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06 November 2019, Volume 34 Issue 11 Previous Issue    Next Issue

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Expert consensus on the method of establishing the cutoff value of screening indexes for hereditary and metabolic diseases in the newborn Inter-laborarory Quality Evaluation Committee of Screening for Hereditary and Metabolic Diseases in the Newborn，Clinical Testing Center， National ealth Commission 2019, 34(11): 881-884.  DOI: 10.19538/j.ek2019110601 Abstract ( )

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Diagnostic ideas of chronic diarrhea in children GENG Lan-lan，GONG Si-tang 2019, 34(11): 885-888.  DOI: 10.19538/j.ek2019110602 Abstract ( )   The etiology of chronic diarrhea in children is complex，which seriously affects children’s health and quality of life. Chronic diarrhea in childhood is common in infants. In addition to acquired factors，congenital anatomical abnormalities and congenital hereditary diseases should also be considered. The diagnosis of diarrhea should be based on comprehensive analysis of age，history，physical examination and laboratory tests. Further examination should be selected according to different conditions，including imaging，digestive endoscopy，pathology and special examination. Gene sequencing and functional verification should be used when genetic diseases are suspected. Eventually，most of the causes can be found.

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Genetic diagnosis in chronic diarrhea in children LIU Zhi-feng，JIN Yu 2019, 34(11): 889-891.  DOI: 10.19538/j.ek2019110603 Abstract ( )   Chronic diarrhea in children is a common digestive system disease with many types，and the clinical symptoms are complex. The symptoms of various chronic diarrhea diseases often overlap，so it is difficult to diagnose. Gene detection is an effective method for making diagnosis. In recent years，the progress of molecular diagnosis technology，especially the wide application of second generation gene sequencing （NGS） technology，has reduced the cost and time of gene detection. Therefore，selecting the appropriate gene diagnosis strategies and interpreting the reports are very important for clinicians.

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Congenital diarrhea and enteropathies in children HUANG Ying，YE Zi-qing 2019, 34(11): 892-895.  DOI: 10.19538/j.ek2019110604 Abstract ( )   Congenital diarrhea and enteropathies（CODEs） are typically monogenic disorders. Patients always present with persistent and severe chronic diarrhea. The diagnosis of CODEs is oftern delayed and there is a high mortality. Application of endoscopy，histologic evaluation and next generation sequencing might facilitate the diagnosis，and precision medicine to patients with CODEs.

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Tumor-related diarrhea in children SUN Mei，YE Xiao-lin 2019, 34(11): 895-898.  DOI: 10.19538/j.ek2019110605 Abstract ( )   Tumor-related diarrhea is a common cause of chronic diarrhea in children. It is mostly caused by neuroendocrine neoplasms，but can also be caused by other systemic tumors. Diarrhea is the initial symptom or as an accompanying symptom. It is characterized by a large amount of watery stools. Changes in peripheral hormones，amines and peptides are the main causes of diarrhea. Early diagnosis is a key factor in improving prognosis. The present review summarizes the clinical features of tumor-related diarrhea and the main points in diagnosis as well as the treatments.

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Protein-losing enteropathy in children SONG Lin*，XU Xi-wei 2019, 34(11): 899-902.  DOI: 10.19538/j.ek2019110606 Abstract ( )   Protein-losing enteropathy，or protein-losing gastroenteropathy，refers to a group of diseases in which serum proteins are excessively lost from the gastrointestinal tract due to various causes. The pathogenesis mainly includes mucosal erosion and exudation，increased permeability and intestinal lymphatic obstruction. Clinical manifestations vary greatly with underlying diseases，and the common manifestations are diarrhea，edema and malnutrition. The main characteristics of laboratory examination are the decrease of serum albumin and globulin. Increase in 24-hour alpha-1 antitryptase clearance rate or lymphonuclide intestinal protein tracing image can be used as an evidence of intestinal protein loss. Treatment includes dietary therapy and treatment for underlying diseases.

