Table of Content

15 December 2019 Volume 37 Issue 12

  

Clinical characteristics and genotype analysis of infantile Sandhoff disease

WANG Jue, LIN Zhi, CHEN Lang, et al

Journal of Clinical Pediatrics. 2019, 37(12):  881.  doi:10.3969/j.issn.1000-3606.2019.12.001

Abstract ( 299 )   PDF (2033KB) ( 251 )  

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Objective　To explore the clinical and HEXB gene mutation characteristics of infantile Sandhoff's disease. Methods　The clinical data of 2 probands of infantile Sandhoff disease and their families were retrospectively analyzed. Results　The onset in two probands (one male, one female) was in infancy. The first manifestation was hypoplasia and the common manifestations were excessive fright, epilepsy, tendon reflex enhancement, cherry red spot on the fundus of the eye, etc. Progressive developmental regression occurred in both children, and almost all motor and cognitive abilities were lost around the age of 2 years. Cranial MRI showed that the male patient had no abnormalities and the female patient had abnormal signals in bilateral basal ganglia and cerebellar atrophy. The heterozygous and homozygous mutations were found in HEXB gene of 2 children, and the mutant sites were reported for the first time. The boy died in preschool age and the girl is still in follow-up. Conclusions　Mental motor retardation and regression are the earliest and most common manifestations of infantile Sandhoff disease. Abnormal signals in thalamus and basal ganglia may be its characteristic manifestations. Myelodysplasia and brain atrophy are also common. Gene testing is helpful for diagnosis.

Clinical characteristics and gene analysis of critical methylmalonic acidemia in children

LIU Min, CUI Lidan, WANG Qi

Journal of Clinical Pediatrics. 2019, 37(12):  885.  doi:10.3969/j.issn.1000-3606.2019.12.002

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　Objective　To analyze the clinical and genetic characteristics of critical methylmalonic academia. Methods The clinical data of 34 cases of critically methylmalonic acidemia from September 2015 to December 2018 were retrospectively analyzed, among which 11 cases underwent genetic testing. Results　In the 34 cases (18 males and 16 females) median age was 11.5 months. All the children had 2 or more organ dysfunction or failure. In addition to the damages commonly seen in blood system, liver, kidney, heart, pulmonary vascular and nervous system, 11 patients had decreased fibrinogen level and 3 patients had congenital atresia of the middle and lateral foramen of the fourth ventricle (Dandy-Walker malformation). In the 11 children who underwent genetic testing, 9 had mutations in MMACHC gene, and c.609G>A mutation was a hot spot mutation in combined methylmalonic acidemia. Two children with brain developmental malformation had mutations of c.609G>A. The other 2 cases were simple methylmalonic acidemia, both caused by the mutation in methylmalonyl coenzyme A mutase (MUT) gene. Conclusions　Neurological damage is most common in children with critical methylmalonic acidemia, and some children may be associated with brain developmental malformations, which may be related to c.609G>A locus mutation. The level of fibrinogen can be decreased.

Clinical analysis of methionine adenosyltransferase Ⅰ / Ⅲ deficiency in 5 confirmed cases in neonatal screening

ZHANG Zhilei, SUN Yun, Wang Yanyun, et al

Journal of Clinical Pediatrics. 2019, 37(12):  889.  doi:10.3969/j.issn.1000-3606.2019.12.003

