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  • 1
    Electronic Resource
    Electronic Resource
    Pearson's marrow/pancreas syndrome: A histological and genetic study (1993)
    Springer
    Virchows Archiv 423 (1993), S. 227-231 
    Details
    ISSN: 1432-2307
    Keywords: Pearson's syndrome ; Mitochondrial DNA ; Diabetes mellitus ; Ragged-red fibre
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A patient with features of Pearson's syndrome who presented with transfusion-dependent severe macrocytic anaemia, neutropoenia, thrombocytopoenia, and insulin-dependent diabetes mellitus in the neonatal period is described. His bone marrow was characterized by marked vacuolization of myeloid precursors and ringed sideroblasts. Autopsy examination revealed fibrosis and steatosis of the liver, reduction in the size and number of the islets, fibrosis and acinar atrophy of the pancreas, vacuolation of renal tubules, glomerulosclerosis, and “ragged red” fibres of skeletal muscles. Analysis of mitochondrial DNA (mtDNA) from the autopsied liver and skeletal muscle showed mtDNA heteroplasmy in both tissues, with one population of mtDNA deleted by 7374 bp. The deleted region was bridged by a single nucleotide, C, in normal mtDNA.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01614775
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome (1998)
    Springer
    Human genetics 〈Berlin〉 103 (1998), S. 168-172 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Peutz-Jeghers Syndrome (PJS) is an autosomal dominant hereditary disease characterized by hamartomatous polyposis involving the entire bowel. Recently STK11, a gene bearing a mutation responsible for PJS, was isolated. We investigated the entire coding region of STK11 in 15 unrelated PJS families by the PCR-SSCP (polymerase chain reaction-single strand conformation polymorphism) method and PCR-direct sequence analysis, and found nine different, novel mutations among ten of those families. One nonsense mutation and five different frameshift mutations (two families carried the same mutation), all of which would cause truncation of the gene product, were found in seven families; mutations found in five families were clustered within exon 6. Among these five mutations, three occurred at the mononucleotide-repeat region (CCCCCC) of codons 279–281, suggesting that this region is likely to be a mutational hotspot of this gene. One of the remaining three families carried a 3-bp in-frame deletion that would eliminate an asparagine residue within a kinase domain of the product; the other two carried intronic mutations at or adjacent to the consensus dinucleotide sequences of splice-acceptor or -donor sites, which were likely to lead to aberrant splicing.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050801
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    The partial characterization and clinical evaluation of pancreas cancer-associated antigen from the ascites fluid of a patient with pancreatic cancer (1991)
    Springer
    Surgery today 21 (1991), S. 365-375 
    Details
    ISSN: 1436-2813
    Keywords: monoclonal antibody ; pancreatic cancer ; tumor marker
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Monoclonal antibodies against pancreas cancer-associated antigen (PCAAp) were produced by established hybridoma cells. Two monoclonal antibodies, 3F1 and 3B6, were selected and these two monoclonal antibodies were found immunohistologically to react strongly with cancer cells and intraductal mucin-like products in well-differentiated pancreatic cancer tissues, but weakly, if at all, with gastric, colorectal and other cancers and at all not with normal adult or fetal pancreatic tissue. PCAAp is usually expressed in normal colonic mucosa (PCAAc), but the two monoclonal antibodies scarcely reacted with normal colonic mucosa. A sandwich enzyme immunoassay was developed to measure circulating PCAAp. Thirty-two normal subjects and 271 patients comprised of 210 with malignant disease and 61 with benign disease were surveyed. The cut-off value of PCAAp levels in the 32 normal subjects was 2.06 μg/ml, being the mean+2SD, while PCAAp levels of more than this were observed in 72 per cent of the patients with pancreatic cancers, 65 per cent of those with bile duct cancers, 60 per cent of those with hepatomas, 0–30 per cent of those with other malignant diseases, and 10 per cent of those with benign hepatobiliary diseases. The susceptibility of isolated PCAAp and PCAAc to various enzymes and chemical reagents were also studied. The results of this study suggest that the assay for PCAAp might be useful in the diagnosis of pancreatic cancer.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02470963
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  • 4
    Electronic Resource
    Electronic Resource
    Malignant schwannoma of the liver (1995)
    Springer
    Digestive diseases and sciences 40 (1995), S. 1279-1282 
    Details
    ISSN: 1573-2568
