Digitate dermatosis associated with ulcerative colitis?
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Colitis, Ulcerative↗
Biomedical subjects
K Umeki
Publications and source records attributed to K Umeki.
Iodide organification defects resulting from cosegregation of mutated and null thyroid peroxidase alleles.
This report describes an intriguing combination of the thyroid peroxidase (TPO) alleles resulting in an iodide organification defect. Sequence analysis of the patient's TPO gene showed the presence of T-deletion in exon 14 of the TPO gene (T2512del). From the sequencing pattern, this new mutation of the TPO gene was thought to be homozygous. mRNA transfection studies in which mutated mRNA was transfected to CHO-K(1) cells by electroporation showed that the cells transfected with mutated mRNA expressed smaller TPO molecules than those of cells transfected with wild-type mRNA and that they had TPO activity. However, the smaller TPO molecules could not translocate onto the cell surface. To investigate T2512del in the parents, their genomic DNAs were sequenced. Results showed that the mother had T2512del but the father did not. However, when seven polymorphic positions reported earlier were analyzed, the mother showed two kinds of nucleotides at four positions but the patient and father showed only one nucleotide at all seven positions. We suspected a deletion of the TPO gene (2p25) in one of two second chromosomes, and analyzed the patient's chromosomes by FISH using TPO cDNA and N-myc genomic DNA as probes. N-myc genomic DNA exhibited two signals and TPO cDNA only one signal, although the G-band showed no morphological abnormalities. T2512-deleted and 2p25-deleted null alleles cosegregated from her parents, resulting in iodide organification defect in the patient.
Adult↗
Phenotypic heterogeneity in bullous congenital ichthyosiform erythroderma: possible somatic mosaicism for keratin gene mutation in the mildly affected mother of the proband.
BACKGROUND: Bullous congenital ichthyosiform erythroderma (BCIE) shows phenotypic variability. An epidermal nevus may represent somatic mosaicism for keratin gene mutation, which produces generalized BCIE in the next generation. This fact provides evidence that a postzygotic mutation can be passed on to the next generation in BCIE. We hypothesized that the same phenomenon occurred in a family with BCIE whose phenotypes were extremely different. OBSERVATIONS: We studied a 19-year-old boy with severe ichthyosiform erythroderma and prominent palmoplantar hyperkeratosis with digital contracture. In contrast, the proband's mother exhibited only mild ichthyosiform skin, granular verrucous lesions, and less severe streaky palmoplantar hyperkeratosis. Mutation analysis in the proband showed a keratin K1 mutation (N187S, ie, an A-to-G transition at the second position of codon 187, resulting in an asparagine-to-serine substitution). In the mother, the same keratin gene mutation was recognized, but only faintly in the leukocyte DNA, indicating that the amount of the mutated allele in leukocyte DNA was very low compared with that from the proband. CONCLUSIONS: We speculate that the mildly affected mother showed keratin 1 gene mosaicism, and that the BCIE phenotype had been transmitted in a severe form through a mechanism that passes the keratin gene mutation to the next generation. These results suggest that mild forms of BCIE may actually represent extensive epidermal nevi/keratin gene mosaicism.
Adolescent↗
Red blood cell status in alcoholic and non-alcoholic liver disease.
Macrocytosis is most commonly associated with vitamin B(12) and folic acid deficiency, followed by alcoholism, liver disease, and other pathologic conditions. We studied the red cell and vitamin status in 423 consecutive patients with various liver diseases, including 31 with acute viral hepatitis (AVH), 105 with chronic hepatitis (CH), and 134 with alcoholic liver disease (ALD), who consisted of 84 with non-cirrhotic alcoholic liver disease (NCALD) and 50 with alcoholic liver cirrhosis (ALC), 60 with non-alcoholic liver cirrhosis (NALC), and 93 with hepatocellular carcinoma (HCC). The mean corpuscular volume (MCV) and red cell distribution width (RDW) were significantly higher in patients with ALD and NALC, and among them macrocytosis occurred more frequently in patients with ALC. Macrocytic anemia was mostly found in cirrhotic patients, in which the Child-Pugh score was closely related to the development of macrocytic anemia. In ALD, the MCV was significantly correlated with the estimated alcohol consumption and inversely correlated with the serum folic acid level, which, however, was often maintained within the normal range in patients with macrocytic ALC. After abstinence from alcohol, the MCV and RDW were reduced significantly and were associated with an increasing serum folic acid level. This suggests that macrocytic anemia was a common feature of alcoholic and non-alcoholic liver cirrhosis and that alcohol abuse and folic acid deficiency play a secondary role in macrocytosis.
