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Background: Previous genome-wide association study (GWAS) has revealed the association between MYP10 at 8p23 and MYP15 at 10q21.1 and high myopia (HM) in a French population. This study is managed to discover the connection between some single nucleotide polymorphism (located at MYP10 and MYP15) and Han Chinese HM.

Methods and Results: This case-control association study contained 1673 samples, including 869 ophthalmic patients and 804 controls. Twelve tag SNPs have been selected from the MYP10 and MYP15 loci and genotyped by SNaPshot method. Among 12 SNPs, rs4840437 and rs6989782 in TNKS gene were found significant association with HM. Carriers of rs4840437G allele and rs4840437GG genotype created a low risk of high myopia (P = .036, OR = 0.81, 95%CI = 0.71–0.93; P = .016, OR = 0.73, 95%CI = 0.56–0.96; respectively). Carriers of rs6989782T allele and rs6989782TT+CT genotype also had a decreased risk of high myopia (P = .048, OR = 0.82, 95%CI = 0.71–0.94; P = .006, OR = 0.74, 95%CI = 0.59–0.92; respectively). Other 10 SNPs displaced nonsignificant association with HM. Additionally, the risk haplotype AC and the protective haplotype GT, generated by two SNPs in TNKS, were considerably more likely to be association with HM (for AC, P = .002 and OR = 1.26; for GT, P = .027 and OR = 0.84).

Conclusions: Our results demonstrated that some heritable variants in the TNKS gene are associated with HM in the Han population. The possible functions of TNKS in the development and pathogenesis of hereditary high myopia still require further researches to identify.  相似文献   

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Aim

The purpose of this study is to find out whether telephone referral from Primary Health Care to Internal Medicine Consult manages to reduce waiting days as compared to traditional referral. This study also aims to know how acceptable is the telephone referral to general practitioners and their patients.

Design

No blind randomized controlled clinical trial.

Setting

Northern Huelva Health District.

Participants

154 patients.

Interventions

Patients referrals from intervention clinicians were sent via telephone consultation, whereas patients referrals from control clinicians were sent by traditional via.

Measurements

Number of days from referral request to Internal Medicine Consult. Number of telephone and traditional referrals. Number of doctors and patients denied. Denial reasons.

Results

A statistically significant difference was found between groups, with an average of 27 (21-34) days. Among General Practitioners, 8 of the first 58 total doctors after randomization and, subsequently, 6 of the 20 doctors of the test group refused to engage in the trial because they considered “excessive time and effort consuming”. 50% of patients referred by the 14 General Practitioners finally randomized to the intervention group were denied referral by telephone due to patient's complexity.

Conclusions

Telephone referral significantly reduces waiting days for Internal Medicine consult. This type of referral did not mean an “excessive time and effort consuming” to General Practitioners and was not all that beneficial to complex patients  相似文献   
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