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Objective　To explore the clinical and gene variation characteristics of methionine adenosyltransferase Ⅰ/Ⅲ deficiency. Methods　The clinical data and gene detection of methionine adenosyltransferase Ⅰ/Ⅲ deficiency in 5 newborns found by tandem mass spectrometry in neonatal screening were retrospectively analyzed. Results　In the 220000 newborns screened, 5 cases of methionine adenosyltransferase Ⅰ/Ⅲ deficiency were found and an incidence rate was 1/44000. In the 5 newborns, the concentrations of methionine were 70~150 μmol/L in 3 newborns, among whom 2 were autosomal dominant inheritance and one was autosomal recessive inheritance and all of them had a good prognosis. The blood methionine concentrations of the other 2 newborns were continuously greater than 500 μmol/L and they were autosomal recessive inheritance. These 2 newborns were treated with special diet. During follow-up, 1 patient had abnormal cranial magnetic resonance and abnormal liver function, and 1 patient had microdeletion syndrome and developmental retardation. Conclusion　Methionine adenosyltransferase Ⅰ/Ⅲ deficiency can be diagnosed early by tandem mass spectrometry combined with gene detection and the disease requires long-term follow-up.

Nonmuscle myosin heavy chain 9 related diseases: a report of 2 cases and literature review

ZHENG Yongzhi, LI Jian, HU Jianda

Journal of Clinical Pediatrics. 2019, 37(12):  893.  doi:10.3969/j.issn.1000-3606.2019.12.004

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Objective　To investigate the genetic mutations and clinical characteristics of nonmuscle myosin heavy chain 9 related diseases (MYH9-RD). Methods　The clinical data of 2 patients with MYH9-RD in the same family were retrospectively analyzed and the relevant literature was reviewed. Results　The proband (male, 17 months) and his father presented with a triad of giant platelets, decreased platelet count and inclusion bodies in neutrophils. The father of the proband also had neuropathic deafness. Both of them had been misdiagnosed of immune thrombocytopenia and had hormone therapy was not effective. Both the proband and his father had heterozygous mutations of MYH9 gene (c.4270G >A), which led to an amino acid change (p.D1424N) and was a missense mutation. In China, 38 have gene sequencing results in 48 reported families of MYH9-RD, among which c.4270G>A (p.D1424N) is the most reported mutation type of MYH9 gene. Conclusions　Combining cell morphology and gene detection is beneficial to the early diagnosis of MYH9-RD, and c.4270G>A (p.D1424N) is the most common MYH9 gene mutation type in China.

CHARGE syndrome: report of 2 cases and literature review

YANG Ying, LIU Yu, WEN Jing, et al

Journal of Clinical Pediatrics. 2019, 37(12):  898.  doi:10.3969/j.issn.1000-3606.2019.12.005

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Objective　To explore the clinical characteristics and diagnosis of CHARGE syndrome. Methods　The clinical data of CHARGE syndrome due to CHD7 gene mutation in two children were analyzed retrospectively. The databases of PubMed, HGMD, CNKI, and WanFang were searched from January 1998 to June 2018 with the key words of "CHARGE syndrome and CHD7 gene" and the literatures were reviewed. Results　Two boys were over 4 months old and 8 years and 2 months old respectively. Both of them showed slow growth and development retardation, with hearing impairment and patent ductus arteriosus. In addition case 1 had visual impairment and case 2 had occult testis. Genetic analysis showed that the case 1 carried a heterozygous nonsense mutation of c.5883C>T (p.Arg1945*) in the 29th exon of CHD7 gene, and case 2 carried a heterozygous mutation of c.2966G>A (p.C989Y) in the 12nd exon of CHD7 gene. In case 1, CHD7 mutation led to the truncation of the encoded CHD7 protein, which caused the disease. In case 2, the CHD7 mutation may not only cause missense mutation itself, but may also cause the disappearance of the ESE (TGCATT) site bound by SRp55 protein, affecting the accuracy of pre-mRNA splicing, and thereby affecting the function of CHD7 protein. A total of 107 articles on CHD7 gene causing CHARGE syndrome were retrieved and covered 1021 patients. There were 817 mutations data of CHD7 gene collected in HGMD. Conclusions　The symptoms of CHARGE syndrome are diverse and involve multiple systems. The CHD7 gene detection is helpful for the diagnosis of CHARGE syndrome.

