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101.
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Background: For advanced out‐of‐hospital airway management, skilled personnel and adequate equipment are key prerequisites. There are little data on the current availability of airway management equipment and standards of medical staff on Helicopter Emergency Medical System (HEMS) helicopters in central Europe. Methods: An internet search identified all HEMS helicopters in Austria, Switzerland and Luxembourg. We identified 15 HEMS helicopter bases in Switzerland, 28 in Austria and three in Luxembourg. A questionnaire was sent to all bases, asking both for the details of the clinical background and experience of participating staff, and details of airway management equipment carried routinely on board. Results: Replies were received from 14 helicopter bases in Switzerland (93%), 25 bases in Austria (89%) and all three bases in Luxembourg. Anaesthesiologists were by far the most frequent attending physicians (68–85%). All except one bases reported to have at least one alternative supraglottic airway device. All bases had capnometry and succinylcholine. All bases in the study except two in Austria had commercial pre‐packed sets for a surgical airway. All helicopters were equipped with automatic ventilators, although not all were suitable for non‐invasive ventilation (NIV; Switzerland: 43%, Austria: 12%, Luxembourg: 100%). Masks for NIV were rarely available in Switzerland (two bases; 14%) and in Austria (three bases; 12%), whereas all three bases in Luxembourg carried those masks. Conclusion: Most HEMS helicopters carry appropriate equipment to meet the demands of modern advanced airway management in the pre‐hospital setting. Further work is needed to ensure that appropriate airway equipment is carried on all HEMS helicopters.  相似文献   
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Background

Biotin-thiamine responsive basal ganglia disease (BTBGD) is an autosomal recessive disorder caused by mutations in the SLC19A3 gene and characterized by recurrent sub-acute episodes of encephalopathy that typically starts in early childhood. This study describes characteristic clinical and magnetic resonance imaging (MRI) findings of six cases of BTBGD diagnosed with newly identified mutations and genetically confirmed, with very early and different presentations compared to cases in the previous literature.

Methods

Six patients referred from different centers with similar clinical findings were diagnosed with BTBGD with newly identified mutations in the SLC19A3 gene. Two novel mutations in the SLC19A3 gene were identified in two patients at whole exome sequencing analysis. The clinical characteristics, responses to treatment, and electroencephalography (EEG) and MRI findings of these patients were examined. The other four patients presented with similar clinical and cranial MRI findings. These patients were therefore started on high-dose biotin and thiamine therapy, and mutation analysis concerning the SLC19A3 gene was performed. Responses to treatment, clinical courses, EEG findings and follow-up MRI were recorded for all these patients.

Results

Age at onset of symptoms ranged from 1 to 3 months. The first symptoms were generally persistent crying and restlessness. Seizures occurred in five of the six patients. Cranial magnetic resonance imaging revealed involvement in the basal ganglia, brain stem, and the parietal and frontal regions in general. The first two patients were siblings, and both exhibited a novel mutation of the SLC19A3 gene. The third and fourth patients were also siblings and also exhibited a similar novel mutation of the SLC19A3 gene. The fifth and sixth patients were not related, and a newly identified mutation was detected in both these subjects. Three novel mutations were thus detected in six patients.

Conclusion

BTBGD is a progressive disease that can lead to severe disability and death. Early diagnosis of treatable diseases such as BTBGD is important in order to prevent long-term complications and disability.  相似文献   
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BackgroundIn intensive care unit (ICU), although there is no standard protocol for maintenance of immunosuppressive (IS) treatments for the kidney transplant recipients (KTx), the dose and the number of IS drugs are decreased according to the center’s experience. The aim of this study is to evaluate the changes in IS treatment during stays in the ICU and to evaluate the safety and results of this modification on the IS treatment in the ICU arbitrarily.MethodWe evaluated retrospectively our kidney transplant recipients in ICU between 2012 and 2017. The immunosuppressive protocols and the results were taken from the ICU documents.ResultsA total of 31 (18 male, 13 female) patients were suitable for the analysis. They were all under the triple IS protocol including Tacrolimus (Tac) + Mycophenolate mofetil (MMF) + steroid before the admission. The reason for ICU admission were severe sepsis in all patients. In ICU, 16 patients (51.6%) died, and a total of 10 patients were lost with functional graft. Change in IS treatment is as follows: a total of the 23 patients (74.2%) were given only steroids, and 8 patients (25.8%) were changed from triple to 2 drugs. Acute kidney injury developed in 42% (13 patients) of the patients in ICU.ConclusionIn our study, we observed that life-threatening severe infections were the main cause of ICU admission in KTx. Reduction in IS treatments are common practice, and reduction to a single dose of steroid was the most frequently chosen IS treatment. Eighty percent of patients are discharged with reduction of steroid gradually. None of the patients developed acute rejection and permanent graft injury.  相似文献   
107.

