Journal of Clinical Pediatrics

Association between IL-17F gene polymorphism and susceptibility to asthma in children

SHAO Qi, YU Zhiwei, LI Tianyu, et al

Journal of Clinical Pediatrics. 2019, 37(6): 401. doi:10.3969/j.issn.1000-3606.2019.06.001

Abstract ( 294 )

PDF (1145KB) ( 211 )

Related Articles | Metrics

　Objective　To explore the relationship of IL-17F gene polymorphism with asthma susceptibility and IL-17F level. Method　The single nucleotide polymorphisms of rs763780 and rs1889570 in IL-17F gene were determined in 133 asthma children and 114 control children, and the correlation among the polymorphisms and the susceptibility and peripheral blood IL17 level in children with bronchial asthma were analyzed. Results　The frequency of alleles and genotypes in rs1889570 were significantly different between asthma patients and healthy controls (P=0.049, P=0.043). The A allele frequency of rs1889570 in asthma group was significantly higher than that in control group (OR=1.43, 95%CI: 1.001~2.004, P=0.049). The frequency of alleles and genotypes in rs763780 between two groups had no significant difference (P>0.05). There was no difference in IL-17 levels between rs763780 and rs1889570 genotypes in asthma group (P>0.05). Conclusion　The rs1889570 locus of IL-17F gene is associated with the susceptibility to asthma in children and those who carry the A allele are at high risk of asthma.

TGF-β1 and BMP-7 in early prediction of bronchopulmonary dysplasia in premature infants

WANG Huijie, XU Yan, WANG Jun

Journal of Clinical Pediatrics. 2019, 37(6): 405. doi:10.3969/j.issn.1000-3606.2019.06.002

Abstract ( 244 )

PDF (1160KB) ( 171 )

Related Articles | Metrics

Objective　To explore the effect of plasma levels of transforming growth factor-β1 (TGF-β1) and bone morphogenetic protein-7 (BMP-7) in early predictive of bronchopulmonary dysplasia (BPD) in premature infants. Method A total of 84 premature infants with gestational age of 28 to 32 weeks and birth weight <1500 g admitted to neonatal intensive care unit from July 2017 to August 2018 were selected, and were divided into BPD group (n=31) and non-BPD group (n=53) according to the diagnostic criteria of BPD. Peripheral blood was collected on the 1st, 7th and 14th day after birth. The plasma levels of TGF-β1 and BMP-7 were measured by ELISA. Results　Repeated measures analysis of variance showed that there were significant differences in plasma levels of TGF-β1 and BMP-7 between the two groups (P<0.001). The changes of plasma TGF-β1 and BMP-7 concentrations over time were also statistically significant between the two groups (P<0.001). The levels of TGF-β1 in BPD group increased slightly on the 1st day, decreased on the 7th day and increased significantly on the 14th day. The levels of plasma BMP-7 increased slightly on the 1st day, continued to rise on the 7th day and decreased on the 14th day. The levels of TGF-β1 and BMP-7 in BPD group were higher than those in non-BPD group at each postnatal time point. Conclusion Early postnatal plasma levels of TGF-β1 and BMP-7 are helpful in early prediction of BPD in premature infants.

Study on predictive indicators of Mycoplasma Pneumoniae pneumoniae necrotizing pneumonia in children

WANG Xiufang, LI Weixia, ZHANG Yanli, et al

Journal of Clinical Pediatrics. 2019, 37(6): 409. doi:10.3969/j.issn.1000-3606.2019.06.003

Abstract ( 419 )

PDF (1177KB) ( 195 )

