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06 April 2024, Volume 39 Issue 4 Previous Issue   

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Expert consensus on screening and diagnosis and treatment of propionic academia Neonatal Screening Group of the Birth Defect Prevention and Control Professional Committee of the Chinese Preventive Medicine Association, Adolescent Health and Medical Professional Committee of the Chinese Medical Doctor Association, Genetic and Metabolic Disease Group of the Child Disease and Health Branch of the China Maternal and Child Health Association, et al 2024, 39(4): 241-248.  DOI: 10.19538/j.ek2024040601 Abstract ( )   Propionic acidemia is a rare disease. It is also a common organic acidemia.The clinical manifestations of the patients are nonspecific，including vomiting，lethargy，muscle weakness or convulsions during acute stage，and motor，language and intellectual retardation due to brain damage during the stable phase.Diagnosis of the disease is based on increased blood propionyl-carnitine，propionyl-carnitine to acetyl-carnitine ratio，urinary methylcitrate and mutation of PCCA or PCCB gene. Treatment of the disease is based on dietary therapy，L-carnitine and symptomatic management.Propionic acidemia can be detected by prenatal testing for the fetus of the family whose proband had definite diagnosis.In order to improve the strategy for the diagnosis and treatment of propionic acidemiaand achieve the Objective of early diagnosis，early treatment and better prognosis，the consensus was formulated by referring to relevant domestic and foreign literature and careful discussion by relevant domestic experts.

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Expert consensus on diagnosis and treatment of Talaromyces marneffei infection in children （Guangdong）  The Subspecialty of Respiration, the Society of Pediatrics, Guangdong Medical Association 2024, 39(4): 249-254.  DOI: 10.19538/j.ek2024040602 Abstract ( )   Talaromyces marneffei is an endemic opportunistic pathogenic fungus that is mainly prevalent in Guangdong and Guangxi regions in China.Different from Talaromyces marneffei infection in adults that are more common in patients with HIV infection，in children it is more common in immunocompromised patients without HIV infection.Due to the lack of specific clinical manifestations and insufficient understanding of the disease，it is easy to make misdiagnosis or missed diagnosis，leading to incre-ased mortality. In this article the related etiology，epidemiology，pathogenic mechanism，clinical manifestations，auxiliary exami-nation，diagnosis and treatment are described，in order to improve the doctors’ level in the diagnosis and treatment of this disease.

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Long-term nutrition-related problems in children with intestinal failure WANG Ying 2024, 39(4): 255-258.  DOI: 10.19538/j.ek2024040603 Abstract ( )   Intestinal failure（IF）is the reduction in intestinal mass or function below the minimal amount necessary for adequate digestion，absorption and appropriate growth in children. It leads to the inability to maintain nutritional，fluid，and electrolyte status while consuming a regular oral diet.These children will depend on enteral nutrition（EN）and parenteral nutrition（PN）support.We need pay more attention to the complications which occured during treatment，such as intestinal failure associated liver disease（IFALD），catheter-related bloodstream infections（CRBSI），small intestinal bacterial overgrowth（SIBO）and micronutrient deficiency.

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Nutritional management of cholestatic liver disease in children ZHAO Yan, WU Jie 2024, 39(4): 259-263.  DOI: 10.19538/j.ek2024040604 Abstract ( )   Cholestatic liver disease is an important cause of hospitalization in children with liver disease in China，which seriously affect the nutritional status of these children and their growth and development. Many children with cholestatic liver disease have nutritional problems，such as increased energy demand，decreased intake，poor digestion and absorption of nutrients and abnormal metabolism，which lead to disease progression，increased complications and mortality.In order to improve the nutritional status and prognosis，it is necessary to pay more attention to the nutritional management and to choose the proper way and composition of nutritional support therapy.

