Thyrotoxic periodic paralysis (TPP) is a potentially life-threatening complication of thyrotoxicosis. We conducted a genome-wide association study (GWAS) and a replication study with a total of 123 southern Chinese with TPP (cases) and 1,170 healthy controls and identified a susceptibility locus on chromosome 17q24.3 near KCNJ2 (rs312691: odds ratio (OR) = 3.3; P(meta-analysis) = 1.8 × 10(-14)). All subjects with TPP also had Graves' disease, and subsequent TPP versus Graves' disease comparison confirmed that the association at 17q24.3 was specific to TPP. The area under the curve (AUC) of rs312691 genotype for risk prediction of TPP in subjects with Graves' disease was 0.73. Expression quantitative trait locus (eQTL) analysis identified SNPs in the region flanking rs312691 (±10 kb) that could potentially affect KCNJ2 expression (P = 0.0001). Our study has identified a susceptibility locus associated with TPP and provides insight into the causes of TPP.
We performed a prospective cohort study on a consecutive series of 35 unstable, dorsally displaced distal radius fractures, which were treated with palmar locking plates and SmartLock locking screws. There were 17 men and 18 women with a mean age of 44 years who were reviewed at a mean follow-up of 10 months. All the fractures healed at a mean time of 7 weeks. Radiographs did not show any change in alignment from the initial postoperative period until fracture union. The average Mayo wrist score was 90 after fracture union. One patient had an early loss of fracture reduction and one patient developed complex regional pain syndrome. There was no difference in the quality of life before and after surgery. Palmar plate fixation using SmartLock locking screws is effective and safe in stabilising unstable dorsally displaced distal radius fracture and produces good radiological and functional outcomes.
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