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ISSN 1674-3865  CN 21-1569/R
主管:国家卫生和计划生育委员会
主办:中国医师协会
   辽宁省基础医学研究所
   辽宁中医药大学附属医院

Table of Content

    25 February 2023, Volume 15 Issue 1 Previous Issue    Next Issue
    Expert consensus on clinical diagnosis and treatment of simple obesity in Chinese children with integrated traditional Chinese and western medicine
    He Jingwei, Pei Zhou, Qian Tian, Zhou Yiyao, Luo Feihong, Yu Jian
    2023, 15 (1):  1-7. 
    Abstract ( 332 )   PDF (889KB) ( 208 )   Save
    Obesity is an important risk factor for chronic diseases such as hypertension,hyperlipidemia and type 2 diabetes in children. Childhood obesity in China tends to be at young age and with rapid growth. There is little research on childhood obesity in traditional Chinese medicine,and there is no unified standard for syndrome differentiation and classification. There is still no effective prevention and treatment protocols for childhood obesity. It is urgent to formulate an effective consensus and protocols for clinical diagnosis and treatment of childhood obesity based on Chinese medicine and western medicine. This consensus has been revised repeatedly based on the latest guidelines,consensus and research progress of Chinese and western medicine at home and abroad and combined with the clinical practice and experience of childhood obesity in China,aiming to provide clinical reference decisions for the diagnosis and treatment of childhood obesity,so as to improve the overall control level of childhood obesity.
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    Experience of Professor Chen Baogui in treating children with Tourette syndrome
    LIN Xiaolin, ZHANG Jie, LIU Dan, LIU Qingsheng, SANG Yi, CHEN Baogui.
    2023, 15 (1):  7-10. 
    Abstract ( 100 )   PDF (831KB) ( 612 )   Save
    Tourette's syndrome, also called tic disorder, is a common pediatric behavioral disorder in clinical practice, which is characterized by involuntary muscle twitching of the face,limbs and trunk,accompanied by abnormal laryngeal articulation and foul language. There is no clear record of Tourette syndrome in traditional Chinese medicine, and it is classified into the category of slow and shocked wind and liver wind according to its clinical manifestations. As one of the first national famous Chinese physicians,Professor Chen Baogui is the third generation of successor to the integrated traditional Chinese and western medicine school, which was established by Zhang Xichun. Professor Chen is very knowledgeable and experienced with more than 50 years of medical experience, and has unique views on the treatment of Tourette's syndrome. Prof. Chen thinks that its etiology can be summarized as "inherent weaknesses and acquired dysplasia","pathogenic factor harming lung and stimulating liver wind","spleen deficiency generating phlegm and inducing liver wind","blazing of heart-liver fires resulting in spiritual timidness". The lesion is mainly in the liver and spleen,and is closely related to the heart,lung and kidney. The treatment is generally based on the principle of "protecting the spleen and stomach and regulating the five viscera",including nourishing the liver,kidney and spleen,tonifying lung and softening liver wind,invigorating spleen and soothing liver,clearing the fire from liver and heart, and clearing heat and sedating. Acupuncture treatment is combined with medication to relieve depression at same time.
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    hi Zhenggang's experience in treating tic disorder by three stages
    FENG Peng, HE Yuezhen, SUN Zhiqian, WANG Zi'an, SHANG Jing, SHI Zhenggang.
    2023, 15 (1):  11-14. 
    Abstract ( 73 )   PDF (829KB) ( 9 )   Save
    Tic disorders(TD) is a common neuropsychiatric disorder occurring in childhood. The clinical manifestations are uncontrollable and irregular limb tics and/or vocal tics. The audible and visual tic symptoms can cause a variety of psychological,learning and behavioral problems in children,bringing enormous economic pressure and burden to the family and society. The main etiology of this disease is neurotransmitter dysfunction in the brain,trace element imbalance and neuroinflammation,and its occurrence,development and recurrence are closely related to exogenous factors,diet and emotion. Professor Shi Zhenggang is a famous traditional Chinese medicine doctor in Gansu Province. He has long been devoted to the prevention and treatment of children's heart and liver diseases with traditional Chinese medicine. Professor Shi Zhenggang believes that phlegm obstructing,blood stasis and predominate wind causing motion is the key to tic disorder. Also, because TD has a long course of disease and has its own pathogenic characteristics at different stages,Prof. Shi suggests that TD should be treated with liver as the center and puts forward the theory of three-stage treatment: treating from lung in the initial stage,promoting lung and clearing liver,and removing external wind to prevent tic;treating from heart in the acute period,clearing the heart and calming the liver,and calming endogenous wind to stop tic;treating from spleen in the remission period,mobilizing the spleen and soothing the liver,and eliminating phlegm and blood stasis to eliminate tic. This theory reflects the individualized characteristics of TCM treatment for this disease, and has reference and significance in guiding the treatment of TD.
