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    Journal of Clinical Pediatrics    2024, 42 (1): 1-14.   DOI: 10.12372/jcp.2024.23e1129
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    Clinical characteristics and genetic analysis in Chinese patients with Menke-Hennekam syndrome
    TANG Yanan, YE Xiantao, GU Xuefan, YU Yongguo, XIAO Bing, SUN Yu
    Journal of Clinical Pediatrics    2023, 41 (8): 613-617.   DOI: 10.12372/jcp.2023.22e1597
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    ObjectiveTo explore the clinical phenotype and identify genetic variations in Chinese patients with Menke-Hennekam syndrome (MKHK). Methods The clinical and genetic data of seven children with MKHK were retrospectively analyzed. Results All of the seven children are presented with psychomotor developmental delay, variable degree of intellectual disability, short stature, and facial dysmorphism (including short and upslanted palpebral fissures, telecanthi, depressed nasal bridge, short nose, long philtrum, protruding or low-set ears and micrognathia), accompanied by other manifestations (2/7 feeding problems, 4/7 visual impairment, 3/7 hearing impairment, 3/7 cerebral anomaly, 2/7 distal limb malformation). The genetic findings of patientsinvolve six different variants: five missense and one in-frame deletion), all of which arose de novo. c.5218C>T and c.5225T>A (NM_004380.3) variants have not been reported previously in literature. Conclusion MKHK is a rare autosomal dominant genetic disease, most of which are caused by heterozygous missense variation in the end of exon 30 and the beginning of exon 31 of CREBBP. This study revealed six de novo variants of CREBBP, further expanding the genetic spectrum of MKHK.

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    Resistance mechanism and treatment of carbapenem resistant Pseudomonas aeruginosa
    YU Hui
    Journal of Clinical Pediatrics    2023, 41 (8): 561-565.   DOI: 10.12372/jcp.2023.23e0487
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    Pseudomonas aeruginosa is a common opportunistic pathogen of nosocomial infection, which is widely distributed in the hospital environment and can survive for a long time. Carbapenems antibiotics play an important role in the treatment of serious infections caused by Pseudomonas aeruginosa. However, the outbreak of carbapenems resistant Pseudomonas aeruginosa is particularly prominent in recent years, which has made clinical treatment facing great challenges. This article introduces the main resistance mechanism of Pseudomonas aeruginosa to carbapenems antibiotics and summarizes the application of various clinical treatment schemes, and provides a reference clinical rational use of antibiotics and treatment of carbapenems resistant Pseudomonas aeruginosa infection

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    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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    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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    Childhood encephalopathy: a group of diseases associated with various diseases
    ZOU Liping
    Journal of Clinical Pediatrics    2023, 41 (9): 641-643.   DOI: 10.12372/jcp.2023.23e0639
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    Encephalopathy is a serious and complex disease that affects the structure and function of the brain, which can cause severe neurological symptoms and even death. Encephalopathy can be divided into two types: acute encephalopathy (acute brain dysfunction) and chronic encephalopathy (chronic brain dysfunction). Acute encephalopathy is a heterogeneous disorder consisting of multiple syndromes that can occur in any age group, but is commonest in infants and preschoolers. Acute encephalopathy can be classified according to the pathogens of previous infections, or biological and clinicopathological features, and the etiology is complex and diverse. Among them, acute necrotizing encephalopathy needs to be identified. Chronic encephalopathy in children includes developmental encephalopathy and chronic traumatic encephalopathy in children with family abuse. Children with encephalopathy can show cognitive impairment, language retardation, psychomotor retardation, and other manifestations of brain dysfunction such as convulsions. Genetic testing is one of the important methods to help identify the cause of chronic encephalopathy in children. The article introduces the different etiology and possible clinical symptoms of encephalopathy to help clinicians diagnose early and give timely treatment.

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    Report a case of α-ketoadipic aciduria caused by compound heterozygous variant of DHTKD1 gene
    WANG Hongxia, PAN Xiang, LU Jun
    Journal of Clinical Pediatrics    2023, 41 (8): 624-628.   DOI: 10.12372/jcp.2023.22e0486
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    Alpha-ketoadipic aciduria is a genetic metabolic disease caused by the disorder of lysine, hydroxylysine and tryptophan degradation metabolism. The clinical manifestations of the disease vary in severity and affect a wide range of systems. The main clinical manifestations include growth retardation, hypotonia, epilepsy, ataxia, microcephaly and abnormal behavior. The patient was 2 years and 8 months old and presented with convulsions and behavioral abnor malities. Urine organic acid analysis showed that α-ketoadipic acid was significantly increased. Genetic testing revealed that DHTKD1 gene had pathogenic compound heterozygous variation. Combined with the clinical and genetic characteristics of the child, the diagnosis of α-ketoadipic aciduria was confirmed. The patient's condition improved after symptomatic treatment with a low lysine and protein diet and rehabilitation. This is the first report of α-ketoadipic aciduria in Chinese medical database, which expands the genetic spectrum of α-ketoadipic aciduria and provides reference for clinical diagnosis and treatment of the disease.

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    Research progress on characterization and therapeutics for recurrent medulloblastoma in children
    ZHANG Zaiyu, WU Yuxin, LIANG Ping
    Journal of Clinical Pediatrics    2023, 41 (10): 708-714.   DOI: 10.12372/jcp.2023.22e1112
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    Medulloblastoma (MB) is a common intracranial malignancy in children with a high recurrence rate despite standardized multimodal initial treatment. The prognosis of recurrent children is very poor even after intensive treatment. In recent years, the in-depth understanding of the clinical and biological characteristics of MB recurrence can guide the clinical design of relevant treatment strategies and implement of clinical trials. This paper reviews the research progress of the above contents, hoping to promote the speed of its clinical transformation and application, and finally benefit the clinical practice.