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Specific dietary therapy for pediatric inflammatory bowel disease ZHU Wen-xi, LIU Yun-man, HONG Li 2024, 39(4): 263-268.  DOI: 10.19538/j.ek2024040605 Abstract ( )   Inflammatory bowel disease（IBD），including Crohn's disease and ulcerative colitis，is a chronic disease characterized by intestinal inflammation.Specific dietary therapy has the ability to modify the microbiota and modulate immune function， which plays an important role in the treatment of IBD. This review would explore the role of specific dietary therapy in pediatric IBD，consisting of Crohn’s disease（CD）exclusion diet，CD treatment diet，specific carbohydrate diet and anti-inflammatory diet.

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Dietary management of metabolic dysfunction-associated fatty liver disease in children JIA Shuang-zhen, YE Xiao-lin 2024, 39(4): 268-272.  DOI: 10.19538/j.ek2024040606 Abstract ( )   Metabolic dysfunction-associated fatty liver disease（MAFLD）in children is a common chronic liver disease，and its incidence is increasing in recent years，which is closely related to obesity，metabolic syndrome and other factors.Dietary management plays an important role in the treatment and prevention of MAFLD in children.This paper summarizes the dietary management strategies of children's MAFLD and based on scientific evidence， this paper provides reference for clinicians，so as to improve the nutritional status of children with MAFLD and promote the remission of the disease and the recovery of liver function.

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Nutritional intervention for children with growth retardation WANG Yong-sheng, LI Xiao-qin 2024, 39(4): 273-277.  DOI: 10.19538/j.ek2024040607 Abstract ( )   Growth retardation can profoundly affect children's physical and mental health in short term and long term，as well as their social development. Addressing this issue through early and appropriate nutritional interventions plays a pivotal role. From the current state of children's growth and development This paper explorates the abjective and focal points of nutrition intervention in detail.

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Diet management of eosinophilic gastroenteritis in children ZHAO Hong-mei, ZHOU Juan 2024, 39(4): 277-280.  DOI: 10.19538/j.ek2024040608 Abstract ( )   Eosinophilic gastroenteritis （EGE） is a rare gastrointestinal disorder that is commonly seen in children under 5 years old. Diet management is one of the effective treatments for children with EGE， aiming to reduce exposure to food allergens. Diet management methods include amino acid-based elemental diets， experience-based exclusion diets， and targeted exclusion diets based on food allergy testing. This article discusses the advantages and disadvantages of the three diet therapies in detail， and emphasizes the importance of nutritionists in evaluating the nutritional intake of children with EGE， providing scientific evidence for dietary management of children with EGE.

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Management of refeeding syndrome in children with severe malnutrition GUO Ya-qiong, YU Jing, LI Xiao-qin 2024, 39(4): 280-284.  DOI: 10.19538/j.ek2024040609 Abstract ( )   The incidence of refeeding syndrome（RFS）in children with severe malnutrition cannot be ignored. Due to its multi-systemic involving of pathology and high mortality，RFS has gained increasing attention. More and more studies have focused on various aspects of pediatric refeeding syndrome in severe malnutrition. We summarize and analyze related researches of RFS，focusing on its management and further exploring its treatment progress.

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Application of digestive endoscopy technology in pediatric enteral nutrition therapy HAN Yan, LOU Jin-gan 2024, 39(4): 285-288.  DOI: 10.19538/j.ek2024040610 Abstract ( )   An appropriate enteral nutrition pathway is the basis of nutritional support. Digestive endoscopy technology is the most important method to establish an effective enteral nutrition pathway，which can help to reduce nutritional risk and improving nutritional status in children. However，due to the particularity of children，the endoscopic operation is difficult，and it is still necessary to further explore and improve the application of digestive endoscopy technology in pediatric enteral nutrition therapy.

