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1.
Alberto Castilla M.D. Joan Camps-Bansell M.D. Maria-Pilar Civeira M.D. Jesús Prieto M.D. 《The American journal of gastroenterology》1993,88(2):233-239
Forty patients with chronic hepatitis C (CHC) were included in an open randomized controlled trial of lymphoblastoid α-interferon (L-IFN) versus no treatment. Twenty patients entered each group, and features of therapy and control cases were similar. L-IFN was given in low doses (1.5-4.5 megaunits) for 1 yr. In 16 of 20 patients treated with L-IFN (80%), but in only one of 20 nontreated cases (0.5%; p < 0.001), aminotransferase activities became normal. In four patients there was a reactivation of the disease during treatment after 4, 5, 6, and 8 months with normal aminotransferase levels. A posttherapy reactivation of hepatitis was observed in four additional cases after 1, 1, 1, and 3 months of follow-up. The other eight patients (40%) continued with normal aminotransferase levels for 1.52 ± 0.74 (range, 1-2.1) yr after IFN doses were discontinued. In all treated patients except two nonresponders, but in only one of 20 nontreated cases ( p < 0.001), Knodell's histological activity index decreased. Procollagen type III aminoterminal peptide levels did not change significantly in nontreated and nonresponder patients, diminished slightly in patients with a transient response, and normalized in cases with a long-standing response, suggesting that this serum test may be a reliable marker for monitoring response to IFIN therapy in patients with CHC. Finally, L-IFN treatment induced significant increments in CD4/CD8 index, phytohemagglutinin-induced blastogenesis, and natural killer activity. This study shows that L-IFN diminish inflammatory and fibrogenic activity in most patients with CHC. In 40% of patients treated in this trial, a long-standing remission of the disease was observed. 相似文献
2.
Eduardo E. Castilla María Luísa Martínez-Frías 《American journal of medical genetics. Part A》1995,58(2):106-112
Congenital “healed” cleft lip (CHCL) is an unusual anomaly including a paramedian “scar” of the upper lip, which appears as if a typical cleft lip has been corrected in utero. The CHCL is frequently associated with an ipsilateral notch in the vermilion, and “collapsed” nostril. Twenty-five CHCL cases are presented, eighteen of which were an isolated malformation found among the 3,950,715 births examined in two similar birth defect registries: ECEMC in Spain and ECLAMC in Latin America. Like open cleft lip, of which it seems to be a variant, CHCL is most frequently seen among males (14/18 isolated cases), it preferentially affects the left side (10/18 cases), and it segregated together with cleft lip in one family. The five CHCL cases with other congenital anomalies included: two cases with hydrocephalus, two VACTERL associations, and one atypical oblique facial cleft infant with single umbilical artery. CHCL may result from a defective fusion of the frontonasal and maxillary processes (before week 7 of embryonic life), or from a spontaneously repaired open cleft lip, later on. In either way, these cases heal with a visible scar, and the pre-occurrence of CHCL in two families suggests a familial predisposition to this phenomenon. © 1995 Wiley-Liss, Inc. 相似文献
3.
Serial radionuclide studies using both Tc-99m DTPA (perfusion) and I-131 hippuran (tubular function) were correlated with histologic findings in 25 patients with renal transplants. These cases included 15 cases of cyclosporin-A nephrotoxicity (CsA-NT) and ten cases of acute cellular rejection that were retrospectively selected on the basis of biopsy findings and favorable clinical response to therapy specific for each of these conditions. The serial radionuclide studies enabled the correct diagnosis in 12 of 15 cases of CsA-NT and eight of ten cases of acute rejection. Posttherapy radionuclide studies, furthermore, demonstrated improvement consistent with clinical response. In all cases, the radionuclide results were available at least 24 hours before biopsy findings. These results indicate that serial radionuclide studies evaluating interval changes in both perfusion and tubular function are of significant value in the diagnosis and follow-up of CsA-NT and acute cellular rejection in transplant recipients. This initial experience suggests a sensitivity of 80%. 相似文献
4.
