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排序方式: 共有313条查询结果,搜索用时 15 毫秒
1.
2.
Photocarcinogenesis and inhibition of intercellular adhesion molecule 1 expression in cells of DNA-repair-defective individuals 下载免费PDF全文
3.
Solitary bronchioloalveolar carcinoma: CT criteria 总被引:14,自引:0,他引:14
Kuhlman JE; Fishman EK; Kuhajda FP; Meziane MM; Khouri NF; Zerhouni EA; Siegelman SS 《Radiology》1988,167(2):379-382
The computed tomographic (CT) scans of 30 patients with solitary bronchioloalveolar carcinoma were reviewed. Common features at CT included the peripheral or subpleural location of a pulmonary mass (25 cases), pseudocavitation (18 cases), heterogeneous attenuation (17 cases), irregular margins forming a star pattern (22 cases), and pleural tags (21 cases). Using these CT criteria, four independent observers attempted to identify cases of bronchioloalveolar carcinoma from a larger sample of lung cancers and benign lesions by categorizing a series of test cases into four probability categories. Although the bronchioloalveolar carcinomas were correctly ranked in the two highest probability categories 75% of the time (in 45 of 60 cases), there was considerable overlap with other lung lesions, particularly with adenocarcinoma and large cell undifferentiated carcinoma. However, even though the typical features of bronchioloalveolar carcinoma are not invariable or highly specific, they are characteristic enough to suggest the diagnosis. 相似文献
4.
Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP) 总被引:2,自引:2,他引:2
Roepman R; Bauer D; Rosenberg T; van Duijnhoven G; van de Vosse E; Platzer M; Rosenthal A; Ropers HH; Cremers FP; Berger W 《Human molecular genetics》1996,5(6):827-833
The gene for the most frequent from of X-linked retinitis pigmentosa
(XLRP), RP3, has been assigned by genetic and physical mapping to a segment
of less than 1000 kbp, which is flanked by the marker DXS1110 and the
ornithine transcarbamylase (OTC) gene. In search of microdeletions, we have
screened the DNA of 30 unrelated patients with XLRP by employing a
representative set of YAC-derived DNA fragments that were generated by
restriction enzyme digestion and PCR amplification. In one of these
patients, a 6.4 kbp microdeletion was detected which was not present in the
DNA of 444 male controls. A cosmid contig spanning the deletion was
constructed and used to isolate cDNAs from retina-specific libraries. Exons
corresponding to these expressed sequences as well as other putative exons
were identified by sequencing more than 30 kbp of the critical region. So
far, no point mutations in these putative exon sequences have been
identified.
相似文献
5.
Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1 总被引:6,自引:7,他引:6
Roepman R; van Duijnhoven G; Rosenberg T; Pinckers AJ; Bleeker-Wagemakers LM; Bergen AA; Post J; Beck A; Reinhardt R; Ropers HH; Cremers FP; Berger W 《Human molecular genetics》1996,5(7):1035-1041
The gene for retinitis pigmentosa 3 (RP3), the most frequent form of X-
linked RP (XLRP), has been mapped previously to a chromosome interval of
less than 1000 kbp between the DXS1110 marker and the OTC locus at
Xp21.1-p11.4. Employing a novel technique, YAC Representation Hybridization
(YRH)', we have recently identified a small XLRP associated microdeletion
in this interval, as well as several putative exons including the 3' end of
a gene that was truncated by the deletion. cDNA library screening and
sequencing of a cosmid centromeric to the deletion has now enabled us to
identify numerous additional exons and to detect several point mutations in
patients with XLRP. The predicted gene product shows homology to RCC1, the
guanine-nucleotide- exchange factor (GEF) of the Ras-like GTPase Ran. Our
findings suggest that we have cloned the long-sought RP3 gene, and that it
may encode the GEF of a retina-specific GTP-binding protein.
相似文献
6.