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    Effect of Xiaoer Qingfei mixture on the viral load and inflammatory factors in lung tissues of young rats with respiratory syncytial virus inflammatory lung injury
    WANG Yongxue, ZHANG Xiuying, WANG Xuefeng, ZHAO Hangyu, WANG Lei.
    2023, 15 (1):  15-19. 
    Abstract ( 81 )   PDF (855KB) ( 108 )   Save
    ObjectiveTo investigate the effect of Xiaoer Qingfei mixture on viral load and inflammatory factors in lung tissues of young rats with respiratory syncytial virus(RSV) induced inflammatory lung injury.MethodsEighteen young SD rats were randomly divided into three groups:normal group,RSV group,and the intervention group of Xiaoer Qingfei mixture,with 6 rats in each group.RSV inflammatory lung injury model was established by nasal drip method. Real-time PCR was used to detect the viral load in rat lung tissues. Hematoxylin-eosin staining(HE staining) was used to observe the pathological changes of lung tissue. ELISA method was used to detect the content of IL-8 and TNF-α in BALF. The effect of Xiaoer Qingfei mixture on the above indexes was observed.Results(1)In terms of viral load: compared with the normal group,the RSV content in the lung tissue of the RSV group and the intervention group of Xiaoer Qingfei mixture was significantly increased(P<0.05);compared with the RSV group,the RSV content in the lung tissue of the intervention group was significantly lower(P<0.05).(2)In terms of pathological injury and wet-dry ratio:compared with the normal group,the pathological injury score and the wet-dry ratio of the lung in the RSV group and the Xiaoer Qingfei mixture intervention group were higher(P<0.05);compared with the RSV group,the injury in the intervention group was significantly improved(P<0.05).(3)In terms of the content of IL-8 and TNF-α in BALF: compared with the normal group,the content of IL-8 and TNF-α in RSV group and the intervention group of Xiaoer Qingfei mixture was significantly higher(P<0.05);compared with RSV group,the content of IL-8 and TNF-α in the intervention group of Xiaoer Qingfei mixture was significantly lower(P<0.05).ConclusionRSV intranasal drip can successfully establish RSV inflammatory lung injury model in young rats. The intervention of Xiaoer Qingfei mixture can reduce the viral load of lung tissue in RSV inflammatory lung injury of young rats, inhibit the level of inflammatory factors, and improve the degree of lung injury.
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    Research progress of non-drug therapy for functional abdominal pain in children
    CHEN Yueyue, WU Yuyi, LIANG Puzhao, LI Meifang, HU Siyuan.
    2023, 15 (1):  19-24. 
    Abstract ( 91 )   PDF (888KB) ( 23 )   Save
    In recent years,the number of children with functional abdominal pain has gradually increased,and the diagnosis rate of this disease is increasing with the deepening knowledge of clinical physicians about functional abdominal pain. The family members of the child patients and doctors are urgently seeking effective treatment to relieve the symptoms of abdominal pain and reduce the impact of the disease on children's life and learning. There are many researches on non-drug therapy,including acupuncture,massage,acupoint application and other traditional Chinese medicine treatments, as well as cognitive behavioral adjustment,hypnosis,dietary adjustment and other treatment methods. Clinical observation and randomized trials have confirmed the effectiveness,safety and feasibility of non-drug interventions,both as main and adjuvant therapies. This article summarizes the clinical value of non-drug therapy for functional abdominal pain, aiming to provide reference for primary hospitals and family therapy.
