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71.
Children burned 40% total body surface area suffer acute bone loss. The reason(s) for this is uncertain. In order to determine whether high endogenous glucocorticoid production can contribute to the bone loss, we sequentially studied a total of 14 pediatric burn patients for bone histomorphometry; 7 of these patients and 4 controls were studied for characteristics of corticosteroid-induced bone loss, including decreased osteoblasts and down-regulation of the glucocorticoid receptor in bone. We then studied 4 of the burn patients and three controls for a decrease in markers of osteoblast differentiation, another feature of glucocorticoid toxicity. Bone biopsies were taken from each of the 14 burn patients a mean of 3 weeks post-burn. Histomorphometry was performed on one specimen (n=7) and either glucocorticoid and mineralocorticoid receptor, collagen and alkaline phosphatase expression by RT-PCR (n=7) or marrow stromal cell culture (n=4) on the other. Patients were permitted a maximum of two biopsies for study. One biopsy was obtained intra-operatively from normal subjects during elective iliac crest alveolar bone grafting and compared with burn specimens for glucocorticoid receptors and marrow stromal cell culture. A 24-h urine specimen was obtained for free cortisol (n=7). Histomorphometry revealed low osteoblast and osteoid surfaces and few detectable osteoblasts. Resorptive surfaces were also reduced. Glucocorticoid receptor mRNA (GR) was not decreased; however, there was a trend toward inverse relationships between urine free cortisol and GR and type-1 collagen mRNA, r=–0.61 and –0.64, respectively, and a significantly lower mRNA for type-1 collagen in bone in burn vs control patients by the median test, 2=7.6 (p<0.01). Markers of osteoblast differentiation, core-binding factor (cbf)a1, bone morphogenetic protein (BMP)-2, type-I collagen, and alkaline phosphatase were reduced in burn cell cultures compared with controls (p<0.05). The eightfold elevation of urinary free cortisol excretion, low osteoblast number, decreased resorptive surface, and reduced markers of osteoblast differentiation are all consistent with an acute glucocorticoid effect on bone.  相似文献   
72.
Lilium fargesii Franchet is an endangered species endemic to China. In this study, the complete chloroplast genome has been generated from the Next Generation Sequencing. The whole genome is 153,235 bp in length, and includes one large single copy region of 82,217 bp, one small single copy region of 17,038 bp and a pair of inverted repeat region of 26,990 bp. It contains 132 genes, comprising 86 protein-coding genes (78 PCG species), 38 transfer RNA (30 tRNA species) and eight ribosomal RNA genes (four rRNA species). In the maximum likelihood tree, all species of Lilium were clustered into two monophyletic groups with 100 % bootstrap value.  相似文献   
73.
SOD1, ANG, TARDBP and FUS mutations have been associated with amyotrophic lateral sclerosis (ALS). Our goal was to extend molecular genetic analysis to newly identified ALS genetic loci and to determine the frequency of mutations, distribution of disease genes, and variant spectrum of these genes in a large United States ALS-phenotype cohort. We screened 1220 probands with an ALS phenotype, referred originally for SOD1 molecular genetic analysis. 1128 SOD1-negative probands were screened for ANG, and 277 and 223 SOD1- and ANG-negative samples were screened for TARDBP and FUS, respectively. One hundred additional probands were specifically screened only for FUS exon 15. We identified a total of 36 different SOD1 mutations, including three novel mutations, in 92 probands. ANG screening identified three mutations, including two novel mutations, and TARDBP screening identified two previously reported TARDBP mutations. We also identified four mutations in FUS, including the reported FUS in-frame deletion, c.430_447del, p.Gly144_Tyr149del, in a patient with inclusion body myositis, and two known FUS missense mutations. From this study, we estimate frequencies for SOD1, ANG, TARDBP and FUS mutations, in this United States cohort, to be 7.5%, 0.71%, 0.72% and 1.9%, respectively. In conclusion, we identify novel variants in SOD1, ANG, TARDBP and FUS, and expand the FUS-associated clinicopathologic phenotype.  相似文献   
74.

Background

Studies that have investigated the association between vitamin D receptor (VDR) gene polymorphisms and intervertebral disc degeneration (IDD) have yielded inconsistent results.