Comprehensive mutational scanning of the p53 coding region by two- dimensional gene scanning 总被引:2,自引:0,他引:2
A comprehensive mutational scanning test for the p53 coding region based on
multiplex PCR and two-dimensional DNA electrophoresis was designed and
evaluated. In a 2-step multiplex PCR, the p53 coding region (exons 2-11)
was amplified as a single 8646-bp fragment by long- distance PCR in step
one. This fragment served as a template for the subsequent co-amplification
of the individual exons in two multiplex groups in step two. The multiplex
products were then separated, first on the basis of size in non-denaturant
polyacrylamide gels and then on the basis of sequence by denaturing
gradient gel electrophoresis (DGGE). Primers for optimal PCR, melting
behavior and 2-D gel distribution were designed using a recently developed
computer program. The resulting two-dimensional gene scanning (TDGS) test
was evaluated by screening, in a blinded fashion, 29 coded DNA samples from
Li- Fraumeni syndrome patients with previously identified germline
mutations. All mutations were correctly detected. This assay provides an
accurate, cost-effective and non-radioactive method for simultaneous
mutational scanning of all p53 coding exons.
相似文献
7.
Associations between both genetic and environmental biomarkers and lung cancer: evidence of a greater risk of lung cancer in women smokers 总被引:3,自引:4,他引:3
Tang DL; Rundle A; Warburton D; Santella RM; Tsai WY; Chiamprasert S; Hsu YZ; Perera FP 《Carcinogenesis》1998,19(11):1949-1953
This molecular epidemiologic case-control study of lung cancer incorporated
three complementary biomarkers: the glutathione S- transferase M1 (GSTM1)
null genotype, a potential marker of susceptibility, and polycyclic
aromatic hydrocarbon-DNA adducts (PAH- DNA) and sister chromatid exchanges
(SCE), both indicators of environmentally induced genetic damage.
Associations between biomarkers and lung cancer were investigated, as were
possible gene-environment interactions between the GSTM1 null genotype and
tobacco smoke exposure. Subjects included 136 primary non-small cell lung
cancer surgical patients and 115 controls at the Columbia Presbyterian
Medical Center. Questionnaire and Tumor Registry data, pre-treatment blood
samples and biomarker measurements on blood were obtained. Overall, GSTM1
null genotype was significantly associated with lung cancer [odds ratio
(OR) = 2.04, 95% confidence interval (CI) = 1.13-3.68]. ORs for GSTM1 and
lung cancer were significant in females (2.50, 1.09-5.72) and smokers
(2.25, 1.11-4.54) and not significant in males (1.4, 0.58-3.38) and
non-smokers (0.88, 0.18-4.33). However, ORs for males versus females and
smokers versus non-smokers did not differ significantly. The OR for GSTM1
and lung cancer in female smokers was 3.03 (1.09- 8.40), compared with 1.42
(0.53-4.06) in male smokers. In contrast to PAH-DNA adducts in leukocytes,
SCE did not differ between cases and controls. Neither biomarker differed
significantly between the two GSTM1 genotypes. The combined effect of
elevated PAH-DNA adducts and GSTM1 genotype on case-control status (16.19,
1.2-115) appeared multiplicative. Results suggest that the effect of the
GSTM1 null genotype is greatest in female smokers, which is consistent with
other evidence that indicates that women are at higher risk of lung cancer
than males, given equal smoking. Persons with both the GSTM1 deletion and
elevated PAH-DNA adducts may represent a sensitive subpopulation with
respect to carcinogens in tobacco smoke and other environmental media.
相似文献
8.
