CJCP
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2023 Vol.  25 No.  7
Published: 2023-08-02
TOPIC OF EPIDEMIC PREVENTION AND CONTROL
GUIDELINE INTERPRETATION
COLUMN ON DIAGNOSIS & TREATMENT IN MDT MODE
STANDARD·PROTOCOL·GUIDELINE
CLINICAL RESEARCH
EXPERIMENTAL RESEARCH
REVIEW
STANDARD·PROTOCOL·GUIDELINE
663 Expert Group on Homogeneous Management Model for Diagnosis and Treatment of Rare Diseases in Children
Expert recommendations on homogenization management of the diagnosis and treatment of rare diseases in children
Rare diseases in children are characterized by low prevalence, complex pathogenesis, variety, and difficulty in the diagnosis and treatment. With the development of medical services, progress has been made in the diagnosis and treatment of rare diseases. However, due to asymmetric allocation of medical resources at different levels, there are still many shortcomings in the establishment and promotion of the homogenized management system of rare disease diagnosis and treatment. In order to further standardize the homogenized management of rare diseases in children, achieve early and accurate diagnosis and treatment, and improve the quality of life of the children, the Rare Disease Diagnosis and Treatment Center of Tianjin Children's Hospital (Tianjin University Children's Hospital) invited relevant experts in the field to develop recommendations for the management model of homogenized diagnosis and treatment of rare diseases in children from the aspects of information construction, hierarchical diagnosis and treatment, personnel training, scientific popularization, and multi-participation. The recommendations provide reference for the regional homogenization of clinical diagnosis and treatment management system for children with rare diseases.
2023 Vol. 25 (7): 663-671 [Abstract] ( 1135 ) [HTML 1KB] [PDF 3552KB] ( 1007 )
GUIDELINE INTERPRETATION
672 DONG Wen-Hui, DENG Bo-Yin, YUE Guang, Yasser Elsayed, JU Rong, WANG Jian-Hui, SHI Yuan
Interpretation of the clinical guideline for point-of-care ultrasonography in the neonatal intensive care unit in the United States
In December 2022, the American Academy of Pediatrics released a clinical guideline for point-of-care ultrasonography (POCUS) in the neonatal intensive care unit (NICU). The guideline outlined the development and current status of POCUS in the NICU, and summarized the key elements and implementation guidelines for successful implementation of POCUS in the NICU. This article provides an overview of the key points of the clinical guideline and analyzes the current status of POCUS in China, providing a reference for the implementation of POCUS in neonatal care in China.
2023 Vol. 25 (7): 672-677 [Abstract] ( 1277 ) [HTML 1KB] [PDF 697KB] ( 785 )
TOPIC OF EPIDEMIC PREVENTION AND CONTROL
678 Shenzhen Neonatal Data Network
Clinical characteristics of neonates infected with the Omicron variant of SARS-CoV-2: a multicenter cross-sectional survey
Objective To investigate the clinical characteristics of neonates infected with the Omicron variant of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Methods A cross-sectional survey was conducted on 542 hospitalized neonates with confirmed coronavirus disease 2019 (COVID-19) in 27 hospitals in Shenzhen from December 7, 2022, to January 12, 2023 (during the Omicron variant epidemic period). The neonates were divided into two groups: asymptomatic infection and symptomatic infection. The clinical characteristics, results of laboratory examination, chest X-ray findings, and outcome were compared between the two groups. Results Among the 542 neonates, there were 285 males and 257 females. Among them, 515 (95.0%) were full-term infants, and 27 (5.0%) were preterm infants. The asymptomatic infection group had 60 cases, and the symptomatic infection group had 482 cases. Among them, 336 cases (69.7%) were mild, 125 cases (25.9%) were moderate, 15 cases (3.1%) were severe, and 6 cases (1.2%) were critical. Fever was the most common symptom (434 cases, 90.0%), followed by cough and/or spitting (183 cases, 38.0%), nasal congestion and/or runny nose (131 cases, 27.2%), shortness of breath (36 cases, 7.5%), and feeding intolerance (30 cases, 6.2%). Among the 325 cases who underwent chest X-ray examination, 136 cases (41.8%) had patchy or consolidative shadows in the lungs, 2 cases (0.6%) had pneumothorax, 2 cases (0.6%) had decreased lung transparency, and 185 cases (57.0%) showed no abnormality. Among the 396 cases (73.1%) who received treatment, 341 cases (86.1%) received symptomatic treatment, 137 cases (34.6%) received antibiotic treatment, 4 cases (1.0%) received immunoglobulin