Table of Content

15 July 2018 Volume 36 Issue 7

  

Relationship between percent body fat and hypertension in children and adolescents

XU Renying, ZHOU Yiquan, ZHANG Xiaomin, CHEN Zhiqi, WAN Yanping

. 2018, 36(7):  481.  doi:10.3969/j.issn.1000-3606.2018.07.001

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　Objectives　To explore the relationship between percent body fat and hypertension in children and adolescents. Method　A cross-sectional study was conducted in 5144 children (2649 boys and 2495 girls) aged 6~13 years. Body height, body weight and blood pressure of all the children were collected, and percent body fat (PBF) was detected by bioelectrical impedance analysis. Either Systolic or diastolic blood pressure above ninety-fifth percentile of that of the same age and gender is considered hypertension. The cut point value of PBF for predicting hypertension was analyzed by ROC curve. Multivariate logistic regression was used to evaluate the effect of PBF on hypertension. Result　The distribution of PBF peaked in ten-yearold boys while it increases with age in girls. The cut-off values of PBF in boys and girls for predicting hypertension were 18% and 18.8% respectively. After controlling for the effects of age, sex, height and body weight, the risk of hypertension increased by 51% (OR=1.51, 95%CI: 1.04~2.07) in boys and 53% (OR=1.53, 95%CI: 1.00~2.34) in girls when the PBF was higher than the cut-off point. PBF was less effective than BMI for predicting hypertension in boys (area under curve for BMI 0.695 vs PBF 0.649, P<0.01) while there was no significant difference between the PBF and BMI in girls (area under curve for BMI 0.650 vs PBF 0.644, P>0.05). Conclusion　The cut-off values of PBF in boys and girls for predicting hypertension were 18% and 18.8% respectively. BMI is still superior to PBF for predicting hypertension in children.

Correlation of insulin resistance with heart rate variability and heart rate deceleration in school-age obese children

HUANG Fang, WEN Hongxia, CAO Xiaoxiao

. 2018, 36(7):  486.  doi:10.3969/j.issn.1000-3606.2018.07.002

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Objective　To investigate the relationship of insulin resistance (IR) with heart rate variability (HRV), heart rate deceleration (DC) and heart rate acceleration (AC) in school-age obese children. Method　A total of 83 obese children aged 6~10 years were selected and their to insulin resistance index (IRI) were calculated based on fasting blood glucose and fasting insulin value. The subjects were divided into IR group (45 cases) and non IR group (38 cases) according to the IRI value. In the same day of detection of fasting blood glucose and fasting insulin, 24 h dynamic electrocardiogram was performed. The indicators of DC, AC and HRV in group IR and group non IR were calculated and compared, and their correlations were analyzed. Results　In IR group, the DC, standard deviation of normal RR intervals (SDNN), standard deviation of the 5-minute average RR intervals (SD ANN) and high frequency (HF) power of children were lower than those in non IR group, while AC was higher than that in non IR group, and there were significant differences (P<0.05). The IRI in obese children was significantly negatively correlated with DC, SDNN, SDANN, root mean square successive differences (RMSSD), low frequency (LF) power and HF (r=−0.475~−0.249， P<0.05), while it was significantly positively correlated with AC (r=0.488， P<0.01) in obese children. Conclusion　Compared with non-IR obese children, IR has serious damage to autonomic nerve function and mainly manifestations are the decreased vagus nerve tension. The higher IRI has the lower vagus nerve tension.

Temporary cardiac pacing for severe hemodynamic disturbance caused by bradyarrhythmia in children: a report of 3 cases　

LIU Dong, LIU Bin, JIA Peng, LI Gang, LIU Qin, WAN Xiaohong, SONG Meixuan

. 2018, 36(7):  490.  doi:10.3969/j.issn.1000-3606.2018.07.003

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Objective　To explore the role of temporary cardiac pacing in severe hemodynamic disorders caused by bradyarrhythmia in children. Method　The clinical data of 3 children with severe hemodynamic disorder caused by bradyarrhythmia treated with temporary cardiac pacing were retrospectively analyzed. Results　Three children, one 12-yearold boy and two 5-year-old girls, were treated with drugs first, but the condition continued to deteriorate. Temporary cardiac pacemakers were installed within 10 hours after admission, and the hemodynamic was quickly improved. The temporary pacemakers were removed 10 days in two boys and 11 days in one girl after operation. The prognosis was all good in short-term follow-up. The family members of a girl abandoned treatment 21 days after surgery. The girl survived but was found to have cardiac dysfunction at one-year follow-up. Conclusion　When the hemodynamic disorder is caused by serious bradyarrhythmia, the temporary cardiac pacing device is effective.