Adult↗
Sézary syndrome with acute progressive pulmonary infiltration after improvement of skin eruption.
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Adult↗
Cloning and characterization of a novel RNA-binding protein SRL300 with RS domains.
AT-rich element binding factor 1 (ATBF1) mRNA encodes a transcription factor implicated in neuronal differentiation. A cDNA for the protein that can bind the 5'-noncoding sequence of the ATBF1 mRNA was cloned. The deduced protein, termed SRL300, contains a unique RNA-binding region, two large RS domains and many phosphorylation sites. SRL300 protein was detected in both human and rat cells.
Amino Acid Sequence↗
[A case of tuberculous peritonitis diagnosed by ultrasonography-guide peritoneal biopsy].
The diagnosis of tuberculous peritonitis is quite difficult because the symptoms are not specific for the disease and the incidence of occurrence are relatively rare. We report a case of tuberculous peritonitis diagnosed by ultrasonography-guided peritoneal biopsy. A 64-year-old male was admitted to our hospital because of fever, dyspnea and abdominal pain. Laboratory findings revealed an elevated ESR (53 mm/1 hr.) and positive CRP. The tuberculin skin test was negative. The chest radiograph revealed bilateral pleural effusion. Abdominal ultrasonographic examination and computed tomography showed ascitic fluid, thickening of the mesentery and peritoneum, and inflammatory pseudotumor of the omentum. Ascitic fluid was exudate with a high lymphocyte count and elevated ADA (184 IU/l). Microbiological studies with the fluid were negative. Peritoneal biopsy guided by ultrasonography was performed, and the specimens showed central caseous necrosis surrounded by epitheloid cells and acid-fast bacilli were demonstrated. The size of the pseudotumor, pleural effusion and ascites decreased after antituberculous chemotherapy with corticosteroid was given. Diagnosis of tuberculous peritonitis has often been made by laparotomy or laparoscopy. In a case of this kind, percutaneous peritoneal biopsy guided by ultrasonography is safe and useful.
Biopsy↗
Prevalence of hypoxemia in 102 Japanese patients with alcoholic and nonalcoholic cirrhosis.
OBJECTIVE: Liver cirrhosis is often accompanied by arterial hypoxemia in the absence of cardiopulmonary disease. The aim of this study was to investigate the relationship between various clinicopathological conditions and the hypoxemia seen in Japanese patients with liver cirrhosis. METHODS: In 102 consecutive patients with alcoholic (N = 45) and nonalcoholic (N = 57) cirrhosis not associated with cardiopulmonary disease, we performed lung perfusion scintigraphy, contrast echocardiography, and arterial blood gas analysis and measured oxygen consumption. RESULTS: No abnormality was seen in pulmonary blood flow in cirrhotic patients, but 38 (38%) of them had a decreased partial pressure of oxygen (PaO2). The hypoxemic patients did not show any pulmonary signs or symptoms. The hypoxemia was not associated with the Child-Pugh grade, and was observed in 32 (71%) of the 45 alcoholic patients but in only six (11%) of the 57 nonalcoholic patients (p < 0.001). Oxygen consumption was significantly higher in the alcoholic group than in the nonalcoholic group (p < 0.0001), and a high incidence of oxygen consumption was seen in all 45 (100%) of the alcoholic patients and in 34 (60%) of the nonalcoholic subjects, the difference being significant (p < 0.01). The relationship between oxygen consumption and PaO2 in the 102 cirrhotic patients showed an inverse correlation (r = -0.85, p < 0.0001). Among the alcoholic patients, the incidence of hypoxemia did not differ between the 33 smokers and the 12 nonsmokers. After 1 wk of abstinence from alcohol a significant increase (p < 0.0001) in the PaO2 was seen in 14 of 19 patients with alcoholic cirrhosis. CONCLUSIONS: We conclude that the hypoxemia in Japanese patients with liver cirrhosis occurs mainly in drinking alcoholic patients, presumably due to an increased oxygen consumption by alcohol.
