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06 August 2024, Volume 39 Issue 8 Previous Issue   

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Interpretation of Probiotics for the Management of Pediatric Gastrointestinal Disorders：Position Paper of ESPGHAN LYU Yao, ZHEN Chang-jun, CHEN Jie 2024, 39(8): 561-566.  DOI: 10.19538/j.ek2024080601 Abstract ( )   The gut microbiome plays a critical role in human health，and probiotics are one of the important and effective interventions targeting the gut microbiome. In recent years，the European Society for Paediatric Gastroenterology，Hepatology and Nutrition（ESPGHAN） Working Group published several clinical guidelines on the use of probiotics for preventing or treating gastrointestinal disorders in children. The 2022 edition of the ESPGHAN Position Paper on Probiotics for the Management of Pediatric Gastrointestinal Disorders updates and complements the indications contained in the earlier guidelines，providing the most comprehensive recommendations for the use of probiotics in pediatric gastrointestinal disorders. On the basis of the interpretation of this position paper，this article takes the situationin China into consideration，with a view to guiding pediatricians in their clinical decision-making.

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Status and challenges of pulmonary rehabilitation in children ZHANG Hai-lin, YU Peng-ming 2024, 39(8): 567-571.  DOI: 10.19538/j.ek2024080602 Abstract ( )   Children's pulmonary rehabilitation can help alleviate the symptoms of dyspnea，fatigue and anxiety in children with acute and chronic respiratory diseases，and improve lung function，exercise ability and quality of life. Children's pulmonary rehabilitation is also facing greater challenges due to thechildren’s different anatomical and physiological characteristics of the respiratory system from adults. The evaluation and intervention plan should be selected individually according to the indication，age and level of cooperation of the children. In this paper，the concept evolution of respiratory rehabilitation，the content of pulmonary rehabilitation，the anatomical and physiological characteristics of children，the goals and indications of children's pulmonary rehabilitation，and the characteristics of children's pulmonary rehabilitation are summarized,in order toprovidereferences for performingpediatricpulmonary rehabilitation in clinical practice.

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Anatomical and physiological characteristics hidden in the pulmonary rehabilitation in children WANG Jia-xi, ZHAO Hong-mei 2024, 39(8): 572-575.  DOI: 10.19538/j.ek2024080603 Abstract ( )   Pulmonary rehabilitation is an important comp-onent of the treatment for adult respiratory diseases. When pulmonary rehabilitation is used in children，considerations should be given to the anatomical and physiological characteristics of children's respiratory system that are different from adults，based on which appropriate rehabilitation assessment and therapies for children should be used. Children，especially infants and young children，whose respiratory system is not yet fully developed，have significant differences from adults in anatomy and physiology. In diseases and even in normal conditions，they are more prone to airway obstruction and difficulty in breathing. This article mainly elaborates on the anatomical and physiological characteristics of children's respiratory system，as well as some aspects that need payingattention toinchildren's pulmonary rehabilitationtreatment, aiming to provide certain references forchildren's pulmonary rehabilitationin clinical practice.

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Assessment techniques for pediatric pulmonary rehabilitation JIA Xiao-hui, HU Shi-dong 2024, 39(8): 575-579.  DOI: 10.19538/j.ek2024080604 Abstract ( )   Comprehensive evaluation is fundamental to pulmonary rehabilitation. Since children are in a stage of growth and development，andtheir pulmonary structures and functions are continually changing，it is essential to incorporate personalized assessments throughout the pulmonary rehabilitation program. While standards for adult pulmonary rehabilitation assessment in China are well-established，research on pediatric assessments is limited. This paper reviews the application of assessment techniques in pediatric pulmonary rehabilitation，including evaluations of exercise capacity，lung function，respiratory muscle function，and respiratory symptoms.

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Treatment measures and techniques for pulmonary rehab-ilitation in children FU Yun-xue, CAI Xiao-tang, HUANG Min 2024, 39(8): 579-582.  DOI: 10.19538/j.ek2024080605 Abstract ( )   Pulmonary rehabilitation is an individualized，multidisciplinary comprehensive intervention measure. Through assessment，planning，prescription formulation，health educatioandself-management，pulmonary rehabilitation provides diagnosis and treatment for patients with respiratory dysfunction，aiming to improve lung function，enhance exercise capacity，increase participation in activities，and stabilize or reverse symptoms. The role of pulmonary rehabilitation in the diagnosis and treatment of pulmonary conditions in adults has gradually been recognized，while research on similar conditions in children is still in its infancy. Additionally，there are significant differences in the respiratory systemsbetweenchildren and adults，and pediatric pulmonary rehabilitation treatment techniques possesses unique characteristics of their own. This article summarizes the characteristics of pediatric pulmonary rehabilitation treatment techniques based on domestic and foreign research progress，aiming to promote the advancement of pediatric pulmonary rehabilitation techniques.