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Transjugular closure of atrial septal defect under transesophageal echocardiography guidance in infants：A report of 13 cases SUN Hong-xiao*，LUO Gang，WAN Hao，et al 2019, 34(11): 903-906.  DOI: 10.19538/j.ek2019110607 Abstract ( )   Objective　To explore the availability of transcatheter closure of atrial septal defect（ASD） in infants guided by transesophageal echocardiography（TEE）. Methods　The clinical data of 13 infants（under one year old） with ASD who underwent transcatheter closure via right jugular vein through adjustable curved sheath under guidance of TEE from June 2015 to March 2018 in Qingdao Women and Children’s Hospital were analyzed retrospectively. The operation effect，time and complications were evaluated. Results　All 13 infants were successfully occluded. TEE can accurately guide the establishment of the delivery track. The operation time was （27.2±15.1） minutes. All patients had satisfactory occluder shape and fixed position，without such complications as arrhythmia，hemolysis，embolism，infection，pneumothorax，hemothorax or vessel injury. Conclusion　TEE-guided transjugular closure of ASD is a feasible method，which can avoid surgical risks and vessel complications in young and low-bodyweight infants；Meanwhile，the potential radiation damage can be avoided.

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Genetic analysis of glucose-6-phosphate dehydrogenase deficiency among newborns in Zhejiang Province CHEN Ling-li*，WU Ding-wen，ZHU Lin，et al 2019, 34(11): 907-910.  DOI: 10.19538/j.ek2019110608 Abstract ( )   Objective　To analyze the characteristics of gene mutations of glucose-6-phosphate dehydrogenase（G6PD） deficiency in the neonates of Zhejiang Province，and discuss the genetic diversity. Methods　A total of 2242 G6PD values and blood stains on dry filter were collected from the children borned in Zhejiang Province with positive screening of G6PD deficiency between March 2015 and September 2017 in Neonatal Metabolic Screening Center of Zhejiang Province. Genomic DNA of the stains were extracted. Thirty-five gene mutation sites were detected by MassARRAY technology. The relationship between mutation gene sites and G6PD activity were analyzed by SPSS 22.0，taking P＜0.05 as the difference with statistical significance. Results　The mutation detection rate was 96.47%（2163/2242），including 96.51%（1995/2067） in males and 96%（168/175） in females. A total of 21 mutation sites 44 mutant genotypes were found，including 19 kinds of male hemizygote，14 kinds of female heterozygous，3 female homozygous type and 8 female complex heterozygous type. About 95.93% of G6PD mutations were located in exons 12，9，2，5，among which c.1376G＞T，c.1388G＞A，c.1024C＞T，c.95A＞G，c.871G＞A and c.392G＞T accounted for 92.96%. There were statistically significant differences in G6PD activity of c.1376G＞T，c.1388G＞A，c.1024C＞T，c.95A＞G （P＜0.0001）. Conclusion　There are mutation hotspots in G6PD deficiency in Zhejiang Province. The mutation frequency of c.1024C＞T has obvious regional characteristics. Using MassARRAY technology to detect specific mutation sites can be a choice as a second-level screening method for G6PD deficiency.

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Meta-analysis of lung ultrasound for the diagnosis of neonatal pneumonia ZONG Hai-feng*，GUO Guo，LIU Jing 2019, 34(11): 911-916.  DOI: 10.19538/j.ek2019110609 Abstract ( )   Objective　To evaluate the diagnostic value of lung ultrasound for neonatal pneumonia by Meta-analysis.Methods　PubMed，Cochrane library，Embase，CNKI and Wanfang Database were searched from database establishment to September 2018 to gather articles according to the inclusion and exclusion criteria of diagnostic research. A total of 907 studies were retrieved. Eight studies were selected for analysis. QUADAS2 was used to evaluate the quality of articles included. Heterogeneity was assessed by using Q and I 2 statistics. Meta-Disc 1.4 software was applied for the statistical analysis to evaluate the diagnostic value of lung ultrasound for neonatal pneumonia. Results　A total of 8 articles involving 1078 cases were included. Random effect model was adopted for statistical analysis. The pooled sensitivity was 0.96（95%CI：0.95-0.98）；the pooled specificity was 0.98（95%CI：0.95-0.99）；the pooled positive likelihood ratio was 19.52（95%CI：5.00-76.15）；the pooled negative likelihood ratio was 0.04（95%CI：0.01-0.16）；the pooled odds ratio was 565.45（81.80-3908.58）；the area under SROC was 0.9950. Conclusion　The sensitivity and specificity of lung ultrasound in the diagnosis of neonatal pneumonia are higher than X-ray. Considering the features of being easy，readily availability，low cost，and being free from radiological hazards，current evidence supports lung ultrasound as an imaging alternative for the diagnosis of neonatal pneumonia.