Clinical and genetic analysis of carbamoyl phosphate synthetase 1 deficiency: a case report

YANG Suyan, SUN Fuqiang, LIU Fang

Journal of Clinical Pediatrics. 2019, 37(12):  902.  doi:10.3969/j.issn.1000-3606.2019.12.006

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　Objective　To explore the clinical characteristics, diagnosis and treatment of carbamoyl phosphate synthetase 1 deficiency (CPS1D) caused by CPS1 gene mutation. Methods　The clinical data and gene detection results of CPS1D caused by CPS1 gene mutation in a child were analyzed retrospectively. Related literature was reviewed. Results　The patient was male, born prematurely at 36 weeks and weighed 2500 g. After birth, the patient had poor reaction, milk rejection and low muscle tone in the limbs. The blood ammonia was significantly elevated, and tandem mass spectrometry showed that blood citrulline levels were reduced and there was a urea cycle disorder. The whole exon sequencing showed a complex heterozygous mutation of CPS1 gene, which came from the missense mutations of mother [c.2876a > G (p.y959c)] and father [c.2429a > C (p.q810p)]. Parents were not close relatives, and the phenotype is normal. Conclusion　Early detection of genes can help diagnose CPS1D.

The Cantu syndrome: a case report and literature review

CAO Yuhong, ZHANG Liyi, CAO Kaifang, et al

Journal of Clinical Pediatrics. 2019, 37(12):  905.  doi:10.3969/j.issn.1000-3606.2019.12.007

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Objective　To explore the clinical characteristics of Cantu syndrome. Method　The clinical data and molecular genetic test results of Cantu syndrome in a child were retrospectively analyzed, and pertinent literature was reviewed. Results　A 6-month-old boy visited for hypertrichosis and psychomotor retardation. The patient presented a distinctive facial appearance such as thick scalp hair, low frontal hairline, excessive growth of body hair on the extremities and back, a flat nasal bridge, hypertelorism, epicanthic folds, thick lips and hypertrophic tongue. The patient also had developmental retardation. The heterozygous mutation of c.4040G > T (guanine> thymine) in exon 33 of ABCC9 gene was found by gene detection, which resulted in the amino acid change of p.Arg1347Leu (arginine> leucine), and the child was diagnosed with Cantu syndrome. Conclusion　Cantu syndrome is characterized by congenital hypertrichosis, distinctive facial features and psychomotor retardation, and genetic detection is helpful for early diagnosis.

Mowat-Wilson syndrome: a case report

ZHANG Liyi, ZHANG Guangyun, CAO Kaifang, et al

Journal of Clinical Pediatrics. 2019, 37(12):  909.  doi:10.3969/j.issn.1000-3606.2019.12.008

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　Objective　To explore the clinical characteristics of Mowat-Wilson syndrome. Methods　The clinical data and molecular genetic test results of Mowat-Wilson syndrome in a child were retrospectively analyzed, and the related literature was reviewed. Results　A 3-year- and 10-month-old girl visited due to mental retardation and convulsions. She presented a distinctive facial appearance such as frontal bossing, hypertelorism, epicanthal folds, broad eyebrows, a broad nasal bridge, a prominent columella, a triangular chin and uplifted earlobes. Cardiovascular ultrasonography showed a bicuspid aortic valve malformation. Cranial magnetic resonance imaging revealed mild bilateral ventricular enlargement. Electroencephalogram monitoring showed that the epileptic discharge was localized in frontal and anterior temporal lobes. Genome sequencing and bioinformatics analysis showed a heterozygous mutation, c.164 delC, in exon 3 of ZEB2 gene, which resulted in the amino acid change of p.Pro55fs, and Mowat-Wilson syndrome was confirmed. Conclusion　The ZEB2 gene mutation profile of Chinese Mowat-Wilson syndrome has been expanded.