Related Articles | Metrics

Objective　To analyze the clinical features and laboratory results of Mycoplasma pneumoniae necrotizing pneumonia (MPNP) in children, and to search for early diagnostic indicators of MPNP. Method　The clinical data of MPNP in 40 children and refractory Mycoplasma pneumoniae pneumonia (RMPP) in 60 children were retrospectively analyzed. The differences between the two groups were compared, and ROC curves were drawn to find the indicators to predict the occurrence of MPNP. Results　The hospitalization time, fever duration, the proportion of liver injury and pleural effusion, peripheral white blood cell (WBC) count, neutrophil ratio, C-reactive protein, D-dimer and lactate dehydrogenase in MPNP group were significantly higher than those in RMPP group, and there were significant differences (all P<0.05). Multivariate logistic regression analysis showed that WBC (OR=1.35, 95%CI: 1.09~1.68) and fever time (OR=1.22, 95%CI: 1.03~1.44) were risk factors for MPNP (all P<0.05). The ROC curves of WBC and fever duration for predicting MPNP were drawn. It was found that WBC>12.6×109/L and fever duration >13.5 days were of high value in predicting MPNP (AUC=0.80, 0.83, all P<0.001). Conclusion　When fever duration was >13.5 days and WBC was >12.6×109/L in children with lobar pneumonia induced by Mycoplasma pneumoniae, the clinician should be alerted to occurrence of MPNP.

Clinical epidemiological characteristics of 920 children with pulmonary tuberculosis

YANG Liyan，HUANG Yanfeng，YU Ya, et al

Journal of Clinical Pediatrics. 2019, 37(6): 413. doi:10.3969/j.issn.1000-3606.2019.06.004

Abstract ( 333 )

PDF (1165KB) ( 184 )

Related Articles | Metrics

Objective　To analyze the clinical epidemiological characteristics of pediatric pulmonary tuberculosis, (PTB) patient. Methods　A retrospective，descriptive study was undertaken among PTB patients from 2010 to 2015 in the hospital， we collected the clinical data and evaluated related factors，and divided these cases into severe tuberculosis group and non-severe tuberculosis group by the severity of the disease，to analyzes the risk factors of severe tuberculosis. Results　A total of 920 children with PTB were enrolled，age ranged from 9 days to 17 years, the peak age at onset was 7～14 years. 48.9% of patients were complicated with extrapulmonary tuberculosis, and the most commonly seen was tuberculous meningitis（52.4%）. The most common symptoms of pulmonary tuberculosis were fever（80.4%）and cough（71.3%）. The positive rate of T-SPOT.TB (81.5%) was higher than the sputum/gastric bacterium smear (26.9%), PPD (35.5%) and Mycobacterium tuberculosis-PCR (29.6%). CT scanning was superior to X-ray examination in all aspects. There were 355 severe tuberculosis and 565 non-severe tuberculosis. Univariate analysis showed that the gender, age, household registration and PPD test between two groups were significantly different (all P<0.05). Multivariate logistic regression analysis showed that the girls, age at 0-3 years, rural origin and negative PPD were independent risk factors for children with severe tuberculosis. Conclusions PTB is featured with atypical clinical performance，low etiological positive rate，so we need to pay attention to tuberculosis exposure and BCG vaccination， to analysis comprehensively and improve the understanding of the risk factors for severe tuberculosis.

Clinical characteristics of SLE with lung injury at onset in children

WANG Li, ZHANG Yu, XU Li, et al

Journal of Clinical Pediatrics. 2019, 37(6): 418. doi:10.3969/j.issn.1000-3606.2019.06.005

Abstract ( 333 )

PDF (1162KB) ( 315 )

Related Articles | Metrics

Objective　To investigate the clinical characteristics and prognosis of systemic lupus erythematosus (SLE) with lupus lung injury at the first onset in children. Method　The clinical data of SLE in 159 children from January 2011 to October 2016 were retrospectively analyzed. According to chest imaging, the patients were divided into lupus lung injury group and non-lupus lung injury group. The clinical characteristics and prognosis of the two groups were compared. Results　There were 89 cases (56.0%) in lupus lung injury group, of which only 37 had respiratory symptoms and 10 had pulmonary signs. Chest imaging showed mainly pleural effusion/pleurisy and lung parenchymal lesions. SLE disease activity index score (SLEDAI) and the proportion of autoimmune hemolytic anemia, hematuria, proteinuria and low complement C3 in lupus lung injury group were higher than those in non-lupus lung injury group, and the difference was statistically significant (P<0.05). All 14 death cases were from lupus lung injury group. The mortality rate of lupus pulmonary injury group was significantly higher than that of non-lupus pulmonary injury group (P<0.05). Conclusion　SLE is prone to have lupus lung injury at the first onset in children, but there are no specific manifestations. Chest imaging is very important. SLE with lupus lung injury at the first onset in children has poor prognosis.

