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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.
Subject(s)
Female , Humans , Infant, Newborn , Male , Critical Illness , Exome , Mutation , Phenotype , Exome SequencingABSTRACT
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.
Subject(s)
Female , Humans , Infant , Infant, Newborn , Pregnancy , Birth Weight , Carnitine , Gestational Age , Infant, Extremely Low Birth Weight , Infant, Premature , Infant, Very Low Birth WeightABSTRACT
OBJECTIVE@#To analyze the efficacy of continuous prevention injury combined with interference of pain on enhomcement of physical safety inside and outside hospital and pain control in patients with multiple myeloma (MM).@*METHODS@#Two hundred and thirty-three MM patients admitted in our hospital from January 2016 to December 2017 were divided into 2 group according to odd-even number of hospitalization: routine nursing group (odd number) and combined nursing group (ever number). 119 patients in routine nursing group were given routine nursing, 114 patients in combined nursing group were given combined nursing consisting of continuous prevention of injury combined with interference of pain. The safety event incidence, pain relief, life quality and mental status of patients in 2 groups were compared.@*RESULTS@#The incidence of accidental injuries and disease damages in combined nursing group was significantly lower than that in routine nursing group (3.51% and 4.29% vs 11.76% and 12.61%) (P＜0.05). The numeric rating scale (NRS) pain score on the day of hospitalization was not significantly different between 2 groups (P＞0.05), after interference, the NRS score and the six-point behavior score in combined nursing group were superior to those in routine nursing group (P＜0.05). Before interference, the life quality scores were not significantly different between 2 groups (P＞0.05), after interference, the some indicators of life quality in 2 groups were impromoved, the scores of physical function, role function, coguitive function, emotional function, and social function of patients in combined nursing group were superior to those in routine nursing group, the scores related with fatigue, nausea and vomiting, pain, loss of appetite, insomnia and overall health status of patients in combined nursing group were superior to those in routine nursing group (P＜0.05). Before interference, there were no significant difference in scores of HAMA scale and HAMD scale between 2 groups (P＞0.05), after interference, the scores of HAMA scale and HAMD scale in 2 groups both decreased, but the scores of above-mentioned scales in combined nursing group was lower than those in routine nursing group (P＜0.05).@*CONCLUSION@#The Continuous prevention of injury combined with interference of pain shows the better safety of inside and outside hospital and good efficacy of pain control for MM patients.
Subject(s)
Humans , Cancer Pain , Multiple Myeloma , Nausea , Quality of Life , VomitingABSTRACT
<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>
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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.
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Stroke is one of the most common diseases among middle and senior - aged people,and depressive disorder,which hinders severely recovery and prognosis,is one of the complications of stroke.This paper analyzes the efficiency of social intervention mode on patients with post - stroke depressive disorder,and comes up with the conclusion that social intervention mode can not only help to ameliorate the occurrence of post - stroke depressive disorder,but also promote the recovery of patients' nervous function.Therefore,the social intervention mode can be regarded as an effective means for medical treatment.