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    Journal of Clinical Pediatrics    2024, 42 (1): 1-14.   DOI: 10.12372/jcp.2024.23e1129
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    Cited: CSCD(2)
    The China Neonatal Genome Project: towards a new future in the treatment of genetic diseases
    ZHOU Wenhao
    Journal of Clinical Pediatrics    2024, 42 (5): 379-383.   DOI: 10.12372/jcp.2024.24e0329
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    With the advancement of science and technology, screening and diagnostic techniques for neonatal genetic diseases have made great leaps forward, especially the application of next-generation sequencing (NGS) technology, which has greatly improved the efficiency and accuracy of clinical applications. However, in the face of rapid diagnosis, it has become a new challenge to provide effective treatments to improve the overall prognosis of children.This article will start from the China Neonatal Genome Project, comprehensively and in-depth discuss the current status of newborn genetic disease screening and treatment, focus on the key issues of personalized treatment research and application, and propose efforts for future directions.

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    Diagnosis and treatment philosophy and practice of macrolide-resistant Mycoplasma pneumoniae pneumonia in children
    YIN Yong, CHEN Jiande
    Journal of Clinical Pediatrics    2024, 42 (3): 177-181.   DOI: 10.12372/jcp.2024.24e0003
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    Since July 2023, China and even the world have experienced a peak outbreak of Mycoplasma pneumoniae pneumonia, which has brought a heavy burden to children's health, families, and society. Although macrolide antibiotics are the first choice recommended by the guidelines, the majority of hospitalized children with Mycoplasma pneumoniae pneumonia in this epidemic are resistant to macrolides. This has brought great challenges to the traditional diagnosis and treatment model, especially the increasing number of pulmonary embolism cases, which requires clinicians to think about and practice new diagnosis and treatment concepts.

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    Cited: CSCD(2)
    Following current challenges in the management of food allergies in pediatric patients
    HU Yan
    Journal of Clinical Pediatrics    2024, 42 (4): 282-284.   DOI: 10.12372/jcp.2024.24e0085
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    The clinical management of food allergy primarily involves the avoidance of allergenic foods and symptomatic treatment through multidisciplinary collaboration. Hypoallergenic formula plays a crucial role in providing nutrition for infants with milk protein allergy. It is imperative for doctors to select and standardize hypoallergenic formulas judiciously. Food ladder therapy has been employed in managing mild to moderate non-IgE-mediated food allergies in children. Individualized treatment approaches are the future direction for managing food allergies.

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    Development history of food for special medical purpose in China
    FENG Yi, CAI Wei
    Journal of Clinical Pediatrics    2024, 42 (2): 93-95.   DOI: 10.12372/jcp.2024.24e0002
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    Food for special medical purpose (FSMP) has undergone significant development in China. This paper provides an overview of the evolution of China’s special medical food industry, including its journey from its inception to independent research and development. Furthermore, it discusses the progress made in clinical application, product types, research and development capabilities, as well as regulation and standard management. The challenges and opportunities faced by the special medical food industry in China are also explored. As the domestic and international markets continue to expand and technology advances, FSMP will increasingly play a crucial role in the field of clinical nutrition therapy.

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    Journal of Clinical Pediatrics    2024, 42 (7): 567-572.   DOI: 10.12372/jcp.2024.24e0224
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    Interpretation of Catch-up growth in infants and young children with faltering growth: expert opinion to guide general clinicians
    MAO Meng, SHAO Jie, CHEN Jinjin, SHEN Lixiao
    Journal of Clinical Pediatrics    2024, 42 (5): 390-398.   DOI: 10.12372/jcp.2024.24e0163
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    Faltering growth is an important clinical signs for early identification of nutritional problems, and early identification and intervention of faltering growth in infants and young children is of great significance for improving their short-term and long-term health outcomes. Previous published guidelines and expert consensus lack a unified definition of faltering growth, which affects clinical identification, evaluation and standardized management. In March 2023, the Journal of Pediatric Gastroenterology and Nutrition published an article titled 'Catch-up growth in infants and young children with faltering growth: expert opinion to guide general clinicians'. It not only expounds the importance of catch-up growth, but also formulates practical consensus recommendations on how to properly define, evaluate and manage faltering growth, which has practical guiding value for clinicians. Based on the current situation of clinical practice in China, this paper interprets the recommendations in order to provide guidance and reference for clinicians to manage infants and young children with faltering growth in China.

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    Clinical characteristics and diagnosis of lupus nephritis in children
    XIA Zhengkun, WANG Ren
    Journal of Clinical Pediatrics    2023, 41 (12): 881-886.   DOI: 10.12372/jcp.2023.23e0979
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    Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease characterized by immune dysregulation and autoantibody formation. With the progress of treatment, the survival rate of SLE patients has improved significantly. Even so, lupus nephritis (LN) is associated with high morbidity and mortality. At present, there is a lack of data on LN in children, and its diagnosis, treatment and monitoring are mainly based on guidelines for adults. Treatment is mainly based on hormones and immunosuppressants. Recently, biologics have been used to treat LN with good results and no obvious adverse reactions. This article reviews the progress of epidemiology, clinical features, pathogenesis, diagnosis and treatment of LN in children.

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    Epidemiological characteristics of Mycoplasma pneumoniae in children with acute respiratory infections from 2019 to 2023: a single-center retrospective study
    LI Mingyi, SHEN Yuanheng, CHEN Feng, LI Yuanrui, ZHANG Minhua, WANG Juanjuan, SHEN Lisong, JIANG Limin
    Journal of Clinical Pediatrics    2024, 42 (6): 485-490.   DOI: 10.12372/jcp.2024.24e0242
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    Objective To investigate the positive rates of Mycoplasma pneumoniae (MP) and other pathogens in children with acute respiratory infection (ARTI) before, during and after COVID-19 pandemic in Shanghai. Methods The clinical data of children with ARTI who underwent respiratory 5-plex and influenza 3 plex tests in Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine from January 1, 2019 to December 30, 2023 were retrospectively analyzed. Results A total of 91825 ARTI cases were included, including 48729 male cases and 43096 female cases, and the median age was 5 (3-8) years old. Before the epidemic, there were 14096 cases, with 5126 positive cases of respiratory pathogens (36.4%); during the epidemic, there were 13366 cases, with 2963 positive cases (22.2%); and after the epidemic, there were 64363 cases, with 33510 positive cases (52.1%). There were significant differences in male proportion, age distribution, and positive rates of various pathogens among the pre-epidemic, epidemic, and post-epidemic groups of ARTI patients (P<0.05). The proportion of children>6 years old was higher in the pre-epidemic and post-epidemic groups, while the proportion of 0-3 years old was higher in the epidemic group (P<0.014). The positive rates of MP in various years and months between 2019 and 2023 showed statistical significance (P<0.05). The positive rate of MP was higher in January, February, and December 2019 (20.3%-37.7%), as well as in January to March 2020 (21.5%-35.3%). In 2021, only the positive rate of MP in December (25.8%) exceeded 20.0%, while all rates in 2022 were below this threshold. From April to June and August to December 2023, the positive rate ranged from 21.5% to 37.2%. The number of MP-positive cases was 23247, and there were statistically significant differences in gender and age distribution among the groups before, during, and after the epidemic (P<0.05). The proportion of MP-positive children>6 years old was higher in the pre- and post-epidemic groups, and the proportion of 0-3 years old in the epidemic group was higher (P<0.014). Conclusions During the period from 2019 to 2023, there have been certain alterations in the epidemiological characteristics of various pathogens associated with ARTI, particularly MP. Moreover, significant changes have occurred in both age distribution and seasonal epidemiological patterns of MP.

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    Progress in diagnosis and treatment of Bardet Biedl syndrome
    LIN Jiao, XU Xinxing, WANG Chuankai, JIANG Liqiong, WANG Chunlin
    Journal of Clinical Pediatrics    2024, 42 (2): 157-163.   DOI: 10.12372/jcp.2024.22e1314
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    The Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder affecting multiple systems, primarily manifesting as retinal lesions, polydactylism (or hyperdactylism), obesity, intellectual diminution, sexual duct development deficiency, and renal abnormalities. To date, 26 disease-causing genes have been identified, all of which are localised to the primary cilia, with the BBS1, BBS2 and BBS10 genes being the most common genetic causes. There is no curative therapy for this disease, and symptomatic supportive treatment is the main focus. This paper reviews the disease from the perspectives of clinical characteristics, diagnostic criteria, causative genes, the current situation of BBS patients in China, and treatment, with a view to providing reference for the clinical diagnosis and treatment of this disease.

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    Problems and countermeasures in the diagnosis of food allergy
    LI Haiqi
    Journal of Clinical Pediatrics    2024, 42 (4): 277-281.   DOI: 10.12372/jcp.2024.24e0084
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    Food allergy is very difficult to diagnose due to their complex pathophysiology, wide range of clinical symptoms, and lack of precise biomarkers. Oral food challenge test is the gold standard for confirming food allergy. The standardized diagnosis and treatment of food allergy requires the clinician to understand the basic knowledge related to allergy, so as to facilitate the correct selection of diagnostic methods and reasonable interpretation of test results.