Bronchitis obliterans due to Mycoplasma Pneumoniae pneumonia in children: a case report and literature review

YI Qian, WU Yi, LI Yuanyuan, et al

Journal of Clinical Pediatrics. 2019, 37(6): 423. doi:10.3969/j.issn.1000-3606.2019.06.006

Abstract ( 412 )

PDF (1714KB) ( 327 )

Related Articles | Metrics

Objective　To explore the clinical characteristics of bronchitis obliterans due to Mycoplasma pneumoniae pneumonia (MPP). Methods　The clinical data of bronchitis obliterans due to MPP in a child was retrospectively analyzed, and the related literature was reviewed. The clinical, imaging, and bronchoscopic features of bronchitis obliterans secondary to MPP were summarized. Results　A 4-year-old boy presented with shortness of breath and activity intolerance after 1 month of severe MPP. Physical examination revealed left thoracic collapse and low breathing sound in left lung. Pulmonary imaging showed a shift of the mediastinal heart shadow to the left, atelectasis and bronchiectasis in left lower lobe and mosaic perfusion in right lung. Bronchoscopy showed sub-branch occlusion of left upper tongue lobe segment and left lower anterior outer basal segment. After bronchoscopic balloon dilatation twice, bronchoalveolar lavage and budesonide atomization inhalation, the chest CT showed partial pulmonary reexpansion six months later. From the search, nineteen papers were retrieved including a total of 72 cases, 49 of which had a history of MPP. The children gradually presented shortness of breath, wheezing, activity intolerance and other manifestations within 1-2 months after MPP. Bronchial breath sound can be heard in the affected side. Imaging was characterized by persistent pulmonary consolidation or atelectasis. After sequential treatment with azithromycin combined with glucocorticoids and bronchoscopy, 8 of the 17 patients who received follow-up were improved. Conclusion　Secondary to MPP, when a patient manifested shortness of breath, wheezing and impaired activity tolerance and imaging examination suggested unilateral atelectasis, clinicians should be alerted to the occurrence of bronchitis obliterans. Early diagnosis and treatment by the use of bronchoscopy may play a positive role in improving prognosis.

Massive hemorrhagic pleural effusion caused by pancreaticopleural fistula in children: a case report and literature review

YU Zhenxi, YU Yanping, HUANG Xianmei

Journal of Clinical Pediatrics. 2019, 37(6): 427. doi:10.3969/j.issn.1000-3606.2019.06.007

Abstract ( 359 )

PDF (1469KB) ( 154 )

Related Articles | Metrics

　Objective　To explore the clinical characteristics, diagnosis and treatment of massive hemorrhagic pleural effusion caused by pancreaticopleural fistula (PPF) in children. Method　The diagnosis and treatment of a child with massive right-sided hemorrhagic pleural effusion caused by PPF was retrospectively analyzed. The Chinese databases and PubMed databases were searched up to August 2018 for literature review. Results　An 8-year-old girl suffered from intermittent dyspnea for more than 20 days. CT showed massive pleural effusion at the right side and signs of chronic pancreatitis. Although symptomatic treatment was given, bloody fluid continued to flow out from the closed chest drainage tube, and the highest amylase in pleural effusion was 56365.7 U/L. PPF was found by second imaging examination. Endoscopic retrograde cholangiopancreatography (ERCP) and endoscopic retrograde pancreatic drainage were performed and the girl was improved after treatment and discharged. Literature review identified 18 cases of PPF in children from 6 Chinese articles and 6 English articles and main manifestations were dyspnea or chest tightness (13 cases) and abdominal pain (10 cases). Except for 2 patient who was not clearly reported, amylase/lipase in pleural effusion was increased in other patients who were confirmed by CT, magnetic resonance cholangiopancreatography, ERCP and surgical exploration respectively. Surgery, ERCP intervention or conservative treatments were effective. Conclusions　PPF is a rare pancreatic complication in children and has significant pulmonary symptoms. Pleural effusion amylase detection should be carried out as soon as possible, and fistula should be actively sought. After treatment, the prognosis is mostly good.

