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21.
Diggle CP Parry DA Logan CV Laissue P Rivera C Restrepo CM Fonseca DJ Morgan JE Allanore Y Fontenay M Wipff J Varret M Gibault L Dalantaeva N Korbonits M Zhou B Yuan G Harifi G Cefle K Palanduz S Akoglu H Zwijnenburg PJ Lichtenbelt KD Aubry-Rozier B Superti-Furga A Dallapiccola B Accadia M Brancati F Sheridan EG Taylor GR Carr IM Johnson CA Markham AF Bonthron DT 《Human mutation》2012,33(8):1175-1181
Pachydermoperiostosis, or primary hypertrophic osteoarthropathy (PHO), is an inherited multisystem disorder, whose features closely mimic the reactive osteoarthropathy that commonly accompanies neoplastic and inflammatory pathologies. We previously described deficiency of the prostaglandin-degrading enzyme 15-hydroxyprostaglandin dehydrogenase (HPGD) as a cause of this condition, implicating elevated circulating prostaglandin E(2) (PGE(2)) as causative of PHO, and perhaps also as the principal mediator of secondary HO. However, PHO is genetically heterogeneous. Here, we use whole-exome sequencing to identify recessive mutations of the prostaglandin transporter SLCO2A1, in individuals lacking HPGD mutations. We performed exome sequencing of four probands with severe PHO, followed by conventional mutation analysis of SLCO2A1 in nine others. Biallelic SLCO2A1 mutations were identified in 12 of the 13 families. Affected individuals had elevated urinary PGE(2), but unlike HPGD-deficient patients, also excreted considerable quantities of the PGE(2) metabolite, PGE-M. Clinical differences between the two groups were also identified, notably that SLCO2A1-deficient individuals have a high frequency of severe anemia due to myelofibrosis. These findings reinforce the key role of systemic or local prostaglandin excess as the stimulus to HO. They also suggest that the induction or maintenance of hematopoietic stem cells by prostaglandin may depend upon transporter activity. 相似文献
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夏科氏关节病是骨、关节和软组织的慢性进展性疾病,多由糖尿病周围神经病变所致,最常发生在足部及踝关节。由于关节稳定性下降,溃疡反复发作,该病是一种变形和破坏性过程。因此,早期诊断及鉴别CN和骨髓炎对指导治疗至关重要。通常在晚期伴发中足部溃疡情况下,易伴发骨髓炎。常规检查方法通常诊断不明确或存在误诊情况。多种MRI新技术,不但能做出较准确诊断及鉴别CN和骨髓炎,并能指导临床治疗及改善患者预后情况。作者就目前足部夏科氏关节病的影像学研究进展进行综述。 相似文献
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目的探讨关节镜治疗与注射玻璃酸钠保守治疗伴有半月板损伤早期骨关节炎的疗效。方法 2012年7月~2013年7月共收治85例膝关节退行性骨关节病患者,其中78膝符合选择标准,纳入研究。根据治疗方法不同分为两组,其中38例行关节镜手术(关节镜组),40例行玻璃酸钠注射治疗,作为对照组。两组患者均获随访,平均随访时间为12个月。结果末次随访时,Tegner评分玻璃酸钠注射组为(3.5±0.7),关节镜清理组为(5.1±1.4);Lysholm评分玻璃酸钠注射组为(48.3±16.5),关节镜清理组为(84.9±13.6),关节镜清理组与玻璃酸钠注射组经治疗后Tegner及Lysholm评分有统计学差异(0.05)。结论根据随访结果,关节镜治疗与注射玻璃酸钠保守治疗伴有半月板损伤早期骨关节炎均可获得疗效,关节镜组缓解程度较高。 相似文献
26.
