Radiation hybrid mapping of 18 positional and physiological candidate genes for arthrogryposis multiplex congenita on porcine chromosome 5

We report the chromosomal assignment of 18 porcine genes to human homologues using the INRA-Minnesota swine radiation hybrid panel (IMpRH). These genes (CACNA1C, COL2A1, CPNE8, C3F, C12ORF4, DDX11, GDF11, HOXC8, KCNA1, MDS028, TMEM106C, NR4A1, PHB2, PRICKLE1, Q6ZUQ4, SCN8A, TUBA8 and USP18) are located on porcine chromosome 5 (SSC5) and represent positional and functional candidates for arthrogryposis multiplex congenita (AMC), which maps to SSC5. CPNE8, PRICKLE1, Q6ZUQ4 and TUBA8 were mapped to the interval for pig AMC between microsatellites SW152 and SW904. Three SNPs in TUBA8 co-segregated with the AMC phenotype in 230 pigs of our research population without recombination and could be used as a genetic marker test for AMC. In addition, we provide evidence that a small chromosomal region of HSA22q11.2 evolutionarily corresponds to SSC5q12-q22 (and contains the human homologues of porcine SW152, Q6ZUQ4, TUBA8 and USP18), while the regions flanking HSA22q11.2 on SSC5 correspond to HSA12p13 and HSA12q12. We identified seven distinct chromosomal blocks, further supporting extensive rearrangements between genes on HSA12 and HSA22 in the AMC region on SSC5.     

一个罕见的远端关节弯曲大家系的调查

发现一个连续遗传 7 代的手足畸型大家系,共计 175 人,有 32人发病,男性 18人,女性 14 人,可疑男性1人,患者表型复杂轻重不一,但双手均对称屈曲畸形,垂直踞骨导致足内翻或外翻。对该病家系成员的生活环境、饮食习惯、婚育史、身体状况、寿命、细胞遗传学等进行调查研究,确定这是一种罕见的远端关节弯曲遗传性疾病。     

锁骨远端锁定钢板治疗NeerⅡ型锁骨远端骨折的疗效及对肩关节功能恢复的影响

目的:探讨锁骨远端锁定钢板治疗NeerⅡ型锁骨远端骨折的疗效及对肩关节功能恢复的影响。方法:回顾性分析2015年7月～2017年10月期间四川省泸州市中医医院收治的107例NeerⅡ型锁骨远端骨折患者的临床资料,其中行锁骨钩钢板治疗的53例患者作为对照组,行锁骨远端锁定钢板治疗的54例患者作为研究组。比较两组术后1年的临床疗效,记录两组患者手术时间、术中出血量、手术切口长度、骨折愈合时间,比较两组术前、术后5周、术后10周肩关节功能情况,记录并发症发生情况。结果:研究组术后1年优良率为90.74%(49/54),显著高于对照组患者的64.15%(34/53)(P0.05)。两组患者手术时间、术中出血量、手术切口长度以及骨折愈合时间比较差异无统计学意义(P0.05)。两组患者术后5周、术后10周肩关节功能、肩关节活动度、X线评定、患侧肩部疼痛、关节稳定性评分高于术前,且术后10周高于术后5周(P0.05);研究组术后5周、术后10周上述指标评分高于对照组(P0.05)。研究组术后并发症总发生率为7.41%(4/54),低于对照组的32.08%(17/53)(P0.05)。结论:锁骨远端锁定钢板治疗NeerⅡ型锁骨远端骨折安全有效,可有效改善患者肩关节功能,促进术后恢复。     

