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Objective To quantitatively analyze the risk indicators of re-introduction of imported malaria in China and their weighting coefficients, so as to investigate the difference in the contribution of risk indicators included in the current risk assessment framework for re-introduction of imported malaria in China to the risk assessment of re-introduction of imported malaria. Methods Publications pertaining to the risk assessment framework for re-introduction of imported malaria in China that reported the risk indicators and their weighting coefficients were retrieved in PubMed, Web of Science, CNKI, Wanfang Data, and VIP with terms of “malaria”, “re-introduction/re-transmission/re-establishment”, “risk assessment/risk evaluation/risk prediction” from the inception of the database through 3 August 2023, and literature search was performed in Google Scholar to ensure the comprehensiveness of the retrieval. Basic characteristics of included studies were extracted using pre-designed information extraction forms by two investigators, and data pertaining to risk indicators of re-introduction of imported malaria were cross-checked by these two investigators. The risk indicators included in the risk assessment framework for re-introduction of imported malaria in China and their weighting coefficients were visualized with the Nightingale’s rose diagrams using the software R 4.2.1, and the importance of risk indictors was evaluated with the frequency of risk indicators included in the risk assessment framework and the ranking of weighting coefficients of risk indicators. In addition, the capability of risk indicators screened by different weighting methods was compared by calculating the ratio of the maximum to the minimum of the weighting coefficients of the risk indicators screened by different weighting methods. Results A total of 2 138 publications were retrieved, and following removal of duplications and screening, a total of 8 publications were included in the final analysis. In these 8 studies, 8 risk assessment frameworks for re-introduction of imported malaria in China and 52 risk indicators of re-introduction of imported malaria were reported, in which number of imported malaria cases (n = 8) and species of malaria vectors were more frequently included in the risk assessment frameworks (n = 8), followed by species of imported malaria parasites (n = 6) and population density of local malaria vectors (n = 6), and species of local malaria vectors (n = 6), number of imported malaria cases (n = 5) and species of imported malaria parasites had the three highest weighting coefficients (n = 4). The weighting methods included expert scoring method, combination of expert scoring method and analytic hierarchy process, and combination of expert scoring method and entropy weight method in these 8 studies, and the ratios of the maximum to the minimum of the weighting coefficients of the risk indicators screened by the expert scoring method were 1.143 to 2.241, while the ratios of the maximum to the minimum of the weighting coefficients of the risk indicators screened by combination of the expert scoring method and analytic hierarchy process were 34.970 to 162.000. Conclusions Number of imported malaria cases, species of imported malaria parasites, species of local malaria vectors and population density of local malaria vectors are core indicators in the current risk assessment framework for re-introduction of imported malaria in China. Combination of the expert scoring method and analytic hierarchy process is superior to the expert scoring method alone for weighting the risk indicators.
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Objective:To investigate the clinical characteristics and gene variation of asparagine synthase deficiency that is caused by ASNS gene variation. Methods:In Department of Neuroendocrine Pediatrics, Affiliated Hospital of Qingdao University from October 2018 to February 2020, the clinical data of a family of asparagine synthase deficiency were analyzed retrospectively.The pathogenic mutation of the proband was screened by the full exon analysis technique.The pathogenic sites of candidate genes were determined by combining the phenotype of the proband.In the heterotopic spot of the proband, his parents and other family members were verified by Sanger sequencing.Meanwhile, the relevant literature database was consulted, and the reported ASNS mutation related cases were collected and reviewed. Results:The female with proband visited the hospital at the age of 4 months, and she had recurrent convulsions at the age of about 3 months.Physical examination showed that the child suffered from microcephaly, and mental and motor retardation.Meanwhile, video electroencephalogram examination displayed extensive moderate high amplitude spiny slow wave and sharp slow wave.Exon sequencing illustrated that the compound heterozygous variants of ASNS gene were c. 1211G>A (p.R404H) and c. 1643C>T (p.S548F), respectively.c.1211G>A was a known pathogenic variant, and c. 1643C>T was a new variant.The proband′s younger brother visited the hospital at the age of 2 months, developed convulsions at the age of 1 month, and developed mental and motor retardation.Electroencephalogram displayed that bilateral posterior head was dominant, multiple foci and extensive spike wave, and spike slow wave and fast wave were distributed.Sanger sequencing revealed the same ASNS compound heterozygous variants as the proband.Both of them died of status convulsion at the age of 7 months and 6 months, respectively. Conclusions:This study is helpful to further understand the clinical features of the disease and reveal a new pathogenic mutation of ASNS gene, so as to enrich the mutation spectrum of ASNS gene, thus providing important basis for clinical treatment and genetic counseling.