Anomalous origin of left coronary artery from right coronary sinus in children: a case report and literature review　

ZHAO Jian, ZHANG Yongwei, LI Yun, XIAO Tingting, XIE Lijian, WANG Jianyi, JIANG Xunwei

. 2018, 36(7):  493.  doi:10.3969/j.issn.1000-3606.2018.07.004

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　Objective　To explore the clinical significance of anomalous origin of coronary artery from the aorta. Methods　The clinical data of a case of anomalous origin of coronary artery from the aorta which was misdiagnosed as fulminant myocarditis in the early stage of the disease were retrospectively analyzed and relative literature were reviewed. Results　A 9-year-old girl had syncope after exercise and was found to have the significant elevation of myocardial enzyme and troponin. Electrocardiogram showed myocardial ischemia changes and the cardiac ultrasonography indicated decreased cardiac function. It was diagnosed as the left coronary artery from the right coronary sinus by the CT angiography. Conclusion　The anomalous origin of coronary artery is a rare cardiovascular malformation. Some patients have a potential risk of sudden death.

A mutation in activin receptor-like kinase 1 gene in childhood idiopathic pulmonary arterial hypertension

　WANG Ying, LI Mi, WU Xiaoyun, WU Lingyu, LIU Lingjuan, TIAN Jie

. 2018, 36(7):  497.  doi:10.3969/j.issn.1000-3606.2018.07.005

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Objective　To explore the relationship of mutations in activin receptor-like kinase 1 gene (ALK1) and bone morphogenetic protein receptorⅡgene (BMPR2) with childhood idiopathic pulmonary arterial hypertension (IPAH). Methods　The DNA sample from 14 pediatric patients diagnosed clinically of IPAH and some of their family members were collected. The promoters and exons of ALK1 and BMPR2 gene were directly sequenced by the next generation sequencing. The results were compared with the sequence of ALK1and BMPR2 gene in GenBank. The mutant genes were verified by first generation sequencing. One hundred and six healthy children were recruited as controls. Results　A missense mutation in exon 3 of ALK1 gene (c.77C>T:p.P26L) was detected in one female IPAH patient, which is a new mutation site after searching database of HMGD. A missense mutation in exon 11 of BMPR2 (c.1447T>C:p.C483R) was detected in a female patient, a missense mutation in exon 5 of BMPR2 (c.621+8T>C) was detected in a male patient’s mother, and a missense mutation in exon 10 of BMPR2 (c.1322G>A:p.G441E) was detected in a female patient’s mother. These 3 missense mutations had been reported. Conclusions　A missense mutation in exon 3 of ALK1 gene is first discovered in IPAH patient of Han nationality, which may be responsible for the development of IPAH.

Clinical characteristics and antimicrobial susceptibility analysis of chronic suppurative lung disease in children　

TIAN Xiaoyin, TANG Lin, ZHANG Qiyu, LI Qinyuan, ZHANG Guangli, XIE Xiaohong, LUO Jian, LUO Zhengxiu

. 2018, 36(7):  501.  doi:10.3969/j.issn.1000-3606.2018.07.006

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Objective　To explore the clinical characteristics and antimicrobial susceptibility of chronic suppurative lung disease in children. Method　The clinical data and the bacterial culture results of bronchoalveolar lavage fluid (BALF) of 26 children with chronic suppurative lung disease (CSLD) from January 2013 to December 2016 were retrospectively analyzed. Results　The average age of 26 children with CSLD was 18.3±18.4 months, and the duration of cough was 11.1±9.5 weeks. The middle/coarse wet rales can be heard in the lungs in 25 cases (96.2%), and wheezing rale in 22 cases (84.6%). Seventeen cases (65.4%) were clinically diagnosed of protracted pneumonia, 19 cases (73.1%) of airway dysplasia, and 7 cases (26.9%) of bronchial asthma. All the patients showed purulent endometritis under bronchoscopy, of whom 13 patients (50%) were complicated with airway dysplasia. Neutrophils were increased significantly in cell classification of BALF. The distribution of detected pathogens showed a predominance of Streptococcus pneumoniae (7 cases), followed by Escherichia coli (6 cases) and Haemophilus influenzae (5 cases). The rate of Streptococcus pneumoniae resistant to amoxicillin was relatively low (28.6%), and was sensitive to vancomycin, linezolid and levofloxacin. Escherichia coli and Haemophilus influenzae were completely resistant to ampicillin, and also had a serious resistance to piperacillin, while they were sensitive rather well to imipenem, meropenem, piperacillin tazobactam and amikacin. Conclusion　CSLD is more common in infants and young children and is easy to be misdiagnosed as protracted pneumonia, airway dysplasia and asthma. Streptococcus pneumoniae is the most common pathogen which has a low resistant rate to amoxicillin. The antibiotic resistance of Escherichia coli and Haemophilus influenzae was serious.

