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1.
S Popelka R Hromádka P Vav Ík V Barták S Popelka A Sosna 《BMC musculoskeletal disorders》2012,13(1):148
ABSTRACT: BACKGROUND: Foot deformities and related problems of the forefoot are very common in patients with rheumatoid arthritis. The laxity of the medial cuneometatarsal joint and its synovitis are important factors in the development of forefoot deformity. The impaired joint causes the first metatarsal bone to become unstable in the frontal and sagittal planes. In this retrospective study we evaluated data of patients with rheumatoid arthritis who underwent Lapidus procedure. We evaluated the role of the instability in a group of patients, focusing mainly on the clinical symptoms and X-ray signs of the instability. METHODS: The study group included 125 patients with rheumatoid arthritis. The indications of the Lapidus procedure were a hallux valgus deformity greater than 15 degrees and varus deformity of the first metatarsal bone with the intermetatarsal angle greater than 15 degrees on anterio-posterior weight-bearing X-ray. RESULTS: Data of 143 Lapidus procedures of 125 patients with rheumatoid arthritis, who underwent surgery between 2004 and 2010 was evaluated. Signs and symptoms of the first metatarsal bone instability was found in 92 feet (64.3 %) in our group. The AOFAS score was 48.6 before and 87.6 six months after the foot reconstruction. Nonunion of the medial cuneometatarsal joint arthrodesis on X-rays occurred in seven feet (4.9 %). CONCLUSION: The Lapidus procedure provides the possibility to correct the first metatarsal bone varus position and its instability, as well as providing the possibility to achieve a painless foot for walking. We recommend using the procedure as a preventive surgery in poorly symptomatic patients with rheumatoid arthritis in case of the first metatarsal bone hypermobility. 相似文献
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3.
Michal Demeter Martin Vorčák Rudolf Hyrdel Rastislav Kunda Peter Bánovčin 《Scandinavian journal of gastroenterology》2020,55(4):509-514
AbstractBackground: Standard treatment for esophageal epiphrenic diverticula associated with achalasia includes surgical diverticulectomy, myotomy and anterior fundoplication. However, several case reports published recently suggest that endoscopic approach using per oral endoscopic myotomy is a safe and effective alternative.Methods: This is a retrospective review of a single center case series of patients with achalasia and epiphrenic diverticula. During the treatment, the POEM guided on the opposite site of the diverticular neck without diverticulotomy was performed. Symptomatic outcome was evaluated 3 months after procedure and afterwards with the median follow-up time of 24 months. High resolution manometry was performed 3 months after the procedure.Results: Seven patients with esophageal epiphrenic diverticula were included. POEM was successfully performed in all patients, with no complications in the periprocedural period. We observed a significant reduction of Eckardt score and the relaxation pressure of the lower esophageal sphincter (31.8 vs. 8.8?mmHg, p < .0001).Conclusions: POEM is a promising approach in the management of achalasia and esophageal epiphrenic diverticula. We demonstrated its safety, efficiency and ability to provide symptom reduction and decrease of the LES relaxation pressure even without diverticulotomy. Multicentric studies on larger cohorts of patients and with longer follow-up time are required to confirm these results. 相似文献
4.
