Table of Content

15 April 2018 Volume 36 Issue 4

  

Analysis of clinical phenotypes and genotypes of Duchenne muscular dystrophy stemma in 30 cases

YANG Ying, HOU Ling, LIU Yan

. 2018, 36(4):  241.  doi:10.3969/j.issn.1000-3606.2018.04.001

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Objective　To explore the clinical characteristics, types, and distribution of gene mutation in Duchenne muscular dystrophy (DMD). Method　The clinical and gene testing data of DMD in 30 children from August 2015 to April 2017 were retrospectively analyzed. Results　30 cases of DMD precursor were all male, and the median age at the onset was 4 years (0.17~9.5 years), and the median age at diagnosis was 5.2 years (0.25~10 years). Among them, 4 cases (13.3%) had family history, and 7 cases (23.3%) had been misdiagnosed. All the children had insidious onset and markedly elevated creatine kinase (18.6~230.0 times the upper limit of normal). Electromyography was performed in 9 cases, suggesting myogenic damage. Muscle biopsy was performed in one case, and the pathological changes were consistent with DMD. DMD gene was detected in all 30 cases, and the rate of abnormal detection was 100%. Gene deletion mutations were found in 17 cases (56.7%), point mutations in 9 cases (30%), and duplications in 4 cases (13.3%). Deletion mutations were most common in exons 48, 49, and 50. The point mutations in 5 cases have not been reported in literature. Duplications were seen in large fragment of exon, including 7~19 exons. DMD gene detection was also performed in 49 family members. Among them, 1 grandfather, 1 elder brother and 3 younger brothers had the same results as propositus who were confirmed DMD. Furthermore, 21 family members carried the same mutation gene as the propositus, including 19 mothers and 2 sisters. Conclusion　For the male children with unexplained significantly elevation of muscle enzymes, clinicians should be highly vigilant about possibility of DMD,  and electromyography, muscle biopsy and gene diagnosis should be detected early.

Ring chromosome 6 causing concealed penis: a case report and literature review

HE Xuelian, ZHAO Peiwei, HUANG Yufeng, CAI Xiaonan, LIN Jun, HU Xijiang, BI Bo

. 2018, 36(4):  245.  doi:10.3969/j.issn.1000-3606.2018.04.002

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Objective　To explore the relationship between the missing fragments in ring chromosome 6 and the clinical phenotype. Method　A male patient with concealed penis was reported. The relationship between the location of missing fragments and the clinical phenotypes was analyzed by routine chromosome karyotype and genome-wide chromosome microarray technology. Meanwhile, the literature was reviewed. Results　The patient was diagnosed of a ring chromosome 6 by karyotype analysis. Genome chromosome microarray detection showed that there were defects in both the short arm and the end of the long arm of chromosome 6, del6p25.3p25.1.seq[GRCh37/hg39]（204909-4210858）×1, del6q27.seq[GRCh37/hg39] （170438227-170898549）×1. A 4.01 Mb deletion was found in short arm P25 region, involving 30 genes such as DUSP22, IRF4, EXOC2, HUS1B, LOC285768, FOXQ1, FOXF2 and FOXC1, while another 0.46 Mb deletion was found in the long arm 6q27 region, involving 7 genes such as LOC154449, DLL1, FAM120B, PSMB1, TBP and PDCD2. According to analysis of the results in the patient and literature review, we found that all the patients suffered from neurological or developmental disorders, but external genital anomaly was seen in only two patients, including this patient. Conclusion The different clinical phenotypes in patients with a ring chromosome 6 are closely associated with the location and size of deletion and instability of ring chromosome.

Clinical and PLA2G6 gene mutations analysis of infantile neuroaxonal dystrophy in one child

