Epidemiological characteristics and clinical manifestations of pediatric patients with COVID-19 in China: A multicenter retrospective study

Importance:The Coronavirus disease 2019(COVID-19)global pandemic poses a considerable challenge for pediatricians.Objective:This study aimed to identify the epidemiological characteristics and clinical features of pediatric patients with COVID-19 in China.Methods:This multicenter retrospective study included pediatric patients from 46 hospitals in China,covering 12 provinces and two municipalities.Epidemiological,demographic,clinical,laboratory,treatment,and outcome data were analyzed.Results:In total,211 pediatric patients with COVID-19 were included in this study.The median age was 7.0 years(range:22 days to 18 years).Approximately 16.3%of the patients exhibited asymptomatic infections,23.0%had upper respiratory tract infections,and 60.7%had pneumonia,including two with severe pneumonia and one with critical illness.Approximately 78.7%of the pediatric patients occurred in familial clusters.The most three common symptoms or signs at onset in children with COVID-19 were fever(54.5%),cough(49.3%),and pharyngeal congestion(20.8%).Only 17.6%of the patients presented with decreased lymphocyte count,whereas 13.6%had increased lymphocyte count.Among the patients with pneumonia who exhibited abnormal chest computed tomography findings,18.2%(23/127)of the patients had no other symptoms.Generally,the chest radiographs showed abnormalities that affected both lungs(49.6%);ground-glass opacity(47.2%)was the most common manifestation.The cure and improvement rates were 86.7%(183/211)and 13.3%(28/211),respectively.Only one patient with an underlying condition received invasive mechanical ventilation;none of the patients died.Interpretation:Similar to adults,children of all age groups are susceptible to COVID-19.Fortunately,most pediatric patients have mild symptoms or remain asymptomatic,despite the high incidence of pneumonia.Decreased proportions of white blood cells and lymphocytes are less frequent in children than in adults.

A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China

Background Newborn screening(NBS)is an important and successful public health program that helps improve the long-term clinical outcomes of newborns by providing early diagnosis and treatment of certain inborn diseases.The develop-ment of next-generation sequencing(NGS)technology provides new opportunities to expand current newborn screening methodologies.Methods We designed a a newborn genetic screening(NBGS)panel targeting 135 genes associated with 75 inborn disorders by multiplex PCR combined with NGS.With this panel,a large-scale,multicenter,prospective multidisease analysis was conducted on dried blood spot(DBS)profiles from 21,442 neonates nationwide.Results We presented the positive detection rate and carrier frequency of diseases and related variants in different regions;and 168(0.78%)positive cases were detected.Glucose-6-Phosphate Dehydrogenase deficiency(G6PDD)and phenylketonuria(PKU)had higher prevalence rates,which were significantly different in different regions.The positive detection of G6PD variants was quite common in south China,whereas PAH variants were most commonly identified in north China.In addi-tion,NBGS identified 3 cases with DUOX2 variants and one with SLC25A13 variants,which were normal in conventional NBS,but were confirmed later as abnormal in repeated biochemical testing after recall.Eighty percent of high-frequency gene carriers and 60%of high-frequency variant carriers had obvious regional differences.On the premise that there was no significant difference in birth weight and gestational age,the biochemical indicators of SLC22A5 c.1400C>G and ACADSB c.1165A>G carriers were significantly different from those of non-carriers.Conclusions We demonstrated that NBGS is an effective strategy to identify neonates affected with treatable diseases as a supplement to current NBS methods.Our data also showed that the prevalence of diseases has significant regional charac-teristics,which provides a theoretical basis for screening diseases in different regions.

Potential Application of Anti-Müllerian Hormone in Polycystic Ovary Syndrome According to Chinese Classification Criteria:A Retrospective Analysis

Objective:Anti-Müllerian hormone(AMH)expression is elevated in patients with polycystic ovary syndrome(PCOS),however,its clinical significance is not clear.Owing to the strong correlation between AMH and polycystic ovarian morphology(PCOM),some studies believe that AMH alone can be used to diagnose PCOS.The aim of this study was to explore whether AMH can be used to diagnose PCOS and to differentiate the various PCOS subtypes.Methods:This was a retrospective study of 503 patients with PCOS.Patients were divided into eight subtypes based on the presence/absence of hyperandrogenemia(HA),insulin resistance(IR),or obesity(OB).The expression characteristics of AMH in each subtype were analyzed.Due to the small number of patients with subtypes 7 and 8,only patients with subtypes 1-6 were included in the analysis.Results:AMH showed a good positive correlation with PCOM(P=0.000)and negative correlations with OB(P=0.000)and IR(P=0.003).The free testosterone index showed no correlation with AMH(P=0.803).The percentages of patients with each subtype(excluding subtypes 7-8)and their respective AMH levels were as follows:Type 1(HA+NIR+OB)4.77% and 9.12 ng/mL;Type 2(HA+IR+NOB)20.68% and 10.34 ng/mL;Type 3(HA+NIR+NOB)23.66% and 9.47 ng/mL;Type 4(HA+IR+OB)30.82% and 8.32 ng/mL;Type 5(NHA+NIR+NOB)11.73% and 10.0 ng/mL;and Type 6(NHA+IR+NOB)6.16% and 9.76 ng/mL.The diagnostic rates of AMH(>8.09 ng/mL)and ultrasound for PCOM were 60.10% and 85.60% ,respectively,suggesting that AMH did not completely predict PCOM.Conclusions:High AMH levels can be used to evaluate the incidence trend of PCOS.However,due to clinical heterogeneity,accurately evaluating the severity of PCOS and identifying the subtype of PCOS in Chinese patients are difficult.Individualized treatment should be administered based on accurate clinical subtypes and other clinical characteristics.