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Application of different doses of simethicone in upper endoscopy for children: A randomized controlled study FANG Hao-ran, LI Zhong-yue, ZHANG Hui-hua, et al 2024, 39(4): 289-293.  DOI: 10.19538/j.ek2024040611 Abstract ( )   Objective    To compare the efficacy of different doses of simethicone on operation of upper endoscopy for children. Methods    Patients aged ≥2 years old who received upper endoscopy in Children’s Hospital of Chongqing Medical University from Mar.1 to Dec.31 of 2022 were included in this study. Study subjects were randomly assigned to 4 groups. Group A received 20 mL water before examination as control， Group B received 40 mg simethicone， Group C received 100 mg simethicone， and Group D received 200 mg simethicone. Visibility of upper endoscopy， procedure time， cases requiring endoscopic flushing， and cases of oxygen desaturation were compared and analyzed. Results    A total of 800 pediatric patients were included in this study， 200 patients in each group. There were no significant differences regarding gender composition and mean age in each group（χ2=0.981， H=2.239， P>0.05）. The proportion of adequate visibility in Group A， Group B， Group C and Group D was 38.5%、66%、80.5% and 78.5%， respectively. The proportion of adequate visibility in group A was significantly lower than that in the other groups（χ2AB=30.331，χ2AC=73.203，χ2AD=65.905， all P<0.05）. The proportion of adequate visibility in Group B was significantly lower than that in Group C and Group D（χ2BC=10.730， χ2BD=7.793， all P<0.05）. No significant differences were detected regarding proportion of adequate visibility between Group C and Group D（P>0.05）. Procedure time in group B ［（192.0±53.6）s］， group C ［（169.0±45.8）s］， and group D ［（169.8±46.6）s］ was significant shorter than that in group A ［（221.2±58.8）］（ZAB=-4.412，ZAC=-8.373，ZAD=-8.023，all P<0.05）. Procedure time in Group C and Group D was significant shorter than that in Group B（ZBC=-4.5， ZBD=-4.418， all P <0.05）. No significant differences were detected regarding procedure time between Group C and Group D（P>0.05）. Cases requiring endoscopic flushing in Group A （76 cases） were significantly higher than those in Group B （24 cases）， Group C（10 cases）， and Group D （11 cases）（χ2 AB=36.053， χ2AC=63.394， χ2AD=62.062， all P<0.05）. Cases requiring endoscopic flushing in Group B were significantly higher than those in Group C and Group D（χ2BC=6.076， χ2BD=5.292， all P<0.05）. No significant differences were detected regarding cases requiring endoscopic flushing between Group C and Group D（P>0.05）. There were no significant differences regarding cases of oxygen desaturation among the 4 groups（P>0.05）. Conclusion    Premedication of simethicone can significantly improve the visibility during upper endoscopy in children，and 100 mg simethicone is enough to achieve an ideal cleaning effect.

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Relationship between core symptoms and IQ in verbally fluent children with autism spectrum disorders JI Yan, JI Yue, XU Min, et al 2024, 39(4): 294-298.  DOI: 10.19538/j.ek2024040612 Abstract ( )   Objective    To explore the relationship between core symptoms and Intelligence Quotient（IQ）of 6～18 year old children with autism spectrum disorders（ASD）who are fluent in speech，and provide reference for the formulation of individualized intervention goals for them. Methods    The 6～18-year old verbally fluent children with ASD who met the diagnostic criteria of the Diagnostic and Statistical Manual of Mental Disorders Fifth Edition（DSM-V）were selected as the observation group（n=183）. At the same time，normal children（n=91）who underwent physical examination were selected as the control group.The core symptoms of ASD children were quantitatively scored using the Autism Diagnostic Observation Schedule（ADOS，module 3）. Wechsler Intelligence Scale for Children-Fourth Edition（Chinese version）（WISC-Ⅳ）was used to measure the children's IQ. Pearson correlation analysis was used to explore the relationship between core symptoms and IQ. Results    The average total IQ，verbal comprehension，perceptual reasoning，working memory and processing speed index of 6～18-year old verbally fluent children with ASD were lower than those of normal children，and the differences were statistically significant（all P<0.05）. About 61.7% of the children with ASD had an average IQ，while 27.9% were below the average. There was no gender difference between ASD and normal children in total IQ，language comprehension，working memory or processing speed（all P>0.05）. In terms of perceptual reasoning，ASD boys had higher scores than girls，and the difference was statistically significant（P<0.05），but there was no difference in normal children. In terms of ADOS communication scores，social interaction scores，communication + social interaction scores，and stereotyped scores，there was no significant difference either between ASD boys and girls，or among different age groups of ASD children（all P>0.05）.ADOS communication score，social interaction score and total communication + social interaction score were all negatively correlated with total IQ（r=-0.43，P<0.01；r=-0.31，P<0.01；r=-0.40，P<0.01），while the ADOS stereotype score was not significantly related to total IQ（r=-0.10，P=0.20）. Conclusion    Both the average total IQ and the scores of each functional area of the ASD children are lower than those of the normal children. There are large differences in total IQ among ASD individuals，and gender differences in perceptual reasoning ability. There is no significant difference in ADOS scores among different age groups or gender of children with ASD，thus ongoing support is needed for deficits in social communication and social interaction. There is a negative correlation between core symptoms and IQ in children with ASD.Consequently，interventions should focus on the core deficits of ASD in clinical practice.