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Concept of comprehensive management：Pediatric pulmonary rehabilitation from hospitalization to home care ZHANG Chun-yan, JIN Hao-yue, LIU Lu 2024, 39(8): 583-586.  DOI: 10.19538/j.ek2024080606 Abstract ( )   Respiratory diseases are common and frequently occurring illnesses in China，with children being particularly susceptible due to the ongoing development of their respiratory systems. Consequently，rehabilitation treatment from the acute phase to the phase of residual effects is particularly crucial. Pulmonary rehabilitation is one of the core aspects of respiratory system management and can improve long-term prognosis and enhance the quality of life of affected children. The physiological differences between children and adults necessitate distinct pulmonary rehabilitation protocols for children. This article summarizes pediatric respiratory rehabilitation from acute hospitalization treatment and intensive care unit treatment to home and community treatment，refining the concept of comprehensive management throughout the entire process of pediatric respiratory rehabilitation.

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Pulmonary rehabilitation in children with asthma YIN Ju, XU Bao-ping 2024, 39(8): 586-589.  DOI: 10.19538/j.ek2024080607 Abstract ( )   Bronchial asthma is a common chronic respiratory disease in children. Respiratory rehabilitation is an important part of non-pharmacological intervention for asthma. On the basis of comprehensive assessment of asthma children，personalized respiratory rehabilitation programs are developed and proper measures are taken，which can improve as thma symtoms and quality of life and relieveanxiety and depression.This article elaborates pulmonary rehabilitation in asthma children, introducing pulmonary rehabilitation assessment,pulmonary rehabilitation measures，nutrition management，psychological management，education and self-management，which is aimed to increase pediatricians’recognition of pulmonary rehabilitation so as to manageasthma in children more comprehensively.

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Analysis of the situation and development of Department of Children's Rehabilitation：Based on big datareport from a tertiary A hospital LUO Hua-yu, HUANG Qin-rong, XIAO Nong 2024, 39(8): 590-594.  DOI: 10.19538/j.ek2024080608 Abstract ( )   To investigate the trend and characteristics of disease information of hospitalized children in the Department of Rehabilitation， Children's Hospital of Chongqing Medical University， in the recent 9 years. Methods    The case data of 8171 hospitalized children admitted to the department from Jan. 1，2014 to Dec.31，2022 were retrospectively analyzed，and the information of gender，age，native place，admission condition，length of hospital stay and main diagnosis were statistically analyzed. Results    In the recent 9 years，the number of inpatients in the department showed an increasing trend，the ratio of male to female was 1.60，and most of them were from 1 month to 6 years old，of whom59.71%were not local. Among the children whose first treatment department was the Department of Rehabilitation，the number and the ratio of patients whose admission condition was difficult or severe showed an increasing trend（P< 0.001）. The total average length of hospital stay was 31.90±19.29 days， which declined（P< 0.001）.A total of 681 diseases were involved，and among the top 3 diseases，the number of cases of developmental delay（24.72%） showed an increasing trend，while the ratio had no significant change； the number and ratio of cerebral palsy（20.57%） showed a decreasing trend，and the number and ratio of traumatic brain injury（9.07%） showed an increasing trend（P< 0.05）. Conclusion    Many kinds of diseases are involved and the spectrum of diseases has changed in the Department of Rehabilitation during the recent9 years.The children with developmental delay，cerebral palsy，traumatic brain injury and other functional disorders are the main service subjects，and the rehabilitationdepartment of tertiary hospitals should focus on managing difficult and severe diseases.

