Background The incidence of inborn errors of metabolism varies widely across countries. Very few studies have analyzed the incidence of these disorders in Mainland China. We aimed to estimate the overall and disease-specific incidences of inborn errors of metabolism in Chinese newborns and investigate the geographical distribution of these disorders. Methods A national cross-sectional survey was conducted to investigate newborn inborn errors of metabolism screening by tandem mass spectroscopy in Mainland China between 2016 and 2017. A total of 246 newborn screening centers were surveyed using a standardized questionnaire. We examined the cumulative and disease-specific incidences of inborn errors of metabolism in Mainland China as a whole and in different geographical locations. Results Over 7 million newborns were screened and 2747 were diagnosed with inborn errors of metabolism, yielding an overall incidence of 38.69 per 100,000 births (95% confidence interval: 37.27–40.17). The most common disorders were amino acid disorders (17.14 per 100,000 births, 95% confidence interval: 16.21–18.13), followed by organic acid disorders (12.39 per 100,000 births, 95% confidence interval: 11.60–13.24) and fatty acid oxidation disorders (9.16 per 100,000 births, 95% confidence interval: 8.48–9.89). The overall and disease-specific incidence rates differed significantly across geographical locations (P < 0.001). Conclusions The overall incidence of inborn errors of metabolism in Chinese newborns is relatively high. It is urgent to establish the recommended uniform screening panel for inborn errors of metabolism to guide the national and regional tandem mass spectroscopy newborn screening programs.
Gene therapy is becoming an important treatment modality for gravely ill patients, and today's medical students and postgraduates are both potential consumers and future providers of gene therapy. Therefore, their attitudes and concerns about gene therapy may directly influence its long-term development and implementation in the clinic. We performed a cross-sectional survey of medical students and postgraduates at West China Medical School of Sichuan University. A custom-designed questionnaire was distributed to 600 students, and 579 were valid (96.98% response). Most respondents (84.46%) indicated little prior knowledge about gene therapy. The proportion of respondents considering gene therapy as acceptable ranged from 63.73% for serious illness to 17.72% for genetic enhancement. Adverse side effects were the most frequent concern among respondents when asked to imagine that they would receive gene therapy to treat a severe brain-related illness. These results suggest that medical students in China consider gene therapy's acceptability to be rather low, and are most concerned about its adverse side effects.
Background Tetrahydrobiopterin deficiency (BH4D), a less common form of hyperphenylalaninemia (HPA), can lead to severe developmental retardation if untreated. Little has been reported on the prevalence of BH4D among live births worldwide. This study examined its prevalence across China and between geographical areas within the country. Methods We analyzed data from the Chinese national screening program for HPA in newborns between 2013 and 2019. BH4D prevalence was examined by province, region and the entire country. Provincial-level prevalence was estimated from the number of confirmed BH4D cases and screened newborns, after adjusting for HPA-positive recall rate. Regional- and national-level prevalences were estimated by summing provincial-level prevalences after weighting them by the number of live births. A Poisson distribution was assumed in order to calculate 95% confidence intervals (CIs) for prevalence. Results Among 107,078,115 newborns screened for HPA in China, 380 with BH4D were identified, corresponding to a total prevalence of 3.8 per 1,000,000 live births. Prevalence was higher in eastern regions (5.9 per 1,000,000) and northern regions (4.1 per 1,000,000) of China than in southern regions (1.6 per 1,000,000) or northwestern regions (1.7 per 1,000,000). Across the entire country, 3.9% cases of HPA were diagnosed as BH4D, and this proportion reached as high as 15.1% in the southern part of the country. Conclusions These first insights into BH4D prevalence across China suggest slightly higher prevalence than in other countries, and it varies substantially by region. More attention should be paid to early diagnosis and timely treatment of BH4D.
BackgroundEpidemiology in injury-related mortality among children younger than 5 years was unreported in China recently.MethodsData were obtained from China’s Under 5 Child Mortality Surveillance System (U5CMSS) in 2009-2016. Injury-related mortality rates were calculated by residence, age-group, gender and major injury type (drowning, traffic injuries, suffocation, poisoning, falls). The average annual decline rate (AADR) was calculated based on the annual mortality rates by Poisson regression and the relative risk (RR) between urban and rural residence was examined based on the rates of two years for each time point by Cochran-Mantel-Haenszel method.ResultsU5CMSS contained 6503 injury-related deaths of children younger than 5 years during the study period, of which 58.6% were male, 86.0% occurred in rural areas, 65.7% were children aged 12–59 months. Deaths were mainly attributed to suffocation (34.3%), drowning (29.6%), traffic injuries (17.7%), falls (7.2%) or poisoning (4.7%). The injury-related mortality rate dropped from 274.7 to 189.2 per 100 000 live births from 2009 to 2016, giving an AADR of 4.53% (95% CI 3.50% to 5.55%). During 2009–2016, the injury-related mortality rate in rural area was higher than that in urban area, the adjusted RRs (aRRs) in infants and children aged 12–59 months were 3.32–6.04 and 4.31–5.49, respectively.ConclusionThe rate of injury-related deaths in children younger than 5 years has decreased in China, but it remains high and strong urban–rural disparities still exist. Public health programmes and policy interventions should focus particularly on suffocation among infants and on drowning and traffic injuries among children aged 12–59 months, especially in rural areas.
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