Congenital chloride diarrhea: a case report and gene analysis

LIN Lifang, YUAN Tianming

Journal of Clinical Pediatrics. 2019, 37(12):  913.  doi:10.3969/j.issn.1000-3606.2019.12.009

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Objective　To explore the clinical characteristics and genetic variation of congenital chloride diarrhea (CCD). Method　The clinical data and genetic analysis of CCD in a child were retrospectively analyzed. Results　A 15-dayold girl was admitted to the hospital due to yellow sclera and skin after birth. After admission, the patient had occasional diarrhea and recurrent abdominal distension. Repeated blood gas and electrolyte analysis suggested hypokalemia, hyponatremia, hypochloremia and metabolic alkalosis. Thus, Bartter syndrome was diagnosed clinically and after treated with sodium chloride and potassium chloride, the results of blood gas and electrolyte analysis were basically stable. The genetic test found that the child’s SLC26A3 gene had a compound heterozygous variation, c.269_270 dupAA and c.735+4_735+7del that were from her mother and father respectively. The c.735+4_735+7del is a new mutation and has not been reported in the literature. Conclusion A rare case of CCD was diagnosed.

Clinical and familial gene mutation analysis of congenital melanocytic naevi: a case report

LI Xiaoze, TAO Yilun, YAO Zerong, et al

Journal of Clinical Pediatrics. 2019, 37(12):  916.  doi:10.3969/j.issn.1000-3606.2019.12.010

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　Objective　To explore the clinical and genetic characteristics of congenital melanocytic naevi (CMN). Method　The clinical data of CMN in a child was retrospectively analyzed. Results　HE staining of damaged skin tissue in a 5-year-old boy showed a large number of melanocytes were widely distributed in the dermis and he was diagnosed of CMN. The chromosome karyotype analysis of the damaged skin tissue showed no significant abnormalities. The results of gene detection showed a heterozygous mutation of NRAS gene, C. 182A > G (Q61R), in the damaged skin tissues. Pedigree analysis showed that the correspondent loci in the peripheral blood of the child and his parents were wild-type. Conclusions　CMN was caused by somatic mutation of NRAS gene in this case, and genetic test of damaged skin tissue was helpful for diagnosis and prognosis of CMN

Clinical and genetic analysis of congenital afibrinogenemia: a case report

ZHANG Xingdao, CAO Haiyan, YUAN Xinhui, et al

Journal of Clinical Pediatrics. 2019, 37(12):  920.  doi:10.3969/j.issn.1000-3606.2019.12.011

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Objective　To explore the clinical and genetic characteristics of congenital afibrinogenemia. Methods The clinical data of congenital afibrinogenemia in a child were analyzed and the related literature was reviewed. Results　A boy had the main clinical manifestations of intermittent umbilical cord bleeding for 20 days. The whole exon sequencing revealed two heterozygous mutations on the FGA gene, c.744delG and c.364+1G>C, and the patient was diagnosed with congenital afibrinogenemia. Conclusion　Congenital fibrinogenemia is rare, and whole exon sequencing is helpful for early diagnosis.

Diagnosis of a heterozygous HB Quong Sze by next-generation sequencing: one case report

WANG Li, WANG Xiong, LU Yanjun, et al

Journal of Clinical Pediatrics. 2019, 37(12):  924.  doi:10.3969/j.issn.1000-3606.2019.12.012

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　Objective　To explore the mutation characteristics of HB Quong Sze. Methods　A 5-year-old boy was suspected with thalassemia and had a hemoglobin of 113 g/L, a mean corpuscular volume of 66.5 fl and a mean hemoglobin content of 21.6 pg. The PCR was used to detect 3 common forms of alpha-thalassemia and 17 beta-thalassemia genes , and no abnormalities were found. Then the next-generation sequencing was used for gene detection and verification. Results　A heterozygous mutation of α thalassemia, HBA2 c.377T > C, was detected in the patient, which came from the father, and HB Quong Sze was confirmed. Conclusion　Next-generation sequencing can diagnose HB Quong Sze type thalassemia which has no abnormalities in conventional genetic testing.

