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您的检索式：作者名="Laura Addis"
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| 1 | Operational adaptations of the trachoma pre-validation surveillance strategy employed in Ghana:a qualitative assessment of successes and challenges显示文摘Background:In 2009 Ghana began to design a trachoma pre-validation surveillance plan,based on then-current WHO recommendations.The plan aimed to identify active trachoma resurgence and identify and manage trichiasis cases,through both active and passive surveillance approaches.This paper outlines and reviews the adaptations made by Ghana between 2011 and 2016.The assessment will provide a learning opportunity for a number of countries as they progress towards elimination status.Methods:A mixed methods approach was taken,comprising in-depth interviews and documents review.Between January and April 2016,20 in-depth interviews were conducted with persons involved in the operationalisation of the trachoma surveillance system from across all levels of the health system.A three-tier thematic coding framework was developed using a primarily inductive approach but also allowed for a more iterative approach,which drew on aspects of grounded theory.Results:During the operationalisation of the Ghana surveillance plan there were a number of adaptations(as compared to the WHO recommendations),these included:(i)Inclusion of surveillance of active trachoma in the passive surveillance approach,as compared to trichiasis alone.Issues with case identification,challenges in implementation coverage and a non-specific reporting structure hampered effectiveness;(ii)Random selection and increase in number of sites selected for the active surveillance component.This likely lacked the spatiotemporal power to be able to identify recrudescence in a timely manner;(iii)Targeted trichiasis door-to-door case searches,led by ophthalmic nurses.An effective methodology to identify trichiasis cases but resource intensive;(iv)A buddy system between ophthalmic nurses to support technical skills in an elimination setting where it is difficult to attain diagnostic and surgical skills,due to a lack of cases.The strategy did not take into account the loss of proficiency within experienced personnel.Conclusions:Ghana developed a comprehensive surveillance system that exceeded the WHO recommendations but issues with sensitivity and specificity likely led to an inefficient use of resources.Improved targeted surveillance strategies for identification of recrudescence and trichiasis case searches,need to be evaluated.Strategies must address the contextual changes that arise because of transmission decline,such as loss of surgical skills. | Laura Senyonjo Agatha Aboe Robin Bailey David Agyemang Benjamin Marfo Seth Wanye Elena Schmidt James Addy Karl Blanchet | 2019 | Infectious Diseases of Poverty2019，8，4： | 0 |
| 2 | 肌阵挛性失张力癫痫的表型与遗传谱显示文摘文章旨在描述一个大样本量的癫痫伴肌阵挛性失张力发作(MAE)患者神经发育损害程度,并确定其遗传学病因。采用标准化的神经心理学仪器对MAE患者的癫痫特征、智力残疾、自闭症谱系障碍和注意缺陷/多动障碍进行深入的表型分析。我们对癫痫和神经精神疾病的基因集进行外显子分析(全外显子测序),以确定遗传学病因。研究共分析了101例MAE患者(70%为男性)。发作年龄中位数为34月龄(范围6~72月龄)。主要发作类型为肌阵挛性失张力发作或失张力发作100%、全身强直阵挛性发作72%、肌阵挛性发作69%、失神性发作60%、强直性发作19%。研究观察到62%的患者有智力障碍,69%的患者适应行为评分极低。此外,24%表现出自闭症症状,37%表现出注意力缺陷/多动症状。85例患者中的12例(14%)发现了致病性变异,包括5例先前发表的患者。这些基因是SYNGAP1(n=3)、KIAA2022(n=2)、SLC6A1(n=2)以及KCNNA2、SCN2A、STX1B、KCNB1和MECP2(各n=1)。此外,研究还分别在3例患者中分别鉴定了1个新的候选基因—ASH1L、CHD4和SMARCA2。研究发现,MAE与明显的神经发育障碍有关。MAE具有遗传异质性,通过外显子分析在14%的队列中确定了致病的遗传病因。这些发现表明MAE是几种病因的表现,而不是一个离散的综合征实体。 | Shan Tang Laura Addis Anna Smith 郭崇伦(译) 慕洁(审) | 2022 | 癫痫杂志2022，8，1： | 0 |
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