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A chromosomal breakage syndrome with profound immunodeficiency 总被引:5,自引:0,他引:5
The chromosomal breakage syndromes--ataxia-telangiectasia, Fanconi's anemia, and Bloom's syndrome--are associated with growth failure, neurologic abnormalities, immunodeficiency, and an increased incidence of malignancy. The relationship between these features is unknown. We recently evaluated a 21-year-old female with more severe chromosomal breakage, immunodeficiency, and growth failure than in any of the mentioned disorders. As of November 1985, the patient remains clinically free of malignancy. At age 18, the patient's weight was 22.6 kg (50th percentile for seven years), height was 129 cm (50th percentile for eight years), and head circumference was 42 cm (50th percentile for six months). Laboratory studies demonstrated a marked decrease in both B and T cell number and function. The peripheral blood contained 400 to 900 lymphocytes/microL with 32% T11 cells, 17% T4 cells, and 21% T8 cells. The proliferative responses to phytohemagglutinin (PHA), pokeweed mitogen, and concanavalin A were less than 10% of control. There were 1% surface IgM positive cells, and serum IgG was 185 mg/dL, IgM 7 mg/dL, IgA 5 mg/dL. In lymphocyte cultures stimulated with the T cell mitogens PHA, phorbol ester, and interleukin 2, 55% of the banded metaphases demonstrated breaks or rearrangements. The majority of the breaks involved four fragile sites on chromosomes 7 and 14, 7p13, 7q35, 14q11, and 14q32. These are the sites of the genes for the T cell-antigen receptor and the immunoglobulin heavy chain and are sites of gene rearrangement in lymphocyte differentiation. Epstein-Barr virus stimulated B cells and fibroblast cultures also demonstrated a high incidence of breaks, but the sites were less selective. These findings suggest that the sites of chromosomal fragility in the chromosomal breakage syndromes may be informative and that factors other than the severity of the immunodeficiency or the high incidence of chromosomal damage may contribute to the occurrence of malignancy in the chromosomal breakage syndromes. 相似文献
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Finnerup NB Sørensen L Biering-Sørensen F Johannesen IL Jensen TS 《Experimental neurology》2007,207(1):139-149
The mechanisms underlying central pain following spinal cord injury (SCI) are unsettled. The purpose of the present study was to examine differences in spinothalamic tract function below injury level and evoked pain in incomplete SCI patients with neuropathic pain below injury level (central pain) versus those without such pain. A clinical examination, quantitative sensory testing and magnetic resonance imaging (MRI) were performed in 10 SCI patients with below-level pain and in 11 SCI patients without neuropathic pain. Patients with and without pain had similar reductions of mechanical and thermal detection thresholds below injury level. SCI patients with central pain had sensory hypersensitivity in dermatomes corresponding to the lesion level more frequently than SCI patients without pain, but this may in part be explained by the exclusion of at-level spontaneous pain in the pain-free group. The rostral-caudal extent of the lesion measured by MRI did not differ between the two patient groups, and there were no statistically significant differences in any of the predefined areas of interest on the axial plane images. This study suggests that neuronal hyperexcitability plays a key role in central SCI pain and furthermore - in contrast to previous findings - that loss of spinothalamic functions does not appear to be a predictor for central neuropathic pain in spinal cord injury. 相似文献
56.
Children who present with unilateral or bilateral swelling of the legs are often suspected of having a deep venous thrombosis. The incidence of deep venous thrombosis in children is low and lymphoedema may be a more appropriate diagnosis. Lymphoedema can be primary or secondary. In childhood, primary lymphoedema is more common and may be seen associated with other congenital abnormalities, such as cardiac anomalies or gonadal dysgenesis. Primary hypoplastic lymphoedema is the most often encountered type. It is more common in girls, especially around puberty, and is typically painless. Atypical presentations produce diagnostic confusion and may require imaging to confirm the presence, extent, and precise anatomical nature of the lymphatic dysplasia. This article describes four patients presenting with limb pain and reviews the clinical features and imaging options in children with suspected lymphoedema. 相似文献
57.
In spinal cord injury (SCI), pain is a major cause of disability. A review of experimental and human studies, which provide insight into the mechanisms and treatment of SCI neuropathic pain are presented. Each of a series of pathophysiologic changes after SCI may be relevant for the development of SCI neuropathic pain. These changes are discussed in relation to neuropathic pain at and below the level of SCI. SCI neuropathic pain is difficult to treat. Experimental and human randomized, double-blind, placebo-controlled, clinical trials on pharmacologic treatment of SCI pain are summarized. 相似文献
58.
Algorithm for neuropathic pain treatment: an evidence based proposal 总被引:13,自引:0,他引:13
New studies of the treatment of neuropathic pain have increased the need for an updated review of randomized, double-blind, placebo-controlled trials to support an evidence based algorithm to treat neuropathic pain conditions. Available studies were identified using a MEDLINE and EMBASE search. One hundred and five studies were included. Numbers needed to treat (NNT) and numbers needed to harm (NNH) were used to compare efficacy and safety of the treatments in different neuropathic pain syndromes. The quality of each trial was assessed. Tricyclic antidepressants and the anticonvulsants gabapentin and pregabalin were the most frequently studied drug classes. In peripheral neuropathic pain, the lowest NNT was for tricyclic antidepressants, followed by opioids and the anticonvulsants gabapentin and pregabalin. For central neuropathic pain there is limited data. NNT and NNH are currently the best way to assess relative efficacy and safety, but the need for dichotomous data, which may have to be estimated retrospectively for old trials, and the methodological complexity of pooling data from small cross-over and large parallel group trials, remain as limitations. 相似文献
59.
STUDY DESIGN: A postal survey. OBJECTIVES: To assess the prevalence and characteristics of pain and dysesthesia in a community based sample of patients with spinal cord injury (SCI) with special focus on neuropathic pain. SETTING: Community. Western half of Denmark. METHODS: We mailed a questionnaire to all outpatients (n = 436) of the Viborg rehabilitation centre for spinal cord injury. The questionnaire contained questions regarding cause and level of spinal injury and amount of sensory and motor function below this level. The words pain and unpleasant sensations were used to describe pain (P) and dysesthesia (D) respectively. Questions included location and intensity of chronic pain or dysesthesia, degree of interference with daily activity and sleep, presence of paroxysms and evoked pain or dysesthesia, temporal aspects, alleviating and aggravating factors, McGill Pain Questionnaire (MPQ) and treatment. RESULTS: Seventy-six per cent of the patients returned the questionnaire, (230 males and 100 females). The ages ranged from 19 to 80 years (median 42.6 years) and time since spinal injury ranged from 0.5 to 39 years (median 9.3 years). The majority (> 75%) of patients had traumatic spinal cord injury. Of the respondents, 77% reported having pain or unpleasant sensations, and 67% had chronic pain or unpleasant sensations at or below lesion. Forty-eight per cent reported that P/D could be evoked by non-noxious stimulation of the skin indicating that allodynia is present in almost half of the patients. Forty-three per cent of respondents took analgesics, 7% received antidepressants or anticonvulsants. CONCLUSION: This survey suggests that pain and dysesthesia are common and serious complaints in SCI patients. Unexpectedly, only 7% of the patients were treated with drugs considered to be most effective in neuropathic pain. This emphasizes the need for a continued research and education on P/D in SCI. 相似文献
60.
NB Pitts KR Ekstrand The ICDAS Foundation 《Community dentistry and oral epidemiology》2013,41(1):e41-e52