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2024 Vol.  26 No.  11
Published: 2024-11-26
GUIDELINE INTERPRETATION
COLUMN ON DIAGNOSIS & TREATMENT IN MDT MODE
SERIES REVIEW—DIAGNOSIS AND TREATMENT OF GROWTH DISORDERS
CLINICAL RESEARCH
EXPERIMENTAL RESEARCH
CASE REPORT
REVIEW
GUIDELINE INTERPRETATION
1127 ZHANG Xin-Yin, LIU Li-Ting, BAO Lei, SHI Yuan
')" href="#"> Interpretation of key points from the "Expert Consensus on Diagnosis and Management of Neonatal Cow Milk Protein Allergy (2023)" Hot!
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.
2024 Vol. 26 (11): 1127-1134 [Abstract] ( 2043 ) [HTML 1KB] [PDF 821KB] ( 1265 )
SERIES REVIEW—DIAGNOSIS AND TREATMENT OF GROWTH DISORDERS
1135 GU Wei, ZHAO Xue
Reflections on the clinical diagnosis and management of Turner syndrome
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.
2024 Vol. 26 (11): 1135-1140 [Abstract] ( 1682 ) [HTML 1KB] [PDF 627KB] ( 916 )
CLINICAL RESEARCH
1141 CHENG Wang, WANG Cheng-Ju, SHEN Ya-Li, WU Zhi-Feng, ZHANG Yu-Ping.
Neurodevelopmental catch-up status and correction termination age in preterm infants of different gestational ages
Objective To investigate the status of neurodevelopmental catch-up and suitable correction termination age in preterm infants of different gestational ages. Methods A total of 918 preterm infants without significant high-risk factors who attended the outpatient service of the Second Affiliated Hospital of Army Medical University from January 1, 2018 to March 1, 2023 were included. The data on developmental quotient (DQ) in Gesell Developmental Schedule (GDS) were collected, while 6 684 full-term infants were included as controls. According to the gestational age, the infants were divided into preterm groups (early preterm, moderate preterm, and late preterm births) and a full-term group, and these groups were compared in terms of DQ of each functional area and its changing trend with 48 months of chronological age. Results The DQ values of all functional areas showed a catch-up trend from 6 months to 48 months of chronological age in each preterm group (P<0.05). There were no significant differences in the DQ values of all functional areas between the late preterm and full-term groups at the chronological age of 36 months (P>0.05). There were significant differences in the DQ values of most functional areas between the moderately/early preterm groups and the full-term group at the chronological age of 36 months (P<0.05), but no significant differences were found in the DQ values of all functions areas at the chronological age of 48 months (P>0.05). Conclusions The correction termination age for neurodevelopment in preterm infants may need to extend beyond 36 months, and the smaller the gestational age, the longer the time required for correction.
2024 Vol. 26 (11): 1141-1147 [Abstract] ( 1349 ) [HTML 1KB] [PDF 714KB] ( 599 )
1148 LIU Yi-Bo, YAN Chong-Bing, ZHANG Yuan-Yang, WENG Bo-Wen, CAI Cheng
Risk factors for bronchopulmonary dysplasia in preterm infants and establishment of a prediction model
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.
2024 Vol. 26 (11): 1148-1154 [Abstract] ( 1462 ) [HTML 1KB] [PDF 677KB] ( 705 )
1155 HU Yang, ZHUANG Yan, WU Yun-Qin, XIAO Zheng-Hui
Application of exchange transfusion in neonates with severe pertussis and hyperleukocytosis
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.
2024 Vol. 26 (11): 1155-1161 [Abstract] ( 1757 ) [HTML 1KB] [PDF 864KB] ( 721 )
1162 FENG Zong-Tai, TANG Lian, YANG Zu-Ming, GAO Chu-Chu, LI Jia-Hui, CAI Yan, DUAN Lu-Fen
Establishment of a population pharmacokinetic model for linezolid in neonates with sepsis
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.