Methods

To investigate the association between VDR gene polymorphisms and IDD, a systematic literature search for relevant published studies was performed on PubMed, Embase, Web of Science, Cochrane library, Wan-Fang, and CNKI databases. A random effects model was used for heterogeneous data; while a fixed effect model was used for homogenous data. Odds ratios (OR) and 95% confidence intervals (CI) were calculated to evaluate the strength of the association.

Results

We observed no association between VDR FokI, TaqI-ApaI polymorphisms and IDD. However, on subgroup analysis by ethnicity, VDR FokI mutation was associated with a significantly lower risk for IDD [dominant model: OR = 0.78, 95% CI = 0.65–0.93; heterozygote model: OR = 0.76, 95% CI = 0.63–0.92; allele model: OR = 0.86, 95% CI = 0.75–0.98] among Caucasians.

Conclusion

These results suggest that the VDR FokI polymorphism may be associated with IDD among Caucasians. However, the association between VDR TaqI-ApaI polymorphisms and IDD in Asians is still not clear. Further well-designed studies are needed to arrive at a definitive conclusion.  相似文献   
75.
Osteogenesis imperfecta (OI), also known as brittle bone disease, displays a spectrum of clinical severity from mild (OI type I) to severe early lethality (OI type II), with clinical features including low bone mass, fractures, and deformities. Mutations in the FK506 Binding Protein 10 (FKBP10), gene encoding the 65‐kDa protein FKBP65, cause a recessive form of OI and Bruck syndrome, the latter being characterized by joint contractures in addition to low bone mass. We previously showed that Fkbp10 expression is limited to bone, tendon, and ligaments in postnatal tissues. Furthermore, in both patients and Fkbp10 knockout mice, collagen telopeptide hydroxylysine crosslinking is dramatically reduced. To further characterize the bone specific contributions of Fkbp10, we conditionally ablated FKBP65 in Fkbp10fl/fl mice (Mus musculus; C57BL/6) using the osteoblast‐specific Col1a1 2.3‐kb Cre recombinase. Using μCT, histomorphometry and quantitative backscattered electron imaging, we found minimal alterations in the quantity of bone and no differences in the degree of bone matrix mineralization in this model. However, mass spectroscopy (MS) of bone collagen demonstrated a decrease in mature, hydroxylysine‐aldehyde crosslinking. Furthermore, bone of mutant mice exhibits a reduction in mineral‐to‐matrix ratio and in crystal size as shown by Raman spectroscopy and small‐angle X‐ray scattering, respectively. Importantly, abnormalities in bone quality were associated with impaired bone biomechanical strength in mutant femurs compared with those of wild‐type littermates. Taken together, these data suggest that the altered collagen crosslinking through Fkbp10 ablation in osteoblasts primarily leads to a qualitative defect in the skeleton. © 2017 American Society for Bone and Mineral Research.  相似文献   
76.
我国护士多点执业试点工作正在进行,这项政策是否顺利落实取决于各利益相关集团。通过探讨现阶段我国实施护士多点执业卫生服务需求者、卫生服务提供者、卫生服务监管者各方面的利益与相互作用,分析患者、护士、各级医院、政府的利益、资源、能力、立场。提出开放护士多点执业要在承认护士多点执业合法性的基础上,保证护士、医院的利益,规避医疗风险,健全管理监督机制,以保证护士多点执业有序进行。  相似文献   
