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Niemann-Pick C (NPC) is a fatal progressive neurolipidosis. Miglustat, an inhibitor of glycosphingolipid synthesis, has been proposed to treat patients but questions remain regarding its efficacy. A major problem has been the lack of suitable objective efficacy endpoints. Three adults with NPC were treated with miglustat for 24 months. Efficacy of treatment was assessed clinically and using brain magnetic resonance spectroscopy. All patients reported mild clinical improvement or stabilization. Furthermore, a sustained decrease in the choline/creatine ratio was observed in all three patients over time. Although these preliminary results require confirmation on a larger cohort of patients, they suggest that miglustat has some beneficial effect on brain dysfunction in NPC and that MRS could be used routinely as a non invasive surrogate marker of treatment efficacy.  相似文献   
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Background and study aimsHuman leucocyte antigens (HLA) class II appear to play an important role in the individual’s immune response to viral infection. The aim of this study is to assess the relationship between HLA class II antigens with the clinical, laboratory and histopathological state of the liver in Egyptian children and adolescents with chronic hepatitis C virus (HCV) infection.Patients and methodsThe study included 46 chronically infected HCV children and adolescents without – hepatitis B virus (HBV) nor human immunodeficiency virus – (HIV). Their mean age was 10.4 ± 4.23 years (3–17). HLA-DRB typing was done by polymerase chain reaction (PCR) for the patients and 20 control subjects. Biochemical and haematological parameters were assessed as well as a liver biopsy was taken from the included patients.ResultsThe most frequent alleles demonstrated among patients were DRB1103, DRB1104 and DRB1113 (45.6%, 39.1% and 26.1%), respectively. Analysis of DRB1 frequencies between patients and control revealed that DRB1*15 is significantly reduced among patients when compared with the control group (p < 0.01). Patients possessing the allele DRB1*03 had significantly reduced platelet count (p = 0.03), and this allele was presented to a greater extent in patients with minimal grade of inflammation. Patients with DRB1*04 had significantly low serum albumin (p = 0.04) and patients with DRB1*13 had significantly high serum aspartate aminotransferase (AST) levels (p = 0.05).ConclusionIn Egyptian HCV-infected children, special HLA patterns were found; HLA DRB1*03 was present in nearly half of the patients, while the frequency of HLA DRB1*15 was significantly reduced among the cases in comparison to the control subjects.  相似文献   
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Endometrial sampling for histopathology examination is essential to diagnose endometrial cancer. There are many ways to obtain the specimen including endometrial biopsy or hysteroscopy. Hysteroscopy provides an accurate evaluation of the endometrial cavity and allows directed sampling of suspected lesion. However, there have been concerns that endometrial cells could be flushed into the fallopian tubes and the peritoneal cavity. We performed a literature search using the key words “endometrial cancer,” ”endometrial sampling,” “dilation and curettage” (D&C), “hysteroscopy,” and “cancer cells dissemination” and conducted the search in the Medline, EMBASE, and the Cochrane of Database of systematic reviews. Endometrial cell dissemination could occur after hysteroscopy as well as after endometrial biopsy and D&C. Hysteroscopic distension media and intrauterine pressure play a role in endometrial cell dissemination. Hysteroscopy is an additional tool in the diagnosis of endometrial cancer. However, its use in the initial workup is still controversial. In order to minimize the small risk of cancer dissemination, hysteroscopy should be performed with an intrauterine pressure of less than 80 mmHg, and the duration of the procedure should be as short as possible.  相似文献   
116.
BackgroundBreast cancer (BC) is a major worldwide health care problem that mostly afflicts the elderly population in the more developed countries. It is not known how common is breast cancer among elderly Egyptian patients and whether this differs from the disease in younger patients.AimsTo study the clinico-pathological features of BC in elderly Egyptian patients (?65 years of age) among the population of an Egyptian Governorate, Gharbiah, and to compare these features with those of younger patients (<65 years).MethodsThis is a cross sectional study that compares elderly BC (EBC) and the non-elderly BC (NEBC) using the information from the Gharbiah Population-based Cancer registry (GPCR) during the years 1999–2007.ResultsOut of 6078 BCs, 12% were EBCs and 88% were NEBCs. Between 1999 and 2007, the crude incidence rate (CIR, per 100,000 populations) of EBC increased from 47 to 71 and that of NEBC increased from 16 to 17. Compared to NEBC patients, EBC patients were more likely to have a positive family history and present with a distant disease and less likely to present with a localized disease. EBCs were more likely to have lung metastases and less likely to have liver metastases. Histology, grade, hormone and HER-2 receptor statuses were comparable in both groups. Apart from hormonal therapies, the elderly were less likely to receive surgery, radiotherapy or chemotherapy.ConclusionEBC patients in Egypt present with advanced disease and are less likely to receive surgery, radiotherapy or chemotherapy compared to NEBC patients.  相似文献   