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    Summary and analysis of therapeutic drugs for upper airway cough syndrome in children
    WANG Shimin, PENG Yu, JIANG Xingyanying, ZHU Mingzhu, YANG Shengmin.
    2023, 15 (1):  25-28. 
    Abstract ( 75 )   PDF (836KB) ( 14 )   Save
    This article starts with the pathogenesis,treatment principles and drug selection of children's upper airway cough syndrome,summarizes the literature related to children 's upper airway cough syndrome in recent years,objectively analyzes the current situation of drugs for the treatment of children's upper airway cough syndrome,and comprehensively evaluates the advantages and disadvantages of different drugs and the safety in children 's medication,so as to provide some theoretical support for the clinical research of children's upper airway cough syndrome.
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    Recent progress of gait analysis in the field of lower limb orthosis in spastic cerebral palsy
    MAO Jiabei, LU Yangyang, JIN Sheng, SHEN Min, XU Chunxin, CHEN Cen, ZHAI Xindie, LIU Jing.
    2023, 15 (1):  29-33. 
    Abstract ( 72 )   PDF (869KB) ( 10 )   Save
    Gait analysis can be divided into three-dimensional gait analysis and observational gait assessment,which has guiding significance for the selection of lower limb correction surgery for cerebral palsy. This article reviews the reliability and validity of observational gait assessment and the latest research on gait analysis in the management of lower limb deformity in children with spastic cerebral palsy with various gait patterns in recent years.
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    Research progress of complementary and alternative medicine intervention in autism spectrum disorders
    LIU Annan, JIANG Zhimei
    2023, 15 (1):  34-40. 
    Abstract ( 84 )   PDF (923KB) ( 10 )   Save
    Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by difficulties in social interaction and communication, abnormal repetitive behaviors, narrow areas of interest, and limited ability to conduct daily activities. Because its pathogenesis is unknown, there is no effective treatment at present. Complementary and alternative medicine (CAM), as a non-mainstream intervention therapy, has become an important complementary system of western mainstream medicine and has been widely used in the treatment of ASD. In this paper, the current situation and feasibility of CAM therapy for ASD children were summarized by referring to relevant literatures at home and abroad in recent years, aiming to provide new ideas for the treatment of ASD children.
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    Application value of fecal calprotectin in infants with non-IgE-mediated milk protein allergy
    LI Yan, ZHAO Yu.Tianjin
    2023, 15 (1):  40-45. 
    Abstract ( 135 )   PDF (899KB) ( 20 )   Save
    Food allergy is more common in infants under 1 year old. The intestinal symptoms caused by milk protein allergy(CMPA) are more common,mostly non-IgE -mediated. Early diagnosis is difficult,the relevant mechanism of obtaining tolerance is still unclear,and there are no specific biological indicators for diagnosis and dynamic monitoring of the disease. Therefore,it is very important to find specific biological indicators to help to make early diagnosis. Fecal calprotectin has the effect of anti-bacterial degradation and is not easy to be decomposed in the intestine. Therefore,it can truly reflect the degree of intestinal inflammation and is more intestine-specific than other inflammatory indicators. This paper reviews the application and value of fecal calprotectin in the diagnosis of non-IgE-mediated milk protein allergy in infants.
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    Meta-analysis of the effectiveness of the combined method of internal and external Chinese medicine in the treatment of pediatric viral pneumonia
    SUN Jiayi, WANG Xuefeng, ZHANG Xiuying, MU Jingwen.
    2023, 15 (1):  46-52. 
