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06 October 2019, Volume 34 Issue 10 Previous Issue    Next Issue

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Expert consensus on integrated traditional Chinese and western medicine in the diagnosis and treatment of viral pneumonia in children（2019） 2019, 34(10): 801-807.  DOI: 10.19538/j.ek2019100601 Abstract ( )

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Expert consensus on immunization in children with special health state（ⅩⅩⅤ） ——cytomegalovirus infection in infants and immunization 2019, 34(10): 808-809.  DOI: 10.19538/j.ek2019100602 Abstract ( )

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Scientific assessment of physical growth and development in children LI Hai-qi*，MAO Meng 2019, 34(10): 810-814.  DOI: 10.19538/j.ek2019100603 Abstract ( )   The weight development can be used to indicate children’s nutritional status. But the assessment of stature development in children  is more complicated， which involves genetics，endocrine，nutrition  and bone metabolism. Parents should regularly follow up on the growth and development of children. At the same time，the growth data of children should be kept by parents. Pediatricians can obtain important information from the child’s development history to help assessment and diagnosis. Before dealing with this thorny problems of social and medical confusion，primary care pediatricians（PCP） should learn the knowledge of height growth during childhood，including the normal range and rules of height growth. Meanwhile，PCP need to understand the factors affecting the height growth in order to make proper management.

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Short stature and standardized use of growth hormone LI Hui 2019, 34(10): 815-818.  DOI: 10.19538/j.ek2019100604 Abstract ( )   Short stature and inadequate growth have become the most common reasons for   pediatric endocrinology and child health care. The biggest challenge is how to choose the appropriate methods to distinguish normal variation from abnormal growth，to identify the cause of short stature and choose the right intervention. It is the fundamental measure to ensure the safety to master the indications and standardized use of growth hormone therapy. The growth promoting therapy of rhGH should be limited in healthy short stature children.

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Nutritional assessment for 0-6-month old infant HONG Li 2019, 34(10): 818-822.  DOI: 10.19538/j.ek2019100605 Abstract ( )   Accurate nutritional assessment is the premise to get nutritional diagnosis，nutritional treatment，and optimal clinical outcomes. Traditional nutritional assessment "ABCDE" approach includes anthropometry，biochemistry，clinical assessment，dietary assessment，and environment and family information，which need to be comprehensively evaluated by the pediatricians or clinical dietitians with clinical experience. For 0-6-month old infants，nutritional assessment should be made based on "ABCDE" approach，focusing on the individual longitudinal growth curve change according to the WHO growth charts. If possible，body composition measurements may provide a more accurate evaluation.

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Growth assessment：Clinical implication of weight and stature measurement HU Yan 2019, 34(10): 823-825.  DOI: 10.19538/j.ek2019100606 Abstract ( )   Anthropometry and growth assessment are useful for not only growth monitoring but also differential diagnosis of diseases in clinic. They can provide information about influencing factors of physical growth，and may give insight into the basic mechanisms underlying the growth disturbance and thus the pathogenesis of the disease. The core elements of anthropometry are weight and height. By taking accurate physical measurements，pediatrician can learn about the growth，body proportion，and disturbance of the developmental process in quantitative terms. However，pure number of measurements are meaningless. They are valuable only in relation to other parameters and in comparison with normal values.

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Recognition of birth weight and its research development LYU Ying，SHAO Jie 2019, 34(10): 825-829.  DOI: 10.19538/j.ek2019100607 Abstract ( )   Birth weight is an important index for assessing intrauterine nutritional environment and outcome of birth. There are more than 1 000 000 neonates born with low birth weight in China every year. Furthermore，the rate of macrosomia is increasing. A lot of researches on birth weight have found that low birth weight or macrosomia is not only associated with newborn or infant mortality and morbidity，but also related to poorer physical growth，neurodevelopment，and increasing risk of chronic metabolic and cardiovascular diseases in adulthood. In this article，we reviewed the latest studies of epidemiological characteristics and pathogenesis of low birth weight and macrosomia，as well as its effects and mechanisms on neurocognitive development，metabolic disease and cardiovascular disease. It may be beneficial to the health and development of lifetime to have a proper recognition of birth weight，prevent the risk factors associated with inappropriate birth weight and monitor and optimize growth and development after birth.

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Common growth and development problems of premature or low birth weight infants and the management SHEN Li-xiao 2019, 34(10): 830-833.  DOI: 10.19538/j.ek2019100608 Abstract ( )   In recent years，with the rate of rescue and survival rate of premature/low birth weight infants greatly improved，the quality of life of premature/low birth weight infants becomes more and more important. Premature/low birth weight infants are prone to multiple problems of growth and development due to their immature organs and systems，which seriously affects their quality of life. This review will elaborate the research progress on common problems of growth and development and the treatment methods in premature/low birth weight infants.