Prader-Willi syndrome with severe sleep apnea syndrome and obesity hypoventilation syndrome: a case report and literature review

HE Yanyu, WANG Yuqing, HAO Chuangli, et al

Journal of Clinical Pediatrics. 2019, 37(12):  927.  doi:10.3969/j.issn.1000-3606.2019.12.013

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　Objective　To explore the characteristics of sleep apnea syndrome in Prader-Willi syndrome (PWS) in children. Methods　The clinical features and polysomnography of a severe obese school-age child with PWS before and after non-invasive positive pressure ventilator were retrospective analyzed. The key words of "PWS, obstructive sleep apnea syndrome (OSAS), obesity hypoventilation syndrome (OHS) and children" were searched in the databases of PubMed, WanFang and CNKI from 1980 to 2018 for the data of PWS patients with OSAS and OHS. The characteristics and influencing factors of sleep apnea were analyzed. Results　A 10-year-old boy with a body weight of 60 kg, height of 124 cm and BMI of 39.02 (> P97) was admitted to the hospital due to cough and cyanosis of lips. At admission, he was conscious, and took 40 breaths / min. His breathing sounds in both lungs were coarse, with dry and wet rales, and muscle tone in his limbs was weak. The blood oxygen saturation was 82%, and the arterial PCO2 in waking state was 115 mmHg. After endotracheal intubation and mechanical ventilation, combined with anti-infection treatment, the condition was controlled, and then the ventilator was removed. The SpO2 in conscious state was 85%~92%. Nocturnal apnea and hypoxia happened frequently. All night polysomnography showed that apnea hypopnea index was 31.7 times per hour, and the lowest pulse oxygen was 46%, indicating severe sleep apnea syndrome and severe hypoxemia. Conclusions　Sleep breathing disorder in PWS is complex complication which can be combined with severe sleep apnea syndrome and OHS. Polysomnography plays an important role in its diagnosis and differentiation. Noninvasive ventilator treatment is effective.

The effect of body weight on lung function in children aged 6-17 years

WU Jinhong, PAN Chunhong, WU Yufen, et al

Journal of Clinical Pediatrics. 2019, 37(12):  932.  doi:10.3969/j.issn.1000-3606.2019.12.014

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　Objective　To investigate the effect of body weight on pulmonary function in children. Method　According to the World Health Organization's overweight and obesity standard for children, the obese, overweight and normal weight children were selected and grouped from children with neither respiratory disease nor other diseases affecting pulmonary function. Their pulmonary ventilation function were measured and compared. Results　A total of 1233 children were included, including 285 obese children, 155 overweight children and 793 normal weight children. There were significant differences in VCMAX and FVC among the three groups (P<0.01), and they were the highest in the overweight group. The differences of FEV1/VCMAX, FEV1/FVC, FEF75 and MMEF25-75 among the three groups were statistically significant (P<0.01) and they were the highest in the control group. There was no significant difference among the three groups in lung ventilation indexes of FEV1, PEF, FEF25 and FEF50 (P>0.05). The actual values of lung function were similar to the ones above among the three groups but the degree of changes were smaller to some extent. Conclusions　Overweight and obese children have increased lung capacity compared to the children with normal weight, and they may also have obstructive disease and small airway dysfunction.

Discussion on early prediction of high risk of food allergy in children

BAI Pingping, XING Mengjuan, HU Yan

Journal of Clinical Pediatrics. 2019, 37(12):  936.  doi:10.3969/j.issn.1000-3606.2019.12.015

