Chinese medical journal
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Chinese medical journal · Mar 2013
EDM1: a novel point mutation in cartilage oligomeric matrix protein gene in a Chinese family with multiple epiphyseal dysplasia.
Multiple epiphysis dysplasia (MED) is a common skeletal dysplasia with a significant locus heterogeneity. In the majority of clinically defined cases, mutations have been identified in the gene encoding cartilage algometric matrix protein (COMP). ⋯ This mutation produced a severe MED phenotype with marked short stature, early onset osteoarthritis, and remarkable radiographic changes. Our results extended the range of disease-causing mutations in COMP gene and contributed more information about relationship between mutations and phenotype.
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Chinese medical journal · Mar 2013
Association between single nucleotide polymorphisms and wheat-dependent exercise-induced anaphylaxis in Chinese population.
Wheat-dependent exercise-induced anaphylaxis (WDEIA) is a complex disease resulting from interaction of environmental and genetic factors. The aim of this study was to investigate the association of three single nucleotide polymorphisms (SNPs) (IL-4-C590T, IL-4RA A1727G and IL-10-A627C) with WDEIA. ⋯ IL-4-C590T may be related to the susceptibility of WDEIA, and the minor allele C might be a potential risk factor accounting for WDEIA. IL-4RA A1727G and IL-10-A627C might not be involved in the occurrence of WDEIA.
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Chinese medical journal · Mar 2013
Remnant-preserving posterior cruciate ligament reconstruction with graft tension-relieving: a comparative study with conventional technique.
Posterior cruciate ligament (PCL) tear is a severe injury to the knee joint and often requires surgical reconstruction. A number of PCL reconstruction techniques have been reported. However, the problem of residual laxity after surgery is not unusual with conventional techniques. This study aims to introduce a modified PCL reconstruction with remnant preservation and graft tension relieving. ⋯ Modified PCL reconstruction with remnant preservation and graft tension relieving showed better results in restoration of posterior stability compared to conventional technique.