    Abstract ( 59 )   PDF (2654KB) ( 18 )   Save
    ObjectiveTo systematically evaluate the clinical effectiveness of the combined method of internal and external Chinese medicine in the treatment of pediatric viral pneumonia.MethodsThe random controlled trials related to the combined internal and external treatment of Chinese medicine for pediatric viral pneumonia were searched in four major Chinese databases, CNKI, VIP, CBM and Wanfang, as well as in PubMed, EMBASE and Cochrane library databases, all with a time period from their establishment to May 2022. The literature was de-duplicated by Endnote X9 software and screened, and data was extracted for quality evaluation. Meta-analysis of the data was performed using RevMan 5.4 software.ResultsA total of 5 papers with a total sample size of 860 cases were included.Meta-analysis showed that the overall effectiveness of the combined internal and external treatment for childhood viral pneumonia was significantly higher than that of the control group[OR=6.17,95%CI(3.50, 10.86)](P<0.000 01).The time to disappearance of pulmonary rales[MD=-2.07,95%CI(-2.99,-1.15), P<0.000 1], time to disappearance of wheezing[MD=-1.17,95%CI(-2.11,-0.24),P=0.01], time to disappearance of cough[MD=-2.11,95%CI(-3.83,-0.39),P=0.02] and time to disappearance of cough[MD=-1.89,95%CI(-2.33,-1.44),P<0.000 01] were all better in the combined internal and external treatment method group than in the control group.ConclusionThe overall efficacy of combined internal and external treatment for pediatric viral pneumonia has significant advantages and is effective in shortening the time to disappearance of pulmonary rales, wheezing and cough and sputum.
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    Clinical observation of 50 cases of premature thelarche in girls treated with Jianpi Huatan Tongluo recipe
    LIU Dong, YANG Lingling, MA Hanzheng, LI Yan.
    2023, 15 (1):  52-55. 
    Abstract ( 99 )   PDF (826KB) ( 39 )   Save
    ObjectiveTo evaluate the clinical efficacy and safety of Jianpi Huatan Tongluo recipe in the treatment of premature thelarche in girls.MethodsA retrospective analysis was made in 90 girls who were diagnosed with premature thelarche in the pediatric growth and development clinic of our hospital from June 2019 to January 2022.Among them,50 cases in the treatment group were treated with Jianpi Huatan Tongluo recipe; 40 cases in the control group were given clinical follow-up.The clinical outcomes of the treatment group and the control group were compared,and the efficacy and safety of Jianpi Huatan Tongluo recipe were evaluated.ResultsCompared with the control group,4 cases in the treatment group developed into central precocious puberty during the treatment with Jianpi Huatan Tongluo recipe and the follow-up,and 7 cases in the control group developed into central precocious puberty. After treatment,the clinical symptoms and signs of the treatment group were improved,the ovarian volume had a trend of decrease compared with that before treatment(P<0.05),and the serum estradiol and luteinizing hormone showed a trend of decrease(P<0.05),while the serum follicle stimulating hormone had no significant difference (P>0.05). The treatment group had obvious advantages in improving TCM syndrome scores,and no obvious adverse reactions were observed.ConclusionThe use of Jianpi Huatan Tongluo recipe in the treatment of premature thelarche in girls is clinically effective,and it is worthy of clinical application.
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    Research on the prescription rules of prestigious Chinese physician Wang Boyue in the treatment of pediatric diseases based on data mining
    GAO Kuijie, YANG Dongxin, DAI Huimin, LIN Jianyao, ZHANG Hengshan, LYU Ying.
    2023, 15 (1):  56-60. 
    Abstract ( 68 )   PDF (1579KB) ( 9 )   Save
    ObjectiveTo explore the characteristics and rules of drugs prescribed by prestigious Chinese physician Wang Boyue in the treatment of pediatric diseases.MethodsThe prescriptions included in the "Wang Boyue Medical Complete Collection" were manually retrieved, including those with complete medication information in the medical records. After extracting the prescription information and by referring to the Thirteenth Five-Year Plan textbook "Chinese Materia Medica" and "The Pharmacopoeia of the People's Republic of China (2015 edition), data standardization was performed, and the data was entered into Microsoft Excel software after being checked by two people to establish the "Wang Boyue Pediatric Drug Database". The frequency analysis method was used to count the "four qi", "five flavors", "functioning meridians" and classification of drugs. SPSS Statistic 25.0 software was used to make systematic clustering analysis. SPSS Modeler 14.1 Apriori module was used for association rules and complex network analysis.ResultsA total of 247 prescriptions were included, with a total of 235 drugs. The frequency of the use of Chinese drugs was 2 519 times, and there were 33 drugs being used more than 20 times each, accounting for 55%. The frequently used drugs were those relieving fever and tonifying qi; the drugs were mainly cold in nature (42.4%), and 66% functioned through lung meridian, 48% through stomach and 46% spleen, which accounted for the most part of drugs. The drugs were mainly sweet in flavor (60.5%). Association rules and clustering analysis results showed that Prof. Wang Boyue was good at treating children's pulmonary diseases, and preferred to use the classic prescriptions in the Treatise on Febrile Diseases to treat children's diseases. His commonly used prescriptions included San'ao tablet, Maxing Shigan decoction, Jiegeng Gancao decoction, and Yinqiao powder with addition and subtraction. In the course of treatment, he paid special attention to regulating the spleen and stomach; by regulating the rise and fall of the spleen and stomach qi, regulating dampness and harmonizing stomach, relieving dyspepsia and strengthening spleen and assisting digestion, he comprehensively regulated the spleen and stomach in children.ConclusionProf. Wang Boyue does a good job in using prescriptions for typhoid fever in the treatment of pediatric diseases, pays attention to the conditioning of children's spleen and stomach, and prefers to use "sweet" drugs, heat-clearing drugs and tonifying drugs, which mainly function through the meridians of lung, spleen and stomach.
