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06 September 2022, Volume 37 Issue 9 Previous Issue   

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Expert consensus on the diagnosis， treatment and prevention of glycogen storage disease type Ia Birth Defects Prevention and Molecular Genetics Branch of China Maternal and Child Health Association, Early Child Development Branch of China Maternal and Child Health Association, Division of Genetics and Metabolism of Child Diseases and Health Care Branch of China Maternal and Child Health Association, et al. 2022, 37(9): 641-649.  DOI: 10.19538/j.ek2022090601 Abstract ( )   Glycogen storage disease type Ia （GSDIa） is a rare but treatable autosomal recessive disease. Glucose 6-phosphatase deficiency is caused by G6PC gene variations， which results in increased glycogen accumulation in the liver， kidneys and intestine. Patients with GSDIa often have multi-organ damage， such as fasting hypoglycemia， hepatomegaly， short stature and renal disease. The diagnosis can be made by the combination of clinical manifestations， biochemical metabolic assays and genetic testing. Individualized dietary treatment can improve the prognosis of most patients. Genetic counseling and prenatal diagnosis can prevent the recurrence risk of high-risk families. In order to improve the strategies for the diagnosis， treatment and prevention of GSDIa and promote the standerdized diagnosis and treatment GSDIa， the consensus was developed by a multidisciplinary team based on domestic and international research progress and guidelines.

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An introduction to the Consensus Recommendations for Plasma and Platelet Transfusion Practice in Critically Ill Children：From the Transfusion and Anemia Expertise Initiative—Control/Avoidance of Bleeding （TAXI-CAB） MENG Kun, XIA Shan-shan, DING Ya-ping, et al 2022, 37(9): 650-655.  DOI: 10.19538/j.ek2022090602 Abstract ( )   Critical illness increases risk of bleeding，and the transfusion of plasma and platelet is a commonly used treatment in the Pediatric Intensive Care Unit（PICU）. While saving the lives of the children with critical illness，it also brings serious blood transfusion-related harm to the children. In order to promote reasonable plasma and platelet transfusion. Transfusion and Anemia Expertise Initiative（TAXI）panel worked out the Consensus Recommendations for Plasma and Platelet Transfusion Practice in Critically Ill Children in 2022. The consensus is composed of seven independent articles：one of them is a summary of the consensus recommendations；four of them deal with the recommendations on 8 specific subgroups respectively with general critical illness，（1.severe trauma，intracranial hemorrhage，or traumatic brain injury; 2. cardiopulmonary bypass surgery; 3. extracorporeal membrane oxygenation; 4.oncologic diseases and hematopoietic stem cell transplantation; 5. acute liver failure or liver transplantation; 6.noncardiac surgery; 7. invasive procedures outside the operating room;8. sepsis and/or disseminated intravascular coagulation）；the other two are the laboratory assays， selection/processing of plasma and platelet components，the research priorities for plasma and platelet transfusion strategies in critically ill children. There are fifty-three specific recommendations totally，of which four are evidence-based，five are good practice statement and forty-four are expert consensus.This article only introduces the clinical recommendations.

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Paying attention to the joint management of chronic inflammatory diseases of upper and lower airways WANG Xiao-ming, ZHANG Wei-xi, LI Chang-chong 2022, 37(9): 656-659.  DOI: 10.19538/j.ek2022090603 Abstract ( )   The concept of "one airway， one disease" needs further attention. Upper and lower chronic airway inflammatory diseases are associated with various fields， such as genetics， immunology， anatomy， epidemiology， pathophysiology， clinical manifestations， diagnosis and treatment， though at different levels. Therefore，the joint  management will be more effective for the diagnosis and treatment. However， due to the various diseases involved， the awareness of pediatricians is significantly insufficient. As such， it is important to establish a holistic view of the upper and lower airways， and strengthen the concept of comprehensive diagnosis as well as the joint management， so as to improve the ability in early identification， comprehensive assessment and diagnosis of the chronic inflammatory diseases of upper and lower airways. Pediatricians need to attach importance to the identification and treatment of the upper airway diseases， and focuse?on multi-disciplinary exchanges?and?cooperation.

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Physiological and immunological basis of joint management of upper and lower airway diseases WANG Hong-li, CHEN Li-na 2022, 37(9): 660-663.  DOI: 10.19538/j.ek2022090604 Abstract ( )   Upper and lower airway diseases are related in epidemiology， pathophysiology， clinical manifestations and treatment strategies to varying degrees. This article reviews the similarities and differences in anatomical， physiological and immune basis of upper and lower airways， and compares the differences and similarities in pathogenesis and connection of upper and lower airway diseases by taking allergic rhinitis and bronchial asthma as examples， hoping to provide a theoretical basis for clinicians to better understand the joint management of “one airway， one disease”.

