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  • CLINICAL RESEARCH
    HUANG Jie, DING Ya-Ling, GAO Liang, ZHU Yao, LIN Ya-Yin, LIN Xin-Zhu
    Objective To investigate the efficacy of therapeutic hypothermia on mild neonatal hypoxic-ischemic encephalopathy (HIE). Methods A prospective study was performed on 153 neonates with mild HIE who were born from September 2019 to September 2023. These neonates were randomly divided into two groups: therapeutic hypothermia (n=77) and non-therapeutic hypothermia group (n=76). The short-term clinical efficacy of the two groups were compared. Barkovich scoring system was used to analyze the severity of brain injury shown on magnetic resonance imaging (MRI) between the two groups. Results There were no significant differences in gestational age, gender, birth weight, mode of birth, and Apgar score between the therapeutic hypothermia and non-therapeutic hypothermia groups (P>0.05). There were no significant differences in the incidence rates of sepsis, arrhythmia, persistent pulmonary hypertension and pulmonary hemorrhage and the duration of mechanical ventilation within the first 72 hours after birth between the two groups. The therapeutic hypothermia group had longer prothrombin time within the first 72 hours after birth and a longer hospital stay (P<0.05). Compared with the non-therapeutic hypothermia group, the therapeutic hypothermia group had lower incidence rates of MRI abnormalities (30% vs 57%), moderate to severe brain injury on MRI (5% vs 28%), and watershed injury (27% vs 51%) (P<0.05), as well as lower medium watershed injury score (0 vs 1) (P<0.05). Conclusions Therapeutic hypothermia can reduce the incidence rates of MRI abnormalities and watershed injury, without obvious adverse effects, in neonates with mild HIE, suggesting that therapeutic hypothermia may be beneficial in neuroprotection in these neonates.
  • STANDARD·PROTOCOL·GUIDELINE
    Neonatal Clinical Practice Guidelines Expert Committee of the Cross-Strait Medical and Health Exchange Association; Neonatal Evidence-Based Medicine Group of the Commission of Neonatal Medicine of the Cross-Strait Medical and Health Exchange Association; Editorial Office of the C
    Anemia of prematurity (AOP) is a multifactorial condition associated with congenital iron deficiency, low erythropoietin levels, a short lifespan of red blood cells, and iatrogenic blood loss. AOP is a common complication in premature infants that can adversely affect growth, development, and long-term neurocognitive outcomes. To standardize the diagnosis and treatment of AOP, the Neonatal Clinical Practice Guidelines Expert Committee and the Neonatal Evidence-Based Medicine Group of the Commission of Neonatal Medicine of the Cross-Strait Medical and Health Exchange Association, along with the Editorial Office of the Chinese Journal of Contemporary Pediatrics, have developed the "Clinical practice guidelines for the diagnosis and treatment of anemia of prematurity (2025)", based on the World Health Organization's handbook for guideline development and the formulation/revision principles of Chinese clinical practice guidelines. This guideline addresses eight clinical issues related to AOP, including risk factors, early identification, etiological diagnosis, diagnostic criteria, early prevention, transfusion therapy, strategies to improve prognosis, and post-discharge follow-up. It presents 29 recommendations formed from current evidence and expert consensus, aiming to provide guidance and decision-making support for healthcare professionals in the diagnosis and treatment of AOP.
  • STANDARD·PROTOCOL·GUIDELINE
    Neonatal Health Care Committee of Chinese Maternal and Child Health Association
    CSCD(1)
    Neonates, particularly preterm infants, are a susceptible population to respiratory viral infections. Currently, aside from influenza, there are no antiviral medications specifically approved for the treatment of respiratory viral infections in neonates; therefore, prevention of these viral infections is particularly crucial for neonates. The Neonatal Health Care Committee of Chinese Maternal and Child Health Association, based on domestic and international clinical evidence and combined with clinical practice experience, and after thorough discussion by relevant experts, has developed eight expert recommendations. These include preventive strategies against influenza virus, respiratory syncytial virus, and severe acute respiratory syndrome coronavirus 2 infections, intended for reference in clinical practice.
  • GUIDELINE INTERPRETATION
    ZHANG Xin-Yin, LIU Li-Ting, BAO Lei, SHI Yuan
    CJCP. 2024, 26(11): 1127-1134. https://doi.org/10.7499/j.issn.1008-8830.2408079
    The clinical manifestations of cow's milk protein allergy (CMPA) in neonates are non-specific and involve multiple organ systems. CMPA may also adversely affect physical growth and central nervous system development in neonates, lead to functional disorders, and increase anxiety and stress among family members. Due to the lack of specific clinical manifestations and diagnostic methods, the diagnosis and management of CMPA in neonates continue to pose significant clinical challenges. To facilitate standardized diagnosis and treatment of CMPA in neonates, the Neonatology Group of the Pediatric Branch of the Chinese Medical Association and the Editorial Committee of the Chinese Journal of Pediatrics have jointly developed the "Expert Consensus on Diagnosis and Management of Neonatal Cow's Milk Protein Allergy (2023)". This article presents and interprets the key points of the consensus regarding dietary and nutritional management of CMPA in neonates.
  • REVIEW
    DU Yue, WANG Ya-Juan
    In recent years, the number of premature births worldwide has been increasing, and their long-term prognoses, particularly the cardiovascular outcomes of preterm individuals in adulthood, have become a growing concern. Adults who were born prematurely are at a higher risk for cardiovascular diseases, which may be related to changes in cardiovascular structure, renal structure alterations, changes in body composition, and overactivation of the hypothalamic-pituitary-adrenal axis. To improve the outcomes for preterm individuals, long-term follow-up monitoring and effective prevention and treatment measures are necessary. This article aims to review the relevant literature, summarize the risks and mechanisms of hypertension during childhood and adulthood in those born prematurely, and enhance awareness and understanding of the risk of hypertension in adults who were born prematurely.
  • REVIEW
    GAO Jing, SHU Jian-Bo, LIU Yang
    Neonatal sepsis is a common and severe infectious disease with a high mortality rate. Its pathogenesis is complex, lacks specific manifestations, and has a low positive culture rate, making early diagnosis and personalized treatment still a challenge for clinicians. Epidemiological studies on twins have shown that genetic factors are associated with neonatal sepsis. Gene polymorphisms are closely related to susceptibility, disease development, and prognosis. This article provides a review of gene polymorphisms related to neonatal sepsis, including interleukins, tumor necrosis factor, Toll-like receptors, NOD-like receptors, CD14, triggering receptor expressed on myeloid cells-1, mannose-binding lectin, and other immune proteins, aiming to promote precision medicine for this disease.