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    Prospect of gene therapy for developmental and epileptic encephalopathy
    JI Taoyun
    Journal of Clinical Pediatrics    2023, 41 (9): 650-655.   DOI: 10.12372/jcp.2023.23e0540
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    Developmental and epileptic encephalopathy (DEE) is a group of heterogeneous disorders characterized by early-onset epilepsy, abnormal electroencephalography and developmental retardation or regression. The etiology of DEE is complex, with high disability rate and fatality rate. With the development of next-generation sequencing technology, more and more genetic causes related to DEE have been discovered, which also deepens the acknowledgement on the pathogenesis of DEE. These researches provide a basis for exploring different treatment methods, especially gene therapy. It is expected that gene therapy will be carried out in the future to improve the prognosis of DEE.

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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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    Research progress on early screening and diagnosis of Crohn's disease in children
    Reviewer: WANG Chenhui, Reviser: YANG Hui
    Journal of Clinical Pediatrics    2023, 41 (9): 708-714.   DOI: 10.12372/jcp.2023.22e0604
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    Crohn's disease (CD) is a chronic nonspecific gastrointestinal inflammatory disease. The onset of CD in children is insidious, the clinical manifestations are lack of specificity, and early diagnosis is difficult, which leads to the increased complications, surgical rates and disability rates. Early screening and diagnosis, timely intervention can improve the therapeutic effect and prognosis of children, and improve the life quality of children. This article reviews the progress of early screening and diagnosis of CD in children.

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    Clinical analysis of fulminant myocarditis in 12 children
    SUN Juan, LI Haiying, JIA Peisheng, WANG Huaili
    Journal of Clinical Pediatrics    2023, 41 (9): 692-696.   DOI: 10.12372/jcp.2023.23e0168
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    Objective To analyze the clinical characteristics of fulminant myocarditis (FM) in children, and to provide references for the clinical decision-making of pediatricians. Methods The clinical data of children with FM who were hospitalized in the pediatric intensive care unit (PICU) from October 2019 to October 2022 were retrospectively analyzed. Results Twelve children with FM (5 boys and 7 girls) were included. The median age was 10.0 (5.6-12.6) years, the median time from onset of disease to treatment was 5.0 (3.0-6.0) days, and the median length of hospital stay was 12.0 (11.0-16.8) days. Twelve patients had no specific symptoms, 11 had circulatory symptoms, and 1 had gastrointestinal symptoms only. The onset symptoms were as follows: 8 children had digestive symptoms, 5 children had neurological symptoms, 2 children had both digestive and neurological symptoms, and 1 child had respiratory symptoms. The levels of myocardial troponinⅠ(cTnⅠ), brain natriuretic peptide (BNP) and lactate dehydrogenase (LDH) were elevated in all children. The median cTnⅠ level was 5.5 (1.4-12.6) ng/L, the median BNP level was 11630.0 (6440.0-28152.0) pg/mL, and the median LDH level was 642.0 (465.5-1194.3) U/L. The myocardial troponin T (cTnT) level was elevated in 11 patients (1 child undetected), and the median cTnT level was 1.2 (0.3-3.9) ng/L. The levels of serum creatine kinase (CK) and creatine kinase isoenzyme (CK-MB) were elevated in 9 patients, the median CK level was 348.5 (99.3-674.8) U/L, and the median CK-MB level was 35.4 (24.5-97.2) U/L. The D-dimer levels were elevated in 10 patients, and the median D-dimer level was 1.7 (0.6-3.3) mg/L. Electrocardiogram and echocardiography were abnormal in all patients after admission. Three patients were treated with extracorporeal membrane oxygenation (ECMO). Ten patients (83.3%) were discharged after improvement, and 2 died. Conclusions The onset symptoms of FM in children are atypical. The positive rates of myocardial enzyme, electrocardiogram and echocardiography were high. ECMO is an effective method to treat FM.

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    Clinical and genetic analysis of Wiedemann-Steiner syndrome caused by KMT2A gene mutation in three cases
    LIU Suying, LI Fang, MA Hongwei
    Journal of Clinical Pediatrics    2023, 41 (8): 618-623.   DOI: 10.12372/jcp.2023.22e0472
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    Objective To report the clinical and genetic characteristics of three cases of Wiedemann-Steiner syndrome (WDSTS) caused by KMT2A gene mutation, and improve the understanding of the disease and the efficiency of diagnosis and treatment. Methods The clinical data of three cases of WDSTS caused by KMT2A gene mutation in three families diagnosed in Shengjing Hospital of China Medical University from December 2019 to September 2021 were reviewed, and the clinical and genetic characteristics of WDSTS patients reported in the literature were reviewed and summarized. Results All three cases were diagnosed in infancy, with the youngest age of diagnosis of two months old, and the reasons for consultation were growth retardation and anorexia, respectively. Similar to those in previous literature, the clinical manifestations were special facial features, malnutrition (3/3), feeding difficulties, sleep disorders, hirsutism (2/3), and developmental delay (1/3). The clinical manifestations that had not been reported before were umbilical hernia and inguinal hernia. All three cases were de novo frameshift variants, which occurred in exon 3 and 27 in hot spot variants region and exon 11 in non-hot spot variants region, respectively. Conclusions Wiedemann-Steiner syndrome should be considered in children with malnutrition, feeding difficulty and developmental delay, combined with special facial features and specific hirsute. High-throughput exome sequencing should be used to facilitate early diagnosis. De novo frameshift variants of KMT2A gene are common, with hot spots in exon 27 and 3. The three unreported frameshift variants in this study enrich the mutation spectrum of this gene. In addition, patients with variants in the CXXC region of the KMT2A gene may have a more severe clinical phenotype.

