[Endoscopic therapy of chronic pancreatitis].
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Calculi↗
Biomedical subjects
R Fujita
Publications and source records attributed to R Fujita.
A 530kb YAC contig tightly linked to the Friedreich ataxia locus contains five CpG clusters and a new highly polymorphic microsatellite.
Friedreich ataxia (FA) is a severe autosomal recessive neurodegenerative disease. The defective gene has been previously assigned to chromosome 9q13-q21 by demonstration of tight linkage to the two independent loci D9S15 and D9S5. Linkage data indicate that FRDA is at less than 1 cM from both markers. Previous physical mapping has shown that probes defining D9S15 (MCT112) and D9S5 (26P) are less than 260 kb apart and are surrounded by at least six CpG clusters within 450 kb, which might indicate the presence of "candidate" genes for FA. We isolated and characterized a 530 kb YAC (yeast artificial chromosome) contig that contains five of the CpG clusters. The YACs were used to search for new polymorphic markers needed to map FRDA precisely with respect to the cloned segment. In particular, we found a (CA)n microsatellite polymorphism, GS4, that detects 13 alleles with a PIC value of 0.83 and allows the definition of haplotypes extending over 310 kb when used in combination with polymorphic markers at D9S5 and D9S15.
Base Sequence↗
The gene encoding the human spasmolytic protein (SML1/hSP) is in 21q 22.3, physically linked to the homologous breast cancer marker gene BCEI/pS2.
The human spasmolytic protein, SML1/hSP, an inhibitor of spasmolytic activity and gastric acid secretion in the pig, has been shown to exhibit homology to the pS2 protein, an estrogen-dependent breast cancer marker. Moreover, SML1/hSP and pS2 are expressed at the same localization in the normal stomach and during healing of the gastrointestinal tract. Here we report the chromosomal localization, obtained by in situ hybridization, of the hSP gene (SML1) to chromosome 21 at 21q22.3. Using pulsed-field gel electrophoresis, we found SML1 to be within 230 kb of the BCEI/pS2 gene.
Biomarkers, Tumor↗
[Contributing factors to intellectual impairment in patients with multiple lacunar infarctions].
The author investigated factors leading to intellectual impairment in patients with multiple lacunar infarctions. The subjects consisted of 40 patients with multi-infarct dementia (MID) and 17 nondemented patients with multiple infarctions (MI) who showed multiple lacunar infarctions in the deep penetrating arterial territory on CT. MID patients showed more marked and extensive periventricular lucency (PVL), a higher degree of ventricular index (VI) measured on CT, and were of a higher age, and had poorer activity of daily living (ADL) compared with MI patients. There were significant correlations between the PVL score, VI, ADL score, age and Hasegawa's dementia rating score (HDS). However, no significant differences in sex, site of infarct, and the count of low density areas reflected lacunar infarction on CT, and vascular risk factors were shown between MID and MI patients. Multiple regression analysis demonstrated that the PVL score and VI showed the highest partial correlations for HDS, and that the ADL score and age were also independently contributing factors. Our results suggest that deep white matter lesions observed as PVL on CT and ventricular enlargement were the most important factors contributing to intellectual impairment in patients with multiple lacunar infarcts, and that physical factors such as ADL and age can be considered to be related to the development of dementia.
Activities of Daily Living↗
[Analysis of the electrical charge of albumin in idiopathic nephrotic syndrome by isoelectric focusing].
The state of the electrical charge of serum and urinary albumin was investigated in both the nephrotic and remission stage of idiopathic nephrotic syndrome (INS), using isoelectric focusing (IEF). 1) Both a b2 band (a main albumin band appearing at the site of isoelectric point: pI 4.7), and a b3 band (a more anionic albumin band than the b2 band) were detected commonly in all samples of urine and serum of INS patients in nephrotic and remission stages and of healthy volunteer controls even if the applied albumin in urine and serum amounted to 20 micrograms or 100 micrograms. 2) When applied albumin amounted to 20 micrograms, b1 bands (less anionic albumin bands than the b2 band) were detected between pI 4.7 and pI 6.5 in urine and in both serum and purified albumin fractionated from serum of INS patients in the nephrotic stage. However, b1 bands were not detected at all in the urine and serum of either INS patients in remission stage and healthy volunteer controls. 3) When applied albumin amounted to 100 micrograms, b1 bands were detected also in serum of healthy volunteer controls. From these results, it was confirmed that less anionic albumin existed also in the serum of healthy volunteer controls although the amount was extremely small.(ABSTRACT TRUNCATED AT 250 WORDS)
Albumins↗
[Cardiovascular effects of, and catecholamine response to, high dose fentanyl or NLA in patients for valve replacement].