LISS-DF近端螺钉不同固定方式的有限元分析

目的研究LISS-DF治疗股骨远端骨折近端螺钉不同固定方式对应力分布规律的影响,寻找符合生物力学原理的固定方式,为临床应用提供理论依据。方法在ANSYS9.0软件中建立LISS-DF钢板固定股骨远端骨折（AO/OTA33-A3型）的实体模型和有限元模型。在近端螺钉不同单、双皮质固定方式下,通过模拟生理应力做轴向加载实验并进行有限元计算和分析。结果1、3孔单2、4孔双皮质固定时,近端螺钉最大应力值在不同固定方式中最小为24.21975Mpa,位移值为0.131424um与其它固定方式相当且均较小,说明该固定方式可以取得较好的力学效果。结论近端螺钉靠近骨折端处双皮质固定,其余螺钉间隔单双皮质固定时,可以减少应力集中现象,得到更好的把持力,使固定更牢固,从而降低固定失败的风险性。     

Distal mutation modulates the heme sliding in mouse neuroglobin investigated by molecular dynamics simulation

Neuroglobin (Ngb), a hexa‐coordinated hemoprotein primarily expressed in the brain and retina, is thought to be involved in neuroprotection and signal transduction. Ngb can reversibly bind small ligands such as O₂ and CO to the heme iron by replacing the distal histidine which is bound to the iron as the endogenous ligand. In this work, molecular dynamics (MD) simulations were performed to investigate the functionally related structural properties and dynamical characteristics in carboxy mouse neuroglobin and three distal mutants including single mutants H64V, K67T and double mutant H64V/K67T. MD simulations suggest that the heme sliding motion induced by the binding of exogenous ligand is affected by the distal mutation obviously. Accompanying changes in loop flexibility and internal cavities imply the structural rearrangement of Ngb. Moreover, the solvent accessibility of heme and some crucial residues are influenced revealing an interactive network on the distal side. The work elucidates that the key residues K67 at E10 and H64 at E7 are significant in modulating the heme sliding and hence the structural and physiological function of Ngb. Proteins 2010. © 2010 Wiley‐Liss, Inc.     

大鼠肾近曲小管、远曲小管和集合管壁厚的性别差异

运用光学显微镜对雌、雄大鼠的近曲小管、远曲小管和集合管的壁厚分别进行了测量,结果发现:雌、雄大鼠的近曲小管和集合管存在明显的性别差异(P<0.05);而远曲小管差异不明显(P>0.05).研究结果提示:雌、雄大鼠近曲小管和集合管的功能可能存在显著的性别差异.     

Distal trisomy of 10q. Report of a new case of duplication 10q25.2-25.3-->qter defined by FISH

In the present work, we report on a 2.5-year-old male patient with typical clinical features of partial trisomy of the distal third of chromosome 10 long arm. The karyotype was: 46,XY, dir dup(10)(q25.2-25.3-->qter). The identification of the duplicated segment was carried out by the fluorescence in situ hybridization technique using region-specific probes. The proband's phenotype is compared with previously reported cases.     

双钢板治疗肱骨远端C型骨折的疗效及影响预后的相关因素分析

目的:研究双钢板治疗肱骨远端C型骨折的疗效,并探讨影响预后的相关因素。方法:选取2009年1月至2013年8月86例我院收治的肱骨远端C型骨折患者,按知情同意原则随机分为双钢板固定组(43例)及Y型钢板固定组(43例),2组患者均给予经尺骨鹰嘴截骨入路切开复位内固定术后再分别行双钢板及Y型钢板固定,记录两组患者的改良cassebaum肘关节评分、骨折愈合时间及并发症情况,并分析影响患者预后的相关因素。结果:双钢板固定组治疗的优良率高于Y型钢板固定组(P0.05),骨折愈合时间及并发症发生率均低于Y型钢板固定组,差异均有统计学意义(P0.05);骨折类型、合并损伤、内固定方法、术后功能锻炼是影响预后的因素(P0.05)。结论:双钢板的经尺骨鹰嘴截骨入路切开复位内固定术在治疗肱骨远端C型骨折患者时有良好的疗效,合并伤、内固定方法、骨折类型、术后锻炼是影响预后的因素,应针对性地采取措施。     

