Evaluation of mid-term follow-up after Salter innominate osteotomy in developmental dysplasia of the hip / 中华外科杂志

<p><b>OBJECTIVES</b>To evaluate the mid-term outcome after Salter innominate osteotomy in developmental dysplasia of the hip (DDH), and to observe the developmental characteristics of the hip after operation and the relationships between the mid-term outcome and radiographic parameters as well as age at operation.</p><p><b>METHODS</b>: Forty-four patients with 61 treated hips were selected. The patients were treated with Salter innominate osteotomy and followed-up for at least three years with intact serial radiographs. Radiographs taken before operation, 6 weeks, 1 year and 2 - 3 years after operation and in the latest follow-up were selected. Acetabular index (AI), Sharp acetabular angle (SAA) and center-edge angle of Wiberg (CEA) were measured and Severin classification was done according to radiographs taken in the latest follow-up.</p><p><b>RESULTS</b>The average correction of AI was 14° postoperatively. The acetabulum remodels best at 2-3 years after operation when the average AI became very close to normal. In the latest follow-up the SAA was 41° which could be regarded as normal. Postoperative CEA was on average 23° which increased to 25° 2-3 years later. In the latest follow-up, the average CEA was 26°. The ratio of excellent and good outcomes (Severin I, II) was 84%, while the ratio of moderate and poor outcomes (Severin III, IV, V, VI) was 16%. Age at operation had a negative effect on outcomes. Although 70% patients operated after age 6 had satisfactory outcomes. The Severin I, II group showed no difference in AI from III, IV, V, VI group 6 weeks after operation, but the AI of the former obviously improved 2-3 years after operation while that of the latter deteriorated. Significant difference in SAA and the CEA could be observed in the latest follow-up.</p><p><b>CONCLUSIONS</b>Salter innominate osteotomy focuses on normalizing the abnormal acetabular direction in DDH children as well as stimulating the remodeling of the acetabulum, which provides a satisfactory middle-term outcome. The acetabulum remodels rapidly during the first three years after operation when AI and CEA develops into normal. Interference should be adopted if these changes have not appeared in the first three years.</p>

Proteomic analysis of the ankle joint bone, ankle joint tissue and spinal cord of clubfoot-like deformity in rat fetuses / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the etiology of idiopathic talipes equinovarus (ITEV) in all-trans retinoic acid (ATRA) induced clubfoot-like deformity in rat fetuses with two-dimensional gel electrophoresis (2-DE) and mass spectrometry (MS).</p><p><b>METHODS</b>Clubfoot-like deformity model in rat fetuses was induced with ATRA (135 mg/kg) in gestation day (GD10) pregnant Wistar rats. 2-DE was applied to separate the total proteins of ankle joint tissue, ankle joint bone and spinal cord of the animal models. The Coomassie Brilliant Blue staining gels were analyzed by 2-DE software PDQuest 7.1.0. Selected differential protein spots were identified with peptide mass fingerprinting based on matrix-assisted laser adsorption/ionization time-of-flight mass spectrometry and database searching. xiap, tnnt1 and col2 alpha 1, three genes of the differential proteins, were identified furthermore. Apoptosis study was made in terminal deoxynucleotidyl transferase nick end labeling.</p><p><b>RESULTS</b>There were many differential expressed proteins in the clubfoot-like deformity model. Out of the differentially expressed proteins,16 protein spots were identified to be differentially expressed in the clubfoot-like deformity model with MS. Three of the 16 protein spots, xiap, tnnt1 and col2 alpha 1 were confirmed to be significantly down-regulated by the RT-PCR, and Xiap was further confirmed to be significantly down-regulated with immunohistochemistry. Another randomly selected gene, ngfr, did not express differently in ATRA-induced clubfoot-like deformity in rat fetuses. The rates of the apoptosis in the spinal, bone of the clubfoot-like deformity fetuses was 5.4 and 10 times of those of the normal fetuses respectively.</p><p><b>CONCLUSION</b>The results suggest that there are certain differently expressed proteins in ankle joint tissue, ankle joint bone and spinal cord of the ATRA-induced clubfoot-like deformity in rat fetuses, and Xiap, sTnT, and Col2 alpha 1 show a significant correlation with ITEV. Ngfr is not correlation with ITEV. Apoptosis plays a key role in the development of ITEV and related to the decreased expression of the Xiap.</p>