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    Mining of rules of medication by Youke Zabing Xinfa Yaojue in the treatment of infantile malnutrition based on data
    ZHANG Na, WANG Yanchao, ZHOU Haiyan, HAO Jia, ZHANG Yan.Shanxi
    2023, 15 (1):  61-66. 
    Abstract ( 103 )   PDF (976KB) ( 87 )   Save
    ObjectiveTo explore the clinical medication rules by Youke Zabing Xinfa Yaojue in the treatment of children with infantile malnutrition.MethodsExtract the medical records and prescriptions of infantile malnutrition from Youke Zabing Xinfa Yaojue,and establish the "Database of Youke Zabing Xinfa Yaojue medications for infantile malnutrition";meanwhile,the data mining methods(frequency statistics,association rules and cluster analysis) were used to analyze the clinical medication rules.ResultsA total of 46 prescriptions were selected,involving 124 kinds of Chinese medicines,with the frequency of application being 498.The commonly used hetbs included Licorice,Coptis chinensis,Poria cocos and Radix Picrorrhizae,etc. The herbs tonifying deficiency and antipyretic drugs accounted for the major part. The herbs with cold and warm nature accounted for a large proportion,mostly functioning through the spleen and stomach meridian. Association rules showed that there was close correlation between deficiency-nourishing drugs and deficiency-nourishing drugs,between heat-clearing drugs and anthelmintic drugs,as well as between heat-clearing drugs and digestant drugs. The core prescription was Fattening Baby Pill. It could be divided into three categories.ConclusionIn the book,the treatment for infantile malnutrition should be based on the spleen and stomach,and the cold and warm drugs should be used at the same time,to attack the disease and tonify the body.
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    Study on the the relationship between "heat", "blood stasis" as well as "deficiency" and refractory nephropathy in children based on the theory of "Fu Xie" in traditional Chinese medicine
    LI Le, LI Bing, YANG Meng, GAO Xuguang, ZHAO Yongwang, ZHAI Wensheng.
    2023, 15 (1):  67-70. 
    Abstract ( 68 )   PDF (854KB) ( 132 )   Save
    The causes of refractory nephropathy in children are complex,and it is an intractable kidney disease in childhood. Its treatment is difficult and it is very likely to recur,and the prognosis is poor. At present,there are more and more researches on the theoretical guidance of Chinese medicine,and these researches have also been deepened,which has also unearthed the unique advantages of Chinese medicine in the treatment of clinical diseases. "Fu Xie" refers to the pathogenic factors hidden in the body without being manifested as a disease. The theory of "Fu Xie" shows its significant advantage in the prevention and treatment of children's refractory nephropathy. The author discusses the relationship between "heat","blood stasis" as well as "deficiency" and children's refractory nephropathy and the related treatment based on the theory of "Fu Xie" in TCM,which provides a new idea for the prevention and treatment of the disease with traditional Chinese medicine.