77.
A 52-year-old man presented with painful swelling of his left ankle after a fall from a ladder. The radiograph revealed fractures of the medial and lateral malleoli and a pilon fracture. The lateral portion of the plafond was broken, and the fractured bone fragment was impacted into the metaphysis. The fractured bone fragment was gently tapped through a metaphyseal window to be reduced into the anatomical position, and the joint surface was restored. The channel through which the impactor was introduced was grafted with an autogenous iliac bone graft. The fractured medial and lateral malleoli were stabilized with tension band wiring and plating. The unstable syndesmosis of the ankle mortise was fixed with a transfixation screw. At 6 months after surgery, the motion arc of the ankle ranged from dorsiflexion 20 to plantar flexion 30, and there were minimal difficulties in the activities of daily living. This paper reports a technique for treating a pilon fracture involving the lateral side of the plafond with intact anterior and posterior cortices by a closed reduction through the metaphyseal window. The precarious soft tissue around the ankle joint after a pilon fracture could be spared from additional surgical injury, and the saved soft tissue envelope around the injury could facilitate fracture healing.  相似文献   
78.
目的 :比较极外侧入路腰椎椎间融合术(extreme lateral interbody fusion,XLIF)与传统后路手术治疗高位腰椎间盘突出症的临床疗效。方法:收集2010年6月至2014年12月高位腰椎间盘突出症60例患者的临床资料,其中极外侧入路椎间植骨椎体钉固定组(XLIF组)30例,其中T_(12)L_12例、L_(1,2)6例、L_(2,3)10例、L_(3,4)12例;后入路椎间植骨椎弓根钉固定组(传统后路组)30例,其中T_(12)L_11例、L_(1,2)6例、L_(2,3)8例、L_(3,4)15例。记录手术切口长度、手术时间、术中出血量、术后引流液量、住院时间,比较手术前后腰痛视觉模拟评分(visual analogue score,VAS)和腰椎日本骨科协会(Japanese Orthopedic Association,JOA)评分(29分法),并根据影像资料,观察椎间融合器有无移位,分析椎间融合率情况。结果:所有患者获得随访,时间12~48个月,平均29个月。XLIF组术后股神经损伤2例,术后3个月内恢复;传统后路组切口浅表感染1例,予抗感染治疗后治愈。术中、术后均未出现脑脊液漏、马尾损伤以及下肢神经根功能恶化现象。XLIF组手术时间(65.6±20.5)min,术中出血量(48.8±15.3)ml,术后引流量0 ml;传统后路组手术时间(135.2±33.9)min,术中出血量(260.3±125.7)ml,术后引流量(207.1±50.2)ml;XLIF手术时间短于传统后路组,术中出血量、术后引流量也较传统后路组少(P0.05)。两组随访时的JOA、VAS评分均较术前明显改善(P0.05),但术后1、6、24个月VAS、JOA评分两组对比差异无统计学意义(P0.05)。两组术后6、12个月随访的融合率比较差异无统计学意义(P0.05)。结论 :应用XLIF治疗高位腰椎间盘突出症具有微创、手术时间短、并发症少、术后融合率高的优点,具有更好的临床疗效。  相似文献   
79.
目的探讨IDEAL技术在腰椎间盘突出症中显示腰骶神经受压的临床应用价值。方法将明显腰腿痛并腰椎间盘突出的患者40例作为观察组,正常志愿者10例作为对照组,行腰骶神经根IDEAL序列冠状位薄层扫描和常规扫描,所有图像均经最大信号强度投影(MIP)和曲面重建(CPR)后处理,观察腰骶神经根的受压特点及其与突出椎间盘与邻近组织的关系。结果观察组40例中有92组腰椎间盘不同程度的疝出,而由此引起的神经根受压共81组,其中神经根侧隐窝段受压的概率显著大于椎管内段,但是任何部位的神经根受压好发生于同侧还是双侧受压并没有统计学意义(P=0.338)。另有4组神经根受压由增厚的黄韧带或骨质增生引起;有6组由神经根鞘囊肿引起。受压神经根的影像学表现为:(1)神经根局部缺损样压迹;(2)走行的改变;(3)形态的改变,包括局部肿胀,甚至截断样改变;(4)与邻近组织局部粘连,边界不清,边缘模糊;(5)局部脑脊髓间隙变窄或消失。结论 IDEAL序列能直观显示腰骶神经根与邻近结构的关系及受压特点,能够对神经根受压作出准确的定位和受压程度评估,对判断腰骶神经受压、损伤等具有一定的临床诊断价值,也能为临床早期选择正确的治疗方案及疗效观察提供可靠的参考依据。  相似文献   
80.
柚子提取物对小鼠肝微粒体代谢活性的影响   总被引:1,自引:0,他引:1  
目的探讨几种柚子提取物对肝微粒体代谢活性的抑制效应。方法在体外小鼠肝微粒体孵育体系中加入睾丸酮和不同柚子提取物后,以高效液相色谱法(HPLC)测定6-β羟基睾丸酮的生成量。结果6—β羟基睾丸酮的线性回归方程为y=0.0904x+0.1795,r=0.9986,x表示峰面积,y表示6-β羟基睾丸酮的含量,单位nmol/ml。4种柚子提取物A皮、C皮、A肉、C肉对6-β羟基睾丸酮生成的抑制率分别为47.9%、28.8%、82.4%和72.3%。结论几种柚子提取物较对照组对肝微粒体的代谢活性均有抑制效应,其中A肉的抑制率最大。  相似文献   
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