Aged↗
Clinical significance of c-met oncogene alterations in human colorectal cancer.
Abnormalities of the c-met oncogene have been studied in cancers of many organs including thyroid, lung, pancreas, and stomach. However, little is known about the clinical significance of c-met oncogene abnormalities in colorectal cancer. We investigated the amplification and overexpression of the c-met gene in surgically resected samples from 43 patients with colorectal cancer using Southern blot analysis and reverse transcription-polymerase chain reaction (RT-PCR). Four of 33 (12%) samples of colorectal cancer showed amplification of the c-met gene. Twelve of 43 (30%) exhibited overexpression of the c-met gene. The patients with c-met overexpression showed greater tumor size, compared to those without c-met overexpression (p < 0.05). However, there were no differences in clinical stage, histological differentiation, tumor markers, or overall survival between two groups. The findings of the present study suggest that overexpression of c-met gene plays an important role in growth of colorectal cancer.
Adult↗
A novel mutation in the human thyroid peroxidase gene resulting in a total iodide organification defect.
In this study we describe a novel mutation of the thyroid peroxidase (TPO) gene that resulted in a total iodide organification defect. TPO activity and thyroxine formation in thyroglobulin in the thyroid gland of the patient were below the limits of detection. However, TPO mRNA was detectable at a similar size and concentration as compared with normal thyroid tissues when measured by Northern blot analysis. Sequence analysis of the TPO gene showed the presence of two mutations, a missense mutation in exon 7 and C insertion in exon 14. These mutations were heterozygous and located in different alleles. The latter mutation has already been reported as one of the mutations of the TPO gene resulting in total iodide organification defect. The former mutation was further analysed by mRNA transfection studies in which mutated mRNA was transfected to CHO-K1 cells by electroporation. The results of transfection studies showed that the cells transfected with mutated mRNA expressed similar size TPO molecules to those of cells transfected with wild-type mRNA but that they lacked TPO activity. The two mutations of the TPO gene resulting in the total iodide organification defect in the patient cosegregated from her parents.
Adenoma↗
Coexistence of generalized morphea with hisotological changes in lichen sclerosus et atrophicus and lichen planus.
We reported a 44-year-old Japanese woman with generalized multiple sclerotic plaques, which showed histological findings of morphea. This patient also had an erosive lesion on her mouth; its histological findings were consistent with lichen planus. A sclerotic lesion on her thigh showed the histological findings of lichen sclerosus et atrophicus (LSA). These data suggest that similar etiologic events or closely related pathologic processes are involved in morphea, lichen planus, and LSA.
Adult↗
Cloning and characterization of the rat p130, a member of the retinoblastoma gene family.
A cDNA clone encoding rat p130, a member of the retinoblastoma (Rb) gene family, was isolated based on the sequence homology of the E1A-binding domain. The 4.87 kb cDNA contained an 1135-amino acid open reading frame with high homologies to the human and mouse p130 and a partial homology to the pRb protein. p130 showed difference in distribution of potential phosphorylation sites from pRb in the N-terminal and the B pocket regions. p130 mRNA was detected in most rat tissues. The p130 gene was mapped to rat chromosome 19p11-13 by fluorescence in situ hybridization.
Amino Acid Sequence↗
A keratin K10 gene mutation in a Japanese patient with epidermolytic hyperkeratosis.
Epidermolytic hyperkeratosis (EHK), or bullous congenital ichthyosiform erythroderma, is characterized by generalized erythroderma, ichthyosiform skin and blistering, and is caused by an aberration of the keratin intermediate filaments. In this study, we examined keratin K10 and 1 gene mutations in a Japanese EHK patient who had severe ichthyosiform erythroderma at birth and developed subsequent blistering. The patient had a G to A transition at codon 156 of the keratin K10 gene, which resulted in an arginine (Arg)-->histidine (His) substitution in the helix initiation peptide of the highly-conserved 1A domain in keratin K10. This is the first mutation report of a Japanese patient with EHK, although the position and mode of the mutation identified here did not differ from those in reported Western cases.
