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06 April 2022, Volume 37 Issue 4 Previous Issue    Next Issue

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Expert consensus on the diagnosis and treatment of Bardet-Biedl syndrome in children in Chin National Clinical Research Center for Child Health, Rare Disease Group of Chinese Pediatric Society of Chinese Medical Association 2022, 37(4): 241-247.  DOI: 10.19538/j.ek2022040601 Abstract ( )

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Promoting early screening，early diagnosis and early treatment of genetic rare diseases actively SUN Yong, ZHAO Zheng-yan 2022, 37(4): 248-252.  DOI: 10.19538/j.ek2022040602 Abstract ( )   Although the prevalence and incidence rate of genetic rare diseases is low，many countries have taken the studies of genetic rare diseases as a national development strategy as it is difficult to cure，involves multiple organs and systems，and seriously endanger childrens health. The most effective way to prevent genetic rare diseases is to move the screening gateway to carrier screening and neonatal screening. Next generation sequencing （NGS），and multidisciplinary diagnosis and early treatment are effective means to improve early diagnosis and treatment. Precision medicine will create a new chapter in the diagnosis and treatment of genetic rare diseases.

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Training of rare disease pediatricians DING Jie 2022, 37(4): 253-256.  DOI: 10.19538/j.ek2022040603 Abstract ( )   rare Training disease for pediatricians is one of the challenges and difficulties among entire rare disease field.The importance of such training should be well recognized.It is suggested that rare disease training for pediatricians could follow the national relevant regulations and policies，based on the demonds of local patients and，carry out on different levels，requirements and practice.The aim of training will benefit more for patients.

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Diagnosis and management of genetic imprinting disorders DAI Yang-li, ZHONG Mian-ling, CHAO Yun-qi, et al 2022, 37(4): 256-261.  DOI: 10.19538/j.ek2022040604 Abstract ( )   Imprinting disorders are a group of rare genetic diseases caused by genomic imprinting dysregulation.They are largely misdiagnosed or missed due to the fact that they involve multiple systems and the clinical manifestations are various，some of which are with genetic heterogeneity.The pathogenesis of imprinting disorders is complex and unclear，resulting in a lack of effective treatment methods.This article introduces the pathogenesis，related diagnosis methods and the latest progress in treatment research of imprinting disorders in order to provide reference for the diagnosis and management of imprinting disorders.

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Genetic characteristics of common multiple congenital anomalies in newborns XIAO Fei-fan, ZHOU Wen-hao 2022, 37(4): 261-264.  DOI: 10.19538/j.ek2022040605 Abstract ( )   Neonatal multiple congenital anomalies（MCAs）are defined as neonates have two or more structural malformations at birth.The common malformation feature are dysmorphic facial features，congenital heart defect，another organs malformation，et al.The common genetic factors of MCAs included chromosome anomalies，single nucleotide variant，and copy number variant.This study illustrating these genetic phenotype characteristics of common MCAs syndrome from three kinds of genetic factors，we hope to provide help for the early clinical identification，diagnosis and treatment of MCAs.

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Multidisciplinary management and diagnosis and treatment mode of spinal muscular atrophy in China LI Wen-hui, LI Hui, WANG Da-hui, et al 2022, 37(4): 265-268.  DOI: 10.19538/j.ek2022040606 Abstract ( )   Spinal muscular atrophy（SMA）is characterized by degeneration of motor neurons in the spinal cord with progressive muscle atrophy，weakness and paralysis.Effective and efficient management of the patient with SMA requires coordination of multiple clinical specialists.The need for an update on multidisciplinary management of SMA has been driven by the approval of the drugs which are disease modifying therapy for SMA in China.The article aims to review and introduce multidisciplinary management of SMA.