2024 Vol. 26 (11): 1162-1168 [Abstract] ( 1516 ) [HTML 1KB] [PDF 806KB] ( 642 )
1169 PENG Yi-Lu, WANG Hong-Mei, LI Chi, ZHANG Jiao-Sheng, QI Li-Feng
Clinical characteristics and risk factors of carbapenem-resistant Pseudomonas aeruginosa infection in children
Objective To investigate the clinical characteristics of carbapenem-resistant Pseudomonas aeruginosa (CRPA) infection in children and the risk factors for such infection. Methods A retrospective analysis was conducted among 60 children with CRPA infection (CRPA group) who were hospitalized in Shenzhen Children's Hospital, China Medical University, from January 2018 to September 2023, and 82 children with carbapenem-sensitive Pseudomonas aeruginosa infection during the same period were randomly selected as the control group. A multivariate logistic regression analysis was used to investigate the risk factors for CRPA infection. Results Among the 60 children with CRPA infection, 31 (52%) were admitted to the intensive care unit (ICU), and the lower respiratory tract was the main detection site in 32 children (53%). The univariate analysis showed that sex, history of invasive treatment within 1 year, antibiotic use before admission, presence of underlying condition, ICU admission, invasive procedure after admission, antibiotic use for >14 days, and the type of antibiotics used of ≥3 were associated with CRPA infection (P<0.05). The multivariate logistic regression analysis showed that the history of invasive treatment within 1 year (OR=3.228, P<0.05), antibiotic use before admission (OR=4.052, P<0.05), antibiotic use for >14 days (OR=4.961, P<0.05), and the type of antibiotics used of ≥3 (OR=3.687, P<0.05) were independent risk factors for CRPA infection in children. Conclusions CRPA infection in children may be associated with a history of invasive treatment within the past year, antibiotic use before admission, duration of antibiotic use after admission, and the diversity of antibiotic types used.
2024 Vol. 26 (11): 1169-1175 [Abstract] ( 1319 ) [HTML 1KB] [PDF 601KB] ( 917 )
1176 ZHANG Wei, WANG Yang, CAI Li-Jun
Analysis of multidrug resistance gene locus mutations and clinical significance in children with Mycoplasma pneumoniae pneumonia
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.
2024 Vol. 26 (11): 1176-1181 [Abstract] ( 1524 ) [HTML 1KB] [PDF 580KB] ( 842 )
1182 CHENG Gui-Lan, XU Bei-Xue, JIA Lin
Risk factors for the occurrence of bronchiolitis obliterans in children with refractory Mycoplasma pneumoniae pneumonia and the predictive value of the factors
Objective To investigate the risk factors for the occurrence of bronchiolitis obliterans (BO) in children with refractory Mycoplasma pneumoniae pneumonia (RMPP) and their predictive value of the factors. Methods A retrospective analysis was performed for the medical records of 156 children with RMPP who were admitted to the hospital from May 2020 to March 2024. According to the diagnostic criteria for BO, they were divided into a BO group (n=76) and a non-BO group (n=80). A logistic regression analysis was used to investigate risk factors for the occurrence of BO, and the receiver operating characteristic (ROC) curve was used to assess the value of the model established based on the risk factors in predicting BO. Results Compared with the non-BO group, the BO group had a significantly longer duration of fever, a significantly higher leukocyte count, and a significantly lower albumin level (P<0.05). Compared with the non-BO group, the BO group had a significantly lower proportion of children with initiation of macrolide antibiotic therapy within 5 days, initiation of glucocorticoid therapy within 2 weeks, or initiation of bronchoscopic therapy within <2 weeks (P<0.05). The ROC curve analysis showed that the logistic regression model established based on the above six indicators had an area under the curve of 0.901 (95%CI: 0.849-0.953, P<0.001) in predicting the occurrence of BO, with a sensitivity of 0.893 and a specificity of 0.827 at the optimal cut-off value of 0.341. Conclusions The logistic regression model established based on duration of fever, leukocyte count, albumin, initiation of macrolide antibiotic therapy within 5 days, initiation of glucocorticoid therapy within 2 weeks, and initiation of bronchoscopic therapy within 2 weeks has relatively high sensitivity and specificity in predicting the occurrence of BO in children with RMPP.
