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06 April 2023, Volume 38 Issue 4 Previous Issue   

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Consensus on diagnosis and treatment of childhood vasculitis in China：General  Academic Group of Pediatric Rheumatology and Immunology, Society of Pediatrics, Chinese Medical Doctor Association 2023, 38(4): 241-247.  DOI: 10.19538/j.ek2023040601 Abstract ( )   Children's vasculitis is in lack of specific clinical manifestations，which is difficult to identify in time，and it is also relatively difficult to treat and evaluate the efficacy，which seriously endangers childhood health.This article mainly describes the characteristics of systemic symptoms and organ involvement of childhood vasculitis，and emphasizes that vascular imaging or histopathological examination is the main basis for diagnosis of vasculitis.Treatment includes inducing disease remission and preventing disease recurrence.It is recommended to evaluate the efficacy with Children's Vasculitis Activity Score，in order to improve the prognosis of children with vasculitis.

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Consensus on diagnosis and treatment of childhood vasculitis in China：Takayasu's arteritis Academic Group of Pediatric Rheumatology and Immunology, Society of Pediatrics, Chinese Medical Doctor Association 2023, 38(4): 248-253.  Abstract ( )   Childhood-onset Takayasu's arteritis is chronic systemic vasculitis affecting the aorta and its major branches.The etiology of Takayasu's arteritis remains unknown. The disease lacks specific clinical manifestations.Fever，hypertension and increased acute phase reactants can be early warning. CTA or MRA and other vascular imaging for suspected cases are helpful for early diagnosis.Glucocorticoid combined with methotrexate is the first-line treatment.TNF- α or IL-6R antagonists are suggested in severe and relapsed cases.The burden of childhood TA is heavy，and long-term monitoring and management are needed to improve the prognosis.

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Diagnosis and treatment strategy of very early-onset infla-mmatory bowel disease HUANG Ying, YE Zi-qing 2023, 38(4): 254-258.  DOI: 10.19538/j.ek2023040603 Abstract ( )   Patients with very early-onset inflammatory bowel disease（VEO-IBD）have early disease onset，limited environ-mental exposure，and strong family history. Most cases are due to single gene defect. This entity is different from pediatric and adolescent IBD in pathogenesis and natural disease history.VEO-IBD patients have severe inflammatory manifestations and extensive colitis with systemic involvement.Patients suffer from high mortality.In order to improve outcome and prognosis，prompt precise diagnosis and treatment should be carried out.

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Study on the mechanism of single cell technology to assist inflammatory bowel disease GENG Lan-lan 2023, 38(4): 258-261.  DOI: 10.19538/j.ek2023040604 Abstract ( )   Intestinal mucosa plays a central role in the pathogenesis of inflammatory bowel disease（IBD），but the molecular and cellular composition of its diverse environment is still unclear. Single cell technology provides an opportunity to accurately map the tissue structure，describes the previously neglected rare cell types，and defines functions at the single cell level. This article reviews the application of single cell technology in the study of IBD in recent years，which is expected to bring potential revolution in our understanding of the pathogenesis of IBD，and promote a new era of drug discovery and personalized care.

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Research advance in predicting the efficacy of anti-TNF therapy for pediatric inflammatory bowel disease HAN Ya-nan, FANG Ying 2023, 38(4): 262-266.  DOI: 10.19538/j.ek2023040605 Abstract ( )   Anti-tumor necrosis factor（TNF）monoclonal anti-body is currently the only approved biological agent for pediatric inflammatory bowel disease. However，due to the high proportion of primary or secondary loss of response to this treatment，the clinical benefit to some children with inflammatory bowel disease is limited.Therefore，it is particularly important for clinicians to predict the efficacy of biological agents before treatment and to find the suitable population for biological agents treatment.This article reviews the recent studies on the prediction of the efficacy of anti-TNF monoclonal antibodies in the treatment of pediatric IBD.

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Treatment monitoring and prognosis assessment of Crohn's disease in children SU Wen, XIAO Yuan 2023, 38(4): 266-270.  DOI: 10.19538/j.ek2023040606 Abstract ( )   Clinical remission and mucosal healing are treatment target for children with Crohn's disease（CD）.Disease activity score，inflammatory marker，magnetic resonance，endoscopic presentation，nutrition and growth，therapeutic drug monitoring as well as screening for TB infection are good markers for evaluating therapeutic response and adjusting treatment strategy. The evaluation effect of the combined application of multiple indicators is better than that of a single indicator. The monitoring method with less trauma and radiation exposure should be considered first.

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Application of biological agents in children with inflammatory bowel disease CAO Zhong-qiang, ZHOU Hui-zi, WANG Zhao-xia 2023, 38(4): 271-276.  DOI: 10.19538/j.ek2023040607 Abstract ( )   The incidence of inflammatory bowel disease （IBD（) in children is increasing and shows characteristics such as a younger age of onset and difficulty in treatment. Biologics have shown good efficacy in adult IBD patients, and their use in the treatment of pediatric IBD has become increasingly widespread in recent years. Understanding the indications, contraindications, timing, and regimen of biologic therapy for pediatric IBD, as well as efficacy evaluation, medication risks, cessation strategies, and follow-up management, can help avoid risks and benefit patients as much as possible. This article will discuss the use of biologics in the treatment of pediatric IBD.