T型锁定接骨板治疗老年桡骨远端不稳定性骨折的临床疗效

目的:探讨老年桡骨远端不稳定性骨折采用桡骨远端T型锁定接骨板治疗的临床疗效及安全性。方法:选择2013年7月-2015年4月在我院接受治疗的老年桡骨远端不稳定性骨折患者80例,根据手术方式不同分为观察组和对照组。观察组患者采用桡骨远端T型锁定接骨板治疗,对照组采用外固定支架治疗。观察并比较两组患者的临床疗效及手术安全性。结果:观察组骨性愈合时间少于对照组,掌倾角及尺偏角大于对照组,差异有统计学意义(P0.05)。观察组治疗后腕关节功能优于对照组,差异有统计学意义(P0.048)。观察组患者腕关节慢性疼痛、骨折感染的发生率低于对照组,差异有统计学意义(P0.05)。结论:桡骨远端T型锁定接骨板治疗老年桡骨远端不稳定性骨折具有复位效果好、创伤小且安全性高的特点,有一定的临床推广价值。     

石膏固定和外固定支架在老年骨质疏松性桡骨远端骨折中的疗效比较

目的:分析石膏固定和外固定支架在治疗老年骨质疏松性桡骨远端骨折中的治疗效果,为临床治疗提供参考依据.方法:选取在我院诊治的93例老年骨质疏松性桡骨远端骨折患者作为研究对象,根据治疗方法不同分为石膏固定组和外固定支架组,并采用Jakim评分系统对两组患者腕关节功能进行评价.结果:术后6个月,石膏固定组主观指标评分为(26.7±2.2)分,支架组为(22.3±2.6)分,经t检验,差异有统计学意义,P＜0.05;石膏固定组优良率为83.3％,支架组为86.3％,经卡方检验,差异无统计学意义,P＞0.05.结论:手法复位石膏固定固定和闭合复位外固定支架固定治疗老年骨质疏松性桡骨远端骨折均有较好的治疗效果,石膏固定疗法更易被老年患者接受.     

Distal tubular segments of the rabbit kidney after adaptation to altered Na- and K-intake

Summary The baso-lateral cell-membrane area in kidney tubules appears to be associated with the capacity for electrolyte transport; in the rabbit, it decreases from the distal convoluted tubule (DCT-cells) over the connecting tubule (CNT-cells) to the cortical collecting duct (principal cells).Adaptation to low Na-, high K-intake changes this pattern: CNT-cells at the beginning of the connecting tubule have the highest membrane area, which decreases along the segment, but remains two-fold higher than in controls. Principal cells have a four-fold higher membrane area than in controls. Simultaneous treatment with the antimineralocorticoid canrenoate-K inhibits the structural changes in CNT-cells only in end-portions of the connecting tubule and in principal cells.After prolonged high Na-, low K-intake DCT-cells display a two-fold higher membrane area than controls, while CNT-cells and principal cells are not affected. Simultaneous treatment with DOCA does not affect the DCT-cells but provokes a moderate increase in membrane area in CNT-cells, and a 5.5-fold increase in principal cells.The data provide evidence that DCT-, CNT- and principal cells are functionally different cell types. The baso-lateral cell-membrane area, associated with electrolyte-transport capacity, appears to be influenced in DCT-cells mainly by Na-intake, in CNT-cells mainly by K-intake and in part also by mineralocorticoids, and in principal cells mainly by mineralocorticoids.Supported by SFB90, CARVAS, Heidelberg and Swiss National Science Foundation, Grant No. 3.900-0.79     

