Carcinoma in a colon J pouch reservoir after low anterior resection for villous adenoma.
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Biomedical subjects
Publications and source records attributed to H Yanagi.
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Glucagonoma is a rare islet cell tumor of pancreas. Only 122 proven cases have been reported in the English literature so far. Diagnosis of glucagonoma has usually been delayed. The average size of clinically detected glucagonomas was 5.8 cm, and 54.7% of them exhibited metastasis. We describe the case of a 0.7-cm asymptomatic pancreatic glucagonoma. A 45-yr-old female was demonstrated to have a demarcated, small, low echoic mass in the pancreatic head by routine ultrasonography. Table incremental dynamic computed tomography showed a small well-enhanced mass recognized only in an early phase. A 0.7 x 0.7 cm firm nodule on the pancreatic head was excised at operation. Immunohistochemical and ultrastructural studies revealed that this tumor was a glucagon-producing adenoma. This may be the smallest glucagonoma detected by image diagnostics that has been reported in the English literature. Possible early detection of glucagonoma was discussed in this report.
A questionnaire survey of ten institutions in Japan revealed that restorative proctocolectomy accounted for 81.8% of the surgical procedures performed in patients with UC in the last 5 years (1989-1993); ileoanal anastomosis (IAA) and ileo-anal canal anastomosis (IACA) were performed in 63% and 33% of these patients, respectively. Comparison of the two series showed that IACA was technically simpler and yielded better continence, but that it entailed a potential risk of recurrence of the disease in the remaining anal canal mucosa. Although IACA seems to be a useful surgical option for UC, until the long-term outcome of the procedure can be elucidated. It may be better regarded as a very low variation of IRA rather than as an improved technical version of IAA.
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A novel complex mutation with the presence of both deletion and insertion in very close proximity in the same region was detected in exon 8 of the LDL receptor gene from two apparently unrelated Japanese families with familial hypercholesterolemia (FH). In this mutant LDL receptor gene, the nine bases from nucleotide (nt) 1115 to nt 1123 (AGGGTGGCT) were replaced by six different bases (CACTGA), and consequently the four amino acids from codon 351 to 354, Glu-Gly-Gly-Tyr, were replaced by three amino acids, Ala-Leu-Asn, in the conserved amino acid region of the growth factor repeat B of the LDL receptor. The nature of the amino acid substitution and data on the families suggest that this mutation is very likely to affect the LDL receptor function and cause FH. The generation of this complex mutation can be explained by the simultaneous occurrence of deletion and insertion through the formation of a hairpin-loop structure mediated by inverted repeat sequences. This this mutation supports the hypothesis that inverted repeat sequences influence the stability of a given gene and promote human gene mutations.
This study was undertaken to define the accuracy of two-dimensional echocardiography in the determination of left ventricular end-diastolic and end-systolic volumes, stroke volume, ejection fraction, and mass when compared to ultrafast cine computed tomography in the same 56 patients. Single-plane and biplane modified Simpson's rule, single-plane and biplane ellipsoidal formula, bullet formula (biplane only), and biapical Simpson's rule methods were utilized. Linear regression analysis showed the strongest correlation with the modified biplane Simpson's rule (mean r = 0.897). In valvular heart disease (n = 12) and dilated cardiomyopathy (n = 6), the mean correlation coefficients for all methods were high (r = 0.894 and 0.911, respectively). The mean correlation coefficient for all methods in patients with prior myocardial infarction (n = 25) was relatively poor (r = 0.643). Intraobserver and interobserver variabilities for all methods were low (r = 0.980 and 0.965, respectively). It is concluded that calculations of left ventricular volumes and mass by two-dimensional echocardiography are accurate and reproducible in patients with a global effect on the left ventricle and were less acceptable in patients with segmental (ischemic) left ventricular involvement. The best measurement technique is a modified biplane Simpson's rule.
We examined the effect of Steel factor (SLF) on the development of human mast cells in hematopoietic colonies from cord blood mononuclear cells in methylcellulose culture. When cord blood cells were cultured for 3 weeks, SLF increased the cellular tryptase levels detected in total cultured cells. It also stimulated the formation of small-cell colonies consisting mainly of polymorphonuclear granulocytes and immature blastoid cells in a concentration-dependent manner but not the formation of colonies consisting of large macrophagic cells. A low percentage of tryptase-positive mast-cell-like cells was found in 39 out of 100 granulocyte/blastoid cell colonies. Four of the 100 colonies contained 10-20% tryptase-positive cells, but we failed to observe colonies consisting of > 20% of tryptase-positive cells. These results suggest that the effect of SLF on mast cell growth is brought on by stimulating the growth of primitive hematopoietic progenitors.