treatment, and 23 cases (5.8%) received respiratory support treatment. All 542 neonates were discharged from the hospital after their clinical symptoms were relieved, and the median hospital stay was 5 days. The white blood cell count, neutrophil count, hemoglobin, and procalcitonin were lower in the symptomatic infection group than those in the asymptomatic infection group (P<0.05), while the platelet count and blood glucose levels were higher in the symptomatic infection group than those in the asymptomatic infection group (P<0.05). The proportions of neonates with decreased neutrophil count, increased platelet count, and decreased hemoglobin concentration were higher in the symptomatic infection group than those in the asymptomatic group (P<0.05). Conclusions Most neonates with COVID-19 caused by the Omicron variant of SARS-CoV-2 are mild, with fever as the predominant symptom. Symptomatic neonates with COVID-19 are often accompanied by decreased neutrophil count, increased platelet count, and decreased hemoglobin level. Symptomatic treatment is the main treatment, and the prognosis is good.
2023 Vol. 25 (7): 678-684 [Abstract] ( 1127 ) [HTML 1KB] [PDF 628KB] ( 672 )
685 WANG Fei, LIU Lu, XUE Ying, SHI Dan, AN Xin-Jiang
Multisystemic inflammatory syndrome in children after severe acute respiratory syndrome coronavirus 2 infection: a clinical analysis of four cases
Objective To investigate the clinical features and treatment strategies of multisystemic inflammatory syndrome in children (MIS-C) after severe acute respiratory syndrome coronavirus 2 infection. Methods A retrospective analysis was performed on the medical data of four children with MIS-C who were admitted to the Department of Cardiology, Xuzhou Children's Hospital, Xuzhou Medical University from January to February 2023. Results All four children had multiple organ involvements and elevated inflammatory markers, with a poor response to standard therapy for Kawasaki disease after admission. Two children were treated with intravenous immunoglobulin therapy pulse therapy twice, and all four children were treated with glucocorticoids. The children had a good prognosis after the treatment. Conclusions MIS-C often appears within 4-6 weeks or a longer time after severe acute respiratory syndrome coronavirus 2 infection, and anti-inflammatory therapy in addition to the standard treatment regimen for Kawasaki disease can help to achieve a favorable treatment outcome.
2023 Vol. 25 (7): 685-688 [Abstract] ( 954 ) [HTML 1KB] [PDF 459KB] ( 730 )
689 LI Yan, LU Si-Liang, MO Yan, JING Lian-Fang, YAO Li-Ping, TAN Wei, WEI Qiu-Fen
Alterations in the intestinal microbiota of preterm infants with neurodevelopmental impairments: a prospective cohort study
Objective To investigate the difference in intestinal microbiota between preterm infants with neurodevelopmental impairment (NDI) and those without NDI. Methods In this prospective cohort study, the preterm infants who were admitted to the neonatal intensive care unit of Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from September 1, 2019 to September 30, 2021 were enrolled as subjects. According to the assessment results of Gesell Developmental Scale at the corrected gestational age of 1.5-2 years, they were divided into two groups: normal (n=115) and NDI (n=100). Fecal samples were collected one day before discharge, one day before introducing solid food, and at the corrected gestational age of 1 year. High-throughput sequencing was used to compare the composition of intestinal microbiota between groups. Results Compared with the normal group, the NDI group had a significantly higher Shannon diversity index at the corrected gestational age of 1 year (P<0.05). The principal coordinate analysis showed a significant difference in the composition of intestinal microbiota between the two groups one day before introducing solid food and at the corrected gestational age of 1 year (P<0.05). Compared with the normal group, the NDI group had a significantly higher abundance of Bifidobacterium in the intestine at all three time points, a significantly higher abundance of Enterococcus one day before introducing solid food and at the corrected gestational age of 1 year, and a significantly lower abundance of Akkermansia one day before introducing solid food (P<0.05). Conclusions There are significant differences in the composition of intestinal microbiota between preterm infants with NDI and those without NDI. This study enriches the data on the characteristics of intestinal microbiota in preterm infants with NDI and provides reference for the microbiota therapy and intervention for NDI in preterm infants.