　MA Xiuwei, ZHU Lina, GU Ruijie, HOU Yu, FENG Zhichun

. 2018, 36(4):  252.  doi:10.3969/j.issn.1000-3606.2018.04.004

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Objective　To explore the clinical and PLA2G6 gene mutation characteristics of the infantile neuroaxonal dystrophy (INAD). Method　The clinical data of INAD diagnosed by gene detection were reviewed and analyzed. Results　A male child aged 1 year and 9 months had the main clinical manifestations of psychomotor retrogression, muscular dystonia, and positive pathological signs. Electromyography showed neurogenic damage. No abnormality was found in MRI at the age of one year. However, cerebellar atrophy was found by MRI at the age of 1 year and 9 months. Target sequence and second generation sequencing revealed that two heterozygous mutations, c.1933C>T and c.911T>C, in the exon region of PLA2G6 gene,  caused amino acid changes of p.R645X and p.L304P, respectively. The results of Sanger sequencing showed that 2 mutations were derived from mother and father and are compound heterozygous mutation. The c.1933C>T site has been reported to be a pathogenic mutation, while c.911T>C is first reported and has not been detected in the normal population. Conclusion The two generation sequencing technology can accurately detect PLA2G6 gene mutation and thus can be used as the first choice for diagnosis of INAD. This report has expanded the gene mutation spectrum of Chinese INAD patients.

Analysis of the relationship between gene mutation spectrum and clinical phenotype in 21 hydroxylase deficiency with I2G mutation in children

　WANG Huizhen, WEI Haiyan, SHEN Linghua, YANG Haihua, CHEN Yongxing, WU Shengnan, WANG Xiaohong

. 2018, 36(4):  256.  doi:10.3969/j.issn.1000-3606.2018.04.005

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　Objective　To explore the gene mutation spectrum of 21 hydroxylase deficiency (21-OHD) with I2G gene mutation in children, and to analyze the relationship between genotypes and clinical phenotypes. Method　The clinical data of 21-OHD children with I2G gene mutation during 2009-2016 were collected, and the relationship between genotypes and clinical phenotypes was analyzed. Results　In 26 cases (20 males and 5 females), there were 22 cases (84.62%) of salt wasting patients (SW) and 4 cases (15.38%) of simple virilization patients (SV). There were 16 cases of I2G homozygous mutation (61.5%), in which, except that one patient was SV, the other 15 patients all showed SW. There were 10 cases of complex heterozygosity mutation (38.5%), of which 7 cases were SW, carrying p.Q319X, p.R357W, p.R484P, p.V282L, Gll0fs, ClusterE6 mutation respectively. One SV girl carried p.I172N mutation gene. The other 2 SV boys (sibling Brothers) carried p.Q319X mutation gene and there were repeats on paternal allele while there was I2G heterozygous mutation on the maternal allele. Conclusion　The genotype of 21-OHD children with I2G mutation is in good agreement with clinical phenotype, and mostly homozygous mutation is SW. The clinical manifestation of compound heterozygous mutation is mainly determined by the mutant gene with less damage of enzyme activity.

Dopa-responsive dystonia induced by complex heterozygous mutation of TH gene: a case report

　ZHENG Jie, FANG Xin, CHEN Yanhui

. 2018, 36(4):  261.  doi:10.3969/j.issn.1000-3606.2018.04.006

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　Objective　To explore the diagnosis and treatment of dopa-responsive dystonia induced by tyrosine hydroxylase deficiency. Method　The clinical manifestations, treatment, follow-up and gene test results of dopa-responsive- dystonia in a child was reviewed and analyzed. Results　A boy aged 2 years and 4 months had language and motor development retrogression and reduction of muscle tension in extremities. Gene mutation analysis showed two heterozygous pathogenic mutations, c.457>T, P.(Arg153*) in TH exon 4 which was inherited from father and c.739G>A, P.(Gly247Ser) in TH exon 7 which was inherited from mother. Thus, the boy was confirmly diagnosed with dopa-responsive dystonia caused by a mutation in the tyrosine hydroxylase gene. This patient had no significant improvement of symptoms with levodopa treatment, and has satisfactory curative effect after treated with benserazide. Conclusion　For unexplained dystonia, especially accompanied by damage to the extrapyramidal tract which is marked by the impairment of motor function with the onset in infancy, doparesponsive dystonia caused by tyrosine hydroxylase deficiency should be suspected. Gene detection is helpful in diagnosis, and benserazide had better effect than that of levodopa for treatment.