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Value of serum AMH and INHB in the diagnosis of central precocious puberty and early and fast puberty girls YANG Yu, ZHANG Hai-meng, HUANG Hui, et al 2024, 39(8): 595-602.  DOI: 10.19538/j.ek2024080609 Abstract ( )   Objective    To investigate the role of serum anti-mullerian hormone（AMH） and inhibin-B（INHB） in （central precocious puberty，CPP） and rapidly -progressive puberty（early and fast puberty，EFP）. Methods    A total of 423 healthy girls with central precocious puberty，early and fast puberty，premature thelarche or being undeveloped who were treated in the Department of Endocrinology and Genetics and Metabolism of Jiangxi Children's Hospital from October 2020 to December 2022 were retrospectively collected. Clinical data, including age，height，weight，sexual development，levels of sex hormones，AMH，and INHB，and uterine and ovarian volume, were collected. The data of CPP group and non-CPP group（PT group and healthy group） were compared，and the diagnostic value of AMH and INHB in predicting CPP girls was determined by receiver operating characteristic curve（ROC） method. The data of EFP group，CPP group and healthy group were compared using ROC method to determine whether AMH and INHB could be used for early warning of EFP girls，and Spearman correlation analysis was used to analyze the correlation among the indexes. Results    The CPP group had higher serum AMH and INHB levels than the PT group，while the EFP group had higher serum INHB levels than the PT group. The area under the ROC curve for INHB in the diagnosis of CPP was 0.815（P<0.001），with sensitivity and specificity being 83.0% and 62.7%，respectively，while the area under the ROC curve for AMH in the diagnosis of CPP was 0.576（P=0.019）. AMH was negatively correlated with levels of FSH，LH peak，and FSH peak. The area under the ROC curve for early warning EFP by INHB was 0.896（P<0.001），with sensitivity and specificity being 90.7% and 77.6%，respectively. The area under the ROC curve of volume of uterus for early warning EFP was 0.944（P<0.001），with sensitivity and specificity being 81.4% and 92.3%，respectively. The area under the ROC curve of INHB combined with UV for early warning EFP was 0.964（P<0.001），with corresponding sensitivity and specificity being 93.8% and 87.4%，respectively. In EFP，INHB was positively correlated with UV，basal LH，basal FSH，and basal LH/basal FSH levels. Conclusion    This study confirms the diagnostic value of INHB for CPP girls. This study indicates that AMH levels can be used as a potential indicator to distinguish between CPP and PT. The combination of INHB level with UV detection is significant for early warning EFP girls in clinical practice.

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Clinical study of copy number variation in the etiological diagnosis of fetal congenital heart disease ZHANG Xiao-meng, YE Yu-jiao, WANG Xue-yan, et al 2024, 39(8): 603-606.  DOI: 10.19538/j.ek2024080610 Abstract ( )   Objective    To study the clinical value of copy number variation（CNVs） in the etiological diagnosis of fetal congenital heart disease（CHD） and to supplement the potential causes of fetal CHD. Methods    A retrospective analysis was used in this study. A total of 3386 patients who underwent amniotic fluid puncture examination in Sichuan Maternal and Child Health Care Hospital from January 2020 to August 2022 were collected and divided into control group（2689 cases） and experimental group（697 cases）. The experimental group was further divided into 3 subgroups，namely， simple CHD，complex CHD and CHDwith extracardiac malformations. The difference in detection rate of CNVs pathogenicity was analyzed. Results    In the experimental group，a total of 53 cases of CNVs were detected，and 34 cases of pathogenic CNVs were detected，9 cases were CNVs of unknown clinical significance（VOUS），and 8 cases were potentially pathogenic，among which NF1，HNF1B and MAP3K20 might be related to the occurrence of fetal CHD.Conclusion    The detection rate of CNVs and chromosome karyotype abnormality of CHD in fetuses is significantly higher than that in normal fetuses. Chromosome microarray analysis can be used as a supplement to traditional chromosome karyotype analysis. Some CNVs（VOUS） phenotypes of unknown clinical significance remain to be further verified.

