Mapping the Haem-A-QoL to the EQ-5D-5L in patients with hemophilia.

OBJECTIVE: This study's objective was to develop an algorithm that mapping the Haem-A-QoL scores to EQ-5D-5L utility scores in patients with hemophilia in China. METHODS: A national sample of 862 patients with hemophilia completed both the EQ-5D-5L and Haem-A-QoL instruments. Eight regression models were selected to develop the mapping algorithm, they were: the ordinary least squares, general linear regression, Tobit regression, censored least absolute deviation, mixture beta regression, adjusted limited dependent variable mixture, the two-part, and robust MM-estimator model. Root mean squared error (RMSE), mean absolute error (MAE), and R-square (R2) calculated using the tenfold cross-validation and random sample validation methods were used to assess the predictive ability of the models. RESULTS: Based on RMSE, MAE, and R2, the mixture beta regression model with selected Haem-A-QoL subscale scores as the predicted variables showed the best performance. CONCLUSIONS: Our mapping algorithm bolsters the calculation of QALYs while conducting an economic evaluation of hemophilia-related interventions when only Haem-A-QoL data are available. The external validity of the algorithm should be further assessed in the other populations.

Interaction between common variants of FTO and MC4R is associated with risk of PCOS.

BACKGROUND: Polycystic ovary syndrome (PCOS) is a common and complex endocrine-metabolic disease. One of the well-documented characteristics of PCOS is obesity or overweightness. It is possible to be genetically predisposed to becoming obese or overweight, and several potentially causative single nucleotide polymorphisms (SNPs), such as rs9939609 (A/T) in the fat mass, and obesity-associated gene (FTO) and rs17782313 (T/C) in the melanocortin-4 receptor gene (MC4R), have been investigated. Further investigation of association between obesity-associated SNPs and PCOS susceptibility will contribute to a better understanding of the disease. METHODS: In the present study, we enrolled 733 patients with PCOS and 892 control subjects. The common variants FTO rs9939609 and MC4R rs17782313 were genotyped and their relationship with obesity-related traits was evaluated. RESULTS: Rs9939609 and rs17782313 are associated with PCOS and obesity-related traits and profiles. The association found between PCOS and FTO rs9939609 (p=0.0302) was attenuated after adjustment for BMI (p=0.187). MC4R rs17782313 did not confer an increased risk for PCOS (p=0.368) even after adjustments (p=0.715). Interestingly, the interaction of FTO and MC4R polymorphisms was more significantly associated with PCOS (p=0.031, adjusted for age and BMI). The FTO variant rs9939609 is associated with Chinese women with PCOS; however, this association is affected by BMI. CONCLUSIONS: The combined pathogenic effect of FTO and MC4R polymorphisms indicates a direct role of the interaction between FTO and MC4R polymorphisms in the development of PCOS.

Evaluating the psychometric properties of the EQ-5D-5L and SF-6D among patients with haemophilia.

OBJECTIVE: The aim of this study was to evaluate the psychometric properties of the EQ-5D-5L and SF-6D, and to compare their performance among patients living with haemophilia in China. METHODS: A total of 875 Chinese patients completed the EQ-5D-5L, SF-6D, and Haem-A-QoL questionnaires. Construct validity of the EQ-5D-5L and SF-6D dimensions and indices was assessed by testing hypotheses relating these measures to Haem-A-QoL and clinical measures. The Spearman correlation coefficient was used to assess convergent validity, and one-way analysis of variance (F statistic) was used to assess the known-groups validity (discriminatory power). The agreement between EQ-5D-5L and SF-6D indices was assessed using the intraclass correlation coefficient (ICC) and the Bland-Altman plot. RESULTS: Both the EQ-5D-5L and SF-6D indices showed acceptable ceiling and floor effects. As hypothesised, both EQ-5D-5L and SF-6D were significantly correlated with Haem-A-QoL (both dimensions and overall score). EQ-5D-5L and SF-6D indices as well as EQ-VAS differentiated patients are known to differ in severity of haemophilia, bleeding status, disabling levels, and comorbidity. The F statistics in the known-groups comparisons suggested that the EQ-5D-5L was slightly more discriminative than the SF-6D. ICC (0.41) and Bland-Altman plot confirmed that the agreement between the EQ-5D-5L and SF-6D indices was poor. CONCLUSION: Both EQ-5D-5L and SF-6D showed satisfactory construct validity in the measurement of the HRQoL among patients with haemophilia. However, the two instruments may not be used interchangeably in this patient population due to their poor agreement and differing discriminatory power.

[Expression of midkine in eutopic and ectopic endometrium of patients with severe endometriosis and its clinical significance].

OBJECTIVE: To investigate the expression of midkine (MK) in eutopic and ectopic endometrium of patients with severe endometriosis and its clinical significance. METHODS: Immunohistochemical streptavidin-biotin peroxidase (SP) method was used to detect MK expression and microvessel density (MVD) in eutopic and ectopic endometrium. Specimens of eutopic and ectopic endometrium were collected from 41 patients with serious endometriosis (study group) and 32 patients with uterine fibroid (control group). RESULTS: The positive rate of MK expression in the eutopic endometrium from study group was 63% (26/41). It was significantly higher than that in the ectopic endometrium from study group was 29% (12/41) and the eutopic endometrium from control group was 22% (7/32, P < 0.05). MK expression was positively correlated to microvessel density (r = 0.637, P < 0.05). CONCLUSION: Over-expression of MK protein is showed in the eutopic endometrium of patients with severe endometriosis and correlated to endometriotic angiogenesis. The change of MK expression in eutopic endometrium may be related to the pathogenesis of severe endometriosis.