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    Current status of diagnosis and treatment of protracted bacterial bronchitis in children
    LI Juan, DAI Jihong
    Journal of Clinical Pediatrics    2024, 42 (4): 373-378.   DOI: 10.12372/jcp.2024.22e1723
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    Protracted bacterial bronchitis (PBB) is a persistent infectious disease of the bronchial intima caused by bacteria. PBB is the leading cause of chronic cough in children at home and abroad. At present, it has been included in the guidelines for chronic cough in many countries and has been improved and updated. The diagnosis of PBB includes clinical diagnostic criteria and microbiology-based diagnostic criteria. Currently, amoxicillin-clavulanate potassium is recommended as the first choice for the treatment of PBB. When children are allergic to penicillin or resistant to amoxicillin-clavulanate potassium, cephalosporins or macrolides can be selected. Although cough relief after 2 weeks of appropriate antibiotic treatment is a critical part of the diagnosis of PBB, there is currently no consensus on the optimal course of antibiotics treatment. The prognosis of PBB is generally good, but frequent recurrence and repeated antibiotic use are common. There is also a risk of progression to bronchiectasis if PBB is recurrent and associated with Haemophilus influenzae infection. Up to now, the understanding of PBB in China started relatively late, and there are still deficiencies in diagnosis and treatment. In order to standardize PBB diagnosis and therapy, this article primarily presents the current state of PBB diagnosis and treatment and highlights issues that still need to be resolved in this area.

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    New insights into the pathogen of pertussis and strategies for antibacterial infection
    HUA Chunzhen, WANG Chuanqing, YANG Zhangnyu, HUANG Lisu
    Journal of Clinical Pediatrics    2024, 42 (6): 480-484.   DOI: 10.12372/jcp.2024.24e0513
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    Pertussis is an acute respiratory infectious disease caused by Bordetella pertussis, which has a long history and can affect people of all ages. The re-emergence of pertussis has become a global issue of great concern, including in China. Since 2022, the number of whooping cough cases reported in China has increased rapidly. The genotype of the main antigen (pertussis toxin) of the current Bordetella pertussis epidemic strain has changed, and the corresponding antigen is different from the vaccine strain, resulting in immune escape, which is one of the important reasons for the recurrence of pertussis. At present, the resistance of Bordetella pertussis to macrolide antibiotics is an important reason for clinical treatment failure, so it is no longer recommended as the first choice for anti-infection treatment of pertussis. For children over 2 months of age with no contraindications to sulfanilamide, trimethoprim-sulfamethoxazole oral administration is recommended as the preferred anti-infection regimen for pertussis catarrhal stage and spasmodic cough stage. Piperacillin or cefoperazone-sulbactam are recommended for children under 2 months of age or with critical symptoms. The improvement or development of a new generation of pertussis vaccine with the same antigen as the prevalent strain will be a long-term strategy to enhance the immune protection of the susceptible population and control the epidemic of the disease.

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    Macrolide resistance in hospitalized children with Mycoplasma pneumoniae pneumonia and its clinical diagnosis and treatment
    GU Yutong, YANG Fen, YE Jianmin, HUA Li, LI Jing, DING Guodong
    Journal of Clinical Pediatrics    2024, 42 (3): 182-186.   DOI: 10.12372/jcp.2024.24e0025
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    Objective To summarize the epidemiological characteristics and drug resistance rate of Mycoplasma pneumoniae (MP) infection in hospitalized children from April to October 2023, and analyze the clinical and therapeutic characteristics of MPP children during this period. Methods Throat swab samples of children with community-acquired pneumonia were collected on the day of hospitalization. The tNGS pathogen and MP macrolide-resistance gene mutation were detected, and MP positive rate and MP macrolide-resistance rate were analyzed. Patients with MPP were grouped by the admission date into non-epidemic group (June) and epidemic group (September), and further divided into resistant group and sensitive group in accordance to whether the macrolide-resistance genes were positive or not. The clinical features of the children were compared among the groups. The treatment differences were discussed comparatively between the non-epidemic resistant group and the epidemic resistant group. Results The median age of 1425 children (686 boys and 739 girls) with community-acquired pneumonia was 6 (3-8) years, and the MP positive rate was 57.1% (813 cases). The positive rate of MP varied significantly from April to October for each month (P<0.001), and MP positive rate increased month by month (12.5%-71.6%). Among 813 hospitalized children with MPP, 627 were positive for macrolide-resistance gene mutation, and the total drug resistance rate of MP was 77.1%. The drug resistance rate of MP was 93.9% in the period of non-epidemic (April to June), and significantly decreased to 71.9% in the epidemic period (August to October). The drug resistance rate of MP varied significantly from April to October for each month (P<0.001). There were 76 children in the non-epidemic group and 189 in the epidemic group. Compared with the non-epidemic group, the length of hospital stay were longer and the levels of CRP and LDH were higher in the epidemic group, with statistical significance (P<0.05). There were 64 children in the sensitive group and 201 in the resistant group. Compared with the sensitive group, the hospital stay was longer and the LDH level was higher in the resistant group, and the difference was statistically significant (P<0.05). Of the 201 children with macrolide-resistant MPP, 71 were in the non-epidemic resistant group and 130 were in the epidemic resistant group. Compared with the non-epidemic resistant group, the time to defervescence after methylprednisolone was longer and the use rate of tetracycline antibiotics was higher in the epidemic resistant group, and the difference was statistically significant (P<0.05). Conclusions The epidemic period of MP is from August to October 2023. Compared with normal days, the infection rate of MP is higher during the epidemic period, but the macrolide-resistant rate of MP in hospitalized children is lower. MPP during this epidemic period triggered stronger immune response, displayed as longer hospital stay and higher inflammatory factor level. The possibility of a new prevalent strain should be considered. This prevalent strain was less sensitive to combine treatment of macrolide plus corticosteroids, and tetracycline drugs are needed to control infection.

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    Cited: CSCD(2)
    Clinical features and risk factors of macrolide-resistant severe Mycoplasma pneumoniae pneumonia in children
    CHEN Mengxue, LI Jingyang, YANG Fen, TIAN Ye, LI Jing, DING Guodong
    Journal of Clinical Pediatrics    2024, 42 (3): 187-192.   DOI: 10.12372/jcp.2024.24e0026
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    Objective To explore the clinical features and risk factors of macrolide-resistant severe Mycoplasma pneumoniae pneumonia (SMPP) in children. Methods The clinical data of children with macrolide-resistant Mycoplasma pneumoniae pneumonia (MPP) who were hospitalized in the Department of Pediatric Respiratory Medicine from March to September 2023 were retrospectively analyzed. According to the severity of the disease, the patients were divided into macrolide-resistant severe group and macrolide-resistant non-severe group. The clinical characteristics of the two groups were compared, and the risk factors affecting SMPP were analyzed. Results A total of 224 children with macrolide resistant MPP were included, including 132 in the severe group (65 boys and 67 girls), with a median age of 7.0 (5.0-9.0) years. There were 92 patients in the macrolide-resistant non-severe group, 46 boys and 46 girls, with a median age of 7.0 (5.0-9.0) years. The results of binary logistic regression analysis showed that prolonged fever time, increased D-dimer level and lung consolidation were independent risk factors for predicting the occurrence of macrolide-resistant SMPP (P<0.05), while higher lactate dehydrogenase and IgE levels may be correlated with the occurrence of macrolide-resistant SMPP (P<0.05). ROC curve analysis showed that the duration of fever, lactate dehydrogenase and D-dimer had moderate diagnostic value in predicting the occurrence of macrolide-resistant SMPP (AUC>0.8, P<0.05). All patients with macrolide-resistant Mycoplasma pneumoniae pneumonia were cured and discharged after treatment. The length of hospital stay in the macrolide-resistant severe group was 7.0 (6.0-9.0) days, significantly longer than that in macrolide-resistant non-severe group [6.0 (5.0-7.0) days] (P<0.01). The hospitalization cost in the macrolide-resistant severe group was 12283 (10836-15012) yuan, which was significantly higher than that in the macrolide-resistant non-severe group [9769 (8756-11642) yuan], and the differences were statistically significant (P<0.01). Conclusions Children with macrolide-resistant SMPP experienced more prolonged fevers and hospital stays, markedly elevated inflammatory markers, and severe alterations in lung imaging, all of which raised the financial strain on their families.

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    Acute cerebellar ataxia associated with SARS-CoV-2 infection in children: a case report
    ZHANG Yan, WANG Caihong, WANG Jinhui, YU Hui, LIN Caimei
    Journal of Clinical Pediatrics    2024, 42 (5): 456-460.   DOI: 10.12372/jcp.2024.23e0227
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    To investigate the clinical characteristics and treatment of acute cerebellar ataxia in children associated with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. The clinical features, neuroimages, therapy and prognosis of a girl with acute cerebellar ataxia associated with SARS-CoV-2 infection who was hospitalized in Children′s Hospital of Fudan University at Xiamen were retrospectively analyzed and the related literature were summarized. The patient was a girl aged 4 years and 11 months. She was admitted due to cough for 2 weeks and fever for 3 days. On the 3rd day of admission, she was treated by intravenous human immunoglobulin injection with a total amount of 2g/kg (divided into 4 days) and with methylprednisolone 2mg/kg. After significant improvement, she was discharged from hospital with oral prednisone acetate at 1mg/kg/d. At 11 days of follow-up, the girl had returned to normal, and prednisone was stopped. Three articles and 3 children with acute cerebellar ataxia associated with SARS-CoV-2 infection were reported. The age of onset was 5 years old, 13 years old, and 15 years old, respectively. All 3 cases were males, and the onset was 1-2 weeks after SARS-CoV-2 infection. All of them had ataxia gait. Two patients treated with intravenous methylprednisolone, and they were recovered to normal within 2 months. Acute cerebellar ataxia caused by SARS-CoV-2 infection usually appears 1 to 2 weeks after infection, and the clinical manifestations were ataxic gait, which was mostly caused by post-infection immune response, and the prognosis was good.

