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排序方式: 共有128条查询结果,搜索用时 15 毫秒
1.
M. V. Hernández P. Peris N. Guañabens L. Alvarez A. Monegal F. Pons A. Ponce J. Muñoz-Gómez 《Calcified tissue international》1997,61(1):48-51
Moderate increases in ``classical' biochemical markers of bone turnover have been described only in some patients with Camurati–Engelmann
disease. However, the determination of the following ``new' markers has not been previously performed: serum osteocalcin
(BGP), bone alkaline phosphatase (BAP), carboxyterminal propeptide of type I procollagen (PICP), aminoterminal propeptide
of type I procollagen (PINP), tartrate-resistant acid phosphatase (TRAP), telopeptide carboxyterminal of type I collagen (ICTP),
urinary pyridinoline (PYR), crosslinked N-telopeptides of type I collagen (NTX), and Crosslaps (CL). Such a determination
may improve the evaluation of the disease activity. To evaluate the usefulness of biochemical markers of bone turnover reflecting
Camurati–Engelmann disease activity we measured the levels of all these markers in four affected patients. The results were
compared with bone scintigraphic indices of disease activity. Except for PICP and TRAP, bone formation and resorption markers
were abnormal in all patients and were related to bone scan indices of disease activity. Among the markers of bone formation
PINP, BAP, and BGP showed the highest values, whereas NTX and CL were the most sensitive markers of bone resorption. These
results suggest that the determination of NTX or CL, and PINP or either BAP and BGP, associated with bone scan evaluation,
provides the best assessment of Camurati–Engelmann disease activity.
Received: 14 June 1996 / Accepted: 31 December 1996 相似文献
2.
Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13 总被引:1,自引:0,他引:1
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Janssens K Gershoni-Baruch R Van Hul E Brik R Guañabens N Migone N Verbruggen LA Ralston SH Bonduelle M Van Maldergem L Vanhoenacker F Van Hul W 《Journal of medical genetics》2000,37(4):245-249
Camurati-Engelmann disease, progressive diaphyseal dysplasia, or diaphyseal dysplasia Camurati-Engelmann is a rare, autosomal dominantly inherited bone disease, characterised by progressive cortical expansion and sclerosis mainly affecting the diaphyses of the long bones associated with cranial hyperostosis. The main clinical features are severe pain in the legs, muscular weakness, and a waddling gait. The underlying cause of this condition remains unknown.In order to localise the disease causing gene, we performed a linkage study in a large Jewish-Iraqi family with 18 affected subjects in four generations. A genome wide search with highly polymorphic markers showed linkage with several markers at chromosome 19q13. A maximum lod score of 4.9 (theta=0) was obtained with markers D19S425 (58.7 cM, 19q13.1) and D19S900 (67.1 cM, 19q13. 2). The disease causing gene is located in a candidate region of approximately 32 cM, flanked by markers D19S868 (55.9 cM, 19q13.1) and D19S571 (87.7 cM, 19q13.4). 相似文献
3.
使用计算机辅助分子建模(CAMM)、分子力学和蒙特卡罗方法,模拟了5-氨基水杨酸(5-ASA,C7H7NO3,美沙拉灵(sp-57-6))与乙基纤维素(EC)的溶混性。模拟结果显示,在273K至316K的温度范围内,5-氨基水杨酸与乙基纤维素能以任何比例混溶。得出Emix(T)=A+BT+C/T模型,A=0.3694E+04,B=-0.2610E-02,andC=0.1818E+04,以及Emix(T)模型标准方差,S=0.2654E-03kcal/mol。对乙基纤维素及5-氨基水杨酸与乙基纤维素混溶过程的能量和构象分析表明,混溶过程中有乙基纤维素分子内和乙基纤维素与乙基纤维素分子间氢键形成。对两相混溶体系进行了热力学分析。 相似文献
4.