We measured the cardiovascular effect of, and catecholamine and other hormonal responses to, anesthetic doses of fentanyl and original NLA in 25 patients for open heart surgery. The patients were randomly divided into three groups (group N, F30, F75). During induction, in group N; droperidol 0.25 mg.kg-1 and fentanyl 5 micrograms.kg-1, in group F30; fentanyl 30 micrograms.kg-1, and in group F75; fentanyl 75 micrograms.kg-1 were administered intravenously. Additional fentanyl was administered at a rate of 100 to 200 micrograms.h-1. Droperidol 0.25 mg.kg-1 was administered in group N when cardiopulmonary bypass (CPB) was disconnected. Plasma samples were assayed for norepinephrine, epinephrine, ACTH and cortisol before and after induction, during sternotomy, 60 minutes after institution of CPB, after weaning from CPB, and before as well as after extubation. Heart rate (HR), systolic blood pressure (SBP), diastolic blood pressure (DBP) and rate pressure product (RPP) were calculated simultaneously at the blood samplings. In all groups, no remarkable change in cardiovascular dynamics was observed. CPB was associated with marked increases in catecholamines, but high dose fentanyl in dose of 75 micrograms.kg-1 was able to suppress epinephrine level more than in group N. In high dose fentanyl group (F30, F75) ACTH was within normal ranges, even during CPB. The results suggest that high dose fentanyl is a complete anesthetic in patients for cardiac surgery. But a large dose of fentanyl causes small decreases in heart rate and arterial blood pressure. Our data indicate that group F30 is an attractive anesthetic technique for patients with valvular disease.
Adrenocorticotropic Hormone↗
Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes.
Eleven Acadian families with Friedreich ataxia (FA) who were from southwest Louisiana were studied with a series of polymorphic markers spanning 310 kb in the D9S5-D9S15 region previously shown to be tightly linked to the disease locus. In particular, three very informative microsatellites were tested. Evidence for a strong founder effect was found, since a specific extended haplotype spanning 230 kb from 26P (D9S5) to MCT112 (D9S15) was present on 70% of independent FA chromosomes and only once (6%) on the normal ones. There was no evident correlation between haplotypes and clinical expression. The typing of an additional microsatellite (GS4) located 80 kb from MCT112 created a divergence of the main FA-linked haplotype, generating four minor and one major haplotype. A similar split was observed with GS4 in a patient homozygous for a rare 26P-to-MCT112 haplotype. These results suggest that GS4 is flanking marker for the disease locus, although other interpretations are possible.
Adolescent↗
[Relation between Helicobacter pylori and intractable gastric ulcer--PAS positive intramucosal mucus as an index].
Helicobacter pylori (Hp) is considered to be one of the causes of gastric mucosal injury. Using biopsy specimens from the gastric mucosa of patients with gastritis or gastric ulcer, the intramucosal mucus was quantified by computer image analysis to evaluate its relationship with Hp. In gastric mucosa positive for Hp, the mucus content within the gastric mucosa was significantly decreased. Ammonia was administered based on its assumed role in decreasing the mucus content of the gastric mucosa, and resulted in a decrease in rats to whom it was administered. Based on these results, cases of intractable gastric ulcer were studied. In these intractable cases, Hp was present significantly more often than in other cases and the intramucosal mucus content was significantly lower. These findings suggest that Hp may be a factor in the resistance of gastric ulcer to treatment.
Adult↗
Localization of DNA probes tightly linked to the Friedreich's ataxia locus by in situ hybridization in a case of pericentric inversion of chromosome 9.
The gene for Friedreich's ataxia (FA), an autosomal recessive neurodegenerative disorder, has been recently assigned to the long arm of chromosome 9. Linkage disequilibrium between FA and two diverse chromosome 9 markers, D9S5 and D9S15, has been detected in French, French-Canadian and Italian populations. Here, we report the physical localization of these loci by in situ hybridization of probes 26P and MCT112S identifying the D9S5 and D9S15 loci, respectively. Experiments performed on lymphocytes carrying a chromosome 9 pericentric inversion have allowed us to assign both the loci to band 9q21. Furthermore, in situ hybridization data and partial sequencing of the probe MCT112S indicate the presence of alphoid satellite DNA within this region. This suggests that MCT112S is more proximal to the centromere than 26P.
Base Sequence↗
Physical mapping of two loci (D9S5 and D9S15) tightly linked to Friedreich ataxia locus (FRDA) and identification of nearby CpG islands by pulse-field gel electrophoresis.
