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作者：周怡重庆医科大学

学位级别：硕士

背景:高尿酸血症、肺动脉高压、肾衰竭和碱中毒综合征(HUPRA综合征)是一种罕见的常染色体隐性线粒体疾病。编码丝氨酰-t RNA合成酶的sars2基因是HUPRA综合征唯一的致病基因。既往报道的HUPRA综合征均为sars2基因上的错义突变,突变形式... 详细信息

背景:高尿酸血症、肺动脉高压、肾衰竭和碱中毒综合征(HUPRA综合征)是一种罕见的常染色体隐性线粒体疾病。编码丝氨酰-t RNA合成酶的sars2基因是HUPRA综合征唯一的致病基因。既往报道的HUPRA综合征均为sars2基因上的错义突变,突变形式均为纯合突变。方法:我们通过全基因组测序鉴定了一例由SARA2基因复合杂合突变引起HUPRA综合征,并用ACMG标准验证其致病性。回顾所有既往发现的sars2基因突变所致HUPRA综合征并做一文献复习。结果:在该中国患儿检测到由sars2基因复合杂合变异(c.667G>A/c.1205G>A)引起的HUPRA综合征。通过生物信息学研究和蛋白质模型构建,结合ACMG标准预测新突变位点(c.667G>A)的致病性为可能致病。研究分析了包括本例中国患儿在内的共六名HUPRA综合征患儿。除中国女孩未表现出肺动脉高压及碱中毒外,其余5例患儿均有典型的HUPRA综合征临床表现。在中国患儿中,肾脏缩小是其独有表现,同时发现其存活时间较长,为70个月,而此前报道的HUPRA综合征患儿平均存活时间仅为17个月。到目前为止,HUPRA综合征共被检测到3种变异体:包括5个纯合子突变,其中3个来自巴基斯坦(c.1169A>G),2个来自西班牙(c.1205G>A);1个复合杂合突变,来自本例中国患儿(c.667G>A/c.1205G>A)。结论:我们发现了引起HUPRA综合征sars2基因突变的一种新的致病形式(复合杂合突变),鉴定了sars2基因上一个新的可能致病性位点(c.667G>A),研究描述了该复杂杂合子突变的温和表型,扩展了sars2致病变异体的基因谱。我们发现肾脏缩小是HUPRA综合征新的临床表现,其可能与患儿存活时间相对较长相关。

关键词： HUPRA综合征 sars2 Seryl-tRNA合成酶

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Pushing past the tipping points in containment trajectories of severe acute respiratory syndrome coronavirus 2(sars-CoV-2)epidemics:A simple arithmetic rationale for crushing the curve instead of merely flattening it

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Infectious Disease Modelling 2020年第1期5卷 362-365页

作者： Gerry F.Killeen School of Biological Earth&Environmental Sciencesand Environmental Research InstituteUniversity College CorkIreland

Countries with ambitious national strategies to crush the curve of their Severe Acute Respiratory Syndrome Coronavirus 2(sars-CoV-2)epidemic trajectories include China,Korea,Japan,Taiwan,New Zealand and Australia.However,the United States and many hard-hit European countries,like Ireland,Italy,Spain,France and the United Kingdom,currently appear content to merely flatten the curve of their epidemic trajectories so that transmission persists at rates their critical care services can cope with.Here I present a simple set of arithmetic modelling analyses that are accessible to non-specialists and explain why preferable crush the curve strategies,to eliminate transmission within months,would require only a modest amount of additional containment effort relative to the tipping point targeted by flatten the curve strategies,which allow epidemics to persist at supposedly steady,manageable levels for years,decades or even indefinitely.

