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  • 1
    Electronic Resource
    Electronic Resource
    TaqI polymorphism in the LDL receptor gene and a TaqI 1.5-kb band associated with familial hypercholesterolemia (1988)
    Springer
    Human genetics 〈Berlin〉 80 (1988), S. 1-5 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The low density lipoprotein (LDL) receptor gene was analyzed in 67 unrelated healthy Japanese and 38 members of six consecutive families with familial hypercholesterolemia (FH) by Southern blot hybridization with TaqI, an LDL receptor cDNA fragment containing exons 1 to 8 being used as a probe. A new TaqI RFLP at the LDL receptor locus was detected with allele frequencies of 0.67 and 0.33. The data obtained with smaller cDNA subfragment probes revealed that the TaqI RFLP site is located within 1.1 kb of the 5′ side of the EcoRI site of exon 5. The TaqI RFLP was in linkage disequilibrium with the PstI RFLP but showed no significant linkage disequilibrium with the RFLPs for AvaII, ApaLI/I15, PvuII, NcoI, and ApaLI/3′. Among the seven RFLPs at the LDL receptor locus, the TaqI RFLP was the only useful genetic marker in one of the six families with FH. Furthermore, the association of an additional TaqI 1.5-kb band with a mutant LDL receptor gene was observed in another family with FH in which the proband was homozygous for all of the seven RFLPs. The data obtained with various restriction enzymes and smaller cDNA subfragments probes suggested that a minor change in nucleotide sequences in the region including exons 5 to 8 is present in the mutant gene. These data suggest that the TaqI RFLP is a useful genetic marker at the LDL receptor locus and that TaqI serves for the analysis of some mutant LDL receptor genes, when used with small LDL receptor cDNA probes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00451446
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  • 2
    Electronic Resource
    Electronic Resource
    Transforming growth factor-alpha (TGF α)-producing gastric carcinoma with acanthosis nigricans: An endocrine effect of TGF α in the pathogenesis of cutaneous paraneoplastic syndrome and epithelial hyperplasia of the esophagus (1997)
    Springer
    Journal of gastroenterology 32 (1997), S. 71-77 
    Details
    ISSN: 1435-5922
    Keywords: acanthosis nigricans ; transforming growth factor-alpha (TGF α) ; epidermal growth factor (EGF) receptor ; gastric carcinoma
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A case of well-differentiated adenocarcinoma (Borrmann type 3) of the stomach in a 76-year-old man associated with the typical skin manifestations of acanthosis nigricans and with multiple protruding lesions showing epithelial hyperplasia of the esophagus is reported. The advanced tumor was located in the cardiac region of the stomach, and measured approximately 8cm in diameter, with partial invasion to the esophagus. The associated cutaneous lesions were characterized by hyperpigmentation and by protruding verrucous papules on the torso, head, face, neck, upper extremities, perineum, and inguinal region. Histologically, the protruding skin lesions showed keratinocytes proliferation throughout the epidermis, resulting in diffhyperkeratosis, papillomatosis, and acanthosis of the skin. Immunohistological analysis showed coexpression of transforming growth factor alpha (TGF-a) and epidermal growth factor (EGF) receptors in the tumor from the stomach. It is reasonable to conclude from this evidence that gastric carcinoma cells secrete TGF α in an autocrine for auto-stimulation. EGF receptor expression was also noted on the papillomatous hyperplasia of the cutaneous lesion. Serum level of TGF α, determined by an enzyme-linked immunosorbent assay, was high (144pg/ml; normal, 22.0 ±16pg/ml (Mean±SD)). Serum TGF α abruptly decreased to 49pg/ml on day 7 after the total gastrectomy, and then gradually increased to 77pg/ml within 28 days. Amelioration of the cutaneous lesions and the protruding lesions in the esophagus was observed after surgical resection of the gastric carcinoma. This suggests that the TGF α stimulates the proliferation of keratinocytes involved with EGF receptor. Large amounts of circulating TGF α in the blood over a long period released by the primary tumor seem to act as an endocrine-like mechanism causing epidermal and esophageal epithelial cells to proliferate. There is a possible link in the pathogenesis of the acanthosis nigricans as a cutaneous paraneoplastic syndrome, and epithelial hyperplasia of the esophagus.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01213299
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  • 3
    Electronic Resource
    Electronic Resource
    Pancreaticoduodenal artery aneurysms associated with celiac axis stenosis due to compression by median arcuate ligament and celiac plexus (1998)
    Springer
    Journal of gastroenterology 33 (1998), S. 434-438 
    Details
    ISSN: 1435-5922
    Keywords: Key words: pancreaticoduodenal artery aneurysm ; celiac axis stenosis ; median arcuate ligament of diaphragm ; celiac plexus
