Supplementary Material for: Long-term efficacy of ultrasound-guided percutaneous transluminal angioplasty for arteriovenous fistula outflow stenosis caused by venous valve

Introduction: Venous valve–related stenosis (VVRS) is an uncommon type of failure of arteriovenous fistula (AVF) among patients with end-stage renal disease (ESRD). There is a paucity of data on the long-term efficacy of ultrasound-guided percutaneous transluminal angioplasty (PTA) for VVRS. Methods: ESRD patients who underwent PTA because of VVRS between January 2017 and December 2021 at the First Affiliated Hospital of Chongqing Medical University were enrolled. Patients were classified into three cohorts (cohort1, VVRS located within 3 cm of the vein adjacent to the anastomosis; cohort2, VVRS located over 3 cm away from the anastomosis; cohort3, multiple stenoses). The patency rates were assessed by the Kaplan-Meier method and compared using the log-rank test. Univariate and multivariate Cox analyses were performed to identify the risk factors. Results: A total of 292 patients were enrolled, including 125 (42.8%), 111 (38.0%), and 56 (19.2%) patients in cohort1, cohort2 and cohort3, respectively. The median follow-up was 34.8 months. The 6-month, 1-year, 2-year, and 3-year primary patency rates were 86.0%, 69.4%, 47.5%, and 35.3%, respectively. The secondary patency rates were 94.5%, 89.4%, 75.5%, and 65.3%, respectively. Cohort1 showed a relatively better primary patency compared to cohort2 and cohort3. The secondary patency rates were comparable in the three cohorts. Duration of dialysis and VVRS type were potential factors associated with primary patency. Conclusions: This study showed acceptable long-term primary and secondary patency rates after PTA for VVRS in ESRD patients, especially for those with VVRS located within 3 cm of the vein adjacent to the anastomosis

Supplementary Material for: Identifying genetic factors of polycystic ovary syndrome in women with epilepsy: a whole-genome sequencing study

Introduction: Women with epilepsy (WWE) are more likely to develop reproductive endocrine disorders, especially polycystic ovary syndrome (PCOS). This study aimed to explore the genetic factors of PCOS in WWE in hope of improving individual precision diagnosis and treatment. Methods: WWE registered at West China Hospital between January 2021 and October 2021 were enrolled in this study. Demographic and epilepsy-related characteristics were recorded and blood samples were collected for hormones, glucose metabolism testing and whole-genome sequencing. Results: After sample sequencing, quality control and variants selection, association analyses were performed. Pathway analysis was performed to identify involved biological pathways. The overall and PCOS ‘burden score’ of each individual were calculated to count the deleterious variants. A total of 95 WWE was included in this study and 19 patients were diagnosed with PCOS. WWE with PCOS showed a significantly different hormone profiles and a tendency of impaired glucose metabolism. The mostly associated genes were ZFYVE28, COL19A1, SIK3, ANKK1, PPIG, and REPIN1. The top 3 canonical pathways are adipogenesis pathway, Epoxysqualene Biosynthesis Signaling, and Glutamate Degradation Signaling. The most significant common variant was rs11914038 located in gene CELSR1 and rs651748 located in gene ZBTB16. In HGC prioritizations, ITGA9, PNPLA2, and DAB2 are the top 3 genes having the shortest distance to known PCOS genes. Conclusion: Genetic factors involved in the abnormal regulation of glucose and insulin metabolism are likely to be associated with the comorbidity of PCOS in WWE. Interventions targeting these processes should be given more priority in clinical practice

Supplementary Material for: Identifying genetic factors of polycystic ovary syndrome in women with epilepsy: a whole-genome sequencing study

Introduction: Women with epilepsy (WWE) are more likely to develop reproductive endocrine disorders, especially polycystic ovary syndrome (PCOS). This study aimed to explore the genetic factors of PCOS in WWE in hope of improving individual precision diagnosis and treatment. Methods: WWE registered at West China Hospital between January 2021 and October 2021 were enrolled in this study. Demographic and epilepsy-related characteristics were recorded and blood samples were collected for hormones, glucose metabolism testing and whole-genome sequencing. Results: After sample sequencing, quality control and variants selection, association analyses were performed. Pathway analysis was performed to identify involved biological pathways. The overall and PCOS ‘burden score’ of each individual were calculated to count the deleterious variants. A total of 95 WWE was included in this study and 19 patients were diagnosed with PCOS. WWE with PCOS showed a significantly different hormone profiles and a tendency of impaired glucose metabolism. The mostly associated genes were ZFYVE28, COL19A1, SIK3, ANKK1, PPIG, and REPIN1. The top 3 canonical pathways are adipogenesis pathway, Epoxysqualene Biosynthesis Signaling, and Glutamate Degradation Signaling. The most significant common variant was rs11914038 located in gene CELSR1 and rs651748 located in gene ZBTB16. In HGC prioritizations, ITGA9, PNPLA2, and DAB2 are the top 3 genes having the shortest distance to known PCOS genes. Conclusion: Genetic factors involved in the abnormal regulation of glucose and insulin metabolism are likely to be associated with the comorbidity of PCOS in WWE. Interventions targeting these processes should be given more priority in clinical practice

Supplementary Material for: Identifying genetic factors of polycystic ovary syndrome in women with epilepsy: a whole-genome sequencing study

Introduction: Women with epilepsy (WWE) are more likely to develop reproductive endocrine disorders, especially polycystic ovary syndrome (PCOS). This study aimed to explore the genetic factors of PCOS in WWE in hope of improving individual precision diagnosis and treatment. Methods: WWE registered at West China Hospital between January 2021 and October 2021 were enrolled in this study. Demographic and epilepsy-related characteristics were recorded and blood samples were collected for hormones, glucose metabolism testing and whole-genome sequencing. Results: After sample sequencing, quality control and variants selection, association analyses were performed. Pathway analysis was performed to identify involved biological pathways. The overall and PCOS ‘burden score’ of each individual were calculated to count the deleterious variants. A total of 95 WWE was included in this study and 19 patients were diagnosed with PCOS. WWE with PCOS showed a significantly different hormone profiles and a tendency of impaired glucose metabolism. The mostly associated genes were ZFYVE28, COL19A1, SIK3, ANKK1, PPIG, and REPIN1. The top 3 canonical pathways are adipogenesis pathway, Epoxysqualene Biosynthesis Signaling, and Glutamate Degradation Signaling. The most significant common variant was rs11914038 located in gene CELSR1 and rs651748 located in gene ZBTB16. In HGC prioritizations, ITGA9, PNPLA2, and DAB2 are the top 3 genes having the shortest distance to known PCOS genes. Conclusion: Genetic factors involved in the abnormal regulation of glucose and insulin metabolism are likely to be associated with the comorbidity of PCOS in WWE. Interventions targeting these processes should be given more priority in clinical practice