2024 Vol. 26 (11): 1182-1186 [Abstract] ( 1329 ) [HTML 1KB] [PDF 586KB] ( 1075 )
1187 XU Ting-Ting, FENG Yong, SHANG Yun-Xiao
Application of interrupter resistance pulmonary function testing in the diagnosis of asthma in preschool children: a single-center study
Objective To investigate the value of interrupter resistance (Rint) pulmonary function testing in the diagnosis of asthma in preschool children, and to compare the significance of Rint pulmonary function testing versus impulse oscillometry (IOS) in the diagnosis of asthma. Methods A prospective study was conducted among 108 children with recurrent wheezing, aged 4 to <6 years, who were admitted from July 2022 to November 2023. According to the treatment outcome, they were divided into an asthmatic group (61 children) and a non-asthmatic group (47 children). Rint pulmonary function parameters and IOS parameters were analyzed for both groups, and the two tests were compared in terms of feasibility and diagnostic value. Results Compared with the non-asthmatic group, the asthmatic group had significantly higher percentage of actual measured value to predicted value for Rint and percent changes in the measured value and predicted value of Rint (P<0.05). The receiver operating characteristic curve analysis showed that the percent change in the predicted value of Rint had an optimal cut-off value of 32.0% in the diagnosis of asthma in preschool children, with an area under the curve (AUC) of 0.705, a sensitivity of 41.0%, and a specificity of 91.5% (P<0.05). In terms of the degree of completion, 18 children (16.7%) failed to complete the IOS test, but they could successfully complete Rint pulmonary function testing with good quality control. Rint pulmonary function testing and IOS had a similar area under the curve in the diagnosis of asthma in preschool children (P>0.05). Conclusions Rint pulmonary function testing can be used to assist in the diagnosis of asthma in preschool children, with a similar diagnostic value to IOS and a relatively high level of feasibility. A percent change of ≥32% in the predicted value of Rint in the bronchial dilation test can be used as a cut-off value for the diagnosis of asthma in preschool children.
2024 Vol. 26 (11): 1187-1193 [Abstract] ( 1382 ) [HTML 1KB] [PDF 594KB] ( 548 )
1194 LI Dong-Dan, YE Xiao-Lin, WANG Mei-Chen, HUANG Hong-Mei, YAN Jie, ZHANG Tian-Zhuo, YU Fei-Hong, GUAN De-Xiu, YANG Wen-Li, XIA Lu-Lu, WU Jie
Clinical characteristics and nutritional status of children with Crohn's disease and risk factors for malnutrition
Objective To investigate the nutritional status of children with Crohn's Disease (CD) at diagnosis and its association with clinical characteristics. Methods A retrospective analysis was performed for the clinical data and nutritional status of 118 children with CD who were admitted to Beijing Children's Hospital, Capital Medical University, from January 2016 to January 2024. A multivariate logistic regression analysis was used to investigate the risk factors for malnutrition. Results A total of 118 children with CD were included, among whom there were 68 boys (57.6%) and 50 girls (42.4%), with a mean age of (11±4) years. Clinical symptoms mainly included recurrent abdominal pain (73.7%, 87/118), diarrhea (37.3%, 44/118), and hematochezia (32.2%, 38/118), and 63.6% (75/118) of the children had weight loss at diagnosis. The incidence rate of malnutrition was 63.6% (75/118), and the children with moderate or severe malnutrition accounted for 67% (50/75). There were 50 children (42.4%) with emaciation, 8 (6.8%) with growth retardation, and 9 (7.6%) with overweight or obesity. Measurement of nutritional indices showed a reduction in serum albumin in 83 children (70.3%), anemia in 74 children (62.7%), and a reduction in 25 hydroxyvitamin D in 15 children (60%, 15/25). The children with malnutrition had significantly higher disease activity, proportion of children with intestinal stenosis, and erythrocyte sedimentation rate and a significant reduction in serum albumin (P<0.05). The multivariate logistic regression analysis showed that intestinal stenosis was an independent risk factor for malnutrition in children with CD (OR=4.416, P<0.05). Conclusions There is a high incidence rate of malnutrition in children with CD at diagnosis, which is associated with disease activity and disease behavior. The nutritional status of children with CD should be closely monitored.
2024 Vol. 26 (11): 1194-1201 [Abstract] ( 953 ) [HTML 1KB] [PDF 628KB] ( 805 )
1202 WANG Shu-Jing, LI Yan, HU Meng-Zhu, ZHU Ying-Hong, CUI Nai-Xue
Screen exposure status and related factors in children with epilepsy
Objective To understand the status of screen exposure in children with epilepsy and analyze the influencing factors for screen exposure time, providing a scientific basis for managing screen exposure in these children. Methods A convenience sampling method was used to select 275 children with epilepsy from outpatient clinics or those undergoing 24-hour electroencephalogram monitoring at two tertiary hospitals in Jinan from March to June 2023. Their parents (fathers or mothers) completed a questionnaire to collect data on screen exposure, parental screen regulation behaviors, and related information about the children and their families. The Wilcoxon rank-sum test or the Kruskal-Wallis H test was used to conduct a univariate analysis of the average screen exposure time of children on school days and weekends, as well as the daily average screen exposure time. A multivariate logistic regression analysis was used to identify the risk factors for children whose screen exposure time exceeded the recommended guidelines (average screen exposure time on school days >1 hour or average on weekends >2 hours). Results The median screen exposure duration on school days was 40 minutes, while on weekends it was 120 minutes. Among the children studied, 23.1% (63/273) had average screen exposure time exceeding 1 hour on school days, and 42.5% (117/275) had average screen exposure time exceeding 2 hours on weekends. Four children experienced seizures while using screen devices. Multivariate logistic regression analysis indicated that using screen devices shortly before sleep, lower educational levels of parents, caregivers discussing screen content with children, and longer seizure durations in children were risk factors for exceeding recommended guidelines (P<0.05). Conclusions Some children with epilepsy have a screen exposure time exceeding the recommended guidelines. A longer seizure duration, lower parental education levels, and permissive digital parenting are closely associated with children's screen exposure time exceeding the recommended guidelines. Families and children exhibiting these characteristics should be prioritized for attention and health education.
