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Aim
We aimed to identify early predictors of intractable epilepsy, intellectual disability (ID) and autism spectrum disorders (ASD) in the cohort of TSC patients initially diagnosed with cardiac rhabdomyomas (CR).Method
Over the period of twelve years we prospectively obtained clinical, neuropsychological, electrophysiological and neuroimaging data in a group of 22 TSC patients (9 females, 13 males) with the pre/perinatal diagnosis of CR, included to the study at the time of diagnosis. Afterwards, we statistically determined variables associated with ID, ASD and intractable epilepsy.Results
Development of ID was predicted by severe epilepsy (a higher number of anti-epileptic drugs used), a higher number of dysplastic lesions on MRI, and abnormal background activity on EEG (p < 0.05). Predictors of ASD included early developmental delay, abnormal background activity on EEG at the end of follow-up and a higher number of areas with dysplastic features on MRI (p < 0.05). Intractable epilepsy was associated with a higher number of areas with dysplastic features on MRI, ID and with TSC2 genotype.Conclusion
Adverse mental and clinical outcome was associated with intractable epilepsy and the severe anatomical brain involvement; therefore, our centre developed a tailored protocol for early identification of TSC patients at a higher risk of developing intractable epilepsy with its deleterious effect on cognitive outcome. 相似文献
Introduction
Autism Spectrum Disorder (ASD) is known to be associated with Cognitive impairment, especially executive dysfunction. Cognitive Remediation Therapy (CRT) is a rehabilitation method aiming to produce improvement in cognitive processes by teaching information processing strategies through guided mental exercises. CRT has been used in patients with schizophrenia. Taking into account the overlap between ASD and schizophrenia, we aimed in this study to examine the effectiveness of CRT for cognitive flexibility, inhibition and school results in children with ASD.Methods
Children meeting the Diagnostic and Statistical Manual for Mental Disorders (DSM-5) criteria for ASD were recruited from a clinical population at the Child and Adolescent Psychiatry Department in Razi University Hospital, Manouba, Tunisia. The CRT program was conducted at the rate of one session per week of 45 minutes each. The outcome measures were cognitive flexibility (by the mean of phonemic and semantic fluency), inhibition (using either Hayling Sentence Completion Task or Colors and Animals Attention Test [CAAT]), and school performance (assessed by school results). These outcomes were measured at baseline and one week after completion of the treatment.Results
Of the 25 patients included, 16 achieved assessments tests after CRT, thus constituting our final sample. Their average age was 10.87 years. The average number of the performed sessions was 22.38. For semantic fluency, the mean score in “animals” category was 13.94 before CRT and 17 after it (P = 0.045). Concerning the “clothes” category, the mean score increased from 10.47 to 12 after completion of the program. As for phonemic fluency scores, patients displayed significant improvement (P = 0.032). Patients committed more repetitive and intrusive errors, an increase significant only on the “clothes” category. After achievement of the CRT program, a significant improvement was also shown on school results (P = 0.001). Concerning inhibition tests, patients showed no significant improvement.Conclusion
The findings provide support for the effectiveness of CRT for enhancing executive functions in children and adolescents with ASD. Further studies are required to examine the durability of CRT effects in these children. 相似文献Objective: In this review study aimed at evaluating, with scientific and concrete proof, the current medical nutrition implementations on ASD, existing medical nutrition therapies have been addressed and their effects on ASD symptoms have been discussed in light of current research.
Methods: We reviewed articles regarding the medical nutritional therapy of autism on current nutritional approaches selected from PubMed, Science Direct, EBSCO, and databases about autism and nutrition.
Results: The research put forward that in individuals with ASD, while gluten-free/casein-free and ketogenic diets, camel milk, curcumin, probiotics, and fermentable foods can play a role in alleviating ASD symptoms, consumption of sugar, additives, pesticides, genetically modified organisms, inorganic processed foods, and hard-to-digest starches may aggravate symptoms.
Discussion: Further prospective controlled trials with large sample sizes are needed before recommendations can be made regarding the ideal ASD diet. This review emphasizes the value of identifying current nutritional approaches specific to individuals with ASD and integrating their effects on symptoms to the conversation and presents suggestions for future research designed to identify medical nutrition therapies targeting this population to better understand the link between ASD and nutrition. 相似文献