Clinical application of whole exome sequencing in monogenic hereditary disorders in critically ill newborns / 中国当代儿科杂志

OBJECTIVE@#To explore the value and significance of the clinical application of whole exome sequencing (WES) in monogenic hereditary disorders in critically ill newborns.@*METHODS@#The critically ill newborns in the neonatal intensive care unit with suspected hereditary diseases or unclear clinical diagnosis from June 2016 to December 2018 were enrolled. The whole blood samples from both newborns and parents were collected for WES. The detected genetic mutations were classified, the mutations associated with clinical phenotypes were searched for, and Sanger sequencing was performed to verify the mutations.@*RESULTS@#A total of 45 newborns were enrolled, including 22 males and 23 females, and the median age of onset was 2.0 days. Of the 45 newborns, 12 (27%) were confirmed with monogenic hereditary disorders by molecular diagnostics, and the median age at diagnosis was 31.5 days. Of the 12 newborns with monogenic hereditary disorders, 5 (42%) were partially associated with clinical phenotypes but confirmed with monogenic hereditary disorders by additional information supplement and analysis. The improvement rate of newborns with monogenic hereditary disorders was 67% (8/12) after treatment.@*CONCLUSIONS@#WES technology is a powerful tool for finding genetic mutations in monogenic hereditary disorders in critically ill newborns and can play a crucial role in clinical decision-making. However, a comprehensive interpretation of sequence data requires physicians to take the clinical phenotypes and the results of WES into consideration simultaneously.

A clinical study of growth and metabolism of small for gestational age infants / 中国当代儿科杂志

OBJECTIVE@#To study the differences in growth and metabolism between small for gestational age (SGA) infants and appropriate for gestational age (AGA) infants.@*METHODS@#A total of 1 370 preterm infants were enrolled in this study. According to the association between gestational age and birth weight, they were divided into SGA group with 675 infants and AGA group with 695 infants. The two groups were compared in terms of general conditions, physical growth and blood biochemical parameters.@*RESULTS@#The SGA group had a significantly longer length of hospital stay than the AGA group (P<0.05). Compared with the AGA group, the SGA group had significantly lower body weight, body weight Z score, and body length at discharge and significantly higher incidence rate of extrauterine growth retardation and growth rate of head circumference (P<0.05). Compared with the AGA group, the SGA group had significantly longer time to full enteral nutrition and duration of parenteral nutrition (P<0.05). Compared with the AGA group, the SGA group had significantly higher levels of albumin, prealbumin, and serum phosphorus on admission and total bile acid before discharge, as well as a significantly lower albumin level before discharge (P<0.05). The incidence rates of asphyxia, neonatal respiratory distress syndrome, myocardial damage, feeding intolerance, pneumonia, sepsis, hypoglycemia and hypothyroxinemia in the SGA group were significantly higher than in the AGA group (P<0.05).@*CONCLUSIONS@#Compared with AGA infants, SGA infants have significantly delayed physical development during hospitalization and significantly higher incidence rates of extrauterine growth retardation and related complications.

Levels of blood free carnitine in preterm infants with different gestational ages and birth weights / 中国当代儿科杂志

OBJECTIVE@#To examine blood concentrations of free carnitine (FC) in preterm infants with different gestational ages (GA) and birth weights (BW).@*METHODS@#A total of 3 368 preterm infants were enrolled as subjects. According to GA, they were divided into extremely preterm birth (EPTB) group (GA <28 weeks; n=39), very preterm birth (VPTB) group (28 ≤GA <32 weeks; n=405), moderately preterm birth (MPTB) group (32 ≤GA <34 weeks; n=507), and late preterm birth (LPTB) group (34 ≤GA <37 weeks; n=2 417); according to BW, they were divided into extremely low birth weight (ELBW) group (BW <1 000 g; n=36), very low birth weight (VLBW) group (1 000 g ≤BW <1 500 g; n=387), low birth weight (LBW) group (1 500 g ≤BW <2 500 g; n=1 873), and normal birth weight (NBW) group (2 500 g ≤ BW <4 000 g; n=1 072). Blood concentrations of FC were measured between 72 hours and 7 days after birth.@*RESULTS@#The EPTB and VPTB groups had significantly higher FC concentrations than the MPTB and LPTB groups (P<0.05), and the MPTB group had significantly higher FC concentrations than the LPTB group (P<0.05). The lower limit of the 95% medical reference range of FC increased with the reduction in GA. The ELBW and VLBW groups had significantly higher FC concentrations than the LBW and NBW groups (P<0.05). The LBW group had significantly higher FC concentrations than the NBW group (P<0.05). The lower limit of the 95% medical reference range of FC increased with the reduction in BW.@*CONCLUSIONS@#There is a significant increase in blood FC concentrations in very/extremely preterm infants and very/extremely low birth weight infants, and tend to decrease with the increases in GA and BW.