Laura Kropp Anish Baswanth Chakka Svetlana Yatsenko Eleonora Di Gregorio Daniela Lacerenza Giovanna Vaula Flavia Talarico Paola Mandich Camilo Toro Eleonore Eymard Pierre Pierre Labauge Sabina Capellari Pietro Cortelli Filippo Pinto Vairo Diego Miguel Danielle Stubbolo Lourenco Charles Marques William Gahl Odile Boespflug‐Tanguy Atle Melberg Sharon Hassin‐Baer Oren S. Cohen Rastislav Pjontek Armin Grau Thomas Klopstock Brent Fogel Inge Meijer Guy Rouleau Jean‐Pierre L. Bouchard Madhavi Ganapathiraju Adeline Vanderver Niklas Dahl Grace Hobson Alfredo Brusco Quasar Saleem Padiath 《Human mutation》2013,34(8):1160-1171
Autosomal dominant leukodystrophy (ADLD) is an adult onset demyelinating disorder that is caused by duplications of the lamin B1 (LMNB1) gene. However, as only a few cases have been analyzed in detail, the mechanisms underlying LMNB1 duplications are unclear. We report the detailed molecular analysis of the largest collection of ADLD families studied, to date. We have identified the minimal duplicated region necessary for the disease, defined all the duplication junctions at the nucleotide level and identified the first inverted LMNB1 duplication. We have demonstrated that the duplications are not recurrent; patients with identical duplications share the same haplotype, likely inherited from a common founder and that the duplications originated from intrachromosomal events. The duplication junction sequences indicated that nonhomologous end joining or replication‐based mechanisms such fork stalling and template switching or microhomology‐mediated break induced repair are likely to be involved. LMNB1 expression was increased in patients’ fibroblasts both at mRNA and protein levels and the three LMNB1 alleles in ADLD patients show equal expression, suggesting that regulatory regions are maintained within the rearranged segment. These results have allowed us to elucidate duplication mechanisms and provide insights into allele‐specific LMNB1 expression levels. 相似文献
5.
Rabie T Varga-Szabo D Bender M Pozgaj R Lanza F Saito T Watson SP Nieswandt B 《Blood》2007,110(2):529-535
Coronary artery thrombosis is often initiated by platelet activation on collagen-rich subendothelial layers in the disrupted atherosclerotic plaque. The activating platelet collagen receptor glycoprotein VI (GPVI) noncovalently associates with the Fc receptor gamma-chain (FcRgamma), which signals through its immunoreceptor-tyrosine-based activation motif (ITAM) via the adaptor LAT leading to the activation of phospholipase Cgamma2 (PLCgamma2). GPVI is a promising antithrombotic target as anti-GPVI antibodies induce the irreversible loss of the receptor from circulating platelets by yet undefined mechanisms in humans and mice and long-term antithrombotic protection in the latter. However, the treatment is associated with transient but severe thrombocytopenia and reduced platelet reactivity to thrombin questioning its clinical usefulness. Here we show that GPVI down-regulation occurs through 2 distinct pathways, namely ectodomain shedding or internalization/intracellular clearing, and that both processes are abrogated in mice carrying a point mutation in the FcRgamma-associated ITAM. In mice lacking LAT or PLCgamma2, GPVI shedding is abolished, but the receptor is irreversibly down-regulated through internalization/intracellular clearing. This route of GPVI loss is not associated with thrombocytopenia or altered thrombin responses. These results reveal the existence of 2 distinct signaling pathways downstream of the FcRgamma-ITAM and show that it is possible to uncouple GPVI down-regulation from undesired side effects with obvious therapeutic implications. 相似文献
6.
Gong P Levicky R 《Proceedings of the National Academy of Sciences of the United States of America》2008,105(14):5301-5306
Surface hybridization reactions, in which sequence-specific recognition occurs between immobilized and solution nucleic acids, are routinely carried out to quantify and interpret genomic information. Although hybridization is fairly well understood in bulk solution, the greater complexity of an interfacial environment presents new challenges to a fundamental understanding, and hence application, of these assays. At a surface, molecular interactions are amplified by the two-dimensional nature of the immobilized layer, which focuses the nucleic acid charge and concentration to levels not encountered in solution, and which impacts the hybridization behavior in unique ways. This study finds that, at low ionic strengths, an electrostatic balance between the concentration of immobilized oligonucleotide charge and solution ionic strength governs the onset of hybridization. As ionic strength increases, the importance of electrostatics diminishes and the hybridization behavior becomes more complex. Suppression of hybridization affinity constants relative to solution values, and their weakened dependence on the concentration of DNA counterions, indicate that the immobilized strands form complexes that compete with hybridization to analyte strands. Moreover, an unusual regime is observed in which the surface coverage of immobilized oligonucleotides does not significantly influence the hybridization behavior, despite physical closeness and hence compulsory interactions between sites. These results are interpreted and summarized in a diagram of hybridization regimes that maps specific behaviors to experimental ranges of ionic strength and probe coverage. 相似文献
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8.