  • CLINICAL RESEARCH
    ZHAO Xiao-Fen, CHENG Guo-Qiang, ZHAO Peng-Na, ZHAO Mei, ZHU Shuang-Yan, LI Yang-Fang, ZHOU Wen-Hao
    Objective To investigate the amplitude-integrated electroencephalography (aEEG) monitoring results of hospitalized neonates in plateau areas. Methods A retrospective analysis was conducted on 5 945 neonates who were admitted to the Department of Neonatology, Kunming Children's Hospital, and received aEEG monitoring from January 2020 to December 2022. According to the aEEG monitoring results, they were divided into a normal aEEG group and an abnormal aEEG group. The incidence rate of aEEG abnormalities was analyzed in neonates with various systemic diseases, as well as the manifestations of aEEG abnormalities and the consistency between aEEG abnormalities and clinical abnormalities. Results Among the 5 945 neonates, the aEEG abnormality rate was 19.28% (1 146/5 945), with an abnormality rate of 29.58% (906/3 063) in critically ill neonates and 8.33% (240/2 882) in non-critically ill neonates (P<0.05). The children with inherited metabolic diseases showed the highest aEEG abnormality rate of 60.77% (79/130), followed by those with central nervous system disorders [42.22% (76/180)] and preterm infants [35.53% (108/304)]. Compared with the normal aEEG group, the abnormal aEEG group had significantly lower age and gestational age, as well as a significantly lower birth weight of preterm infants (P<0.05). Among the 1 146 neonates with aEEG abnormalities, the main types of aEEG abnormalities were sleep cycle disorders in 597 neonates (52.09%), background activity abnormalities in 294 neonates (25.65%), and epileptiform activity in 255 neonates (22.25%), and there were 902 neonates (78.71%) with abnormal clinical manifestations. The sensitivity and specificity of aEEG monitoring for brain function abnormalities were 33.51% and 92.50%, respectively. Conclusions In plateau areas, there is a relatively high rate of aEEG abnormalities among hospitalized neonates, particularly in critically ill neonates and those with smaller gestational ages and younger ages, suggesting a high risk of brain injury. Therefore, routine aEEG monitoring for the hospitalized neonates can help with the early detection of brain function abnormalities, the decision-making in treatment, and the formulation of brain protection strategies.
  • GUIDELINE INTERPRETATION
    ZHANG Xin-Yu, HE Yang, TANG Jun, YU Jia-Jie, YING Jun-Jie, MU De-Zhi

    The "Guidelines for parenteral nutrition in preterm infants: the American Society for parenteral and enteral nutrition" were developed by the American Society for Parenteral and Enteral Nutrition and published in the Journal of Parenteral and Enteral Nutrition in September 2023. The guidelines provide recommendations on 12 key clinical questions regarding parenteral nutrition (PN) for preterm infants. In comparison to similar guidelines, this set offers more detailed perspectives on PN for preterm infants. It presents evidence-based recommendations for the commencement time, nutrient dosage, and composition of PN, considering primary outcomes such as growth and development, as well as secondary outcomes like sepsis, retinopathy of prematurity, parenteral nutrition-related liver disease, and jaundice. This article aims to interpret the guidelines to provide a reference for colleagues in the field.

  • GUIDELINE INTERPRETATION: GUIDELINE FOR PEDIATRIC TRANSFUSION
    ZHAO Ming-Yi, HUANG Rong, GUI Rong, HE Qing-Nan, HEI Ming-Yan, ZHU Xiao-Fan, LU Jun, XU Xiao-Jun, YUAN Tian-Ming, ZHANG Rong, WANG Xu, LIU Jin-Ping, WANG Jing, SHAO Zhi-Li, GUO Yong-Jian, WU Xin-Yin, CHEN Jia-Rui, CHEN Qi-Rong, GUO Jia, YANG Ming-Hua
    To guide clinical blood transfusion practices for pediatric patients, the National Health Commission has issued the health standard "Guideline for pediatric transfusion" (WS/T 795-2022). Blood transfusion is one of the most commonly used supportive treatments for children with hematological diseases. This guideline provides guidance and recommendations for blood transfusions in children with aplastic anemia, thalassemia, autoimmune hemolytic anemia, glucose-6-phosphate dehydrogenase deficiency, acute leukemia, myelodysplastic syndromes, immune thrombocytopenic purpura, and thrombotic thrombocytopenic purpura. This article presents the evidence and interpretation of the blood transfusion provisions for children with hematological diseases in the "Guideline for pediatric transfusion", aiming to assist in the understanding and implementing the blood transfusion section of this guideline.
  • CLINICAL RESEARCH
    WANG Yan-Qiong, ZENG Ya-Li, CHEN Xue-Yu, HUANG Zhi-Feng, YANG Chuan-Zhong
    Objective To investigate the clinical characteristics of Ureaplasma urealyticum (UU) infection and colonization in extremely preterm infants and its impact on the incidence of bronchopulmonary dysplasia (BPD). Methods A retrospective analysis was conducted on 258 extremely preterm infants who were admitted to the Department of Neonatology, Shenzhen Maternity and Child Healthcare Hospital, from September 2018 to September 2022. According to the results of UU nucleic acid testing and the evaluation criteria for UU infection and colonization, the subjects were divided into three groups: UU-negative group (155 infants), UU infection group (70 infants), and UU colonization group (33 infants). The three groups were compared in terms of general information and primary and secondary clinical outcomes. Results Compared with the UU-negative group, the UU infection group had significant increases in the incidence rate of BPD, total oxygen supply time, and the length of hospital stay (P<0.05), while there were no significant differences in the incidence rates of BPD and moderate/severe BPD between the UU colonization group and the UU-negative group (P>0.05). Conclusions The impact of UU on the incidence of BPD in extremely preterm infants is associated with the pathogenic state of UU (i.e., infection or colonization), and there are significant increases in the incidence rate of BPD, total oxygen supply time, and the length of hospital stay in extremely preterm infants with UU infection. UU colonization is not associated with the incidence of BPD and moderate/severe BPD in extremely preterm infants.
  • SERIES REVIEW—DIAGNOSIS AND TREATMENT OF GROWTH DISORDERS
    ZHOU Jian-Hua
    Growth disorders are one of the common complications of chronic kidney disease (CKD) in children, adversely affecting both the quality of life and survival time of CKD patients. Recombinant human growth hormone (rhGH) is an effective treatment for growth disorders in children with CKD. This article reviews the mechanisms underlying growth disorders in children with CKD, the therapeutic effects, safety, and precautions of rhGH, and long-term management of diagnosis and treatment of this disorder.
  • CLINICAL RESEARCH
    HU Yang, ZHUANG Yan, WU Yun-Qin, XIAO Zheng-Hui
    CJCP. 2024, 26(11): 1155-1161. https://doi.org/10.7499/j.issn.1008-8830.2407018
    Objective To investigate the efficacy and safety of exchange transfusion in neonates with severe pertussis. Methods A retrospective analysis was performed for the medical data of five neonates with severe pertussis who underwent exchange transfusion in the Department of Neonatology, Hunan Children's Hospital, from August 2019 to March 2024. The clinical characteristics of the patients were summarized, and the efficacy and adverse reactions of exchange transfusion were analyzed. Results All five neonates had the symptoms of hypoxemia, recurrent apnea, and heart failure and required invasive mechanical ventilation. Two cases of pulmonary hypertension were observed, one of which was complicated by decompensated shock. Before exchange transfusion, the five children had a median leukocyte count of 82.60×109/L, a median absolute lymphocyte count of 28.20×109/L, and a median absolute neutrophil count of 43.10×109/L, and reexamination at 4 hours after exchange transfusion showed that these values decreased to 28.40×109/L, 7.60×109/L, and 15.40×109/L, respectively. The four children who underwent exchange transfusion in the early stage of cardiopulmonary failure showed varying degrees of improvement in oxygenation and a reduction in the partial pressure of carbon dioxide, and they were discharged after improvement; the one child who underwent exchange transfusion in the late stage of cardiopulmonary failure ultimately died. No child experienced severe adverse reactions related to exchange transfusion. Conclusions For neonates with severe pertussis, initiating exchange transfusion in the early stages of cardiopulmonary failure can effectively reduce leukocyte levels, potentially improve survival rates, and is relatively safe.