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    Clinical analysis of 195 children with invasive pulmonary fungal infection
    XU Beixue, LIU Quanbo
    Journal of Clinical Pediatrics    2023, 41 (8): 584-588.   DOI: 10.12372/jcp.2023.22e0925
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    Objective To analyze the clinical data of 195 children with invasive pulmonary fungal infection (IPFI), and to provide help for early identification and diagnosis of IPFI in children. Methods The clinical data of 195 children with IPFI were retrospectively analysed. Results Among the 195 cases, 123 were male and 72 were female, the median age was 9.5 (0.9-62.0) months. 52 were neonates (<28 d), 79 were infants (28 d-3 years), and 64 were elder children (3-18 years). The most common diseases of newborn were premature infants (75.0%), the most common diseases of infant were immunodeficiency (20.3%), and haematological diseases were more common in elder children (31.3%). The differences in the proportions of two-combination antibiotic use, haemodialysis or dialysis, indwelling gastric tube, use of glucocorticoids, chemotherapy or other immunosuppressive treatments, and parenteral nutrition were statistically significant between different age groups (P<0.05). The main pathogen was Candida albicans (69.2%), and there were significant differences in the proportion of Candida albicans, Candida tropicalis and Aspergillus among different age groups (P<0.05). Candida had a high resistance to azoles and a low resistance to amphotericin B and 5-fluorocytosine. Conclusions Invasive pulmonary fungal infections in children were predominant in infants and young children, with differences in the underlying disease and invasiveness factors in different age groups, with Candida being the predominant pathogen, and the distribution of strains of the organisms may be related to age, with a high rate of resistance to azoles inCandida.

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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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    Analysis of prognostic factors and survival status of group 4 medulloblastoma in children
    WU Yuefang, SUN Yanling, WU Wanshui, DU Shuxu, LI Miao, SUN Liming
    Journal of Clinical Pediatrics    2023, 41 (9): 686-691.   DOI: 10.12372/jcp.2023.22e1634
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    Objective To investigate the survival status and prognostic factors of group 4 medulloblastoma (MB) in children. Methods The clinical data of children with group 4 MB admitted to the Department of Pediatrics from May 2016 to August 2020 (follow-up until August 2022) were retrospectively analyzed. The Kaplan-Meier method was used to calculate the overall survival (OS) rate and progression-free survival (PFS) rate. Log-rank test was used to compare the difference in survival rate between groups, and Cox regression model was used to analyze the factors affecting prognosis. Results A total of 145 children (106 boys and 39 girls) with group 4 MB were included, and the median age of diagnosis was 7.5 (5.7-9.6) years old. There were 91 children in M0 stage and 54 children in M+ stage (1 in M1 stage, 12 in M2 stage and 41 in M3 stage). The pathologic types were classic in 127 cases, desmoplastic/nodular (DN) in 8 cases, anaplastic/large cell (LC/A) in 8 cases, extensive nodularity (EN) in 1 case, and none of somatotype (NOS) in 1 case. The median follow-up time was 47.9 (36.5-59.3) months, and 37 children had tumor recurrence. The 5-year OS and PFS rates were (80.8±3.4) % and (55.4±4.7) %, respectively. Cox regression analysis indicated that M+ stage, MYCN amplification and Chr12p+ variation were independent risk factors for prognosis (P<0.05). Conclusions Group 4 MB children with M+ stage or MYCN amplification have a relatively poor prognosis. Chr12p + may be related to the prognosis of children, but it needs to be confirmed by clinical studies with larger samples.

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    Myelin oligodendrocyte glycoprotein antibody-associated disease in children with prominent manifestation of optic neuritis caused by Mycoplasma pneumoniae infection: a case report
    GUO Fang, KANG Lei, DU Feifan, JIA Yanhong, XU Meixian
    Journal of Clinical Pediatrics    2023, 41 (10): 703-707.   DOI: 10.12372/jcp.2023.22e0638
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    Objective To investigate the clinical manifestations, treatment and prognosis of pediatric Mycoplasma pneumoniae (MP)-associated optic neuritis (ON). Methods The clinical data of 1 child with MP-ON were retrospectively analyzed, and the cases of MP-ON in domestic and foreign databases were retrieved and analyzed. Results The patient was a 10-year-old prepubertal girl, and her onset symptoms were fever and headache. Her serum MP antibody titer was >1:1280. After intravenous infusion of azithromycin, the child's fever and headache were quickly relieved. On day 23 of the disease course, the patient developed acute vision loss with pain of eye rotation, visual field defects, papilledema, and abnormal visual evoked potentials. There were no other manifestations of nervous system involvement and no manifestations of encephalopathy. Laboratory test found positive serum myelin oligodendrocyte glycoprotein-antibody (MOG-Ab). Cerebrospinal fluid and MRI results were abnormal. After intravenous infusion of high dose methylprednisolone combined with human immunoglobulin, the vision of the child returned to the pre-onset level, and no recurrence was observed 3 months later. Conclusions MP infection can be complicated by ON, which is related to demyelinating changes caused by autoimmunity or immune complex. Intractable headache has suggestive significance. Serum antibodies detection of central nervous system demyelinating disease is beneficial to clinical classification and guidance of treatment.