Pulmonary ultrasonography combined with X-ray in diagnosis and treatment of pulmonary hypertension: a case report

YANG Yang, REN Zhuxiao, XIANG Jianwen, et al

Journal of Clinical Pediatrics. 2019, 37(6): 432. doi:10.3969/j.issn.1000-3606.2019.06.008

Abstract ( 325 )

PDF (1717KB) ( 142 )

Related Articles | Metrics

Objective　To explore the diagnostic and therapeutic evaluation of pulmonary ultrasonography in secondary pulmonary hypertension. Method　The changes in pulmonary ultrasonography and pulmonary X-ray in a child with secondary pulmonary hypertension during his diagnosis and treatment were retrospectively analyzed. Results　A 2-day-old boy was admitted to hospital for dyspnea. Chest X-ray showed congenital heart disease (pulmonary hyperemia). Echocardiography indicated pulmonary hypertension, patent ductus arteriosus and patent foramen ovale. Pulmonary ultrasonography showed the manifestations of respiratory distress syndrome such as abnormal pleural line, disappearance of line A, pulmonary consolidation and bronchial inflation. After anti-infection therapy, replacement of pulmonary surfactant and other treatments, pulmonary ultrasonography showed that A-line appeared and consolidation disappeared. And the child was cured and discharged 3 weeks later. Conclusion　Pulmonary ultrasonography has certain guiding significance in the diagnosis and treatment of secondary pulmonary hypertension, and has certain advantages over X-ray.

Clinical characteristics of tuberous sclerosis in infants under 6 months of age

CHEN Xiangxiang, YUAN Tianming

Journal of Clinical Pediatrics. 2019, 37(6): 436. doi:10.3969/j.issn.1000-3606.2019.06.009

Abstract ( 398 )

PDF (1256KB) ( 173 )

Related Articles | Metrics

Objective　To explore the clinical characteristics of tuberous sclerosis (TSC) in infants under 6 months of age. Method　The clinical data of 15 infants under 6 months diagnosed with TSC were retrospectively analyzed. Results　In 15 infants (6 boys and 9 girls) 13 infants visited for epilepsy, and 8 presented with infantile spasm. Two infants were treated for prenatal cardiac tumor and more than 3 hypomelanotic macules were found in 10 infants. Brain MRI showed all of the infants had subependymal nodules, and 13 of them also had cortical tubers. Echocardiography showed multiple cardiac rhabdomyomas in 8 infants. In 11 infants who was performed fundus examination, retinal hamartomas was found in 9 infants. In the 2 infants who had genetic tests, both of them had positive results. Conclusion　Epilepsy is the main visit reason for TSC infants under 6 months of age. Detailed physical examination, brain magnetic resonance imaging, echocardiography and fundus examination are important for early diagnosis of TSC.

Potential structural abnormalities in chromosome microarray results by a combination of multiple molecular genetic techniques

TANG Lifang, DING Tao, DAI Hong, et al

Journal of Clinical Pediatrics. 2019, 37(6): 440. doi:10.3969/j.issn.1000-3606.2019.06.010

Abstract ( 297 )

PDF (1589KB) ( 261 )