  • STANDARD·PROTOCOL·GUIDELINE
    Nutritional Committee of Neonatology Branch of Chinese Medical Doctor Association; Preterm Committee of Neonatology Branch of Chinese Medical Doctor Association; Editorial Committee of Chinese Journal of Contemporary Pediatrics
    Parenteral nutrition (PN) is widely utilized in the field of neonatology and is a critical life-saving intervention for critically ill neonates or preterm infants who cannot meet their energy and nutrient needs through enteral feeding. To further standardize and optimize the clinical management of PN, this consensus was developed by a working group based on relevant research progress both domestically and internationally. Employing the Grading of Recommendations Assessment, Development and Evaluation, the consensus presents 24 recommendations covering seven aspects of PN: indications, administration routes, energy, fluid volume, composition of nutritional solutions, timing of cessation, and monitoring. The aim is to provide guidance for relevant practitioners in PN management to improve the short-term and long-term outcomes for neonates.
  • CLINICAL RESEARCH
    GAO Jie, CHEN Chao-Ying, TU Juan, GENG Hai-Yun, LI Hua-Rong, SUN Jin-Shan, WANG Nan-Nan, HUANG Yong-Li
    Objective To investigate the incidence and risk factors for acute kidney injury (AKI) in children with primary nephrotic syndrome (PNS), as well as the role of neutrophil gelatinase-associated lipocalin (NGAL) and kidney injury molecule-1 (KIM-1) in the early identification of AKI in these children. Methods A prospective collection of clinical data from children hospitalized with PNS at the Children's Hospital of the Capital Institute of Pediatrics from January 2021 to October 2022 was conducted. The children were divided into two groups based on the presence of AKI: the AKI group (47 cases) and the non-AKI group (169 cases). The risk factors for AKI in children with PNS were identified by multivariate logistic regression analysis. Urinary KIM-1 and NGAL levels were compared between the AKI and non-AKI groups, as well as among the different stages of AKI. Results The incidence of AKI in children with PNS was 21.8%. Multivariate logistic regression analysis revealed that steroid-resistant nephrotic syndrome, gastrointestinal infections, and heavy proteinuria were independent risk factors for AKI in these children with PNS (P<0.05). Urinary KIM-1 and NGAL levels were higher in the AKI group compared to the non-AKI group (P<0.05), and the urinary NGAL and KIM-1 levels in the AKI stage 2 and stage 3 subgroups were higher than those in the AKI stage 1 subgroup (P<0.017). Conclusions KIM-1 and NGAL can serve as biomarkers for the early diagnosis of AKI in children with PNS. Identifying high-risk populations for AKI in children with PNS and strengthening the monitoring of related risk factors is of significant importance.
  • SERIES REVIEW—DIAGNOSIS AND TREATMENT OF GROWTH DISORDERS
    GU Wei, ZHAO Xue
    CJCP. 2024, 26(11): 1135-1140. https://doi.org/10.7499/j.issn.1008-8830.2407176
    There is a delay in the clinical diagnosis of Turner syndrome (TS), particularly for patients with mosaic karyotypes. This diagnostic delay can hinder age-appropriate treatments and lead to adverse health outcomes. Therefore, it is necessary to explore improvement measures for early diagnosis and treatment plans based on the current clinical situation. Furthermore, as research progresses, the focus of clinical diagnosis and treatment of TS is gradually expanding to multiple aspects, including cardiovascular health, fertility, and transitional care, in order to improve the prognosis and quality of life of the patients. This paper discusses the current clinical status and management key points of TS diagnosis and treatment, aiming to provide insights for improving the management of TS.
  • STANDARD·PROTOCOL·GUIDELINE
    Hunan Neonatal Medical Quality Control Center; Neonatology Group of Perinatal Medical Committee of Hunan Medical Association
    CJCP. 2024, 26(10): 1009-1018. https://doi.org/10.7499/j.issn.1008-8830.2408024
    Late-onset sepsis (LOS) is commonly seen in neonates who are hospitalized for extended periods, particularly in very low birth weight infants (VLBWI) and extremely low birth weight infants (ELBWI). Currently, the management of LOS in preterm infants faces dual challenges of delayed diagnosis and treatment, as well as antibiotic overtreatment. To address these issues, the Hunan Neonatal Medical Quality Control Center and the Neonatology Group of Perinatal Medical Committee of Hunan Medical Association organized a group of neonatal experts from Hunan Province to formulate recommendations based on published literature and statistical data from the Hunan Neonatal Medical Quality Control Center, as well as real-world practices in most neonatal intensive care units in Hunan Province. The group of neonatal experts proposed 15 recommendations for the diagnosis and antibiotic treatment of LOS in hospitalized preterm infants in the neonatal intensive care unit.
  • CLINICAL RESEARCH
    LIU Tie-Hu, LIU Xiao-Xue, TANG Yang, QI Fei, LIU Deng-Pin
    Objective To explore the establishment of a risk prediction model for concurrent bronchiolitis obliterans (BO) in children with refractory Mycoplasma pneumoniae pneumonia (RMPP). Methods A retrospective study included 116 RMPP children treated in the Department of Pediatrics of Xiangya Changde Hospital from June 2021 to December 2023. Eighty-one cases were allocated to the training set and thirty-five cases to the validation set based on a 7:3 ratio. Among them, 26 cases in the training set developed BO, while 55 did not. The multivariate logistic regression was used to select variable factors for constructing the BO risk prediction model. Nomograms were drawn, and the receiver operating characteristic (ROC) curve was used to assess the discriminative ability of the model, while calibration curves and Hosmer-Lemeshow tests evaluated the model's calibration. Results Multivariate logistic regression analysis indicated that several factors were significantly associated with concurrent BO in RMPP children, including length of hospital stay, duration of fever, atelectasis, neutrophil percentage (NEUT%), peak lactate dehydrogenase (LDH), ferritin, peak C reactive protein (CRP), oxygenation index (PaO2/FiO2), ≥2/3 lung lobe consolidation, pleural effusion, bronchial mucous plugs, bronchial mucosal necrosis, and arterial oxygen partial pressure (PaO2) (P<0.05). ROC curve analysis for the training set indicated an area under the curve of 0.904 with 88% sensitivity and 83% specificity; the validation set showed an area under the curve of 0.823 with 76% sensitivity and 93% specificity. The Hosmer-Lemeshow test's Chi-square values for the training and validation sets were 2.17 and 1.92, respectively, with P values of 0.221 and 0.196, respectively. Conclusions The risk prediction model for BO in RMPP children based on logistic regression has good performance. Variables such as length of hospital stay, duration of fever, atelectasis, peak LDH, peak CRP, NEUT%, ferritin, ≥2/3 lung lobe consolidation, pleural effusion, bronchial mucous plugs, bronchial mucosal necrosis, PaO2/FiO2, and PaO2 can be used as predictors.