Incidence and lung function of bronchopulmonary dysplasia in premature infants with different gestational age

JI Ling, FENG Shuhua, YANG Yun, WANG Huijuan

. 2018, 36(7):  505.  doi:10.3969/j.issn.1000-3606.2018.07.007

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　Objective　To explore the incidence, risk factors and tidal breathing pulmonary function of bronchopulmonary dysplasia (BPD) in premature infants with different gestational age. Method　The incidence of BPD in preterm infants in recent 4 years was analyzed retrospectively. Tidal breathing pulmonary function was compared among mild, moderate and severe BPD. Results　In 8538 premature infants, BPD occurred in 355 infants (4.16%). The incidence rates of BPD in preterm infants with different gestational age were 33.91% (<28 weeks), 8.85% (28~32 weeks), 1.63% (32~34 weeks) and 0.31% (34~37 weeks) respectively. There were 243 cases of mild BPD, 51 cases of moderate BPD and 61 cases of severe BPD. There were statistically significant differences in the gestational age, birth weight, hospitalization time, oxygen inhalation time and mechanical ventilation time among children with different severity of BPD (all P<0.05). The peak time ratio (27.73±9.26、21.43±5.73、16.15±4.90), and peak volume ratio (27.13±5.09、22.30±2.65、18.54±3.76) in the analysis of tidal breathing and lung function were also significantly different among children with different severity of BPD (all P<0.01). Conclusion　The incidence of BPD is related to the gestational age. Children with BPD had different degrees of damage in tidal breathing pulmonary function, and the more severe BPD has the more obvious limitation of tidal breathing pulmonary function.

Clinical comparison of early-onset and late-onset sepsis caused by Escherichia coli

TAN Dongqiong, LI Luquan

. 2018, 36(7):  510.  doi:10.3969/j.issn.1000-3606.2018.07.008

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　Objective　To compare the clinical characteristics and drug susceptibility of neonatal early-onset sepsis (EOS) and late-onset sepsis (LOS) caused by Escherichia coli. Methods　The clinical data of 137 neonates with Escherichia coli septicemia from September 2000 to May 2017 were retrospectively analyzed. All neonates were divided into EOS group (onset within 72 hours after birth) and LOS group (onset over 72 hours after birth) according to the time of sepsis, and the clinical data of two groups were compared. Results　There were 74 cases in EOS group and 63 cases in LOS group. Compared with LOS group, infants in EOS group had higher incidence of premature rupture of membranes (21.6% vs. 7.9%), and was more likely to have coagulation dysfunction (39.2% vs. 17.5%), intracranial hemorrhage (37.8% vs. 19%), respiratory failure (29.7% vs. 14.3%), and hypoglycemia (16.2% vs. 4.8%). The differences were statistically significant (all P<0.05). There was no difference in sensitivity to third-generation cephalosporins, aminoglycosides, quinolones and carbapenems antibiotics between the two groups (all P>0.05). The rate of Escherichia coli resistant to ampicillin was up to 70%, and the rate to cephalosporins except ceftazidime was also high. While the rate of Escherichia coli sensitive to antibiotics containing β-lactamase inhibitors was 71.8%~90.7%, the rate to quinolones and aminoglycosides was over 70%, and the rate to carbopenems was up to 97%. Conclusion　Neonates with early-onset Escherichia coli sepsis had more complications than those with late-onset sepsis. There was no difference in drug sensitivity between early-onset and late-onset neonatal Escherichia coli sepsis. Antibiotics containing β-lactamase inhibitors should be the first choice in treatment of Escherichia coli sepsis, and carbapenems could be used if its efficacy is poor.

