Malawi's maternal and Child Health policies : analysis, lessons and strategies for addressing gaps

Includes abstract. Includes bibliographical references (p. 229-237)

Does identity shape leadership and management practice? Experiences of PHC facility managers in Cape Town, South Africa.

In South Africa, as elsewhere, Primary Health Care (PHC) facilities are managed by professional nurses. Little is known about the dimensions and challenges of their job, or what influences their managerial practice. Drawing on leadership and organizational theory, this study explored what the job of being a PHC manager entails, and what factors influence their managerial practice. We specifically considered whether the appointment of professional nurses as facility managers leads to an identity transition, from nurse to manager. The overall intention was to generate ideas about how to support leadership development among PHC facility managers. Adopting case study methodology, the primary researcher facilitated in-depth discussions (about their personal history and managerial experiences) with eight participating facility managers from one geographical area. Other data were collected through in-depth interviews with key informants, document review and researcher field notes/journaling. Analysis involved data triangulation, respondent and peer review and cross-case analysis. The experiences show that the PHC facility manager's job is dominated by a range of tasks and procedures focused on clinical service management, but is expected to encompass action to address the population and public health needs of the surrounding community. Managing with and through others, and in a complex system, requiring self-management, are critical aspects of the job. A range of personal, professional and contextual factors influence managerial practice, including professional identity. The current largely facility-focused management practice reflects the strong nursing identity of managers and broader organizational influences. However, three of the eight managers appear to self-identify an emerging leadership identity and demonstrate related managerial practices. Nonetheless, there is currently limited support for an identity transition towards leadership in this context. Better support for leadership development could include talent-spotting and nurturing, induction and peer-mentoring for newly appointed facility managers, ongoing peer-support once in post and continuous reflective practice

Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome

Metachondromatosis (MC) is a rare, autosomal dominant, incompletely penetrant combined exostosis and enchondromatosis tumor syndrome. MC is clinically distinct from other multiple exostosis or multiple enchondromatosis syndromes and is unlinked to EXT1 and EXT2, the genes responsible for autosomal dominant multiple osteochondromas (MO). To identify a gene for MC, we performed linkage analysis with high-density SNP arrays in a single family, used a targeted array to capture exons and promoter sequences from the linked interval in 16 participants from 11 MC families, and sequenced the captured DNA using high-throughput parallel sequencing technologies. DNA capture and parallel sequencing identified heterozygous putative loss-of-function mutations in PTPN11 in 4 of the 11 families. Sanger sequence analysis of PTPN11 coding regions in a total of 17 MC families identified mutations in 10 of them (5 frameshift, 2 nonsense, and 3 splice-site mutations). Copy number analysis of sequencing reads from a second targeted capture that included the entire PTPN11 gene identified an additional family with a 15 kb deletion spanning exon 7 of PTPN11. Microdissected MC lesions from two patients with PTPN11 mutations demonstrated loss-of-heterozygosity for the wild-type allele. We next sequenced PTPN11 in DNA samples from 54 patients with the multiple enchondromatosis disorders Ollier disease or Maffucci syndrome, but found no coding sequence PTPN11 mutations. We conclude that heterozygous loss-of-function mutations in PTPN11 are a frequent cause of MC, that lesions in patients with MC appear to arise following a “second hit,” that MC may be locus heterogeneous since 1 familial and 5 sporadically occurring cases lacked obvious disease-causing PTPN11 mutations, and that PTPN11 mutations are not a common cause of Ollier disease or Maffucci syndrome

Characterising illness stages and recovery trajectories of eating disorders in young people via remote measurement technology (STORY):A multi-centre prospective cohort study protocol