Related Articles | Metrics

　Objective　To explore the potential structural abnormalities in copy number variation. Method　Four mentally retardated children with copy number variant complicated with multiple malformations were examined by combination of conventional karyotype analysis and FISH molecular biology techniques for identification of their chromosome structural abnormalities, and then prenatal diagnosis and follow-up were carried out in two families. Results　Four children were found to have copy number variations by chromosome microarray detection, which were 16pter deletion/19qter duplication, 18pter deletion/18qter duplication, 13qter deletion and 3p13-14 deletion respectively. Potential structural abnormalities were identified by the combination of karyotype analysis and FISH detection: one case of chromosome end imbalance translocation der (16) t (16p; 19q), one case of inverted repetitive deletion invdup18p/ del 18q, one case involving a telo-satellite translocation (13qs), and one case of a parent balanced insertion recombination leading to 3p interstitial deletion or duplication. Among them, 2 cases were caused by familial balanced reorganization, one case was unknown for the cause but at risk of recurrence, and one case had a new change. Prenatal diagnosis was performed in 2 families in the second trimester, and the follow-up results were consistent with the prenatal diagnosis. Conclusion　Chromosome microarray can detect potential chromosomal structural abnormalities in patients with simple copy number variation. Application of multiple techniques combined can identify potential structural abnormalities and provide accurate risk assessment for recurrence, so as to achieve prenatal diagnosis of diseases. Key

Genetic mutation in congenital nephrotic syndrome Finnish type: a case report and literature review　

CHEN Yanyun, ZHANG Xiaolei

Journal of Clinical Pediatrics. 2019, 37(6): 445. doi:10.3969/j.issn.1000-3606.2019.06.011

Abstract ( 414 )

PDF (1494KB) ( 261 )

Related Articles | Metrics

　Objective　To explore the clinical manifestations of congenital nephrotic syndrome Finnish type (CNF) and the type of mutations in NPHS1 gene. Method　The clinical characteristics, NPHS1 gene test results of CNF in a child and his parents were retrospectively analyzed, and the related literature was reviewed. Results　A boy was born prematurely at 34 weeks of gestational age, and showed clinical manifestations of nephrotic syndrome immediately after birth. All serological examinations were negative, and there was no family history. NPHS1 gene mutations, C. 741G > A, P. (Trp247*) and C. 928G > A, P. (Asp310Asn), were found and the infant was diagnosed with CNF. Among them, C. 741G > A, P. (Trp247*) has not been reported at home and abroad. Conclusion　The newly found C. 741G > A nonsense mutation enriches the mutation spectrum of NPHS1 gene.

Clinical and gene mutation characteristics of primary carnitine deficiency and prenatal diagnosis in one case

CUI Dong, HU Yuhui, TANG Gen, et al

Journal of Clinical Pediatrics. 2019, 37(6): 449. doi:10.3969/j.issn.1000-3606.2019.06.012

Abstract ( 618 )

PDF (1149KB) ( 330 )

Related Articles | Metrics

　Objective　To explore the clinical characteristics, gene mutation and prenatal gene diagnosis of primary carnitine deficiency. Method　The clinical data and the results of gene mutation analysis of primary carnitine deficiency in 8 children as well as the prenatal genetic diagnostic results of amniotic fluid cells in her second pregnancy of a mother were retrospectively analyzed. Results　Six boys and two girls, aged from 5 months to 3 years, visited for vomiting, diarrhea, convulsions and disturbance of consciousness. The plasma free carnitine concentrations were reduced (0.67~4.184 μmol/L) and the hemoglobin concentrations were also decreased (67~110 g/L) in all children. There were abnormalities in liver function and myocardial enzymes in 6 cases, elevated blood ammonia in 6 cases and decreased blood sugar in 2 cases. Cardiomyopathy was indicated by color Doppler echocardiography in 4 cases. Two cases had abnormal electrocardiogram. Six mutations were detected in SLC22A5 gene, including c.760C>T (p.Arg254X), c.1400C>G (p.Ser467Cys), c.844dupC (p.R282PfsX10), IVS2+1G>T, c.3G>T (p.Met1Ile), and c.338G>A (p.Cys113Tyr). A large heterozygous deletion in the 5q23.3q31.3 region was found by chromosome microarray analysis in a child. The c.760C>T heterozygous mutation was detected in amniotic fluid cells of the mother at 18 weeks of second pregnancy, suggesting that the fetus was a carrier. There was a c.760C>T heterozygous mutation site in the peripheral blood SLC22A5 gene analysis after birth, and plasma free carnitine concentration was normal. Except for one case of sudden death, the other 7 cases were treated effectively with L-carnitine, and were under followed-up. Conclusion Primary carnitine deficiency have acute onset, and myocardial and liver injury are particularly prominent. L-carnitine has a good therapeutic effect in primary carnitine deficiency. SLC22A5 gene analysis can be used for the diagnosis and prenatal diagnosis.