Pathological findings of the fingers and toes were studied in finger and toe skin specimens from 21 male patients with vibration syndrome and 13 referent male cadavers. Thickening of the medial muscle layer of small arteries or arterioles, and increase of collagen fibers in the connective tissues, especially in perivascular regions, were noted in not only the finger but also the toe in patients with vibration syndrome. The ratio of the media/external diameter in the finger and toe was significantly greater in the patients than in the referents, even in the patients who had operated chain saws, bush cutters or grinders and had not been exposed to vibration of the foot directly. And the ratio in the finger was approximately parallel with that in the toe in the same subject. The present findings pathohistologically confirmed the existence of circulatory disturbances in the feet as well as the hands. The medial thickening of arteries and perivascular fibrosis in the toe can result from not only direct vibration exposure of the foot, but also long-term repeated vasoconstriction and circulatory disturbances in the foot through the activation of the sympathetic nerve system caused by hand-arm vibration.
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BACKGROUND: We evaluated the ability of magnetic resonance imaging (MRI) to define local extension of rectal carcinoma. STUDY DESIGN: Thirty-three patients with rectal carcinoma were preoperatively assessed by MRI. RESULTS: When sagittal or coronal images, or both, were added to transverse images as needed, the sensitivity rate was 84.2 percent and the specificity rate was 92.9 percent. False-positive results when using only transverse images were mainly related to slight extramural spread, to an anterior location in the lower rectum (partial volume effect), and to massive extramural spread of the middle rectal tumors. CONCLUSION: Preoperative MRI was helpful to define tumor extension three-dimensionally.
Primary hypoalphalipoproteinemia is associated with atherosclerosis and exhibits significant familial aggregation. To reveal the presence of autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene, the apolipoprotein A-I gene was analyzed in a Japanese family with low levels of HDL cholesterol and apolipoprotein A-I. An insertion of a C in the region of the seven C run between codons 3 and 5 was detected in the apolipoprotein A-I gene. The heterozygous state for the mutation was associated with approximately 50% of the normal HDL cholesterol levels and of the normal apolipoprotein A-I levels. The data suggest that a part of familial hypoalphalipoproteinemia might be an autosomal dominant trait due to a completely defective apolipoprotein A-I gene.
The effects of preoperative intraluminal brachytherapy on bowel function after anoabdominal rectal resection and colonic J pouch-anal anastomosis were studied. The patients included eight not receiving irradiation (group 1), eight who received 30 Gy (group 2) and eight who received 80 Gy (group 3). Stool frequency and the incidence of soiling were significantly greater in group 3 than in the other groups. Anal resting pressure was lower in group 3 during the study period but J pouch distensibility was not reduced. The maximum tolerated volume, threshold volume and squeeze pressure were significantly lower in group 3 than in the other groups in the early postoperative period. These results suggest that high-dose brachytherapy affects the anal sphincters and colonic J pouch. A moderate dose of 30 Gy may be more suitable before restorative anorectal surgery.
The fragile X mutation is the result of amplification in the repeat number of p(CGG)n in FMR-1; alleles with more than 52 repeats have been shown to be so unstable as to mutate in the repeat number in almost every transmission. To improve our understanding of mutations in normal alleles of FMR-1, the following studies were carried out in the Japanese population: a study on length variation in the repeat to determine the allele distribution of the repeat length in a non-retarded population, family studies to observe new mutations in normal allele, and haplotype analyses with microsatellite markers flanking the repeat to confirm estimated mutation rates and founder chromosomes in the fragile X syndrome. Analysis of the p(CGG)n in 370 unrelated males detected 24 distinct alleles with repeats of 18-44. A comparison with previously reported data suggests the presence of racial/ethnic differences in the allele distribution. No premutation allele was found in 824 unrelated X chromosomes examined by the polymerase chain reaction and Southern blot analysis. Family studies detected one new mutation in a total of 303 meioses. However, the mutation rate was not in accordance with the expected or observed heterozygosities in the population or with linkage disequilibrium observed between the repeat numbers and the haplotypes of the markers flanking the CGG. The haplotype in the chromosome in which the new mutation was found was the same as that frequently found in the Japanese fragile X chromosomes, and the variance in the CGG repeat number was wider in chromosomes with the haplotypes frequently found in the fragile X chromosome than in those with the other haplotypes. These observations suggest that a subgroup is present in normal alleles and that this subgroup is more liable to mutate than others.