2023 Vol. 25 (7): 689-696 [Abstract] ( 509 ) [HTML 1KB] [PDF 2637KB] ( 482 )
CLINICAL RESEARCH
689 LI Yan, LU Si-Liang, MO Yan, JING Lian-Fang, YAO Li-Ping, TAN Wei, WEI Qiu-Fen
Alterations in the intestinal microbiota of preterm infants with neurodevelopmental impairments: a prospective cohort study Hot!
Objective To investigate the difference in intestinal microbiota between preterm infants with neurodevelopmental impairment (NDI) and those without NDI. Methods In this prospective cohort study, the preterm infants who were admitted to the neonatal intensive care unit of Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from September 1, 2019 to September 30, 2021 were enrolled as subjects. According to the assessment results of Gesell Developmental Scale at the corrected gestational age of 1.5-2 years, they were divided into two groups: normal (n=115) and NDI (n=100). Fecal samples were collected one day before discharge, one day before introducing solid food, and at the corrected gestational age of 1 year. High-throughput sequencing was used to compare the composition of intestinal microbiota between groups. Results Compared with the normal group, the NDI group had a significantly higher Shannon diversity index at the corrected gestational age of 1 year (P<0.05). The principal coordinate analysis showed a significant difference in the composition of intestinal microbiota between the two groups one day before introducing solid food and at the corrected gestational age of 1 year (P<0.05). Compared with the normal group, the NDI group had a significantly higher abundance of Bifidobacterium in the intestine at all three time points, a significantly higher abundance of Enterococcus one day before introducing solid food and at the corrected gestational age of 1 year, and a significantly lower abundance of Akkermansia one day before introducing solid food (P<0.05). Conclusions There are significant differences in the composition of intestinal microbiota between preterm infants with NDI and those without NDI. This study enriches the data on the characteristics of intestinal microbiota in preterm infants with NDI and provides reference for the microbiota therapy and intervention for NDI in preterm infants.
2023 Vol. 25 (7): 689-696 [Abstract] ( 1000 ) [HTML 1KB] [PDF 1311KB] ( 716 )
697 JIN Fang, CHEN Yu, LIU Yi-Xun, WU Su-Ying, FANG Chao-Ce, ZHANG Yong-Fang, ZHENG Lu, ZHANG Li-Fang, SONG Xiao-Dong, XIA Hong, CHEN Er-Ming, RAO Xiao-Qin, CHEN Guang-Quan, YI Qiong, HU Yan, JIANG Lang, LI Jing, PANG Qing-Wei, YOU Chong, CHENG Bi-Xia, TAN Zhang-Hua, TAN Ya-Juan, ZHANG Ding, YU Tie-Sheng, RAO Jian, LIANG Yi-Dan, XIA Shi-Wen
Risk factors for neonatal asphyxia and establishment of a nomogram model for predicting neonatal asphyxia in Hubei Enshi Tujia and Miao Autonomous Prefecture: a multicenter study
Objective To investigate the risk factors for neonatal asphyxia in Hubei Enshi Tujia and Miao Autonomous Prefecture and establish a nomogram model for predicting the risk of neonatal asphyxia. Methods A retrospective study was conducted with 613 cases of neonatal asphyxia treated in 20 cooperative hospitals in Enshi Tujia and Miao Autonomous Prefecture from January to December 2019 as the asphyxia group, and 988 randomly selected non-asphyxia neonates born and admitted to the neonatology department of these hospitals during the same period as the control group. Univariate and multivariate analyses were used to identify risk factors for neonatal asphyxia. R software (4.2.2) was used to establish a nomogram model. Receiver operator characteristic curve, calibration curve, and decision curve analysis were used to assess the discrimination, calibration, and clinical usefulness of the model for predicting the risk of neonatal asphyxia, respectively. Results Multivariate logistic regression analysis showed that minority (Tujia), male sex, premature birth, congenital malformations, abnormal fetal position, intrauterine distress, maternal occupation as a farmer, education level below high school, fewer than 9 prenatal check-ups, threatened abortion, abnormal umbilical cord, abnormal amniotic fluid, placenta previa, abruptio placentae, emergency caesarean section, and assisted delivery were independent risk factors for neonatal asphyxia (P<0.05). The area under the curve of the model for predicting the risk of neonatal asphyxia based on these risk factors was 0.748 (95%CI: 0.723-0.772). The calibration curve indicated high accuracy of the model for predicting the risk of neonatal asphyxia. The decision curve analysis showed that the model could provide a higher net benefit for neonates at risk of asphyxia. Conclusions The risk factors for neonatal asphyxia in Hubei Enshi Tujia and Miao Autonomous Prefecture are multifactorial, and the nomogram model based on these factors has good value in predicting the risk of neonatal asphyxia, which can help clinicians identify neonates at high risk of asphyxia early, and reduce the incidence of neonatal asphyxia.