Objective

The aim of this publication is to present long-term data on functional outcomes and tumor control in a cohort of 107 patients treated with stereotactic radiotherapy (RT) for vestibular schwannoma.

Patients and methods

Included were 107 patients with vestibular schwannoma (primary or recurrent following resection) treated with stereotactic RT (either fractioned or single-dose radiosurgery) between October 2002 and December 2013. Local control and functional outcomes were determined. Analysis of hearing preservation was limited to a subgroup of patients with complete audiometric data collected before treatment and during follow-up. Vestibular function test (FVT) results could be analyzed in a subset of patients and were compared to patient-reported dizziness.

Results

After a mean follow-up of 46.3 months, actuarial local control for the whole cohort was 100% after 2, 97.6% after 5, and 94.1% after 10 years. In patients with primary RT, serviceable hearing was preserved in 72%. Predictors for preservation of serviceable hearing in multivariate analysis were time of follow-up (odds ratio, OR = 0.93 per month; p = 0.021) and pre-RT tumor size (Koos stage I–IIa vs. IIb–IV; OR = 0.15; p = 0.031). Worsening of FVT results was recorded in 17.6% (N = 3). Profound discrepancy of patient-reported dizziness and FVT results was observed after RT. In patients with primary RT, worsening of facial nerve function occurred in 1.7% (N = 1).

Conclusion

Stereotactic RT of vestibular schwannoma provides good functional outcomes and high control rates. Dependence of hearing preservation on time of follow-up and initial tumor stage has to be considered.
  相似文献   
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The purpose of this study is to evaluate whether the presence of any stage retinopathy of prematurity (ROP) alters central retinal artery (CRA) and ophthalmic artery (OA) blood flow parameters in premature infants. The patients were divided into two groups according to the development of ROP; those who have ROP were defined as group I, those without ROP were defined as group II. Ninety eyes of 45 patients in group I and 40 eyes of 20 patients in group II were investigated. The blood flows in the CRA and OA were measured using ultrasound color doppler imaging (CDI) that allows to evaluate the peak systolic velocity (PSV), end diastolic velocity (EDV), and resistivity index (RI). The results were compared between two groups of subjects. There were no significant differences in the PSV, EDV, and RI of CRA between two groups (P = 0.09, P = 0.20 and P = 0.63, respectively). The mean PSV value of OA in group I was found to be significantly higher than the one in group II (P < 0.05), but there were no significant differences in the mean EDV and RI values of OA between two groups (P = 0.40, P = 0.17 respectively). The subgroup analysis revealed that the ocular blood dynamics were not found to be significant between eyes with stage I ROP and eyes with stage II ROP (P > 0.05), whereas the difference in the mean PSV values of OA were found to be significant among the eyes with stage 1 ROP, eyes with stage 2 ROP, and eyes without ROP (P = 0.03). This study demonstrated significant alterations in systolic flow velocities in the OA predicted by CDI in infants with ROP.  相似文献   
109.
Transient isolated lesions of the splenium with restricted diffusion are rare in the pediatric population. We report two such cases with influenza-associated encephalitis/encephalopathy (IAEE). These reversible isolated central splenial lesions are not specific for IAEE, but the notable feature associated with this specific presentation is a comparatively milder form of encephalitis that resolves clinically and radiologically within a short time.  相似文献   
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