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Naso-sinusitis and its effect on bronchial asthma in children WANG Yu-qing, GU Wen-jing 2022, 37(9): 663-669.  DOI: 10.19538/j.ek2022090605 Abstract ( )   As chronic inflammatory diseases of upper and lower respiratory tract， there is a close relationship between naso-sinusitis and bronchial asthma， which is called united airway disease.  Naso-sinusitis is a risk factor for asthma onset and poorly control.For united airway disease， treatment for naso-sinusitis and comprehensive management are essential to asthma patients.  This article reviews children's naso-sinusitis and its effect on bronchial asthma as well as treatment plan， hoping to provide some references for diagnosis， treatment and management of united airway disease.

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Sleep-disordered breathing and bronchial asthma in children CAI Xiao-hong, ZHOU Yong-hai, CHEN Bing-jia, et al 2022, 37(9): 669-673.  DOI: 10.19538/j.ek2022090606 Abstract ( )   Sleep-disordered breathing and bronchial asthma are two kinds of common respiratory diseases in children. These two diseases have common risk factors， such as obesity， gastroesophageal reflux， rhinitis and so on. In recent years， many studies have shown that there may be a co-occurring relationship between the two diseases， and the two can affect each other. In the process of clinical diagnosis and treatment， pediatricians in particular need to be alert to the possibility of sleep-disordered breathing and bronchial asthma， so as to avoid serious complications.

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Common and rare upper-lower airway co-existing diseases in childhood SONG Jia-yao, WANG Ying-shuo 2022, 37(9): 673-685.  DOI: 10.19538/j.ek2022090607 Abstract ( )   Chronic inflammatory diseases of upper and lower airways refer to chronic diseases in which inflammation involves upper and/or lower airways， including diseases dominated by upper airways， diseases dominated by lower airways and diseases in which inflammation involves both upper and lower airways. Among them， common and rare diseases coexisting in upper and lower airways in childhood mainly include sinobronchial syndrome （SBS）， relapsing polychondritis （RP）， primary ciliary dyskinesia （PCD）， diffuse panbronchiolitis （DPB）， cystic fibrosis （CF）， eosinophilic granulomatosis with polyangiitis （EGPA）， granulomatosis with polyangiitis （GPA） and Allergic bronchopulmonary aspergillosis （ABPA）. The purpose of this article is to summarize the common and rare coexisting diseases of upper and lower airways in childhood， in order to help clinicians to make early diagnosis and treatment of coexisting diseases of chronic inflammatory diseases of upper and lower airways in childhood， so as to improve the curative effect， prevent irreversible damage and improve the long-term prognosis of children.

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Methods for detection， assessment and treatment of upper-lower airway inflammation TIAN Man 2022, 37(9): 686-691.  DOI: 10.19538/j.ek2022090608 Abstract ( )   Upper-lower airway inflammatory diseases are closely related and interacting with each other， in which inflammation affects the upper and/or lower airways. Reasonable selection of accurate detection methods， early identification of etiology and effective evaluation are of great significance for the diagnosis and treatment of upper-lower airway inflammatory diseases. Since the upper and lower airway inflammations have similar pathogenesis and their own characteristics， there is currently no unified standard for the detection， evaluation and treatment of upper and lower airway inflammation， resulting in huge difficulties and challenges to clinicians， especially to doctors in pediatric， respiratory and otolaryngological departments. This article focuses on a summary of methods for detection， assessment， and treatment of upper-lower airway inflammation.

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Role and mechanism of nasal irrigation in upper and lower airway inflammation LI Rui, DONG Xiao-yan 2022, 37(9): 691-694.  DOI: 10.19538/j.ek2022090609 Abstract ( )   Nasal irrigation is a common topical treatment in nasal diseases. In this paper， by summarizing the literature and guidelines， the effect and mechanism of nasal irrigation on upper and lower airway inflammation were expounded， hoping to contribute to the rational application of nasal irrigation in the diagnosis and treatment of upper and lower airway inflammation.