2023 Vol. 25 (7): 697-704 [Abstract] ( 1033 ) [HTML 1KB] [PDF 802KB] ( 973 )
705 DONG Sha-Sha, CHE Ruo-Chen, ZHENG Bi-Xia, ZHANG Ai-Hua, WANG Chun-Li, BAI Mi, CHEN Ying
Value of serum fibroblast growth factor 23 in diagnosis of hypophosphatemic rickets in children
Objective To study the value of serum fibroblast growth factor 23 (FGF23) in the diagnosis of hypophosphatemic rickets in children. Methods A total of 28 children who were diagnosed with hypophosphatemic rickets in Children's Hospital of Nanjing Medical University from January 2016 to June 2021 were included as the rickets group. Forty healthy children, matched for sex and age, who attended the Department of Child Healthcare of the hospital were included as the healthy control group. The serum level of FGF23 was compared between the two groups, and the correlations of the serum FGF23 level with clinical characteristics and laboratory test results were analyzed. The value of serum FGF23 in the diagnosis of hypophosphatemic rickets was assessed. Results The rickets group had a significantly higher serum level of FGF23 than the healthy control group (P<0.05). In the rickets group, the serum FGF23 level was positively correlated with the serum alkaline phosphatase level (rs=0.38, P<0.05) and was negatively correlated with maximum renal tubular phosphorus uptake/glomerular filtration rate (rs=-0.64, P<0.05), while it was not correlated with age, height Z-score, sex, and parathyroid hormone (P>0.05). Serum FGF23 had a sensitivity of 0.821, a specificity of 0.925, an optimal cut-off value of 55.77 pg/mL, and an area under the curve of 0.874 in the diagnosis of hypophosphatemic rickets (P<0.05). Conclusions Serum FGF23 is of valuable in the diagnosis of hypophosphatemic rickets in children, which providing a theoretical basis for early diagnosis of this disease in clinical practice.
2023 Vol. 25 (7): 705-710 [Abstract] ( 774 ) [HTML 1KB] [PDF 735KB] ( 688 )
711 LIN Shuang, WU Dan-Dan, CHEN Shu-Jin, YAN Wu, DOU Li-Hua, LI Xiao-Nan
Physical growth and dietary characteristics of children with attention deficit hyperactivity disorder: a cross-sectional study
Objective To investigate the physical growth and dietary characteristics of children with attention deficit hyperactivity disorder (ADHD), and to analyze their relationship with core symptoms of ADHD. Methods A total of 268 children who were newly diagnosed with ADHD in Children's Hospital of Nanjing Medical University from June to December 2020 were included in the ADHD group, and 102 healthy children who underwent physical examination during the same period were selected as the control group. Physical evaluations and dietary surveys were conducted for both groups. ADHD diagnosis and scoring were performed according to the Diagnostic and Statistical Manual of Mental Disorders (5th edition). Factor analysis, Spearman correlation analysis, and mediation analysis were used to study the relationship between core symptoms of ADHD, dietary patterns, and physical growth. Results The rate of overweight/obesity in the ADHD group was significantly higher than that in the control group (35.8% vs 21.6%, P<0.05). Three dietary patterns were extracted from the food frequency questionnaire: vegetarian dietary pattern, traditional dietary pattern, and snack/fast food pattern. The factor score for the snack/fast food pattern in the ADHD group was higher than that in the control group (P<0.05). There was a significant positive correlation between ADHD symptom scores, snack/fast food pattern factor scores, and body fat percentage (P<0.05). The mediation analysis showed that the snack/fast food pattern played a partial mediating role in the relationship between ADHD symptom scores and body fat percentage, with a mediation proportion of 26.66%. Conclusions The rate of overweight/obesity in children with ADHD is higher than that in non-ADHD children. Core symptoms of ADHD are related to dietary patterns and physical growth, with the snack/fast food pattern playing a partial mediating role in the relationship between core symptoms of ADHD and physical growth.