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    Focus on the identification of digestive symptoms associated with food allergy
    LI Zailing
    Journal of Clinical Pediatrics    2024, 42 (4): 285-290.   DOI: 10.12372/jcp.2024.24e0162
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    The symptoms of food allergy present nonspecifically, with 60% of children showing digestive system symptoms such as rectal bleeding, diarrhea, constipation, etc. Clinically, it is highly prone to misdiagnosis and missed diagnosis, leading to over-treatment and delayed treatment, exacerbating the condition and affecting the growth and development of affected children. Three criteria should be followed in the diagnosis of food allergies and associated digestive disorders: (1) clinical symptoms; (2) laboratory testing (oral food challenge) to determine allergens; and (3) a direct correlation between food and symptoms. Rectal bleeding is more common in food protein-induced proctocolitis, and in the neonatal period, it needs to be differentiated from infectious diarrhea and necrotizing enterocolitis. In infancy, it needs to be differentiated from anal fissures, intestinal polyps, intussusception, Meckel’s diverticulum, intestinal vascular malformations, very early-onset inflammatory bowel disease and congenital immunodeficiency disease-related diarrhea. Diarrhea is common in food protein-induced enteropathy and food protein-induced enterocolitis syndrome and needs to be differentiated from lactose intolerance, celiac disease, and diarrhea caused by other reasons. Whether food allergy can cause constipation is still debated, and it needs to be differentiated from congenital megacolon and functional constipation.

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    Prenatal diagnosis, genetic counseling and follow-up of fetuses with isodicentric Y chromosomes
    GUO Caiqin, ZHAO Li, XIAO Jianping, YANG Lan, TANG Ye, LIU Jun, ZHAO Xin
    Journal of Clinical Pediatrics    2024, 42 (1): 46-52.   DOI: 10.12372/jcp.2024.23e0380
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    Objective To analyze prenatal diagnosis, genetic counseling and follow-up of five fetuses with isodicentric Y chromosomes and to provide reference for the clinical treatment. Methods From January 2018 to August 2022, 7 347 pregnant women with prenatal diagnostic indications were selected, and fetal amniotic fluid was detected by conventional G-banding karyotype and chromosomal microarray analysis (CMA) simultaneously, and then verified by fluorescence in situ hybridization (FISH). Subsequently, parental karyotypes were analyzed. After genetic counseling, pregnant outcomes were followed up. Results Five fetuses with de novo idic(Y) were detected and all of these Y chromosomes had the same breakpoint in Yq11.2. Among them, four fetuses (cases 2~5) presented with a mosaic 45, X karyotype except the fetus of case 1. Prenatal ultrasonography indicated that all five fetuses were male and no obvious structural abnormalities were found in the other four fetuses except for case 1 with possible bilateral clubfeet. After personalized genetic counseling combined with the ultrasonography results, cases 1~2 chose to continue the pregnancy while cases 3~5 terminated the pregnancy. The child of case 1 was followed up to four years old. The surgical effect of strephenopodia was good, and the mild developmental retardation was improved after rehabilitation training. The child of case 2 was followed up to 2 years old, and no abnormal phenotype was found yet. Case 3 had been pregnant again and had given birth to a healthy baby girl while cases 4 and 5 were still in preparation for pregnancy. Conclusions The combined application of cellular and molecular genetic techniques is helpful for the prenatal diagnosis of the fetuses with idic(Y). Reasonable genetic counseling and long-term follow-up can provide an important reference for subsequent clinical diagnosis and treatment.

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    Clinical characteristics of 20 rare diseases in children based on specific disease data
    ZHAO Shuai, MA Ang, LUO Shuying, XIA Songchen, HAO Chanjuan, LI Wei, WEI Haiyan, ZHANG Yaodong
    Journal of Clinical Pediatrics    2024, 42 (2): 110-115.   DOI: 10.12372/jcp.2024.23e0781
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    Objective The purpose of this study is to explore and evaluate the clinical characteristics of children with different rare diseases by using the database of children's rare diseases in our hospital, so as to provide a basis for promoting the prevention, diagnosis and treatment of children with rare diseases. Methods The data of children in our rare disease database (Phase I) were analysed from 16th May 2011 to 29th January 2023 by child admission. The International Classification of Diseases (ICD-10) was used to classify and count the number of cases mined, gender, geography, age, genetic tests, repeat visits and hospitalisations. Results A total of 3491 children were included in the database, covering 20 rare diseases, representing 9.7% (20/207) of the rare disease catalogue. The ratio of male to female patients was 1.30:1 (1975 males/1516 females). Methylmalonic acidemia (1024 cases, 29.33%), congenital adrenocortical hyperplasia (944 cases, 27.04%) and phenylketonuria (191 cases, 5.47%) were the top three rare diseases. Genetic testing data were included in 220 cases, accounting for 6.30% of the total number of diseases. Hospitalised cases covered 16 provinces, with Henan province accounting for 96.60% of cases (1988/2058). Rare diseases in infancy accounted for 42.36% (1479/3491) of the total number of cases. Multiple osteofibrous dysplasia with precocious puberty syndrome was the highest percentage of repeat hospitalisation for rare diseases at 24.24% (8/33), while children with Kalman syndrome had the highest rate of repeat outpatient visits at 51.85% (14/27). Conclusion Based on the database of special diseases, we analyzed the clinical characteristics of 20 rare diseases in children, which provided a reference for promoting the prevention, control, detection and research of rare diseases in children in our province.

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    From practice to consensus, from consensus to practice: interpretation of Chinese expert consensus on the diagnosis and treatment of respiratory syncytial virus infections in children (2023 edition)
    HUANG Lisu, LIN Luona, ZHANG Xianli
    Journal of Clinical Pediatrics    2024, 42 (6): 553-557.   DOI: 10.12372/jcp.2024.24e0523
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    Respiratory syncytial virus (RSV) infection is a global health issue that poses a serious threat to the health of children under the age of 5. This article closely follows the “Chinese expert consensus on the clinical diagnosis and treatment of respiratory syncytial virus infection in children (2023 edition)”, and makes an in-depth interpretation of key issues such as the window period for RSV pathogenic diagnosis, late-onset severe disease of RSV, and supportive treatment of RSV.

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    Food allergies associated with atopic dermatitis in children: scientific cognition and standardized management
    WANG Hua
    Journal of Clinical Pediatrics    2024, 42 (4): 291-296.   DOI: 10.12372/jcp.2024.24e0086
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    Primary care pediatricians often confuse the diagnosis between atopic dermatitis and food allergy. However, allergens are not the sole factor in the onset of atopic dermatitis, and not all patients with atopic dermatitis have food allergies. Consequently, there are pressing issues in contemporary clinical practice that need to be resolved, including a proper knowledge of the role that food allergies play in the pathophysiology of atopic dermatitis, scientific detection and identification of food allergies, and avoiding unreasonable dietary restrictions.

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    Renal pathologic classification and treatment strategy in children with lupus nephritis
    GAO Chunlin
    Journal of Clinical Pediatrics    2023, 41 (12): 887-894.   DOI: 10.12372/jcp.2023.23e0916
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    Lupus nephritis (LN) is the most common glomerular disease in children, with a more severe onset and progression compared to adults. The prognosis of LN in children is worse than other glomerular diseases and has lifelong effects, although the etiology remains unclear. This article provides an overview of the current diagnosis and treatment status of LN in children, along with a brief description of the treatment for each type of LN based on the latest international guidelines. LN was diagnosed according to the 2019 EULAR/ACR classification criteria for systemic lupus erythematosus. Renal biopsy pathology is an important diagnostic method at present. Treatment for proliferative and non-proliferative LN includes initial therapy and maintenance therapy, following recommendations from adult guidelines. Rational and proactive treatment is crucial for inducing disease remission, preventing relapse, and improving prognosis.

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    Research progress on mechanism of lipid metabolism in asthma
    CHEN Shaotian, YANG Nan
    Journal of Clinical Pediatrics    2024, 42 (5): 461-466.   DOI: 10.12372/jcp.2024.23e0201
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    Asthma is one of the most common chronic respiratory diseases, affecting all age group. Its prevalence and social healthcare costs are increasing every year. The results of numerous studies in recent years have conclusively demonstrated the role of lipid molecules as powerful signaling molecules that regulate a variety of cellular biological processes. By regulating different cells in the airways of asthma patients, they influence the occurrence and development of the disease. Therefore, this article summarizes the potential metabolic biomarkers in asthma, and explores the mechanisms of lipid metabolism in asthma pathogenesis on different cells to provide ideas for personalized asthma treatment from the lipidomics and asthma studies that have been developed in recent years.

