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Aims: We evaluated the association between type 2 diabetes and gout by a retrospective cohort study., Methods: Data of 17,259 male and 18,318 female patients with type 2 diabetes were retrieved for the 1998-2010 period. These patients were matched to a comparison group (n=34,518 and n=36,636, respectively) in a 1:2 ratio by age and region., Results: We found that patients with type 2 diabetes after adjustment for hyperlipidemia and hypertension had a lower risk of incident gout than the matched population (incidence rate ratio, men: 0.39 [95% CI: 0.36-0.42]; women: 0.78 [0.72-0.84]). Specifically, type 2 diabetes alone without hyperlipidemia and hypertension was associated with a reduced risk of incident gout in men (adjusted relative risk [RR]: 0.29, 95% CI: 0.22-0.39), but not in women (0.86, 95% CI: 0.55-1.36). We found that insulin users with hyperlipidemia and hypertension associated with risk of incident gout and no sex-specific differences were noted (adjusted RR, men: 1.28 [95% CI: 1.11-1.48]; women: 1.32 [95% CI: 1.14-1.53]). Specifically, insulin users alone without hyperlipidemia and hypertension were not statistically significantly associated with gout risk (P≥.0954)., Conclusions: The results of this study indicated that hyperlipidemia and hypertension modified the association between type 2 diabetes and gout., (Copyright © 2020 Primary Care Diabetes Europe. Published by Elsevier Ltd. All rights reserved.)

Background & Aims: Tenofovir disoproxil fumarate (TDF) is the preferred treatment to prevent maternal transmission of HBV, owing to its efficacy and safety. However, data are lacking on the long-term safety outcomes in children following fetal exposure to TDF., Methods: Children participating in a prospective, multisite trial of maternal TDF treatment during late pregnancy were recruited for follow-up visits once a year. Growth parameters, serum biochemistry, HBV serology, and bone mineral density (BMD) by dual-energy x-ray absorptiometery scan were measured., Results: One hundred and twenty-eight children, 71 in the TDF and 57 in the control group, completed 255 follow-up visits at the age of 2 to 7 (median, 4.08) years. No differences in z-scores for weight-for-age (0.26 ± 0.90 vs. 0.22 ± 0.99, p = 0.481), z-scores for height-for-age (0.20 ± 1.02 vs. 0.25 ± 0.98, p = 0.812), and estimated glomerular filtration rate (169.12 ± 50.48 vs. 169.06 ± 34.46 ml/min/1.73m 2 , p = 0.479) were detected. After adjustment for age, sex and HBV status by multiple linear regression, children in the TDF and control group had comparable levels of serum calcium, phosphorus, bone-specific alkaline phosphatase, calcidiol and BMD of lumbar spines (0.55 ± 0.01 vs. 0.57 ± 0.01 g/cm 2 , p = 0.159) and left hip (0.56 ± 0.01 vs. 0.56 ± 0.01 g/cm 2 , p = 0.926)., Conclusions: Children of HBV-infected mothers who did or did not receive tenofovir disoproxil fumarate treatment during late pregnancy had comparable long-term growth, renal function, and bone development up to 6-7 years after delivery., Clinical Trial Number: NCT01312012 (ClinicalTrials.gov) LAY SUMMARY: Currently there are insufficient long-term safety data in children born to mothers who took antiviral agents during pregnancy to prevent mother-to-infant transmission of hepatitis B virus (HBV). In this study, we found that children of HBV-infected mothers who did or did not receive tenofovir disoproxil fumarate treatment during late pregnancy had comparable long-term growth, renal function, and bone development up to 6-7 years after delivery., Competing Interests: Conflict of interest The authors declare no conflicts of interest that pertain to this work. Please refer to the accompanying ICMJE disclosure forms for further details., (Copyright © 2020 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.)

Background and Aims: Familial hypercholesterolemia (FH) is an autosomal dominant disorder with paramount health impacts. However, less than 1% FH patients in Taiwan were formally diagnosed, partly due to the lack of reliable cost-effective genetic testing. We aimed at using a next-generation sequencing (NGS) platform as the clinical genetic testing method for FH., Methods: We designed probes to capture the whole LDLR gene and all coding sequences of APOB and PCSK9, and then sequenced with Illumina MiSeq platform (2 × 300 bps). The entire pipeline was tested on 13 DNA samples with known causative variants (including 3 large duplications and 2 large deletions). Then we enrolled a new cohort of 28 unrelated FH patients with Dutch Lipid Clinic Network score ≥5. Relatives were included in the cascade screening., Results: From the 13 DNA samples, we correctly identify all the variants, including big duplications and deletions. From the new cohort, we identified the causative variants in 21 of the 28 unrelated probands; five of them carrying a novel splice site variant c.1186+2T>G in LDLR. Among the family members, the concentration of LDL cholesterol was 7.82 ± 2.13 mmol/l in LDLR c.1186+2T>G carrier group (n = 26), and was significantly higher than 3.18 ± 1.36 mmol/l in the non-carrier group (n = 25)., Conclusions: This is the first capture-based NGS testing for FH to cover the whole LDLR genomic region, and therefore making reliable structural variation detection. This panel can comprehensively detect disease-causing variants in LDLR, APOB, and PCSK9 for FH patients., (Copyright © 2018. Published by Elsevier B.V.)