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Genetic diagnosis of interstitial lung disease in children ZHANG Fei-zhou, TANG Lan-fang 2022, 37(4): 269-272.  DOI: 10.19538/j.ek2022040607 Abstract ( )   Child interstitial lung disease（chILD）is a group of rare，complicated and highly heterogeneous diseases，which are mainly characterized by diffuse lung infiltration，restrictive ventilation and ventilatory dysfunction.The diagnosis of chILD requires comprehensive analysis of age，clinical manifestations，chest high-resolution CT（HRCT），bronchoscopy and genetic analysis；especially，in the current rapid development of genetic analysis，bronchoscopy，thoracoscopiy and thoracotomic lung biopsy are no longer the main diagnostic methods.This elaborates on the genetic diagnosis of chILD.

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Towards a full understanding of genetic testing ZHANG Jun-yu, SHEN Yi-ping 2022, 37(4): 272-276.  DOI: 10.19538/j.ek2022040608 Abstract ( )   Genetic testing is defined as“the analysis of human DNA，RNA，chromosomes，proteins，and certain metabolites in order to detect heritable disease-related genotypes，mutations，phenotypes，or karyotypes for clinical purposes”This definition made more than 20 years ago.is still valid and accurate.This article mainly introduces the definition and connotation of genetic testing.We emphasize that genetic testing is not limited to test for changes in DNA or chromosome，a multiomice approach will play a bigger role.Genetic testing covers both monogenic and polygenic disorders，and genetic counseling is an essential component of the process.Disease prevention and prediction is going to be more important than disease diagnosis in future for genetic testing application.A comprehensive understating of the nature and content of genetic testing will help to facilitate the implementation of Genomic Medicine by demonstrating its clinical and social utilities.

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Bioinformatic analysis of temporal lobe epilepsy with hippocampal sclerosis related to early complex febrile seizures injury HU Jia, HU Chun-hui, LIU Zhi-sheng, et al 2022, 37(4): 277-282.  DOI: 10.19538/j.ek2022040609 Abstract ( )   Objective　To investigate the potential pathogenesis and biomarkers by analyzing the gene chip data from temporal lobe epilepsies（TLE）patients with an history early of complex febrile seizures（CFS）and controls by using bioinformatic tools. Methods　The gene chip （GSE28674） was downloaded from GEO database.The chip data were collected and uploaded by the Paediatrics Department of the University Hospital of Sao Paulo in 2011，including the hippoca3 transcriptomic data of 18 children with temporal lobe epilepsy.R soft ware was employed for the identification of the differentially expressed genes（DEGs）of TLE-HS with CFS compared with those without FS.The gene ontology（GO）and the Kyoto encyclopedia of genes and genomes（KEGG）analysis were performed to establish protein-protein interaction network and hub genes were found，Which were used to make ROC curve performance analysis. Results　GSE28674 consisted of 6 TLE-HS patients with CFS and 12 TLE-HS patients without FS.We captured a total of 254 DEGs，of which 236 were upregulated and 18 were downregulated.The results of GO and KEGG indicated that these DEGs were significantly enriched in the pathways of GABAergic synapse，retrograde endocannabinoid signaling，neurotransmitter secretion and calmodulin binding.The top 10 hub genes with the highest connectivity in the PPI network were GABRG2，NRXN1，GABRA1，KCNQ2，GRIN2A，SYT1，GRIN1，SNAP25，SYP，SLC32A1，among which GABRA1，NRXN1 and GRIN2A had high diagnostic value. Conclusion　The 10 hub genes screened in this study can be used as diagnostic biomarkers of early CFS injury promoting TLE-HS.GABRG2 and GABRA1 may participate in early CFS injury promoting TLE-HS through GABAergic synaptic and retrograde endogenous cannabinoid signaling pathway.

