[Objective] Aneurysmal bone cyst of the ealeaneus is an uncommon entity. The purpose of the report is to describe aneurysmal bone cyst of the ealcaneus seen in a child.[ Methods] The clinical, radiological and histopathologic findings of a boy with aneurysmal bone cyst of the calcaneus were retrospectively analyzed with reference to literature. [ Results ]The tumor mainly involved the right calcaneus. He was treated successfully after the curettage and bone grafting. Histopathological examination revealed an aneurysmal bone cyst of the right calcaneus. He is now disease-free for 2 years, and no sign of recurrence was found. [ Conclusion] Aneurysmal bone cyst of the calcaneus is an uncommon entiy. To simple aneurysmal bone cyst,curettage and bone grafting are effective therapic method.

Objective To study the association of single nucleotide polymorphisms (SNPs) of the frizzled 6(FZD6) gene with neural tube defects(NTDs) in a northern Han Chinese population.Methods Three nonsynonymous SNPs in the FZD6 gene (rs827528,rs3808553,rs12549394) were examined.The SNPs were genotyped by polymerase chain reaction (PCR) and sequencing in 135 NTD patients and matched normal controls.The allele,genotype and haplotype frequencies were calculated and analyzed to examine the association between FZD6 SNPs and NTDs.Results Both T allele and TT genotype frequencies of the rs3808553 polymorphism in the NTDs group were significantly higher than those in the controls,and children with T allele and TT genotype were associated with increased risk of NTDs (OR =1.575,95％ CI 1.112-2.230,P =0.010 and OR =2.811,95％ CI 1.325-5.967,P =0.023 respectively).There were no significant differences among different genotypes or alleles in both rs827528 and rs12549394.Haplotypes AG-C and A-T-C were found associated with NTDs in the case-control study (OR =0.560,95％ CI 0.378-0.830,P=0.004 and OR=1.670,95％CI 1.126-2.475,P =0.011 respectively).Conclusions The rs3808553 polymorphism of FZD6 is obviously associated with NTDs in children of northern Han Chinese population.The TT genotype may increase the risk for NTDs.The rs827528 and rs12549394 polymorphisms of FZD6 may have no association with NTDs.

Objective To explore the association between maternal methylene tetrahydrofolate reductase (MTHFR) C677T polymorphism and neural tube defects (NTDs). Methods CBM, VIP, CNKI, Wanfang, PubMed and Web of Science databases from set up to March, 2014 were electronically searched to identify case-control studies on the relationship between maternal MTHFR C677T polymorphism and NTDs. The data were quantitatively analyzed by RevMan 5.0 software. Results A total of 25 studies were selected including 2 282 cases and 3 420 controls. Overall, the pooled OR (with 95%CI) under co-dominant model and allele contrast were 2.28(1.60-3.24), 1.25(1.02-1.53) and 1.42(1.21-1.67). Subgroup analysis showed significant association between maternal MTHFR C677T polymorphism and NTDs susceptibility in Asian populations. Conclusion The present meta-analysis suggests that MTHFR C677T polymorphism is significantly associated with maternal risk for NTDs, especially in Asian populations.

Objective To investigate the correlation between neural tube defects (NTDs) and DACT1 gene, and provide the basic data for disease diagnosis and genetic counseling. Methods Blood samples were obtained from 163 NTDs patients and 480 unrelated healthy individuals. Mutation detection of DACT1 gene and DNA direct sequencing was carried out by PCR amplification. Bioinformatics analysis of these mutated loci was performed. Results Six mutations were found in NTDs patients, including 4 missense mutations (p.R45W, p.D142G, p.N356K and p.V702G). But these mutations were not found in 480 healthy individuals. Three mutated amino acid residues (p.45R, p.142D and p.356N) were highly conservative in evolution, and the mutated carriers were female patients, and suffered from anencephaly. Conclusion DACT1 gene mutation may be a risk factor of NTDs in Han population of northern China.

Objective To investigate the surgical diagnosis and treatment of late vitamin K deficiency intracranial hemorrhage caused by biliary atresia. Methods Clinical data of six cases of biliary atresia with late vitamin K deficiency intracranial hemorrhage were collected in the Department of Neurosurgery of Tianjin Children’s Hospital from January 2000 to December 2013. Data were analyzed to identify the biliary atresia as soon as possible in the treatment of intracranial hemorrhage and prolonged jaundice in children. Results Six cases (1 male, 5 female), mean age was (16.0±2.6) days, and were treated with external drainage of intracranial hematoma and infusion therapy. In the treatment, children were found jaundice exacerbation and doubted about biliary atresia. After consultation by general surgeons, children were transferred to the department of general surgery for further treatment at an average age of (29.1±1.2) days, and were diagnosed as biliary atresia by intraoperative cholangiography. Conclusion Pediatric neurosurgeon should have a sufficient understanding and make an early diagnosis to late vitamin K deficiency intracranial hemorrhage caused by biliary atresia, to avoid delaying the optimal treatment time of biliary atresia.