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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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    Clinical manifestations and immune mechanism of invasive pulmonary mycosis in children
    QIN Tao, XU Hongmei
    Journal of Clinical Pediatrics    2023, 41 (8): 566-570.   DOI: 10.12372/jcp.2023.23e0435
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    Invasive pulmonary mycosis is a fungal infection of the bronchi and lungs, causing inflammation of the airway mucosa and pulmonary inflammatory granulomas. In severe cases, necrotizing pneumonia may occur, and even hematogenous dissemination to other organs. Its occurrence and development depend on the interaction between external fungal pathogenic factors and the patient's immune function. Children with primary immune dysfunction, hematological malignancies, receiving hematopoietic stem cell transplantation or high-intensity immunosuppressive therapy, long-term invasive catheterization, or severe infections may be susceptible to fungi. This article discusses the immunological pathogenesis and clinical characteristics of invasive pulmonary mycosis in children, hoping to provide theoretical basis for the early detection of the disease.

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    Clinical analysis of 15 children with primary nephrotic syndrome complicated with adrenal crisis
    SUN Zhicai, LIU Yuling, LI Xiaolin, PAN Xiaofen
    Journal of Clinical Pediatrics    2023, 41 (8): 610-612.   DOI: 10.12372/jcp.2023.22e0900
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    Objective To investigate the clinical characteristics and prognosis of primary nephrotic syndrome (PNS) complicated with adrenal crisis (AC) in children. Methods Clinical data of 15 patients with primary nephrotic syndrome complicated with adrenal crisis in the department of Pediatrics, Boai Hospital, Zhongshan City from January 2010 to March 2022 were retrospectively analyzed. Results The average age of the patients was 6.25±1.81 years old (4.75-12 years old), including 9 males and 6 females. The course of disease was 2.74±1.33 years (1-6 years). Inducement: Glucocorticoid dose reduction or withdrawal in 8 cases, respiratory tract infections in 5 cases, and no obvious triggers in 2 cases. Clinical manifestations: Gastrointestinal symptoms such as abdominal pain, nausea, and vomiting were found in 11 cases, circulatory failure manifestations such as low blood pressure and oliguria in 7 cases, hyponatremia in 8 cases, hyperkalemia in 4 cases, and hypoglycaemia in 2 cases, All the children were accompanied by neurological symptoms of varying degrees (such as dizziness, debilitation, malaise or irritability, etc.). Serum cortisol: Random serum cortisol level of 9 children with digestive tract or early shock symptoms was 37.6±15.7 nmol/ L (15.3-52.7 nmol/ L), fasting serum cortisol level was 56.3±18.9 nmol/ L (21.6-73.4 nmol/L) at 8 am in 6 patients. Treatment and prognosis: Symptoms were effectively controlled in all children after 2-3 days of intravenous hydrocortisone treatment. After follow-up to June 2022, 11 cases of PNS were cured, 4 cases of PNS were still under treatment, and there was no recurrence of AC. Conclusion Primary nephrotic syndrome in children with adrenal crisis is mainly caused by hormone abatement or infection, and the symptoms of digestive and circulatory system are the main manifestations. Early identification and timely treatment have a good prognosis.

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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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    Beware of the pitfalls in diagnosis and treatment of autoimmune encephalitis in children
    ZHANG Weihua, ZOU Liping, REN Haitao, GUAN Hongzhi
    Journal of Clinical Pediatrics    2023, 41 (9): 644-649.   DOI: 10.12372/jcp.2023.23e0455
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    Over the past 15 years, the development of antibody detection technology led to the increased awareness of autoimmune encephalitis. However, the innovation has also brought about a certain proportion of misdiagnosis, and some patients have been treated improperly as a result. The main reasons for misdiagnosis include lax implementation of diagnostic criteria, incorrect interpretation of antibody test results, and insufficient differential diagnosis. Compared with adults, the symptoms of children with autoimmune encephalitis are more difficult to identify, and there are antibody spectrum and characteristics that are different from those of adults. The differential diagnosis of the disease involves a wider range, and its diagnosis and treatment face greater challenges. This article will summarize the diagnosis and treatment process of autoimmune encephalitis in children based on the current situation in China. The related pitfalls of diagnosis and treatment are interpreted and analyzed in order to help pediatricians improve accurate diagnosis and treatment of autoimmune encephalitis.

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    Clinical application of non-invasive high-frequency oscillatory ventilation in premature infants
    ZHU Xingwang, SHI Yuan
    Journal of Clinical Pediatrics    2023, 41 (10): 641-645.   DOI: 10.12372/jcp.2023.23e0789
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    Noninvasive high-frequency oscillatory ventilation(NHFOV) is based on the application of a continuous flow, generating a constant distending positive pressure with superimposed oscillations, delivered all over the spontaneous breathing cycle. NHFOV matches together the advantages of high-frequency ventilation (no need for synchronisation, high efficacy in removing CO2) and nasal continuous positive airway pressure (NCPAP, non-invasive interface, increase in functional residual capacity allowing oxygenation to improve). As it represents another “brick in the wall” of the non-invasive respiratory support, it has been increasing applied in neonatal intensive care unit (NICU). At present, there is no consensus guidelines on the application of NHFOV, the application of NHFOV is largely based on the local practices and comfort. This article summarizes the physiology of NHFOV, indications, ventilator device, interfaces, parameter settings, and clinical evidence based on a PubMed literature search.