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    Observation of the clinical curative effect in the treatment of children with allergic rhinitis of lung meridian with latent heat based on the theory of "treating both lung and liver"
    XU Huan, CHEN Zhu, CHEN Hua.
    2023, 15 (1):  71-75. 
    Abstract ( 112 )   PDF (894KB) ( 117 )   Save
    ObjectiveBy observing the symptoms,signs,changes of serum eosinophils(EOS) and nasal secretion eosinophils(nasal EOS) before and after treatment with Qingre Tongqiao decoction,the clinical effect of Qingre Tongqiao decoction on children with allergic rhinitis(AR) will be objectively evaluated.MethodsFrom October 2020 to August 2021, in the pediatric outpatient department of the Second Affiliated Hospital of Guizhou University of Traditional Chinese Medicine, 60 children with allergic rhinitis were recruited, who met the TCM syndrome differentiation of lung meridian with latent heat. They were divided into observation group and control group by random single-blind control method, 30 cases in each group. The observation group was given oral Qingre Tongqiao decoction, 1 dose per day; the control group was given Xinyi Biyan pills orally, twice a day; both treatments lasted for 14 days. Observe the condition before and after treatment, and follow up for 1 month after the end of treatment.ResultsIn the control group, 1 case was lost during the study.(1) The total effective rate of the observation group was 90.0%(27/30), which was better than that of the control group(79.3%, 23/29), and the difference was statistically significant(P<0.05).(2)The total scores of TCM syndromes in the two groups after treatment were lower than those before treatment, and the observation group was lower than the control group, the differences being statistically significant(P<0.05). (3) The blood EOS of the two groups after treatment was lower than that before treatment, and the difference was statistically significant(P<0.01).(4) The EOS level of nasal secretions in the two groups after treatment was lower than that before treatment, and the observation group was lower than the control group, the differences being statistically significant(P<0.01).(5)Follow-up: there were 20 cases(66.7%) of recurrence in the observation group,which were lower than 25 cases(86.2%) in the control group, and the difference was statistically significant(P<0.05).ConclusionQingre Tongqiao decoction can significantly improve the symptoms of children with allergic rhinitis, reduce the level of EOS in nasal secretions, and inhibit nasal hyperresponsiveness and chronic nasal inflammation.
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    Evaluation of reliability and validity of Chinese Morisky medication adherence scale and its application in childhood asthma
    HUANG Lei, HU Ye, YIN Cunlin, GU Yuqin.Yancheng
    2023, 15 (1):  76-80. 
    Abstract ( 97 )   PDF (848KB) ( 22 )   Save
    ObjectiveTo evaluate the reliability and validity of Chinese version of Morisky medication adherence scale(MMAS-8) in asthmatic children,and to study the related factors affecting medication compliance in asthmatic children.MethodsThe children with asthma admitted to the Respiratory Clinic of Yancheng Children's Hospital from January 2021 to June 2022 were selected for a questionnaire survey. Cronbach α was used for internal consistency reliability evaluation,and Kaiser Meyer Olkin and Bartlett were used for validity testing. Multivariate ordinal Logistic regression was also used to analyze the independent factors associated with medication compliance in asthmatic children.ResultsA total of 130 children with asthma who met the requirements were screened and 126 valid questionnaires were returned. The Cronbach α value of the Chinese version of the MMAS-8 questionnaire was 0.724,the KMO value was 0.741,and the χ2 of Bartlett 's spherical test was 248.19(P<0.01).High medication compliance was significantly associated with ≤ 1 episode in the past six months,guardian being a parent,high awareness of asthma drugs and diseases,and disease duration>1 year.ConclusionThe Chinese version of Morisky has good reliability and validity in children with asthma,and poor medication compliance in children in the survey is correlated with guardians,number of attacks in the past six months,awareness of asthma drugs and diseases,and course of disease.
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    Investigation and analysis of sleep snoring status of children aged 2 to 6 years in Zhongshan City,Guangdong Province
    ZHU Jianping, WANG Guilan, CHEN Ang, LI Degeng, HUANG Lianhong, LIU Nan, LI Jian
    2023, 15 (1):  80-84. 
