RESUMO
OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with split hand/foot malformation (SHFM).@*METHODS@#Genomic DNA of the proband and other affected members was extracted from peripheral blood samples. Chromosomal microarray analysis was employed to detect genome-wide copy number variations (CNVs).@*RESULTS@#A 400 kb microduplication was identified in the 10q24.31-q24.32 region among all affected individuals. The microduplication has involved four genes, namely LBX1, BTRC, POLL and DPCD, in addition with part of FBXW4 gene.@*CONCLUSION@#The 10q24.31-q24.32 microduplication has segregated with the disease phenotype in this pedigree and probably underlay the SHFM malformation in the patients.
Assuntos
Humanos , Povo Asiático , Duplicação Cromossômica , Cromossomos Humanos Par 10 , Genética , Variações do Número de Cópias de DNA , Deformidades Congênitas do Pé , Genética , Testes Genéticos , Deformidades Congênitas da Mão , Genética , Deformidades Congênitas dos Membros , Genética , LinhagemRESUMO
Objective To explore the method of radiological diagnosis of early attacking congenital syphilis. Methods Seven cases of early attacking congenital syphilis of bone were retrospectively analyzed, diagnosed serologically, and were taken X-rays of the long bones. Results Bone radiographs abnormalities were identified in 6 of 7cases. Five cases suffered periotities, six cases metaphysitis, and three cases combined with diaphysitis. Seven cases had swollen soft tissue. The vertebraes, craniums and epiphysitis were not found abnormal in 7 cases. Diffusion, multiple and symmetric metaphysitis, periosteitis and osteitis were the radiological characters of congenital syphilis of bone. Conclusion Radiography can affirm the diagnose of early attacking congenital syphilis and definite the arrange and depth. Radiographs of the extremities should be routinely taken in suspected infants.
RESUMO
ve To explore the sanitary quality of swimming pool water of public places. Methods The sanitary quality of swimming pool water of 7 public places was monitored, and the sanitory facilities equiped in swim-ming pools were investigated in Jiangyin. Results The pH values, the levels of turbidity and urea in swimming pool water all accorded with the related sanitary standards, and their related qualified rates were 93.9% , 98.5% and 98.5% respectively. For water temperature and residual chlorine, the qualified rates were lower, 3.0% and 19.7% respectively. Both the levels of turbidity and urea were positively correlated with the openning durations of swimming pools (P