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    Analysis of autoantibody expression and prognostic factors of immune thrombocytopenia in 299 children
    XU Longwei, CAO Feng, ZHANG Yaodong, ZHANG Yinghui
    Journal of Clinical Pediatrics    2024, 42 (4): 318-322.   DOI: 10.12372/jcp.2024.22e0717
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    Objective To analyze the characteristics of autoantibody expression and prognosis influencing factors in children with immune thrombocytopenia (ITP). Methods The clinical data of 299 children with newly diagnosed ITP hospitalized from September 2020 to September 2021 were retrospectively analyzed. Results A total of 299 children (171 boys and 128 girls) with ITP were included, and the median age was 2.7 (1.0-4.6) years. Among the 296 ITP children who completed autoantibody spectrum detection, 114 (38.5%) showed positive autoantibody spectrum expression. One hundred and fourteen patients (38.5%) of the 296 ITP children who finished autoantibody spectrum detection had positive autoantibody spectrum expression. Among them, 101 patients (88.6%) were positive for anti-nuclear antibody, 59 (51.8%) were positive for anti-SSA /RO52KD antibody, and 52 (45.6%) were positive for anti-SSA /RO60KD antibody. Of 299 children with ITP, 205 were cured. Compared with the cured group, the uncured group had a higher proportion of age ≥ 1 year old, positive antinuclear antibody, anti-SSA/RO52KD antibody, anti-SSA/RO60KD antibody and bleeding score≥3, and a lower proportion of preceding infection and gammaglobulin alone, with statistically significant differences (P<0.05). The binary logistics regression analysis showed that age ≥ 1 year old, positive antinuclear antibody, and bleeding score ≥ 3 were independent risk factors for ITP prognosis (P<0.05), and a history of preceding infection was an independent protective factor for ITP prognosis (P<0.05). Conclusions Autoantibody spectrum antibody expression is common in children with ITP. Age, history of preceding infection, antinuclear antibody and bleeding score are associated with ITP prognosis.

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    Analysis of prognostic risk factors of IgA vasculitis with nephritis in children
    NIE Xiaojing, CHEN Yi
    Journal of Clinical Pediatrics    2023, 41 (12): 895-902.   DOI: 10.12372/jcp.2023.23e0697
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    IgA vasculitis (IgAV) is the most common systemic small vessel vasculitis in children, and it is called IgA vasculitis with nephritis (IgAVN) when it affects the kidneys. Renal damage eventually lead to chronic kidney disease in about 20% children with IgAVN, and accounting for 1%~2% of all childhood end-stage renal disease (ESRD). Therefore, it is important to identify the risk factors for the prognosis of IgAVN in children and give timely and effective intervention for the prognosis of IgAVN. This article reviews the risk factors affecting the prognosis of IgAVN in children, in order to provide reference for clinical decision-making.

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    Analysis of the prevalence of common respiratory pathogens in children in Hainan region from 2012 to 2021
    DENG Xi, TAN Hui, ZHANG Xuemei, WAN Kecheng, LU Xiongfu, ZHU Houcai, YANG Zijiang, HUO Kaiming
    Journal of Clinical Pediatrics    2024, 42 (4): 339-344.   DOI: 10.12372/jcp.2024.23e0973
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    Objective To analyze the epidemiological characteristics of common respiratory tract pathogens in children with acute respiratory tract infections (ARTI) in Hainan Province, and to provide reference for the prevention, diagnosis and treatment of ARTI in children. Methods The children with ARTI who were hospitalized in several hospitals in Hainan Province from March 2012 to December 2021 were selected. The serum IgM antibody levels of influenza virus A (FluA), influenza virus B (FluB), respiratory syncytial virus (RSV), adenovirus (ADV), parainfluenza virus (PIV), Mycoplasma pneumoniae (Mp), Chlamydia pneumoniae (Cp), Legionella pneumophila (Lp) and Q fever Rickettsia (COX) were detected by indirect immunofluorescence method. An infection with a pathogen was characterized as having an IgM antibody positive for it. The epidemiological and clinical data of respiratory tract infection cases were analyzed retrospectively. Results In this study, a total of 59312 children were eligible for inclusion, and the IgM positive detection rate of respiratory pathogens was 37.69% (22357/59312). Among the 22 357 IgM positive children, 28255 IgM positive times were found, of them, 35.23% were IgM positive rate for FluA, FluB, RSV, ADV and PIV (9953/28255). The top 3 pathogens were Mp, FluB and PIV, accounting for 86.54% (24451/28255), and the IgM positive rate was 28.58% (16953/59312), 9.50% (5636/59312) and 3.14% (1862/59312), respectively. Dual pathogens were detected in 4039 cases, and the most common combination was Mp and FluB. The detection rates of FluA, FluB, ADV, Cp and Lp were the highest in spring and the lowest in autumn. The detection rates of PIV, Mp and COX were the highest in summer and the lowest in winter. The detection rate of RSV was the highest in summer and the lowest in autumn. The positive detection rate of respiratory pathogen IgM varied between 2012 and 2021, with the highest being in 2013 (78.65%) and the lowest being in 2021 (15.72%). The differences between the years were statistically significant (P<0.001). Conclusions The prevalence of various respiratory pathogens in Hainan region has its seasonality. The corresponding protective measures can be formulated according to their epidemic characteristics to deal with the respiratory infection during the peak incidence season for children.

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    Fetal intervention of severe congenital diaphragm hernia: Chinese practice
    CHEN Gongli, QI Hongbo
    Journal of Clinical Pediatrics    2024, 42 (1): 24-27.   DOI: 10.12372/jcp.2024.23e0877
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    Fetal diaphragmatic hernia, a birth defect, significantly contributes to neonatal mortality. Despite advancements in neonatal care, anesthesia and surgery, the mortality rate associated with severe cases continues to be alarmingly high, posing persistent challenges in therapy. The innovative technique of fetoscopic tracheal occlusion represents a novel therapeutic approach for severe diaphragmatic hernia. This paper details our experiences with this method, aiming to offer valuable insights to fetal medical centers in China.

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    Noninvasive prenatal testing: moving into the next decade
    WANG Yanlin
    Journal of Clinical Pediatrics    2024, 42 (1): 15-19.   DOI: 10.12372/jcp.2024.23e1192
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    Noninvasive prenatal testing (NIPT) was one of the most inspiring breakthroughs in prenatal diagnosis over the last ten years, leading the technology advancements in perinatal medicine. Through the analysis of maternal peripheral blood cffDNA by low-coverage whole-genome sequencing, NIPT has realized the efficient prenatal screening of Down syndrome, and it can be extended to screen other genomic disorders such as aneuploidies and copy number variations, realizing the early non-invasive diagnosis of fetal diseases. Despite the outstanding outcomes, NIPT still needs more evidence-based medical support to expand its clinical application in the future. This article explores the current challenges and future development trends of NIPT from the perspectives of identifying indications, analyzing abnormal results, ethical issues in reporting and interpreting results, the role of NIPT in fetal Mendelian disorder screening, and the development of non cffDNA based NIPT technology.

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    Analysis of eradication effect and influencing factors of triple therapy of Helicobacter pylori in children
    GENG Tian, YU Zhongsu, ZHOU Xixi, LIU Bo, ZHANG Huihua, LI Zhongyue
    Journal of Clinical Pediatrics    2024, 42 (1): 63-69.   DOI: 10.12372/jcp.2024.22e0590
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    Objective To explore the eradication effect and influencing factors of triple therapy of Helicobacter pylori (H.pylori) in children from Chongqing. Methods Gastric mucosa samples were collected from 156 children with suspected H.pylori infection who visited the gastroenterology clinic. H.pylori culture, drug susceptibility test and gene detection were performed. Children diagnosed with H.pylori infection received triple therapy eradication. The eradication rate of triple therapy was calculated and the influencing factors of efficacy were analyzed. Results Among 156 children with suspected H.pylori infection, 138 met the diagnostic criteria for H.pylori infection. Among them, 109 children (53 boys and 56 girls) were treated with standard triple therapy (omeprazole + amoxicillin + clarithromycin) for 14 days, with an average age of (9.6±3.0) years, and 64 (58.7%) were successfully eradicated from H.pylori infection. The eradication rate of clarithromycin sensitive strain was 81.6% (40/49), which was significantly higher than that of drug-resistant strain (34.8%, 16/46), the difference was statistically significant (P<0.01). Of the 95 children, 87 underwent genetic testing. The eradication rate of clarithromycin sensitive strains was 76.2% (32/42), which was significantly higher than that of drug-resistant strains (42.2%, 19/45), and the difference was statistically significant (P<0.01). Gender, age, endoscopic diagnosis, histopathological appearance of mucosal tissue based on severity of inflammation, CYP2C19 gene polymorphism, vacA and cagA virulence genes were not correlated with the eradication rate of standard triple regimen (P>0.05). Conclusions Standard triple therapy is not suitable for the eradication of H.pylori in children in Chongqing area, and individualized treatment based on drug sensitivity test is a better choice.

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    Promoting the application of new genetic testing technologies in the screening of fetal diseases with a scientific attitude
    QI Qingwei
    Journal of Clinical Pediatrics    2024, 42 (5): 384-389.   DOI: 10.12372/jcp.2024.24e0303
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    With the development of second-generation sequencing technology, the target diseases of prenatal screening for fetal genetic diseases have gradually progressed from common chromosomal aneuploidy to chromosome microdeletion/microduplication syndromes and single-gene disorders, and the screening strategy has also gradually progressed from chromosomal abnormalities to comprehensive screening strategies for fetal chromosomal aneuploidy, copy number variations and monogenic variations. In the current clinical practice, cell-free DNA testing has become the mainstream technology for prenatal screening, but there is still an urgent need to improve the scope of the target diseases and the detection performance. It is urgent to correctly evaluate the accuracy and screening efficiency of the new genetic testing technology and define its clinical pathway. It is also important to improve the ability of the pre-testing and post-testing counselling of the practitioners, and to evaluate the feasibility of clinical application of new technologies and the accessibility of comprehensive services, and further improving the management system of prenatal screening and prenatal diagnosis are practical issues that need to be addressed urgently.