  • CLINICAL RESEARCH
    RUAN Xiao-Rui, SUN Meng-Ting, WEI Jian-Hui, LUO Man-Jun, LIU Han-Jun, TANG Jia-Peng, LI Liu-Xuan, QIN Jia-Bi
    Objective To investigate how maternal MTR gene polymorphisms and their interactions with periconceptional folic acid supplementation are associated with the incidence of ventricular septal defects (VSD) in offspring. Methods A case-control study was conducted, recruiting 426 mothers of infants with VSD under one year old and 740 mothers of age-matched healthy infants. A questionnaire survey collected data on maternal exposures, and blood samples were analyzed for genetic polymorphisms. Multivariable logistic regression analysis and inverse probability of treatment weighting were used to analyze the associations between genetic loci and VSD. Crossover analysis and logistic regression were utilized to examine the additive and multiplicative interactions between the loci and folic acid intake. Results The CT and TT genotypes of the maternal MTR gene at rs6668344 increased the susceptibility of offspring to VSD (P<0.05). The GC and CC genotypes at rs3768139, AG and GG at rs1050993, AT and TT at rs4659743, GG at rs3768142, and GT and TT at rs3820571 were associated with a decreased risk of VSD (P<0.05). The variations at rs6668344 demonstrated an antagonistic multiplicative interaction with folic acid supplementation in relation to VSD (P<0.05). Conclusions Maternal MTR gene polymorphisms significantly correlate with the incidence of VSD in offspring. Mothers with variations at rs6668344 can decrease the susceptibility to VSD in their offspring by supplementing with folic acid during the periconceptional period, suggesting the importance of periconceptional folic acid supplementation in genetically at-risk populations to prevent VSD in offspring.
  • COLUMN ON DIAGNOSIS & TREATMENT IN MDT MODE
    GAO Bo, XIAO Shu, CHEN Xiao-Wen, LI Ru, WANG Ling
    CJCP. 2024, 26(11): 1238-1244. https://doi.org/10.7499/j.issn.1008-8830.2406105
    A female infant, aged 11 days, was admitted due to dyspnea for 11 days after birth, with the main clinical manifestations of inspiratory dyspnea, feeding difficulties, and unusual facies (micrognathia, high palatal arch, cleft palate, glossoptosis, and oblique mouth to the right), and the preliminary diagnosis was Pierre-Robin syndrome. There was no marked improvement after treatment such as ventilator-assisted ventilation, nutrition, and surgical ligation of patent ductus arteriosus. Whole-exome sequencing of the family showed a heterozygous mutation of c.3082A>G (p.Ile1028 Val) in the CHD7 gene, which was a pathogenic mutation of CHARGE syndrome. The neonate was ultimately diagnosed with CHARGE syndrome, and the family decided to withdraw treatment due to concerns about poor prognosis. This article reports a case of CHARGE syndrome caused by a mutation in the CHD7 gene and the multidisciplinary diagnosis and treatment of this disease, in order to provide help for early disease identification and guide clinical decision-making.
  • CLINICAL RESEARCH
    HUANG Ming-Xin, YU Qing, LI Yuan-Yuan
    CJCP. 2024, 26(10): 1066-1071. https://doi.org/10.7499/j.issn.1008-8830.2405054
    Objective To explore the application of neurofeedback (NFB) combined with learning style profile (LSP) intervention training in children with high-functioning autism (HFA). Methods A prospective study was conducted to select 86 children with HFA admitted to the hospital from February 2022 to February 2024. They were divided into two groups according to the random number table method, with 43 cases in each group. In this double-blind study, the control group was given LSP intervention training, and the observation group was given NFB intervention on the basis of the treatment used in the control group. Both groups were treated for 6 months. The scores of Autism Behavior Checklist (ABC), Autism Treatment Evaluation Checklist (ATEC), Social Responsiveness Scale (SRS), and Pediatric Quality of Life (PedsQL) were compared between the two groups before intervention and at 6 months after intervention. The relationship of PedsQL score with ABC, ATEC, and SRS scores was analyzed in children with HFA. Results After 6 months of intervention, the scores of ABC, ATEC, and SRS in the observation group were significantly lower than those in the control group, while the PedsQL score in the observation group was significantly higher than that in the control group (P<0.05). The PedsQL score was negatively correlated with the ABC, ATEC, and SRS scores in children with HFA (r=-0.238, -0.381, -0.219 respectively; P<0.001). Conclusions NFB combined with LSP can effectively improve the clinical symptoms and social ability, control the development of the disease, and improve the quality of life in children with HFA.
  • CLINICAL RESEARCH
    WU Wen-Wen, RONG Hui, CHENG Rui, YANG Yang, SHEN Fei
    Objective To investigate the risk factors and adverse prognosis associated with initial non-invasive ventilation (NIV) failure in very low birth weight infants (VLBWI) with gestational age <32 weeks. Methods A retrospective collection of clinical data from preterm infants admitted to the neonatal intensive care unit (NICU) in 28 tertiary hospitals in Jiangsu Province from January 2019 to December 2021 was conducted. Based on the outcomes of initial NIV, the infants were divided into a successful group and a failure group to analyze the risk factors for NIV failure and adverse prognosis. Results A total of 817 infants were included, with 453 males (55.4%) and 139 failures (17.0%). The failure group had lower gestational age, birth weight, and 1-minute and 5-minute Apgar scores compared to the successful group (P<0.05). The failure group also had a higher proportion of respiratory distress syndrome (RDS) diagnosed upon NICU admission, higher maximum positive end-expiratory pressure during NIV, and higher percentages of reaching the required maximum fraction of inspired oxygen (FiO2) ≥30%, ≥35%, and ≥40% throughout the initial NIV process compared to the successful group (P<0.05). Gestational age (OR=0.671, 95%CI: 0.581-0.772), RDS (OR=1.955, 95%CI: 1.181-3.366), and FiO2 ≥30% (OR=2.053, 95%CI: 1.106-4.044) were identified as risk factors for initial NIV failure in these infants with gestational age <32 weeks (P<0.05). The failure group had higher incidences of complications such as pulmonary infections, pneumothorax, retinopathy of prematurity, moderate to severe bronchopulmonary dysplasia, and severe intraventricular hemorrhage during hospitalization, as well as longer hospital stays and higher total costs compared to the successful group (P<0.05). Conclusions Smaller gestational age, a diagnosis of RDS in the NICU, and achieving a maximum FiO2 ≥30% during the initial NIV process are risk factors for initial NIV failure in infants with gestational age <32 weeks. Initial NIV failure significantly increases the risk of adverse outcomes in this population.
  • CLINICAL RESEARCH
    YANG Min, WU Run-Qiu, CHEN Wen-Xin, QIAO Xue, YANG Hui.
    CSCD(1)
    Objective To evaluate the clinical efficacy of short-peptide exclusive enteral nutrition (EEN) therapy in inducing remission during active Crohn's disease (CD) in children, as well as changes in physical growth and nutritional indicators before and after treatment. Methods A prospective study included 43 children with active CD who were admitted to the Department of Gastroenterology, Children's Hospital of Nanjing Medical University from January 2017 to January 2024. The participants were randomly divided into a medication treatment group (13 children) and a short-peptide + medication treatment group (30 children). The changes in the Pediatric Crohn's Disease Activity Index (PCDAI) scores, physical growth, and nutritional indicators before and after treatment were analyzed in both groups. Results The PCDAI scores in the short-peptide + medication treatment group were lower than those in the medication treatment group after treatment (P<0.05). The Z-scores for weight-for-age, body mass index, and albumin levels were higher in the short-peptide + medication treatment group compared to the medication treatment group (P<0.05). In the patients with moderate to severe CD, total protein levels in the short-peptide + medication treatment group were significantly higher than those in the medication treatment group (P<0.05). Conclusions Short-peptide EEN therapy can induce clinical remission in children with active CD and promote their physical growth while improving their nutritional status.