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Analysis of genotypes and enzymatic activities of G6PD in 5246 female newborns in Hainan Women and Children’s Medical Center HUANG Ci-dan, LIU Xiu-lian, YANG Chun, et al 2022, 37(9): 695-700.  DOI: 10.19538/j.ek2022090610 Abstract ( )   Objective　To analyze the characteristics of gene mutations of glucose-6-phosphate dehydrogenase（G6PD） deficiency in female newborns in Hainan Women and Children’s Medical Center， and discuss the relationship between genotypes and enzyme activities. Methods　Blood samples of female neonates who completed G6PD preliminary screening in Neonatal Disease Screening Center of Hainan Women and Children's Medical Center from 2017 to 2019 were selected as the research subjects. A total of 2153 samples of dried blood spots with G6PD enzyme deficiency were collected. At the same time， 3093 samples of dried blood spots with normal enzyme activity were randomly selected to improve the detection rate of female heterozygotes. Totally 5246 samples were included in the study. Genomic DNA of the blood spots was extracted，and the G6PD mutation sites were detected by multicolor melting curve analysis （MMCA） of PCR. Results　A total of 2801 gene mutations were detected in 5246 samples of female neonates，the detectionrate being 53.39（2801/5246），of which the normal enzyme actiuity accounted for 26.24%（735/2801）. Thirteen mutations sites were detected and 32 genotypes were found， including 12 heterozygous mutations， 6 homozygous mutations and 14 compound mutations. The top seven mutation sites were c.1376G>T，c.1388G>A，c.871G>A，c.95A>G，c.1024C>T，c.392G>T， c.519C>T，and the detection rate of c.871G>A was higher than that of c.95A>G.In addition， a rare mutation site of c.593G>A was found. Homozygous mutation and compound mutation were associated with severe G6PD defciency，the enzyme activities of them were obviously lower than those of heterozygous mutation， while G6PD activity of heterozygous mutations were widely distributed， and there was no obvious distinguishable limit value of heterozygous mutations. Conclusion　The gene mutation types of G6PD deficiency in female newborns of Hainan Women and Children’s Medical Center are complex and diverse，and the hot spot mutations are c.1376G>T， c.1388G>A， c.871G>A.The mutation site of c.871G>A has the specific regional and female characteristics of Hainan. Combining enzyme activity detection with MMCA analysis of DNA can effectively improve the detection rate of G6PD deficiency in female newborns. This research data can provide reference materials for the study of the relationship between genotype and clinical phenotype， and the study of population genetics.

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Clinical prediction model of severe obstructive sleep apnea in children WU Yun-xiao, TANG Yu-fen, ZHENG Li, et al 2022, 37(9): 701-707.  DOI: 10.19538/j.ek2022090611 Abstract ( )   Objective　To establish a clinical prediction model of severe OSA in children with habitual snoring and to provide the evidence for clinical diagnosis and treatment. Methods　The children aged 3-12 years with habitual snoring who visited the sleep center of Beijing Children's Hospital affiliated to Capital Medical University from January to December 2019 were included. All children completed general data collection，OSA-18 questionnaire， PSQ-SRBD scale and polysomnography. The clinical prediction model of children with severe OSA was established based on decision tree method. Results　A total of 1441 children were included and they were divided into severe OSA group（1152 cases） and non-severe OSA group（289 cases） according to PSG results. The age， proportion of boys， BMI， neck circumference/height ratio， abdominal circumference/hip circumference ratio， SRBD breathing dimension， SRBD scale behavior dimension and total score in severe OSA group were higher than those in non-severe OSA group （all P < 0.05）. There was no significant difference in the scores of each dimension or the total score of OSA-18 questionnaire between the two groups （all P> 0.05）. The prediction model of severe OSA based on decision tree had a prediction accuracy of 90%，a recall rate of 76%， and a F1 score of 82% for non-severe OSA children，and a prediction accuracy of 32%， a recall rate of 58%， and a F1 score of 41% for severe OSA children，with an overall accuracy of 73%. Conclusion　The overall accuracy of the clinical prediction model for children with severe OSA constructed in this study is 73%，which has certain predictive value and can provide some evidence for clinical exclusion of children with severe OSA and guide clinical decision-making. However，more clinical data are still needed to further optimize the model.

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Progress in the application of pulmonary function test in the newborn YU Hao-ting, FENG Yong, FU Jian-hua 2022, 37(9): 708-712.  DOI: 10.19538/j.ek2022090612 Abstract ( )

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Research progress in the genetics of multiple acyl-CoA dehydrogenase deficiency YE Mei-ling, ZHOU Duo, HUANG Xin-wen 2022, 37(9): 713-717.  DOI: 10.19538/j.ek2022090613 Abstract ( )

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One case report of Leydig cell tumor combined with central precocious puberty in children LI Rong-min, WANG Jie-ying, YANG Kun, et al 2022, 37(9): 718-720.  DOI: 10.19538/j.ek2022090614 Abstract ( )