Objective: To explore the causal effect of time-varying z-BMI growth on early menarche using Mendelian randomisation (MR); to identify critical adiposity predictors of early menarche; to compare the effects of birthweight and time-varying z-BMI growth as mediators of the path from genes to early menarche using mediation analysis., Methods: We used data from the Taiwan Children Health Study with 21 obesity-related single-nucleotide polymorphisms (SNPs) to yield genetic (instrumental variable)IVs for adiposity. Children with available data on genotyping, birthweight, adiposity, and menarcheal age were included., Results: In MR analyses, results based on the time-varying z-BMI growth show more statistical power and capture more information of adiposity growth (p=0.01) than those based on single point z-BMI (p=0.02). Among adiposity measures, critical predictors of early menarche are fat free mass (RR=1.33, 95% CI 1.07-1.65) and waist/height ratio (RR=1.27, 95% CI 1.03-1.56). Other potential predictors of early menarche are sum of skinfold (RR=1.24, 95% CI 1.03-1.48) and total body fat (RR=1.20, 95% CI 1.05-1.38). In both one-mediation and multi-mediation analyses, time-varying z-BMI growth in the prepubertal years plays a crucial mediator in the pathway from the genes to early menarche., Conclusions: This study discovered that greater prepubertal adiposity growth is a crucial mediator in the path from genes to early menarche. For girls with genes positively associated with obesity; and/or of lower birthweight, a strategy to prevent childhood adiposity should be implemented in order to avoid early menarche development., (Copyright © 2018 Asia Oceania Association for the Study of Obesity. Published by Elsevier Ltd. All rights reserved.)

Objective: The aim of our study was to determine the relationship between age and the incidence of pre-eclampsia and eclampsia., Materials and Methods: We analyzed data collected by the National Health Insurance Bureau between 1998 and 2010. Data were obtained from the Taiwanese Department of Health website and the Department of Internal Affairs., Results: The incidence of pre-eclampsia increased significantly (from 0.87% to 1.21%), but the incidence of eclampsia did not change significantly (from 0.04% to 0.05%) between 1998 and 2010. The incidence of pre-eclampsia in the 20-24-year age group was 0.60 ± 0.09%. The relative risk of pre-eclampsia in the different age groups was as follows: aged <20 years, 1.02-fold (p = 1.0); 25-29 years, 1.35-fold (p = 0.041); 30-34 years, 1.79-fold (p < 0.001); 35-39 years, 2.99-fold (p < 0.001); and ≥40 years, 5.13-fold (p < 0.001). The incidence of eclampsia in the 20-24-year age group was 0.04 ± 0.01%. The incidence of eclampsia in only the ≥40-years age group significantly increased by 2.49-fold (p = 0.001)., Conclusion: The incidence of pre-eclampsia was correlated with maternal age. The incidence of pre-eclampsia was the lowest in the 20-24-year age group and soared in the >35-year age groups., (Copyright © 2015. Published by Elsevier B.V.)

Background: Patients with severe osteogenesis imperfecta (OI; MIM number 259420) suffer from low bone mass, fractures, and bone pain since birth, and have poor prognosis. This study assessed the outcome of patients with severe OI who were treated with cyclic pamidronate prior to the age of 1 year., Methods: The six patients, who had bone fractures either in utero or in their 1st month of life, were treated with cyclic pamidronate from a mean age of 2.8 months., Results: All the patients tolerated the infusion, except for having transient hypocalcemia at the first infusion. Decreases in irritability and improvements in feeding were observed 2-3 months after the first infusion. All patients showed a rapid increase in bone mineral density over the first 2 years. Fractures occurred at a rate of 0.6/year. At a mean age of 6.4 years, five patients with no interruption in treatment had normal ambulatory function, but they were short in height., Conclusion: Patients with neonatal OI can have a favorable outcome when treated with cyclic pamidronate infusions early in life., (Copyright © 2014. Published by Elsevier B.V.)

Cushing's disease is rare in children and adolescents. We report the clinical presentations of three children with Cushing's disease. All three exhibited the typical symptoms and signs of weight gain and growth retardation. Tw o also demonstrated personality changes, hypertension and hypokalemia, the last of these being rarely reported in patients with Cushing's disease. Lack of diurnal changes in serum cortisol levels was the most common biochemical finding. Serum cortisol levels were suppressed by low-dose dexamethasone in one patient, which is not typical for patients with Cushing's disease. Imaging studies are essential for localizing the tumor. Transsphenoidal surgery remains the treatment of choice, and pituitary irradiation should be considered for those patients whose tumors cannot be totally removed. Careful follow-up of these patients with awareness of the possibilities of relapse and the complications of hypopituitarism is indicated., (Copyright © 2010 Taiwan Pediatric Association. Published by Elsevier B.V. All rights reserved.)