We have developed a sensitive, high-resolutin method for the analysis of the apolipoprotein(a) [apo(a)] isoforms using sodium dodecyl sulfate (SDS)-agarose/gradient polyacrylamide gel electrophoresis. In an analysis of the genetic polymorphism of apo(a) isoforms and their relationship with plasma lipoprotein(a) [Lp(a)] levels in Japanese and Chinese, this method identified 25 different apo(a) isoforms and detected one or two apo(a) isoforms in more than 99.5% of the individuals tested. The apparent molecular weights of the apo(a) isoforms ranged from 370 kDa to 950 kDa, and 22 of the 25 different apo(a) isoforms had a higher molecular weight than of apo B-100. Studies on Japanese families confirmed the autosomal codominant segregation of apo(a) isoforms and the existence of a null allele at the apo(a) locus. The observed frequency distribution of apo(a) isoform phenotypes fit the expectations of the Hardy-Weinberg equilibrium in both the Japanese and Chinese populations. Our data indicate the existence of at least 26 alleles, including a null allele, at the apo(a) locus. The frequency distribution patterns of the apo(a) isoform alleles in Japanese and Chinese were similar to each other and also similar to that of apo(a) gene sizes reported in Caucasian American individuals. The average heterozygosity at the apo(a) locus was 92% in Japanese and 93% in Chinese. A highly significant inverse correlation was observed between plasma Lp(a) levels and the size of apo(a) isoforms in both the Japanese (r = 0.677, P = 0.0001) and the Chinese (r = -0.703, P = 0.0001).(ABSTRACT TRUNCATED AT 250 WORDS)
School-age children with high lipoprotein(a) [Lp(a)] levels were screened and family studies were conducted to examine the relationship between high Lp(a) levels and apolipoprotein(a) [apo(a)] isoforms in families. All the probands from 17 families had one of the A2 to A12 apo(a) isoforms, which are the smaller apo(a) isoforms of the 25 different isoforms thus far detected. The ratio of subjects with high plasma Lp(a) levels was 0.47 among the first-degree relatives. All 15 relatives with high plasma Lp(a) levels shared one of the small apo(a) isoforms with the proband in each family, while 16 of 17 relatives with normal Lp(a) levels did not. These data indicate the frequent occurrence of familial aggregations of high Lp(a) levels associated with one of the small apo(a) isoforms.
The solution structure of the 38 amino acid C-terminal region of the precursor for the HPLC-6 antifreeze protein from winter flounder has been investigated with molecular dynamics using the AMBER software. The simulation for the peptide in aqueous solution was carried out at a constant temperature of 0 degree C and at atmospheric pressure. The simulation covered 120 ps and the results were analyzed based on data sampled upon reaching a stable equilibrium phase. Information has been obtained on the quality of constant temperature and pressure simulations, the solution structure and dynamics, the hydrogen bonding network, the helix stabilizing role of terminal charges and the interaction with the surrounding water molecules. The Lys18-Glu22 interactions and the terminal charged residues are found to stabilize a helical structure with the side chains of Thr2, Thr13, Thr24 and Thr35 equally spaced on one side of the helix. The spacing between oxygen atoms in the hydroxyl group of the threonine side chains exhibits fluctuations of the order of 2-3 A during the 120 ps of simulation, but values simultaneously close to the repeat distance of 16.6 A between oxygen atoms along the [0112] direction in ice are observed. Furthermore, two engineered variants were studied using the same simulation protocol.
To determine whether protein tyrosine kinase (PTK) could be utilized as a biological indicator of colonic tumorigenesis, we examined the PTK activity in the cytosolic and particulate fractions of homogenates from 25 adenomas (polyps) and from adjacent normal mucosa. The particulate fraction PTK activity in the colorectal adenomas was significantly higher than in the normal mucosa. The adenomas were then analyzed according to size, histological type (tubular and tubulovillous), and degree of dysplasia (mild, moderate and severe). The average particulate fraction PTK activity ratio (adenoma/normal mucosa) of tubulovillous adenomas or adenomas with moderate to severe dysplasia was significantly elevated in comparison with that of tubular adenomas or adenomas with mild dysplasia. The particulate PTK activity ratio increased significantly with increasing adenoma size, while the cytosolic ratio did not. The cytosolic PTK activity ratio in tubulovillous adenomas or adenomas with severe dysplasia decreased significantly with increasing size. These findings suggest that colonic carcinogenesis might be associated with alterations in the cellular level of PTK activity and that the PTK activity ratio (adenoma/normal mucosa) in the particulate and/or cytosolic fractions may possibly correlate with the risk of malignant transformation.