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排序方式: 共有1319条查询结果,搜索用时 15 毫秒
1.
Background
Reports on childhood cancer survivors estimated cumulative probability of developing secondary neoplasms vary from 3,3% to 25% at 25 years from diagnosis, and the risk of developing another cancer to several times greater than in the general population. 相似文献2.
Ana Berta Sousa Ana Medeira Binita M Kamath Nancy B Spinner Isabel Cordeiro 《Revista portuguesa de cardiologia》2006,25(4):447-452
Although most congenital heart defects are isolated abnormalities of embryonic development, with little genetic contribution, a small number are components of syndromes. In such cases, an accurate diagnosis has important implications for individual prognosis and familial genetic counseling. Alagille syndrome (AGS) is a dominantly inherited multisystem developmental disorder, which primarily affects the liver, heart, eyes, skeleton, and face. In recent years, the identification of the AGS gene has drawn attention to the existence of subclinical carriers, and broadened the spectrum of phenotypical variation associated with this syndrome. The authors present a case of mother and son with benign stenosis of the pulmonary artery branches. Subtle facial aspects suggested the diagnosis of AGS, which was confirmed by molecular analysis. Relevant clinical investigations and diagnostic implications are discussed. 相似文献
3.
Suzanne D. LeBlang M.D. Diego B. Nuñez M.D. Anton Serafini M.D. Robert C. Duncan Ph.D. M. Judith Donovan Post M.D. Berta M. Montalvo M.D. Jose I. Becerra M.D. 《Emergency radiology》1997,4(4):191-199
The purpose of this study was to evaluate the ability of helical computed tomography (CT) to detect arterial injuries in gunshot wounds to the neck. In a blinded retrospective review, 54 helical CT scans of the cervical spine were evaluated for bullet/bone fragments, subcutaneous air, bullet path, hematoma, spine fractures, and pharyngoesophageal compromise. The distance of fragments to a major vessel was calculated. CT findings that correlated significantly with major arterial injury included the presence of fragments (bullet/bone) close to a major vessel (2.5 mm) and spine fractures. Visualizing fragments <5 mm from a vessel or a transcervical bullet trajectory predicted 12 of 13 major arterial injuries. We conclude that CT clearly depicts anatomic damage. Specific findings, such as the location of fragments and bullet trajectory adjacent to a vessel and spine fractures, indicate a higher probability of vascular damage, thus directing more definitive evaluation. 相似文献
4.
Years of speculations about the nature of the elusive testis determining factor (TDF) of the Y chromosome have ended last year. A gene named SRY satisfies many criteria expected of the testis determining gene, and gives us a basis to understand molecular mechanisms of the testis differentiation. The different steps which gave rise to SRY cloning are described. 相似文献
5.
L Berta N Fortunati P Gennari M Appendino A Casella R Frairia 《Fertility and sterility》1991,56(4):788-789
Plasma gonadotropin FSH and LH, PRL, sex steroids (17-beta E2, E1, and P), SBP binding capacity, and urine estrogens (E1, E2, and E3) were measured in 485 premenopausal healthy women, subdivided according to smoking habits. The aim of the study was to verify if cigarette smoking influences sex hormone balance. Baseline PRL levels were significantly lower (P less than 0.002) in smoker (n = 174) than in nonsmoker (n = 311) women. No difference was found in the other parameters of the two groups, particularly in plasma and urine estrogenic pattern. Our data suggest that smoking directly affects PRL levels by involving the hypothalamic mechanism that regulates PRL secretion. 相似文献
6.
Alberto Utrero-Rico Javier Ruiz-Hornillos Cecilia González-Cuadrado Claudia Geraldine Rita Berta Almoguera Pablo Minguez Antonio Herrero-González Mario Fernández-Ruiz Octavio Carretero Juan Carlos Taracido-Fernández Rosario López-Rodriguez Marta Corton José María Aguado Luisa María Villar Carmen Ayuso-García Estela Paz-Artal Rocio Laguna-Goya 《The Journal of allergy and clinical immunology》2021,147(5):1652-1661.e1
7.
8.