Background: Eating disorders (EDs) are serious, often chronic, conditions associated with pronounced morbidity, mortality, and dysfunction increasingly affecting young people worldwide. Illness progression, stages and recovery trajectories of EDs are still poorly characterised. The STORY study dynamically and longitudinally assesses young people with different EDs (restricting; bingeing/bulimic presentations) and illness durations (earlier; later stages) compared to healthy controls. Remote measurement technology (RMT) with active and passive sensing is used to advance understanding of the heterogeneity of earlier and more progressed clinical presentations and predictors of recovery or relapse. Methods: STORY follows 720 young people aged 16–25 with EDs and 120 healthy controls for 12 months. Online self-report questionnaires regularly assess ED symptoms, psychiatric comorbidities, quality of life, and socioeconomic environment. Additional ongoing monitoring using multi-parametric RMT via smartphones and wearable smart rings (‘Ōura ring’) unobtrusively measures individuals’ daily behaviour and physiology (e.g., Bluetooth connections, sleep, autonomic arousal). A subgroup of participants completes additional in-person cognitive and neuroimaging assessments at study-baseline and after 12 months. Discussion: By leveraging these large-scale longitudinal data from participants across ED diagnoses and illness durations, the STORY study seeks to elucidate potential biopsychosocial predictors of outcome, their interplay with developmental and socioemotional changes, and barriers and facilitators of recovery. STORY holds the promise of providing actionable findings that can be translated into clinical practice by informing the development of both early intervention and personalised treatment that is tailored to illness stage and individual circumstances, ultimately disrupting the long-term burden of EDs on individuals and their families.</p

Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

Oral–facial–digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others) to delineate a growing list of OFDS subtypes. The most frequent, OFD type I, is caused by a heterozygous mutation in the OFD1 gene encoding a centrosomal protein. The wide clinical heterogeneity of OFDS suggests the involvement of other ciliary genes. For 15 years, we have aimed to identify the molecular bases of OFDS. This effort has been greatly helped by the recent development of whole-exome sequencing (WES). Here, we present all our published and unpublished results for WES in 24 cases with OFDS. We identified causal variants in five new genes (C2CD3, TMEM107, INTU, KIAA0753 and IFT57) and related the clinical spectrum of four genes in other ciliopathies (C5orf42, TMEM138, TMEM231 and WDPCP) to OFDS. Mutations were also detected in two genes previously implicated in OFDS. Functional studies revealed the involvement of centriole elongation, transition zone and intraflagellar transport defects in OFDS, thus characterising three ciliary protein modules: the complex KIAA0753-FOPNL-OFD1, a regulator of centriole elongation; the Meckel-Gruber syndrome module, a major component of the transition zone; and the CPLANE complex necessary for IFT-A assembly. OFDS now appear to be a distinct subgroup of ciliopathies with wide heterogeneity, which makes the initial classification obsolete. A clinical classification restricted to the three frequent/well-delineated subtypes could be proposed, and for patients who do not fit one of these three main subtypes, a further classification could be based on the genotype

Analysis of maternal and child health policies in Malawi: The methodological perspective

© 2015, Malawi Medical Journal. All rights reserved. The question of why most health policies do not achieve their intended results continues to receive a considerable attention in the literature. This is in the light of the recognized gap between policy as intent and policy as practice, which calls for substantial research work to understand the factors that improve policy implementation. Although there is substantial work that explains the reasons why policies achieve or fail to achieve their intended outcomes, there are limited case studies that illustrate how to analyze policies from the methodological perspective. In this article, we report and discuss how a mixed qualitative research method was applied for analyzing maternal and child health policies in Malawi. For the purposes of this article, we do not report research findings; instead we focus our dicussion on the methodology of the study and draw lessons for policy analysis research work. We base our disusssion on our experiences from a study in which we analyzed maternal and child health policies in Malawi over the period from 1964 to 2008. Noting the multifaceted nature of maternal and child health policies, we adopted a mixed qualitative research method, whereby a number of data collection methods were employed. This approach allowed for the capturing of different perspectives of maternal and child health policies in Malawi and for strengthening of the weaknesses of each method, especially in terms of data validity. This research suggested that the multidimensional nature of maternal and child health policies, like other health policies, calls for a combination of research designs as well as a variety of methods of data collection and analysis. In addition, we suggest that, as an emerging research field, health policy analysis will benefit more from case study designs because they provide rich experiences in the actual policy context

Political priority for abortion law reform in malawi: Transnational and national influences

© 2018 Daire, Kloster, and Storeng. In July 2015, Malawi’s Special Law Commission on the Review of the Law on Abortion released a draft Termination of Pregnancy bill. If approved by Parliament, it will liberalize Malawi’s strict abortion law, expanding the grounds for safe abortion and representing an important step toward safer abortion in Malawi. Drawing on prospective policy analysis (2013–2017), we identify factors that helped generate political will to address unsafe abortion. Notably, we show that transnational influences and domestic advocacy converged to make unsafe abortion a political issue in Malawi and to make abortion law reform a possibility. Since the 1980s, international actors have promoted global norms and provided financial and technical resources to advance ideas about women’s reproductive health and rights and to support research on unsafe abortion. Meanwhile, domestic coalitions of actors and policy champions have mobilized new national evidence on the magnitude, costs, and public health impacts of unsafe abortion, framing action on unsafe abortion as part of a broader imperative to address Malawi’s high level of maternal mortality. Although these efforts have generated substantial support for abortion law reform, an ongoing backlash from the international anti-choice movement has gained momentum by appealing to religious and nationalist values. Passage of the bill also antagonizes the United States’ development work in Malawi due to US policies prohibiting the funding of safe abortion. This threatens existing political will and renders the outcome of the legal review uncertain