Clinical and pulmonary ultrasonographic findings in 1 case of neonatal congenital tuberculosis

XIAO Tiantian, YANG Sheng, GAO Shuqiang, JU Rong, JIN Mei

. 2018, 36(7):  514.  doi:10.3969/j.issn.1000-3606.2018.07.009

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Objective　To explore the clinical and pulmonary ultrasonographic characteristics of neonatal congenital pulmonary tuberculosis. Methods　The clinical and imaging data of a case of neonatal congenital pulmonary tuberculosis were retrospectively analyzed and related literature were reviewed. Results　A premature female infant with gestational age of 31+2 weeks suffered from progressive dyspnea, incorrigibility respiratory failure with hepatosplenomegaly, heart failure and leukocytosis 14 minutes after birth. Her mother was diagnosed with miliary tuberculosis 3 days after delivery, and acid-fast bacillus ++ was found by sputum smear acid-fast stain. Pulmonary ultrasonography showed hypo-echo consolidation area in both posterior lungs with multiple hyper-echo patches inside, twinkling with the respiration. Conclusion　Pulmonary tuberculosis can be diagnosed according to the clinical data and the history of the mother. Pulmonary ultrasonography can be used as a diagnostic reference.

Familial analysis of β-thalassemia in 11 children

YU Qinqin, ZHAO Xiaoming, SHENG Guangyao

. 2018, 36(7):  517.  doi:10.3969/j.issn.1000-3606.2018.07.010

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Objective　To explore the clinical characteristics of β-thalassemia in children in Henan. Method　The clinical data of 11 children with β-thalassemia in Henan and their family members were retrospectively analyzed. Results　In the 11 cases, there were 2 cases of HbE disease, 1 case of β-thalassemia minor combined with hereditary elliptocytosis, 1 case of β-thalassemia minor accompanied with iron deficiency anemia, and 7 cases of β-thalassemia minor. Hemoglobin electrophoresis was abnormal in all 11 children, including HbA2 and/or HbF elevation in 9 cases and HbE bands in 2 cases. A total of 3 types of beta gene mutations were detected, including 7 cases of IVS-II-654 (C>T) mutation, 2 cases of CD17 (A>T) and 2 cases of CD26 (G>A) mutations. In the 11 children, there were 6 children whose ancestral home was Henan and either of the parents of other 5 children was from the high incidence area of thalassemia. Conclusion　The β- thalassemia is a common single-gene hereditary disease, and beta gene mutations exist in Henan. Pedigree investigation, hemoglobin electrophoresis and hematology parameters contribute to diagnose and discover new cases.

The multilocus sequence typing and drug resistance characteristics of Salmonella in children with diarrhea

XU Fei, WANG Tingting, TAN Hua, LI Mei, JIN Yu, GUO Hongmei

. 2018, 36(7):  520.  doi:10.3969/j.issn.1000-3606.2018.07.011

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Objective　To explore the genetic phenotypes of Salmonella isolates in clinical specimens of children with diarrhea and to clarify the drug resistance characteristics of Salmonella. Method　Stool specimens were collected in diarrhea children from July 2014 to October 2015, and 43 strains of Salmonella were isolated. The target gene of 43 Salmonella strains was amplified and sequenced by multilocus sequence typing (MLST). The genetic clustering analysis was performed by eBURST method, and the genetic evolution of bacterial genes was analyzed by STAT2 software. The resistance of Salmonella strains to the commonly used antibiotics was tested. Results　MLST analysis showed that 43 strains of Salmonella could be divided into 17 sequence types (ST) and no new type was found, among which ST11 and ST34 were the dominant ST types, accounting for 32.56% and 23.26% respectively. The rates of 43 Salmonella strains resistant to amoxicillin/clavulanic acid, cefotaxime, ceftazidime and cefepime were 13.95%, 27.91%, 16.28% and 11.63% respectively. The strains resistant to piperacillin/tazobactam and imipenem were not found. Conclusion　ST11 and ST34 were the dominant clones of Salmonella strains isolated from these diarrhea children, which was resistant to three- or four- generation cephalosporins, while they were still sensitive to piperacillin/ tazobactam or imipenem.