Campos B Díez O Odefrey F Domènech M Moncoutier V Martínez-Ferrandis JI Osorio A Balmaña J Barroso A Armengod ME Benítez J Alonso C Stoppa-Lyonnet D Goldgar D Baiget M 《Human mutation》2003,21(4):452-452
A frame-shift 9254del5 mutation was independently identified in 12 families, eleven of them with Spanish ancestors, in a BRCA2 screening performed in 841 breast and/or ovarian cancer families and in 339 women with breast cancer diagnosed before the age of 40 at different centers in France and Spain. We sought to analyze in detail the haplotype and founder effects of the 9254del5 and to estimate the time of origin of the mutation. Eight polymorphic microsatellite markers and two BRCA2 polymorphisms were used for the haplotype analyses. The markers were located flanking the BRCA2 gene spanning a region of 6.1 cM. Our results suggest that these families shared a common ancestry with BRCA2 9254del5, which is a founder mutation originating in the Northeast Spanish, with an estimated age of 92 (95% CI 56-141) generations. 相似文献
9.
Goldberg I Gilburd B Kravitz MS Kivity S Chaim BB Klein T Schiffenbauer Y Trubniykovr E Brenner S Shoenfeld Y 《Clinical & developmental immunology》2005,12(1):85-90
Background: There are several mechanisms to describe allergic drug
reactions yet the methods to diagnose them are limited.
Objective: To compare several conventional clinical and laboratory
methods to diagnose skin reactions to drugs
to a new method of diagnosing drug reactions by the CellScan system.
Methods: The study entailed 21 patients who were diagnosed as
suffering from drug eruptions, and 105 healthy controls with no history of drug
allergy. The drugs were classified into two groups according to suspicion of
causing drug allergy: high and low. Most of the patients were on more than
one drug, leading to 41 patient-drug interactions (assays). Histamine
releasing test (HRT), interferon (INF)-γ releasing test and CellScan
examination were performed on lymphocytes of the patients and controls.
Results: The HRT was interpreted as positive in 9 out of 18 (50%)
patients and in 13 out of 35 (37%) assays. Based on the INF-γ releasing test,
positive results were observed in 16 out of 21 (76%) patients and in 24 out of 41
(59%) assays. In the CellScan test (CST), positive results were observed in 17
out of 21 (81%) patients and in 29 out of 41 (71%) assays. The rate of identifying
the drug for eruption in the high suspicion level drugs was 9 out of 22 (41%)
assays in the HRT, 20 out of 24 (83%) assays in the INF-γ releasing test, and 21
out of 24 (87%) studies with the CellScan method. The rate of determining of
the drug that caused the eruption in the low suspicion level drugs was 4 out of
13 (31%) in the HRT, 4 out of 17 (24%) assays in the INF-γ releasing test, and 8
out of 17 (47%) analyses in the CST. When examined
in the CellScan, 99 out of 105 (94%) controls were interpreted as negative.
Conclusion: This preliminary study indicates that the CellScan seems to
be an easy and promising method for the detection of drugs responsible for
adverse skin reactions. In contrast to the HRT and to the Interferon-γ secretion
test, the CellScan method is characterized by its ability to track and monitor
the reaction of individual cells. By measuring the kinetic parameters of selected
cells before and after adding the suspected drug, we were able to identify
the culprit drug. The CellScan method had the highest sensitivity, and the
interferon-γ secretion test had the highest specificity for detection of the culprit
drug. In contrast, the analysis of 105
normal control sera disclosed a high specificity of 94% for the CellScan method. 相似文献
10.
Analysis of mouse serum hyaluronidase by polyacrylamide gel electrophoresis, with the substrate high-molecular-weight hyaluronan (hyaluronic acid) included in the gel performed in mice of two different strains, BALB/cBy and C57BL/6By, reveals a pattern of multiple enzyme forms specific for each genotype. In BALB/c serum, seven different forms are present, only one of which is found in C57BL/6 serum. Segregation analysis of the enzyme polymorphism in backcross progeny and in recombinant inbred and bilineal congenic lines shows that the difference is due to a single locus, which we have designated as Hyal-1. Hyal-1 is linked to the histocompatibility locus H-7, on chromosome 9. 相似文献