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1.
Exp Eye Res ; 188: 107778, 2019 11.
Article in English | MEDLINE | ID: mdl-31472110

ABSTRACT

Myopia is one of the leading ocular disorders causing visual impairment worldwide, with the prevalence increasing rapidly. It's a significant global public health concern in 21st century. Myopia, particularly high myopia, often exhibits apparent familial aggregation, and multiple evidences have shown that genetic factors significantly contribute to its pathogenesis. Recent molecular technologies such as linkage analysis, candidate gene authentication, genome-wide association study (GWAS), and next-generation sequencing (NGS) have identified many myopia-associated loci and genetic mutations or variants. There exist ethnic variations in myopia occurrence as observed in populations of different genetic backgrounds, and different genetic components are found to be associated with the development of myopia-related phenotypes. A better understanding of the genetic basis triggering and controlling myopic changes may further help in myopia prevention. This review is to provide an updated overview of genetic findings in non-syndromic myopia.


Subject(s)
Myopia/genetics , Genetic Linkage , Genetic Predisposition to Disease , Genome-Wide Association Study , High-Throughput Nucleotide Sequencing , Humans , Mutation , Phenotype
2.
Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi ; 29(12): 1483-7, 2015 Dec.
Article in Chinese | MEDLINE | ID: mdl-27044215

ABSTRACT

OBJECTIVE: To explore the effectiveness of modified Ilizarov semi-ring external fixator combined with an ulnar osteotomy lengthening in the treatment of old dislocation of the radial head in children. METHODS: A retrospective analysis was made on the data of 14 patients with old dislocation of the radial head treated by the modified Ilizarov semi-ring external fixator combined with ulnar osteotomy lengthening between March 2012 and January 2015. The age ranged from 2 to 13 years (mean, 7.2 years), including 12 boys and 2 girls. There was 1 case of congential dislocation of the radial head and 13 cases of old Monteggia fracture. According to the Bado's classification, dislocation was rated as grade I in 12 cases and grade III in 2 cases. The elbow flexion-extension and forearm pronation and supination were compared between at pre- and post-operation; Mackay evaluation standard of elbow joint function was used to evaluate the effectiveness. RESULTS: The operation time ranged from 50 to 65 minutes (mean, 58 minutes). All patients were followed up 6-33 months (mean, 21 months). No complication of infection, myositis ossificans, or re-dislocation occurred. X-ray film showed bony healing at ulnar osteotomy site within 82-114 days (mean, 90 days). The elbow flexion-extension and forearm pronation and supination were significantly improved at postoperation when compared with preoperation (P < 0.05). The results of Mackay function assessment were excellent in 12 cases and good in 2 cases. CONCLUSION: The modified Ilizarov semi-ring external fixator combined with an ulnar osteotomy lengthening has the advantages of small incision, easy removal of fixator, satisfactory reduction, and no nonunion at ulnar osteotomy site in the treatment of old dislocation of the radial head, but the long-term effectiveness still needs to be followed up.


Subject(s)
External Fixators , Ilizarov Technique , Joint Dislocations/surgery , Monteggia's Fracture/surgery , Osteotomy , Adolescent , Bone Wires , Child , Child, Preschool , Elbow , Epiphyses , Female , Humans , Male , Radius Fractures , Retrospective Studies , Supination , Treatment Outcome
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