We retrospectively analyzed clinical and imaging data of 26 children with split cord malformations (SCMs). Based on Pang's classification, 14 SCMs were defined as type Ⅰ and 12 as type Ⅱ.Neural function was markedly improved in 20 patients postoperatively. Three of 4 children who did not undergo surgical treatment had neural function deteriorated. Two children lost follow-up. We suggest that Pang's Classification of SCMs may be useful in describing pathological changes and guiding surgical procedure; imaging examine (including MRI, CT and X-ray) would play a significant role in confirmed SCMs diagnosis; and surgical operation should focus on eliminate and prevent spinal cord damnification.

OBJECTIVE To explore the origin and morphological features of small supernumerary marker chromosomes (sSMCs) in Turner syndrome. METHODS For 5 cases of Turner syndrome with a sSMC identified by conventional G-banding, dual-color fluorescence in situ hybridization (FISH) was applied to explore their origin and morphological features. RESULTS Among the 5 cases, 3 have derived from the X chromosome, which included 2 ring chromosomes and 1 centric minute. For the 2 sSMCs derived from the Y chromosome, 1 was ring or isodicentric chromosome, while the other was an isodicentric chromosome. CONCLUSION The sSMCs found in Turner syndrome have almost all derived from sex chromosomes. The majority of sSMCs derived from the X chromosome will form ring chromosomes, while a minority will form centric minute. While most sSMC derived from Y chromosome may exist as isodicentric chromosomes, and a small number may exist as rings. For Turner syndrome patients with sSMCs, dual-color FISH may be used to delineate their origins to facilitate genetic counseling and selection of clinical regime.

OBJECTIVE: To explore the characteristics of differentially methylated genes and gene ontology associated with neural tube defects (NTDs). METHODS: Twelve subjects from 3 NTDs pedigrees were enrolled. Patients with NTDs have served as the case group, while their family members with normal phenotypes have served as the control group. Genomic DNA was extracted from peripheral venous blood samples of the families and used for DNA methylation analysis. Pairwise comparison was carried out primarily for patient-offspring pairs, and co-segregation of methylation pattern with NTDs was analyzed. Pathway related to differentially methylated genes was predicted with DAVID software. RESULTS: Pairwise comparison indicated that VTRNA2-1 was the only gene in which all CpG sites were methylated. Co-segregation of VTRNA2-1 gene methylation with NTDs was found in all pedigrees. Pathways of hypermethylated genes included plasma membrane component, regulation of cellular protein metabolic process, and regulation of actin cytoskeleton organization, while the pathways of hypomethylated genes have included transcription regulator activity, cell adhesion, and neuronal differentiation. CONCLUSION Methylation of the VTRNA2-1 gene has co-segregated with NTDs in the studied pedigrees. The pathways of differentially methylated genes has involved with mechanism of neural tube development.
CpG Islands ; DNA Methylation ; Gene Ontology ; Humans ; MicroRNAs ; genetics ; Neural Tube Defects ; genetics ; Pedigree

OBJECTIVETo detect potential mutation in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency.

METHODSGenomic DNA was extracted from the peripheral blood samples of the proband, her family members and 100 healthy controls. All exons and flanking intronic regions of the ALDH5A1 gene were amplified by PCR and subjected to direct sequencing.

RESULTSThe proband was found to have compound heterozygous mutations of the ALDH5A1 gene, namely c.398_399delAA (p.N134X) and c.638G>T (p.R213L), for which her parents were both heterozygous carriers. The same mutations were not found among the 100 healthy controls.

CONCLUSIONThe novel mutations of the ALDH5A1 gene probably underlie the pathogenesis of the disease in the infant, which also enriched the mutation spectrum of the ALDH5A1 gene.

Amino Acid Metabolism, Inborn Errors ; ethnology ; genetics ; Amino Acid Sequence ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; DNA Mutational Analysis ; methods ; Developmental Disabilities ; ethnology ; genetics ; Exons ; genetics ; Family Health ; Female ; Heterozygote ; Humans ; Infant ; Introns ; genetics ; Male ; Mutation ; Sequence Homology, Amino Acid ; Succinate-Semialdehyde Dehydrogenase ; deficiency ; genetics

OBJECTIVE: To detect potential mutation in a Chinese pedigree affected with congenital limb malformations. METHODS: Clinical data was collected. Genomic DNA was extracted from peripheral blood samples of family members. The zone of polarizing activity regulatory sequence (ZRS) were amplified by PCR and subjected to direct sequencing. RESULTS: Among the 13 individuals in this pedigree, there were 4 PPD patients, who were characterized by varying degrees of deformity. The female patients suffered triphalangeal thumb and preaxial polydactyly, while the male patients only had preaxial polydactyly. Only one patient had foot involvement. TA heterogeneous mutations was discovered in the ZRS (105C>G) in all patients, the same mutation was not detected in 2 healthy family members. CONCLUSION The inheritance pattern of PPD was autosomal dominant inheritance. There was a significant variability of symptoms among family patients. The heterozygous mutation of the ZRS (105C>G) probably underlie the disease.
Female ; Genetic Testing ; Hand Deformities, Congenital ; genetics ; Humans ; Limb Deformities, Congenital ; genetics ; Male ; Membrane Proteins ; genetics ; Pedigree ; Polydactyly ; genetics ; Thumb ; pathology