SimPEL: Simulation‐based power estimation for sequencing studies of low‐prevalence conditions

Power estimations are important for optimizing genotype‐phenotype association study designs. However, existing frameworks are designed for common disorders, and thus ill‐suited for the inherent challenges of studies for low‐prevalence conditions such as rare diseases and infrequent adverse drug reactions. These challenges include small sample sizes and the need to leverage genetic annotation resources in association analyses for the purpose of ranking potential causal genes. We present SimPEL, a simulation‐based program providing power estimations for the design of low‐prevalence condition studies. SimPEL integrates the usage of gene annotation resources for association analyses. Customizable parameters, including the penetrance of the putative causal allele and the employed pathogenic scoring system, allow SimPEL to realistically model a large range of study designs. To demonstrate the effects of various parameters on power, we estimated the power of several simulated designs using SimPEL and captured power trends in agreement with observations from current literature on low‐frequency condition studies. SimPEL, as a tool, provides researchers studying low‐frequency conditions with an intuitive and highly flexible avenue for statistical power estimation. The platform‐independent “batteries included” executable and default input files are available at https://github.com/precisionomics/SimPEL .     

Implementation of the redesigned Community Health Fund in the Dodoma region of Tanzania: A qualitative study of views from rural communities

The need to understand how an intervention is received by the beneficiary community is well recognised and particularly neglected in the micro–health insurance (MHI) domain. This study explored the views and reactions of the beneficiary community of the redesigned Community Health Fund (CHF) implemented in the Dodoma region of Tanzania. We collected data from focus group discussions with 24 groups of villagers (CHF members and nonmembers) and in‐depth interviews with 12 key informants (enrolment officers and health care workers). The transcribed material was analysed thematically. We found that participants highly appreciate the scheme, but to be resolved are the challenges posed by the implementation strategies adopted. The responses of the community were nested within a complex pathway relating to their interaction with the implementation strategies and their ongoing reflections regarding the benefits of the scheme. Community reactions ranged from accepting to rejecting the scheme, demanding the right to receive benefit packages once enrolled, and dropping out of the scheme when it failed to meet their expectations. Reported drivers of the responses included intensity of CHF communication activities, management of enrolment procedures, delivery of benefit packages, critical features of the scheme, and contextual factors (health system and socio‐political context). This study highlights that scheme design and implementation strategies that address people's needs, voices, and values can improve uptake of MHI interventions. The study adds to the knowledge base on implementing MHI initiatives and could promote interests in assessing the response to interventions within the MHI domain and beyond.     

The possibility of addressing epistemic injustice through engaged research practice: reflections on a menstruation related critical health education project in South Africa

Abstract

Questions of epistemic injustice in relation to community engagement activities have rarely been interrogated. While it is often purported that when academics and community members are involved in the co-creation of knowledge through a mutually beneficial exchange of resources and expertise, all participants emerge as active stakeholders in the knowledge production process, little research has been done on how academics or community partners experience these processes from an epistemological perspective. Does the proposed process of repositioning research participants in community engagement praxis allows for a new power dynamic to emerge in research such that all parties genuinely share equal responsibility for determining the processes and outcomes of the knowledge production process? Do such activities allow for an epistemological shift away from traditional knowledge construction paradigms to ones in which the democratisation of knowledge is prioritised? Does such an epistemological shift in the knowledge construction paradigm extend beyond simply the knowledge construction process to interpersonal relationships between academics and community members who see themselves as co-protagonists in a shared project? In grappling with these questions I will draw on my own, personal experiences working in a menstruation related engaged research critical health education project in South Africa, to discuss the complexities of whether and how the amelioration of epistemic injustices are being served through community engagement activities.     

胎盘早剥严重程度与处理时限对母婴妊娠结局的影响

目的分析胎盘早剥严重程度与处理时限对母婴妊娠结局的影响,为提高临床早期识别能力、早期实施干预提供科学参考。方法回顾性分析2014年1月-2017年2月该院收治的胎盘早剥患者48例,采集患者临床资料,根据中华医学会妇产科学分会制定的《胎盘早剥的临床诊断与处理规范(第一版)》分为轻度早剥组(35例)和重度早剥组(13例),分析胎盘早剥严重程度不同与处理时限对母婴妊娠结局的影响。结果两组患者在发病诱因方面比较,差异无统计学意义(P>0.05);首发临床症状方面:重度早剥组腹痛、胎心异常、阴道流血症状与轻度早剥组比较,差异有统计学意义(P<0.05);两组腰背痛、子宫张力过高、血性羊水等症状方面比较,差异无统计学意义(P>0.05);轻度早剥组彩超检出率为65.71%(23/35),重度早剥组彩超检出率为92.30%(12/13),差异有统计学意义(P<0.05);轻度早剥组首发临床症状至处理时限为(487.5±51.9)min,重度早剥组首发临床症状至处理时限为(122.9±31.7)min,差异有统计学意义(P<0.05);不良结局与早剥严重程度及处理时限的关系:重度早剥组妊娠不良结局发生率明显高于轻度早剥组(84.61%vs.51.43%),差异有统计学意义(χ~2=4.365,P<0.05);发生产后出血、弥散性血管内凝血(DIC)、胎盘卒中及新生儿死亡、窒息、死胎患者胎盘早剥处理时限明显长于无不良结局患者(P<0.05)。结论母婴妊娠结局与胎盘早剥严重程度及处理时限有关,早期有效的处理对于改善妊娠结局具有重要意义。