2024 Vol. 26 (11): 1202-1210 [Abstract] ( 766 ) [HTML 1KB] [PDF 623KB] ( 629 )
1211 JIA Xiao-Pei, LIAN An-Na, CUI Ding-Ding, TAO Ye-Qing, ZHU Ping, QI Wen-Jing, WANG Chun-Mei
Childhood acute lymphoblastic leukemia with CREBBP gene mutation: a clinical analysis of 14 cases
Objective To investigate the clinical features and prognosis of childhood acute lymphoblastic leukemia (ALL) with CREBBP gene mutation. Methods A retrospective analysis was performed for the clinical data of 14 ALL children with CREBBP gene mutation who were admitted to Children's Hospital of the First Affiliated Hospital of Zhengzhou University from January 2016 to December 2023. Results The ALL patients with CREBBP gene mutation accounted for 1.5% (14/963) among all children diagnosed with ALL during the same period of time, among whom there were 4 boys (29%) and 10 girls (71%), with a median age of 4 years and 3.5 months. All children had an immunological type of B-cell ALL and concurrent mutations in other genes including NRAS, KRAS, ETV6, FLT3, PAX5, SH2B3, CDKN2A, and CDKN2B, and 4 children had karyotype abnormality. All 14 children received induction therapy with the VDLP regimen, with a complete remission (CR) rate of 79% (11/14) after the first course of treatment. Three children experienced bone marrow recurrence alone, with a recurrence rate of 21% (3/14), among whom 1 child achieved CR after blinatumomab therapy and 2 received bridging hematopoietic stem cell transplantation after chemotherapy for recurrence. Among the 14 children, 1 died due to treatment discontinuation and 13 achieved disease-free survival. The 5-year overall survival rate was 92%±7%, and the event-free survival rate was 73%±13%. Conclusions ALL with CREBBP gene mutation is more common in girls and has a low induction remission rate and a high recurrence rate, and it is often accompanied by other types of gene mutations and abnormal karyotypes. Most children with recurrence can achieve long-term survival after immunotherapy or hematopoietic stem cell transplantation.
2024 Vol. 26 (11): 1211-1217 [Abstract] ( 974 ) [HTML 1KB] [PDF 576KB] ( 763 )
EXPERIMENTAL RESEARCH
1218 CHENG Yong-Feng, SHEN Yi-Ping, WANG Xue-Mei, LI Dan-Lu, FAN Chun-Yan, MAIMAITI Gulibaha, YAN Mei
Mechanism by which mycobacterial antigen 85B inhibits autophagy and promotes apoptosis in Hodgkin lymphoma cells
Objective To investigate the mechanism by which mycobacterial antigen 85B (Ag85B) inhibits autophagy and promotes apoptosis in Hodgkin lymphoma (HL) cells. Methods The clinical data and pathological tissue slides were retrospectively collected from 80 HL children and 30 children with reactive lymphadenopathy (control group) treated at the First Affiliated Hospital of Xinjiang Medical University. Immunohistochemical analysis was performed to assess the expression of microtubule-associated protein 1 light chain 3 (LC3), sequestosome 1 (P62/SQSTM1), and Beclin-1 in the pathological tissues of HL and control groups. Human Hodgkin lymphoma cells (HDLM-2) were divided into the HDLM-2 group and the HDLM-2+Ag85B groups (with Ag85B concentrations of 0.5, 1, 2, and 4 μg/mL). The CCK8 method was used to measure HDLM-2 cell proliferation; qRT-PCR was employed to detect the expression of LC3, P62, Beclin-1, Akt, and mTOR mRNA in cells. An apoptosis kit was used to detect cell apoptosis. Results The positive expression of LC3 and Beclin-1 in the HL group were higher than those in the control group (P<0.05), while the positive expression of P62 was lower than that in the control group (P<0.05). In stages III-IV compared to stages I-II, the positive expression of LC3 and Beclin-1 increased, while the positive expression of P62 decreased (P<0.05). Cell experiment results showed that the HDLM-2+Ag85B group had suppressed cell proliferation compared to the HDLM-2 group, with decreased mRNA expression of LC3 and Beclin-1, and increased mRNA expression of P62, PI3K, Akt, and mTOR, leading to increased cell apoptosis. Notably, when Ag85B was at a concentration of 2 μg/mL, it had the strongest effect on HDLM-2 cells after 24 hours (P<0.05). Conclusions Autophagy is enhanced in children with HL and increases with disease stage. Ag85B can inhibit the proliferation and autophagy of HL tumor cells and promote apoptosis, possibly related to the activation of the PI3K/Akt/mTOR pathway.