    Keywords: malignant schwannoma ; liver ; immunohistochemistry ; S-100 ; angiography ; alkaline phosphatase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Malignant schwannoma is the most common soft tissue sarcoma in adults, but primary schwannoma of the liver is extremely rare. We report an autopsy case of malignant schwannoma of the liver in a 63-year-old man. The tumor involved almost the entire right lobe of the liver. Microscopically, it was composed of moderately pleomorphic spindle cells with hyperchromatic nuclei with mitotic figures. The spindle cells were stained positively with antibodies to both S-100 protein and vimentin. Necrosis was found in the primary tumor. Only four other cases of malignant schwannoma of the liver were found in a review of the literature. Perinent features of these tumors are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02065538
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  • 5
    Electronic Resource
    Electronic Resource
    Protective effect of recombinant neutrophil elastase inhibitor (R-020) on sepsis-induced organ injury in rat (1994)
    Springer
    Inflammation 18 (1994), S. 337-347 
    Details
    ISSN: 1573-2576
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Severe inflammatory responses after major surgeries, trauma, and infection develop multiple organ dysfunction. In the mechanisms of the pathogenesis of these responses, activated neutrophils are thought to be important in terms of their ability to produce various kinds of proteinases, which can degrade various proteins constructing human tissues. Among their proteinases, neutrophil elastase is the strongest serine proteinase secreted from activated neutrophils. Thus, we examined in this study the inhibitory effect and therapeutic efficacy of newly produced recombinant human Kunitz-type proteinase inhibitor (R-020), which coded the second domain of human urinary trypsin inhibitor. R-020 was effective in significantly improving the survival rate after induction of the rat lethal peritonitis model (cecal ligation and punctureinduced septic shock model). We suggest that various serine proteinases are implicated in the pathogenesis of neutrophil-related multiple organ failure and that recombinant human Kunitz-type proteinase inhibitor might be effective in the treatment of these kinds of organ dysfunction.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01534432
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  • 6
    Electronic Resource
    Electronic Resource
    Presence of Active Hepatitis Associated with Liver Cirrhosis Is a Risk Factor for Mortality Caused by Posthepatectomy Liver Failure (2000)
    Springer
    Digestive diseases and sciences 45 (2000), S. 1383-1388 
    Details
    ISSN: 1573-2568
    Keywords: liver failure ; hepatectomy ; hepatitis ; hepatocellular carcinoma ; multivariate analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The histologic activity of associated hepatitis was examined in 285 patients who underwent hepatectomy for hepatocellular carcinoma (HCC), to determine if the histologic activity is an independent risk factor for postoperative mortality due to liver failure. The proportion of patients with liver cirrhosis who died due to liver failure (6/180, 3.3%) was not different from that of patients with chronic hepatitis (2/68, 2.9%). However, mortality was higher in patients with liver cirrhosis and active hepatitis (4/46, 8.7%) than in those with cirrhosis and inactive hepatitis (2/134, 1.5%, P 〈 0.05). Such difference was not observed in the chronic hepatitis group. Multivariate analysis showed that clearance of indocyanine green at 15 min (ICGR15) and activity of hepatitis were two independent risk factors for postoperative mortality due to liver failure. In conclusion, histologic activity of associated hepatitis should be taken into account in hepatic resection of HCC in cirrhotic liver, in addition to the functional reserve of the liver.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1005564205755
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  • 7
    Electronic Resource
    Electronic Resource
    Detection of microsatellite alterations in nipple discharge accompanied by breast cancer (2000)
    Springer
    Breast cancer research and treatment 60 (2000), S. 35-41 
    Details
    ISSN: 1573-7217
    Keywords: nipple discharge ; breast cancer ; diagnosis ; loss of heterozygosity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Nipple discharge in breast cancer cases was examined loss of heterozygosity (LOH). DNA samples were extracted from both supernatant and cell pellet components of the discharge, and examined for LOH at microsatellite markers, D11S1818, D11S2000, D16S402, D16S504, D16S518, D17S520, and D17S786. At least one LOH was found in either the supernatant or cell pellet in seven out of 10 patients (70%). Five of seven samples, which were cytologically negative, were LOH positive, and only one case, which was cytologically positive, showed no LOH on the markers examined. All three samples, which were judged ‘negative’ by CEA measurement (〈400 ng/ml), were LOH positive. This method could be a useful novel diagnostic modality for nonpalpable breast cancer with nipple discharge.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1006336110322
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