2023 Vol. 25 (7): 711-717 [Abstract] ( 784 ) [HTML 1KB] [PDF 661KB] ( 524 )
718 ZHONG Shan, YANG Ming-Hua
Value of metagenomic next-generation sequencing in children with hematological malignancies complicated with infections
Objective To explore the value of metagenomic next-generation sequencing (mNGS) in the pathogen identification in children with hematological malignancies complicated with infections. Methods A retrospective analysis was conducted on clinical data and pathogenic test results of 43 children with hematological malignancies who underwent microbial culture and mNGS due to infections in the Third Xiangya Hospital of Central South University between June 2020 and July 2022. Differences in detection rates and characteristics of pathogenic microorganisms detected by mNGS and microbial culture were compared. Results A total of 54 specimens were examined, and the overall detection rate of pathogen by mNGS (80%, 43/54) was significantly higher than that by microbial culture (30%, 16/54) (P<0.001). The most commonly detected infection type by mNGS was viral infection, followed by fungal infection combined viral infection, while that by microbial culture was bacterial infection, followed by fungal infection. The detection rate of fungi by mNGS (33%, 18/54) was higher than that by microbial culture (6%, 3/54) (P<0.001). The detection rate of two or more pathogenic microorganisms by mNGS was higher at 48% compared to microbial culture at 9% (P<0.05). The detection rate of two or more types of pathogenic microorganisms by mNGS was also significantly higher at 33% compared to microbial culture at 2% (P<0.05). The most commonly detected bacteria and fungi by mNGS were Pseudomonas aeruginosa and Candida tropicalis, respectively, in peripheral blood, while Streptococcus pneumoniae and Pneumocystis jirovecii were most commonly detected in bronchoalveolar lavage fluid. Treatment adjustments based on mNGS results were beneficial for 35% (15/43) of the cases. Conclusions mNGS has a higher detection rate than microbial culture and has obvious advantages in diagnosing mixed and fungal infections, making it a useful supplementary diagnostic method to microbial culture.
2023 Vol. 25 (7): 718-725 [Abstract] ( 821 ) [HTML 1KB] [PDF 641KB] ( 729 )
726 ZHENG Kui, WU Fei, LOU Mei-Na, WANG Ying-Xue, LI Bo, HAO Jing-Xia, WANG Yong-Li, ZHANG Ying-Qian, QI Huan-Jun
Clinical and genetic characteristics of children with primary dilated cardiomyopathy
Objective To study the genetic characteristics, clinical characteristics, and prognosis of children with primary dilated cardiomyopathy (DCM). Methods A retrospective analysis was performed on the medical data of 44 children who were diagnosed with DCM in Hebei Children's Hospital from July 2018 to February 2023. According to the genetic testing results, they were divided into two groups: gene mutation-positive group (n=17) and gene mutation-negative group (n=27). The two groups were compared in terms of clinical data at initial diagnosis and follow-up data. Results Among the 44 children with DCM, there were 21 boys (48%) and 23 girls (52%). Respiratory symptoms including cough and shortness of breath were the most common symptom at initial diagnosis (34%, 15/44). The detection rate of gene mutations was 39% (17/44). There were no significant differences between the two groups in clinical characteristics, proportion of children with cardiac function grade Ⅲ or Ⅳ, brain natriuretic peptide levels, left ventricular ejection fraction, and left ventricular fractional shortening at initial diagnosis (P>0.05). The median follow-up time was 23 months, and 9 children (20%) died, including 8 children from the gene mutation-positive group, among whom 3 had TTN gene mutation, 2 had LMNA gene mutation, 2 had TAZ gene mutation, and 1 had ATAD3A gene mutation. The gene mutation-positive group had a significantly higher mortality rate than the gene mutation-negative group (P<0.05). Conclusions There is no correlation between the severity of DCM at initial diagnosis and gene mutations in children. However, children with gene mutations may have a poorer prognosis.
