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1.
Foetal anomalies of the digestive tract are numerous and dominated by malformations, the prognosis of which may be severe. Antenatal diagnosis of these anomalies allows a better management of neonates. It is known since about 20 years, a major development because of the progress realized in the field of foetal imaging. Ultrasonography, which is the best imaging modality, can be joined by MRI if necessary. The objective of this study is to evaluate the contribution of imaging in prenatal diagnosis of digestive anomalies, throughout a review of literature.  相似文献   
2.
Introduction . Percutaneous closure of congenital ventricular septal defects (VSDs) represents a promising alternative to surgery with lower rate of complications and shorter hospital stay. Its main limitation is the choice of the appropriate device for each type of defect. Aim. To report the experience of the service of cardiology (Sahloul hospital, Sousse, Tunisia) in percutaneous closure of congenital VSDs with Amplatzer Duct Occluder II (ADOII). Methods. This was a retrospective, monocentric study, conducted from January 2013 to December 2017. The study included patients treated by percutaneous closure of congenital VSDs with the ADOII device. Results. Twelve patients (6 boys; 6 girls) were included. The mean±SD of patients’ age and weight were 65±41 months and 23±10 kg, respectively. VSDs were peri-membranous (n=9) and muscular (n=3), and defects were restrictive (n=11) and non-restrictive (n=1). The mean (minimum-maximum) size of VSDs was 4.72 (3-6) mm. Eleven ADOII prostheses were successfully implanted. One failure procedure was noted with migration of the device into the pulmonary artery. A second child with perimembranous defect developed transient atrioventricular block. No deaths occurred. Conclusion. The present early experience shows that percutaneous closure with ADOII device of perimembranous and trabecular VSDs is safe and effective.  相似文献   
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This paper reports a case of testicular synovial sarcoma with molecular genetic analysis.A 24-year-old male presented with painless scrotal mass.Ultrasonography showed a heterogeneous mass of 66 mm×34 mm in size involving the inguinal region.Histological examination of a surgical biopsy showed a gradeⅢmonophasic growth pattern of spindle cell proliferation.Immunohistochemical analyses indicated positive staining for pancytokeratine and epithelial membrane antigen.Cytogenetic analysis showed the presence of CYT-SSX1 mutation,and CT scan showed non-specific pleural micro-nodules with a size of 7.5 mm.The patient had an extended left orchidectomy but was lost to follow-up for 1 year.A local recurrent scrotal mass of 32 mm×25 mm,multiple inguinal lymph nodes,and increased pleural nodules,which were confirmed by histological examination,were treated with three cycles of adriamycine and ifosfamide chemotherapy,surgical resection,and radiotherapy with complete response.After 3 months,the patient developed local recurrence and pulmonary metastases that did not respond to second-line chemotherapy based on gemcitabine and paclitaxel.The patient had dyspnea at the time of this writing and chest pain,and is under third-line chemotherapy based on Deticene after 30 months of following up.This patient died on November 16,2012 after a resperatory failure and malignant plural effusion. Synovial sarcoma should be considered in the differential diagnosis of soft tissue tumor and it should be aggressively treated to improve prognosis.Although our patient has shown numerous factors of bad prognosis,he has had a relatively long survival time.  相似文献   
5.
Allopurinol hypersensitivity syndrome (AHS) is a severe drug reaction. It is characterized by rash, fever, and internal organ involvement. It may present in different clinical forms. We present a case of acute generalized exanthematous pustulosis occurring as a manifestation of AHS.KEY WORDS: Allopurinol, hypersensitivity syndrome, pustulosis  相似文献   
6.
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease of motile cilia. Even though PCD is widely studied, North‐African patients have been rarely explored. In this study, we aim at confirming the clinical diagnosis and explore the genetic spectrum of PCD in a cohort of Tunisian patients. Forty clinically diagnosed patients with PCD belonging to 34 families were recruited from Tunisian pediatric departments. In each proband, targeted capture PCD panel sequencing of the 40 PCD genes was performed. PCD panel sequencing identified bi‐allelic mutations in 82% of the families in eight PCD genes. Remarkably, 23.5% of patients carried the same c.2190del CCDC39 mutation. Single nucleotide polymorphism profiling in six unrelated patients carrying this mutation has revealed a founder effect in North‐African patients. This mutation is estimated to date back at least 1,400–1,750 years ago. The identification of this major allele allowed us to suggest a cost‐effective genetic diagnostic strategy in North‐African patients with PCD.  相似文献   
7.