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Gene analysis and early serum bile acid spectrum characteristics of 20 infants with intrahepatic cholestasis caused by Citrin deficiency SUN Wen-jun, YU Fei 2024, 39(4): 299-303.  DOI: 10.19538/j.ek2024040613 Abstract ( )   Objective    To investigate the gene phenotype and early serum bile acid spectrum characteristics of infants with intrahepatic cholestasis caused by Citrin deficiency. Methods    The clinical data of children with cholestasis admitted to the Department of Endocrine Genetic Metabolism in Children，Maternal and Child Health Hospital of Hubei Province from October 2019 to February 2022 were collected.Twenty children with infantile intrahepatic cholestasis caused by Citrin deficiency diagnosed by gene were taken as NICCD group，while 31 children were included as idiopathic neonatal cholestasis（INC） group，and five healthy infants were included as normal control（NC） group. The clinical characteristics and gene results of NICCD group were analyzed retrospectively. At the same time，15 components of bile acids in the three groups were detected by liquid chromatography tandem mass spectrometry（LC-MS/MS），and the bile acid spectrum results of NICCD group，INC group and NC group were compared and statistically analyzed. Results    A total of 8 mutation sites were found in the NICCD group，including 3 new sites：c 1043C>T（p.P348L）、c.1216dupG（p.A406 Gfs*13）and c.135G>C（p.L45F）.The results of bile acid spectrum showed that taurine conjugated chenodeoxycholic acid（TCDCA），glycine conjugated chenodeoxycholic acid（GCDCA）and taurocholic acid（TCA）were significantly increased in the NICCD group，and the differences were statistically significant（F=33.117，15.021，10.175，P<0.05）. Conclusion    The new mutation site expands the SLC25A13 gene spectrum，providing more genetic counseling for the disease.Bile acid spectrum analysis may be a potential method to identify cholestatic liver disease.TCA，TCDCA and GCDCA is helpful to identify NICCD.