Association and mutation analysis of GLI3 gene in idiopathic congenital talipes equinovarus / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the association and mutation of GLI3 gene in idiopathic congenital talipes equinovarus(ICTEV).</p><p><b>METHODS</b>(1) Genotype of 2 single nucleotide polymorphism (SNP) in 84 idiopathic congenital talipes equinovarus nuclear pedigree were analyzed by restriction fragment length polymorphism. Association analysis was directed between single SNP locus and ICTEV through ETDT software, respectively.(2) Mutation sites in exon 9,10,11,12 of GLI3 gene were detected in 103 patients with ICTEV by denaturing gradient gel electrophoresis technique.</p><p><b>RESULTS</b>rs929387ls located in exon 14 of GLI3 gene have transmission disequilibrium in 84 nuclear pedigrees (P<0.05), and rs846266 located in exon 4 have no transmission disequilibrium (P>0.05). A synonymous mutation in exon 9 was detected in one patient and his mother.</p><p><b>CONCLUSION</b>There is an association between GLI3 gene and ICTEV, and exons 9,10,11,12 are not its mutation hot spots.</p>

Association analysis on the polymorphisms of PCOL2 and Sp1 binding sites of COL1A1 gene and the congenital dislocation of the hip in Chinese population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the polymorphism distribution of the PCOL2 and Sp1 binding sites of the collagen type I alpha 1(COL1A1) gene in Chinese population and explore their relationship with congenital dislocation of the hip (CDH).</p><p><b>METHODS</b>The PCOL2 polymorphism (-1997 G/T) in COL1A1 promoter and the Sp1 polymorphism (1546 G/T) in intron 1 were genotyped in 243 members from 81 CDH nuclear family trios by the technique of polymerase chain reaction-restriction fragment length polymorphism, and then transmission disequilibrium test was used to analyze the data of genotypes.</p><p><b>RESULTS</b>No statistically significant association was observed between CDH and PCOL2 polymorphism. Significant differences of genotype and allele frequency distributions were detected between the Chinese population and the Caucasian population in Spain, and between the Chinese population and the Caucasian population in America. The allele at the Sp1 site that has been found to be polymorphic in other populations was not found in Chinese.</p><p><b>CONCLUSION</b>There exists racial difference in the distribution of the PCOL2 and Sp1 polymorphisms of COL1A1 gene. The results suggest that the PCOL2 and Sp1 polymorphisms may not be the major susceptibility gene of CDH in Chinese population.</p>

Analysis of association between 5' HOXD gene and idiopathic congenital talipes equinovarus / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>Four single nucleotide polymorphisms (SNP) in HOXD10, HOXD12 and HOXD13 genes were chosen to investigate SNP and haplotypes distribution in idiopathic congenital talipes equinovarus nuclear pedigrees.</p><p><b>METHODS</b>Genotypes of 4 SNPs in 84 idiopathic congenital talipes equinovarus nuclear pedigrees were analyzed by restriction fragment length polymorphism and DNA sequencing. Analysis of association between SNP locus and idiopathic congenital talipes equinovarus was performed using ETDT software. Haplotypes and their frequencies in 84 nuclear pedigrees were established and analyzed by TRANSMIT software.</p><p><b>RESULTS</b>rs847151 polymorphism was not detected; the rs847154 located in 5' flanking sequence of HOXD12 gene and the rs13392701 located in exon 1 of HOXD13 gene were noted to have transmission disequilibrium in 84 nuclear pedigrees (P < 0.05).</p><p><b>CONCLUSION</b>rs847154 located in 5' flanking sequence of HOXD12 gene and rs13392701 located in exon 1 of HOXD13 gene are associated with idiopathic congenital talipes equinovarus; HOXD12 andHOXD13 are important susceptible genes of idiopathic congenital talipes equinovarus.</p>