Barriers and facilitators to diabetic retinopathy screening within Australian primary care

Background Despite recent incentives through Medicare (Australia’s universal health insurance scheme) to increase retinal screening rates in primary care, comprehensive diabetic retinopathy (DR) screening has not been reached in Australia. The current study aimed to identify key factors affecting the delivery of diabetic retinopathy (DR) screening in Australian general practices. Methods A descriptive qualitative study involving in-depth interviews was carried out from November 2019 to March 2020. Using purposive snowballing sampling, 15 general practitioners (GPs) were recruited from urban and rural general practices in New South Wales and Western Australia. A semi-structured interview guide was used to collect data from participants. All interviews were conducted over the phone by one facilitator, and each interview lasted up to 45 min. The Socio-Ecological Model was used to inform the content of the interview topic guides and subsequent data analysis. Recorded data were transcribed verbatim, and thematic analysis was conducted to identify and classify recurrent themes. Results Of 15 GPs interviewed, 13 were male doctors, and the mean age was 54.7 ± 15.5 years. Seven participants were practising in urban areas, while eight were practising in regional or remote areas. All participants had access to a direct ophthalmoscope, but none owned retinal cameras. None of the participants reported performing DR screening. Only three participants were aware of the Medicare Benefits Schedule (MBS) items 12,325 and 12,326 that allow GPs to bill for retinal screening. Seven themes, a combination of facilitators and barriers, emerged from interviews with the GPs. Despite the strong belief in their role in managing chronic diseases, barriers such as costs of retinal cameras, time constraints, lack of skills to make DR diagnosis, and unawareness of Medicare incentives for non-mydriatic retinal photography made it difficult to conduct DR screening in general practice. However, several enabling strategies to deliver DR screening within primary care include increasing GPs’ access to continuing professional development, subsidising the cost of retinal cameras, and the need for a champion ace to take the responsibility of retinal photography. Conclusion This study identified essential areas at the system level that require addressing to promote the broader implementation of DR screening, in particular, a nationwide awareness campaign to maximise the use of MBS items, improve GPs’ competency, and subsidise costs of the retinal cameras for small and rural general practices

Elements of Morphology: Standard Terminology for the Nose and Philtrum

An international group of clinicians working in the field of dysmorphology has initiated the standardization of terms used to describe human morphology. The goals are to standardize these terms and reach consensus regarding their definitions. In this way, we will increase the utility of descriptions of the human phenotype and facilitate reliable comparisons of findings among patients. Discussions with other workers in dysmorphology and related fields, such as developmental biology and molecular genetics, will become more precise. Here we introduce the anatomy of the nose and philtrum, and define and illustrate the terms that describe the major characteristics of these study regions. (C) 2009 Wiley-Liss In

Behind the scenes: International NGOs’ influence on reproductive health policy in Malawi and South Sudan

© 2018 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group Global health donors increasingly embrace international non-governmental organisations (INGOs) as partners, often relying on them to conduct political advocacy in recipient countries, especially in controversial policy domains like reproductive health. Although INGOs are the primary recipients of donor funding, they are expected to work through national affiliates or counterparts to enable ‘locally-led’ change. Using prospective policy analysis and ethnographic evidence, this paper examines how donor-funded INGOs have influenced the restrictive policy environments for safe abortion and family planning in South Sudan and Malawi. While external actors themselves emphasise the technical nature of their involvement, the paper analyses them as instrumental political actors who strategically broker alliances and resources to shape policy, often working ‘behind the scenes’ to manage the challenging circumstances they operate under. Consequently, their agency and power are hidden through various practices of effacement or concealment. These practices may be necessary to rationalise the tensions inherent in delivering a global programme with the goal of inducing locally-led change in a highly controversial policy domain, but they also risk inciting suspicion and foreign-national tensions