Clinical study on screening carnitine absorption deficiency in neonates by tandem mass spectrometry / 中华实用儿科临床杂志

Objective@#To estimate the levels of free carnitine and acylcarnitine in neonates, and summarize the incidence and clinical characteristics of carnitine absorption deficiency in Xuzhou.@*Methods@#Between November 2015 and December 2017, 216 903 newborns were recruited with carnitine absorption deficiency screened via tandem mass spectrometry in Xuzhou.They were divided into different groups according to gestational age, birth body weight, blood collecting time and season, in which the group with gestational age <37 weeks was selected as the premature delivery group, and the group with gestational age 37-41+ 6 weeks as the normal gestational age group for gestational age analysis, while the group with the birth body mass <2 500 g was selected as low birth body mass group and the group with the birth body mass of 2 500-3 999 g as normal birth body mass group for body mass analysis.SPSS 16.0 software was used for data analysis to clarify the influence of the above factors on the detection of carnitine indexes by tandem mass spectrometry.DNA sequencing was performed to confirm the diagnosis and analyze the relevant pathogenic genotypes in children with positive screening, and these confirmed individuals were followed up.@*Results@#There was no statistical difference in the levels of C3, C8 and C102 between preterm infants and normal body mass infants in the gestational age group(all P>0.05), but other carnitine levels had statistically significant differences(all P<0.05). The difference of C102 level between the different birth weight groups was not statistically significant(P>0.05), but that of other carnitine levels were statistically significant(all P<0.05). There was no significant difference in the level of C182 between different blood collection time(P>0.05). The levels of free carnitine and acylcarnitine between the different season groups had statistically significant differences(all P<0.05). Primary carnitine deficiency was diagnosed in 10 cases, including 7 cases of maternal carnitine absorption deficiency.The incidence in Xuzhou was approximately 121 690.The pathogenic genotype showed a specific regional distribution characteristic in Xuzhou, in which pathogenic mutation type c. 1400C >G was the most common one.@*Conclusions@#Some factors play a role in neonatal screening for carnitine absorption deficiency by tandem mass spectrometry including gestational age, birth body weight, blood collecting time and season.Pathogenic genes present a regional characteristic in Xuzhou and maternal carnitine absorption deficiency with a higher rate, the clinical attention should be paid to screening for maternal carnitine absorption deficiency.

Clinical study on screening carnitine absorption deficiency in neonates by tandem mass spectrometry / 中华实用儿科临床杂志

Objective To estimate the levels of free carnitine and acylcarnitine in neonates,and summarize the incidence and clinical characteristics of carnitine absorption deficiency in Xuzhou. Methods Between November 2015 and December 2017,216 903 newborns were recruited with carnitine absorption deficiency screened via tandem mass spectrometry in Xuzhou. They were divided into different groups according to gestational age,birth body weight, blood collecting time and season,in which the group with gestational age <37 weeks was selected as the premature de-livery group,and the group with gestational age 37-41+6 weeks as the normal gestational age group for gestational age analysis,while the group with the birth body mass <2 500 g was selected as low birth body mass group and the group with the birth body mass of 2 500-3 999 g as normal birth body mass group for body mass analysis. SPSS 16. 0 software was used for data analysis to clarify the influence of the above factors on the detection of carnitine indexes by tandem mass spectrometry. DNA sequencing was performed to confirm the diagnosis and analyze the relevant pathogenic geno-types in children with positive screening,and these confirmed individuals were followed up. Results There was no sta-tistical difference in the levels of C3,C8 and C10: 2 between preterm infants and normal body mass infants in the ges-tational age grou(p all P>0. 05),but other carnitine levels had statistically significant differences(all P<0. 05). The difference of C10: 2 level between the different birth weight groups was not statistically significant(P>0. 05),but that of other carnitine levels were statistically significant(all P<0. 05). There was no significant difference in the level of C18: 2 between different blood collection time(P>0. 05). The levels of free carnitine and acylcarnitine between the different season groups had statistically significant differences(all P<0. 05). Primary carnitine deficiency was diag-nosed in 10 cases,including 7 cases of maternal carnitine absorption deficiency. The incidence in Xuzhou was approxi-mately 1: 21 690. The pathogenic genotype showed a specific regional distribution characteristic in Xuzhou,in which pathogenic mutation type c. 1400C >G was the most common one. Conclusions Some factors play a role in neonatal screening for carnitine absorption deficiency by tandem mass spectrometry including gestational age,birth body weight, blood collecting time and season. Pathogenic genes present a regional characteristic in Xuzhou and maternal carnitine absorption deficiency with a higher rate,the clinical attention should be paid to screening for maternal carnitine absorp-tion deficiency.