The correlation between clinical and pathological features of Wilms tumor in children

　TANG Wen, CAI Rong, REN Gang, NI Jing, WANG Xinyun, HE Wenguang

. 2018, 36(7):  524.  doi:10.3969/j.issn.1000-3606.2018.07.012

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　Objective　To explore the correlation between clinical and pathological features of Wilms tumor in children. Method　The clinical and pathological data in 67 cases of pathologically confirmed Wilms tumor were retrospectively analyzed. Results　In the 67 children, 37 were male and 30 were female. The percentage of children with age at onset under 5 years is 86.6%. The clinical manifestations included abdominal mass in 25 cases (37.3%), hematuria in 17 cases (25.4%) and abdominal pain in 13 cases (19.4%). All the children had unilateral onset, and 64 cases (95.5%) had tumor diameter greater than 5 cm. Lymph node metastasis and distant metastasis were rare, 5 cases (7.5%) and 14 cases (24%) respectively. The common metastatic sites included lung, liver, etc. The children were pathologically divided into good prognosis tissue group (FH) and poor prognosis tissue structure (UFH) group, 63 cases (94.0%) and 4 cases (6.0%) respectively. There was no difference in age, sex, clinical manifestations, tumor location, tumor diameter, lymph node metastasis and distant metastasis, P53 positive rate and expression rate of Ki-67 ≥30% between FH group and UFH group (all P>0.05). There was no significant correlation among sex, age, tumor location, tumor diameter, histological type, lymph node metastasis, recurrence and metastasis (all P>0.05). The expression of Ki67 and P53 was significantly different between genders (all P<0.05). The tumor diameter and tumor location had no correlation with lymph node metastasis, recurrence, metastasis and Ki-67 expression in children (all P>0.05). The expression of P53 between different tumor diameters and between different tumor locations were statistically different (all P<0.05). Conclusion　Wilms tumor has some clinical and pathological characteristics such as large tumor size, unilateral, less invasiveness, better prognosis and more sensitive to preoperative radiotherapy and chemotherapy. Complete surgical resection combined with chemotherapy is the main treatment.

Clinical characteristics of hemophagocytic syndrome secondary to tsutsugamushi disease in children

KE Zhongling, FANG Xin, CHEN Yanhui

. 2018, 36(7):  529.  doi:10.3969/j.issn.1000-3606.2018.07.013

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Objective　To explore the clinical features of haemophagocytic syndrome secondary to tsutsugamushi disease in children. Method　The clinical data of a child with hemophagocytic syndrome secondary to tsutsugamushi disease were retrospectively analyzed. Domestic and foreign periodical databases were searched, and the clinical data of hemophagocytic syndrome secondary to tsutsugamushi disease in 32 children were collected and analyzed. Results　A 9-month-old girl was admitted due to fever of unknown origin for 9 days with an episode of seizure. She was diagnosed of hemophagocytic syndrome secondary to tsutsugamushi disease 3 days after admission because 5 clinical symptoms including fever, splenomegaly, hematocytopenia, serum ferritin elevation, hypofibrinogenemia or hyperlipemia were among the HLH-2004 diagnosis criteria (8 items), together with its characteristic eschar and positive antibodies of scrub typhus. The body temperature dropped to normal 3 days after anti-infection treatment with azithromycin and all the indicators were gradually improved. In the search, a total of 32 patients (excluding this child) with hemophagocytic syndrome secondary to tsutsugamushi disease were retrieved, all of whom were Asians, 16 males and 16 females, aged from 2 months to 11 years. Eschar was found in 24 cases, splenomegaly in 30 cases, and decreased serum albumin in 30 cases. Decreased blood cells and elevated serum ferritin levels were observed in almost all of the children. Thirty-one children were misdiagnosed at first. Twenty-seven children were treated with appropriate antibiotics, 16 with a combination of gamma globulin, 21 with corticosteroids, and only 1 with etoposide chemotherapy. Most children no longer had a fever after treatment from 24 hours to 4 days, and 5 died. Conclusion　The hemophagocytic syndrome secondary to tsutsugamushi disease is often accompanied by a decrease in albumin and requires appropriate antibiotic and immunomodulatory treatment, and most of the patients have good prognosis.