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Association between adenotonsillectomy and allergic rhinitis in children： A longitudinal database analysis LIANG Jie-qiong, WANG Rui-kun, LU Ying-xia, et al 2024, 39(8): 607-612.  DOI: 10.19538/j.ek2024080611 Abstract ( )   Objective    This study aimed to explore the impact of obstructive sleep apnea（OSA） on Allergic rhinitis（AR） in children by analyzing the changes in AR treatment after adenotonsillectomy（AT）. Methods    The patients with AR who underwent AT from 2015 to 2018 were recruited as surgical group. According to the time of outpatient and emergency visits，age and gender，propensity score matching（PSM） was used to match the children at1：2 as the control group. The number of visits，medical costs and medication prescriptions were compared respectively between the two groups one year before and one year after surgery. Primary outcomes included number of visits，total cost of visits，total cost of medications，total cost of AR medicationsand itschange . Results    This study included 205 patients in the surgical group（AT） and 508 patients in the control group. There was no statistically significant difference in the number of visits between the surgical group and the control group in the first year/pre-operation（P=0. 22）. The total cost，cost of medications，cost of AR medications of surgical group were higher than those of the control group（P<0. 001，0. 001，and 0. 002，respectively）. The number of visits in the surgical group decreased by 28. 3% one year after AT（95% CI： 25. 2% ～31. 7%，P<0. 001）. The total medical expenses，total drug expenses，and AR drug expenses of the surgical group decreased one year after AT: total medical expenses（37.5% ，95% CI： 37. 3% ～37. 6%，P<0. 001），total drug expenses（39.1% ，95% CI： 38.8% ～39.3%，P<0. 001），and AR drug expenses（39.5%，95% CI： 39.1% ～39.8%，P<0. 001）. Conclusion    AT can reduce the number of hospital visits and the cost of treatment and medication. Monitoring and treating adenoid and tonsil hypertrophy and OSA may help to optimizetreatment strategies for AR control.

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Study on the diagnosis and treatment of the first case of gonadal dysgenesis caused by 17p13.3 Microdeletion syndrome without PAFAH1B1 gene deficiency XUE Mei, LI Min, ZHANG Xiao-qian, et al 2024, 39(8): 613-619.  DOI: 10.19538/j.ek2024080612 Abstract ( )   Objective    To report a case of 17p13.3 microdeletion syndrome and summarize the clinical phenotype of 17p13.3 microdeletion syndrome without PAFAH1B1 gene deletion. Methods    This paper reports a patient who was first diagnosed as growth hormone deficiency in February 2014 and diagnosed as gonadal dysplasia with 17p13.3 microdeletion syndrome in July 2023 in the Department of Pediatrics of China-Japan Friendship Hospital. The clinical characteristics，diagnosis and treatment of 17p13.3 microdeletion syndrome without PAFAH1B1 gene deletion were summarized through literature review. Results    The patient is a 14-year-old girl who underwent ductus arteriosus closure surgery at the age of 4 due to patent ductus arteriosus. At 5 years and 5 months old，she was initially diagnosed with growth hormone deficiency due to growth retardation. Subsequently，she underwent 9 years of growth hormone therapy with satisfactory height gain. The patient exhibited delayed intellectual and motor development，and showed no secondary sexual characteristics at 14 years old. Hormone testing and ultrasound examination of the uterus and ovaries revealed gonadal dysgenesis，prompting the initiation of hormone replacement therapy. The patient displayed facial anomalies （slender head，broad forehead，high hairline，hypertelorism，low bridge of nose，broad tip of nose，low-set ears，micrognathia），short and curved fifth finger，and wide nipple spacing. Whole exome sequencing combined with copy number variation analysis (WES+CNVs) identified a heterozygous deletion of 2.24 MB in the chromosome 17p13.3 region，without PAFAH1B1 gene deletion，indicating haploinsufficiency of the YWHAE gene. To date，a total of 31 cases of 17p13.3 microdeletion syndrome with YWHAE gene defects have been reported worldwide，with this patient being the first case discovered with gonadal dysgenesis. Conclusion    For children with short stature and abnormal phenotypes，genetic disorders such as 17p13.3 microdeletion syndrome should be considered，and genetic testing should be performed to confirm the diagnosis. This disease not only leads to growth hormone deficiency，growth retardation，and facial abnormalities，but also can cause gonadal dysgenesis. Monitoring and precise treatment are necessary to improve the quality of life for affected children.