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Effects of Lactobacillus reuteri on early feeding tolerance and infection prevention in preterm infants：A report of 93 cases CUI Xue-wei，FU Jian-hua 2019, 34(11): 917-921.  DOI: 10.19538/j.ek2019110610 Abstract ( )   Objective　To explore role of Lactobacillus reuteri DSM 17938 in the early feeding tolerance，growth and infection prevention of preterm infants. Methods　The clinical data of 93 cases of preterm infants admitted between January 2017 and June 2018 to the First Department of Neonatology，Shengjing Hospital of China Medical University were analyzed retrospectively. All the cases were divided into the intervention group（n＝45） and the control group（n＝48）. Both groups of preterm infants were fed with the same type of premature infant formula and received parenteral nutrition if necessary. The intervention group was given a dose of 1×108 colony-forming units（5 drops） of Lactobacillus reuteri DSM 17938 once a day，until discharge. The control group did not take any probiotics. The early feeding tolerance，reflux，growth，nosocomial infection，neonatal necrotizing enterocolitis and adverse effects were observed in both groups of preterm infants. Results　The incidence of vomiting，abdominal distension and gastric retention in the intervention group was lower than that in the control group（P＜0.05）. The number of daily reflux in the intervention group was significantly lower than that in the control group（P＜0.001） and the maximum feeding amount was significantly higher than that in the control group（P < 0.01）. Among the growth indicators，the average daily weight gain and head circumference increase of intervention group were significantly higher than those of the control group（P＜0.01）. There was no significant difference in the incidence of nosocomial infection and necrotizing enterocolitis between the two groups（P＞0.05）. The length of hospital stay was shorter in intervention group than in the control group（P＜0.05）. No adverse effects were found in the intervention group. Conclusion　Lactobacillus reuteri DSM 17938 can improve the early feeding tolerance of preterm infants，reduce reflux，promote growth and shorten the length of hospital stay.

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Reliability study on North Star Ambulatory Assessment for the children with Duchenne muscular dystrophy QIN Lun，LI Yi-fang，ZHAO Xi-wen，et al 2019, 34(11): 922-926.  DOI: 10.19538/j.ek2019110611 Abstract ( )   Objective　To evaluate the interrater and intrarater reliability of North Star Ambulatory Assessment（NSAA） used in the children with Duchenne muscular dystrophy（DMD） and explore the feasibility of evaluating motor function by videos. Methods　The assessment data of 40 cases of DMD admitted from July 2017 to November 2017 to Peking University First Hospital were analyzed. Forty DMD boys aged 4.3 to 13.4 years were admitted. They were divided into three groups based on their age. Ten boys were younger than 5 years. Eighteen boys were aged 5 to 9 years. Twelve boys were older than 9 years. Three evaluators，A，B，and C，joined the study. In the interrater reliability study，evaluator A performed the evaluation with NSAA on the boys and video-taped their performance，then evaluators B and C scored the performance in the videos independently to examine interrater reliability. After one month，three evaluators rescored the performance according to the videos again to examine the intrarater reliability. The intra-group reliability was calculated according to the NSAA scores evaluated by the evaluators B and C twice for the same child. The consistency of the video score with the on-site score was calculated according to the NSAA score of the two assessments of the same child by evaluator A. Intraclass correlation coefficient（ICC） was calculated to examine the reliability. Results　In the interrater reliability study，total ICC was 0.990，subgroups ICC was from 0.971 to 0.992. In the intrarater reliability study，total ICC was from 0.987 to 0.988. The video score and the on-site score were consistent with ICC being 0.980. Conclusion　NSAA is a reliable and practical method to evaluate the motor development of children with DMD. The consistency between on-site scoring and video scores is high.