  • GUIDELINE INTERPRETATION
    PAN Yan, XIE Li-Jian, JIAO Fu-Yong
    This paper comprehensively compares the Kawasaki disease (KD) guidelines from seven countries/regions, including China, Argentina, Europe, Italy, Japan, Spain, and the United States, as retrieved from the PubMed database. It analyzes the similarities and differences in KD diagnosis and treatment among these guidelines. The results show that all guidelines consistently recommend a single infusion of immunoglobulin at a dosage of 2 g/kg as the first-line treatment for KD, and none advocate for the routine use of methylprednisolone or prednisone as standalone first-line treatment options for KD. However, there are some differences among the guidelines regarding classification, diagnostic criteria, and specific treatment methods for KD. Therefore, it is essential to further strengthen international collaboration in guideline development and conduct multicenter clinical research in the future, aiming to achieve a higher level of expert consensus, thereby promoting the enhancement of KD diagnosis and treatment.
  • CLINICAL RESEARCH
    YANG Yang, ZHAO Ming-Yi
    Objective To investigate the epidemiological characteristics and changing trends of communicable diseases among children and adolescents in China from 1990 to 2021. Methods Based on the Global Burden of Disease Database, epidemiological indicators for communicable diseases among the population aged under 20 years in China from 1990 to 2021 were selected to analyze the burden of communicable diseases in this population, and a comparative analysis was performed with global data as well as data from Western Europe and North America. Results In 1990-2021, the overall burden of communicable diseases tended to decrease among children and adolescents in China. In 2021, the prevalence rate of communicable diseases in China was lower than the global prevalence rate and was higher than that in Western Europe and North America. There was a significant reduction in the mortality rate of communicable diseases, and the gap with Western Europe and North America gradually narrowed year by year. The overall incidence rate, mortality rate, and disability-adjusted life year rate of communicable diseases in males were higher than those in females, and respiratory infections and intestinal infections were more common in children aged <5 years, while the incidence rate of sexually transmitted diseases was higher in adolescents. Conclusions From 1990 to 2021, the disease burden of communicable diseases among the population under 20 years old in China has significantly decreased. However, there is still a certain gap compared to developed regions. Strengthening the prevention and control of diseases such as respiratory infections and acquired immunodeficiency syndrome, as well as enhancing health interventions for children under 5 years old, will help improve the overall health level of children and adolescents in China.
  • CLINICAL RESEARCH
    ZHANG Wei, WANG Yang, CAI Li-Jun
    CJCP. 2024, 26(11): 1176-1181. https://doi.org/10.7499/j.issn.1008-8830.2407129
    Objective To detect multidrug resistance gene locus mutations in children with Mycoplasma pneumoniae pneumonia through targeted high-throughput sequencing and to explore its clinical significance. Methods A retrospective analysis was conducted on the clinical data of 2 899 children with Mycoplasma pneumoniae pneumonia, who underwent respiratory pathogen-targeted high-throughput sequencing, treated at Hubei Maternal and Child Health Care Hospital between January and December 2023. The patients were divided into a mutation group (n=885) and a non-mutation group (n=2 014) based on whether there was a mutation in the 23SrRNA macrolide-resistant gene of Mycoplasma pneumoniae. Multivariate logistic regression analysis was used to investigate the risk factors for multidrug resistance gene locus mutations in children with Mycoplasma pneumoniae pneumonia. Results Among the 2 899 children, 885 cases (30.53%) had mutations in the 23SrRNA resistance gene, including 884 cases with the A2063G mutation and 1 case with the A2064G mutation. In children with 23SrRNA resistance gene mutations, treatment with doxycycline or ofloxacin was more effective than with azithromycin or clarithromycin, and doxycycline was more effective than ofloxacin (P<0.05). The mutation rate of resistance genes in children with Mycoplasma pneumoniae pneumonia increased with age (P<0.001). Multivariate logistic regression analysis showed that increased age, extrapulmonary infection, lung consolidation, prolonged fever, prolonged hospitalization, and elevated CRP levels were risk factors for 23SrRNA gene locus mutations (P<0.05). Conclusions Age, extrapulmonary infections, lung consolidation, duration of fever, length of hospitalization, and CRP levels are closely related to 23SrRNA resistance gene locus mutations. Detecting multidrug resistance gene locus mutations in children with Mycoplasma pneumoniae pneumonia can aid in early diagnosis and prediction of treatment efficacy, promoting rational clinical treatment.
  • CLINICAL RESEARCH
    ZHANG Su-Wei, ZHI Xian, WANG Meng-Yu, SHEN Dong-Lin
    CJCP. 2024, 26(10): 1108-1114. https://doi.org/10.7499/j.issn.1008-8830.2401129
    Objective To evaluate the preventive effects of Saccharomyces boulardii powder and tetragenous viable Bifidobacterium tablets on antibiotic-associated diarrhea (AAD) in infants and young children. Methods Children under three years old admitted to the Department of Pediatrics, Affiliated Hospital of Xuzhou Medical University due to non-gastrointestinal infections and requiring antibiotic treatment from July to December 2023 were enrolled. The children were randomly divided into a control group (n=47), a Saccharomyces boulardii group (n=70), and a Bifidobacterium group (n=65) using a random number table method. The control group received antibiotics and symptomatic supportive treatment according to relevant clinical guidelines. In addition to the treatment given to the control group, the Saccharomyces boulardii group and the Bifidobacterium group were respectively administered with Saccharomyces boulardii powder and tetragenous viable Bifidobacterium tablets. Based on the duration of probiotic use (7 days, 14 days, and 21 days), the Saccharomyces boulardii group was further divided into 7 d, 14 d, and 21 d subgroups, and similarly for the Bifidobacterium group. The incidence of AAD and ratio of cocci to bacilli in feces were compared among the groups after treatment. Results The incidence rate of AAD in both the Saccharomyces boulardii group and the Bifidobacterium group was lower than that in the control group (P<0.017). The duration of AAD and the length of hospital stay were shorter in the Saccharomyces boulardii and Bifidobacterium groups compared to the control group (P<0.05). In the control group, the ratio of cocci to bacilli in feces on days 7, 14, and 21 was higher than on day 1 (P<0.05). Within-group comparisons showed that the ratio of cocci to bacilli in feces on day 14 in the Bifidobacterium 14 d and 21 d groups were lower than on day 1 (P<0.05); and the ratios on day 14 in the control group, Saccharomyces boulardii 14 d group, Saccharomyces boulardii 21 d group, Bifidobacterium 14 d group, and Bifidobacterium 21 d group were lower than on day 7 (P<0.05). The ratios on day 21 in the control group and the Saccharomyces boulardii 21 d group were lower than on days 7 and 14 (P<0.05). Between-group comparisons indicated that on day 7, the ratios of cocci to bacilli in feces in the Saccharomyces boulardii 7 d, 14 d, 21 d groups, and Bifidobacterium 7 d, 14 d, 21 d groups were all lower than in the control group (P<0.05); on day 14, the ratios of cocci to bacilli in feces 14 d and 21 d groups were lower than in the control group and the Bifidobacterium 7 d group (P<0.05). Conclusions Both Saccharomyces boulardii and tetragenous viable Bifidobacterium can effectively improve gut microbiota and prevent the occurrence of AAD in infants and young children. Compared to short-term treatment, appropriately extending the duration of probiotic therapy can further improve the structure of gut microbiota.