Alvarez L Peris P Bedini JL Parés A Monegal A Guañabens N Mas E Aibar C Ballesta AM 《Calcified tissue international》1999,64(4):301-303
Serum tartrate-resistant acid phosphatase (TRAcP) activity is considered to be a biochemical marker of bone resorption. Recently,
a lack of specificity of collagen-related markers for assessing bone turnover has been observed in patients with chronic liver
disease. Thus, it could be of great interest to determine serum TRAcP activity in such patients. However, nonspecificity of
the analytical reaction could occur when hemolyzed, lipemic, or icteric specimens are analyzed. Therefore, we have studied
the interference caused by bilirubin in the measurement of serum TRAcP activity using the Hillmann method. The interference
was assessed in two pools of serum containing different bilirubin concentrations but with similar total AcP levels. Mixing
proportional parts of the two pools, 10 samples were also obtained. Serum activities of total AcP and TRAcP, and the concentration
of bilirubin were measured in the 10 samples. Both the actual and the expected values obtained by theoretical calculations
were compared. Serum bilirubin values of 2.4 mg/dl showed a negative interference of 15% in the determination of serum TRAcP
activity, whereas values of bilirubin higher than 10 mg/dl interfered totally with the measurement of serum TRAcP. Bilirubin
did not interfere with the total AcP determination. This study clearly shows the interference of bilirubin in the determination
of serum TRAcP. This finding should be considered when bone metabolism disorders are evaluated in jaundiced patients.
Received: 6 April 1998 / Accepted: 1 October 1998 相似文献
5.
del Rio L Peris P Jover L Guañabens N Monegal A Di Gregorio S 《Clinical and experimental rheumatology》2008,26(2):283-287
OBJECTIVE: To evaluate the applicability of the WHO densitometric criteria for the diagnosis of spinal osteoporosis in men and to compare it with women with vertebral fractures, as well as to analyze the role of vertebral dimensions in the development of spinal fractures. METHODS: For these purposes we analyzed, using DXA, vertebral projected area and lumbar bone mineral density (BMD), as well as T and Z-scores in lumbar spine in a cohort of 66946 individuals; 2556 of these subjects had one or more atraumatic vertebral fracture (396 men and 2160 postmenopausal women). RESULTS: Men and women with fractures showed significantly lower mean BMD, T-score and Z-score values than individuals without fractures while vertebral dimensions were similar in both groups of patients. When comparing men and women with vertebral fractures, the former showed a significantly greater projected area (46.89+/-5.5 vs. 39.13+/-4.6 cm(2) p<0.001) and lumbar BMD (0.991+/- 0.21 vs. 0.938+/- t0.19 g/cm(2) p<0.001). However, the median lumbar T-score values were similar for both sexes (-2.3 in women vs. -2.2 in men; p: NS). In addition, a similar percentage of men and women with vertebral fractures showed T-score values <-2.5 in the lumbar spine (44% vs. 46%, p=NS). CONCLUSION: We conclude that although men with vertebral fractures have greater vertebral dimensions and BMD than women, the lumbar T-scores are similar. Therefore, it seems reasonable to adopt the same T-score values for the diagnosis of osteoporosis in men and women. 相似文献
6.
Angeles Martinez‐Ferrer Jordi Blasco Josep LI Carrasco Juan M Macho Luis San Román Antonio López Ana Monegal Nuria Guañabens Pilar Peris 《Journal of bone and mineral research》2013,28(8):1821-1829
We have recently observed an increased risk for vertebral fractures (VF) in a randomized controlled trial comparing the analgesic effect of vertebroplasty (VP) versus conservative treatment in symptomatic VF. The aim of the present study was to evaluate the risk factors related to the development of VF after VP in these patients. We evaluated risk factors including age, gender, bone mineral density, the number, type, and severity of vertebral deformities at baseline, the number of vertebral bodies treated, the presence and location of disk cement leakage, bone remodeling (determining bone turnover markers) and 25 hydroxyvitamin D [25(OH)D] levels at baseline in all patients. Twenty‐nine radiologically new VF were observed in 17 of 57 patients undergoing VP, 72% adjacent to the VP. Patients developing VF after VP showed an increased prevalence of 25(OH)D deficiency (<20 ng/mL) and higher P1NP values. The principal factor related to the development of VF after VP in multivariate analysis was 25(OH)D levels < 20 ng/mL (RR, 15.47; 95% CI, 2.99–79.86, p < 0.0001), whereas age >80 years (RR, 3.20; 95% CI, 1.70–6.03, p = 0.0007) and glucocorticoid therapy (RR, 3.64; 95% CI, 1.61–8.26, p = 0.0055) constituted the principal factors in the overall study population. Increased risk of VF after VP was also associated with cement leakage into the inferior disk (RR, 6.14; 95% CI, 1.65–22.78, p = 0.044) and more than one vertebral body treated during VP (RR, 4.19; 95% CI, 1.03–34.3, p = 0.044). In conclusion, nearly 30% of patients with osteoporotic VF treated with VP had a new VF after the procedure. Age, especially >80 years, the presence of inferior disk cement leakage after the procedure, the number of cemented vertebrae, and low 25(OH)D serum levels were related to the development of new VF in these patients, with the latter indicating the need to correct vitamin D deficiency prior to performing VP. 相似文献
7.