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Enuresis alarm therapy for preschool children with primary monosymptomatic nocturnal enuresis: A report of 95 cases CHU Mei*，CAO Li，LIU Xiao-mei，et al 2019, 34(11): 927-930.  DOI: 10.19538/j.ek2019110612 Abstract ( )   Objective　To explore the effectiveness of enuresis alarm therapy on preschool children with primary monosymptomatic nocturnal enuresis（PMNE）. Methods　Totally 95 PMNE preschool children aged 3.5 to 6 years admitted between January 2017 and July 2018 to Department of Nephrology，Affiliated Children’s Hospital of Capital Institute of Pediatrics，were  randomly divided into two groups：alarm group（53 cases） and control group（42 cases）. The alarm group was managed by enuresis alarm therapy，while the control group received basic treatment. Treatment ceased after 12 weeks of training or when the cases achieved 14 consecutive dry nights（meaning successful treatment）. The relapse cases were recorded 1 month after stopping treatment. The alarm therapy was performed again in the relapse cases for another course. Results　Seven cases（13.2%） discontinued intervention in the alarm group. The response of the alarm therapy in the remaining 46 patients was as follows：full response（FR） in 29 cases（63.0%），partial response（PR）in 7 cases（15.2%），no response（NR） in 10 cases（21.7%）. A total of 25 patients achieved 14 consecutive dry nights in FR cases. Successful treatment requires a minimum course of treatment for 42 days. Relapse occurred in 11 cases within the first 1 month after stopping treatment，and 8 relapse patients responded to another course of alarm therapy. Three cases（7.1%） lost to follow-up in the control group. The response of the control group in the remaining 39 patients was as follows：FR in 0 case，PR in 17 cases（43.6%） and NR in 22 cases（56.4%）. No cases achieved successful treatment in the control group. The full response rate was significantly different between two groups（Fisher’s exact test χ2＝55.10，P＝0.00）. Half（5 cases） of NR patients were less than 4 years old，while in the FR+PR patients，the percentage of children under 4 years old was only 8.3%（3 cases） in alarm therapy group（Pearson chi-square test，χ2＝9.457，P＝0.007）. No severe adverse events occurred in all cases. Conclusion　Enuresis alarm therapy is a safe and effective way to treat PMNE preschool children. The enuresis alarm provided gradual effects and require more than 1 month in achieving successful effect. The appropriate age for alarm treatment is over four years old.

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Clinical study of dynamic changes of T lymphocyte level in children with protracted bacterial bronchitis JIA Chun-mei，JIANG Cai-rong，NING Li-hua，et al 2019, 34(11): 931-935.  DOI: 10.19538/j.ek2019110613 Abstract ( )   Objective　To investigate the relationship between pathogenesis of PBB and the T cell subsets disorders and to evaluate the clinical significance of immunomodulatory therapy to the prognosis of PBB and the prevention of recurrent PBB. Methods　A total of 127 cases of PBB children treated in the Fourth Hospital of Baotou City from May 2015 to May 2018 were selected. Blood samples were collected before treatment，and the levels of CD4，CD8 cells and CD4/CD8 in peripheral blood T cell subsets were detected by flow cytometry. All children with PBB（PBB group） were given oral amoxicillin and clavulanate potassium for 2 to 4 weeks. The subjects were divided into Huaiqihuang group（n＝66） and non-Huaiqihuang group（n＝66）. The Huaiqihuang group was given Huaiqihuang granules based on the anti-infective treatment. In addition，healthy children were enrolled as control group（n＝39）. T cell subsets of the two groups were reexamined 3 months after treatment. By analyzing the cough symptom scores of all children after 2 weeks， 4 weeks and 12 weeks of treatment，the rate of cure and improvement and the recurrence rate after 1 year were evaluated. SPSS16.0 software was used for data processing， and the difference was significant if P＜0.05. Results　Before treatment，there were 48 cases（37.80%） of CD4/CD8 abnormalities in the PBB group and 4 cases（10.26%） in the control group. The difference between the two groups was statistically significant（P＜0.01）. After treatment， the number of abnormal CD4/CD8 cases in the PBB group was reduced to 18 cases（14.17%）， and the difference was statistically significant compared with that before treatment（P＜0.01）. Prior to treatment， there were 33 cases（50.00%） of abnormal CD4/CD8 in Huaiqihuang group， and the number decreased to 8 cases（12.12%） after 12 weeks of treatment， showing statistically significant differences（P＜0.01）. However， in the non-Huaiqihuang group， there were 15 cases（24.59%） of CD4/CD8 abnormality before treatment， and 10 cases（16.39%） of CD4/CD8 abnormality  after treatment， showing no statistically significant difference（P＞0.05）. In 2 weeks after treatment， the cough symptom scores of the PBB group began to decrease， and the non-Huaiqihuang group decreased more significantly， with statistically significant difference（P＜0.05）. After 4 weeks and 12 weeks of continuous treatment， although the cough symptom scores of the PBB group continued to decrease， the difference between the two groups was not statistically significant（P＞0.05）. Follow-up showed that the recurrence rate of Huaiqihuang group was lower than that of non-Huaiqihuang group in 1 year after the end of treatment， and the difference between the two groups was statistically significant（P＜0.01）. Conclusion　Children with PBB have T cell subsets disorder， and the treatment of anti-infection combined with Huaiqihuang granules for at least 4 weeks has a positive effect on PBB prognosis and recurrence prevention.

