RESUMEN
We develop linear mixed models (LMMs) and functional linear mixed models (FLMMs) for gene-based tests of association between a quantitative trait and genetic variants on pedigrees. The effects of a major gene are modeled as a fixed effect, the contributions of polygenes are modeled as a random effect, and the correlations of pedigree members are modeled via inbreeding/kinship coefficients. F -statistics and χ 2 likelihood ratio test (LRT) statistics based on the LMMs and FLMMs are constructed to test for association. We show empirically that the F -distributed statistics provide a good control of the type I error rate. The F -test statistics of the LMMs have similar or higher power than the FLMMs, kernel-based famSKAT (family-based sequence kernel association test), and burden test famBT (family-based burden test). The F -statistics of the FLMMs perform well when analyzing a combination of rare and common variants. For small samples, the LRT statistics of the FLMMs control the type I error rate well at the nominal levels α = 0.01 and 0.05 . For moderate/large samples, the LRT statistics of the FLMMs control the type I error rates well. The LRT statistics of the LMMs can lead to inflated type I error rates. The proposed models are useful in whole genome and whole exome association studies of complex traits.
Asunto(s)
Estudios de Asociación Genética , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Modelos Genéticos , Carácter Cuantitativo Heredable , Simulación por Computador , Familia , Humanos , Modelos Lineales , Miopía/genéticaRESUMEN
PURPOSE: To evaluate the clinical efficacy of ultrasound-guided percutaneous microwave ablation (PMWA) therapy for symptomatic uterine fibroids in a multicentre study. MATERIALS AND METHODS: Patients with symptomatic uterine fibroids who underwent PMWA at multiple treatment centres in China between January 2013 and August 2015 were prospectively studied to compare the reduction rate of uterine fibroids, haemoglobin level and uterine fibroid symptom and health-related quality of life questionnaire (UFS-QOL) scores before and at 3, 6 and 12 months after ablation. RESULTS: A total of 311 patients (405 leiomyomas) from eight treatment centres underwent the treatment (age, 29-55 years; mean ± SD, 41 ± 5.11 years). The mean diameter of the myomas ranged from 2.03 to 12.50 cm (mean, 5.10 ± 1.28 cm) and the volume ranged from 4.40 to 1022.14 cm3 (mean, 95.01 ± 70.29 cm3). Forty-eight myomas were identified as FIGO type 1/2 fibroids, 256 as type 3/4 fibroids and 101 as type 5/6 fibroids. The mean ablation rate was 86.6% (54.0-100%). The mean reduction rate was 63.5%, 78.5% and 86.7% at 3, 6 and 12 months posttreatment, respectively. The haemoglobin level increased significantly from 88.84 ± 9.31 g/L before treatment to 107.14 ± 13.32, 116.05 ± 7.66 and 117.79 ± 6.51 g/L at 3, 6 and 12 months posttreatment, respectively (p = .000). The symptom severity score (SSS) and health-related quality of life (HRQL) scores were also significantly improved posttreatment compared with before treatment (p = .000). CONCLUSION: PMWA is an effective, minimally invasive treatment for symptomatic leiomyomas that can significantly improve the quality of life of patients.
Asunto(s)
Técnicas de Ablación , Leiomioma/cirugía , Microondas/uso terapéutico , Neoplasias Uterinas/cirugía , Adulto , China , Femenino , Humanos , Leiomioma/diagnóstico por imagen , Leiomioma/patología , Persona de Mediana Edad , Calidad de Vida , Encuestas y Cuestionarios , Resultado del Tratamiento , Carga Tumoral , Ultrasonografía , Neoplasias Uterinas/diagnóstico por imagen , Neoplasias Uterinas/patologíaRESUMEN
Objective The aim of this study was to analyse the significant variables for vaginal discharge after ultrasound-guided percutaneous microwave ablation (PMWA) therapy. Materials and methods PMWA was performed on 117 patients with adenomyosis from October 2012 to July 2014. The presence or absence, colour, quantity and duration of vaginal discharge, which was different from pre-ablation, were recorded within 1 year after PMWA. Patients were categorised into G1 (n = 26, without vaginal discharge), G2 (n = 40, vaginal discharge lasting 1 to 19 days), and G3 (n = 51, vaginal discharge lasting ≥20 days) groups. The potentially correlative variables were analysed. Variables with significant correlations with vaginal discharge post-ablation were identified via binary logistic regression analysis. Results The differences in adenomyosis type, pre-ablation uterine volume, total microwave ablation energy, total non-perfused volume (NPV) and minimum distance from the non-perfused lesion (NPL) margin to the endomyometrial junction (EMJ) among groups were statistically significant (p = 0.005, p = 0.000, p = 0.000, p = 0.005 and p = 0.000, respectively). Minimum distance from the NPL margin to the EMJ was the strongest predictor of vaginal discharge post-ablation with odds ratio (OR) 0.632, p = 0.018, 95% CI 0.432-0.923. Patients with diffuse adenomyosis were more likely to have prolonged vaginal discharge (≥20 days) post-ablation (OR 3.461, p = 0.000, 95% CI 1.759-7.536). Conclusion The minimum distance from the NPL margin to the EMJ and adenomyosis type were significantly associated with vaginal discharge post-ablation.