Clinical characteristics and gene mutation analysis of chronic granulomatous disease caused by NCF2 in children

　 LIU Min, SU Jun, WANG Qi

. 2018, 36(7):  533.  doi:10.3969/j.issn.1000-3606.2018.07.014

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　Objective　To explore the clinical characteristics and gene analysis of chronic granuloma caused by NCF2 gene mutation in children. Method　The clinical data and gene detection results of one child who was diagnosed with chronic granulomatosis due to multiple nodules in the lungs were analyzed retrospectively, and the related literature were reviewed. Results　The female baby was found to have multiple round nodules in her lungs by chest CT due to respiratory infection symptoms 20 days after birth. Neutrophil activation and stimulation test showed no activation of granulocyte. Gene sequencing showed homozygous mutation of NCF2 gene, c.233G>A; p. (Gly78Glu). And the diagnosis of chronic granulomatosis was made. Conclusion　For children who had recurrent infection and multiple pulmonary nodules without obvious inducements, and normal levels of immunoglobulin and lymphocyte subsets, chronic granuloma should be considered. Neutrophil activation and stimulation test is helpful for diagnosis, and the final diagnosis depends on gene detection.

Clinical diagnosis of progressive pseudorheumatoid dysplasia in 5 cases and a report of novel WISP3 gene mutation

　MAO Youying, ZHOU Wei, JIN Yanliang, WANG Jian, SHEN Yongnian, ZHOU Yunfang, GU Longjun, YING Daming,YIN Lei

. 2018, 36(7):  537.  doi:10.3969/j.issn.1000-3606.2018.07.015

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Objective　To explore the early diagnosis of progressive pseudorheumatoid dysplasia (PPRD). Method　The clinical data and gene detection results of PPRD in 5 children were reviewed. Results　In 5 children (1 boy, 4 girls), the age at onset was 3~5 years and at the time of diagnosis was 8~12 years. All of them suffered from interphalangeal joint enlargement. One had gait abnormality and 4 had claudication. All patients had joint pain and limited activity during the course of the disease. However, the inflammatory markers were all normal in 5 patients. The X-ray examination showed the metaphysis of the finger joint was swollen and the bone density was reduced. The anterior segment of the spine became flattened and the part of the intervertebral space was narrowed. In one case, the vertebral body presented a warhead-like change. All of the five cases had WISP3 gene mutation. One case had homozygous mutation of c.397_404del CAAGTGTT, 2 cases had complex heterozygous mutations (NM_19829.1:c.700T>C, p.Trp234Arg from mother; NM_19829.1:c.1054T>C, p.Ser352Pro from father), and another 2 cases had complex heterozygosity mutations (c.589+2T>C from mother, c.667T>G; p.Cys223Gly from father). Except for c.667T>G and c.589+2T>C, the remaining 3 were unreported new mutations. Conclusion　The clinical features of PPRD are non-inflammatory expansion of multiple joints and dyskinesia. The radiological features included enlargement of articular epiphysis, abnormal development and progressive platyspondyly. Based on clinical characteristics and typical changes of radiology, combined with WISP3 gene detection, definite diagnosis can be made. The study also identified 3 new mutations in the WISP3 gene.

Diagnostic value of second generation sequencing for central axis disease: a case report

LIU Jie, LIU LI, HE Yingzhong, WANG Jiwen

. 2018, 36(7):  541.  doi:10.3969/j.issn.1000-3606.2018.07.016

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Objectives　To explore the value of second generation sequencing in the diagnosis of central core disease (CCD). Methods　The clinical data and the results of detection of pathogenic genes by multiplex linked probe amplification and second generation sequencing in one CCD patient were retrospectively analyzed. Results　A 3-year-old girl presented slowly progressive walking difficulty, developmental retardation, facial myasthenia and congenital dislocation of hip joint. His parents had no similar clinical manifestations. Physical examination showed scoliosis, varying degrees of reduction in proximal muscle tension and muscle strength, muscle volume reduction and tendon reflex weakening, while pathological signs were negative. The patient's creatine kinase was slightly elevated and electromyography was normal. There was a novel missense mutation of c.14582G>A, p.Arg4861His (heterozygous) in the RYR1 gene detected by second generation sequencing method. The Alamut functional software predicted that the mutation could affect the structure and functions of the protein, and was highly related to CCD. Conclusion　The RYR1 gene mutation of c.14582G>A, p.Arg4861His is first reported in China. The second generation sequencing method can be used for the confirmation of diagnosis of suspected CCD.