    Abstract ( 73 )   PDF (850KB) ( 21 )   Save
    ObjectiveTo investigate the snoring status and daytime behavior patterns of children aged 2 to 6 years in Zhongshan City,and analyze the correlation between snoring frequency and daytime behavior.MethodsFrom March 2018 to February 2019,1 880 children from 6 kindergartens in 5 districts of Zhongshan were selected by a stratified cluster random sampling method to conduct a questionnaire survey. The questionnaire was based on the clinical questionnaire of the Sleep Disorders Scale for Children from Sydney,Australia,and customized according to the situation in China.Totally 1 802 valid questionnaires were recovered.ResultsThe odds for children in the snoring group developing daytime behavioral symptoms were 1.51 times that of the children in the non-snoring group;when the frequency of snoring was less than three times per week,children with higher severity of snoring showed a higher incidence of daytime behavioral symptoms;children in the snoring group had higher frequency in daytime sleepiness,lower inattention,hyperactivity and incompatibility than non-snoring group;children with insufficient total sleep time per day,difficulty falling asleep,and supine position had a higher incidence of daytime behavioral symptoms.ConclusionCompared with non-snoring children,children with snoring have an increased risk of daytime behavior problems. Early intervention and treatment of children with snoring should be advocated.
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    A clinical case report of Rubinstein-Taybi syndrome and literature review
    ZHANG Xiaomin, QIN Zhiqiang.
    2023, 15 (1):  84-87. 
    Abstract ( 65 )   PDF (1042KB) ( 52 )   Save
    ObjectiveTo explore the genetic characteristics of Rubinstein-Taybi syndrome(RSTS).MethodsThe clinical data of a RSTS child was retrospectively analyzed.ResultsThe patient was female,more than 2 years old. She had have the characteristics of arched eyebrows,outward and downward inclination of eye fissure,hooked nose,short,flat and wide thumbs of both hands,being short in height,and mental retardation. Whole exon gene sequencing showed that there was a heterozygous mutation c.1824-1G>C(splicing) in CREBBP gene. The above mutation was not found in her parents. It was a spontaneous mutation.ConclusionA de novo mutation of CREBBP gene c.1824-1G>C(splicing) has been found,which enrich the gene mutation spectrum of RSTS.
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    Analysis of a family with Vici syndrome caused by EPG5 gene mutation
    XIN Shijie, LI Wei.
    2023, 15 (1):  88-91. 
    Abstract ( 64 )   PDF (1706KB) ( 9 )   Save
    ObjectiveTo explore the clinical features and gene mutation characteristics of Vici syndrome caused by EPG5 gene mutation,and provide the basis for genetic counseling and diagnosis.MethodsClinical data were collected,and DNA from peripheral blood samples of parents and the child was extracted. The child underwent whole-exome sequencing to detect suspicious gene mutations,and then Sanger sequencing was performed to verify the suspicious mutations,and bioinformatics prediction and analysis were performed.ResultsThe 5-month-old child was admitted to the hospital with complaint of "growth retardation and feeding difficulties for more than 4 months",the clinical manifestations were light color of skin and hair,microcephaly,discontinuous crying,no gaze,visible horizontal tremor in both eyes,and normal muscle tension in the limbs. Muscle strength was grade 3.Brain MRI showed an absence of the corpus callosum. Whole exon sequencing revealed EPG5 mutation on chromosome18,C.1924(exon9)C>T,p.R642X,1938(p.Arg642stop.1938) and C.5704(exon33)_C.5705(exon33)ins T,P.Y1 902 L.fs*2(p.Tyr1902Leu.fs*2),which was a compound heterozygous mutation: father with C.1924(exon9)C>T,p.R642X,1938(p.Arg642stop.1938);mother with C.5704(exon33)_C.5705(exon33)ins T,P.Y1 902 L.fs*2(p.Tyr1902Leu.fs*2).ConclusionThe C.1924(exon9)C>T,P.R642X,1938(p.Arg642stop.1938) in the child is an unreported mutation which is from father, the C.5704(exon33)C.5705(exon33)ins T,P.Y1 902 L.fs*2(p.Tyr1902Leu.fs*2) from mother enriches the variation spectrum of EPG5 gene and provides guidance for prenatal diagnosis and reproduction. 
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