The primary observation of congenital clubfoot / 中华外科杂志

<p><b>OBJECTIVE</b>To explore the possible correlations between clinical and experimental pathological changes of congenital clubfoot and the pathodynamic developmental procedure.</p><p><b>METHODS</b>Eighty-three female Wistar rats were administered with retinoic acid on the 10th day after pregnancy. And from February 2001 to February 2004, 48 patients were analyzed with electropysiological examination.</p><p><b>RESULTS</b>There was clubfoot-like deformity in 53.7% of the experimental fetuses. Persistence of the embryonic position of the talus and tibia in fetuses was observed. Poor overlapping between talus and calcaneus was seen. Cell apoptosis at the anterior corner of spinal cord were seen. Of all the patients, 68.3% were abnormal with electropysiological examination. The pathological sites were frequently localized in lumbarsacral region.</p><p><b>CONCLUSION</b>Congenital clubfoot is correlated closely with defects of neural tube and spinal cord.</p>

Antiestrogenic effect of 2,3,7,8-tetrachlorodibenzo-p-dioxin on the gene expression of insulin-like growth factors family in osteoblast cells / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the antiestrogenic effect of environment teratogen on the gene expression of insulin-like growth factors (IGFs) family in osteoblast cells during rat skeleton development.</p><p><b>METHODS</b>The fetal rat models with congenital skeleton malformation were constructed by treating 20 female Wistar rats with 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) on pregnant day 10. The MC-3T3-E1 cells were cultured with estrogen, TCDD, or a combination of the two chemicals for 24 hours. The IGF-II and IGFBP-6 mRNA levels in rat calvaria bone tissue and MC-3T3-E1 cells were detected by reverse transcription-polymerase chain reaction. Flow cytometer was used to determine the cell proliferation.</p><p><b>RESULTS</b>TCDD at the concentration of 5-15 microg/kg induced developmental skeleton defect of fetal rat, and the effect was dose-dependent. The expression of IGF-II mRNA gene was enhanced by estrogen in rat calvaria bone tissue and MC-3T3-E1 cells, whereas IGFBP-6 mRNA was decreased. Estrogen increased the cell proliferation in MC-3T3-E1 cells. TCDD, however, inhibited the effect of estrogen on regulation of IGF-II gene and IGFBP-6 gene as well as MC-3T3-E1 cell proliferation.</p><p><b>CONCLUSION</b>These findings provide the evidence that TCDD can induce congenital fetal skeleton malformation under the condition of high estrogen level in pregnant Wistar rats. TCDD has antiestrogenic effect and hence exerts negative influence on the osteoblast cells through target IGF-II and IGFBP-6 of IGFs family.</p>

Transmission disequilibrium test for congenital dislocation of the hip and HOXB9 gene or COL1AI gene / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect the correlation between the congenital dislocation of the hip (CDH) and HOXB9 gene or COL1AI gene.</p><p><b>METHODS</b>A microsatellite DNA marker D17S1820 was chosen in the region of chromosome 17q21 where exists the HOXB9 gene which regulates the embryonic limb development and exists the COL1AI gene. The genotypes of 303 members in 101 CDH nuclear family trios were analyzed by the techniques of polymerase chain reaction(PCR) and denaturing polyacrylamide gel electrophoresis. Then transmission disequilibrium test (TDT) was used to test the data of genotypes.</p><p><b>RESULTS</b>There exist 12 alleles at this polymorphic locus. Transmission disequilibrium was found between CDH and the fourth allele of D17S1820 (chi-square=6.025,P=0.014).</p><p><b>CONCLUSION</b>CDH is associated with the region of chromosome 17q21. HOXB9 gene and/or COL1AI gene may be susceptibility genes of CDH.</p>