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　Objective　To explore the value of allergy risk score obtained by combining multiple risk factors in predicting high risk of food allergy in children. Methods　Questionnaire survey was performed to obtain information of allergic risk factors in infants under 3 years old. Multivariate logistic stepwise regression analysis was used to analyze the risk factors of food allergy in infants. The positive predictive value of each risk factor for food allergy was calculated. Allergy risk score was calculated based on regression equation. The value of allergy risk score in screening children having high risk of food allergy was evaluated by ROC curve. Results The information was retrospectively obtained from 78 infants diagnosed with food allergy and 156 infants under 3 years old with nonallergic diseases. Family history of allergic diseases, cesarean section, use of antibiotics or antipyretic analgesics during pregnancy, smoking or exposure to smoking environment during pregnancy, exposure to insecticides or mosquito repellents during pregnancy, and pets at home are all risk factors for food allergy in infants and young children (all P<0.05). The positive predictive value of family history of food allergy was 63.2%, and the area under ROC curve (AUC) was 0.696 (95% CI: 0.620~0.771). When the allergy risk score obtained by combining multiple factors was more than 2.85, the AUC for predicting food allergy was 0.804 (95% CI: 0.746~0.863), with a sensitivity of 0.526, a specificity of 0.910 and a Youden index of 0.436. Conclusion　The predictive value of multi-risk factors combination is higher for screening high-risk children of food allergy than that of family history of allergy.

The efficacy of exchange transfusion with different concentrations of red blood cells and its effect on internal environment in newborns

ZHANG Deshuang, XIE Dongke, HE Na, et al

Journal of Clinical Pediatrics. 2019, 37(12):  940.  doi:10.3969/j.issn.1000-3606.2019.12.016

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　Objective　To investigate the efficacy of different ratios of red blood cells (RBC) to plasma in neonatal exchange transfusion (ET) and the effect on internal environment (blood cell counts, electrolyte, blood glucose and acid-base balance). Methods　The clinical data of 149 neonates with hyperbilirubinemia treated with ET from January 2015 to December 2018 were analyzed retrospectively. According to the ratio of RBC to plasma during blood exchange, the patients were divided into the 2:1 group (RBC 2U: plasma 100mL, 62 cases) and the 3:1 group (RBC 3U: plasma 100ml, 87 cases). The decreases of serum total bilirubin (TSB) at 0-hour and 12-hour after ET, the duration of continuous phototherapy after ET and the percentage of recurrent ET were compared between the two groups. Before and after the ET, the changes in blood cell counts, serum electrolytes, blood glucose and blood gas results were compared between the two groups. Results　There were no significant differences between the two groups in gestational age, birth weight, gender and age of ET (all P > 0.05). There were no significant differences between the two groups in the decrease of TSB at 0-hour and 12-hour after ET, the duration of continuous phototherapy and the ratio of recurrent ET (all P> 0.05). After ET, RBC (3.7 ± 0.4 vs 4.7 ± 0.3) and Hb (118.9 ± 12.1 vs 157.8 ± 14.3) in the 3:1 group were increased significantly. Meanwhile, the white blood cell, platelet, sodium and HCO－ 3 levels were significantly decreased after ET, while the concentrations of potassium, calcium, and glucose were significantly increased in both groups (all P<0.05) after ET. However, these differences were not significant between the two groups (all P>0.05). Furthermore, the incidence of ET-related complications, acute bilirubin encephalopathy and kernicterus were similar between the two groups (all P>0.05). Conclusions　Neonatal hyperbilirubinemia can be effectively treated using mixed RBC and plasma in a ratio of either 2:1 or 3:1. A 3:1 ratio of mixed blood can effectively correct anemia, and does not aggravate the disorder of the internal environment after ET.

Clinical analysis of pulmonary arterial hypertension associated with congenital portosystemic shunt in children

XIAO Yunbin, ZENG Yunhong, XIAO Zhenghui, et al

Journal of Clinical Pediatrics. 2019, 37(12):  946.  doi:10.3969/j.issn.1000-3606.2019.12.017