Asunto(s)
Adenomiosis/cirugía , Ultrasonido Enfocado de Alta Intensidad de Ablación , Microondas , Excreción Vaginal , Adenomiosis/diagnóstico por imagen , Adulto , Femenino , Humanos , Imagen por Resonancia Magnética , Persona de Mediana Edad , Resultado del Tratamiento , Ultrasonografía , Útero/diagnóstico por imagen , Útero/cirugíaRESUMEN
A total of 142 premenopausal women with symptomatic adenomyosis underwent ultrasound (US)-guided percutaneous microwave ablation (PMWA) at the Chinese PLA General Hospital. This study aimed to evaluate changes in serum pituitary, gonadal hormone and cancer antigen 125 (CA125) levels after US-guided PMWA. Therefore, estradiol (E2), follicle-stimulating hormone (FSH), prolactin (PRL) and CA125 levels were evaluated before ablation and at 3, 6, 9 and 12 months after ablation. No significant differences were observed in the E2 and FSH levels pre-ablation and during follow-up (E2: p=0.933, p=0.987, p=0.106, p=0.936; FSH: p=0.552, p=0.295, p=0.414, p=0.760). The mean absolute values of serum CA125 and PRL were significantly decreased at 3, 6, 9 and 12 months after ablation (CA125: p<0.001, p<0.001, p<0.001, p=0.003; PRL: p<0.001, p<0.001, p<0.001, p<0.001). A significant correlation between changes in CA125 levels and uterine volume was found (p<0.001). No evidence of a decline in ovarian function was observed after US-guided PMWA.
Asunto(s)
Adenomiosis/fisiopatología , Adenomiosis/terapia , Microondas , Ovario/fisiopatología , Ultrasonido , Adenomiosis/sangre , Adulto , Antígeno Ca-125/sangre , Femenino , Humanos , Proteínas de la Membrana/sangre , Persona de Mediana Edad , Resultado del TratamientoRESUMEN
OBJECTIVE: To study the prognosis of fibroid after ultrasound-guidance percutaneous microwave ablation (PMAUF). METHODS: From Mar. 2007 to Jul.2010 forty uterine fibroids in forty patients with symptoms which were diagnosed in our hospital accepted PMAUF. One day after treatment blood supply within the fibroid was evaluated, by enhanced MRI. The size of fibroid was measured by ultrasonography in one year with 3 months interval, the monthly menstrual of patient was followed and the mass discharge through vagina were collected for pathological examination. RESULTS: Among the 40 fibroid nodules, 22 are intramural fibroids, 15 subserosal fibroids and 3 submucosal fibroids. The baseline mean diameter of the fibroids ranged from (3.7 to 9.0) cm, with an average of (6.4 ± 1.5) cm. The mean volume ranged from (14.6 - 341.1) cm(3), with an average of (140.1 ± 87.4) cm(3). Three months after treatment, the anechoic zone was observed within the ablated nodules and disappeared in six to seven months. the echo of ablated zone keep higher than the surrounding tissue, whereas the size of fibroid shrank significantly. Meat tissue was discharged from vagina in 8 patients (2 cases of submucosal fibroids, 6 cases intramural fibroids) in the period of menstrual in 1 - 8 months after ablation. The largest dimension of the discharge was 2.1 cm. Pathological examination confirmed the discharges as necrotic fibroid. The patients with subserosal fibroid had no discharge of necrotic tissue. The fibroid shrink rate was higher in the patients with vaginal discharges than that without vaginal discharges (P < 0.01). CONCLUSIONS: After PMAUF necrotic tissue of submucosal and intramural fibroids can be discharged through vagina, liquefaction in the center of subserosal and intramural fibroids may occur and be absorbed gradually, that may be the main reasons for fibroids reduced significantly or disappearance.