  • CLINICAL RESEARCH
    FENG Zong-Tai, TANG Lian, YANG Zu-Ming, GAO Chu-Chu, LI Jia-Hui, CAI Yan, DUAN Lu-Fen
    CJCP. 2024, 26(11): 1162-1168. https://doi.org/10.7499/j.issn.1008-8830.2406078
    Objective To establish the pharmacokinetic model of linezolid in neonates, and to optimize the administration regimen. Methods A prospective study was conducted among 64 neonates with sepsis who received linezolid as anti-infective therapy, and liquid chromatography-tandem mass spectrometry was used to measure the plasma concentration of the drug. Clinical data were collected, and nonlinear mixed effects modeling was used to establish a population pharmacokinetic (PPK) model. Monte Carlo simulation and evaluation was performed for the optimal administration regimen of children with different features. Results The pharmacokinetic properties of linezolid in neonates could be described by a single-compartment model with primary elimination, and the population typical values for apparent volume of distribution and clearance rate were 0.79 L and 0.34 L/h, respectively. The results of goodness of fit, visualization verification, and the Bootstrap method showed that the model was robust with reliable results of parameter estimation and prediction. Monte Carlo simulation results showed that the optimal administration regimen for linezolid in neonates was as follows: 6 mg/kg, q8h, at 28 weeks of gestational age (GA); 8 mg/kg, q8h, at 32 weeks of GA; 9 mg/kg, q8h, at 34-37 weeks of GA; 11 mg/kg, q8h, at 40 weeks of GA. Conclusions The PPK model established in this study can provide a reference for individual administration of linezolid in neonates. GA and body weight at the time of administration are significant influencing factors for the clearance rate of linezolid in neonates.
  • CLINICAL RESEARCH
    LI Ying-Xue, WANG Dong-Juan, ZHOU Mao-Bin, SUN Hao-Xuan, HONG Si-Qi, JIANG Li, GUO Yi
    Objective To explore early diagnostic biological markers for Leigh syndrome caused by the m.8993T>G mutation. Methods A retrospective analysis was performed on the clinical data of four children diagnosed with m.8993T>G mutation-related mitochondrial disease at the Children's Hospital of Chongqing Medical University from January 2014 to January 2024. Additionally, a literature review was conducted. Results All four children had plasma amino acid and acylcarnitine analyses that revealed decreased citrulline levels, and one child was initially identified through neonatal genetic metabolic disease screening. According to the literature review, there were 26 children with mitochondrial disease and hypocitrullinemia caused by the m.8993T>G mutation (including the four children in this study). Among these, 12 children exhibited clinical phenotypes of Leigh syndrome or Leigh-like syndrome, while 18 children were identified with hypocitrullinemia and/or elevated levels of 3-hydroxyisovalerylcarnitine (C5-OH) during neonatal genetic metabolic disease screening. Conclusions Hypocitrullinemia may serve as a potential biomarker for the early diagnosis of m.8993T>G mutation-associated Leigh syndrome, detectable as early as during neonatal genetic metabolic disease screening.
  • REVIEW
    LIAO Man-Zhen, XIAO Yun-Bin
    Pulmonary arterial hypertension (PAH) has a subtle onset, rapid progression, and high mortality rate. Imaging evaluation is an important diagnostic and follow-up method for PAH patients. Right ventricular (RV) strain evaluation can identify early changes in RV function and predict the prognosis. Currently, various methods such as tissue Doppler imaging, velocity vector imaging, speckle tracking imaging, and cardiac magnetic resonance imaging can be used to evaluate RV strain in PAH patients. This article aims to summarize the research progress of RV strain imaging evaluation technology in PAH patients, in order to provide a basis for clinical diagnosis and follow-up of PAH patients.
  • CLINICAL RESEARCH
    LIU Yi-Bo, YAN Chong-Bing, ZHANG Yuan-Yang, WENG Bo-Wen, CAI Cheng
    CJCP. 2024, 26(11): 1148-1154. https://doi.org/10.7499/j.issn.1008-8830.2404065
    Objective To investigate the risk factors for bronchopulmonary dysplasia (BPD) in preterm infants, and to establish a risk prediction model. Methods A total of 120 preterm infants who were admitted to the neonatal intensive care unit of Shanghai Children's Hospital from January to December 2022 were included. According to the diagnostic criteria for BPD released by the National Institute of Child Health and Human Development in 2018, they were divided into a non-BPD group (84 infants) and a BPD group (36 infants). The clinical data of the infants and their mothers were compared between the two groups. The univariate analysis and the stepwise multivariate regression analysis were used to identify the risk factors for BPD and establish a risk prediction model. Results The results showed that a gestational age of <28 weeks, duration of noninvasive respiratory support, comorbidity with infectious pneumonia, and chorioamnionitis in the mother were independent risk factors for BPD in preterm infants (P<0.05). A nomogram model for predicting the development of BPD was established based on the risk factors, with an area under the receiver operating characteristic curve of 0.93, and the calibration curve of this nomogram had a slope of about 1. The goodness-of-fit test indicated the model fitted well (χ2=8.287, P=0.406). Conclusions A gestational age of <28 weeks, duration of noninvasive respiratory support, comorbidity with infectious pneumonia, and chorioamnionitis in the mother are independent risk factors for BPD in preterm infants.
  • REVIEW
    LI Ting, SONG Hong-Mei
    Inborn errors of immunity (IEI) are a diverse group of disorders caused by defects in immune system structure or function, involving both innate and adaptive immunity. The 2022 update of the IEI classification includes 485 distinct disorders, categorized into ten major disease groups. With the rapid development of molecular biology, the specific pathogenesis of many IEI has been revealed, making gene therapy possible in preclinical and clinical research of this type of disease. This article reviews the advancements in gene therapy for IEI, aiming to increase awareness and understanding of these disorders.
  • CLINICAL RESEARCH
    YI Jia-Qin, SUN Dan
    Objective To investigate the efficacy and safety of perampanel (PER) add-on therapy in children with epilepsy of genetic etiology. Methods A retrospective analysis was conducted on the clinical data of 53 children who attended the Department of Neurology, Wuhan Children's Hospital, from November 2020 to April 2023. All children received PER add-on therapy and were diagnosed with epilepsy of genetic etiology based on whole-exome sequencing. The primary outcome measure was the proportion of children with a reduction in seizure frequency of ≥50% at month 12 of PER treatment (i.e., response rate), and the secondary outcome measures were response rates at months 3 and 6 of treatment. The influencing factors for the efficacy of PER add-on therapy in the treatment of epilepsy of genetic etiology were analyzed, and adverse events were recorded. Results The median follow-up duration was 13.10 months. After 12 months of follow-up, 42 children were included in the analysis, comprising 25 boys (60%) and 17 girls (40%). The median initial dose of PER was 1.5 (1.0, 2.0) mg/d, and the median maintenance dose was 4.0 (3.0, 8.0) mg/d. The response rates to PER at months 3, 6, and 12 of treatment were 61% (30/49), 54% (25/46), and 48% (20/42), respectively. No significant difference in the efficacy of PER was observed between children with mutations in genes encoding different protein functions (P>0.05). The most common adverse event reported was fatigue, observed in 3 children (6%). Conclusions PER add-on therapy demonstrates good efficacy and safety in children with epilepsy of genetic etiology. No influencing factors for the efficacy of PER have been identified to date.