Coffin-Lowry syndrome: a case report and literature review

　ZHANG Liyi,CAO Yuhong, ZHANG Guangyun, CAO Kaifang

. 2018, 36(4):  265.  doi:10.3969/j.issn.1000-3606.2018.04.007

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　Objective　To explore the clinical characteristics of Coffin-Lowry syndrome. Method　The clinical data and genetic testing of Coffin-Lowry syndrome in a child were retrospectively analyzed, and pertinent literature was reviewed. Results　A boy aged 4 years and 3 months visited for mental retardation. The child have special face such as microcephaly, prominent forehead, hypertelorism, downward sloping palpebral fissures, a flat nasal bridge, a wide mouth with full lips and enamel dysplasia, large ears,  and puffy tapered fingers. Genomic sequencing and bioinformatics analysis showed that exon 5 of RPS6KA3 gene has a hemizygous mutant c.340C>T (cytosine > thymine) which caused the changes in amino acid p.Arg114Trp (arginine > tryptophan), and the diagnosis of Coffin-Lowry syndrome was confirmed. Conclusion　Children with Coffin-Lowry syndrome have mental retardation and special facial features, and gene detection helps early diagnosis.

Changes and significance of IL-17 and IL-35 levels in bronchial asthma in children

　YAN Minna, XIANG Baoli, ZHANG Suzhen, ZHOU Sutao, XU Yuhuan

. 2018, 36(4):  268.  doi:10.3969/j.issn.1000-3606.2018.04.008

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Objective　To explore the relationship between the levels of IL-17 and IL-35 in peripheral blood and progression of bronchial asthma in children and the significance of their detection. Method　A total of 65 hospitalized children with acute exacerbation of bronchial asthma from May 2016 to May 2017 were selected as the research object. According to the severity of the disease, those children were divided into intermittent asthma, mild persistent asthma, moderate persistent asthma and severe persistent asthma groups. At the same time, 20 healthy children were taken as the control group. The serum levels of IL-17 and IL-35 were detected by enzyme-linked immunosorbent assay (ELISA), and the statistical analysis was performed. Results　The IL-17 level in asthma group (49.9±12.5 pg/mL) was higher than that in control group (34.7±7.2 pg/mL), and there was significant difference (P<0.05). The level of IL-17 increased with the severity of asthma, and was negatively correlated with lung function indexes of FEV1, FVC, and FEV1/FVC (P<0.05). The IL-35 level in asthma group (171.2±18.8 pg/mL) was lower than that of control group (264.2±33.7 pg/mL), and there was significant difference (P<0.05). The level of IL-35 decreased with the increase of the severity of asthma, and was positively correlated with the index of lung function (P<0.05). When IL-17>42.6 pg/mL and IL-35<205.8 pg/mL are chosen as cut-off values respectively, both of them can achieve high diagnostic values in sensitivity, specificity, accuracy, positive predictive value, negative predictive value and area under the curve (AUC). Combination of both can further improve the diagnostic value. Conclusion　The levels of L-17 and IL-35 in serum of children with asthma can be used as a reference for assessing the severity of disease, and may be a good biomarker for the diagnosis of childhood asthma.

The outcome of recurrent wheezing and the risk factors of its different phenotypes in young children

WANG Huimin, ZHU Wenjing, LIU Chuanhe, MA Hongmei, TIAN Chunyu, Shao Mingjun, Yan Yongdong, Chen Yuzhi

. 2018, 36(4):  272.  doi:10.3969/j.issn.1000-3606.2018.04.009

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　Objective　To explore the outcome of recurrent wheezing and the risk factors of its different phenotypes in young children. Method　The children under 5 years old with recurrent wheezing were included from October 2013 to May 2014, and a telephone follow-up was made after 3 years. The incidence of wheezing, rhinitis, eczema and the history of parents' asthma were investigated since the children were enrolled. According to the age at onset and relief of wheezing, the children investigated were divided into transient wheezing group, persistent wheezing group and late-onset wheezing group. The difference of birth history, rhinitis, eczema, parental asthma history, allergy related index and wheezing onset age among three groups were compared. Results In 100 children, 85 children (66 boys and 19 girls) finished a telephone follow-up and  the average age was (6.82±1.20) years at follow-up. The onset age of transient wheezing group (14 children) was lower than that in persistent wheezing group (54 children) and late-onset wheezing group (17 children), and there were statistical differences (P<0.05). the number of wheezing in three groups was significantly reduced in the past year, as compared with the number when they were enrolled, and there were statistical differences (P<0.05). The incidence of rhinitis in past year was significantly different among three groups, the incidence being higher in persistent and late-onset wheezing groups being . The total serum IgE, the positive rate of inhaled allergens and the percentage of eosinophils (EOS) in peripheral blood increased across groups  with upward trend in transient, persistent and late-onset wheezing, and there were statistical differences (P<0.05). Conclusion　The frequency of onset of wheezing was significantly reduced over age in young children, and the outcome of the wheezing was significantly related to allergies, rhinitis, and age at onset.