A 52-year-old male patient presented to our hospital with a history of secondary hypertrophic osteoarthropathy (HOA) associated with an abdominal neoplasia and blepharoptosis. He had finger clubbing, hyperhidrosis, and hypertrichosis. He also had a recent history of extensive abdominal surgery with a pathology report of myelolipoma. Routine blood work was unremarkable. Upper eyelid reconstruction with blepharoplasty, upper eyelid wedge resection, and brow suspension was performed to address his eyelid concerns. By this case report, we would like to attract notice that the eyelid involvement may be a part of HOA and to emphasize the importance of systemic and pathologic evaluation in failed blepharoptosis surgery. 相似文献
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目的 :探讨 CT在骨骼肌肉系统疾病的应用价值。方法 :回顾性分析经病理证实或临床随访证实的 15 89例骨骼肌肉系统病变的 CT资料 ,并与临床进行对照。结果 :创伤性病变 15 6例 ,涉及颅面骨、脊柱、四肢、骨盆等部位 ,CT可显示复杂部位的细小骨折 ,以及邻近组织的伴随改变。骨关节病 13 79例 ,包括骨关节退行性变 ,无菌性坏死和骨纤维异常增殖症 ,CT可显示椎间盘病变的程度和部位 ,对无菌性坏死及骨纤维异常增殖症亦有独特的诊断价值。骨关节感染性病变 6例 ,肿瘤性病变 13例 ,软组织病变 3 5例 ,对上述 3类疾病 CT亦可提供明确的诊断信息。结论 :CT在骨关节系统具有十分明确的诊断价值 ,可发现常规 X线不能发现的早期表现和微小改变 ,有利于临床制订治疗方案 ,并可用于临床治疗的疗效观察 相似文献
28.
We report 3 patients with periosteal new bone formation consistent with hypertrophic osteoarthropathy (HOA), in the context of intestinal allograft rejection. Patient 1 developed thick periosteal new bone formation of the right arm during a prolonged episode of intestinal acute cellular rejection (ACR) 2 months posttransplant. Patient 2 developed ankle pain and swelling during an episode of severe ACR. Plain films showed periosteal new bone formation of the left ankle. In patient 3, the right wrist became swollen during an episode of moderate ACR, whereas plain films demonstrated mild periosteal reaction. Patients 2 and 3 had resolution of their symptoms once the ACR resolved with treatment. This is the first case series of HOA occurring in association with intestinal ACR. We speculate that an immune-mediated process is responsible for the bone disease. Further inquiry will help establish if HOA is related to transplant status, intestinal inflammation, or allograft rejection in general. 相似文献
29.
Utine EG Yalçin B Karnak I Kale G Yalçin E Doğru D Kiper N Akyüz C Büyükpamukçu M 《European journal of pediatrics》2008,167(4):419-423
Hypertrophic osteoarthropathy (HOA) is characterized by clubbing, periosteal new bone formation and polyarthritis. The pathogenesis
of clubbing involves an increased expression of platelet-derived growth factor (PDGF) and vascular endothelial growth factor
(VEGF) from the digitally lodged platelet clumps, which bypass the pulmonary capillary network as a result of various systemic
disorders. Intrathoracic neoplasms are rare causes of HOA in children. We report here a 14-year-old boy with digital clubbing,
who eventually received the diagnosis of intrathoracic Hodgkin lymphoma (HL) and HOA. Eight cases previously reported with
these two diagnoses are reviewed to emphasize the prognostic significance of HOA in childhood HL. Conclusion: Given the pathogenesis of clubbing and the prognostic significance of HOA, intrathoracic disease should be considered when
HOA is detected in a child with a known or suspected malignant disease, and the occurrence of HOA during follow-up should
alert the physicians for possible recurrence of the neoplastic disease or intrathoracic involvement.
There is no conflict of interest associated with this report nor any sponsors. 相似文献
30.
谭炎全 《中国康复理论与实践》2001,7(4):179-179,176
目的研究血清乳酸脱氢酶(LDH)活性在退行性骨关节病变中的变化.方法检测148例退行性骨关节病患者的LDH,并与138例正常人做对照.结果退行性骨关节病患者的LDH为199.28±91.64U,正常人为183.85±69.46U,两者之间无显著性差异(P>0.05).结论退行性骨关节病变并不一定引起LDH活性的改变. 相似文献