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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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    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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    Progress and challenges in clinical research of umbilical cord blood transplantation for the treatment of premature infant diseases
    LI Fang, WANG Li
    Journal of Clinical Pediatrics    2023, 41 (10): 646-653.   DOI: 10.12372/jcp.2023.23e0634
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    Despite great progress in the treatment of neonatal diseases, complications of preterm infants such as bronchopulmonary dysplasia, perinatal brain injury and necrotizing enterocolitis are still leading causes of neonatal mortality and long term morbidity. Exploring more effective therapies for the prevention or treatment for the complications of preterm infants are the concerns in neonatology. Stem cell therapy especially umbilical cord blood transplantation, have been explored as a new therapeutic option in premature infant diseases, with very promising preclinical and clinical results over the past 20 years. This article outlined the clinical progress, prospects and challenges of stem cells derived from umbilical cord blood in preterm diseases.

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    Related factors analysis of clinical outcome after pulmonary hemorrhage in very low birth weight infants
    ZHU Wen, ZOU Yunsu, WU Yue, LU Keyu, CHENG Rui, TONG Meiling, YANG Yang
    Journal of Clinical Pediatrics    2023, 41 (10): 658-664.   DOI: 10.12372/jcp.2023.22e0562
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    Objective To explore the important prognostic factors of pulmonary hemorrhage in very low birth weight (VLBW) infants. Methods The clinical data of VLBW infants diagnosed with pulmonary hemorrhage admitted to NICU from January 1, 2018 to December 31, 2021 were retrospectively analyzed. Results A total of 64 VLBW neonates were included, 39 in the death group and 25 in the survival group. In the death group, there were 21 neonates with gestational age <28 weeks, 17 with gestational age of 28-31+6 weeks, and 1 with gestational age of 32-33+6 weeks. There were 17 neonates with birth weight <1000 g, 13 with 1000-1250 g, and 9 with 1250-1500 g. Compared with the survival group, the death group had lower birth weight and gestational age, lower age of pulmonary hemorrhage occurrence, higher rates of gestational age <28 weeks and resuscitation by tracheal intubation, and higher rates of Ⅲ-Ⅳ respiratory distress syndrome, symptomatic ductus arteriosus and early-onset sepsis, with statistical significance (P<0.05). Compared with the survival group, the death group had higher peak inspiratory pressure within 24h after birth, higher fraction of inspired oxygen before pulmonary hemorrhage, and higher fraction of inspired oxygen and peak inspiratory pressure after pulmonary hemorrhage; In the death group, the proportion of arterial blood BE<-5mmol/L after birth was higher, and the proportion of arterial blood pH<7.1, BE<-5 mmol/L, PaCO2>50 mmHg was higher when pulmonary hemorrhage occurred; Prothrombin time (PT) and thrombin time were prolonged during pulmonary hemorrhage in the death group. The differences were statistically significant (P<0.05). Binary logistic regression analysis showed that resuscitation by tracheal intubation and PT≥30 s during pulmonary hemorrhage were independent risk factors for death in children with pulmonary hemorrhage (P<0.05). Log-rank test showed that the median survival time in the resuscitation group was shorter than that in the non-resuscitation group, and the median survival time in the PT≥30 s group was shorter than that in the PT<30 s group, the difference was statistically significant (P<0.001). Conclusions In clinical work, attention should be paid to the intrauterine hypoxia of VLBW infants, the reasonable application of tracheal intubation resuscitation after birth, and the active correction of coagulation dysfunction after bleeding, so as to reduce the mortality of pulmonary hemorrhage.

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    Clinical characteristics of mitochondrial encephalomyopathy in children
    ZHUO Muqing, LI Xiaojing, PENG Bingwei, ZHU Haixia, TIAN Yang, ZHENG Kelu, GAO Yuanyuan, WU Wenxiao, WU Wenlin, CHEN Zongzong, CHEN Wenxiong, CAO Binbin
    Journal of Clinical Pediatrics    2023, 41 (9): 661-667.   DOI: 10.12372/jcp.2023.22e1600
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    Objective To explore the clinical features of mitochondrial encephalomyopathy (ME) in children in southern China. Methods The clinical data of children diagnosed with ME from January 2015 to August 2022 were retrospectively analyzed. Results Thirty-six children with ME (22 boys and 14 girls) were included, and the onset age was 6.8 (2.1-10.8) years old. The onset symptoms were stroke-like episodes (24 cases), exercise intolerance (7 cases), ptosis (3 cases) and mental retardation (2 cases). Neuromuscular symptoms during the course of the disease included seizures (17 cases), headache (11 cases), paralysis (11 cases), ataxia (10 cases), ptosis of the upper eyelid (7 cases), mental/motor retardation (7 cases), blurred vision (6 cases), disturbance of consciousness (3 cases), and psychobehavioral abnormality (2 cases). Other non-neuromuscular symptoms included fever (7 cases), vomiting (6 cases), slow weight gain (5 cases), abdominal pain (2 cases), urinary retention (1 case), intestinal obstruction (1 case), and respiratory failure after sedation (1 case). The clinical phenotypes included mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) (16 cases), Leigh syndrome (LS) (11 cases), myoclonus epilepsy with ragged-red fibers (MERRF) (3 cases), Kearns-Sayre syndrome (KSS) (2 cases), and unclassifiable types (4 cases). The blood lactic acid of resting phase was increased in 71.4% of the children, and cerebrospinal fluid lactic acid was increased in 95.2% of the children. There was statistically significant difference between blood lactic acid of resting phase and cerebrospinal fluid lactic acid (P<0.05). Abnormal brain MRI was found in 31 children, mostly involving the parietal lobe (15 cases), occipital lobe (14 cases), basal ganglia (13 cases), brainstem (10 cases) and thalamus (8 cases). Long segmental spinal cord abnormal signals were found in 2 cases of LS. Typical broken red fibers were seen by muscle biopsy in 2 children. Genetic examination found mtDNA variations in 81.8% of the children. Conclusions The onset age of ME in children is around the age of 6. Stroke like attack is the commonest onset symptom. MELAS is the commonest clinical phenotype. The levels of resting blood lactic acid and cerebral spinal fluid lactic acid may increase. Head MRI shows that ME often involves the parietal and occipital lobe, basal ganglia, brainstem and thalamus. The results of genetic examination are mainly mtDNA variations.