Clinical manifestation and gene mutation analysis of Barth syndrome in a child

YAN Ru, ZHU Pengwei, ZHOU Jian

Journal of Clinical Pediatrics. 2019, 37(6): 454. doi:10.3969/j.issn.1000-3606.2019.06.013

Abstract ( 466 )

PDF (1499KB) ( 178 )

Related Articles | Metrics

Objective　To explore the clinical manifestations and genetic characteristics of Barth syndrome (BTHS). Method　The clinical data of BTHS in a child were retrospectively analyzed. Results　A 10-month-old boy had the main manifestations of left ventricular enlargement, fulminant myocarditis, heart failure, muscle weakness, mononucleosis, hypoglycemia, lactic acidosis, diarrhea and facial abnormalities. Gene sequencing revealed a missense mutation in TAZ gene (c.406C>T, p.Cys136Arg), which came from his mother. Conclusion　The gene mutation spectrum and clinical characteristics of BTHS in China were expanded.

Cystic fibrosis caused by CFTR gene variation: a case report and literature review

CHEN Lili, WU Jinzhun, XIONG Hui, et al

Journal of Clinical Pediatrics. 2019, 37(6): 457. doi:10.3969/j.issn.1000-3606.2019.06.014

Abstract ( 404 )

PDF (1795KB) ( 263 )

Related Articles | Metrics

Objective　To explore the relationship between cystic fibrosis genotype and clinical phenotype in Chinese population. Method　The clinical data of cystic fibrosis in a child admitted in March 2015 were retrospectively analyzed, and the related literature was reviewed. Results　A girl began to develop recurrent cough and expectoration and pulmonary infection shortly after birth. At the age of 9, the patient was found to have severe malnutrition, clubbing fingers (toes), tenderness in the paranasal sinus area, and scattered rales in both lungs. Laboratory examination suggested pancreatitis; imaging examination suggested sinusitis and bronchiectasis. Whole exon genome sequencing detected complex heterozygous mutations of CFTR gene including splicing mutation of c.1766+5G>T (NM_000492.3) in allele 1 and frameshift mutation of c.2805delA:p.L935fs (NM_000492) in allele 2, which matched the clinical phenotype of cystic fibrosis. The databases of CNKI, Wanfang and PubMed were searched with "cystic fibrosis" and "gene" as key words up to July 2018. A total of 7 articles were retrieved and 9 cases of cystic fibrosis with c.1766+5G>T mutations were reported. Including 1 case in this study, a total of 10 cases of cystic fibrosis were reported. All the 10 children were Chinese and the main manifestations were recurrent cough and expectoration. Most of them were complicated with bronchiectasis, and only some of them were complicated with pancreatic insufficiency. Conclusion The c.1766+5G>T locus may be the unique mutation site of CFTR gene in China. It is a new complex heterozygous variant with c.2805 delA:p.L935fs mutation. Its clinical phenotype is mainly respiratory tract infection and digestive tract is rarely involved.

SCN8A gene mutation associated epileptic encephalopathy in two cases and literature review

YAO Chunmei, ZHAO Rongjiang, DENG Yaxian, et al

Journal of Clinical Pediatrics. 2019, 37(6): 462. doi:10.3969/j.issn.1000-3606.2019.06.015

Abstract ( 512 )

PDF (1343KB) ( 644 )