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Nutrition support treatment for inflammatory bowel disease in children LI Dong-dan, WU Jie 2023, 38(4): 276-281.  DOI: 10.19538/j.ek2023040608 Abstract ( )   IBD is a complex multifactorial immune-mediated disease.Malnutrition is common in children with IBD.Nutritional risk screening and assessment should be routinely carried out.Nutritional therapy plays an important role in the treatment of children with IBD，whether as first-line therapy or to correct malnutrition.This article reviews the nutritional strategies in pediatric IBD management，aiming to provide evidence for clinical practice of pediatric physicians based on the scientific evidence.

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Endoscopic treatment for Crohn's disease YU Fei-hong 2023, 38(4): 282-284.  DOI: 10.19538/j.ek2023040609 Abstract ( )   Crohn’s disease（CD）can occur in the whole digestive tract，and stricture and fistula formation are common complications of CD. In recent years，the endoscopic therapy for CD has been increasing，and endoscopic balloon dilation and stricturotomy have become effective treatment options for CD-associated strictures，and endoscopic therapy is also incr-easingly used in CD-associated fistula，which can effectively delay or avoid surgical intervention. The article introduces endoscopic strategy for CD with stricture and fistula.

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Etiological analysis of arterial ischemic stroke in children of different age groups ZHOU Ji, ZHUO Xiu-wei, ZHANG Wei-hua, et al 2023, 38(4): 285-290.  DOI: 10.19538/j.ek2023040610 Abstract ( )   The clinical data of children with AIS admitted to Neurological Department of Beijing Children's Hospital in recent 5 years were retrospectively analyzed.According to management guidelines of American Heart Association/American Stroke Association，the etiology of AIS was classified into five categories：cardiac，thrombophilia，arteriopathy，other and unknown etiology. According to age，they were classified as infants（>28 days and<3 years old），（pre）school-age children（≥3 years old and <10 years old）and adolescents（≥10 years old and <18 years old）. The clinical characteristics of different etiology was analyzed. Results    A total of 129 children with AIS were included.Arteriopathy was the primary cause of AIS in children，47 cases（36.43%）.The most common subtypes were focal cerebral arteriopathy（FCA，15 cases）and Moyamoya disease（17 cases）.There were 51 cases of AIS in infants（39.53%）.Basal ganglia infarction after trauma was the primary cause（24/51，47.06%）.Basal ganglia calcification was found in 21 of these children. Totally 54 cases（41.86%）of AIS were found in（pre）school-age children and 24 cases（18.60%）in adolescents.Arteriopathy was the primary cause for both groups.In（pre）school-age children with AIS，there were 11 children with unknown etiology，all of whom were male. Cerebral MRI indicated spotted and flaky lesions in area supplied by vertebrobasilar artery.The diagnosis of vertebral artery dissection could not be ruled out. However，no neck MRA or CTA examination was performed. Two children in adolescent group were diagnosed with deficiency of adenosine deaminase 2 by gene detectiion. Conclusion    There are differences in etiology of AIS in children of different age groups. Basal ganglia infarction after trauma is the primary cause in infants. Arteriopathy is the primary cause in（pre）school-age children and adolescents.FCA and Moyamoya disease are the most common subtypes of arteriopathy.

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Study of  SYNGAP1  gene -related  neurological  phenotypes spectrum and characteristics  of  gene  variation TAN Quan-zhen, YANG Ying, NIU Xue-yang, et al 2023, 38(4): 291-296.  DOI: 10.19538/j.ek2023040611 Abstract ( )   Objective    To summarize the neurological phenotypes spectrum and characteristics of SYNGAP1 gene variation in children. Methods    The clinical data of 23 children with SYNGAP1 gene variation were retrospectively collected in the pediatric outpatient of Peking University First Hospital from May 2015 to March 2022，their clinical phenotypes，gene variations characteristics and treatment prognosis were analyzed. Results    Among the 23 children with SYNGAP1 gene variation，there were 7 male and 16 female，and 23 were all de novo variations，including 9 missense variations，7 nonsense variations，6 frame-shifting variations，and 1 splicing site variation. All 23 patients had developmental retardation，of which 21（91.3%，21/23）had seizures with onset age ranging from 8 months to 5 years（median onset age being 2 years and 1 month）. The types of seizures included atypical absence in 8 cases，eyelid myoclonic seizures with or without absence in 6 cases，myoclonic seizures in 6 cases，atonic seizures in 3 cases，epileptic spasm in 2 cases，and general tonic-clonic seizures in 1 case.The EEG background activity was slow in all patients. Twenty-two patients had generalized discharges during the interictal period and 1 patient had no abnoamal discharges. MRI was normal in all 23 cases. The phenotype of epilepsy syndrme included，eyelid myoclonus with absence（4 cases），infantile spasm（1 case），and Doose syndrome（1 case）. One patient was diagnosed with febrile seizures. Three patients（13%，3/23）had autistic features.Among the 21 children with seizures，20 were treated with anti-seizure mes（ASM）. Seizures were controlled in 7 patients for over ayear，and the medicines used were valproic acid（6），levetiracetam（3），lamotrigine（2），and topiramate（1）Among them，4 were also given 2 to 3 ASMs.Thirteen patients had uncontrolled seizures. One patient with febrile seizures didn't use ASM. Conclusion    All SYNGAP1 gene variations are in a few cases are de novo，and the types of variations mainly include missense，nonsense，and frame shift variations，and splicing site variations are in a few cases. The clinical features of SYNGAP1 gene variation include developmental delay，more than 90% have epileptic seizures，and a few have autistic features.Epilepsy starts in early childhood，multiple seizure types can be observed，and the common seizure types include atypical absence，eyelid myoclonus with or without absence，and myoclonic seizures.Phenotypes of epilepsy syndromes include eyelid myoclonus with absence，infantile spasm，and Doose syndrome.A few are febrile seizures.Broad spectrum ASM should be selected for the treatment of SYNGAP1 related epilepsy.