Analysis of neonatal hyperphenylalaninemia screening and therapeutic effect in Xuzhou from 2003 to 2015 / 中华围产医学杂志

Objective To investigate the prevalence,clinical classification,treatment and prognosis of neonatal hyperphenylalaninemia(HPA) in Xuzhou area,China.Methods Infants born between July 1,2003 and July 1,2015 in Xuzhou area were investigated.Heel blood samples of neonates were collected at 72 hours after birth,and the concentration of blood phenylalanine(Phe) was determined by fluorescent quantitative method in Xuzhou Maternity and Child Health Care Station Neonatal Disease Screening Center.Differential diagnosis was performed in all 265 cases diagnosed as HPA by urinary pterin analysis and dihydropteridine reductase activity determination.The blood Phe concentration and mental development were followed up regularly in infants with HPA.Mutations of phenylalanine hydroxylase (PAH) gene were analyzed by gene sequencing.The relationship between blood Phe concentration and mental development was analyzed by Bivariate correlation analysis.Results (1) The prevalence of HPA in neonates in Xuzhou was 1/4 635.Among the 265 confirmed HPA cases,260 cases(98.11％) had PAH deficiency,including 90(33.96％) classical phenylketonuria(PKU),84(31.70％) mild PKU and 86(32.45％) mild HPA.The other five patients(1.89％) diagnosed with tetrahydrobiopterin (BH4) deficiency all had 6-pyruvoyl tetrahydropteim synthase(PTPS) deficiency.(2) Among the 265 HPA cases,26 cases refused any treatment,including five cases of PTPS deficiency and 21 cases of PKU.Of the five patients with PTPS deficiency,two died and the other three had normal mental and physical development.Twenty-one PKU patients who refused treatment had mental retardation of various degrees.Among 153 PKU patients who received medical treatment,three died and 12 were lost to follow-up.(3) For 138 PKU patients who received dietary treatment and follow-up,the ages at the last visit were two months to 12 years,116 of them had normal mental development,the remaining 22 patients had mental retardation,and a negative correlation was observed between mental development and the average Phe concentration.(4) Thirty-five patients with PAH deficiency underwent gene sequencing,and 22 kinds of mutations of PAH gene were detected.Conclusions The prevalence of HPA in Xuzhou area is higher than the average national level.With early diagnosis and standard treatment,most of PKU neonates can have normal mental development.Phe level control is an important factor for mental development.

Relationship of calcineurin expression between T-lymphocyte and myocardium in patients with heart failure / 老年心脏病学杂志（英文版）

Objective Congestive heart failure (CHF) is the final common pathway of various heart diseases.Calcineurin,a calcium/calmodulindependent phosphatase consisting of a catalytic subanit A (CnA) and a regulatory calcium-binding subunit B (CnB),is activated in heart failure.This study aimed to investigate the relationship between mRNA level of calcineurin in circulating T-lymphocyte and that in myocardium in patients with CHF. MethodsA total of 38 patients with CHF (aged from 29 to 62 years) were included in this study.The mRNA levels of alpha-and beta-isoform of CnA in left ventricular anterior papillary muscle and peripheral lymphocytes were determined by semi-quantitative reverse transcription polymerase chain reaction.Pearson linear correlation analysis was performed,and difference was considered statistically significant at a P value <0.05. ResultsCalcineurin mRNA levels in lymphocytes were positively correlated with those in myocardium (for CnA-alpha mRNA,r=0.820;for CnA-beta mRNA,r=0.875;both P<0.01).CnA-beta mRNA levels in both circulating lymphocytes and myocardium increased significantly with increasing NYHA class (r=0.877 for peripheral blood and r=0.805 for cardiac muscle;both P<0.01). ConclusionsThe mRNA level of CnA-beta in circulating lymphocytes is positively correlated with that in myocardium and is a promising marker for the severity of cardiac dysfunction in patients with CHF.

Clinical features of six sporadic cases of infant pulmonary hemorrhage of enterovirns 71 infection without skin rash / 中华传染病杂志

Objective To understand the clinical features of infant pulmonary hemorrhage of enterovirus 71 infection without skin rash, and to improve the diagnosis and treatment of this disease.Methods Six infants infected with enterovirus 71 and presented pulmonary hemorrhage but no skin rash between November 2007 and October 2008 were retrospectively reviewed. The clinical manifestations, clinical outcomes, treatments, laboratory data and chest imaging changes of the cases were analyzed. Results The 6 cases were all younger than 2 years old. The cases distributed throughout the whole year without peak season. Enterovirus 71 gene was detected by reverse transcription-polymerase chain reaction (RT-PCR) and real time polymerase chain reaction from throat swabs and secretions of the respiratory tract. All the cases began with fever, and 4 of which were accompanied with vomit, and 2 accompanied with cough. After 1 to 3 days, they all got sudden deterioration, manifested with pale and cyanosis, and 1 had hyperspasmia. After intubation, they all had pink frothy fluid from the endotracheal tube. They all had obvious hyperglycaemia, 4 had tachycardia, and 2 had hypertension. All the 6 cases died, and 4 died within 6 h after deterioration. Conclusions Pulmonary hemorrhage of enterovirus 71 infection without skin rash is seen in infants. It is sporadic throughout the whole year. The disease is fulminant and the case often dies in short period of time.