Table of Content

15 September 2018 Volume 36 Issue 9

  

Association between SLCO1B1 gene polymorphism and neonatal hyperbilirubinemia

JIANG Yuhui, LIU Ling, XI Ming, ZHANG Fengquan

. 2018, 36(9):  649.  doi:10.3969/j.issn.1000-3606.2018.09.001

Abstract ( 464 )  

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　Objective　To explore the correlation between single nucleotide polymorphisms of SLCO1B1 (encoding gene of organic anion transporting polypeptide 1B1, OATP1B1) and neonatal hyperbilirubinemia. Method　A total of 300 cases of neonatal hyperbilirubinemia were randomly selected as case group from September 2014 to September 2016, and 300 cases of matched neonates without hyperbilirubinemia were randomly selected as the control group. Genomic DNA was extracted and Sequenom specific SNP loci were used to detect gene polymorphisms of SLCO1B1 rs59502379, rs56101265, rs72559748, rs72559745, rs56061388, rs55901008, rs4149056 and rs56199088, and the difference between the two groups was analyzed. Results　Gene polymorphisms of SLCO1B1 rs59502379, rs56101265, rs72559745, rs56061388, rs55901008 and rs56199088 were not found. The allele gene frequency of SLCO1B1 rs4149056 was 12% in case group and 11% in control group and there was no significant difference between two groups (P>0.05). The allele gene frequency of SLCO1B1 rs72559748 in case group was 2.5%, lower than that of control group (5.2%). It was suggested that the mutation of SLCO1B1 rs72559748 was not associated with neonatal hyperbilirubinemia. Conclusions　No polymorphism was detected at the sites rs59502379, rs56101265, rs72559745, rs56061388, rs55901008 and rs56199088 of the OATP1B1 coding gene SLCO1B1. Polymorphism of SLCO1B1 rs4149056 and rs72559748 was found and it was not associated with neonatal hyperbilirubinemia.

Metabonomics study of necrotizing enterocolitis in preterm infants by 1H-NMR method

　CHEN Jianan, WANG Lizhou, WU Jinzhun

. 2018, 36(9):  653.  doi:10.3969/j.issn.1000-3606.2018.09.002

Abstract ( 526 )   PDF (1715KB) ( 242 )  

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Objective　To explore whether metabonomics can reveal early biomarkers of necrotizing enterocolitis (NEC) in preterm infants. Method　A retrospective analysis and comparison of the small molecular substances and lipid metabolites in plasma in 12 NEC premature infants and 23 non-NEC premature infants with similar age and body mass were performed. Blood samples were collected from NEC preterm infants within one hour of onset, and 1H-NMR was used to detect the small molecule substances and lipid metabolites in plasma. Results　Compared with the control group, the levels of β-hydroxybutyrate, succinic acid, LDL/VLDL and polyunsaturated fatty acids in NEC group were significantly increased; the levels of isoleucine, leucine, valine, alanine, creatine and threonine were significantly decreased;  the levels of lysine, glutamic acid, citric acid, tyrosine and glucose in NEC group were decreased slightly; there were statistically difference. Conclusion　Necrotizing enterocolitis is a disease that is accompanied by an abnormality in metabolism pathway associated with inflammatory pathway such as glutamate glutamine, ketone body and alanine and lipid metabolism disorder at its onset. Metabonomics can be used in the study of NEC in preterm infants.

Clinical and genetic analysis of early onset methylenetetrahydrofolate reductase deficiency in a child

　XIE Yi, YUAN Yi, CHEN Yu, SU Tangfeng, LIU Yan

. 2018, 36(9):  658.  doi:10.3969/j.issn.1000-3606.2018.09.003

Abstract ( 589 )   PDF (2125KB) ( 407 )  