64 排螺旋CT不同重建方法在桡骨下端隐匿性骨折诊断中的临床应用

目的:研究64排螺旋CT不同重建方法在桡骨下端隐匿性骨折(OFDR)诊断中的临床应用。方法:选择2012年6月至2015年6月在我院接受手术治疗的46例OFDR患者作为研究对象,所有患者均通过64层的Somatom Definition AS型CT机实施双侧腕关节的容积扫描,分别利用轴位、矢状位及冠状位MPR以及VR等重建方法评价OFDR图像,对比不同方位的多平面重建(MPR)图像与容积重建(VR)图像对于OFDR的显示率情况,CT不同重建方法的诊断情况及诊断价值。结果:四种方式联合检测对于OFDR的显示率最高,为100.00%。矢状位MPR及冠状位MPR对于OFDR的显示率均分别显著高于轴位MPR及VR,差异均有统计学意义(P0.05)。轴位MPR的真阳性26例,真阴性4例;矢状位MPR的真阳性41例,真阴性1例;冠状位MPR的真阳性36例,真阴性2例;VR的真阳性23例,真阴性1例;四种方式联合检测的真阳性44例,真阴性2例。四种方式联合检测的灵敏度、特异度及准确度均最高,为100.00%,其次为矢状位MPR及冠状位MPR。结论:64排螺旋CT能够较好地诊断OFDR,重建方法应用矢状位MPR及冠状位MPR可获得更为清晰的图像显示价值,效果明显,值得临床应用。     

LISS钢板治疗股骨远端骨折有限元建模及分析

目的建立LISS-DF治疗股骨远端骨折近端螺钉不同单双皮质固定的三维有限元模型,并进行初步生物力学分析。方法提取CT图片相关数据,利用自行编写程序生成命令流文件,建立完整股骨以及16个不同LISS-DF治疗股骨远端AO分型33-A3型骨折的实体模型（钢板和股骨不接触、螺钉分别固定于钢板和股骨）,进行网格划分。分析不同载荷作用下完整股骨和LISS钢板近端螺钉全双皮质固定治疗骨折的模型受力状况。结果建立了相关的有限元模型。不同载荷作用下,LISS钢板近端螺钉全双皮质固定模型和完整股骨的应力集中均位于股骨颈内侧和股骨干外侧中下1/3处。相同载荷作用下,LISS钢板近端螺钉全双皮质固定模型的股骨颈部最大等效应力值略减小,股骨干最大等效应力值明显减小。结论研究建立的三维有限元模型,为应用LISS治疗股骨骨折的生物力学分析提供了良好的实验平台和基础。从生物力学角度而言,LISS-DF近端螺钉全双皮质固定为治疗股骨远端复杂骨折的有效方法。     

B超引导下臂丛神经阻滞麻醉对老年桡骨远端粉碎性骨折患者的麻醉效果分析

摘要 目的：研究B超引导下臂丛神经阻滞麻醉对老年桡骨远端粉碎性骨折患者的麻醉效果。方法：选择2018年12月～2020年6月我院的80例老年桡骨远端粉碎性骨折患者,采用随机数字表法,将患者均分为两组。两组均实施臂丛神经阻滞麻醉,其中对照组使用传统的解剖定位法,观察组使用B超引导法。比较两组的麻醉效果、麻醉用药剂量、阻滞起效时间、麻醉完成时间、镇痛维持时间;不同时间的平均动脉压、心率;且记录两组的脊髓麻痹、气胸、呼吸困难、局麻药物中毒发生率。结果：观察组老年桡骨远端粉碎性骨折病人的麻醉效果优良率（95.00 %）明显高于对照组（77.50 %,P<0.05);观察组的麻醉用药剂量、阻滞起效时间、麻醉完成时间均显著低于对照组,镇痛维持时间长于对照组(P<0.05);两组T2和T3时间点的平均动脉压和心率明显高于T1(P<0.05),且观察组的平均动脉压和心率明显更低(P<0.05);观察组的脊髓麻痹、气胸、呼吸困难、局麻药物中毒发生率明显更低(P<0.05)。结论：B超引导臂丛神经阻滞麻醉能提高老年桡骨远端粉碎性骨折患者的麻醉效果。     

