骨骺部位及其闭合时间与骨折部位及其发病率对应关系的初步研究

［摘要］〖HTSS〗人体骨骺出现及闭合时间因骨骼部位不同而存在差异。在临床中发现,机体受到间接暴力造成骨折时,骨骺接合部的骨折发生率较高,骨骺闭合较晚的部位较临近部位更易发生骨折,且骨折线走形与骺板融合部走形存在一定相关性。本文对全身重要骨骺部位及其闭合时间与骨折部位及其发生率的对应关系进行了初步研究。     

Provisionally unique autosomal recessive chondrodysplasia punctata syndrome

Stippled epiphyses occur in several monogenie, teratogenic, or aneuploidy syndromes. We describe two sibs with a provisionally unique chondrodysplasia punctata syndrome, who have, in addition to stippled epiphyses, minor facial anomalies, short stature, and ocular colobomata. Inheritance of this condition is likely autosomal recessive. © 1993 Wiley-Liss, Inc.     

常规超声定量评估骨龄

目的 与X线评估骨化率（OR）对比,评价常规超声评估标准骨龄（BA）的价值及其简易方法。方法 对215例患者（男88例,女127例）于1周内先后行左手及腕部X线检查和超声检查,测量桡骨、尺骨,第1、3、5掌骨,第1、3、5近节指骨,第3、5中节指骨及第1、3、5远节指骨共13块骨骼的骨化中心及骨骺长径,计算各目标骨骨化中心与骨骺长径之比,获得其OR及BA,分析OR与BA的相关性。结果 男、女性患者各目标骨的OR与BA呈中-高度相关（r_男为0.77~0.94,r_女为0.77~0.93,P均<0.001）,13块骨骼的OR总和与BA呈高度相关（r_男=0.96,r_女=0.96,P均<0.001）,桡骨、尺骨OR总和与BA呈高度相关（r_男=0.95,r_女=0.95,P均<0.001）。结论 常规超声具有定量评估BA的潜在价值;仅测量桡骨及尺骨或可作为超声评估BA的简易方法。     

The spectrum of skeletal changes associated with long-term administration of 13-cis-retinoic acid

The roentgenographic changes noted in 13 patients, who had been treated with long-term 13-cis-retinoic acid for inherited scaling disorders, are presented. These patients were aged 13–16 years and had received this therapy for 16–87 months (mean, 58 months). The most pronounced abnormality was osteophyte formation, particularly in the cervical spine. Other changes which were noted included ossification of the anterior longitudinal and atlanto-occipital ligaments, proliferative enthesopathies, diminished bone density, premature fusion of epiphyses, and modeling abnormalities. Six of the 13 patients were asymptomatic and the osseous manifestations of this therapy were identified only by roentgenographic evaluation.     

Metaphyseal acroscyphodysplasia

Based on two independent personal cases and a pair of sibs from the literature, we delineate a new category of bone dysplasia with cup-shaped large metaphyses, for which the name metaphyseal acroscyphodysplasia is suggested. The main clinical features are severe growth retardation, micromelia predominating in the lower limbs, knee flexion, and severe brachydactyly. The radiological aspect of the knees is very specific: the lower femoral and upper tibial epiphyses embed themselves in their metaphyses, which are severely cup-shaped. Premature central epiphyso-metaphyseal fusion and gross deformation, or even coalescence, of the femoral condyles may occur. The femoral diaphyses are very short and broad, and there is progressive coxa valga. Bowed and/or short stubby tibiae with cone-shaped metaphyses, and varus deformity of the tibio-astragalian joint are other features. Slight deformations of the long bones occur in the upper limb. Severe brachydactyly, brachymesophalangy, phalangeal and metacarpal cone-shaped epiphyses and irregular, bent and shortened diaphyses are the main signs of hand involvement. Psychomotor retardation is present in 3/4. Autosomal recessive inheritance is likely.     

Identification of avascular necrosis in the dysplastic proximal femoral epiphysis

Bilateral radiographic irregularities and deformities of the proximal femoral epiphyses are features of both multiple epiphyseal dysplasia and bilateral idiopathic avascular necrosis. In the past these entities have been difficult to differentiate. This report documents radiographically the occurrence of avascular necrosis in 10 patients with multiple epiphyseal dysplasia by recognizing the superimposition of sclerosis and subchondral fissuring on pre-existing symmetrically irregular proximal femoral ossification centers. Scintigraphic (photopenia) or magnetic resonance (loss of signal) criteria of avascular necrosis confirm its added presence and help to establish an imaging scheme to identify avascular necrosis superimposed on multiple epiphyseal dysplasia.     

闭合复位治疗婴幼儿髋关节发育不良82例临床分析

目的:探讨年龄、性别、脱位侧别、脱位程度、石膏固定体位、内收肌切断与否、术前股骨头骨化核出现与否与要幼儿髋关节发育不良股骨头坏死之间的关系。方法:82例(90髋)髋关节发育不良采用闭合复位,术前均行过头皮牵引,全麻下进行复位,其中51髋术前行内收肌切断术,67髋复位后用改良蛙式石膏固定,23髋复位后用人体位石膏固定,固定时间6-9个月。结果:82例平均随访8年2个月,股骨头坏死发生率为33.3%,其中复位时年龄为12～24个月龄39髋中12髋(30.8%)发生股骨头坏死,24-36个月龄的33髋中18髋(54.5%)发生股骨头坏死,Ⅰ°脱位20髋未发生坏死,Ⅱ°脱位51髋中12髋(23.5%)发生股骨头坏死,Ⅲ°脱位19髋中18髋(94.7%)发生股骨头坏死。结论:股骨头坏死与髋脱位程度、诊治时年龄、骨化核出现与否有密切相关,其中与脱位程度相关最密切,其次是诊治年龄,而后为骨化核的出现。     

Radiological signs of mucolipidosis II or I-cell disease A study of nine cases

Nine cases of mucolipidosis II are presented with illustrations and a discussion of specific radiologic features: these distinguish Mucolipidosis II from other storage diseases.     

SiRNA沉默Sox-9基因调控骨骺干细胞的增殖及凋亡

背景：目前有研究表明,很多细胞生长因子可促进骨骺干细胞的增殖和分化,并且这种调控作用与Sox-9有密切的关系。 目的：观察小分子干扰RNA沉默Sox-9基因及对大鼠骨骺干细胞增殖、凋亡的影响。 方法：采用酶消化法分离、免疫磁珠法纯化及免疫组织化学SABC法鉴定得到大鼠骨骺干细胞,首先进行预转染Sox-9 siRNA,判断转染效率,实验分2组：对照组常规培养,实验组采用Sox-9 siRNA转染。 结果与结论：实验成功分离、纯化了原代骨骺干细胞,生长状态稳定、贴壁牢固,光学显微镜下细胞多呈梭形。免疫组织化学染色和免疫荧光鉴定显示,Sox-9 siRNA转染的大鼠骨骺干细胞可稳定表达相对特异性标志物成纤维细胞生长因子受体3。RT-PCR,MTT,流式细胞仪检测检结果提示,与对照组相比,实验组Sox-9 mRNA表达及细胞存活率降低(P < 0.05),凋亡率增加(P < 0.05)。结果证实,siRNA沉默Sox-9基因可调控大鼠骨骺干细胞的增殖和凋亡。