Related Articles | Metrics

　Objective　To explore the clinical characteristics, diagnosis and treatment of SCN8A gene mutation associated epileptic encephalopathy. Method　The clinical data of SCN8A gene mutation associated epileptic encephalopathy in 2 children were retrospectively analyzed, and the related literature was reviewed. Results　Two boys had psychomotor retardation and was onset with convulsions. The mutation of SCN8A gene was confirmed in 2 patients by gene test. The age at onset was 3.5 months after birth in case 1. Because of the increase of seizures with the use of lethiracetam, it was replaced by topiramate and traditional Chinese medicine, but effect in the control of seizures was not ideal. At the age of 2 years and 9 months, the child had frequent seizures, accompanied by severe regression of language and motor development and poor swallowing function. After addition of lamotrigine, the seizures was stopped and his swallowing function was returned to normal, and the movement and language began to recover gradually. The age at onset was 2 months after birth in case 2. The seizure frequency was reduced but not completely controlled after the treatment of topiramate. Due to reduced sweating and increased body temperature in summer as well as increased seizure frequency, topiramate was discontinued and replaced by levetiracetam, but the seizure frequency was increased. Thus, levetiracetam was discontinued and was replaced by sodium valproate, and the seizure frequency was reduced. After combined use of oxcarbazepine, seizures were completely controlled, and no recurrence was observed for two and a half years of follow-up. Case 2 suffered from delayed development and poor swallowing function from birth to now. Conclusions　SCN8A gene mutation leads to early onset of epilepsy often accompanied by mental/developmental retardation and delayed language development. When the seizures are severe, abnormal swallowing function occurs. The disease responds well to sodium channel blockers.

Research progress of microRNAs in regulating bronchial asthma

LI Xuejing, ZHANG Yuanyuan

Journal of Clinical Pediatrics. 2019, 37(6): 466. doi:10.3969/j.issn.1000-3606.2019.06.016

Abstract ( 299 )

PDF (1136KB) ( 312 )

Related Articles | Metrics

Bronchial asthma is a heterogeneous disease and could have airway inflammation, reversible airway obstruction, airway hyperresponsiveness and airway remodeling. MicroRNAs (miRNAs) are a class of small non-coding RNAs involved in post-transcriptional gene repression and play a major regulating role in the development and progression of asthma. This review summarizes the current understanding of miRNAs in the regulation of airway inflammation and airway remodeling in asthma. Furthermore, miRNAs are also shown to be targets for asthma therapy in the future.

Current diagnosis and treatment of focal segmental glomerulosclerosis

KUANG Qianhuining, GAO Chunlin, YAO Jun

Journal of Clinical Pediatrics. 2019, 37(6): 470. doi:10.3969/j.issn.1000-3606.2019.06.017

Abstract ( 372 )

PDF (1143KB) ( 218 )

Related Articles | Metrics

　The main clinical manifestations of focal segmental glomerulosclerosis (FSGS) are proteinuria and nephrotic syndrome. FSGS is pathologically characterized by focal segmental distribution of glomerular sclerosis and podocyte foot process fusion, and is one of the main causes of end-stage renal disease. Due to the complex etiology and unclear pathogenesis of FSGS, its diagnosis and treatment still face many difficulties. This article reviews the current status of diagnosis and treatment of FSGS in recent years.

Progress in research of Hedgehog pathway in the pathogenesis of congenital biliary atresia

Bai Meirong, YU Xianxian

Journal of Clinical Pediatrics. 2019, 37(6): 475. doi:10.3969/j.issn.1000-3606.2019.06.018

Abstract ( 277 )

PDF (1144KB) ( 205 )

Related Articles | Metrics

　Congenital biliary atresia (CBA) is an early neonatal biliary disease, which results in different degrees of intrahepatic and extrahepatic biliary atresia and liver fibrosis accompanied by irreversible injury of hepatobiliary duct. It is the main cause of neonatal obstructive jaundice and liver transplantation in children. Its pathogenesis has not yet been delineated clearly, and it is a complex disease caused by the combination of genetic and environmental factors. Hedgehog signaling pathway plays an important role in mammalian embryonic development, organ formation and development. Recent studies have found that Hedgehog signaling pathway also plays an important role in the of CBA. Activation of Hedgehog pathway can affect embryonic liver development, enhance the hepatobiliary fibrosis and hinder the formation of bile duct morphology, leading to the development of CBA. This article focuses on the important role of Hedgehog pathway in the formation of CBA.

Table of Content