拇指背侧皮神经营养血管皮瓣修复对拇指远端软组织缺损的效果观察

目的:探讨拇指背侧皮神经营养血管皮瓣修复拇指远端软组织缺损的临床效果。方法:选取我院2014年1月至2016年12月收治的拇指远端软组织缺损患者100例,随机分为对照组和观察组。对照组采取腹部皮瓣对拇指远端软组织缺损进行修复,观察组采取拇指背侧皮神经营养血管皮瓣对其进行修复。通过随访患者,记录分析皮瓣的生存状况、感觉指标、外观以及手部功能的DASH评分比较两组的修复效果。结果:观察组50例患者皮瓣全部成活。对照组50例皮瓣全部成活。与对照组相比,观察组在触觉、温度觉、单丝、两点辨别觉、瘢痕挛缩方面明显优于对照组(P0.05),臃肿发生率明显低于对照组(P0.05)。观察组DASH评分为29.56±2.14分,对照组为38.13±3.12分,观察组的DASH评分明显低于对照组(P0.05)。结论:拇指背侧皮神经营养血管皮瓣修复拇指远端软组织缺损手术不破坏主要血管神经,对供区影响小,操作简单,修复的指腹感觉,拇指外形较佳,是较为理想的选择。     

Distal C‐terminus of Cav1.2 is indispensable for the chondrogenic differentiation of rat dental pulp stem cells

The α1 subunit (Cav1.2) of the L‐type calcium channel (LTCC), which is presently existing in both excitatory cells and non‐excitatory cells, is involved in the differentiation and proliferation of mesenchymal stem cells (MSCs). Dental pulp stem cells (DPSCs), MSCs derived from dental pulp, exhibit multipotent characteristics similar to those of MSCs. The aim of the present study was to examine the contribution of Cav1.2 and its distal C‐terminus (DCT) to the commitment of rat DPSCs (rDPSCs) toward chondrocytes and adipocytes in vitro. The expression of Cav1.2 was obviously elevated in chondrogenic differentiation but did not differ significantly in adipogenic differentiation. The chondrogenic differentiation but not adipogenic of rDPSCs was inhibited by either blocking LTCC using nimodipine or knockdown of Cav1.2 via short hairpin RNA (shRNA). Overexpression of DCT rescued the inhibition by Cav1.2‐shRNA during chondrogenic differentiation, indicating that DCT is essential for the chondrogenic differentiation of rDPSCs. However, the protein level of DCT decreased after chondrogenic differentiation in wild‐type cells, and overexpression of DCT in rDPSCs inhibited the phenotype. These data suggest that DCT is indispensable for chondrogenic differentiation of rDPSCs but that superfluous DCT inhibits this process. Through the analysis of differentially expressed genes using RNA‐seq data, we speculated that the regulation of DCT might be mediated by the mitogen‐activated protein kinase/extracellular‐regulated kinase and c‐Jun N‐terminal kinase signaling pathways, or Chondromodulin‐1.     

The distal aorta in the Marfan syndrome

Prolonged survival of patients with Marfan syndrome after aortic root replacement has led to an increased number of patients with aortic complications beyond the root. Elective replacement of the aortic root removes the most important predilection site for aneurysms, but the distal aorta remains at risk. Predictors for aortic growth and adverse events in the distal aorta include aortic diameter, aortic distensiblity, previous aortic root replacement, hypertension and aortic regurgitation. After aortic dissection, the initial false lumen diameter is an independent predictor for late aneurysm formation. Although there are a few reports of short-term success after endovascular stent grafting of the descending thoracic aorta, stent grafting in patients with Marfan syndrome is not recommended unless intervention is clearly indicated and the risk of conventional open surgical repair is deemed prohibitive. Optimal long-term outcome demands lifelong radiographic follow-up and medical treatment with β-blocker therapy. After aortic dissection rigorous antihypertensive medication is of utmost importance. Losartan, an angiotensin II type I receptor antagonist, might offer the first potential for primary prevention of clinical manifestations in Marfan syndrome, but the results of clinical trials have to be awaited. (Neth Heart J 2008;16:382-6.)