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A study on the development and evaluation of a risk prediction model for childhood tic disorders LIANG Xiang-yu, WU Zhen-qi, WANG Zi, et al 2024, 39(8): 620-625.  DOI: 10.19538/j.ek2024080613 Abstract ( )   Objective    To establish a risk prediction model for tic disorder（TD） in children in order to provide a basis for clinical diagnosis and treatment. Methods    Initial screening of common risk factors for TD based on literature search and data mining was performed. Select 353 children aged 6-16 from the outpatient department of Liaoning University of Traditional Chinese Medicine Affiliated Hospital from December 2022 to July 2023，and divide them into two groups based on whether they had TD for risk factor investigation. Based on the findings，10 machine learning algorithms were used to build and compare TD occurrence risk prediction models：Decision Tree（DT），Linear Support Vector Machine（Linear SVC），Random Forest（RF），Linear Discriminant Analysis（LDA），Gradient Boosting，Bernoulli NB，Stochastic Gradient Descent（SGD），Ada Boost，XG Boost and Logical Regression（LR）. Results    There were statistically significant differences in risk factors of TD children compared to non-TD children（P<0.05），including gender, emotional state，degree of learning difficulty，friendship，dietary type，preference for food habits，daily time spent watching electronic products，sleeping situation，recurrent respiratory infections，allergic diseases，history of febrile convulsions，brain diseases or traumatic brain injury，mother's age at pregnancy（≥35），adverse life history during pregnancy，intrauterine development disorders，family harmony，education and upbringing methods, and family history of mental illness. The optimal TD risk prediction model was the SGD model，with accuracy of 0.87，area under curve（AUC） of 0.918，sensitivity of 0.814，and specificity of 0.886. The top five risk factors contributing to the model were：educational methods，gender，emotional status，family history of mental illness and daily time spent watching electronic products. Conclusion    The risk prediction model based on the SGD algorithm in this study is an optimal fitting prediction model，which has some predictive value and provides a basis for clinical diagnosis and treatment.

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Advances in the diagnosis and treatment of metabolic bone disease of premature ZHENG Quan, SHAO Jie 2024, 39(8): 626-630.  DOI: 10.19538/j.ek2024080614 Abstract ( )   Metabolic bone disease of premature（MBDP） is still one of the most challenging neonatal diseases. Premature infants are at high-risk of calcium and phosphorus metabolism disorders，as well as bone mineral content decreases，which is seriously endangering the bone health of very low birth weight premature infants or extremely low birth weight premature infants. The diagnosis of MBDP mainly depends on laboratory examination，X-ray imaging and ultrasonography. Prevention is the main treatment， and supplementation of calcium，phosphorus，and is given in addition to dealing with complications of premature infants. Early detection and treatment are advocated in order to reduce the occurrence of MBDP and improve the short-tern and long-tern proghosis.

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Diagnostic application of nasal nitric oxide detection in primary ciliary dyskinesia in children WANG Xia, LIU Fang-jun, LI Ying, et al 2024, 39(8): 631-635.  DOI: 10.19538/j.ek2024080615 Abstract ( )   Primary ciliary dyskinesia is a group of genetic heterogeneous diseases originating from the airway. It has various clinical manifestations with complex diagnostic methods，and there is no recognized gold standard for diagnosis at present. Compared with other examination methods，the detection of nasal nitric oxide is simple and non-invasive，and the price is relatively low. It is used more and more in the screening of primary ciliary dyskinesia in children. This paper mainly discusses the application of nasal nitric oxide detection in the diagnosis of primary ciliary dyskinesia in children.

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Report on one case of 9q21.13 microdeletion syndrome with eyelid myoclonicepilepsy CHEN Xi, XUJia-lu, SHEN Xiao-yan, et al 2024, 39(8): 636-639.  DOI: 10.19538/j.ek2024080616 Abstract ( )   The clinical data of a case of 9q21.13 microdeletion syndrome with eyelid myoclonic epilepsy admitted to the Department of Pediatric Rehabilitation，Children's Hospital,in September 2023 were retrospectively analyzed，and relevant literature was searched for review. The child，male，2 years old，was admitted to the hospital because he was found to be developmentally backward for nearly 20 months，and had intermittent convulsions for more than 3 months.The patient responded poorly to symptomatic treatment. The prominent symptoms of eyelid myoclonic epilepsy are rhythmic myoclonic jerks localized to the eyelids bilaterally，often accompanied by upward gaze of the eyes and backward tilt of the head，the presence of synechiae sensitivity and photosensitivity，and characteristic electroencephalographic changes. The initial clinical symptoms of this disease are often not obvious，and it is easy to be missed or misdiagnosed as facial muscle spasm or tic disorders，which can be diagnosed and treated at an early stage with the help of video electroencephalography. If diagnosed early，children respond well to medication and their cognitive function is not significantly impaired.