Clinical analysis of transesophageal atrial pacing in the diagnosis and treatment of rapid arrhythmia in infants

XU Meng, WANG Jianyi, XIAO Tingting, XIE Lijian, LI Yun, HUANG Min

. 2018, 36(4):  277.  doi:10.3969/j.issn.1000-3606.2018.04.010

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　Objective　To explore the efficacy of transesophageal atrial pacing (TEAP) in the diagnosis and treatment for infants with tachyarrhythmia. Method　The clinical data of 86 children with tachyarrhythmia under 3 years old who were treated with TEAP after ineffective drug treatment from January 2005 to December 2016 were retrospectively analyzed. Diagnosed by surface and esophageal electrocardiogram, there were 54 cases of paroxysmal supraventricular tachycardia (PSVT), 26 cases of atrial flutter (AF), 3 cases of atrial tachycardia (AT), 1 case of sinus tachycardia with Ⅰ° atrioventricular block (AVB), 1 case of junctional ectopic tachycardia and 1 case of idiopathic ventricular tachycardia (IVT). PSVT and AF children were divided into single treatment group and multiple treatment group (≥2 times) according to the times of TEAP treatment, and the differences were compared. Results　In the 86 cases (49 males and 37 females)  median age was 56 d (16.75~250.00 d). Except one case of PSVT who was proved to be sinus tachycardia withⅠ°-AVB by TEAP, 66 cases in 85 cases were successfully terminated by overspeed inhibition and the total success rate was 77.6%. The successful conversion rate was 90.7% in PSVT and 57.7% in AF. One AT and one IVT were converted to sinus rhythms successfully. In children with PSVT and AF, there was no significant difference in age, sex, ventricular rate and the proportion of underlying diseases between single treatment group and multiple treatment group (P>0.05). PSVT with cardiac insufficiency accounted for 18.5% (10/54), and AF with cardiac insufficiency accounted for 30.8% (8/26). There was no significant correlation between the successful rate of conversion and cardiac insufficiency in PSVT and AF children (P>0.05). Conclusion　TEAP is an accurate and reliable diagnosis of infant fast arrhythmia, and is an effective method for emergent and rapid termination of drug-refractory PSVT, especially for patients with cardiac insufficiency.

Study on the frequency distribution of ABCA3 gene polymorphism in neonatal respiratory distress syndrome in Han nationality

ZHANG Yuheng, WANG Xiaolei, MEI Hua, ZHANG Yanbo, CAO Xioamei

. 2018, 36(4):  282.  doi:10.3969/j.issn.1000-3606.2018.04.011

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　Objective　To explore the correlation between the polymorphism of exon 10 (ABCA3 exon10) in gene of ABCA3 and the incidence of respiratory distress syndrome (NRDS) in the Han nationality in Western Inner Mongolia. Method　Fiftythree Han children with NRDS hospitalized from September 2014 to September 2016 were selected as case group. At the same time, 53 Han children without NRDS in the same area were served as control group. The DNA in both groups was extracted and polymerase chain reaction (PCR) was used to amplify ABCA3 exon10, and the amplified products were directly sequenced and the results were analyzed. Results　At the rs13332514 (F353F) site of exon 10 of ABCA3, there was a single base point mutation C>T, the codon was changed from TTC to TTT, and the amino acid at the 353rd coding site did not change. There was a point mutation in both the case group and the control group, and the variation rate of the case group was 30.2%, which was higher than that of the control group (13.2%), and there was significant difference (P<0.05). In NRDS group, 3 genotypes (CC, CT and TT) were detected at ABCA3 exon10 rs13332514 (F353F) loci, the frequencies were 69.8%, 20.8% and 9.4%, respectively. The allele frequency of C was 80.2%, and the frequency of T allele was 19.8%. In the control group, 2 genotypes (CC and CT) were detected, the frequency was 86.8% and 13.2%, and the allele frequency of C was 93.4%, and the frequency of T allele was 6.6%. The frequency of T allele in the case group was higher than that in the control group, and there was significant difference (P<0.05). Conclusion　There is a single base point mutation C>T in the rs13332514 (F353F) locus of ABCA3 exon10. The mutation of this site may be related to the pathogenesis of NRDS in the Han nationality in Western Inner Mongolia. Allele T may increase the susceptibility of NRDS.