Chromosome fragment 1q24.3-q25.3 deletion: a case report and literature review

　WANG Yirou, LI Qun, LI Xin, CHENTG Qing, LI Juan, WANG Jian, SHEN Yiping, WANG Xiumin, SHEN Yongnian

. 2018, 36(7):  545.  doi:10.3969/j.issn.1000-3606.2018.07.017

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　Objective　To investigate the clinical features and genetic characteristics of deletions of the long-arm of chromosome 1 which is rare seen clinically. Methods　The clinical data from one child with chromosome 1 deletion who is severely dwarf and has development delay were analyzed, and relevant literatures were reviewed. Results　Three-year-old boy had intrauterine growth retardation, postnatal growth restriction and special face, with multiple malformations (short finger, wide finger, small head deformity, etc.), cryptorchidism, small penis, language retardation. Chromosomal microarray analysis results demonstrated a 14615 kb heterozygous deletion in 1q24.3-1q25.3. Conclusions　The 14615 kb heterozygous deletion in 1q24.31q25.3 is the pathogenic factor in this child.

Meta-analysis of the correlation between MTHFR C677T gene polymorphism and tetralogy of Fallot in children

　HUANG Juanjuan, ZHANG Liping, LI Hua, YUE Hongyun, ZHANG Juan

. 2018, 36(7):  549.  doi:10.3969/j.issn.1000-3606.2018.07.018

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Objective　To explore the correlation between 5,10- methylenetetrahydrofolate reductase (MTHFR) gene polymorphism (C677T) and tetralogy of Fallot in children. Method　PubMed, China National Knowledge Infrastructure, Wanfang and VIP databases were searched. A comparative study of MTHFR gene polymorphism (C677T) and tetralogy of Fallot in children published before July 2017 were collected. According to the inclusion and exclusion criteria, the documents which did not meet the requirements were excluded. After having Hardy-Weinberg genetic balance test, meta-analysis was performed and sequential test analysis (TSA) was used to test the results. Results　A total of 7 articles were included, including 1222 cases of tetralogy of Fallot and 1443 of controls. The results of meta analysis showed that the total OR value of the MTHFR gene polymorphism (C677T) allele model (T to C) was 1.63 with 95% CI of 1.41~1.88. The total OR value of the dominant gene model (TT+TC to CC) was 1.67 with 95% CI of 1.34~2.10. The total OR value of the recessive gene model (TT to TC+CC) was 2.08 with 95% CI of 1.64~2.63. The total OR value of the co-dominant heterozygote gene model (TC to CC) was 1.36 with 95% CI of 1.07~1.74. The total OR value of the co-dominant homozygote gene model (TT to CC) was 2.56 with 95% CI of 1.92~3.41. Conclusion　The MTHFR C677T gene polymorphic loci can increase the risk of tetralogy of Fallot.

Current state and precision management of neonatal continuous renal replacement therapy

CAI Cheng, QIU Gang, GONG Xiaohui, YAN Chongbing

. 2018, 36(7):  553.  doi:10.3969/j.issn.1000-3606.2018.07.019

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　Neonatal acute kidney injury (AKI) is more likely developed in preterm and very low birth weight infants. The incidence of AKI is increasing year by year in the neonatal intensive care unit. Due to the lack of effective prevention and control measures, the mortality rate is extremely high and the prognosis is very poor. Continuous renal replacement therapy (CRRT) is currently the ideal method for the treatment of neonatal AKI. At present, CRRT technology has been used in newborns both at home and abroad for more than 30 years. Although considerable treatment experience has been accumulated, a large number of problems remain to be solved. This article reviews the present state and precision management of CRRT in neonates.

Progress in research of acute T lymphoblastic leukemia in children

WAN Yuanyuan

. 2018, 36(7):  557.  doi:10.3969/j.issn.1000-3606.2018.07.020

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　Compared with acute B lymphoblastic leukemia (B-ALL) in children, the prognosis of T-ALL in children is poorer. It is easier to induce chemotherapy failure and recur early than B-ALL.If recur,T-ALL is difficult to relieve again. In recent years, the prognosis of children with T-ALL has improved.The 5-year event-free survival rate (EFS) reported by some foreign research centers can reach 85%.But most of the research centers remain at around 60%. Understanding the progress of T-ALL is particularly important for the diagnosis and treatment of the disease.The article reviews the progress of T-ALL treatment and prognosis in children,and also reviews the characteristics of T-ALL immunology, molecular biology and cytogenetics.