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Objective　To explore the clinical characteristics, treatment and prognosis of methylenetetrahydrofolate reductase deficiency caused by MTHFR gene mutation. Methods　The clinical data and MTHFR gene test results in one child with epilepsy and hydrocephalus caused by MTHFR deficiency were retrospectively analyzed, and the related literature were reviewed. Results　Convulsions, irregular breathing, feeding difficulties, hypotonia and elevated homocysteine levels (147.9 μmol/L) were observed on the 10th day after birth in a female infant. Gene sequencing showed that there were compound heterozygous mutations in MTHFR gene (c.1319_c.1320 insTT and c.1262G>A) and the mutation c.1319_c.1320 insTT was first reported. After 2 weeks of treatment with betaine, calcium folate, vitamin B6 and vitamin B12, the serum total homocysteine level was decreased and the clinical symptoms were improved, but apparent hydrocephalus and mental retardation happened within the next one month. Conclusion　Early onset methylenetetrahydrofolate reductase deficiency can be manifested in the early postnatal period. Blood homocysteine determination and gene detection are helpful for early diagnosis and intervention.

Clinical analysis of neonatal-onset epileptic encephalopathy caused by KCNQ2 mutation

　WANG Jue, LIU Yongle, ZHU Hui, LIN Xinfu

. 2018, 36(9):  662.  doi:10.3969/j.issn.1000-3606.2018.09.004

Abstract ( 821 )   PDF (1939KB) ( 1091 )  

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　Objective　To explore the clinical characteristics of neonatal-onset epileptic encephalopathy caused by KCNQ2 gene mutation. Method　The clinical data of 9 cases of neonatal-onset epileptic encephalopathy caused by KCNQ2 mutation were retrospective analyzed. Results　In 9 children (5 boys and 4 girls), median onset age was 2 days (0.5 hours to 8 days) and the median age was 10 months (1 month to 5 years) at the time of diagnosis. A total of nine heterozygous de novo KCNQ2 missense mutations were identified. They had common features such as tonic seizures or asymmetrical tonic seizures and a suppression-burst EEG pattern. Five cases were diagnosed of Ohtahara syndrome and four cases were diagnosed of unknown syndrome epileptic encephalopathy. After treatment with multiple drugs, 6 cases were seizure free. All of them had obvious motor and mental retardation. Conclusion　Epileptic encephalopathy caused by KCNQ2 mutation mainly occurs within one week after birth, and the prognosis is poor. Gene detection can confirm the diagnose.

Clinical and gene analysis of neonatal convulsion in 2 cases

　HUANG Chunling, CAO Guangna, TONG Xiaomei

. 2018, 36(9):  666.  doi:10.3969/j.issn.1000-3606.2018.09.005

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Objective　To explore the diagnosis and treatment of neonatal convulsion. Method　The clinical data of neonatal convulsion in two cases were retrospectively analyzed. Results　Two children were both males, and one was premature. Convulsions occurred on the second day after birth. The gene detection was performed after the common causes of convulsions were excluded after admission. The SCN2A gene mutation (c.5558A>G, p.H1853R) was found in case one and the treatment with luminal and topiramate had no obvious effect. The KCNQ2 gene mutation (c.836G>A, p.G279D), a novel mutation, was found in case two. Initially luminal was orally administered. Keppra and topiramate were added on 21st and 36th day respectively after birth and their dosages were increased gradually. The muscle tension of the lower extremities is still slightly higher. Conclusion　The etiology of neonatal convulsion is complex. Gene detection can identify the cause and provide a reference for the treatment and prognosis evaluation.

Congenital nephrotic syndrome of the Finnish type: a case report with literature review

　GAO Jinzhi, CHEN Ling

. 2018, 36(9):  670.  doi:10.3969/j.issn.1000-3606.2018.09.006

Abstract ( 512 )   PDF (1955KB) ( 419 )  

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　Objective　To explore the clinical characteristics and gene mutation of congenital nephrotic syndrome of the Finnish type (CNF). Method　The clinical data and gene test results of one CNF child and her siblings and parents were retrospectively analyzed and relevant literature were reviewed. Results　A female neonate who was born at gestational age of 31 weeks with birth weight of 1560 g presented with hypoproteinemia, proteinuria, and progressive pitting edema 3 days after birth. Two heterozygous mutations in NPHS1 gene, c.3478C > T (exon 27) and c.2515delC (exon 19), were found in the neonate by Gene detection. The results of routine urinalysis of her father, mother and twin sister were normal. The mutation of c.3478C＞ T was inherited from her father and c.2515delC (exon 19) from her mother, and her twin sister had no mutation. The two genetic mutations have been reported as pathogenic gene mutations, while c. 2515delC has not been reported domestically. Conclusion The gene mutation spectrum of CNF in China has been expanded by the discovered mutation gene.