  • CLINICAL RESEARCH
    ZHU Liu-Rong, HE Xue-Hua, YUAN Yong-Hua, YUAN Hao, XIA Xiao-Hui
    Objective To investigate the changes in the serum levels of oxidized phospholipids (OxPLs) and endothelial nitric oxide synthase (eNOS) and their association with coronary artery disease (CAL) in children in the acute stage of Kawasaki disease (KD), as well as the clinical significance of OxPLs and eNOS. Methods A prospective study was conducted on 95 children in the acute stage of KD (KD group). According to the presence of absence of CAL, the KD group was further divided into a CAL subgroup and a non-CAL (NCAL) subgroup. Thirty children with fever due to lower respiratory tract infection were enrolled as the fever group. Thirty healthy children who underwent physical examination were enrolled as the healthy control group. The above groups were compared in terms of general information and serum levels of OxPLs, eNOS and other laboratory indexes, and the correlation between OxPLs level and eNOS level was analyzed. Results The KD group had a significantly higher level of OxPLs and a significantly lower level of eNOS compared with the fever group and the healthy control group (P<0.05). After treatment, the children with KD had a significantly decreased OxPLs level and a significantly increased eNOS level (P<0.05). Compared with the NCAL subgroup, the CAL subgroup had a significantly higher level of OxPLs and a significantly lower level of eNOS (P<0.05). Among the children of KD, the level of OxPLs was negatively correlated with that of eNOS (rs=-0.353, P<0.05). Conclusions Serum OxPLs and eNOS in the acute stage of KD may be involved in the development of CAL in children with KD, and therefore, they may be used as the biomarkers to predict CAL in these children.
  • CASE REPORT
    HE Hai-Lan, LIN Xue-Qin, WANG Xiao-Le, PENG Pan, XIAO Hui, YIN Fei, PENG Jing
    A boy, aged 7 months, presented with severe global developmental delay (GDD), refractory epilepsy, hypotonia, nystagmus, ocular hypertelorism, a broad nasal bridge, everted upper lip, a high palatal arch, and cryptorchidism. Genetic testing revealed a de novo heterozygous missense mutation of c.364G>A(p.E122K) in the EEF1A2 gene, and finally the boy was diagnosed with autosomal dominant developmental and epileptic encephalopathy 33 caused by the EEF1A2 gene mutation. This case report suggests that for children with unexplained infancy-onset severe to profound GDD/intellectual disability and refractory epilepsy, genetic testing for EEF1A2 gene mutations should be considered. This is particularly important for those exhibiting hypotonia, nonverbal communication, and craniofacial deformities, to facilitate a confirmed diagnosis.
  • CLINICAL RESEARCH
    LI Liu-Xuan, LUO Man-Jun, RUAN Xiao-Rui, LIU Han-Jun, TANG Jia-Peng, YANG Gui-Hong, QIN Jia-Bi
    CJCP. 2024, 26(10): 1019-1026. https://doi.org/10.7499/j.issn.1008-8830.2404116
    Objective To explore the associations of parental smoking and alcohol consumption during the periconceptional period and their interactions with risk of congenital heart disease (CHD) in offspring. Methods The parents of children with simple CHD aged 0 to 1 year (n=683) were recruited as the case group, while the parents of healthy children aged 0 to 1 year (n=740) served as the control group. A case-control study was conducted, and a questionnaire was used to collect information on perinatal exposures. After controlling for relevant confounding factors using multivariate logistic regression analysis and propensity score matching, the associations of parental smoking and alcohol consumption during the periconceptional period and their interactions with CHD were examined, as well as the cumulative effects of smoking and drinking on CHD risk. Results Maternal active smoking (OR=2.91, 95%CI: 1.60-5.30), passive smoking (OR=1.94, 95%CI: 1.56-2.42), and alcohol consumption (OR=2.59, 95%CI: 1.89-3.54), as well as paternal smoking (OR=1.52; 95%CI: 1.22-1.90) and drinking (OR=1.48, 95%CI: 1.19-1.84), were associated with an increased risk of CHD in offspring. There was no interaction between parental smoking and drinking behaviors during the periconceptional period concerning the risk of CHD in offspring (P>0.05). The more parents' smoking and drinking behaviors during the perinatal pregnancy, the higher the risk of CHD in their offspring (OR=1.50, 95%CI: 1.36-1.65). Conclusions Parental smoking and alcohol consumption during the periconceptional period are associated with the occurrence of CHD in offspring, and there is a cumulative effect on CHD risk, suggesting that reducing tobacco and alcohol exposure during the periconceptional period may lower the incidence of CHD.
  • CLINICAL RESEARCH
    ZHAO Xue-Qi, LU Wen-Li, LI Wen-Ying, WANG Jun-Qi, DONG Zhi-Ya, XIAO Yuan, ZHANG Xiao-Fei, JIANG Li, MA Xiao-Yu
    Objective To explore the application of the colloidal gold method and chemiluminescence method in detecting gonadotropin (Gn) in morning urine for assessing pubertal development status in children. Methods A total of 132 children diagnosed with central precocious puberty (CPP), early and fast puberty (EFP), and premature thelarche (PT) at Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine from November 2021 to December 2022 were included, along with 685 healthy children who underwent routine health examinations at the hospital's pediatric health care department during the same period. All 132 patients underwent a gonadotropin-releasing hormone (GnRH) stimulation test. Both patients and healthy children had their urinary Gn levels measured using the colloidal gold method and chemiluminescence method, including levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH). The correlation between serum Gn and urinary Gn detected by the two methods, as well as the correlation between Tanner stages of healthy children and urinary Gn, was analyzed. Results Urine Gn levels detected by both the colloidal gold method and chemiluminescence method showed a positive correlation with serum LH baseline values, LH peak values, baseline LH/FSH ratios, and peak LH/FSH ratios (P<0.05). In healthy children, urinary LH levels detected by the chemiluminescence method gradually increased from Tanner stage Ⅰ to Ⅳ (P<0.05), while urinary FSH levels were lower in Tanner stage I than in stages Ⅱ, Ⅲ, and IV (P<0.05). Urinary LH levels detected by the colloidal gold method were lower in Tanner stage I compared to stages Ⅱ, Ⅲ, and IV, with the highest levels observed in Tanner stage Ⅳ (P<0.05). Additionally, urinary FSH levels in Tanner stage Ⅲ were higher than in stages Ⅰ and Ⅱ (P<0.05). The area under the receiver operating characteristic curve for evaluating Tanner stages I and II in healthy children using urinary LH and FSH levels by the chemiluminescence method and urinary LH levels by the colloidal gold method were 0.730, 0.699, and 0.783, respectively. Conclusions The colloidal gold method and chemiluminescence method for detecting Gn in morning urine show good correlation with serum Gn levels. As a non-invasive and convenient detection method, the colloidal gold method can serve as a useful tool for screening the onset of pubertal development in children.
