778 mutation. The frequency of these mutations in 108 control subjects was studied further: one (0.9%) had an nt3394 mutation, none (0%) had an nt9804 mutation, one (0.9%) had an nt13708 mutation, two (1.9%) had nt3316 mutations, one (0.9%) had an nt3496 mutation, and two (1.9%) had nt3497 mutations. CONCLUSION: It is unlikely that the frequencies of secondary mutations in Japanese patients with LHON are higher than those in normal Japanese controls. It is possible that the mutations at nt3316, 3496, and 3497 are secondary mutations of LHON.

Adult↗
PubMed1999

Large-scale sequencing of the rabbit corneal endothelial cDNA library.

PURPOSE: This study sought to identify novel or active genes in corneal endothelial cells with description of the gene-expression profile. METHODS: We performed the single-pass sequencing of 1,000 clones from a rabbit corneal endothelial cDNA library. Inserts of the library were amplified by polymerase chain reaction (PCR), sequenced, and compared with several databases. We used four database similarity search programs: FASTA, BLASTN, TBLASTX, and BLASTX. RESULTS: Of the sequences generated, 618 (61.8%) showed sequence homology with known genes, whereas 192 (19.2%) matched previous reported expression sequence tags (ESTs) and 174 (17.4%) showed no sequence similarity. Among the homologous clones to known genes are collagen type VIII, secreted protein acidic and rich in cysteine (SPARC), lysyl oxidase, phosphatidylcholine-2-acylhydrolase, and thrombospondin. Several matched ESTs, and no matched clones that showed high frequency were also detected. CONCLUSION: Large-scale sequencing can be useful in obtaining a profile of the active genes. Several ESTs showed relatively frequent expression, suggesting that these genes may have important functions in the corneal endothelium.

Animals↗
PubMed1999

Endocrine tumor of the pancreas--an evaluation of eighteen patients who underwent resection followed by long-term survival.

Tumors arising from the pancreatic endocrine (islet) cells represent a heterogeneous group of lesions. Some tumors present with well characterized syndromes, while others appear to be nonfunctioning. Eighteen patients with pancreatic endocrine tumors who received surgical treatment at Kurume University Hospital during a 24-year period were reviewed. There were 10 patients with nonfunctioning tumors including 3 patients with benign tumors, and 8 patients with insulinomas. No patients had multiple endocrine neoplasms. Location of the pancreatic tumor was determined preoperatively in 83.3% of the patients. Immunohistochemical analysis of the resected specimens showed multi immunoreactivity to gut hormones among benign lesions and one malignant lesion, whereas malignant lesions showed no or mono immunoreactivity except in one case. In this series, there were no characteristic immunohistochemical findings in the tumors. Both patients with malignant and benign lesions have good prognoses if the main tumors and metastatic lesions are removed.

Adult↗
PubMed1999

A case of Turner's syndrome complicated with desmoid tumor of the transverse colon.

The association of Turner's syndrome and endometrial carcinoma has been previously established, but has never been described in conjunction with a desmoid tumor of the colon. A case is described of a colonic desmoid tumor developing in a 38-year-old female with Turner's syndrome. The association has not been previously reported. In this report, we describe a 38-year-old woman who has Turner's syndrome with a colonic desmoid and review the literature.

Adolescent↗