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Diet and drug therapy for Wilson's disease FANG Wei-yuan, WANG Jian-she 2023, 38(4): 297-300.  DOI: 10.19538/j.ek2023040612 Abstract ( )   Wilson’s disease is a primary copper metabolic disorder caused by ATP7B gene variation. It’s one of the treatable genetic metabolic diseases.The management included dietary restriction of copper，medical therapy and liver transplantation etc，However，dietary copper restriction can’t be the only treatment for Wilson‘s disease since low copper diet alone cannot prevent the progression，and copper-removal rugs or zinc agents must be used for treatment. Dietary restriction of copper-rich foods is advised during the first year after diagnosis，but whole life strict low copper diet is not recommended for Wilson’s disease.Overly copper restrictive diets are also associated with secondary copper deficiency，which affects life quality and nutritional status of Wilson’s disease patients.Medical therapy is still the primary treatment for Wilson’s disease；and dietary treatment is an important auxillary means.

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Research progress on the risk factors of pediatric acute recurrent pancreatitis TUO Wei, LI Zhong-yue 2023, 38(4): 301-306.  DOI: 10.19538/j.ek2023040613 Abstract ( )   The incidence of pediatric acute pancreatitis（AP）has increased over the last several years，more acute recurrent pancreatitis（ARP）has been identified as well.ARP has extremely adverse effects on children's physical and mental health due to its continual recurring episodes.Furthermore，ARP is at risk of deteriorating into chronic-pancreatitis（CP）.Treatments targeting risk factors are beneficial to improving the curative effect and reducing the relapses of ARP.This overview provides a review of the relevant research progresses in childhood ARP，focusing on the risk factors，which is aimed to be of help in clinical work.

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Introduction to the screening tool for autism in two-year-olds （STAT） SONG Jia-li, DAI Ying 2023, 38(4): 307-313.  DOI: 10.19538/j.ek2023040614 Abstract ( )   Despite the high prevalence and harmfulness of autism spectrum disorders （ASD）， early intervention can apparently improve symptoms. Early detection and diagnosis of ASD has very important practical significance. Therefore， the paper summarizes the application and development of an interactive level 2 screening instrument for ASD: the Screening Tool for Autism in Two-Year-Olds （STAT）， aiming to provide some theoretical basis for the application and promotion of STAT in China， and then improve the opportunity for early screening， diagnosis and intervention of ASD. STAT has strong and stable psychometric properties， and it can also directly observe children's key behaviors. It is easy to operate， with standardized evaluation and easy to manage， too. It can provide basis for early diagnosis and intervention of ASD， and has a promising clinical application.

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A case report of Wiskott-Aldrich syndrome characterized by monocytosis and literature review LUO Xian-ze, ZHAO Qin, TANG Xue-mei, et al 2023, 38(4): 314-320.  DOI: 10.19538/j.ek2023040615 Abstract ( )   To explore the specific clinical phenotype of Wiskott-Aldrich syndrome（WAS）. The clinical data and laboratory results of one WAS patient characterized by monocytosis were retrospectively analyzed，and the relevant literature was reviewed. A boy aged 3 months visited us for thrombocytopenia and anemia. in March，2017 He also presented with hepato splenomegaly and intermittent bloody stools. The routine blood test showed an increased number of leukocytes，neutrophils，and monocytes，decreased number of hemoglobin and platelet volume.The primitive naive cells in peripheral blood and bone marrow were not high.So a diagnosis of JMML was initially suspected.However，no abnormalities were found in JMML-related genes or chromosome karyotypes. Low WAS protein（WASP）expression level was determined by flow cytometry.Genomic sequencing showed a hemizygous variation of c.151G>T（p.V51F）of WAS gene.Finally，the patient was diagnosed with WAS. WAS shows significant clinical phenotypic variations.Screening for WASP and WAS gene is recommended for boys with early onset thrombocytopenia.