The Determination of Cut-off Value of TSH during Screening of Congenital Hypothyroidism in 6 Prefecture/City of Yunnan Province / 昆明医科大学学报

Objective To explore the positive cut-off value in neonatal screening for congenital hypothyroidism(CH)in the center of Neonatal Screening , so as to improve screening efficiency and reduce false positive rate. Methods Heel blood samples were taken from the newborns born after72 hours,dropped in special S&S903 filter paper and delivered to the neonatal screening center within the prescribed period of time.DELFIA was applied to detect the concentration of thyroid-stimulating hormone(TSH).Result Totally 529918 blood sample were screened from the 2012 to the 2016.Among them 529645 newborns were normal, 203 neonates were diagnosed with CH, 70 with high TSH hyperlipidemia, the total detection rate was 1:1941, and the incidence of CH was 1:2610. According to the results, the cut-off value of the screening of CH in the center of Neonatal Screening was 9.0 mIU/L, the sensitivity was 100％and specifility was 98.38％, misdiagnosis rate was 0％. Conclusion The cut-off value of CH was 9.0 mIU/L in the center of Neonatal Screening ,which is suitable for the people in 6 Prefecture/City of Yunnan Province , and also provides the basis for neonatal scree of CH in the future.

Effect of prone positioning on respiratory function in very preterm infants undergoing mechanical ventilation / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To explore the effect of prone positioning on respiratory function in very preterm infants undergoing mechanical ventilation.</p><p><b>METHODS</b>A total of 83 very preterm infants treated with mechanical ventilation were enrolled in the study and were randomly assigned to supine group and prone group. Four infants withdrew from the study and 79 infants completed treatment and observation (37 in the supine group and 42 in the prone group). Infants in both groups were mechanically ventilated in a volume assist-control mode. Infants in the prone group were ventilated in the supine position for 4 hours and in the prone position for 2 hours. Ventilator parameters, arterial blood gas analysis, and vital signs were recorded before grouping, every 6 hours in the supine group, and every hour after conversion into the prone position in the prone group, respectively.</p><p><b>RESULTS</b>Fraction of inspired oxygen (FiO), peak inspiratory pressure, mean inspiratory pressure, and duration of ventilation were significantly lower in the prone group than in the supine group (P<0.05); there were no significant differences in tidal volume or positive end-expiratory pressure between the two groups (P>0.05). The prone group had a significantly higher PO/FiO ratio but significantly lower oxygenation index and respiratory rate than the supine group (P<0.05). There were no significant differences in arterial oxygen tension, pH, base excess, heart rate, or mean blood pressure between the two groups (P>0.05).</p><p><b>CONCLUSIONS</b>Alternating ventilation between the prone position and supine position can improve oxygenation function, decrease the fraction of inspired oxygen, and shorten the duration of mechanical ventilation in very preterm infants undergoing mechanical ventilation.</p>

Nutrition status of premature infants in the neonatal intensive care unit and risk factors of extrauterine growth retardation / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the nutrition status of premature infants in the neonatal intensive care unit (NICU) and risk factors of extrauterine growth retardation (EUGR).</p><p><b>METHODS</b>The clinical data of 110 premature infants who were admitted to the NICU from August 2007 to September 2008 were retrospectively reviewed. The possible factors influencing the nutrition status were analyzed.</p><p><b>RESULTS</b>The incidence of EUGR was 53.6% (59/110), 31.8% (35/110) and 10.0% (11/110) by weight, length and head circumference respectively among the premature infants. The risk factors of EUGR included: small-for-gestational-age (SGA), low birth weight, low speed of weight gain during hospitalization, large extent of physiological weight loss, long time to reach oral calorie goal, and maternal complications.</p><p><b>CONCLUSIONS</b>The nutrition status and physical development are not desirable in premature infants hospitalized in the NICU. Therefore, reasonable nutritional support and proactive control of risk factors are important strategies to improve the perinatal nutrition and long-term prognosis.</p>