  • CLINICAL RESEARCH
    QIN Yu-Jie, YANG Yu-Xia, LI Jun-Xiang, GUAN Jun
    Objective To study the risk factors for hypoxemia in children with severe Mycoplasma pneumoniae pneumonia (SMPP). Methods A retrospective collection of clinical data from children diagnosed with SMPP at the Third Affiliated Hospital of Zhengzhou University from June to December 2023 was conducted. The patients were categorized into hypoxemia and non-hypoxemia groups. Logistic regression analysis was used to assess the risk factors for hypoxemia, and receiver operating characteristic (ROC) curve analysis was employed to analyze the diagnostic performance of various indicators. Results A total of 113 children with SMPP were included. Univariate logistic regression analysis showed that ferritin, aspartate aminotransferase, creatinine, creatine kinase isoenzyme, lactate dehydrogenase, alpha-hydroxybutyrate dehydrogenase, immunoglobulin G, complement C3, complement C4, age, extrapulmonary complications, and a chest computed tomography (CT) scan showing a bronchiolitis pattern were significant factors for hypoxemia in children with SMPP (P<0.05). Multivariate logistic regression analysis revealed that elevated ferritin levels, presence of extrapulmonary complications, and a bronchiolitis pattern on lung CT were independent risk factors for hypoxemia in these patients (P<0.05). The ROC curve analysis indicated that the combination of these three indicators for predicting hypoxemia had a sensitivity of 71.9%, a specificity of 95.1%, and an area under the curve of 0.888 (95%CI: 0.809-0.968). Conclusions In children with SMPP, when there are elevated ferritin levels, a bronchiolitis pattern on chest CT, and the presence of extrapulmonary complications, there should be a high level of vigilance for the potential development of hypoxemia.
  • CLINICAL RESEARCH
    LIU Qing, ZHANG Wei-Chun, CHEN Bo, SONG Ya-Wen.
    CJCP. 2024, 26(12): 1261-1266. https://doi.org/10.7499/j.issn.1008-8830.2404038
    Objective To investigate the expression levels of ghrelin and liver-expressed antimicrobial peptide-2 (LEAP-2) in children with idiopathic short stature (ISS) to provide reference for further understanding the etiology of short stature. Methods A prospective study was conducted from December 2021 to October 2023, involving 46 children diagnosed with ISS (ISS group) and 46 healthy children with normal height (control group) at the First Affiliated Hospital of Shihezi University. General data and serum levels of ghrelin and LEAP-2 were compared between the two groups. The predictive value of these two indicators for ISS was evaluated using receiver operating characteristic (ROC) curve analysis. Results The serum level of ghrelin in the ISS group was higher than that in the control group, while the level of LEAP-2 was lower (P<0.05). The ratio of LEAP-2 to ghrelin was lower in the ISS group compared to the control group (P<0.05). Multivariate logistic regression analysis showed that HtSDS, IGF-1, ghrelin, LEAP-2, and the ratio of LEAP-2/ghrelin were independently associated with the occurrence of ISS (P<0.05). ROC curve analysis indicated that the AUCs for ghrelin, LEAP-2, the ratio of ghrelin to LEAP-2, and their combination in predicting ISS were all >0.8. The optimal cutoff values for ghrelin, LEAP-2, and the LEAP-2/ghrelin ratio were 5 607 pg/mL, 1 155 pg/mL, and 0.212, respectively. In children with ISS, ghrelin showed a negative correlation with chronological age, LEAP-2, and the LEAP-2/ghrelin ratio (P<0.05), while it was positively correlated with growth rate and peak growth hormone levels (P<0.05). LEAP-2 was negatively correlated with growth rate, peak growth hormone levels, and ghrelin (P<0.05), but positively correlated with chronological age and the LEAP-2/ghrelin ratio (P<0.05). Conclusions Ghrelin and LEAP-2 are correlated with the occurrence of ISS, which may provide references for the diagnosis and etiological analysis of children with ISS.
  • SERIES REVIEW—DIAGNOSIS AND TREATMENT OF GROWTH DISORDERS
    LI Xin, WEN Tian, FENG Bi-Yun, WANG Xiu-Min
    Patients with Noonan syndrome (NS) are born with normal or slightly lower body length and weight compared to the normal ranges. However, their height gradually falls behind that of the general population, leading to growth retardation and delayed puberty. In China, the incidence of short stature in patients with NS is approximately 65%. Short stature in these patients arises from multiple causes, including feeding difficulties in infancy, comorbidities such as congenital heart disease, genetic heterogeneity, and disorders of the growth hormone/insulin-like growth factor-1 axis. Growth hormone is commonly used to alleviate symptoms of short stature. This article reviews the growth and development patterns at different stages of NS, analyzes the causes of short stature, and summarizes the latest advances in treatment to provide new insights for the diagnosis and management of short stature in patients with NS.
  • CLINICAL RESEARCH
    ZHANG Li-Ming, WU Sheng-Nan, GUO Ya-Nan, YANG Jian-Wei, SUN Hong-Qi, YANG Jun-Mei, CHEN Yong-Xing
    Objective To investigate the clinical and genetic features of children with 3-methylcrotonyl-coenzyme A carboxylase deficiency (MCCD). Methods A retrospective analysis was conducted on the clinical manifestations and genetic testing results of six children with MCCD who attended Children's Hospital Affiliated to Zhengzhou University from January 2018 to October 2023. Results Among the six children with MCCD, there were 4 boys and 2 girls, with a mean age of 7 days at the time of attending the hospital and 45 days at the time of confirmed diagnosis. Of all children, one had abnormal urine odor and five had no clinical symptoms. All six children had increases in blood 3-hydroxyisovaleryl carnitine and urinary 3-hydroxyisovaleric acid and 3-methylcrotonoylglycine, and five of them had a reduction in free carnitine. A total of six mutations were identified in the MCCC1 gene, i.e., c.1630del(p.R544Dfs*2), c.269A>G(p.D90G), c.1609T>A(p.F537I), c.639+2T>A, c.761+1G>T, and c.1331G>A(p.R444H), and three mutations were identified in the MCCC2 gene, i.e., c.838G>T(p.D280Y), c.592C>T(p.Q198*,366), and c.1342G>A(p.G448A). Among these mutations, c.269A>G(p.D90G) and c.1609T>A(p.F537I) had not been previously reported in the literature. There was one case of maternal MCCD, and the child carried a heterozygous mutation from her mother. Five children with a reduction in free carnitine were given supplementation of L-carnitine, and free carnitine was restored to the normal level at the last follow-up visit. Conclusions This study identifies two new mutations, c.269A>G(p.D90G) and c.1609T>A(p.F537I), thereby expanding the mutation spectrum of the MCCC1 gene. A combination of blood amino acid and acylcarnitine profiles, urine organic acid analysis, and genetic testing can facilitate early diagnosis and treatment of MCCD, and provide essential data for genetic counseling.