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract: Celiac axis stenosis is frequently associated with pancreaticoduodenal artery aneurysms. Although the cause of stenosis was not clear in most of the reported cases, compression of the median arcuate ligament of the diaphragm was found to be responsible for the stenosis in 7 of 42 reported cases of this type of aneurysm. We report a case of aneurysm caused by compression of the median arcuate ligament of the diaphragm and celiac plexus. An asymptomatic 43-year-old Japanese man was admitted with a low echoic lesion in the uncus of pancreas. Computed tomographic scan and angiogram revealed stenosis of the celiac axis and two aneurysms in the inferior posterior pancreaticoduodenal artery. The celiac plexus and median arcuate ligament were divided surgically and normal flow was reestablished in the celiac axis. One of the aneurysms was resected and the afferent artery of the other aneurysm was ligated. In the setting of pancreaticoduodenal artery aneurysm associated with celiac axis stenosis, management of stenosis should be considered in addition to local treatment of the aneurysm. In this context, division of median arcuate ligament and celiac plexus or aorto-celiac bypass may normalize the flows in the pancreaticoduodenal arcade and could be effective in preventing aneurysm reformation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s005350050109
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  • 4
    Electronic Resource
    Electronic Resource
    Venous tumor thrombosis and cavernous transformation of the portal vein in a patient with gastric carcinoma (1995)
    Springer
    Journal of gastroenterology 30 (1995), S. 529-533 
    Details
    ISSN: 1435-5922
    Keywords: tumor thrombosis ; portal vein ; gastric carcinoma
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A case of extensive extra-and intrahepatic portal tumor thrombosis, with no metastatic foci in liver parenchyma, secondary to advanced gastric carcinoma in a 69-year-old man is reported. The portal tumor thrombosis was characterized by enlargement of the thrombosed segment of the vein, decreased density mass without intraluminal enhancement of the involved vein, nonvisualization of the portal venous branch in the involved lobe, and the so-called cavernous transformation of the portal vein. The surgically resected gastric specimen showed Borrmann type 3 advanced papillary adenocarcinoma. The portal tumor thrombus is presumed to have arisen from vascular invasion in the primary foci of gastric carcinoma, and then to have permeated the portal vein without invasion of liver parenchyma.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02347573
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  • 5
    Electronic Resource
    Electronic Resource
    Primary tubular adenocarcinoma arising in the duodenal limb of reconstructed gastroduodenostomy for signet-ring cell carcinoma of the stomach (1995)
    Springer
    Journal of gastroenterology 30 (1995), S. 657-660 
    Details
    ISSN: 1435-5922
    Keywords: duodenal cancer ; gastric cancer ; metachronous cancer ; adenocarcinoma
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Adenocarcinoma of the small intestine is uncommon. Due to this paucity and the lack of specificity of symptoms, patients are usually seen late in the course of their illness, when curative therapy, mainly represented by extensive surgical resection, is unlikely. The authors report a case of primary well-differentiated tubular adenocarcinoma (T4N0M0) arising in the duodenal limb of a reconstructed Billroth I gastroduodenostomy, 9 years after a distal gastrectomy for signet-ring cell carcinoma of the stomach (T4N0M0). Evidence for excluding the possibility of a recurrence of the primary gastric cancer was based on the different histologic pattern, the long disease-free interval, and other features of the second neoplasm. Relatively early diagnosis of the neoplasm, followed by curative surgical therapy was made possible by the early onset of the obstructive symptoms and the favorable anatomical location of the tumor.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02367794
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  • 6
    Electronic Resource
    Electronic Resource
    Association of the apolipoprotein E4 allele with hypercholesterolemia in apparently healthy male adults in Tokyo (1987)
    Springer
    Journal of human genetics 32 (1987), S. 283-289 
    Details
    ISSN: 1435-232X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary This study was performed to investigate whether the apolipo-protein (apo) E4 allele is associated with hypercholesterolemia in Japanese male adults in large cities. The apo E phenotypes and serum lipid levels were analyzed on 142 apparently healthy male civil servants working in Tokyo. The prevalence of hypercholesterolemia (serum total cholesterol levels〉250 mg/dl) were 4.7% in 106 apo E4-absent subjects and 19.4% in 36 apo E4-present subjects (p=0.012). The prevalence of hypercholesterolemia were 5.3% in 94 subjects with the apo E3/3 phenotype and 20.0% in 30 subjects with the apo E3/4 phenotype (p=0.023). In addition, mean serum total cholesterol levels were significantly higher in the apo E4-present subjects than in the apo E4-absent subjects (213±29.1versus 199±36.0, p〈0.05). The data suggest that the apo E4 allele is associated with hypercholesterolemia in Japanese male adults working in large cities.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01910283
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