The Friedreich's ataxia locus (FRDA) has recently been mapped to 9q13-q21 by tight linkage to D9S15 and D9S5 loci. The present lack of recombination between these loci precludes further genetic mapping and suggests that the distances involved are in the megabase range. We have established a 1-Mb map around loci D9S15 (defined by probe MCT112) and D9S5 (defined by probe DR47) and found that they are at most 260 apart. Six rare cutting site clusters were found in a 450-kb segment containing both loci. Three clusters were completely unmethylated in two cell lines tested and might correspond to CpG islands flanking transcribed sequences. Cosmid mapping of a 52-kb region around D9S5 and pulse-field gel electrophoresis analysis showed the presence of three other CpG clusters that were partially or completely methylated. Two of them were present in the cosmid clones available and were associated with sequences conserved in other vertebrate species. The CpG islands and conserved sequences presented here can be used to search for genes defective in Friedreich's ataxia.
Animals↗
[Crossed cerebellar atrophy following cerebrovascular lesions].
A neuroradiological study of crossed cerebellar atrophy (CCA) was performed using X-ray CT in 103 patients suffering from unilateral supratentorial cerebrovascular diseases. CCA was demonstrated in 9 (8.7%) of 103 patients. No difference between the occurrence of CCA in cerebral hemorrhage and that in cerebral infarction was found. CCA was seen in the chronic stage of cerebrovascular disease more than 3 years since stroke occurrence, and was found to be present more frequently and to a greater extent 7 years later. No correlation between the site of bleeding and the occurrence of CCA was found. Trans-synaptic degeneration of the corticopontocerebellar tract was considered in CCA following putaminal and combined hemorrhage involving an internal capsule lesion. However, in thalamic hemorrhage, retrograde degeneration within the cerebellorubrothalamic tract was presumed. CCA following cerebral infarction was seen in patients with massive lesions in the territory of the middle cerebral artery. Multivariate analysis showed that lesions of the parietal and frontal lobes appeared to greatly contribute to the development of CCA. As the degeneration and atrophy in the thalamus on the side of the lesion appeared early and frequently, it was suggested that retrograde degeneration of the cerebellorubrothalamic tract participated, in addition to anterograde corticopontocerebellar tract degeneration, in CCA following middle cerebral artery infarction. It is likely that CCA is caused by both transsynaptic degeneration of the corticopontocerebellar tract and the cerebellorubrothalamic tract.
Aged↗
[Changes in granulocyte elastase caused by the use of ulinastatin during anesthesia for renal transplantation].
In patients with renal failure, releases of chemical mediators having inhibitory influences on organs and circulatory system have been observed. Therefore, in long-term dialysis patients, it is necessary to consider the biocompatibilities of the equipment for dialysis. On 13 cases of renal transplantations, we measured the pre- and post-operative changes of granulocyte elastase (GE) and evaluated the effect of ulinastatin. The renal transplanted patients receiving a long-term dialysis showed higher GE values than that of normal patients even before the operation. During the anesthesia, GE increased gradually and further increased after the operation. In patients given ulinastatin during anesthesia, the increase in GE during the operation was suppressed but an increase after the operation was observed. The renal transplanted patients are easily infectible. Therefore, it is useful to measure GE pre- and post-operatively for earlier diagnosis of the postoperative infection and septicemia. The administration of ulinastatin can inhibit the increase of GE. It seems that ulinastatin increases renal blood flow and improves renal function.
Adult↗
[A comparison of induced hypotensive anesthesia using trimetaphan, prostaglandin E1 and nicardipine for neurosurgery].
We performed hypotensive anesthesia using trimetaphan, prostaglandin E1, or nicardipine for eighteen patients undergoing cerebral aneurysm clipping. We measured the hemodynamic parameters (systolic arterial pressure, diastolic arterial pressure, and heart rates), concentration of catecholamines in blood (epinephrine, norepinephrine), blood platelet counts, and aggregation of blood platelets, before induction of anesthesia, before induced hypotension, during hypotension, after hypotension, and at the end of operation. Hypotension was produced rapidly, and hemodynamics was stable with any of the three drugs. In trimetaphan group, however, recovery time of arterial pressure was longer than in other two groups. There was no significant change of catecholamine during induced hypotension in prostaglandin E1 and nicardipine groups. However, in trimetaphan group, concentration of norepinephrine in blood decreased significantly during hypotension. No significant change was observed in either platelet count or platelet aggregation. These results suggest that trimetaphan has an effect to suppress excretion of stress hormones, and prostaglandin E1 and nicardipine have no influence on blood catecholamine levels and aggregation of platelet. We consider that nicardipine is useful as a hypotensive drug for neurosurgery.
Alprostadil↗
Prenatal diagnosis of Friedreich ataxia.
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Female↗
Long-term follow-up of a paediatric case of lipoprotein glomerulopathy.