This prospective study aims to establish the association between markers of inflammation (CRP and fibrinogen) and the severity of coronary lesions in patients with acute coronary syndromes. For this purpose, Plasma CRP, fibrinogen and troponin I were measured upon admission in 143 consecutive patients presenting with an acute coronary syndrome who underwent subsequently coronarography . Mean age is 55.5+/-11.6 years. Sex Ratio is 3.61 in favour of men; 68% of our patients presented with acute myocardial infarction with ST segment elevation; 23% with an unstable angina and 9% with an acute myocardial infarction without ST segment elevation. 31 patients (24.4%) have not any significant coronary lesion. Mean CRP level in these patients is (6.82+/-8.2 mg/l) lower than that measured in patients with significant lesions (17.4+/-26.9 mg/l; p=0.02). In patients with pathologic coronarogram, we demonstrated that the mean CRP level is higher in patients heaving one or more lesion of at least 70% of diameter stenosis than that in patients with no significant lesions (21.28+/-30.45 mg/l vs 11+/-14.2 mg/l; p=0.05). The mean CRP level grows with the number of proximal and significant stenoses. (CRP level in patients with one significant stenosis: 11+/-14.2 mg/l vs 27.45+/-39.67 mg/l in patients heaving 3 lesions; p=0.02. CRP level in patients with one proximal lesion: 14.35+/-19.8 mg/l vs 50.33+/-65 mg/l in patients heaving 3 proximal lesions; p=0.007). Fibrinogen levels measured upon admission in patients having significant lesions are higher than those measured in patients with normal coronary arteries (4.7+/-1.81 mg/l vs 3.93+/-1.69 mg/l; p=0.02). Compared with that measured in patients having distal lesions, the fibrinogen level is higher in case of proximal and multiple coronary lesions. There is a significant gradual increase in fibrinogen levels with increasing of the number of proximal coronary lesions and the degree of diameter stenosis. Multivariate logistic regression analysis showed that a CRP level higher than 10 mg/l is an independent predictive factor of the presence of the presence of significant coronary lesions (p=0.006; OR = 8.62; CI=0.7 to 7.4). We conclude that high CRP and fibrinogen plasma levels are associated with extended, severe and proximal coronary lesions.  相似文献   
8.
A new actinomycete strain, designated US80 and producing antimicrobial activities against Gram-positive and Gram-negative bacteria and fungi, was isolated from Tunisian oasis soil. Cultural characteristic studies strongly suggested that this strain belongs to the genus Streptomyces. The nucleotide sequence of the 16S rRNA gene (1517 pb) of Streptomyces sp. strain US80 exhibited close similarity (97-98%) with other Streptomyces 16S rRNA genes. Similarity of 98% was obtained with the 16S rRNA gene of Streptomyces roseoflavus, which produces the aminoglycoside antibiotic flavomycin. Study of the influence of different nutritional compounds on production of bioactive molecules showed that the highest antimicrobial activities were obtained when glucose at 1% (w/v) was used as sole carbon source in the presence of magnesium. Extraction of fermentation broth of Streptomyces sp. strain US80 and various separation and purification steps led to isolation of three pure active molecules. The chemical structure of these three compounds, named irumamycin (1a), X-14952B (1b) and 17-hydroxy-venturicidin A (1c), was established on the basis on their IR, ESI-MS, 1H and 13C/APT NMR data and by comparison with reference data from the literature.  相似文献   
9.
Herpes simplex virus type 1 (HSV-1) is a ubiquitously occurring pathogen that infects humans early in childhood. The virus persists as a latent infection in dorsal root ganglia, especially of the trigeminal nerve, and frequently becomes reactivated in humans under conditions of stress. Monocytic cells constitute an important component of the innate and adaptive immune responses. We show here for the first time that HSV-1 stimulates human FasL promoter and induces de novo expression of FasL on the surface of human monocytic cells, including monocytes and macrophages. This virus-induced FasL expression causes death of monocytic cells growing in suspension, but not in monolayers (e.g., macrophages). The addition of a broad-spectrum caspase inhibitor, as well as anti-FasL antibodies, reduced cell death but increased viral replication in the virus-infected cell cultures. We also show here for the first time that the virus-induced de novo expression of FasL on the cell surface acts as an immune evasion mechanism by causing the death of interacting human CD4+ T cells, CD8+ T cells, and natural killer (NK) cells. Our study provides novel insights on FasL expression and cell death in HSV-infected human monocytic cells and their impact on interacting immune cells.  相似文献   
10.
Mediastinal mature teratomas are rare in children. Diagnosis is often made in the presence of a complication. We report a case of a mature mediastinal teratoma, complicated by its opening in the lung. The patient was a four-year-eight-month-old girl. She was admitted for fever, cough and dyspnea. The chest radiography showed a large mediastinal mass with calcifications. The CT scans and MRI aided in establishing the diagnosis. Biological tests (alpha-foetoproteins and beta-HCG) confirmed the benignity of the tumor. The child was operated on with full success.  相似文献   
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