Amino Acid Sequence↗
Induction of plasma hepatocyte growth factor in acute colitis of mice.
OBJECTIVE AND DESIGN: The study examined plasma levels of hepatocyte growth factor (HGF) in acute colitis models on mice. MATERIALS: Acute colitis was induced in male FVB mice (about 25 g) by intrarectal administration of 200 microliters of 0.5% acetic acid. METHODS: Plasma was taken at 0, 12, 24, 36, 48 and 72 h after acetic acid treatment. Plasma HGF was measured by an enzyme immunoassay in duplicate. RESULTS: Plasma levels of HGF at 0, 12, 24, 36, 48 and 72 h after acetic acid administration were 0.31 +/- 0.11 ng/ml (n = 4), 0.45 +/- 0.04 ng/ml (n = 4), 0.46 +/- 0.13 ng/ml (n = 4), 0.71 +/- 0.22 ng/ml (n = 4), 0.82 +/- 0.15 ng/ml (n = 4) and 0.44 +/- 0.04 ng/ml (n = 4), respectively. Significant increases in plasma HGF levels were observed at 36 and 48 h after the treatment (p < 0.05, compared to at 0 h). CONCLUSIONS: Plasma HGF was induced by acute inflammation of colonic tissues. These findings suggest that HGF in blood may be one of the non-specific markers of inflammation in mice.
Acetic Acid↗
A keratin K5 mutation (Leu 463-->Pro) in a family with the Weber-Cockayne type of epidermolysis bullosa simplex.
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Amino Acid Sequence↗
Dominant dystrophic epidermolysis bullosa albopapuloidea Pasini -- ultrastructural observations of albopapuloid lesions and a type VII collagen DNA polymorphism study of a family.
We describe a case of dominant dystrophic epidermolysis bullosa (DDEB) albopapuloidea Pasini. The patient was a 42-year-old female with albopapuloid lesions on her back, which had developed when she was 17. Histological examination of the albopapuloid lesions showed prominent proliferation of immature collagen bundles and deposition of amorphous material, which stained positively with Alcian blue. Electron microscopy of her albopapuloid lesions revealed marked nodular proliferation of collagen bundles from just beneath the basal lamina to the mid-dermis. In the light of these findings, we speculate that such albopapuloid lesions result from a reactive accumulation of collagen and glycosaminoglycan occurring on the EB skin. A PvuII and AluI polymorphism study of type VII collagen DNA from the patient's family suggests that the candidate gene for DDEB in her pedigree could be the type VII collagen gene.
Adult↗
Clinical evaluation of hepatocyte growth factor in patients with gastrointestinal and pancreatic diseases with special reference to inflammatory bowel disease.
Hepatocyte growth factor (HGF) is widely expressed in the gastrointestinal tract and pancreas. However, the clinical significance of HGF in gastrointestinal and pancreatic diseases remains unclear. To clarify its clinical significance in these diseases, we determined serum HGF in patients with gastrointestinal and pancreatic diseases. Serum HGF was measured in 81 patients with gastrointestinal diseases, pancreatic diseases, and 150 healthy individuals, using a highly sensitive immunoradiometric assay (IRMA). The patients included 55 patients with colonic disorders, 20 with gastric disorders and 6 with pancreatic disorders. Serum HGF levels in patients with inflammatory bowel diseases and chronic pancreatitis were higher than those in normal individuals (p < 0.05, each). Symptomatic patients with inflammatory bowel diseases showed higher values of HGF than symptom-free patients (p < 0.05). Patients with moderately severe or severe ulcerative colitis showed higher values of HGF than patients with mild disease (p < 0.05). Serum HGF values were correlated with C-reactive protein (CRP) and serum HGF changed in parallel with clinical courses in patients with ulcerative colitis. The immunohistochemical study showed that HGF was present around the neutrophils infiltrating into the lamina propria, which was biopsied from endoscopically active colonic mucosa in patients with ulcerative colitis, while little HGF was observed in the inactive mucosa. The results of the present study suggest that serum HGF changes in gastrointestinal and pancreatic diseases, especially in inflammatory bowel diseases.
Adult↗