2024 Vol. 26 (11): 1218-1224 [Abstract] ( 824 ) [HTML 1KB] [PDF 1069KB] ( 510 )
CASE REPORT
1225 YANG Jing-Hui, ZHOU Qing-Mei, XU Xin-Yu, YAO Xiang-Mei, LUO Yu-Mei, CHEN Qian-Ting, GUO Zheng-Zheng, LI Tian-He
Aggressive natural killer cell leukemia with hemophagocytic lymphohistiocytosis: a case report
A boy, aged 14 years, was admitted due to recurrent cough and expectoration for more than 1 month, with aggravation and fever for 2 days. After admission, he presented with tachypnea and a significant reduction in transcutaneous oxygen saturation, and emergency chest CT examination showed large patchy exudation and consolidation of both lungs. The boy was given tracheal intubation and invasive mechanical ventilation immediately, and his condition was improved after active symptomatic treatment. On the 10th day of hospitalization, the boy experienced fever again, and the laboratory tests showed positive results for Epstein-Barr virus and Mycoplasma antibody IgM, along with pancytopenia, elevated triglycerides, decreased fibrinogen, and increased levels of ferritin and soluble CD25. The boy was diagnosed with hemophagocytic lymphohistiocytosis. Bone marrow biopsy showed the presence of atypical lymphocytes, and aggressive natural killer cell leukemia was considered according to clinical manifestations and flow cytometry immunophenotype. Therefore, the possibility of hemophagocytic lymphohistiocytosis should be suspected in case of severe infection with pancytopenia and rapid disease progression, and hematological malignancies should also be ruled out. Bone marrow biopsy should be performed as early as possible to make a confirmed diagnosis and perform timely treatment.
2024 Vol. 26 (11): 1225-1230 [Abstract] ( 868 ) [HTML 1KB] [PDF 1692KB] ( 910 )
REVIEW
1231 LIU Yu-Mei, LIU Tian-Yu, NONG Shao-Han, ZHOU Xiao-Guang
Research progress on neurodevelopmental disorders associated with congenital heart disease
The incidence and disability rate of neurodevelopmental disorders in children are high, making it a significant public health issue affecting children's health globally. Neurodevelopmental disorders are particularly common in children with congenital heart disease (CHD), with clinical characteristics varying by type of CHD, surgical approach, age stage, and the presence of different complications or comorbidities. In recent years, based on the intervention model of "early diagnosis and early treatment," foreign studies have begun to explore new techniques for preventive early intervention in high-risk children with neurodevelopmental disorders, achieving promising results. This paper reviews the clinical characteristics of neurodevelopmental disorders associated with CHD, aiming to provide a theoretical basis for implementing new preventive early intervention techniques for children with CHD, thereby further reducing the incidence of neurodevelopmental disorders associated with CHD.
2024 Vol. 26 (11): 1231-1237 [Abstract] ( 808 ) [HTML 1KB] [PDF 515KB] ( 577 )
COLUMN ON DIAGNOSIS & TREATMENT IN MDT MODE
1238 GAO Bo, XIAO Shu, CHEN Xiao-Wen, LI Ru, WANG Ling
CHARGE syndrome in a neonate
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.
2024 Vol. 26 (11): 1238-1244 [Abstract] ( 1644 ) [HTML 1KB] [PDF 1045KB] ( 706 )
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