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Muckle — Wells syndrome (MWS) is a rare autosomal dominant disease that belongs to a group of hereditary periodic fever syndromes. It is part of the wider spectrum of the cryopyrin-associated periodic syndrome (CAPS) which has only rarely been described in non-Caucasian individuals. It is characterized by recurrent self-limiting episodes of fever, urticaria, arthralgia, myalgia and conjunctivitis from childhood. Progressive sensorineural hearing loss and amyloidosis are two late complications. MWS is caused by gain of function mutations in the NLRP3 gene, which encodes cryopyrin, a protein involved in regulating the production of proinflammatory cytokines. We report two patients with MWS in an Indian family associated with the p.D303N mutation in the NLRP3 gene. These findings promote awareness of these hereditary periodic fever syndromes as a cause for recurrent fevers from childhood in the Indian population.KEY WORDS: Hereditary periodic fever, D303N mutation, Indian family, Muckle—Wells syndrome, p.D303N mutation 相似文献
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Karl Pillemer Emily K. Chen Catherine Riffin Holly Prigerson MC Reid Leslie Schultz 《American journal of public health》2015,105(11):2237-2244
We employed the research-to-practice consensus workshop (RTP; workshops held in
New York City and Tompkins County, New York, in 2013) model to merge researcher
and practitioner views of translational research priorities in palliative care.
In the RTP approach, a diverse group of frontline providers generates a research
agenda for palliative care in collaboration with researchers. We have presented
the major workshop recommendations and contrasted the practice-based research
priorities with those of previous consensus efforts. We uncovered notable
differences and found that the RTP model can produce unique insights into
research priorities. Integrating practitioner-identified needs into research
priorities for palliative care can contribute to addressing palliative care more
effectively as a public health issue.Over the past 2 decades, palliative care has become established as a promising approach
for addressing the needs of individuals with life-threatening illnesses from a holistic,
interdisciplinary perspective. For this project, we defined palliative care as an
approach that improves the quality of life of patients and families facing the problems
encountered in life-threatening illness by preventing and relieving suffering. Core
components of palliative care include providing relief from pain and other distressing
symptoms, affirming dying as a normal process, integrating psychological and spiritual
aspects of care, enhancing the quality of life of patients, and offering support systems
to patients and their families to help them live as fully as possible until death
occurs.Research suggests that palliative care results in positive patient outcomes, greater
patient and family satisfaction, and significant cost savings.1,2 The American Public Health Association, the
World Health Organization, and the Institute of Medicine3–6 have identified the
development of a robust palliative care delivery system as a key public health issue
because of the documented ability of palliative care to deliver effective and efficient
patient- and symptom-focused care to a growing population in need.In its 2013 report the American Public Health Association specifically detailed the
public health implications of palliative care, acknowledged the growing burden of
advanced chronic illness and disease in older adults, and recommended key steps to
address the problem. This policy statement called for federal, state, and local efforts
to promote effective symptom management in populations with serious illness or at the
end of life. Other recommended initiatives included the development of a palliative care
workforce, educational programs to improve uptake and use of palliative and hospice
care, and research funding to support the expansion of palliative care initiatives.
Achieving these goals will require moving beyond traditional medical practices to
include both policies and initiatives at the public health level.Despite the potential of palliative care to address the mental and physical health needs
of individuals with advanced illness, significant knowledge gaps impede its reach and
effectiveness. Reports from scientific bodies and consensus workshops have highlighted
weaknesses in the literature and called for more research on palliative care and
improved research methods.7–10 Thus, although both interest in and demand for
palliative care are increasing, reviews of the knowledge base continue to lament the
lack of research on many key issues.11,12Especially urgent is a research agenda that fits most closely with the needs of providers
who deliver palliative care. The systematic engagement of community practitioners in a
consensus process can lead to particularly useful and actionable recommendations for
research,13–15 which are greatly needed at this stage in the
development of the field. Therefore, to shed new light on research priorities in
palliative care, we used a structured, participatory method designed to solicit
practitioner input on research priorities: the research-to-practice consensus workshop
(RTP) model.16We employed the RTP approach to identify knowledge gaps and types of studies that should
be conducted to improve providers’ ability to deliver palliative care most
effectively. This model harnesses practice wisdom by engaging clinicians, agency staff,
and other practitioners with researchers in a process of articulating and refining
research questions and research priorities that honors scientific expertise and practice
wisdom. 相似文献
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Introduction
Critically ill patients with sepsis are prone to develop cardiac dysrhythmias, most commonly atrial fibrillation (AF). Systemic inflammation, circulating stress hormones, autonomic dysfunction, and volume shifts are all possible triggers for AF in this setting. We conducted a systematic review to describe the incidence, risk factors and outcomes of new-onset AF in patients with sepsis.Methods
MEDLINE, EMBASE and Web Of Science were searched for studies reporting the incidence of new-onset AF, atrial flutter or supraventricular tachycardia in patients with sepsis admitted to an intensive care unit, excluding studies that primarily focused on postcardiotomy patients. Studies were assessed for methodological quality using the GRADE system. Risk factors were considered to have a high level of evidence if they were reported in ≥2 studies using multivariable analyses at a P value <0.05. Subsequently, the strength of association was classified as strong, moderate or weak, based on the reported odds ratios.Results
Eleven studies were included. Overall quality was low to moderate. The weighted mean incidence of new-onset AF was 8% (range 0 to 14%), 10% (4 to 23%) and 23% (6 to 46%) in critically ill patients with sepsis, severe sepsis and septic shock, respectively. Independent risk factors with a high level of evidence included advanced age (weak strength of association), white race (moderate association), presence of a respiratory tract infection (weak association), organ failure (moderate association), and pulmonary artery catheter use (moderate association). Protective factors were a history of diabetes mellitus (weak association) and the presence of a urinary tract infection (weak association). New-onset AF was associated with increased short-term mortality in five studies (crude relative effect estimates ranging from 1.96 to 3.32; adjusted effects 1.07 to 3.28). Three studies reported a significantly increased length of stay in the ICU (weighted mean difference 9 days, range 5 to 13 days), whereas an increased risk of ischemic stroke was reported in the single study that looked at this outcome.Conclusions
New-onset AF is a common consequence of sepsis and is independently associated with poor outcome. Early risk stratification of patients may allow for pharmacological interventions to prevent this complication.Electronic supplementary material
The online version of this article (doi:10.1186/s13054-014-0688-5) contains supplementary material, which is available to authorized users. 相似文献9.
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Ankle sprains are amongst the most common injuries presenting to emergency departments in the UK. They are not one single entity but a heterogeneous group of injuries with a wide spectrum of severity. Most injuries will involve the lateral ankle ligament complex but it is important to ensure injuries to the syndesmotic ligaments or the deltoid ligaments are not missed. Missed injuries or poor management can cause disabling consequences and may occur in as many as 40% of inadequately treated patients. This article focuses on the basic anatomy and biomechanics of the ankle joint, common mechanisms of injury, appropriate diagnostic techniques and the indications for non-operative and operative management. 相似文献