Disease spectrum and pathogenic genes of inherited metabolic disorder in Gansu Province of China / 中国当代儿科杂志

OBJECTIVES@#To investigate the disease spectrum and pathogenic genes of inherited metabolic disorder (IMD) among neonates in Gansu Province of China.@*METHODS@#A retrospective analysis was conducted on the tandem mass spectrometry data of 286 682 neonates who received IMD screening in Gansu Provincial Maternal and Child Health Hospital from January 2018 to December 2021. A genetic analysis was conducted on the neonates with positive results in tandem mass spectrometry during primary screening and reexamination.@*RESULTS@#A total of 23 types of IMD caused by 28 pathogenic genes were found in the 286 682 neonates, and the overall prevalence rate of IMD was 0.63 (1/1 593), among which phenylketonuria showed the highest prevalence rate of 0.32 (1/3 083), followed by methylmalonic acidemia (0.11, 1/8 959) and tetrahydrobiopterin deficiency (0.06, 1/15 927). In this study, 166 variants were identified in the 28 pathogenic genes, with 13 novel variants found in 9 genes. According to American College of Medical Genetics and Genomics guidelines, 5 novel variants were classified as pathogenic variants, 7 were classified as likely pathogenic variants, and 1 was classified as the variant of uncertain significance.@*CONCLUSIONS@#This study enriches the database of pathogenic gene variants for IMD and provides basic data for establishing an accurate screening and diagnosis system for IMD in this region.

Establishment and application of suitable technology for screening, diagnosis and evaluation of neonatal congenital heart disease in Hainan Province / 中国热带医学

@#Abstract： Objective　To establish a screening-diagnosis-evaluation system of neonatal congenital heart disease (CHD) suitable for Hainan Province based on the application of percutaneous blood oxygen saturation measurement and cardiac auscultation screening, and to provide a basis for further promotion of the evaluation effect. Methods　Screening agencies (all midwifery institutions) used the "double index method" to screen newborns for congenital heart disease. Those who were screened positive for any index were transferred to diagnostic institutions (the people's hospitals of all cities and counties and some tertiary hospitals) for echocardiography examination within 1 week. Those with abnormal results were transferred to the treatment institution (two tertiary hospitals) for reconfirmation and evaluation. All data were managed online. Results　In this study, 96 913 newborns born in midwifery institutions in 19 cities and counties were screened, with a response rate of 99.44%. The ratio of male infants (50 836) to female infants (46 077) was 1.10∶1. A total of 2 284 positive patients were screened by dual index method, and ultrasound diagnosis was performed, with the rate of cardiac ultrasonography of 98.07% (2 240/2 284) and a high response rate. A total of 238 cases of congenital heart disease were diagnosed (incidence rate of 0.25%), with the top three main types were ventricular septal defect, atrial septal defect, and patent ductus arteriosus. The sensitivity (88.24%) and Youden index (0.86) of dual-indicator screening for CHD detection were significantly higher than the other separate indicators. Through Kappa consistency test analysis, the consistency of dual-indicator screening with simple heart murmur screening results was excellent, with a Kappa coefficient value of 0.835 (>0.75); the consistency of dual-indicator screening and simple POX screening results was good, with a Kappa coefficient value of 0.429 (between 0.40-0.75), and the differences were statistically significant (P<0.001). By the end of the study, 136 children had undergone open-chest/occlusion surgery, with good postoperative recovery, and the rest were followed up. Conclusions　The neonatal CHD screening-diagnosis-assessment technology system established in this study, with close connections between various blocks, high screening response rate and echocardiography examination rate, is beneficial for the early diagnosis and treatment of CHD children, and has certain application value in institutions at all levels in Hainan Province, and is worth further promotion.

Harnessing mHealth to improve the diabetes screening and diagnosis rate in rural Indian settings: a learning from health systems initiative

Background: Diabetes forms huge burden of non-communicable diseases that is affecting health care systems in India. India has large number undiagnosed and undetected cases. mHealth initiatives are cost effective, quick and less resource intensive technology assisted initiatives which help to strengthen the health system. High mobile penetration and availability of cheap and high-speed data network across India has been conducive to implement mHealth initiatives in Indian health system. We present our experience in using mHealth initiative to improve the diabetes screening and diagnosis in rural Indian settings.Methods: The study is a descriptive analysis of all the tasks undertaken as part of “Disease free Village” Initiative of our organization. The study data is operational data from our organizational health information management systems. The study is divided into three phase. Phase 1, was dedicated to enrolling entire village population using android smartphone and ODK collect application; phase 2 used clinical decision support system for screening of high risk individuals and phase 3 used traditional door to door campaign to motivating the high risk individuals to get their fast and post prandial blood glucose levels checked at health care facility.Results: Phase 1 was to set a baseline, with 3624 base population, 2651 was target adult population. Rapid screening in phase 2, screened 2204 (83.14%). Out of 2204 screened cases 1307 were high risk cases. 1307 high risk cases were followed in Phase 3, and blood glucose screening was carried out 1156 (88.44%) high and moderate risk individuals out of 1307 (100%).Conclusions: We concluded that the mHealth initiatives for screening and diagnosis of diabetes in rural India, combined with traditional techniques could help to improve screening and diagnosis rate and help to reduce the hidden burden of disease.