The role of symbolic play test in early diagnosis and identification of autism spectrum disorders

　JI Yiting, SHEN Chun, FAN Yun, ZHANG Ting, SHU Yan, CHEN Liangliang, ZHU Tao, LI Fei, XU Mingyu

. 2018, 36(9):  674.  doi:10.3969/j.issn.1000-3606.2018.09.007

Abstract ( 743 )   PDF (1134KB) ( 405 )  

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Objective　To explore the influencing factors of symbolic play ability in children with autism spectrum disorder (ASD) and its application in the early diagnosis and identification of ASD. Method　The clinical data of 123 children who visited developmental behavior pediatric clinic from April 2015 to August 2017 were reviewed. There were 66 cases of global developmental delay (GDD) including 36 cases of ASD with GDD and 30 cases of simple GDD, and 57 cases without GDD including 31 cases of ASD without GDD and 26 cases of developmental language disorder (DLD). The results of symbolic play test (SPT) and Gesell developmental scale (Gesell) among different groups were compared, and the related influencing factors of symbolic play ability and its role in classification of diseases were explored. Results　In GDD children, the development month of symbolic play test (SPT) in ASD children with GDD was lower than that of the children with simple GDD, and the proportion of SPT development month retardation was higher than that of the children with simple GDD. In children without GDD, SPT development month in ASD children without GDD was lower than that of DLD children, and the proportion of SPT development month retardation was higher than that of DLD children, and there were statistical differences (P<0.05). In ASD children, the ability of symbolic play is positively correlated with the developmental quotients in the areas of Gesell (r=0.393~0.630， P<0.01), and had a significantly negative correlation with the ASD symptoms (r=−0.390~−0.387， P<0.01). Regression analysis showed that the symbolic play ability can distinguish between GDD and ASD combined with GDD independently in GDD children (OR=0.39, 95%CI: 0.745~0.992, P=0.034). But in ASD children without GDD, there was no significant difference (P>0.05). Conclusion　There is a developmental delay of symbolic play ability in ASD children, compared with the GDD and DLD children at comparable development level. SPT could be used to differentiate ASD from GDD,  and played an important role in early diagnosis and intervention in ASD.

Correlation of TSC1 and TSC2 genotype with clinical phenotype in tuberous sclerosis

　MEI Daoqi, FU Na, QIN Jiong

. 2018, 36(9):  678.  doi:10.3969/j.issn.1000-3606.2018.09.008

Abstract ( 658 )   PDF (1163KB) ( 544 )  

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Objective　To explore the correlation of TSC1 and TSC2 genotype with clinical phenotype in tuberous sclerosis. Method　The TSC1 and TSC2 gene analysis were performed in 30 children from August 2016 to August 2017, and the relationship between genotype and phenotype was analyzed. Results　In 30 children with tuberous sclerosis (22 males and 8 females) with a median age at 6.45 years, TSC1 gene mutation was found in 5 cases, and TSC2 gene mutation in 22 cases. A mutation rate was 90%. There were 5 types of mutations in TSC1 and TSC2 genes including missense mutation, nonsense mutation, large fragment deletion, frameshift mutation and shear mutation, and the incidence rates of nonsense mutations, shear mutations and transcoding mutations were the highest. Only shear mutation and frameshift mutation were found in TSC1 gene. All the above 5 mutations were found in TSC2 gene. A total of 12 clinical phenotypes of tuberous sclerosis were found and the facial angiofibroma, epilepsy and mental retardation had highest incidence. There was statistical difference in the incidence of epilepsy between the TSC2 and TSC1 genotypes (P<0.05). Conclusions　There are many clinical phenotypes and mutation types in tuberous sclerosis. The mutation frequency of TSC2 gene is higher than that of TSC1 gene, and the mutation of TSC2 gene is more likely to cause severe clinical manifestations of tuberous sclerosis.