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Clinical study on the efficacy and safety of terbutaline sulfate for injection in the treatment of children with wheezing disease JIANG Wu-jun*，HAO Chuang-li，FAN Ying-hong，et al 2019, 34(11): 936-939.  DOI: 10.19538/j.ek2019110614 Abstract ( )   Objective　To investigate the efficacy and safety of nebulized inhalation of terbutaline sulfate for injection in the treatment of children with wheezing disease. Methods　From December 2016 to April 2018，440 cases of lower respiratory tract infection with cough and wheezing were hospitalized for treatment in the Department of Respiratory Medicine of Children’s Hospital of Soochow University，Chengdu Women’s & Children’s Central Hospital and Dalian Children’s Hospital of Dalian Medical University. The children were selected and randomly divided into terbutaline sulfate for injection group（Group A），terbutaline sulphate solution for nebulization group（Group B） and control group（Group C）. The efficacy and adverse reactions of the three groups were compared. Results　The scores of wheezing symptoms in group A and group B decreased more significantly than those in group C（P＜0.05）. Group A and group B had a certain influence on heart rate，and the heart rate at 30 minutes and 60 minutes after nebulization was higher than that of group C. In addition to the effect on heart rate，no other adverse reactions were found in group A and group C；one patient in the group B developed arm tremor and disappeared after stopping the drug. Conclusion　Inhalation of terbutaline sulfate for injection in the treatment of children with wheezing disease can shorten the treatment time and effectively improve the clinical treatment effect. The clinical efficacy is comparable to that of terbutaline sulphate solution for nebulization，and it is safe and worthy of clinical application.

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Imaging and pathological features of pilomyxoid astrocytoma in children ZHU Hua-chen，ZHOU Jian 2019, 34(11): 940-944.  DOI: 10.19538/j.ek2019110615 Abstract ( )   Objective　To investigate the imaging characteristics and their relationship with histopathological changes of pilomyxoid astrocytomas（PMA） in children. Methods　The CT and MRI findings as well as clinical data of 20 pediatric patients with PMA admitted to Beijing Tiantan Hospital，Capital Medical University between October 2010 and June 2018 were  analyzed retrospectively，and their clinical features，pathological and immunohistochemical results were also analyzed. Results　There were 15 males and 5 females in total 20 patients with PMA. Tumors were located at cerebellar hemisphere in 10，cerebral hemisphere in 5，chiasmatic-hypothalamic region in 4 and at the third ventricle in 1. Of 20 patients with PMA，10 presented hypodense on CT images，11 showed mixed signal intensity on both T1 and T2 weighted images on MRI，7 demonstrated hypointensity on T1WI and 7 had hyperintensity on T2WI. Absence of diffusion restriction were noticed in 12 tumors. The tumors showed significant inhomogeneous enhancement in 17 cases under MRI enhanced screening. The cases of neoplasm clear margin，necrosis inside tumors and peritumor edema were 18，16 and 11，respectively. Histopathologically，PMA was characterized by the presence of bipolar spindle cells，angiocentric arrangement，prominent myxoid background and the lack of Rosenthal fibers. Conclusion　The pediatric PMA has low-grade tumor features and characteristic imaging features. There are several imaging features which are relatively specific for PMA on CT and MR images，such as heterogeneous texture，clear border，cystic changes of edge and inhomogeneous enhancement. CT and MRI may provide valuable information for preoperative diagnosis，clinical treatment and prognostic evaluation in patients with PMA.

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Nutcracker phenomenon combined with renal diseases in children：A clinical analysis of 80 cases YANG Yuan-yuan，LI Wei，JIANG Hong 2019, 34(11): 945-948.  DOI: 10.19538/j.ek2019110616 Abstract ( )

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Research progress in NEMO syndrome LIU Yang，HU Jian 2019, 34(11): 949-953.  DOI: 10.19538/j.ek2019110617 Abstract ( )

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Research progress in the diagnosis and treatment of allergy in children WANG Jing-hua，LIU Cong-cong，PAN Lu，et al 2019, 34(11): 954-962.  DOI: 10.19538/j.ek2019110618 Abstract ( )

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Research progress in the role of non-coding RNA in heart-related diseases ZHU Xiao-geng，ZHANG Tie-ning，WEN Ri，et al 2019, 34(11): 963-968.  DOI: 10.19538/j.ek2019110619 Abstract ( )