Epidemiology of ambiguous genitalia in South America 总被引:1,自引:0,他引:1
E E Castilla I M Orioli R Lugarinho G Dutra 《American journal of medical genetics》1987,27(2):337-343
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Interobserver variability in determining MIB-1 labeling indices in oligodendrogliomas 总被引:1,自引:0,他引:1
Prayson RA Castilla EA Hembury TA Liu W Noga CM Prok AL 《Annals of diagnostic pathology》2003,7(1):9-13
Several studies have shown that MIB-1 labeling indices correlate well with tumor grade and prognosis in a variety of tumor types. Several factors are responsible for some degree of variability in the determination of labeling indices. Interobserver variability is one of the factors often cited as responsible for this variability. A slide from each of 30 oligodendrogliomas, stained with MIB-1 antibody, was distributed to six pathologists. The same set of slides was reviewed by each individual. Each pathologist was instructed to determine a MIB-1 labeling index by evaluating 1,000 tumor cell nuclei from the area of the slide with the most staining. The labeling index record reflected a percentage of positive-staining tumor cells. Interobserver agreement was compared. MIB-1 labeling indices ranged from 0 to 45.7. Overall agreement was good (> or =0.75) with a concordance coefficient of 0.832 (confidence interval, 0.700 to 0.909). Variability was greater among tumors with higher labeling indices as compared with tumors with labeling indices closer to 0. The overall agreement of MIB-1 labeling indices, while not perfect, was good. The generally minor variability among observers may be related to differences in the area of the slide evaluated and in differing lower thresholds for interpreting positivity. Further improvement of concordance may theoretically be attainable by further training and discussion among observers. 相似文献
9.
Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity 总被引:13,自引:5,他引:13
Eichler EE; Budarf ML; Rocchi M; Deaven LL; Doggett NA; Baldini A; Nelson DL; Mohrenweiser HW 《Human molecular genetics》1997,6(7):991-1002
A 9.7 kb segment encompassing exons 7-10 of the adrenoleukodystrophy (ALD)
locus of the X chromosome has duplicated to specific locations near the
pericentromeric regions of human chromosomes 2p11,10p11, 16p11 and 22q11.
Comparative sequence analysis reveals 92-96% nucleotide identity,
indicating that the autosomal ALD paralogs arose relatively recently during
the course of higher primate evolution (5-10 million years ago). Analysis
of sequences flanking the duplication region identifies the presence of an
unusual GCTTTTTGC repeat which may be a sequence-specific integration site
for the process of pericentromeric- directed transposition. The breakpoint
sequence and phylogenetic analysis predict a two-step transposition model,
in which a duplication from Xq28 to pericentromeric 2p11 occurred once,
followed by a rapid distribution of a larger duplicon cassette among the
pericentromeric regions. In addition to facilitating more effective
mutation detection among ALD patients, these findings provide further
insight into the molecular basis underlying a pericentromeric-directed
mechanism for non- homologous interchromosomal exchange.
相似文献
10.
Congenital malformations in twins: an international study 总被引:9,自引:0,他引:9
Mastroiacovo P Castilla EE Arpino C Botting B Cocchi G Goujard J Marinacci C Merlob P Métneki J Mutchinick O Ritvanen A Rosano A 《American journal of medical genetics》1999,83(2):117-124
Data provided by nine registries based in European and Latin America countries were analyzed to assess whether there is an excess of malformations in twins compared to singletons. Specific congenital malformations were coded according to the ninth revision of the International Classification of Diseases (ICD). Malformation rates and rate ratios (RR) for twins compared to singletons were calculated for each registry, and the homogeneity of the RRs was tested using the test of Breslow and Day. If departure from homogeneity in the different registries was not significant, registry-adjusted RRs with 95% confidence intervals were calculated. Overall, among 260,865 twins, 5,572 malformations were reported. A total of 101 different types of malformations or groups of defects was identified, and a homogeneous estimate of the RRs among registries was found for 91.1% of the malformations. Thirty-nine of the 92 malformations with homogeneous estimates of RRs were more common in twins than in singletons. For the remaining nine malformations, heterogeneous estimates of RRs were obtained. This study confirms the majority of already known associations and further identifies previously unreported malformations associated with twins. In conclusion, there is an excess of malformations in twins compared with singletons, and all anatomical sites are involved. The number of specific malformations associated with twins is higher than that previously reported in smaller studies. 相似文献