Rubinstein-Taybi syndrome induced by CREBBP gene mutation: a case report

　LI Jianjian, FENG Qingxiang, LEI Yu, LIU Zhenzhen, LI Tao, ZHOU Qian, CHENG Xue

. 2018, 36(9):  683.  doi:10.3969/j.issn.1000-3606.2018.09.009

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　Objective　To explore the clinical and genetic characteristics of Rubinstein-Taybi syndrome (RSTS). Method The clinical data of a RSTS child diagnosed by gene test was retrospectively analyzed. Results　A male infant, more than 5 months old, had special face such as thick eyebrows, protruded supercilliary arch, down slanting palpebral fissures, epicanthus and ptosis. The whole exome sequencing revealed that there was a missense mutation of c.3609G > C (p.K1203N) in CREBBP gene. Sanger sequencing did not find that his parents carried the above mutations. It may be a new mutation. Conclusion　The mutation site of c.3609G > C (p.K1203N) in CREBBP gene was found and it enriched the gene mutation spectrum of RSTS.

Clinical， pedigree and genetic analysis of Aicardi-Goutières syndrome type 6 in a patient

XU Min, GUO Hu, LU Xiaopeng

. 2018, 36(9):  686.  doi:10.3969/j.issn.1000-3606.2018.09.010

Abstract ( 448 )   PDF (2244KB) ( 343 )  

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Objective　To explore the clinical, imaging and genotypic characteristics of Aicardi-Goutières syndrome (AGS) type 6. Method　The clinical data of AGS type 6 in a child was analyzed retrospectively, and related literature were reviewed. Results　The proband, an 11-year-old boy, have had growth retardation since childhood and visited the clinic for convulsions. He had symmetric mixed pigmentation and depigmentation spots on the back of the neck, hands and feet, and facial freckle-like pigment spots. Craniocerebral CT suggested bilateral basal ganglia calcification. Head MRI showed a thin corpus callosum and a widely abnormal signal in both sides of the internal capsule and outer capsule, periventricular white matter and centrum semiovale white matter. Gene sequencing suggested complex heterozygous mutations in ADAR, c.1A > G and c.3124C > T, which had not been reported in China. The elder brother of proband carried the same gene mutation and  had only skin lesions. The phenotypes of their parents were normal. Conclusion　This is the first reported AGS type 6 caused by ADAR gene mutation in China. The phenotype of ADAR gene is heterogeneous, which can be manifested as AGS or dyschromatosis symmetrica hereditaria.

Molecular epidemiology of NDM carbapenemase producing Klebsiella pneumoniae isolated from hospitalized children

LI Yuanrui, LIU Jingxian, YU Jing, ZHU Weinan, LIU Ying

. 2018, 36(9):  689.  doi:10.3969/j.issn.1000-3606.2018.09.011

Abstract ( 546 )   PDF (1167KB) ( 307 )  