2023 Vol. 25 (7): 726-731 [Abstract] ( 1157 ) [HTML 1KB] [PDF 569KB] ( 765 )
732 HUANG Wei, LIU Cui-Hua, LI Ji-Tong, LIU Yu-Jie, LI Yu-Liu, TIAN Ming, CAO Guang-Hai, ZHANG Shu-Feng
COL4A5 genotypes and clinical characteristics of children with Alport syndrome
Objective To investigate the genotypes of the pathogenic gene COL4A5 and the characteristics of clinical phenotypes in children with Alport syndrome (AS). Methods A retrospective analysis was performed for the genetic testing results and clinical data of 19 AS children with COL4A5 gene mutations. Results Among the 19 children with AS caused by COL4A5 gene mutations, 1 (5%) carried a new mutation of the COL4A5 gene, i.e., c.3372A>G(p.P1124=) and presented with AS coexisting with IgA vasculitis nephritis; 3 children (16%) had large fragment deletion of the COL4A5 gene, among whom 2 children (case 7 had a new mutation site of loss51-53) had gross hematuria and albuminuria at the onset, and 1 child (case 13 had a new mutation site of loss3-53) only had microscopic hematuria, while the other 15 children (79%) had common clinical phenotypes of AS, among whom 7 carried new mutations of the COL4A5 gene. Among all 19 children, 3 children (16%) who carried COL4A5 gene mutations also had COL4A4 gene mutations, and 1 child (5%) had COL4A3 gene mutations. Among these children with double gene mutations, 2 had gross hematuria and proteinuria at the onset. Conclusions This study expands the genotype and phenotype spectrums of the pathogenic gene COL4A5 for AS. Children with large fragment deletion of the COL4A5 gene or double gene mutations of COL4A5 with COL4A3 or COL4A4 tend to have more serious clinical manifestations.
2023 Vol. 25 (7): 732-738 [Abstract] ( 896 ) [HTML 1KB] [PDF 1109KB] ( 695 )
739 YAO Jia-Qi, WAN Yu, ZHAO Yi-Dong, GUI Jing-Jing, MAO Wen-Jie, HUANG Zhi-Ying
Relationship between atherogenic index of plasma and childhood asthma
Objective To explore the relationship between atherogenic index of plasma (AIP) and childhood asthma. Methods This retrospective study included 86 children with asthma admitted to the Changzhou Second People's Hospital Affiliated to Nanjing Medical University from July 2020 to August 2022 as the asthma group and 149 healthy children undergoing physical examination during the same period as the control group. Metabolic parameters including total cholesterol, triglycerides, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, and blood glucose, as well as general information of the children such as height, weight, body mass index, presence of specific dermatitis, history of inhalant allergen hypersensitivity, family history of asthma, and feeding history, were collected. Multivariable logistic regression analysis was used to study the relationship between AIP, triglycerides, and high-density lipoprotein cholesterol and asthma. The value of AIP, triglycerides, and high-density lipoprotein cholesterol for predicting asthma was assessed using receiver operating characteristic (ROC) curve analysis. Results The AIP and triglyceride levels in the asthma group were significantly higher than those in the control group, while high-density lipoprotein cholesterol was significantly lower (P<0.05). However, there was no significant difference in total cholesterol and low-density lipoprotein cholesterol between the two groups (P>0.05). Before and after adjusting for height, weight, presence of specific dermatitis, history of inhalant allergen hypersensitivity, family history of asthma, feeding method, and blood glucose, multivariable logistic regression analysis showed that AIP, triglycerides, and high-density lipoprotein cholesterol were associated with asthma (P<0.05). ROC curve analysis showed that the optimal cutoff value for predicting asthma with AIP was -0.333, with a sensitivity of 80.2%, specificity of 55.0%, positive predictive value of 50.71%, and negative predictive value of 82.85%. The area under the curve (AUC) for AIP in predicting asthma was significantly higher than that for triglycerides (P=0.009), but there was no significant difference in AUC between AIP and high-density lipoprotein cholesterol (P=0.686). Conclusions AIP, triglycerides, and high-density lipoprotein cholesterol are all associated with asthma. AIP has a higher value for predicting asthma than triglycerides and comparable value to high-density lipoprotein cholesterol.