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Clinical analysis of 11 cases of non-human immunodeficiency virusassociated Talaromyces marneffei infection combined with hemophagocytic lymphohistiocytosis in children FAN Hui-feng, TAO Jian-ping, WANG Jia-yi, et al 2022, 37(4): 283-288.  DOI: 10.19538/j.ek2022040610 Abstract ( )   Objective　To investigate the clinical features and diagnosis and treatment of non-human immunodeficiency virus（HIV）-associated Talaromyces marneffei（T.marneffei）infections combined with hemophagocytic lymphohistiocytosis（HLH）in children.Methods　The demographic characteristics，clinical manifestations，physical signs and laboratory examinations of 11 non-HIV children diagnosed with T.marneffei infection combined with HLH in Guangzhou Women and Childrens Medical Center from January 2010 to December 2020 were retrospectively analyzed，and the factors affecting the prognosis were preliminarily investigated.Results　Among the 11 children，ther were 7 males and 4 females，aged from 3 months to 3 years（median：one-year and ten-months old）.The most common clinical manifestations and signs were fever（11/11，100.00%），hepatosplenomegaly（11/11，100.00%）and cough（9/11，81.82%）.Other severe complications included septic shock（10/11，90.91%），acute respiratory distress syndrome（ARDS）（8/11，72.73%）multiple organ dysfunction syndrome（MODS）（8/11，72.73%），et al.All patients had decreased blood cells，increased C-reactive protein（CRP），and increased aspartate aminotransferase（AST）.The common abnormalities of peripheral immune profiles were decreased NK cell count（7/10，70.00%）and decreased serum IgG（4/11，36.36%）.Genetic testing was performed in six children，two cases were diagnosed as primary immunodeficiency disease（PIDs），one case was found to have COPA gene mutation，another one was found to have multiple locus gene mutation，and two cases were not found to have disease-related gene mutation.All children were confirmed by culture and/or histopathology to be with T.marneffei infection.Ten of them were treated with antifungal therapy，and sequential treatment with amphotericin B combined with itraconazole was the most commonly used.Eight cases were given pediatric advanced life support，and five cases were treated with HLH-2004.Finally，eight children died（8/11，72.73%）.Conclusion　The clinical manifestations of T.marneffei infection combined with HLH in non-HIV children are not specific，with more severe condition and higher mortality，and it is easy to be misdiagnosed or missed.Blood culture and bone marrow culture are carried out to detect pathogens for early identification，and early antifungal therapy and chemotherapy might improve the prognosis of children.

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Infantile epilepsy caused by HCN1 gene mutation in one case and literature review LIU Xiao-rui, FANG Zhi-xu, JIANG Li 2022, 37(4): 289-292.  DOI: 10.19538/j.ek2022040611 Abstract ( )

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One case of antiphospholipid syndrome and thrombotic microangiopathy secondary to systemic lupus erythematosus in children and literature review YAN Xin, ZHANG Zhi-yong, LUO Chong, et al 2022, 37(4): 293-296.  DOI: 10.19538/j.ek2022040612 Abstract ( )

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Research progress in sarcopenia and child health HONG Yi, LONG Qi, MAO Shan-shan 2022, 37(4): 297-301.  DOI: 10.19538/j.ek2022040613 Abstract ( )

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Research progress in comorbidity and identification of autism spectrum disorder and intellectual disability YANG Yu-lin, DAI Ying 2022, 37(4): 302-307.  DOI: 10.19538/j.ek2022040614 Abstract ( )

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Research progress in sleep disorders in children with cerebral palsy ZHOU Jing-yi, WANG Ju-li 2022, 37(4): 308-312.  DOI: 10.19538/j.ek2022040615 Abstract ( )

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Analysis of clinical phenotype and gene mutation in one case of muscle-eye-brain disease with new POMGNT1 mutation JIAO Feng, DUAN Li-fen, LI Li, et al 2022, 37(4): 313-316.  DOI: 10.19538/j.ek2022040616 Abstract ( )

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Clinical characteristics and gene mutation of one case of type 3 progressive familial intrahepatic cholestasis GAN Chuan, XU Hong-mei 2022, 37(4): 317-320.  DOI: 10.19538/j.ek2022040617 Abstract ( )