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    Clinical and pathological characteristics and prognosis of lupus nephritis in children
    YIN Qiuxia, CHENG Xueqin, ZHAO Fei, DING Guixia, ZHAO Sanlong, ZHU Chunhua
    Journal of Clinical Pediatrics    2023, 41 (12): 908-913.   DOI: 10.12372/jcp.2023.23e0276
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    Objective To analyze the clinical features of children with lupus nephritis (LN) and the factors affecting curative effect and prognosis. Methods The clinical data of children with LN who were newly diagnosed in the nephrology department from July 1, 2010 to December 31, 2019 were retrospectively analyzed. Results Ninety-eight children (19 boys and 79 girls) with LN were included, and the mean age of onset was (11.0±2.0) years. Of the 98 children with LN, 91 were accompanied by proteinuria, 84 were accompanied by hematuria, 37 were accompanied by varying degrees of edema and 21 were accompanied by hypertension. Among the extrarenal manifestations, 73 children had rash and 9 had lupus encephalopathy. There were 82 cases of leukopenia, 71 cases of anemia and 87 cases of thrombocytopenia. Compared with non-nephrotic syndrome (NS) group, the proportions of male, fever, hematuria, acute kidney injury, positive anti-double-stranded DNA antibody, and thrombocytopenia in NS group were higher, and the differences were statistically significant (P<0.05). Among the 98 children, the initial induction scheme was prednisone + cyclophosphamide in 61 cases, prednisone + mycophenolate mofetil in 22 cases, prednisone + tacrolimus in 8 cases, prednisone + azathioprine in 3 cases, and prednisone alone in 4 cases. Among the 96 children who underwent renal biopsy, the pathological classification was type Ⅱ in 4 cases, type Ⅲ in 9 cases, type Ⅳ in 45 cases, type Ⅴ in 8 cases, type Ⅳ + type Ⅴ in 25 cases, and type Ⅲ + type Ⅴ in 5 cases. From the onset of the disease to 6 months of treatment, 81 children (82.7%) had complete remission, 12 had partial remission, and 5 had no remission. Compared with the complete remission group, the proportion of irregular compliance in the non-complete remission group was higher, and the difference was statistically significant (P<0.05). A total of 92 patients were followed up, the median follow-up time was 5.2 (1.8-5.2) years, and 64 patients (69.6%) recurred. Compared with the non-recurrence group, the proportion of children with irregular compliance, >9 years old, complicated hypertension, complicated acute kidney injury and positive anti-double-stranded DNA antibody in the recurrence group was higher, and the difference was statistically significant (P<0.05). Conclusions The clinical manifestations of LN children are varied, and the curative effect is related to the compliance of the children. Recurrence was associated with age, compliance, combination of hypertension and acute kidney injury, and positive anti-double-stranded DNA antibody.

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    Clinical analysis of 386 cases of secondary thrombocytosis in children
    WANG Li, LIU Aiguo, WANG Yaqin, HUANG Yongjian, HOU Ling, ZHANG Ai, WANG Songmi, HU Qun
    Journal of Clinical Pediatrics    2024, 42 (5): 425-428.   DOI: 10.12372/jcp.2024.23e0156
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    Objective To understand the clinical characteristics of secondary thrombocythemia in children, and to help clinicians improve their diagnosis and treatment. Methods The clinical data of children with secondary thrombocythemia admitted from January to December 2021 were retrospectively analyzed to summarize the causes of the disease, age and gender distribution, and characteristics of inflammatory factors. Results Three hundred and eighty-six children with secondary thrombocythemia were included, with a mean age of onset of (2.0±0.3) years, and 294 children (76.2%) were<3 years old. The median platelet count was 626.5 (567.8-701.0)×109/L, which peaked at 8.0 (7.0-11.0) days of the disease course and then gradually declined.143 children were regularly monitored for blood counts during the recovery period, and platelets returned to normal at 10.0 (7.0-14.0) days of the disease course. The most common cause of secondary thrombocythemia was infection (94.6%), and the three most common pathogens of infection were Mycoplasma pneumoniae, fungi, and adenovirus. The levels of interleukin (IL)-1β, IL-2 receptor, IL-6, IL-8, IL-10, and tumor necrosis factor (TNF)-α were higher in children with secondary thrombocythemia than in those with normal platelets, and the difference was statistically significant (P<0.05). Conclusion The secondary thrombocythemia is most common in children under 3 years of age, and the most common cause is infection. Platelets can be normalized after treatment for the primary disease, and no inhibition of platelet aggregation and anticoagulation is needed in all children except Kawasaki disease.

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    Study on the correlation between the changes in hemoglobin level during pregnancy and perinatal outcomes of twins
    MA Jue, XUE Ruihong, XIE Jinliang, WANG Yanlin
    Journal of Clinical Pediatrics    2024, 42 (1): 28-34.   DOI: 10.12372/jcp.2024.23e0956
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    Objective To study the correlation between maternal hemoglobin level during pregnancy and perinatal outcome of twins. Methods The clinical data of pregnant women with twin pregnancies who underwent prenatal examination and delivery from May 2015 to November 2022 were retrospectively analyzed. Results A total of 2524 women with twin pregnancies were included. The mean hemoglobin (Hb) in early pregnancy was (118.0±10.9) g/L, higher than that in late pregnancy, (116.6±13.0) g/L, and the difference was statistically significant (P<0.01). The incidence of iron deficiency anemia was 22.1% in early pregnancy and 27.7% in late pregnancy. High Hb (Hb>130g/L) might be associated with an increased risk of neonatal asphyxia (AOR=2.10, 95%CI: 1.13-3.87) and small for gestational age infants (AOR=1.39, 95%CI: 1.09-1.98). Moderate to severe anemia during early pregnancy might increase the risk of small for gestational age infants (AOR=2.61, 95%CI: 1.52-4.49). Mild anemia in early pregnancy did not increase the risk of perinatal adverse outcomes. If mild anemia in early pregnancy was corrected in late pregnancy, the risk of neonatal asphyxia (AOR=0.27, 95%CI: 0.07-0.97) might be reduced compared with those with persistent anemia, and the birth weight of larger fetuses in twins is higher (P<0.05). Conclusions Compared with those with persistent anemia in twin pregnancies, the risk of neonatal asphyxia was reduced in those whose anemia was corrected in late pregnancy. Therefore, the necessity of iron supplementation and Hb monitoring for anemic pregnant women with twin pregnancies should be emphasized.

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    The dynamic changes and application value of MUC2 and sIgA in intestinal mucus layer of infants with food allergy
    DAI Nini, GAO Yajuan, SUN Jinbo, ZHANG Juan, LI Zailing
    Journal of Clinical Pediatrics    2024, 42 (4): 297-304.   DOI: 10.12372/jcp.2024.23e0852
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    Objective To dynamically monitor and analyze the changes of fecal mucin 2 (MUC2) and secretory immunoglobulin A (sIgA) levels during the clinical treatment process of infants with food allergy, and to investigate the usefulness of food allergy’s interaction with sIgA and MUC2. Methods Fifty-two infants diagnosed with food allergy who received outpatient treatment from July 2022 to June 2023 were selected as the food allergy group. Simultaneously, 52 non-allergic diseases infants were chosen as the control group. The levels of fecal MUC2 and sIgA were compared between the two groups. Results There were 23 boys and 29 girls in the food allergy group and 26 boys and 26 girls in the control group. There were no statistically significant differences in age, delivery mode, feeding method, introduction of complementary foods and family history of allergic diseases between the two groups (P>0.05). The levels of fecal MUC2 and sIgA in the food allergy group were higher than those in the control group [(37.81±14.91) μg/mL vs. (25.33±14.29) μg/mL; 182.4(150.2-202.7) μg/mL vs. 147.7(131.4-157.9) μg/mL], and the differences were statistically significant (P<0.001). At the 2nd and 4th week of follow-up, fecal MUC2 level of children with food allergy group gradually decreased, but there was no statistical significance between groups (P>0.05). The level of fecal sIgA increased gradually, and the difference between groups was statistically significant (P<0.05). Binary logistic regression and ROC curve analysis showed that fecal MUC2 and sIgA both had area under the ROC curves above 0.7 (P<0.001), and the combination of the two could increase the diagnosis specificity. Conclusions There were differences in fecal MUC2 and sIgA levels between the two groups. With the improvement of clinical symptoms of children with food allergy, fecal MUC2 levels showed a downward trend and sIgA levels gradually increased, which may serve as potential biomarkers for the diagnosis of food allergy. The two groups' fecal MUC2 and sIgA levels varied from one another. With the improvement of clinical symptoms of children with food allergy, fecal MUC2 level had a downward trend and sIgA level gradually increased, suggesting that these markers could be useful for food allergy diagnosis.