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Premature and low birth weight infants: Postnatal visual health care TONG Mei-ling 2019, 34(10): 833-837.  DOI: 10.19538/j.ek2019100609 Abstract ( )   Premature and low birth weight children are susceptible to many unfavorable factors due to the immaturity of intrauterine development. Compared with term infants，they are inclined to suffer from refractive error，amblyopia，congenital eye disease，etc.，which affect vision development and even cause visual impairment. Therefore，administering eyesight care after birth for premature and low birth weight infants allows the early detection of disorders which can be given timely correction，maximizes the protection range and facilitates vision development. The quality of life is achieved with visual function improved. After-birth vision care is setted at hospital and family levels，which includes regular visits to the hospital for eye disease screening and vision monitoring，as well as family eye care from sleeping，diet，environment and eye-watching behavior and habits perspectives.

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Human milk composition and children’s growth and development SHA Li-jun，LI Xiao-nan 2019, 34(10): 838-841.  DOI: 10.19538/j.ek2019100610 Abstract ( )   Breastfeeding not only meets the growth needs of infants，promotes the development and maturation of their physiological functions，but also is related to the health of adults. The abundant nutrients and many active substances in human milk are the basis of protection. This article clarifies the secretory characteristics of human milk components and their role in the growth and development of infants，in order to emphasize the importance of promoting breastfeeding for human health.

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Review and prospect of rehabilitation medicine in children in China HUANG Yan-xia，CHEN Yan-ni，XIAO Nong 2019, 34(10): 842-844.  DOI: 10.19538/j.ek2019100611 Abstract ( )

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Investigation  of vascular endothelial function in active  polyarticular juvenile idiopathic arthritis SUN Dong-ming*，GAO Jun，DING Yan，et al 2019, 34(10): 845-848.  DOI: 10.19538/j.ek2019100612 Abstract ( )   Objective　To investigate the changes of vascular endothelial function in children with active polyarticular juvenile idiopathic arthritis（JIA） and the effects of oxidative stress and lipid metabolism on endothelial function. Methods　Totally 42 children with active polyarticular JIA were divided into rheumatoid factor（RF） positive group and RF negative group，and 23 healthy children were randomly selected as normal control group. Brachial artery flow-mediated dilation（FMD），carotid intima-media thickness（cIMT），lipid profile and oxidative stress were measured and compared among these groups. Results　Brachial artery FMD in the RF positive and the RF negative groups were significantly lower than those in the control group，especially in RF positive patients（P＜0.05，respectively）. There were no significant differences in cIMT. Serum TG level was significantly higher（P＜0.05），while HDL-C level was significantly lower（P＜0.05） in the RF-positive group compared with the control group. Serum 8-iso-PGF2α level was significantly higher（P＜0.001） in the RF-positive group compared with the control group. However，significant increase in 8-iso-PGF2α level was observed in the RF negative group（P＜0.01）. Similarly，8-iso-PGF2α level increased more significantly in RF positive group compared with RF negative group（P＜0.05）. Brachial artery FMD  in polyarticular JIA was negatively associated with serum 8-iso-PGF2α（r＝-0.54，P＜0.01）. Conclusion 　Vascular endothelial dysfunction exists in the active polyarticular JIA，especially in RF-positive patients. Increasing oxidative stress may impair the endothelial function；however，the impact of dyslipidemia on endothelial function is not clear in polyarticular JIA.

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Clinical features analysis in 5 children of early onset epileptic encephalopathy with dyskinesia HU Chun-hui，SUN Dan，HU Jia-sheng，et al 2019, 34(10): 849-853.  DOI: 10.19538/j.ek2019100613 Abstract ( )   Objective　To investigate the clinical phenotype of children with early-onset epileptic encephalopathy and dyskinesia. Methods　The patients with early onset epileptic encephalopathy and dyskinesia were enrolled from September 2013 to September 2017. The clinical data was retrospectively analyzed. Results　A total of 5 children with early onset epileptic encephalopathy with dyskinesia were collected. Including 1 male and 4 females. 1 case of dyskinesia showed dancing-like movements，2 cases of dyslexia，ataxia mixed，1 case of limb tremor accompanied by wrist alternating twisting action，1 case of muscle tension associated with tremor，speech is unclear. 4 cases were positive for 1 genotype，1 case was mutation of SCN1A gene，2 cases were PRRT2 gene mutation，1 case was SLC2A1 gene mutation. After treatment，2 cases of seizure control effect is good，3 cases of poor results. Conclusion　Early onset epileptic encephalopathy with dyskinesia is easy misdiagnosed as epileptic seizures. Genetic associated with the pathogenic genes are mostly reported in the previous gene，PRRT2 gene，SLC2A1 gene mutation. Early onset of epilepsy with dyskinesia caused by SCN1A gene mutation has rarely been reported in the literature. Some children enjoy good results.