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Objective　To explore the molecular epidemiologic characteristics of New Delhi metal-β-lactamase (NDM) carbapenemase producing Klebsiella pneumoniae strains. Methods　From September 2013 and March 2016, the carbapenemresistant Klebsiella pneumoniae (CRKP) were collected from hospitalized children. The NDM carbapenem gene was identified by PCR and DNA sequencing. The NDM carbapenemase producing CRKP strains were typed using pulsed-field gel electrophoresis (PFGE) and BioNumerics software. The clinical characteristics of children with different strains were compared. Results　In 93 CRKP strains, a total of 42 strains of NDM carbapenemase producing CRKP were detected, including 23 NDM1 and 19 NDM-5 carbapenemase producing strains. The NDM carbapenemase producing CRKP strains were divided into 14 types (type-A~N). Type-A, type-M and type-N were the dominant types, accounting for 69% (29/42). The other 11 types were non-dominant types, accounting for 31% (13/42). Type A strains (24%, 10/42) all produced NDM-1 carbapenemase, and type M strains (17%, 7/42) mainly produced NDM-5 carbapenemase. Type N strains (29%, 12/42) all produced NDM-5 carbapenemase, and the other 11 strains (31%, 13/42) mainly produced NDM-1 carbapenemase. The dominant strains were prevalent in pediatric ICU, while non-dominant strains were distributed in all pediatric wards. Infection rate after 48 h since admission, proportion of  indwelling drainage tube and duration of ICU stay in patients infected with dominant types were higher than those in patients infected with non-dominant types, and the differences were statistically significant (P<0.05). There were no statistically significant differences in age, gender, antibiotic usage, prognosis between the two groups (P>0.05). Conclusions　The NDM carbapenemase producing CRKP isolated from hospitalized children mainly produced NDM-1 or NDM-5 carbapenemase. Type A, M and N strains were three dominant PFGE types, which spread in a small scale in pediatric ICU wards.

Guided radiofrequency ablation using CARTO3 system for atrioventricular nodal reentrant tachycardia in children

WU Yangzi, ZENG Shaoying, ZHANG Zhiwei

. 2018, 36(9):  694.  doi:10.3969/j.issn.1000-3606.2018.09.012

Abstract ( 516 )   PDF (1292KB) ( 194 )  

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Objective　To explore the safe method of radiofrequency catheter ablation (RFCA) for treatment of atrioventricular nodal reentrant tachycardia (AVNRT) in children. Methods　The clinical data of 80 AVNRT children who received RFCA under the guidance of CARTO3 system from January 2014 to April 2017 were retrospective analyzed. Results Eighty AVNRT children (48 boys and 32 girls) had an average age of 11.74 ± 2.49 years and mean weight of 42.19 ± 12.97 kg. The weight of 6 cases (7.5%) was less than 27 kg. The average fluoroscopy time during the treatment was 6.87±7.09 min with radiation doses at 10.71±7.02 mGy and procedure time at 80.81±29.14 min. The immediate successful rate was 98.75% (1/80). The recurrence rate was 1.25% (1/80) during follow-up and the complication rate was 1.25% (1/80), and there was no death case. Conclusions　Under the guidance of the CARTO3 system, combined with anatomical and electrophysiological methods, energy titration approach of RFCA is safe and effective treatment of AVNRT.

The efficacy and safety of different doses of caffeine citrate in the treatment of apnea in premature infants: a metaanalysis

　CHEN Jing, CHEN Xiao, GONG Fang

. 2018, 36(9):  697.  doi:10.3969/j.issn.1000-3606.2018.09.013

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Objective　To explore the efficacy and safety of different maintenance doses of caffeine citrate in the treatment of apnea in premature infants by meta-analysis. Method　The databases of PubMed, The Cochrane Library, OVID, EMbase, Web of Science, CBM, VIP, WanFang and CNKI were searched from construction to June 2017, and randomized controlled trials (RCT) about high maintenance dose [10~20 mg/(kg·d)] and low maintenance dose [5~10 mg/(kg·d)] of caffeine citrate in the treatment of premature infants with apnea were included. RevMan 5.3 and Stata 12 were used for meta-analysis. Results　A total of 8 RCT were included, including 1000 children. Meta-analysis showed the effective rate (RR=1.30, 95%CI: 1.09~1.56, P=0.003) and the rate of tachycardia (RR=2.23, 95%CI: 1.34~3.73, P=0.002) in high-dose caffeine group were higher than those in low-dose caffeine group, and the failure rate of extubation (RR=0.50, 95%CI: 0.35~0.71, P=0.0001) and the incidence of bronchopulmonary dysplasia (RR=0.82, 95%CI: 0.70~0.95, P=0.01) were lower than those of the low maintenance dose of caffeine group, and there were significantly differences (P＜0.05). There was no difference in the incidence of other adverse reactions between the two groups (P＞0.05). Conclusion　High-dose caffeine citrate in the treatment of apnea in premature infants is better and safer than low doses.