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Flavonoids are non-nutritive dietary components that are widely distributed in plants. The present study was undertaken to examine the protective influence of rutin, a polyphenolic flavonoid, on oxidative stress during ammonium chloride (AC)-induced hyperammonemia by measuring the levels of oxidative damage as well as antioxidant status. The levels of tissue (liver, brain and kidney) lipid peroxides and the antioxidants (total thiols, catalase, reduced glutathione and glutathione peroxidase) were analyzed. Hyperammonemia was induced by daily intraperitoneal injections of AC at a dose of 100 mg/kg body weight for 8 weeks. Decreased levels of tissue lipid peroxidation accompanied with increased antioxidant levels in hyperammonemic rats were observed during oral administration of rutin (50 mg/kg body weight), which clearly shows the antioxidant property of rutin. The study of induction of the antioxidant status is considered to be a reliable marker for evaluating the antiperoxidative effect of the polyphenolic compound. Our present findings show the protective role of rutin against lipid peroxidation and suggest that rutin possesses antioxidant potential that may be used for therapeutic purposes.  相似文献   
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The objective of the current study was to investigate the effect of vanadium (V5+) on Cyp1 expression and activity in C57BL/6 mice liver and isolated hepatocytes. For this purpose, C57BL6 mice were injected intraperitoneally with V5+ (5 mg/kg) in the absence and presence of 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) (15 μg/kg) for 6 and 24 h. Furthermore, isolated hepatocytes from C57BL6 mice were treated with V5+ (5, 10, and 20 μM) in the absence and presence of TCDD (1 nM) for 3, 6, 12, and 24 h. In vivo, V5+ alone did not significantly alter Cyp1a1, Cyp1a2, or Cyp1b1 mRNA, protein, or catalytic activity levels. Upon co-exposure to V5+ and TCDD, V5+ significantly potentiated the TCDD-mediated induction of the Cyp1a1, Cyp1a2, and Cyp1b1 mRNA, protein, and catalytic activity levels at 24 h. In vitro, V5+ decreased the TCDD-mediated induction of Cyp1a1 mRNA, protein, and catalytic activity levels. Furthermore, V5+ significantly inhibited the TCDD-induced AhR-dependent luciferase activity. V5+ also increased serum hemoglobin (Hb) levels in animals treated for 24 h. Upon treatment of isolated hepatocytes with Hb alone or in the presence of TCDD, there was an increase in the AhR-dependent luciferase activity. When isolated hepatocytes were treated for 2 h with V5+ in the presence of TCDD, followed by replacement of the medium with new medium containing Hb, there was further potentiation to the TCDD-mediated effect. The present study demonstrates that there is a differential modulation of Cyp1a1 by V5+ in C57BL/6 mice livers and isolated hepatocytes and demonstrates Hb as an in vivo specific modulator.  相似文献   
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BackgroundBP control is suboptimal Worldwide. Little is known about attitudes of health professionals toward their BP status.AimTo estimate awareness, attitudes, and distribution of blood pressure among health professionals.Study designProspective cross-sectional survey.MethodsStudy was conducted among health professionals in two tertiary hospitals in Riyadh, KSA during December 2010. Socio-demographics, risk factors for high BP, awareness, and adherence to treatment were recorded.ResultsSix hundred and seventy-two subjects, 66.6% females, mean age 36.2 + 13.9 years. Prevalence of Hypertension (HTN) was 28%. 114 (60.6%) patients had self reported HTN in HTN group while 74 (11%) of total study population, were not aware that they have HTN which was detected on screening. Stress and lack of formal exercise were prevalent risk factors for HTN, present in 44.1% and 36.1%, of patients, respectively, while obesity was present in 19.4%. Many participants were not aware of recently recommended target value of blood pressure. 22.3% patients were irregular for their follow-up. 12.2% patients were not adherent to the treatment. Isolated systolic hypertension was more common in men. A point of serious concern was that relatively young health professionals, who were not known to be hypertensive did not monitor their BP, found to have HTN.ConclusionSuboptimal awareness and lack of adherence to the treatment for BP among health professionals is of serious concern, for increased chances of cardiovascular events. Physical exercise, correction of obesity and compliance with treatment may reduce the risk of HTN-related adverse outcome in this special subset of the population.  相似文献   
120.
Sensitivity of pancreatic islets to hypoxia is one of the most important of the obstacles responsible for their failure to survive within the recipients. The aim of this study was to compare the in vitro hypoxia tolerance of neonatal and adult rat islet cells and to study the glucose metabolism in these cells after exposure to hypoxia. Islet cells from both age categories were cultured in different hypoxic levels for 24 h and insulin secretion and some metabolites of glucose metabolism were analysed. Glucose‐stimulated insulin secretion decreased dramatically in both cell preparations in response to the decrease in oxygen level. The reduction of insulin secretion was more detectable in adult cells and started at 5% O2, while a significant reduction was obtained at 1% O2 in neonatal cells. Moreover, basal insulin release of neonatal cells showed an adaptation to hypoxia after a 4‐day culture in hypoxia. Intracellular pyruvate was higher in neonatal cells than in adult ones, while no difference in lactate level was observed between them. Similar results to that of pyruvate were observed for adenosine triphosphate (ATP) and the second messenger cyclic adenosine monophosphate (cAMP). The study reveals that neonatal rat islet cells are more hypoxia‐tolerant than the adult ones. The most obvious metabolic observation was that both pyruvate and lactate were actively produced in neonatal cells, while adult cells depended mainly on lactate production as an end‐product of glycolysis, indicating a more enhanced metabolic flexibility of neonatal cells to utilize the available oxygen and, at the same time, maintain metabolism anaerobically.  相似文献   
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