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    Construction of the Shanghai children's rare disease registration database and summary of phased data
    LI Niu, LI Lei, CHEN Huiwen, WANG Jian, ZHANG Hao
    Journal of Clinical Pediatrics    2024, 42 (2): 102-109.   DOI: 10.12372/jcp.2024.23e0769
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    Objective To summarize the construction plan of the Shanghai Children Rare Diseases Registry Database, and to retrospectively analyze the demographic characteristics and disease spectrum of the patients included in the database. We aim to clarify the distribution characteristics of rare diseases in children, and to provide data support for the construction of a high-level research-based patient cohort and the systematic management of patients with rare disease. Methods Based on the disease catalog from National Rare Diseases Registry System, we build a regional rare disease registration database that can connect to the hospital information system. Descriptive studies were conducted to analyze patient data in the database. Results A total of 6341 cases of rare disease patients diagnosed from 2008 to 2021 were included in the database, covering 109 kinds of diseases. The proportion of outpatients and inpatients was 59.4% (3764 cases) and 40.6% (2577 cases), respectively. The male to female ratio was 1.36∶1. Langerhans cell histiocytosis (11.3%), familial dilated cardiomyopathy (7.9%), hemophilia (5.5%), and neurofibroma (5.4%) accounted for the most cases. With the wide application of high-throughput sequencing technology, the number of pediatric rare disease patients with definite diagnosis has increased year by year, and more than 80% of children can get a clear diagnosis before the ten-year old. Conclusions The present study established a rare disease registry database that includes both outpatients and inpatients. We have described the disease spectrum and demographic characteristics of children with rare diseases, and also reflected the progress in the field of diagnosis of children’s rare diseases in recent years. This study will provide basic data support for further inclusion of more rare diseases and building a higher level database of children's rare diseases in multiple centers.

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    Clinical characteristics of 348 children with infectious mononucleosis
    HUANG Bo, DONG Yanying, SONG Linlan
    Journal of Clinical Pediatrics    2024, 42 (8): 678-683.   DOI: 10.12372/jcp.2024.23e0776
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    Objective To analyze the clinical characteristics and laboratory findings of 348 children with infectious mononucleosis (IM). Methods Clinical features, complications and laboratory findings of children hospitalized with IM from January 2019 to February 2022 were included. The clinical characteristics, complications and laboratory indicators were retrospectively analyzed. Results A total of 348 children with IM were included, 185 male (53.2 %) and 163 female (46.8 %), aged 1-15 years old, mainly 4-6 years old (preschool group) (49.1 %) ; The season of onset was mainly in summer, with a high incidence in June-August. The main clinical symptoms were fever in 289 cases (83.0 %), eyelid edema in 192 cases (55.2 %), nasal obstruction 182 cases (52.3 %). Compared with the ≤3 years old and 4-6 years old groups, the >6 years old group had a lower proportion of fever and a higher proportion of pharyngitis (P<0.05). The incidence of angina and lymphadenopathy in school-age group was significantly higher than ≤3 years old group (infant group) (P<0.05), and the incidence of hepatosplenomegaly in preschool group was significantly higher than the other two groups (P<0.05). The symptom of nasal obstruction in infant group was significantly higher than other two groups (P<0.05). The differences in lymphocyte counts, CD4+/CD3+, CD8+/CD3+, CD4+/CD8+, glutamate aminotransferase, glutamyl transpeptidase, and lactate dehydrogenase between the ≤3, 4-6, and >6 year old groups were statistically significant (P<0.05). Complications in children with IM were predominantly liver injury in 133 cases (38.2 %), followed by neutropenia (53 cases, 15.22 %), and sepsis (27 cases, 7.75 %). Compared to the non-hepatic injury group, the hepatic injury group had a lower proportion of males, older age, higher lymphocyte counts, and lower neutrophil-lymphocyte ratios (NLR) and monocyte-lymphocyte ratios (MLR), with a statistically significant difference (P<0.05). Conclusion IM in children has a high incidence, predominantly in preschool children, with variable and atypical early clinical manifestations and liver injury as the most common complication. Gender, age, lymphocyte count, NLR and MLR may be associated with liver injury.

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    Successful rescue of progression from Fanconi anemia to acute myeloid leukemia by allogeneic hematopoietic stem cell transplantation with decitabine maintenance: a case report
    DAI Yinliang, HE Hailong, FAN Liyan, LI Jie, LU Jun, XIAO Peifang, LING Jing, ZHENG Jiajia, DU Zhizhuo, HU Shaoyan
    Journal of Clinical Pediatrics    2024, 42 (1): 75-79.   DOI: 10.12372/jcp.2024.22e1673
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    Objective To investigate the feasibility and effectiveness of sequential decitabine after allogeneic hematopoietic stem cell transplantation (allo-HSCT) in the treatment of children with Fanconi anemia (FA) progressing to acute myeloid leukemia (AML). Methods The clinical data of an 8-year-old girl with progression from FA to AML who received haploid transplantation (younger brother as donor) followed by decitabine maintenance therapy were retrospectively analyzed. Results The child presented with anemia at 6 years old and Fanconi anemia was diagnosed at 8 years old. The child was treated with cyclosporine and testosterone undecanoate for 6 years without response, presenting with progressive trilineage decline and ineffective platelet transfusions, and finally was diagnosed with AML by bone marrow examination. The results of bone marrow NGS test showed c.3348+1G>A homozygous variation in FANCA gene. The patient was treated with FLAG (fludarabine+cytarabine+granulocyte colony-stimulating factor) chemotherapy followed by a myeloablative preconditioning regimen based on whole body irradiation. Granulocyte and platelet were engrafted 15 days after transplantation. After transplantation, the child was given a reduced dose of cyclosporine and she maintained grade Ⅱ skin graft-versus-host disease until 1 year after transplantation. From 6 months after transplantation, decitabine was administered every 2 months for a total of 6 times, and the expression level of WT1 was monitored. It has now been nearly 6 years since the transplantation, and the child is in event-free survival. Conclusions The allo-HSCT combined with decitabine sequential therapy is effective in the treatment of AML progression from FA.

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    The forty-three year development of newborn screening in china: starting with Chen Ruiguan
    ZHAO Zhengyan
    Journal of Clinical Pediatrics    2024, 42 (2): 89-92.   DOI: 10.12372/jcp.2024.24e0027
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    After forty-three years of development, China’s newborn screening program has achieved remarkable success. Professor Chen Ruiguan, not only a pioneer in the field of newborn screening in China but also the founder of this discipline. This article comprehensively reviews the development of newborn screening in China, including the expansion of screened diseases and technological innovations, the promulgation of relevant national policies, the significant achievements of newborn screening, and its impact on families and society. It also looks ahead to future directions, commemorating Professor Chen’s outstanding contributions.

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    Cited: CSCD(2)
    Analysis of risk factors for early death of acute promyelocytic leukemia in children
    YAO Qianghua, WANG Yingchao, WANG Dao, LIU Yufeng
    Journal of Clinical Pediatrics    2024, 42 (1): 53-57.   DOI: 10.12372/jcp.2024.22e0649
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    Objective To analyze the clinical characteristics of early death in newly diagnosed children with acute promyelocytic leukemia (APL), and to explore the direct causes of death and the risk factors leading to early death. Methods The clinical data of newly diagnosed APL children admitted from January 2013 to December 2020 were retrospectively analyzed. Results A total of 103 children with APL (56 boys and 47 girls) were included. The median age of onset was 9.0 (7.0-13.0) years old. There were 24, 41 and 38 children in low, medium and high risk groups, respectively. Early death occurred in 13 children. Compared with the survival group, the early death group had higher proportions of initial white blood cell count (WBC) ≥100×109/L, prothrombin time (PT) ≥3 s, D-dimer ≥9mg/L, bone marrow promyelocytes percentage ≥90%, and high risk, and the differences were statistically significant (P<0.05). Among the 13 children who died early, 10 were boys and 3 were girls. The median time from diagnosis to death was 4.0 (2.0-7.0) days. All the 13 children died of hemorrhage, including 13 cases of intracranial hemorrhage and 5 cases of intracranial hemorrhage combined with pulmonary hemorrhage. Multivariate logistic regression analysis showed that WBC≥10×109/L at first diagnosis (OR=17.27, SE=1.12, 95%CI: 1.92-155.04) was an independent risk factor for early death. Conclusions The early case fatality rate of children with APL is high, and WBC≥10×109/L at first diagnosis is an important predictor of early death in children with APL.

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    New trends in the diagnosis and treatment of rare diseases in the digital medical era
    WANG Jian, LI Niu
    Journal of Clinical Pediatrics    2024, 42 (2): 96-101.   DOI: 10.12372/jcp.2024.23e1260
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    The high-throughput sequencing technology of genomic DNA has greatly improved the diagnostic efficiency of rare diseases, but currently there are still some patients who have not been diagnosed. In recent years, various detection techniques such as transcriptome, proteomics, metabolomics and lipidomics, and epigenetics have gradually been applied in clinical practice, making it possible to comprehensively diagnose rare disease patients based on these multiomics methods. On the other hand, with the increase of confirmed cases, how to effectively integrate patient clinical data and build rare disease databases to meet the construction needs of high-quality research-oriented patient cohorts has become an increasingly important issue for governments around the world. More importantly, the development of big data models that integrate multiomics information can promote the application of artificial intelligence and machine learning in rare disease research. This will contribute to the clinical evaluation and precise classification of rare disease patients, and effectively improve the research and development efficiency of innovative diagnostic and therapeutic technologies such as gene therapy. Rare disease research has entered the era of digital medicine, which is also a practical need to meet the precise diagnosis and personalized treatment of patients at a higher level.

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    TRIM8 gene related pediatric nephrotic syndrome, seizures and developmental retardation: a case report
    SONG Yuanjin, WANG Yibing, FENG Dongning, SUN Lili, LI Fei, SUN Qing
    Journal of Clinical Pediatrics    2024, 42 (4): 351-354.   DOI: 10.12372/jcp.2024.22e1037
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    To explore the clinical characteristics and mutation spectrum of TRIM8 related pediatric nephrotic syndrome, seizures and developmental retardation in a child and related literature were reviewed. A boy aged 2 years and 6 months was admitted to the hospital due to fever for 5 days and recurrent convulsions for 2 days. The child received rehabilitation training for developmental retardation after birth. Physical examination revealed the child had mild eyelid edema. Laboratory examination showed hypoalbuminaemia (albumin 24.6g/L). Repeated urinalysis indicated massive proteinuria (+++), accompanied by microscopic hematuria. Genetic testing showed the boy carried a de novo heterozygous mutation of c.1375C>T in TRIM8 gene, and his parents were wild-type. TRIM8 gene variants can lead to syndromes with neuro-renal characteristics. Sequencing of the TRIM8 gene should be considered in patients with focal segmental glomerulosclerosis that starts in childhood, especially in patients with neurological abnormalities such as epilepsy and developmental retardation.