2023 Vol. 25 (7): 739-744 [Abstract] ( 867 ) [HTML 1KB] [PDF 628KB] ( 468 )
745 ZHOU Juan, XIAO Xiong, XIA Yu, YOU Jie-Yu, ZHAO Hong-Mei
Nutritional status and its influencing factors in children with newly diagnosed inflammatory bowel disease
Objective To investigate the nutritional status and its influencing factors in children with newly diagnosed inflammatory bowel disease (IBD). Methods A retrospective analysis was conducted on the clinical data of children who were diagnosed with IBD for the first time in Hunan Children's Hospital from January 2015 to December 2021. Diagnostic delay was defined as the time from the symptom onset to IBD diagnosis being in the upper quartile (P76-P100) of all IBD children in the study. Multivariate logistic regression analysis was used to explore the risk factors for emaciation and growth retardation. Results A total of 125 children with newly diagnosed IBD were included, with Crohn's disease being the main type (91.2%). The rates of emaciation and growth retardation were 42.4% (53 cases) and 7.2% (9 cases), respectively, and the rate of anemia was 77.6% (97 cases). Diagnostic delay was noted in 31 children (24.8%), with the time from the symptom onset to IBD diagnosis of 366 to 7 211 days. Multivariate logistic regression analysis showed that diagnostic delay was a risk factor for emaciation and growth retardation (OR=2.73 and OR=4.42, respectively; P<0.05) and that age was positively associated with emaciation (OR=1.30, P<0.05). Conclusions Children with newly diagnosed IBD have poor nutritional status, and the rates of anemia, emaciation, and growth retardation are high. Diagnostic delay is associated with malnutrition in children with IBD.
2023 Vol. 25 (7): 745-750 [Abstract] ( 732 ) [HTML 1KB] [PDF 549KB] ( 755 )
EXPERIMENTAL RESEARCH
751 YANG Dan, WANG Gang, YANG Li-Jun, DUAN Ren-Ze, CHEN Xian-Bing.
Effect of ligustrazine on hypoxic-ischemic encephalopathy in neonatal rats by regulating autophagy through the PINK1/Parkin pathway
Objective To study the effect of ligustrazine injection on mitophagy in neonatal rats with hypoxic-ischemic encephalopathy (HIE) and its molecular mechanism. Methods Neonatal Sprague-Dawley rats, aged 7 days, were randomly divided into a sham-operation group with 8 rats, a model group with 12 rats, and a ligustrazine group with 12 rats. The rats in the model group and the ligustrazine group were used to establish a neonatal rat model of HIE by ligation of the left common carotid artery followed by hypoxia treatment, and blood vessels were exposed without any other treatment for the rats in the sham-operation group. The rats in the ligustrazine group were intraperitoneally injected with ligustrazine (20 mg/kg) daily after hypoxia-ischemia, and those in the sham-operation group and the model group were intraperitoneally injected with an equal volume of normal saline daily. Samples were collected after 7 days of treatment. Hematoxylin and eosin staining and Nissl staining were used to observe the pathological changes of neurons in brain tissue; immunohistochemical staining was used to observe the positive expression of PINK1 and Parkin in the hippocampus and cortex; TUNEL staining was used to measure neuronal apoptosis; Western blotting was used to measure the expression levels of the mitophagy pathway proteins PINK1 and Parkin and the autophagy-related proteins Beclin-1, microtubule-associated protein 1 light chain 3 (LC3), and ubiquitin-binding protein (P62). Results Compared with the sham-operation group, the model group had a significant reduction in the number of neurons, an increase in intercellular space, loose arrangement, lipid vacuolization, and a reduction in Nissl bodies. The increased positive expression of PINK1 and Parkin, apoptosis rate of neurons, and protein expression levels of PINK1, Parkin, Beclin1 and LC3 (P<0.05) and the decreased protein expression level of P62 in the hippocampus were also observed in the model group (P<0.05). Compared with the model group, the ligustrazine group had a significant increase in the number of neurons with ordered arrangement and an increase in Nissl bodies, significant reductions in the positive expression of PINK1 and Parkin, the apoptosis rate of neurons, and the protein expression levels of PINK1, Parkin, Beclin1, and LC3 (P<0.05), and a significant increase in the protein expression level of P62 (P<0.05). Conclusions Ligustrazine can alleviate hypoxic-ischemic brain damage and inhibit neuronal apoptosis in neonatal rats to a certain extent, possibly by inhibiting PINK1/Parkin-mediated autophagy.