Monalisa Hui Shantveer Uppin Rakhee Kumar Paruchuri Kunda Sandeep Reddy Ravinuthala Venkata Kumar 《Indian Journal of Thoracic and Cardiovascular Surgery》2016,32(1):41-44
Endobronchial metastasis from extrapulmonary malignant tumors is rare. The clinical and radiological features of endobronchial metastases and primary bronchogenic carcinoma are indistinguishable. Here, we report a case of isolated endobronchial metastasis of renal cell carcinoma almost a decade after initial presentation. The importance of histopathology and immunohistochemistry has been emphasized in this case. It is thereby worthwhile to consider endobronchial metastases as a differential diagnosis in patients with persistent pulmonary symptoms having a previous history of non-pulmonary malignancy. 相似文献
9.
SMI-32 antibody recognizes a non-phosphorylated epitope of neurofilament proteins, which are thought to be necessary for the
maintenance of large neurons with highly myelinated processes. We investigated the distribution and quantity of SMI-32-immunoreactive(-ir)
neurons in individual parts of the rat auditory system. SMI-32-ir neurons were present in all auditory structures; however,
in most regions they constituted only a minority of all neurons (10–30%). In the cochlear nuclei, a higher occurrence of SMI-32-ir
neurons was found in the ventral cochlear nucleus. Within the superior olivary complex, SMI-32-ir cells were particularly
abundant in the medial nucleus of the trapezoid body (MNTB), the only auditory region where SMI-32-ir neurons constituted
an absolute majority of all neurons. In the inferior colliculus, a region with the highest total number of neurons among the
rat auditory subcortical structures, the percentage of SMI-32-ir cells was, in contrast to the MNTB, very low. In the medial
geniculate body, SMI-32-ir neurons were prevalent in the ventral division. At the cortical level, SMI-32-ir neurons were found
mainly in layers III, V and VI. Within the auditory cortex, it was possible to distinguish the Te1, Te2 and Te3 areas on the
basis of the variable numerical density and volumes of SMI-32-ir neurons, especially when the pyramidal cells of layer V were
taken into account. SMI-32-ir neurons apparently form a representative subpopulation of neurons in all parts of the rat central
auditory system and may belong to both the inhibitory and excitatory systems, depending on the particular brain region. 相似文献
10.
Albert Válek Vra Spustová Frantiek Lopot Josef Erben Rastislav Dzúrik 《Artificial organs》1986,10(1):37-44
The aim of this study was to confirm or to reject whether plasma concentrations of individual fractions of middle molecular weight substances can become parameters for an adequate dialysis treatment and whether there exists a relation between that and some symptoms and signs in patients on regular dialysis. No changes in clinical condition, plasma concentration of middle molecules, or metabolic state after 5 years of short-time dialysis schedule were established. No difference was found in the plasma concentration of middle molecules after 6 months of continuous ambulatory peritoneal dialysis and in patients undergoing hemodialysis treatment. There was also no difference in glomerular filtration rate, blood urea concentration, dialysis index, and duration of regular dialysis treatment in patients with a middle molecular fraction 2 level lower and higher than 5.5 U/L. Elimination of fractions 2-4 and 6 by a 1-m2 Cuprophan coil dialyzer was similar to the elimination of creatinine. Only patients with acute respiratory infection had a fraction 2 higher than controls. Neither conventional parameters nor plasma concentrations of middle molecules can be indicators of an adequate dialysis. The well-being of patients and their metabolic state are the only criteria. 相似文献