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31.
Camptomelic dysplasia is a disorder of the newborn characterized by congenital bowing and angulation of long bones together with other skeletal and extraskeletal defects. The affected newborn had dysmorphic features with bowing of the legs and bilateral talipes equinovarus. Radiology showed marked anterior bowing of both tibia with disproportionately short fibula, anterolateral bowing of the femurs and wide pelvic outlet with small iliac wings. She had sex reversal with normal female genitalia and 46, XY karyotype. Camptomelic dysplasia is generally considered to be a lethal skeletal dysplasia and most patients die in the neonatal period due to severe respiratory distress. Survivors may have learning difficulties, developmental delay, conductive hearing loss, myopia and recurrent chest infections. Because of its high associated mortality, prenatal diagnosis of camptomelic dysplasia is mandatory. The birth of a child with skeletal dysplasia is an emotionally difficult experience for parents.  相似文献   
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Role of protein kinase B in Alzheimer's neurofibrillary pathology   总被引:11,自引:0,他引:11  
Protein kinase B (PKB) is an important intermediate in the phosphatidylinositol-3 kinase signaling cascade that acts to phosphorylate glycogen synthase kinase-3 (GSK-3) at its serine 9 residue, thereby inactivating it. Activated GSK-3 has been previously shown to be preferentially associated with neurofibrillary tangles (NFTs) in Alzheimer's disease (AD) brain. In the present study, we performed immunohistochemistry with an antibody to the active form of PKB in brains with different stages of neurofibrillary degeneration. We found that the amount of activated PKB (p-Thr308) increased in correlation to the progressive sequence of AT8 immunoreactivity and neurofibrillary changes assessed according to Braak's criteria. By confocal microscopy, activated PKB (p-Thr308) was found to appear in particular in neurons that are known to later develop NFTs in AD. Western blotting showed that activated PKB was increased by more than 50% in the 16,000- g supernatants of AD brains as compared with normal aged and Huntington's disease controls. This increase in PKB levels corresponded with a several-fold increase in the levels of total tau and abnormally hyperphosphorylated tau at the Tau-1 site. These studies suggest the involvement of PKB/GSK-3 signaling in Alzheimer neurofibrillary degeneration.  相似文献   
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Alzheimer neurofibrillary degeneration   总被引:4,自引:0,他引:4  
Neurofibrillary degeneration has primary and pivotal involvement in the pathogenesis of Alzheimer disease (AD) and other tauopathies. The inhibition of this lesion offers a promising therapeutic approach. The microtubule- associated protein (MAP) tau is abnormally hyperphosphorylated in the brain of patients with AD, and in this form it is the major protein subunit of paired helical filaments/neurofibrillary tangles (PHF/NFT). The abnormal tau that is polymerized into PHF/NFT is apparently inert and has no effect on microtubule assembly in vitro. The cytosolic abnormally hyperphosphorylated tau from AD brain, the AD P-tau, does not promote in vitro microtubule assembly but, instead, sequesters normal tau, MAP1, and MAP2 and inhibits microtubule assembly. The AD P-tau readily self-assembles in vitro into tangles of PHF/straight filaments, and this self-assembly requires the abnormal hyperphosphorylation of this protein. Although, to date, an up-regulation of the activity of a tau kinase has not been established, the activity of phosphoseryl/ phosphothreonyl protein phosphatase (PP)-2A, which regulates the phosphorylation of tau, is compromised in AD brain. Thus, modulation of the activities of pp-2A and one or more tau kinases and inhibition of the sequestration of normal MAPs by AD P-tau offer promising therapeutic opportunities to inhibit neurofibrillary degeneration and the diseases characterized by this lesion. Development of high-throughput screening assays for potential drugs aimed at these therapeutic targets is currently under way.  相似文献   
34.
A cross-sectional study was conducted during May-December 2000 among pregnant women attending an urban maternal and childcare-delivery unit in Dhaka, Bangladesh, to assess the prevalence of bacterial vaginosis, Trichomonas vaginalis, and syphilis. All pregnant women at 16-24 weeks gestation attending the clinic for antenatal check-up irrespective of symptoms were enrolled. Sociodemographic information and obstetric history were obtained from each enrolled subject. High vaginal swabs and serum samples were tested for bacterial vaginosis, and T. vaginalis and syphilis respectively. In total, 284 pregnant women were enrolled. Of them, 17.7% had bacterial vaginosis, 1.4% had Trichomonas infection, and 3% had syphilis. The prevalence of bacterial vaginosis was higher in women with low socioeconomic status.  相似文献   
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Background  

This study investigates the effects of rosiglitazone (a peroxisome proliferator-activated receptor-gamma) on the histological parameters of the dorsal root ganglion (DRG) and the recovery potential of the injured sciatic nerve in rats using stereological methods.  相似文献   
37.
The present study was carried out with the objectives to thrash immunotoxic effects of moldy feed in commercial White Leghorn layers and to know either addition of distillery yeast sludge (DYS) in moldy feed ameliorates the immunotoxic effects or not. For this purpose, moldy feed was prepared containing OTA and AFB1 56 and 136?μg/kg, respectively. For this purpose, 100, 40-week-old White Leghorn hens were procured and kept under standard management conditions. Birds were divided into five equal groups. Birds were kept on moldy feed (ochratoxin A: 56?μg/kg and aflatoxin B1: 136?μg/kg) mixed with 0%, 0.5%, 1% and 2% DYS/kg moldy feed. Group A served as control. Blood was collected without anticoagulant to separate serum. Serum ALT, creatinine and blood urea levels significantly increased in moldy-fed group as compared to control group, while nonsignificantly different readings of serum ALT, creatinine and blood urea were recorded in moldy feed?+?2% DYS and control group. Immune parameters, that is, lymphoproliferative response to PHA-P, phagocytic potential and total protein and IgG titers against sheep RBCs were significantly decreased in birds receiving moldy feed as compared to control group. Almost all parameters studied were normal compared to control group with the addition of 2% DYS in moldy feed, while 1% DYS partially ameliorated the immunotoxic effects of mycotoxins.  相似文献   
38.
ObjectiveTo determine the prevalence of bacterial vaginosis (BV) in patients with vaginal discharge and evaluate the efficacy of OSOM BV blue test in diagnosis.MethodsOSOM BV blue test, a rapid diagnostic test based on the principle of detection of bacterial sialidase activity in vaginal fluid specimens was conducted. A total of 405 patients in the reproductive age group (15–45 years) having vaginal discharge were included in the study along with 10 healthy age-matched controls. Two high vaginal swabs were collected aseptically from each patient. One swab was used to make smear for gram staining, and the other was for OSOM BV blue test. Amine test and vaginal pH test were taken as well.ResultsThe prevalence of bacterial vaginosis was 60.7%. OSOM BV blue test showed good efficacy, as compared with gram staining in diagnosing BV. The sensitivity and specificity of OSOM BV blue test were 97.6% and 97.5% respectively. Amsel's criteria diagnosed 180 (44.4%) cases of BV and had sensitivity and specificity of 67.1% and 90.6% respectively. Thus the performance of OSOM BV blue was better than the methods based on Amsel's criteria.ConclusionsOSOM BV blue test is an efficacious bed side test, helpful in rapidly making an accurate diagnosis of BV in setups lacking laboratory facilities or expert microbiologists.  相似文献   
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