2023 Vol. 25 (7): 751-758 [Abstract] ( 887 ) [HTML 1KB] [PDF 1962KB] ( 668 )
REVIEW
759 LI Jia-Qi, WANG Hui-Jun
Research advances in pharmacotherapy for rare diseases in children
There are more than 7 000 rare diseases and approximately 475 million individuals with rare diseases globally, with children accounting for two-thirds of this population. Due to a relatively small patient population and limited financial resources allocated for drug research and development in pharmaceutical enterprises, there are still no drugs approved for the treatment of several thousands of these rare diseases. At present, there are no drugs for 95% of the patients with rare diseases, and consequently, the therapeutic drugs for rare diseases have been designated as orphan drugs. In order to guide pharmaceutical enterprises to strengthen the research and development of orphan drugs, various nations have enacted the acts for rare disease drugs, promoted and simplified the patent application process for orphan drugs, and provided scientific recommendations and guidance for the research and development of orphan drugs. Since there is a relatively high incidence rate of rare diseases in children, this article reviews the latest research on pharmacotherapy for children with rare diseases.
2023 Vol. 25 (7): 759-766 [Abstract] ( 924 ) [HTML 1KB] [PDF 785KB] ( 979 )
767 CUI Cheng, CHEN Fei-Long, LI Lu-Quan
Recent research on machine learning in the diagnosis and treatment of necrotizing enterocolitis in neonates
Necrotizing enterocolitis (NEC), with the main manifestations of bloody stool, abdominal distension, and vomiting, is one of the leading causes of death in neonates, and early identification and diagnosis are crucial for the prognosis of NEC. The emergence and development of machine learning has provided the potential for early, rapid, and accurate identification of this disease. This article summarizes the algorithms of machine learning recently used in NEC, analyzes the high-risk predictive factors revealed by these algorithms, evaluates the ability and characteristics of machine learning in the etiology, definition, and diagnosis of NEC, and discusses the challenges and prospects for the future application of machine learning in NEC.
2023 Vol. 25 (7): 767-773 [Abstract] ( 1176 ) [HTML 1KB] [PDF 874KB] ( 736 )
COLUMN ON DIAGNOSIS & TREATMENT IN MDT MODE
774 CAO Xin-Cheng, CHEN Yuan-Yuan, ZHANG Ke, ZHANG Xun-Jie, YANG Lin, LI Zhi-Hua
Neonatal systemic pseudohypoaldosteronism type I
An 18-day-old male infant was admitted to the hospital due to recurrent hyperkalemia for more than 10 days. The neonate had milk refusal and dyspnea. The blood gas analysis revealed recurrent hyperkalemia, hyponatremia and metabolic acidosis. Adrenocortical hormone replacement therapy was ineffective. Additional tests showed a significant increase in aldosterone levels. Family whole exome sequencing revealed that the infant had compound heterozygous in the SCNNIA gene, inherited from both parents. The infant was diagnosed with neonatal systemic pseudohypoaldosteronism type I. The infant's electrolyte levels were stabilized through treatment with sodium polystyrene sulfonate and sodium supplement. The infant was discharged upon clinical recovery. This study provides a focused description of differential diagnosis of salt-losing syndrome in infants and introduces the multidisciplinary management of neonatal systemic pseudohypoaldosteronism type I.
2023 Vol. 25 (7): 774-778 [Abstract] ( 978 ) [HTML 1KB] [PDF 674KB] ( 454 )
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2023 Vol. 25 (7): 779-779 [Abstract] ( 384 ) [HTML 1KB] [PDF 317KB] ( 362 )
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