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Study of changes of gastrointestinal microbiota and metabolome in children with infantile spasms after receiving KD treatment XIE Gan, WANG Wen-jian, YE Yuan-zhen, et al 2024, 39(4): 304-310.  DOI: 10.19538/j.ek2024040614 Abstract ( )   Objective    To study the changes of gastrointestinal microbiota（GM）and metabolome after receiving ketogenic diet（KD）and explore the microecological etiology of children with infantile spasms（IS）. Methods    We selected sixteen children with IS，who were diagnosed in the Department of Neurology，Shenzhen Children's Hospital between July 2015 and April 2020，aged 6 months to 3 years old.Healthy children（n=30）were enrolled as controls.We collected stool samples from patients at 2 time points，including before KD treatment and 1-week after KD treatment，and fecal samples from healthy children were also collected.The microbial composition and metabolite components were detected by metagenomic and metabolome methods to explore the changes of microbiota composition and metabolism after KD treatment. Results    Principal component analysis（PCA）suggests that the GM pattern of IS patients is significantly different from that of healthy children，but it tends to that of healthy children’s along the KD treatment.The dominant genus is Bacteroides，and the proportion in IS children（22.62%）is lower than that in healthy children（38.86%），and the relative abundance of Bacteroides dorei also reduced significantly in IS children［Healthy group：（3.24±7.14），pre-KD group：（0.19±0.40）；P<0.001］.On the other hand，the Escherichia genus was significantly enriched in patients（P<0.001），and the proportion of corresponding species，Escherichia coli，was also significant enriched in patients’GM（Health group：0.31%，pre-KD group：7.41%；P<0.01）. After KD treatment，the statistical analysis at the species level showed that a variety of Bacteroides increased，such as Bacteroides fragilis，Bacteroides thetaiotaomicron，B. vulgatus，and B.dorei，as well as Faecalibacterium prausnitzii，Akkermansia muciniphila. On the other hand，Bifidobacterium longum and Bifidobacterium breve decreased significantly after KD treatment，as well as E. coli.Based on KEGG analysis，we identified significant abundance differences of multiple metabolic pathways of GM among the three groups，especial for carbohydrate metabolism，gene transcription and translation，and nucleic acid metabolism.The analysis of metabolomics demonstrated that various metabolites，such as capric acid and curcumin，which was related to anti-epileptic effect，were significantly enriched after KD treatment.These differentially abundant metabolites are the key compound to the various KEGG pathway，including metabolic pathways（such as galactose metabolism，phenylalanine metabolism，taurine metabolism），ABC transporters，digestion and absorption of carbohydrates and proteins，etc. Conclusion    There are significant differences in the composition of GM between IS patients and healthy children.B.dorei significantly reduced in IS patients’GM，but E.coli significantly enriched.After KD treatment，Bacteroides，F.prausnitzii and other beneficial bacteria increased.Various neurological diseases related metabolites were detected.These findings provide a new insight to the mechanism about how ketogenic diet improves the clinical symptoms of IS patients.

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Effect of repetitive transcranial magnetic stimulation on children with autism spectrum disorder LI Xue 2024, 39(4): 311-315.  DOI: 10.19538/j.ek2024040615 Abstract ( )   Autism spectrum disorder （ASD） is a complex neurodevelopmental disorder characterized by persistent deficits in social communication and interaction， as well as repetitive and stereotyped behaviors， interests and activities. Repetitive transcranial magnetic stimulation （rTMS） is a non-invasive brain stimulation involving the stimulation of the cerebral cortex with a series of magnetic pulses to enhance or inhibit cortical excitability， thereby serving as a treatment for certain neurological and psychiatric disorders. This paper briefly reviews the evidence for the effects of repetitive transcranial magnetic stimulation on children with autism spectrum disorder， describes the selection of rTMS parameters and targets， the improvement of symptoms， and the occurrence of adverse events， and proposes the feasibility and potential of using rTMS to treat children with autism spectrum disorder.

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Four cases of CHARGE syndrome ZHANG Chao-ying, SUN Yun-xia, LIU Yu-mei, et al 2024, 39(4): 316-320.  DOI: 10.19538/j.ek2024040616 Abstract ( )   Clinical data of 4 patients with CHARGE syndrome who were treated in Guangdong Provincial People's Hospital from May 2018 to July 2020 were collected， and their clinical and genetic characteristics were analyzed. The results showed that all 4 patients had shortness of breath， feeding difficulties， growth retardation and heart malformation； 3 had laryngeal malacia; 3 had bronchial stenosis; 3 had lateral ventricular dilatation; 2 had sensorineural hearing loss; 2 had auricle deformity; 2 patients’ normal structure of the visual papilla disappeared; 1 also had cleft palate. The pathogenic heterozygous mutation of CHD7 gene was detected in all 4 cases， and no mutation was found in their parents. The follow-up showed that 2 cases had swallowing function and motor development improved after rehabilitation treatment； 2 cases died after discharge due to multiple deformities and severe illness. Therefore， it is believed that for children with congenital heart malformation combined with eye， nose and ear malformation， growth retardation and feeding difficulties， it is necessary to be alert to CHARGE syndrome and complete genetic testing in time in order to achieve early diagnosis and early intervention and improve prognosis.