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

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.

Objective To study the effect of multi-point multi-axis suspension training on nonspecific low back pain (NLBP) through surface electromyography (sEMG). Methods From October, 2016 to November, 2017, 24 patients with unilateral NLBP (NLBP group) were randomly divided into dynamic group (n=12) and static group (n=12); other 12 healthy volunteers were selected as control group. NLBP group was trained on multi-point multi-axis suspension training system, the dynamic group accepted pelvic-up training in the supine position, while the static group accepted lumbar neutral keep training, for ten days. NLBP group was measured with average electromyographic values (AEMG) of affected musculi multifidi before and after treatment, and assessed with Visual Analogue Scale (VAS) of pain; while the control group was measured AEMG of unilateral musculi multifidi. Results The AEMG in static and pelvic-up positions was more in NLBP group than in the control group before treatment (t>3.209, P<0.01), and it was less when keeping neutral position (t=-2.364, P<0.05). The AEMG improved in NLBP groups after treatment (t>2.982, P<0.01). The AEMG in static position and in keeping neutral position was not significantly different among the three groups after treatment (F<2.921, P>0.05), and it was the most in the dynamic group as pelvic-up (P<0.001). The score of VAS decreased in both NLBP groups after treatment (t>10.416, P<0.001), and it was less in the static group than in the dynamic group (t=-4.389, P<0.001).Conclusion sEMG changes take place in patients with NLBP. Multi-point multi-axis suspension training is effective through improving the core muscle group, and it is more effective in static maintenance training.