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    Strategies for the diagnosis, treatment, and management of invasive fungal infections in children with hematologic neoplasms
    SHEN Nan, DU Bailu
    Journal of Clinical Pediatrics    2023, 41 (8): 571-577.   DOI: 10.12372/jcp.2023.23e0416
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    Invasive fungal disease (IFD) is one of the most common types of infection in the treatment of hematologic malignancies and has a significant impact on the prognosis of pediatric patients with hematologic malignancies. In recent years, with the development of pathogen molecular detection techniques and the application of new antifungal drugs, the prognosis of IFD in pediatric patients with hematologic malignancies has been greatly improved. However, challenges such as diagnostic difficulties, complex disease conditions, and the selection of treatment drugs still exist. This article summarizes the current research progress and the latest diagnostic and therapeutic guidelines to elucidate the risk factors, clinical features, treatment strategies, and prognosis of IFD in pediatric patients with hematologic malignancies, aiming to better assist pediatricians in understanding the prevention, management, and treatment of IFD in pediatric patients with hematologic malignancies.

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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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    Predictive value of neonatal sequential organ failure assessment score for mortality risk of late-onset sepsis in very/extremely low birth weight infants
    HAO Qingfei, CHEN Jing, LIU Lijun, LI Gaopan, CHEN Haoming, ZHANG Jing, GUO Hongxiang, CHENG Xiuyong
    Journal of Clinical Pediatrics    2023, 41 (10): 670-674.   DOI: 10.12372/jcp.2023.22e1395
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    Objective To explore the predictive value of neonatal sequential organ failure assessment (nSOFA) score for the death risk of late-onset sepsis in very/extremely low birth weight infants. Methods The clinical data of very/extremely low birth weight infants diagnosed with late-onset sepsis admitted from January 2017 to December 2021 were retrospectively analyzed. The nSOFA score was calculated at 5 time points (T-24, T-12, T0, T12, T24) before and after the diagnosis of sepsis. Receiver operating characteristic (ROC) curve was used to analyze the predictive value of nSOFA score for mortality risk of children. Results A total of 135 children (66 boys and 69 girls) were included, and the age at diagnosis of sepsis was 21.0 (13.5-25.0) days. One hundred and thirteen children survived and 22 died (case fatality rate 16.3%). There were statistically significant differences in nSOFA scores between survival group and death group at T-12, T0, T12 and T24 time points (P<0.05). ROC curve analysis showed that the sensitivity of nSOFA score at T-12, T0, T12 and T24 to predict the death risk of late-onset sepsis in very/extremely low birth weight infants was 59.1%, 81.8%, 93.2% and 98.3%, and the specificity was 63.6%, 71.7%, 73.7% and 89.9%, respectively. The areas under the curve were 0.64, 0.79, 0.89 and 0.95, respectively. The sensitivity, specificity and area under the curve of nSOFA score were the largest at T24. Conclusions The nSOFA score has a predictive value for the risk of death from late-onset sepsis in very/extremely low birth weight infants. The higher the nSOFA score, the greater the risk of death from sepsis.

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    Clinical analysis of idiopathic and symptomatic occipital lobe epilepsy in children
    YANG Yating, CAI Yuehao, FANG Qiong, CHEN Lang, CHEN Qiaobin, LIN Zhi, WU Feifei, LIN Meng
    Journal of Clinical Pediatrics    2023, 41 (9): 668-673.   DOI: 10.12372/jcp.2023.22e1059
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    Objective To investigate the clinical characteristics and treatment of idiopathic and symptomatic occipital lobe epilepsy in children. Methods The clinical data of children with occipital lobe epilepsy diagnosed from April 2013 to April 2022 were retrospectively analyzed. The patients were divided into idiopathic group (including early-onset group and late-onset group) and symptomatic group. The clinical characteristics, auxiliary examination results and treatment were compared between the groups. Results A total of 80 children (28 girls and 52 boys) with occipital lobe epilepsy were included. The median age of onset was 7.0 (5.0-7.0) years old and the median course of disease was 1.7 (1.0-2.5) years. There were 38 children in the early-onset group, 24 in the late-onset group and 18 in the symptomatic group. The age of onset, the proportion of head eye deflection, autonomic nervous symptoms, visual hallucinations, eye clonus, eyelid flutter and falls, and the proportion of abnormal vision and nervous system positive signs during physical examination existed significant differences among the three groups (P<0.05). The proportion of intelligence test score below normal and head MRI abnormalities, and the incidence of abnormal background, bilateral occipital discharge and eye closure sensitivity in the interictal electroencephalogram (EEG) were significantly different among three groups (P<0.05). There were statistically significant differences in the proportion of antiepileptic therapy, monotherapy and the utilization rate of sodium valproate, levetiracetam and topiramate among the three groups (P<0.05). Conclusions The clinical characteristics of idiopathic and symptomatic occipital lobe epilepsy in children are different. The corresponding treatment plan need to be formulated based on the comprehensive evaluation of clinical seizure forms, head imagings and EEG characteristics.