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Clinical and genetic studies of two cases of fructose-1，6-bisphosphatase deficiency caused by FBP1 mutations LYU Nan*，SHANG Qing，MA Cai-yun，et al 2019, 34(10): 854-858.  DOI: 10.19538/j.ek2019100614 Abstract ( )   Objective　To analyze the clinical and molecular genetic characteristics of 2 cases of fructose-1，6-bisphosphatase deficiency in the same family to provide evidence for the precise treatment，genetic counseling and prenatal diagnosis. Methods　Clinical data were collected from 2 patients with hypoglycemia encephalopathy，and molecular genetic analysis was performed using targeted capture next-generation sequencing. Results　The 2 patients were siblings，the male proband was 7 years old，mainly manifested with convulsions after hunger or ingestion of a large amount of fructose，accompanied by ketoacidosis；clinical diagnosis was hypoglycemia encephalopathy，and fructose metabolism abnormalities was suspected. The younger brother was 4 years old，mainly showing hunger and sweating in the morning，stomach ache after eating fruit，and convulsion episode once after hunger. Next-generation sequencing results showed that the siblings had c.333+1_2delinsTC and c.490G＞A compound heterozygous mutations in the FBP1 gene，and their parents were carriers with normal phenotype. The c.333+1_2delinsTC is a novel mutation，c.490G＞A is a reported pathogenic mutation，and the two patients were diagnosed with fructose-1，6-bisphosphatase deficiency genetically. Conclusion 　For children with unexplained hypoglycemia，convulsions and metabolic acidosis，the fructose-1，6-bisphosphatase deficiency should be considered. Early genetic analysis is helpful to clarify the cause，make precise treatment and improve prognosis.

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Late infantile neuronal ceroid lipofuscinosis caused by a CLN6 homozygous mutation:One case report and the literature review MA Tian-jiao，SUN Gui-lian，JIANG Hong 2019, 34(10): 859-863.  DOI: 10.19538/j.ek2019100615 Abstract ( )   Objective　To collect the clinical features and gene mutation types of children with neuronal ceroid lipofuscinosis（NCLs） in China，and to help to make genetic diagnosis of NCLs patients. Methods　The clinical manifestations and examinations of one case with complaints of language disorder for 1.5 years，dyskinesia for 0.5 years and repeated convulsions for one week were collected，and literatures of NCLs from China were reviewed. Results　The electroencephalogram（EEG） showed multiple spikes and slow-wave discharges bilaterally. The brain MRI scan showed high hyperintensities adjacent to the bilateral posterior horns of the lateral ventricles on T2-weighted images and broadened cerebellar fissures. The "leukoencephalopathies and symptomatic epilepsy" was diagnosed. The genetic analysis showed that the proband had a homozygous missense point mutation c.892G＞A（p.Glu298Lys）（reference sequence：NM_017882.2） in exon 7 of CLN6 and that both his parents were heterozygous for the mutation. The diagnosis of late infantile neuronal ceroid lipofuscinosis（LINCLs） was confirmed according to the clinical features and genetic analysis results. In CNKI，WANFANG and WIPP Databases，we reviewed the relevant domestic reports about NCLs（28 articles）. A total of 3 cases of CLN6 gene mutation were reported，including 2 cases of LINCLs caused by heterozygous mutation and 1 case of JNCLs caused by homozygous mutation. Here we reported the first case of LINCLs caused by a CLN6 homozygous mutation in China. Conclusion　This is the first case of LINCLs caused by CLN6 homozygous mutation reported in China. Our report expands the genotype data for NCLs. The mutant genes reported in NCLs patients are CLN1，CLN2，CLN3，CLN5，CLN6 and CLN7，and the clinical manifestations are intractable epilepsy，decreased vision，decreased intelligence，mental and motor dysfunction，personality and behavior changes，and memory decline. A gene sequencing panel for investigating unexplained seizures，leukoencephalopathies and inherited metabolic disorder can help to make the diagnosis.

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Camptodactyly，arthropathy，coxa cara，pericarditis（CACP） syndrome：A case report and literatures review WANG Chang-yan，WANG Wei，LI Ji，et al 2019, 34(10): 864-866.  DOI: 10.19538/j.ek2019100616 Abstract ( )

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Progress in the diagnostic methods and the process of cholestasis in neonates and infants HU Xiao-yue，LI Li 2019, 34(10): 867-871.  DOI: 10.19538/j.ek2019100617 Abstract ( )

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Progress in the application of IL-6 receptor antagonist in polyarticular juvenile idiopathic arthritis LING Jia-yun，HU Xiu-fen 2019, 34(10): 872-876.  DOI: 10.19538/j.ek2019100618 Abstract ( )

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Application of enteral nutrition in children with inflammatory bowel disease QI Ying-ying，WU Jie 2019, 34(10): 877-880.  DOI: 10.19538/j.ek2019100619 Abstract ( )