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    Clinical characteristics analysis of Mycoplasma pneumoniae necrotizing pneumonia and bacterial necrotizing pneumonia
    JI Xiaodan, ZHAO Shunying
    Journal of Clinical Pediatrics    2024, 42 (3): 193-197.   DOI: 10.12372/jcp.2024.23e0044
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    Objective To analyze the clinical features of Mycoplasma pneumoniae necrotizing pneumonia (MPNP) and bacterial necrotizing pneumonia (BNP) and to observe the changes of inflammatory indicators. Methods The clinical data of 72 children diagnosed with MPNP or BNP from 2016 to 2021 were retrospectively analyzed. Results There were 43 children in MPNP group and 29 children in BNP group. The median age was 7.9 years in MPNP group and 1.9 years in BNP group (P<0.01). In the BNP group, the rates of shortness of breath, triple concave sign, and non-invasive ventilator use were 79.3%, 37.9%, and 51.7%, respectively, whereas in the MPNP group, the rates were 37.2%, 9.3%, and 18.6% (P<0.05). Streptococcus pneumoniae and Staphylococcus aureus were the predominant pathogens in the BNP group, making up 76% of all cases. The median C-reactive protein and procalcitonin levels in the BNP group within 3 days of disease course were 83 mg/L and 29.9 ng/mL respectively, which were higher than those in the MPNP group (14 mg/L and 0.1 ng/mL) (P<0.05). At days 4-7 and 8-14 of disease course, the median neutrophil ratio in MPNP group was 78.2% and 80.4%, while that in BNP group was 65.8% and 59.8% (P<0.05). There was no significant difference in the total number of white blood cells between the two groups at days 1-3 of disease course (P>0.05). The median blood D-dimer concentration in the MPNP group was 4.1 mg/L, which was higher than that in the BNP group (3 mg/L) (P<0.05). The pleural fluid leukocytes in MPNP group were mainly mononuclear cells, while those in the BNP group were mainly multinucleated cells. The glucose level of pleural fluid in BNP group was (2±2) mmol/L, which was significantly lower than that in the MPNP group [(6±2) mmol/L, P<0.01)]. The time of pulmonary cavity necrosis in MPNP group was (23.4±10.0) days, while that in BNP group was (10.4±5.7) days (P<0.01). In MPNP group, pulmonary embolism was observed in 8 cases, bronchoscopic plastic formation was observed in 7 cases, and sequelae (lumen stenosis and occlusion) were observed in 21 cases. Pyopneumothorax occurred in 12 cases of BNP group. Conclusions In BNP group, C-reactive protein and procalcitonin increased significantly at days 1-3 of disease course. The children in BNP group were prone to dyspnea and pyopneumothorax. In MPNP group, the proportion of neutrophil increased significantly after 4 days of disease course, the level of D-dimer in blood was higher, the occurrence of pulmonary cavity necrosis was late, and pulmonary embolism was easy to occur, and the plastic formation could be seen under bronchoscopy, and the incidence of sequelae of lumen stenosis and occlusion was high.

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    Clinical features and MRI characteristics of mitochondrial encephalomyopathy in children
    WEI Siwen, LI Bei, JIANG Minxiang, HU Wen
    Journal of Clinical Pediatrics    2024, 42 (4): 323-327.   DOI: 10.12372/jcp.2024.22e0831
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    Objective To summarize the clinical features and MRI manifestations of the acute onset of mitochondrial encephalomyopathy (ME) in children, so as to improve the understanding of the disease. Methods The clinical and imaging data of 12 children with confirmed ME from March 2018 to December 2021 were retrospectively analyzed. Results Twelve cases of ME were included, 5 males and 7 females, with a median age of 8 years and 6 months. The main symptoms included stroke-like episodes (8 cases, 66.7%) and headache (7 cases, 58.3%); laboratory tests showed increased serum lactate in 10 cases (83.3%), and genetic testing was positive in 9 cases (75%). 11 cases of cranial MRI scanning detected the lesion, and the lesion areas all showed large patchy T1WI low signal, T2WI/T2-FLAIR high signal, of which nine cases involved cortical and subcortical regions, with the temporoparieto-occipital lobe being the most susceptible area, and the other two cases symmetrically involved the basal ganglia/brainstem and cerebellar hemispheres/brainstem, and six cases were combined with cerebral atrophy; diffusion-weighted imaging (DWI) in seven cases showed that the diffusion of the disease was limited in six cases; magnetic resonance angiography (MRA) in four cases showed that there was an increase in the number of branches of the middle cerebral artery of the affected side; arterial spin labelling (ASL) in three cases showed that the lesion area was highly perfused; and MRS in six cases suggested that the lesion area was highly perfused; and spectroscopy (MRS) suggested that elevated lactate peaks were detected in the lesion area in six cases. Conclusions The most common clinical symptoms of ME in children are stroke-like episodes. Genetic testing may be negative in a few cases, and increased serum lactate is common but not specific; MRI has some characteristic features, including unilateral temporoparieto-occipital cortex and subcortical patchy T2-FLAIR high signals, restricted dispersion and hyperperfusion of the lesion in the acute phase, and increased peaks of lactate in the brain tissue of the lesion, with an increase in the branches of the middle cerebral artery on the affected side.

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    Correlation between overweight and obesity and lung function in children with asthma
    LI Dan, ZHANG Rui, LIU Feng, ZHAO Deyu
    Journal of Clinical Pediatrics    2024, 42 (5): 429-433.   DOI: 10.12372/jcp.2024.23e0554
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    Objective To study the correlation between overweight and obesity and lung function in children with asthma. Methods A total of 368 children with asthma attending the respiratory outpatient clinic from July 2022 to September 2022 were selected and categorized into 235 cases (63.8%) in the non-overweight and obese group, 57 cases (15.5%) in the overweight group, and 76 cases (20.7%) in the obese group according to the body mass index (BMI), and the indexes of lung function were tested in the three groups of children. These included forced vital capacity (FVC), forced expiratory volume at the end of the first second (FEV1), one-second rate (FEV1/FVC), forced expiratory flow rate (FEF) accounted for 25%, 50%, 75% of forced vital capacity (FEF25, FEF50, FEF75), forced expiratory flow rate in the middle period (FEF25-75), peak expiratory flow (PEF). Results Among overweight and obese children, the proportion of poorly controlled asthma was higher, and the difference was statistically significant when compared with the non-overweight and obese group (P<0.05). Among 368 children with asthma, BMI values were negatively correlated with FEV1/FVC (r=-0.22, P<0.05) and positively correlated with each of the FVC, FEV1, FEF25, FEF50, FEF75, and FEF25-75 (P<0.05). In children with acute exacerbation and remission, the results of correlation between BMI values and lung function indicators were the same as before. Conclusions The proportion of poorly controlled asthma was higher in overweight and obese children. With the increase of BMI, the FEV1/FVC of children with asthma showed a decreasing trend. Therefore, the negative effects of overweight and obesity on children with asthma were mainly manifested in the central airway.

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    Fetal cardiac intervention for critical congenital heart disease of fetus: a report of 5 cases
    CAI Leiyi, ZHAO Liqing, WANG Lei, JIAO Xianting, ZHANG Yongjun, WU Yurong, ZHU Hong, XIA Hongping, SUN Kun, CHEN Sun
    Journal of Clinical Pediatrics    2024, 42 (1): 35-39.   DOI: 10.12372/jcp.2024.22e1355
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    Objective To explore the feasibility and short-term efficacy of fetal cardiac intervention (FCI) for critical congenital heart disease. Methods The clinical data of all the fetuses who underwent FCI in the intrauterine diagnosis and treatment center from August 2018 to May 2022 were included, including basic information from perinatal to postnatal, FCI surgical information, fetal echocardiogram information, etc., and the fetuses were followed up until 3 months after birth to analyze the feasibility, effectiveness and safety of FCI technology. Results Seven fetuses were included, 5 of whom underwent FCI surgery with a 100% success rate (5/5), including 2 cases of critical aortic stenosis (CAS) and 3 cases of pulmonary atresia with intact ventricular septum (PA/IVS). The median gestational age at the time of FCI surgery was 29+2(28+6-32+4) weeks. The echocardiographic indexes of 5 fetuses after FCI were significantly improved. All five fetuses were full-term, with a median gestational age of 39+2(38-39+4) weeks. After birth, aortic valvuloplasty was performed in 2 patients with CAS and percutaneous balloon dilatation of pulmonary valve was performed in 3 patients with PA/IVS. One case of CAS with cardiac insufficiency died in the neonatal period, and the other 4 cases had good prognosis during follow-up. Conclusion FCI is a safe and effective technique that is expected to improve the prognosis of critical congenital heart disease.