Clinical analysis of Gianotti-Crosti syndrome in 55 cases

　SHU Ye, LUO Yangyang, LUO Yongqi, TANG Jinling, ZHOU Bin, ZENG Yinghong, TANG Jianping

. 2018, 36(4):  288.  doi:10.3969/j.issn.1000-3606.2018.04.012

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Objective　To explore the clinical characteristics of Gianotti-Crosti syndrome. Method　The clinical data of Gianotti-Crosti syndrome in 55 children were retrospectively analyzed, and the relevant literature was reviewed. Results　In 55 children (39 boys and 16 girls) diagnosed with Gianotti-Crosti syndrome, an average age was (2.0±0.5) years. EB virus was the most common pathogen, followed by herpes simplex virus, and no hepatitis B virus infection was found. Skin lesions were characterized by symmetrical distribution of erythematous papules on the extensor side of extremities, cheek, and buttocks. All of them received the treatment of antiviral, anti-inflammatory, anti-allergic and topical medication,  and it was effective after 2 weeks of the treatments. The cure rate was 74.5%. Conclusion　The most important onset factor of Gianotti-Crosti syndrome is virus infection, and skin lesion is characterized and the prognosis is good.

Henoch-Schönlein purpura nephritis complicated by posterior reversible leukoencephalopathy syndrome: a report of two cases

　GUO Qingyin, WANG Yizhen, DING Ying, ZHAI Wensheng, SONG Chundong, LU Jingjing

. 2018, 36(4):  291.  doi:10.3969/j.issn.1000-3606.2018.04.013

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　Objectives　To explore the pathogenesis, diagnosis, treatment and prognosis of children with Henoch-Schönlein purpura nephritis (HSPN) complicated by posterior reversible leukoencephalopathy syndrome (PRLS). Method　The clinical data of 2 children with HSPN complicated by PRLS were retrospectively analyzed, and the related literature was reviewed. Results　Two boys aged 8 years and 14 years were given hormone, immunosuppressant, gamma globulin, plasma and albumin because of obvious edema and proteinuria. Seizures and loss of consciousness occurred during the course of the disease. MRI showed multiple abnormal signals in frontal lobe, parietal lobe and occipital lobe. The seizure stopped and consciousness recovered after treatment of controlling convulsion and decreasing intracranial pressure, and MRI abnormal signal was also significantly improved. Conclusion　Clinicians should be vigilant about PRLS during the treatment of HSPN.

The effect and mechanism of PGE-1 on hyperoxic lung injury in neonatal rats

　YANG Zhenling, ZHANG Youchen, JIN Zhengyong

. 2018, 36(4):  295.  doi:10.3969/j.issn.1000-3606.2018.04.014

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Objective　To explore hypodermic injection of prostaglandin E1 (PGE-1) for the treatment of hyperoxic lung injury and mechanism in neonatal rats. Method　A total of 45 newborn Wistar rats were randomly divided into control group, hyperoxic lung injury model group and hyperoxic lung injury + PGE-1 group 15 rats each. The rats in hyperoxia lung injury model group and hyperoxia lung injury group + PDE1 were exposed to >85% concentration of oxygen in the experimental cabin, and the control group was placed in the air under the same pressure. In control group and hyperoxia lung injury model group, 0.9% sodium chloride was injected subcutaneously from first day after birth, and hyperoxia lung injury + PGE-1 group was injected with PGE-1 at 2 μg/(kg·d) for 7 days. The lung dry/wet weight ratio was calculated and the total number of leukocytes in bronchoalveolar lavage fluid (BALF) was counted. The morphological changes of bronchi and alveoli were observed by HE staining. The apoptosis of lung tissue was observed by nuclear staining and TUNEL, and the expression of GRP78 and CHOP protein in lung tissue was detected by Western blotting. Results　There were significant differences in lung dry/wet weight ratio, BALF leukocyte count, apoptosis index, GRP78 and CHOP protein expression among control group, hyperoxia lung injury model group and hyperoxia lung injury group + PGE-1 (P<0.001). In the hyperoxic lung injury model group, the indexes mentioned above were the highest, followed by hyperoxic lung injury + PGE-1 group and control group, and there were significant differences between groups (P<0.05). The lung tissue pathological observation in hyperoxia lung injury model group showed the alveolar enlargement and fusion, interstitial cell edema, and fibrous exudation. The degree in pathological changes in hyperoxia lung injury group + PGE-1 were in the middle of the hyperoxic lung injury model group and control group. Conclusion　Subcutaneous injection of PGE-1 has a therapeutic effect on hyperoxic lung injury in neonatal rats. The mechanism may be related to the inhibition of the expression of CHOP and GRP78 protein.