Franqois P. Sarasin MD Jean-Marc Reymond MD John L Griffith PhD Joni R. Beshansky RN MPH Jurg A. Schifferli MD Pierre-Francois Unger MD Jean-Raoul Scherrer MD Dr. Harry P. Selker MD MSPH 《Journal of general internal medicine》1994,9(4):187-194
Objective: Emergency department (ED) triage for acute cardiac ischemia in the primary teaching hospital in Geneva, Switzerland, is very accurate, but at the cost of very long ED stays. Thus, the authors sought: 1) to determine the impact of the acute cardiac ischemia time-insensitive predictive instrument (ACI-TIPI), incorporated into a computerized electrocardiograph, on length of stay and speed of triage decision making for ED patients presenting with symptoms suggesting acute cardiac ischemia, and 2) to study the ACI-TIPI’s impact on physicians of different training levels. Design: A seven-month prospective clinical trial with alternating-month experimental and control periods. Setting: An urban major teaching hospital in Geneva, Switzerland. Participants: Patients over the age of 18 years presenting to the ED with chest pain or other symptoms suggesting acute cardiac ischemia (acute myocardial infarction or unstable angina pectoris). Emergency department physicians, classified as novice (those in their first ED rotations) and experienced (those in their second or later ED rotations). Patients staying overnight in the ED (n=111) were excluded from the analysis. Intervention: During the experimental months, the computerized electrocardiograph printed the ACI-TIPI probability of acute cardiac ischemia at the top of each subject’s electrocardiogram. During control months, the probability was not provided. Measurements and main results: Among the 418 study subjects, for patients with acute ischemia seen by novice clinicians, the use of the ACI-TIPI decreased ED time from presentation to triage decision and ED release by 0.7 hour (19%) (p=0.007). Subgroup analyses for patients with acute myocardial infarction, patients with unstable angina pectoris, and patients given thrombolytic therapy also showed analogous decreases in ED time consistent with this finding. Other key determinants of ED length of stay included: age, whether the coronary care unit was full, whether patients received thrombolytic therapy, and whether admission was during the night shift. The experimental and control groups did not differ in triage disposition appropriateness or mortality. Conclusions: For ED patients with acute cardiac ischemia evaluated by novice clinicians, the ACI-TIPI substantially speeded ED decision making and triage. The suggestion of an impact on different cardiac ischemia subgroups and mortality deserves further larger clinical trials. 相似文献
9.
FP Robertson D Tsironis BR Davidson 《Annals of the Royal College of Surgeons of England》2015,97(5):e77-e78
Diaphragmatic lesions are usually congenital bronchogenic cysts. A patient with a known diaphragmatic cyst presented with new onset right upper quadrant pain. Repeat imaging showed enlargement of the cyst, the CA19–9 cancer marker was raised at 312iu/ml (normal: <27iu/ml) and positron emission tomography combined with computed tomography showed focally increased uptake in the cystic wall. In view of symptoms and risk of neoplasia, the lesion was excised. Histology showed a benign epidermoid cyst. Features falsely suggesting neoplasia have been reported previously with benign splenic cysts but not with a benign diaphragmatic epidermoid cyst. 相似文献
10.
Wahl DG Bounameaux H de Moerloose P Sarasin FP 《Archives of internal medicine》2000,160(13):2042-2048
BACKGROUND: A high incidence of both arterial and venous thromboembolic events has been reported in patients with systemic lupus erythematosus (SLE), but the risks and benefits of primary prophylactic antithrombotic therapy have not been assessed. We measured the clinical benefit of 3 antithrombotic regimens in patients with SLE without antiphospholipid antibodies, with anticardiolipin antibodies, or with lupus anticoagulant. METHODS: A Markov decision analysis was used to evaluate prophylactic aspirin therapy, prophylactic oral anticoagulant therapy, and observation. Input data were obtained by literature review. Clinical practice was simulated in a hypothetical cohort of patients with SLE who had not experienced any previous episode of arterial or venous thromboembolic events. For each strategy, we measured numbers of thromboembolic events prevented and major bleeding episodes induced, and quality-adjusted survival years. RESULTS: Prophylactic aspirin therapy was the preferred strategy in all settings, the number of prevented thrombotic events exceeding that of induced bleeding episodes. In the baseline analysis (40-year-old patients with SLE), the gain in quality-adjusted survival years achieved by prophylactic aspirin compared with observation ranged from 3 months in patients without antiphospholipid antibodies to 11 months in patients with anticardiolipin antibodies or lupus anticoagulant. Prophylactic oral anticoagulant therapy provided better results than prophylactic aspirin only in patients with lupus anticoagulant and an estimated bleeding risk of 1% per year or less. CONCLUSIONS: Prophylactic aspirin should be given to all patients with SLE to prevent both arterial and venous thrombotic manifestations, especially in patients with antiphospholipid antibodies. In selected patients with lupus anticoagulant and a low bleeding risk, prophylactic oral anticoagulant therapy may provide a higher utility. 相似文献