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    Clinical features and prognosis of acute necrotizing encephalopathy in 26 children
    XIAO Huimei, YU Chulan, LI Biyun, WANG Lingan, LIU Fang, ZHANG Jie, CHANG Yanqun
    Journal of Clinical Pediatrics    2024, 42 (4): 328-332.   DOI: 10.12372/jcp.2024.23e0014
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    Objective To summarize the clinical characteristics, diagnosis and treatment and prognosis of acute necrotizing encephalopathy of childhood (ANEC). Methods The clinical data of ANEC patients from June 2016 to December 2022 were retrospectively analyzed. Survivors were followed up through telephone. Survivors' life quality was measured using the pediatric overall performance category scale (POPC). Results A total of 26 children with ANEC were included, with a male to female ratio of 1.6:1 and a median age of 36.0 (23.0-69.0) months. The most common season was summer (42.3%), followed by winter (34.6%). Influenza virus was the most common preceding infection (34.6%), followed by human herpesvirus 6B and SARS-CoV-2. All patients had fever and different degrees of consciousness disorder, and 24 had convulsions. Symmetrical thalamic involvement (100%) was the typical change in imaging, with basal ganglia (50.0%), brainstem (61.5%), cerebellum (26.9%) and other sites involved. Twenty-three patients received methylprednisolone shock therapy, and the in-hospital fatality rate was 23.1% (6/26). The cumulative case fatality rate 6 months after discharge was 30.7% (8/26). The 14 surviving children were followed up regularly for 6 months, and 11 received rehabilitation treatment. One child received two points for the POPC, four received three, six received four, one received five, and two received six. The POPC results of 3 patients with ANEC after SARS-CoV-2 infection at 3 months follow-up were 2 in 2 children and 6 in one child. Conclusions ANEC occurs frequently in summer and winter in South China, and can be induced by SARS-CoV-2 infection. The typical signs of ANEC are fever, convulsion, and disturbance of consciousness, and the typical imaging changes were bilateral thalamic involvement. Early immunotherapy and comprehensive rehabilitation training can reduce the severity of neurological sequelae.

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    Meta-analysis of clinical efficacy of nusinersen in the treatment of children with spinal muscular atrophy
    HE Guanlan, WEI Qiufen, LI Na, CHEN Shaoping, LIU Yunyuan, LIAO Shasha, TANG Xiuneng
    Journal of Clinical Pediatrics    2023, 41 (12): 946-954.   DOI: 10.12372/jcp.2023.23e0303
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    Objective Meta-analysis was used to evaluate clinical efficacy in children with spinal muscular atrophy treated with nusinersen. Methods Cochrane Library, Embase, PubMed, Web of Science, ClinicalTrial.gov, CBM, CNKI, Wanfang and VIP databases were searched from inception to December 31, 2022. Stata 14.0 was used for meta-analysis after two researchers independently screened the literature, extracted data, and evaluated the risk of bias in the included studies. Results A total of 14 cohort studies were included, involving 1274 SMA patients <18 years of age. During therapy, motor function indicators showed significant improvement in the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND), Hammersmith Infant Neurological Examination Part 2 (HINE-2) score, Hammersmith Functional Motor Scale Expanded (HFMSE) and Revised Upper Limb Module (RULM) score, and combined mean differences were 9.08(95%CI: 7.17-10.99), 2.08(95%CI: 1.26-2.90), 3.83(95%CI: 2.15-5.50) and 2.42(95%CI: 1.33-3.52), respectively. The clinical improvement rates were 0.77(95%CI: 0.71-0.82), 0.39(95%CI: 0.31-0.48), 0.53(95%CI: 0.33-0.72), and 0.56(95%CI: 0.49-0.63), respectively. Conclusions The motor function of children with SMA type 1, 2, and 3 was significantly improved by nusinersen. Limited by the quality and sample size of the included studies, the above conclusions need to be verified by more high-quality studies.

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    Clinical characteristics and genotype analysis of adenosine deaminase 2 (ADA2) deficiency in China: a report of three cases
    ZHOU Yang, WU Yali, DING Yan
    Journal of Clinical Pediatrics    2024, 42 (2): 116-120.   DOI: 10.12372/jcp.2024.22e0958
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    Objective To summarise the clinical features and genotypic characteristics of three children with adenosine deaminase 2 (ADA2) deficiency and to improve understanding of the disease. Methods The clinical features of three children with ADA2 deficiency were retrospectively analysed and genetically analysed using exome sequencing (ES). The activity of ADA2 enzyme in the plasma of the patients was measured using a kit. The clinical and genotypic features of the disease were summarised. Results All three children in our group had ADA2 gene variants. Case 1 had recurrent fever, rash, and convulsions as the main clinical manifestations, combined with stroke, accompanied by markedly elevated inflammatory indexes, and there were compound heterozygous variants in the ADA2 gene: c.139G>T and c.484T>C variants. Case 2 had recurrent fever and rash as the main clinical manifestations, combined with gastrointestinal perforation and stroke during the course of the disease, with markedly elevated inflammatory indexes. ES identified compound heterozygous variants of c.916C>T and c.1069G>A in the ADA2 gene. In Case 3, the patient had recurrent fever and cough as the main clinical manifestations, combined with myocarditis, accompanied by markedly reduced immune function. ES identified c.849T>G homozygous variants in ADA2 gene; Plasma ADA2 enzyme activity was found to be significantly reduced in case 1 and 2. Conclusion ADA2 deficiency is rare in China, with variable clinical features, and mastering its clinical features and genetic characteristics can help improve the diagnosis level.

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    Clinical Features And Genetic Characteristics Of Epilepsy Associated With CHD2 Gene Variants
    ZHANG Xiaoli, WANG Mengyue, ZHANG Chenyu, LI Jialin, MA Yichao, WANG Junling, LI Xiaoli, HAN Rui, XU Dan, JIA Tianming
    Journal of Clinical Pediatrics    2024, 42 (2): 121-126.   DOI: 10.12372/jcp.2024.22e1638
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    Objective To analyze the clinical features and genetic characteristics of patients with epilepsy associated with CHD2 gene variants. Methods The clinical features, electroencephalogram (EEG), genotypes and responses to the anti-seizure medications (ASM) of 6 patients with CHD2 gene variants were retrospectively analyzed. Results The onset age of seizures in the 6 patients (5 males and 1 female) ranged from 20 months to 12 years. Multiple seizure types were observed, including focal seizures in 3 cases, generalized tonic-clonic seizures in 3 cases, eyelid myoclonus with or without absence seizures in 2 cases, atypical absence seizures in 1 case, epileptic spasms in 1 case, myoclonic seizures in 1 case and tonic seizures in 1 case. Three patients were diagnosed with epilepsy syndrome, of which 2 were Jeavons syndrome and 1 was Lennox-Gastaut syndrome. Two cases were photosensitive. All 6 patients had comorbidities, including 6 patients 6 were intellectual disability, 3 attention deficit hyperactivity disorder, 2 autism spectrum disorders, and 1 mental disorder. 4 patients carried de novo mutations and the other 2 were maternal origin in the CHD2 gene. Of these, 3 were nonsense variants, 2 were missense variants and 1 was 3.58-Mb deletion including CHD2. Within the follow-up of 5 years to 15 years, 4 of the 5 patients were effective with regular ASM. Two patients achieved seizure-free more than 2 years, 1 patients achieved seizure-free more than 1 year and 8 months. Conclusion Epileptic seizures are common clinical phenotype of patients with CHD2 gene variants. The common seizure types include focal and generalized tonic-clonic seizures, and the age of onset of epilepsy varies widely. Patients with Jeavons syndrome have poor prognosis. Valproate may show a positive effect on epilepsy with CHD2 gene variation. Mental disorder is a rare clinical phenotype.

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    Analysis of clinical features and related influencing factors of diabetic ketoacidosis in children
    WANG Jing, LIU Li, CHENG Anna, WANG Renjian, CHEN Tingting, XU Xiuhe, HUANG Yujuan
    Journal of Clinical Pediatrics    2024, 42 (4): 333-338.   DOI: 10.12372/jcp.2024.23e0994
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    Objective To investigate the clinical features and related influencing factors of newly diagnosed type 1 diabetes mellitus (T1DM) starting with diabetic ketoacidosis (DKA) in children, in order to improve the early identification of high-risk DKA children by clinicians and improve their survival prognosis. Methods The clinical data of 214 newly diagnosed children with T1DM admitted to the hospital from January 1, 2015 to December 31, 2021 were retrospectively analyzed. The patients were divided into DKA group and non-DKA (NDKA) group and the clinical features and laboratory examination were compared between the two groups. The multivariate logistic regression analysis was used to identify the related influencing factors of DKA occurrence in children. Results A total of 214 newly diagnosed T1DM children were included, 110 patients (51.4%) in the DKA group and 104 (48.6%) in the NDKA group. The typical clinical symptoms of diabetes such as polydipsia, polyuria, polyphagia and weight loss were more common in NDKA group, while gastrointestinal symptoms, neuropsychiatric changes and dehydration were more common in DKA group (P<0.05). The variables that were significant in univariate analysis (age, preceding infection, symptom duration, plasma C-peptide and blood glucose) were further included in multivariate logistic regression analysis, and the results showed that preceding infection (OR=7.541, 95%CI: 3.315-17.151), symptom duration (OR=0.989, 95%CI: 0.980-0.999), plasma C-peptide (OR=3.044, 95%CI: 1.571-5.899) and blood glucose (OR=5.652, 95%CI: 2.582-12.373) were independent factors influencing the occurrence of DKA in children. Conclusions Children with newly diagnosed T1DM should be cautious of developing DKA if they have a history of preceding infection, short-term symptoms, low plasma C-peptide, and high blood sugar.

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