A paediatric case of lipoprotein glomerulopathy, a new kidney disease characterized by glomerular lipoprotein thrombi, is reported. The patient had massive proteinuria from the age of 8 years, when the nephrotic syndrome was first detected. This was resistant to conventional treatment for more than 10 years. During the course of the disease, the hyperlipidaemia characteristic of hyper-pre-beta-lipoproteinaemia and elevation of apoprotein E persisted, and renal function gradually deteriorated. The renal histopathological findings from four biopsies were essentially the same, with storage of beta-lipoprotein in dilated, balloon-like glomerular capillary lumina. However, the number of glomeruli showing global sclerosis increased and tubulo-interstitial changes progressed in parallel with the gradual clinical deterioration. As in other cases reported in Japan some familial involvement has been noted.
Apolipoproteins E↗
Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia.
The gene for Friedreich ataxia (FA), a severe recessive neurodegenerative disease, has previously been shown to be tightly linked to the polymorphic markers D9S15 and D9S5 on human chromosome 9. In addition, the observation of linkage disequilibrium suggested that D9S15 is within 1 centimorgan (cM) of the disease locus, FRDA. Although D9S5 did not show recombination with FRDA, its localization was less precise (0-5 cM) due to its lower informativeness. We have now identified additional polymorphisms at both marker loci. Two cosmids spanning 50 kilobases around D9S5 were isolated, and a probe derived from one of them detects an informative three-allele polymorphism. We have found a highly polymorphic microsatellite sequence at D9S15 which is rapidly typed by the DNA polymerase chain reaction. The polymorphism information contents at the D9S5 and D9S15 loci have been increased from 0.14 to 0.60 and from 0.33 to 0.74, respectively. With the additional polymorphisms the lod (log10 odds ratio) score for the D9S15-FRDA linkage is now 48.10 at recombination fraction theta = 0.005 and for D9S5-FRDA, the lod score is 27.87 at theta = 0.00. We have identified a recombinant between D9S15 and FRDA. However, due to the family structure, it will be of limited usefulness for more precise localization of FRDA. The linkage disequilibrium previously observed between D9S15 and FRDA is strengthened by analysis of the haplotypes using the microsatellite polymorphism, while weaker but significant disequilibrium is found between D9S5 and FRDA. Extended haplotypes that encompass D9S5 and D9S15 show a strikingly different distribution between chromosomes that carry the FA mutation and normal chromosomes. This suggests that both marker loci are less than 1 cM from the FRDA gene and that a small number of mutations account for the majority of FA cases in the French population studied. D9S5 and D9S15 are thus excellent start points to isolate the disease gene.
Cell Line↗
[Use of vecuronium bromide for anesthesia for renal transplantation].
We used vecuronium on 7 patients for renal transplants and recorded the muscle relaxant effect using an Anesthesia and Brain Monitor; we also compared them with patients with normal renal function. Results show that there were no significant differences between renal transplant patients and patients with normal renal functions in regard to the time of appearance of effect, duration of effect and recovery rate but the effect was somewhat prolonged in the renal transplant patients. Therefore, although vecuronium is said to be a muscle relaxant with little renal dependency, and it is used on renal transplant patients with renal insufficiency, the possibility of a prolonged effect must be considered. It is important to monitor continuously by a muscle relaxant monitor, grasp adequately the conditions of muscle relaxation, and observe carefully the postoperative respiratory conditions.
Adult↗
The Friedreich ataxia gene is assigned to chromosome 9q13-q21 by mapping of tightly linked markers and shows linkage disequilibrium with D9S15.
Chamberlain et al. have assigned the gene for Friedreich ataxia (FA), a recessive neurodegenerative disorder, to chromosome 9, and have proposed a regional localization in the proximal short arm (9p22-cen), on the basis of linkage to D9S15 and to interferon-beta (IFNB), the latter being localized in 9p22. We confirmed more recently the close linkage to D9S15 in another set of families but found much looser linkage to IFNB. We also reported another closely linked marker, D9S5. Additional families have now been studied, and our updated lod scores are z = 14.30 at theta = .00 for D9S15-FA linkage and z = 6.30 at theta = .00 for D9S5-FA linkage. Together with the recent data of Chamberlain et al., this shows that D9S15 is very likely within 1 cM of the FA locus. We have found very significant linkage disequilibrium (delta Std = .28, chi 2 = 9.71, P less than .01) between FA and the D9S15 MspI RFLP in French families, which further supports the very close proximity of these two loci. No recombination between D9S5 and D9S15 was found in the FA families or Centre d'Etude du Polymorphisme Humain families (z = 9.30 at theta = .00). Thus D9S5, D9S15, and FA define a cluster of tightly linked loci. We have mapped D9S5 by in situ hybridization to 9q13-q21, and, accordingly, we assign the D9S5, D9S15, and FA cluster to the proximal part of chromosome 9 long arm, close to the heterochromatic region.
Alleles↗