Meta-analysis of the correlation between the blood trough concentration of vancomycin and the clinical outcome in children

　CAO Lu, XUE Xuecai, WEN Aidong, YU Feng

. 2018, 36(4):  299.  doi:10.3969/j.issn.1000-3606.2018.04.015

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　Objective　A meta-analysis method was used to evaluate the relationship between serum vancomycin trough concentration and its clinical efficacy and safety in children. Method　Database of PubMed, ELSEVIER, Web of Science, Medline, Clinicaltrials.gov, Cochrane Library, CBM, CNKI, and Wanfang were searched. And research data of vancomycin in the treatment of infective diseases in children were collected. Cochrane system was used to evaluate the quality of the included literature, and the feature information was extracted and meta-analysis was carried out. Outcomes include clinical efficiency, the incidence of renal toxicity, liver toxicity and ototoxicity, and the fatality rate. Results　A total of 20 articles were included, containing 3204 children treated with vancomycin. The results of meta-analysis showed that there were higher clinical efficiency (OR=2.59, 95% CI:1.33~5.05, P<0.05), higher incidence of renal toxicity (OR=3.63, 95% CI:2.31~5.7, P<0.05), higher incidence of ototoxicity (OR=2.43, 95% CI:1.25~4.72, P<0.05), and higher mortality (OR=2.41, 95% CI:1.13~5.14, P<0.05) in the trough concentration>10 μg/mL group than in vancomycin trough concentrations ≤10 μg/mL. The vancomycin trough concentrations were not related to hepatotoxicity. Subgroup analysis showed that children with trough concentration >15 μg/mL had higher renal adverse reaction (OR=2.54, 95% CI:1.59~4.08, P<0.05) than those with vancomycin trough concentrations at 10~15 g/mL, and there was no significant difference in clinical efficacy (OR=0.59, 95% CI:0.17~2.03, P>0.05). Conclusion Vancomycin trough concentration ≤10 μg/mL has poor clinical efficacy with low incidence rate of adverse reaction. Trough concentration >15 μg/ mL has a higher incidence of adverse reaction, and the effect of clinical treatment is equal to that of trough concentration 10~15 g/mL. Therefore, the trough concentration of 10~15 μg/mL is suitable.

Progress in the diagnosis and treatment of necrotizing pneumonia in children

FEI Wenyi, LUO Jian

. 2018, 36(4):  306.  doi:10.3969/j.issn.1000-3606.2018.04.016

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　Necrotizing pneumonia is a rare but serious complication of community-acquired pneumonia. It is the result of the joint action of pathogenic microorganism and immune disorder. The incidence rate increased gradually in recent years. Necrotizing pneumonia is characterized by the destruction of the parenchyma structure of the lung and the formation of cavity in the liquefied necrosis, and the infection of various pathogens can lead to necrotic pneumonia in children. The main reponsible bacteria are Streptococcus pneumoniae and Staphylococcus aureus in foreign reports, and are Mycoplasma pneumoniae in our country. The necrotizing pneumonia in children is more severe and progresses more rapid, has longer course and more complications than common pneumonia. The diagnosis depends on the CT. In addition of antibiotic treatment, combination of glucocorticoid, gamma globulin and bronchoalveolar lavage was used, and most of the children have good prognosis.

Progress in diagnosis and treatment of arterial thrombosis of extremities in newborn

WANG Danhong

. 2018, 36(4):  311.  doi:10.3969/j.issn.1000-3606.2018.04.017

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　Because of the characteristics of the coagulation system and operation for diagnosis and treatment in newborn, arterial thrombosis is easily formed, especially in the limbs. If a newborn's arterial thrombosis is not intervened in time, it may lead to amputation, or even become a threat to life. Thus, early detection and diagnosis have a great impact on the prognosis. Here, we review the diagnosis and treatment of arterial thrombosis in the limbs of the newborn.