Progress in prevention and treatment of neonatal respiratory distress syndrome and bronchopulmonary dysplasia

WANG Meiqi

. 2018, 36(9):  702.  doi:10.3969/j.issn.1000-3606.2018.09.014

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　Neonatal respiratory distress syndrome (NRDS) and bronchopulmonary dysplasia (BPD) are common in premature infants. In recent years, with the improvement of perinatal medical technology, the survival rate of NRDS preterm infants has been improved, but with the application of mechanical ventilation and high concentration oxygen therapy, the incidence of BPD is also increasing. NRDS and BPD share the same genetic factors. SP-B deletion is associated with the pathogenesis and progression of NRDS and BPD. Also, there is a association in pathogenesis mechanism between the two. Thus, standardized prevention and treatment of NRDS can effectively prevent BPD to a certain extent. The aim of the article is to review the latest progress in the prevention and treatment of NRDS and BPD.

Application of biphasic positive airway pressure ventilation for respiratory support in preterm infant

MA Li, YANG Haibo

. 2018, 36(9):  707.  doi:10.3969/j.issn.1000-3606.2018.09.015

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Although mechanical ventilation improves the survival rate of preterm infants, it also increases the risk of bronchopulmonary dysplasia and adverse neurodevelopmental outcome. In recent years, biphasic positive airway pressure ventilation (BiPAP) is a new non-invasive ventilation mode and has been applied more and more to the respiratory support of premature infants. Since BiPAP provides two pressure levels alternately and two pressure phases allow breathing autonomously, it is better to improve gas exchange and improve oxygenation and thus is better than continuous positive airway pressure (CPAP) in premature infants with respiratory distress syndrome and apnea. This article describes the working principle of BiPAP and its application in respiratory support of premature infants, so as to provide evidence for its promotion and wide application in clinic.

Efficacy, timing and safety of pneumococcal vaccination in preterm infants

HU Sile

. 2018, 36(9):  711.  doi:10.3969/j.issn.1000-3606.2018.09.016

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　The infection rate and the infection related fatality rate of Streptococcus pneumoniae in children are high globally, especially in preterm infants. Because of the low immunity in preterm infants, the effectiveness of vaccination against Streptococcus pneumoniae is uncertain, and thus the vaccination is often delayed. Furthermore the risk of vaccine related adverse reactions such as apnea and bradycardia in preterm infants is high. The immunological effect, timing and safety of Streptococcus pneumoniae vaccine in premature infants were reviewed.

Progress in epidemiology of focal segmental glomerulosclerosis

WU Heyan, GAO Chunlin, LU Mei

. 2018, 36(9):  716.  doi:10.3969/j.issn.1000-3606.2018.09.017

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Focal segmental glomerulosclerosis (FSGS) is a clinicopathological syndrome characterized by focal segmental glomerulosclerosis and podocyte fusion. The main clinical manifestations are massive proteinuria and nephrotic syndrome (NS). It mostly is hormone resistant and often progresses to end-stage renal disease. It is one of the main diseases that progress to endstage nephropathy in children. In recent years, the detection rate of FSGS by renal biopsy is increasing worldwide. This article reviews the progress in epidemiology of FSGS.

Deutetrabenazine and levetiracetam in the treatment of Tourette's syndrome

MA Yingjun

. 2018, 36(9):  720.  doi:10.3969/j.issn.1000-3606.2018.09.018

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　Tourette's syndrome (TS) is a severe type of tic disorder (TD). In recent years, the morbidity of TS has been increasing, and the clinical manifestations are complex and diversified, which has a serious impact on the quality of life of children. At present, drug treatment is still the main treatment for TS at home and abroad, but traditional drugs are difficult to effectively treat TS due to multiple adverse reactions and poor drug compliance. Therefore, to find new drugs instead of the treatment of TS has become a research hot spot. This article reviews the recent progress in the use of deuterated tetrabenazine and levetiracetam in the treatment of TS in China and abroad.