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Objective　To explore the clinical characteristics of pulmonary arterial hypertension associated with congenital portosystemic shunt (PAH-CPS) in children. Method　The clinical data of PAH-CPS in children admitted from January 2012 to January 2019 were retrospectively analyzed. Results　In 5 children (2 males and 3 females)， the age at initial diagnosis was from 0.08 to 4.4 years. The main manifestations of 5 patients were recurrent pulmonary infection, hepatosplenomegaly, abnormal liver function and pulmonary arterial hypertension. Echocardiography confirmed that all the children had different degrees of pulmonary arterial hypertension and intracardiac malformations. Abdominal ultrasonography showed intrahepatic and extrahepatic portosystemic shunts. Abdominal contrast-enhanced CT and cardiac catheterization showed the formation of intrahepatic and extrahepatic vessels. Conclusions　PAH-CPS can be manifested as repeated pulmonary infection, hepatosplenomegaly, abnormal liver function, etc. Ultrasonography can provide diagnostic clues. Abdominal enhanced CT scan and cardiac catheterization can make a definite diagnosis.

Diagnostic value of flexible bronchoscopy in recurrent tracheoesophageal fistula after esophageal atresia repair

LIANG Lei, ZUO Wei, WANG Yu, et al

Journal of Clinical Pediatrics. 2019, 37(12):  950.  doi:10.3969/j.issn.1000-3606.2019.12.018

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　Objective　To explore the value of flexible bronchoscopy in the diagnosis of recurrence of tracheoesophageal fistula after esophageal atresia repair. Methods　The clinical data of recurrent tracheoesophageal fistula after esophageal atresia repair in 5 children from August 2017 to December 2018 were retrospectively analyzed. Results　Among the 5 patients (3 males boys and 2 females), the age at treatment was from 2 to 13 months and the median age was 9 months. All the 5 children were found under flexible bronchoscope to have a fistula at the end of the trachea. Recurrent tracheoesophageal fistula in the trachea membrane were confirmed by blue liquid exuded from the trachea membrane fistula after perfusion of methylene blue by the gastric tube and subsequently surgery. No complications occurred during or after surgery. Conclusion　Flexible bronchoscopy is of great significance in the diagnosis of tracheoesophageal fistula after esophageal atresia repair. Especially when it is in combination with methylene blue perfusion through gastric tube, the diagnosis rate can be improved.

Clinical analysis of asthma with protracted bacterial bronchitis in 3 children

LI Li, LI Jing, WANG Wenjian

Journal of Clinical Pediatrics. 2019, 37(12):  953.  doi:10.3969/j.issn.1000-3606.2019.12.019

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Objective　To analyze the clinical characteristics of asthma with protracted bacterial bronchitis (PBB) in children. Methods　The clinical data of asthma with PBB in children diagnosed from January 2016 to December 2018 were analyzed retrospectively. Results　In 3 children (2 girls and 1 boy) aged 7-8 years with asthma, recurrent cough, sputum production and wheeze were presented for 1 year, 2 months and 1 month, respectively during regular use of inhaled glucocorticoids and they were misdiagnosed with uncontrolled asthma. Case 1 received an increased dose of inhaled glucocorticoid and systemic hormone, and Case 2 and Case 3 were treated with long-acting bronchodilators, and the clinical symptoms of all children were not relieved. Bronchoscopy showed PBB in all 3 children, and case 1 was combined with sinusitis and case 3 was combined with allergic rhinitis and adenoid hypertrophy. Cases 1 and 3 were treated with amoxicillin-clavulanate for 2 weeks combined with inhaled glucocorticoid and intranasal hormone; Cases 2 was treated with amoxicillin-clavulanate and inhaled glucocorticoid for 4 weeks, and all of them were cured. Conclusions　When children with asthma have cough, sputum production and wheezing for more than 4 weeks during regular medication, if they meanwhile have poor response to inhaled glucocorticoids and beta 2-receptor agonists, PBB should be suspected and ruled out.

Research progress on prevention of bronchopulmonary dysplasia in premature infants by breastfeeding

MAO Weiying, ZHANG Rong, CHEN Chao

Journal of Clinical Pediatrics. 2019, 37(12):  957.  doi:10.3969/j.issn.1000-3606.2019.12.020

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