关键词： Coronavirus COVID sars2 Severe acute respiratory syndrome coronavirus 2 sars-CoV-2 Model Epidemiology Outbreak Zoonosis Emerging infection

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Why lockdown?Why national unity?Why global solidarity?Simplified arithmetic tools for decision-makers,health professionals,journalists and the general public to explore containment options for the 2019 novel coronavirus

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Infectious Disease Modelling 2020年第1期5卷 442-458页

作者： Gerry F.Killeen Samson S.Kiware Environmental Health and Ecological Sciences Department Ifakara Health InstituteIfakaraMorogoroUnited Republic of Tanzania School of Biological Earth&Environmental Sciences and Environmental Research InstituteUniversity College CorkIreland

As every country in the world struggles with the ongoing COVID-19 pandemic,it is essential that as many people as possible understand the epidemic containment,elimination and exclusion strategies required to tackle it.Simplified arithmetic models of COVID-19 transmission,control and elimination are presented in user-friendly Shiny and Excel formats that allow non-specialists to explore,query,critique and understand the containment decisions facing their country and the world at large.Although the predictive model is broadly applicable,the simulations presented are based on parameter values representative of the United Republic of Tanzania,which is still early enough in its epidemic cycle and response to avert a national catastrophe.The predictions of these models illustrate(1)why ambitious lock-down interventions to crush the curve represent the only realistic way for individual countries to contain their national-level epidemics before they turn into outright catastrophes,(2)why these need to be implemented so early,so stringently and for such extended periods,(3)why high prevalence of other pathogens causing similar symptoms to mild COVID-19 precludes the use of contact tracing as a substitute for lock down interventions to contain and eliminate epidemics,(4)why partial containment strategies intended to merely flatten the curve,by maintaining epidemics at manageably low levels,are grossly unrealistic,and(5)why local elimination may only be sustained after lock down ends if imported cases are comprehensively excluded,so international co-operation to conditionally re-open trade and travel between countries certified as free of COVID-19 represents the best strategy for motivating progress towards pandemic eradication at global level.The three sequential goals that every country needs to emphatically embrace are contain,eliminate and exclude.As recently emphasized by the World Health Organization,success will require widespread genuine national unity and unprecedented global solidarity.

关键词： Coronavirus COVID-19 sars2 Severe acute respiratory syndrome coronavirus 2 sars-CoV-2 Model Epidemiology Outbreak Zoonosis Emerging infection

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Long, thin transmission chains of Severe Acute Respiratory Syndrome Coronavirus 2 may go undetected for several weeks at low to moderate reproduction numbers: Implications for containment and elimination strategy

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Infectious Disease Modelling 2021年第1期6卷 474-489页

作者： Gerry F.Killeen Patricia M.Kearney Ivan J.Perry Niall Conroy School of Biological Earth&Environmental SciencesUniversity College CorkCorkIreland Environmental Research Institute University College CorkCorkIreland School of Public Health University College CorkCorkIreland Wide Bay Public Health Unit QueenslandAustralia Faculty of Medicine University of QueenslandBrisbaneQueenslandAustralia

Severe Acute Respiratory Syndrome Coronavirus 1(sars-CoV-1)infections almost always caused overt symptoms,so effective case and contact management enabled its effective eradication within months.However,Severe Acute Respiratory Syndrome Coronavirus 2(sars-CoV-2)usually causes only mild symptoms,so transmission chains may grow to include several individuals before at least one index case becomes ill enough to self-report for diagnosis and care.Here,simple mathematical models were developed to evaluate the implications of delayed index case detection for retrospective contact tracing and management responses.Specifically,these simulations illustrate how:(1)Contact tracing and management may effectively contain most but not all large sars-CoV-2 clusters arising at foci with high reproduction numbers because rapidly expanding transmission chains ensure at least one overtly symptomatic index case occurs within two viral generations a week or less apart.(2)However,lower reproduction numbers give rise to thinner transmission chains extending through longer sequences of non-reporting asymptomatic and paucisymptomatic individuals,often spanning three or more viral generations(2 weeks of transmission)before an overtly symptomatic index case occurs.(3)Consequently,it is not always possible to fully trace and contain such long,thin transmission chains,so the community transmission they give rise to is underrepresented in surveillance data.(4)Wherever surveillance systems are weak and/or transmission proceeds within population groups with lower rates of overt clinical symptoms and/or self-reporting,case and contact management effectiveness may be more severely limited,even at the higher reproduction numbers associated with larger outbreaks.(5)Because passive surveillance platforms may be especially slow to detect the thinner transmission chains that occur at low reproduction numbers,establishing satisfactory confidence of elimination may require that no confirmed cases are detected for two full months,throughout which presump

关键词： Coronavirus COVID sars2 Severe Acute Respiratory Syndrome Coronavirus 2 sars-CoV-2 Model Epidemiology Outbreak Case and contact management

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