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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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    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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    Research progress on the role of intestinal flora in sepsis
    WANG Yanfei, TAN Linhua
    Journal of Clinical Pediatrics    2023, 41 (8): 634-640.   DOI: 10.12372/jcp.2023.22e0820
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    Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection which affects children's health. The intestinal flora play an important regulatory role in host metabolism and immunity and are associated with a variety of diseases. Studies have shown that sepsis and clinical treatments can lead to intestinal flora imbalance in children, which further affects the prognosis of the disease; while healthy intestinal flora can reduce the susceptibility of children to sepsis and improve the survival of sepsis, and ameliorate the damage to the function of organs. This article reviews the related research on intestinal flora and sepsis, in order to contribute to the prevention and treatment of sepsis in children.

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    Research advances of the bronchiolitis obliterans syndrome following allogeneic hematopoietic stem cell transplant in children
    XI Bixin, HU Qun, LIU Aiguo
    Journal of Clinical Pediatrics    2023, 41 (8): 629-633.   DOI: 10.12372/jcp.2023.22e1137
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    Bronchiolitis obliterans syndrome (BOS) is one of the rare and fatal non-infectious pulmonary complications after allogeneic haematopoietic stem cell transplantation (HSCT) in children. Mutiple risk factors such as primary graft dysfunction, graft-versus-host disease (GVHD), lymphocytic bronchiolitis, gastro-oesophageal reflux, and air pollution, particularly in children, have been reported to be the most common contributions to the bronchiolitis obliterans syndromepost-HSCT. An early diagnosis and treatment of BOS following HSCT is challenging due to the lack of obvious early symptoms, high risk of open lung biopsy, irreversible pathophysiological changes, and the failure of steroid treatment in some children. In this review, we summarize research advances in the epidemiology, pathogenesis, diagnosis, and treatment of this lethal noninfectious pulmonary complication, and provide suggestions for further improvement of diagnostic and therapeutic norms applicable to post-HSCT BOS in children.

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    Clinical analysis of autoimmune glial fibrillary acidic protein astrocytopathy in children
    HOU Chi, CHEN Wenxiong, LIAO Yinting, WU Wenxiao, TIAN Yang, ZHU Haixia, PENG Bingwei, ZENG Yiru, WU Wenlin, CHEN Zongzong, LI Xiaojing
    Journal of Clinical Pediatrics    2023, 41 (9): 656-660.   DOI: 10.12372/jcp.2023.22e1735
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    Objective To investigate the clinical characteristics, treatment and prognosis of autoimmune glial fibrillary acidic protein astrocytopathy (GFAP-A) in children. Methods The clinical data of children diagnosed with GFAP-A from June 2018 to July 2022 were retrospectively analyzed. Results Five patients were diagnosed with GFAP-A, including 3 boys and 2 girls, and the onset age was 11.0 (5.0-13.5) years. The commonest initial symptom was fever (4 cases), and the commonest neurological symptoms and signs were headache (5 cases) and neck rigidity with positive Kerning sign (5 cases). Cerebrospinal fluid examination (CSF) in acute stage showed elevated white blood cell count and protein level in 4 cases and protein-cell separation in 1 case. The median CSF GFAP antibody titer was 1:10 (1:10-1:100), and 1 patient had combined N-methyl-D-aspartate receptor (NMDAR) antibody. The commonest magnetic resonance imaging (MRI) findings were cerebral leptomeningeal enhancement (4 cases). In acute phase, all children received first-line immunotherapy (high-dose intravenous methylprednisolone combined with intravenous immunoglobulin), and 4 children had a good response. One patient with positive CSF NMDAR antibody had no response to first-line treatment, but improved after rituximab treatment. During a follow-up of 8.0 (4.0-36.0) months, no neurological sequelae associated with the disease were detected. Conclusions The commonest symptoms and signs of GFAP-A in children are fever, headache and meningeal irritation, and leptomeningeal enhancement is the commonest MRI change. Most children have a good response to first-line immunotherapy and have a good prognosis during follow-up.

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    Diagnosis and treatment characteristics and long-term follow-up of 51 cases of infantile neuroblastoma
    XU Quan, YUAN Xiaojun
    Journal of Clinical Pediatrics    2023, 41 (9): 680-685.   DOI: 10.12372/jcp.2023.22e1756
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    Objective The clinical characteristics, diagnosis and treatment characteristics and long-term curative effect of the children with neuroblastoma (NB) at the age of less than 12 months were analyzed to provide evidence-based basis for further optimizing the treatment of infantile NB patients. Methods The clinical data of infantile NB patients admitted from January 2008 to December 2018 were retrospectively analyzed, and the clinical characteristics and prognostic factors of the children were summarized. Results The median age of diagnosis in 51 NB infants (34 boys and 17 girls) was 7.5 (3.8-10.1) months, and abdominal mass (27 cases, 52.9%) was the commonest reason for medical treatment. The most frequently-occurring sites of tumors were adrenal gland (21 cases, 41.4%) and retroperitoneum (19 cases, 37.2%). Bone marrow, liver and bone were the commonest sites of metastasis. The amplification frequency of MYCN gene was 11.3% (5/44). Forty-nine NB patients underwent surgery, of whom 8 were treated with surgical resection alone, 13 were treated with surgery after chemotherapy, and 28 were treated with surgery before chemotherapy. Of the remaining patients, 1 received chemotherapy alone and 1 did not receive any treatment except follow-up. The median follow-up time was 78.5 (72.1-124.0) months. A total of 49 patients survived without an event. Two patients died. The 6-year overall survival rate and the 6-year event-free survival rate were both (96.1±2.7)%. Univariate analysis revealed that tumor staging, distant metastasis, bone marrow metastasis, bone involvement, risk grouping, MYCN amplification, serum neuron-specific enolase and lactate dehydrogenase levels at initial diagnosis were factors affecting prognosis (P<0.05). Conclusions Infantile NB patients have a good long-term prognosis. It should be expected to further reduce the intensity of chemotherapy for patients without MYCN amplification.