Sclerostin Expression in Bile Ducts of Patients With Chronic Cholestasis May Influence the Bone Disease in Primary Biliary Cirrhosis
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Núria Guañabens Silvia Ruiz‐Gaspà Laia Gifre Pilar Peris Ana Monegal Marta Dubrueil Ana Arias Albert Parés 《Journal of bone and mineral research》2016,31(9):1725-1733
Sclerostin is involved in the regulation of osteoblastogenesis and little is known about its role in the development of bone disease in primary biliary cirrhosis (PBC), characterized by low bone formation. Therefore, we have assessed the circulating levels and the liver expression of sclerostin in this cholestatic disease. Serum sclerostin levels were measured in 79 women with PBC (mean age 60.6 ± 1.2 years) and in 80 control women. Lumbar and femoral bone mineral density (BMD), as well as parameters of mineral metabolism and bone remodeling, were measured. Moreover, sclerostin gene (SOST) expression in the liver was assessed by real‐time PCR in samples of liver tissue taken by biopsy in 11 PBC patients and in 5 normal liver specimens. Presence and distribution of sclerostin was evaluated in liver slices from 11 patients by immunohistochemistry. The severity of histologic lesions was assessed semiquantitatively in the same liver samples. PBC patients had higher sclerostin levels than controls (75.6 ± 3.9 versus 31.7 ± 1.6 pmol/L, p < 0.001). Serum sclerostin correlated inversely with markers of bone formation and resorption. Sclerostin mRNA in the liver was overexpressed compared with control samples (2.7‐fold versus healthy liver). Sclerostin was detected by immunohistochemistry in 7 of the 11 liver samples, mainly located in the bile ducts. Liver sclerostin was associated with the severity of cholangitis (p = 0.02) and indirectly with the degree of lobular inflammation (p = 0.03). Sclerostin mRNA expression was higher in samples that tested positive by immunohistochemistry and particularly in those with lobular granuloma (p = 0.02). The increased expression of sclerostin in the liver and the association with histologic cholangitis may explain the high serum levels of this protein in patients with PBC, thus suggesting that sclerostin may influence the decreased bone formation in this cholestatic disease. © 2016 American Society for Bone and Mineral Research. 相似文献
8.
9.
Guañabens N Farrerons J Perez-Edo L Monegal A Renau A Carbonell J Roca M Torra M Pavesi M 《BONE》2000,27(1):123-128
To compare the effects of sodium fluoride and etidronate in severe postmenopausal osteoporosis, we conducted a 3 year, prospective, trial in 118 postmenopausal osteoporotic women with at least one vertebral fracture, who were randomly assigned to receive sodium fluoride (25 mg twice daily, as enteric-coated tablets) plus calcium (1000 mg/day) or intermittent etidronate (400 mg/day for 14 days) followed by calcium (1000 mg/day for 76 days). Lateral spine X-ray films and dual-energy X-ray absorptiometry (DXA) measurements of the lumbar spine and proximal femur were performed at enrollment and yearly. Nonvertebral fractures were recorded every 6 months. Thirty-one women in the fluoride group and 47 in the etidronate group completed the trial. At 36 months, the mean change from baseline of the lumbar bone density in the fluoride group was 8.5 +/- 2.04% (p = 0.001) and in the etidronate group was of 3.6 +/- 0. 84% (p < 0.001). The changes in the fluoride group were significantly higher than in the etidronate group (p = 0.01). Both groups showed nonsignificant changes in femoral neck bone density. There was no significant difference between groups in the cumulative proportion of women with new vertebral fractures, with an incidence in the fluoride group of 16% vs. 17% in the etidronate group. However, the number of new vertebral fractures was significantly lower in the fluoride group (6 fractures) than in the etidronate group (19 fractures) (p = 0.05). The number of patients with nonvertebral fractures was similar in both groups. A high incidence of side effects, mainly gastrointestinal symptoms and lower extremity pain syndrome, was observed in the fluoride group. Etidronate was well tolerated. We conclude that, in women with severe osteoporosis, although sodium fluoride is more favorable than cyclical etidronate for increasing lumbar bone mass, no differences were observed in the incidence of fractures. 相似文献
10.