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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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    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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    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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    Role of nontypeable Haemophilus influenzae biofilms in chronic pulmonary infection in children
    CHEN Hongyu, LIU Zihao, WANG Heping, LIAO Cuijuan, LI Li, WANG Wenjian, LAI Jianwei
    Journal of Clinical Pediatrics    2023, 41 (8): 589-593.   DOI: 10.12372/jcp.2023.22e0427
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    Objective To investigate the role of nontypeable Haemophilus influenzae biofilm in children with chronic pulmonary infection and compare the biofilm formation of isolates from acute and chronic pulmonary infection in children. Methods Haemophilus influenzae isolated from bronchoalveolar lavage fluid of acute and chronic pulmonary infection in children was selected from the clinical microbiology lab in Shenzhen Children's Hospital, and Haemophilus influenzae isolated from the nasopharynx of healthy children was selected as the control group. And then we compared the production of biofilms at different time points and between different groups in children with acute or chronic pulmonary infection. Results All strains were nontypeable Haemophilus influenzae detected by PCR of capsular gene bexA. The difference in absorbance between acute and chronic lung infection groups at different time points (days 1, 2, 3, 4, and 7) was statistically significant, and the absorbance was the highest in the chronic infection group on day 4. On the 4th day, the difference in absorbance between the healthy control group and the acute and chronic lung infection groups was statistically significant (P<0.05). The absorbance of the chronic lung infection group was higher than that of the healthy control group and the acute lung infection group (P<0.05). Conclusion The biofilm formation of nontypeable Haemophilus influenzae takes a long time, and the formation ability in children with chronic pulmonary infection is significantly higher than that in children with acute pulmonary infection and healthy control children.

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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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    Etiologies of death and preventive strategies in extremely preterm infants
    ZHOU Jianguo
    Journal of Clinical Pediatrics    2023, 41 (10): 654-657.   DOI: 10.12372/jcp.2023.23e0715
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    With the development of perinatal and neonatal medicine in China, as well as the improvement of the overall willingness to treat extremely preterm infants (gestational age <28 weeks, EPI), the number of them has increased. As a result, EPI has become the leading cause of neonatal death in neonatal intensive care units (NICUs). According to the experience of foreign developed countries, with the improvement of China's social and economic development level, the proportion of EPI in NICU deaths will be further increased. Therefore, the EPI care is and will remain an important and challenging issue in the future. Reducing the mortality risk of EPI depends on the establishment and improvement of perinatal medical centers, neonatal medical centers and professional neonatal transport systems, the implementation of comprehensive management programs for preterm infants, the integration of prenatal, intrapartum and postnatal factors, and comprehensive obstetric and neonatal cooperation.

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    Phase Ⅲ clinical trial of recombinant human growth hormone for injection in treatment of idiopathic short stature
    LIANG Huan, SHENG Hai, WEI Haiyan, YANG Yu, DU Hongwei, LIU Fang, YANG Li, WANG Meina, WANG Li, MA Qin, ZHANG Huiwen, GU Xuefan
    Journal of Clinical Pediatrics    2023, 41 (10): 685-691.   DOI: 10.12372/jcp.2023.22e1018
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    Objective To evaluate the efficacy and safety of recombinant human growth hormone (rhGH) for injection in the treatment of prepubertal children with idiopathic short stature (ISS) in China. Methods This study was a randomized, open-label, controlled, multicenter, phase Ⅲ clinical trial of prepubertal ISS from December 27, 2016 to July 30, 2020. Participants were randomly assigned to the high-dose group, low-dose group and control group in a ratio of 3:3:1, and the administration cycle of rhGH was 52 weeks. Changes in height standard deviation scores (ΔHT-SDS) of actual age before and after treatment, annual height velocity (HV) and bone maturity at the end of treatment were observed. At the same time, the rhGH safety during treatment was investigated. Results A total of 150 participants completed the trial. At baseline, there were no significant differences in age, bone age, sex, height, weight, body mass index, HT-SDS, annual HV and insulin-like growth factor 1 levels among all groups (P>0.05). Both full analysis set (FAS) and per protocol set (PPS) analysis found statistically significant differences in ΔHT SDS among the high-dose, low-dose and control groups at week 26, 39 and 52 (P<0.001). Pairwise comparison showed that ΔHT SDS in the high-dose and low-dose groups were higher than those in the control group, and the differences were statistically significant (P<0.05). FAS analysis showed statistically significant differences in HV among the high-dose, low-dose and control groups at week 13, 26, 39, and 52 (P<0.001). Pairwise comparison showed that HV in the high-dose and low-dose groups was higher than that in the control group, and the differences were statistically significant (P<0.05). At week 52, there was no significant difference in bone maturity among all groups (P>0.05). During the study, no serious adverse reaction occurred in each group. Conclusions The rhGH injection is effective in treating ISS, and there is a significant growth in stature after 52 weeks of treatment, but more observation and evaluation of the effect and safety of lifetime height are needed.

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    Journal of Clinical Pediatrics    2023, 41 (9): 703-707.   DOI: 10.12372/jcp.2023.22e1763
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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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    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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    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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