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Background. The diagnosis and prognostication of myeloproliferative neoplasm rely on the presence of driver mutations in JAK2, calreticulin (CALR), and MPL mutations. In the past, the presence of these mutations was thought to be mutually exclusive. Since then, there have been multiple reports of the presence of dual mutations. The presence of all three driver mutations in the same patient with myelofibrosis has not been previously described. Case. A 73-year-old female underwent a hematological workup in our facility after a routine hemogram performed prior to complex ophthalmological surgery revealed severe thrombocytosis. A comprehensive workup including an NGS panel for MPN driver mutations demonstrated that she had a calreticulin type-1 mutation, a JAK2 exon 14 (JAK2L611S) mutation, and an abnormal hotspot variant for MPL with VAF1%. A bone marrow biopsy confirmed a myeloproliferative neoplasm with grade 2 reticulin fibrosis suggesting primary myelofibrosis. Molecular profiling of bone marrow confirmed the previously noted mutations and an MPLW515R mutation. The patient was started on treatment with hydroxyurea and aspirin with improvement in platelet count and resolution of anemia. Discussion. The clinical significance of the presence of multiple driver mutations in the same patient is not well understood at this time. There have been 11 publications between 2014 and 2020 that have described dual mutations of JAK2V617F, MPL, and CALR mutations. The JAK2 exon 14 mutation noted, in this case, is JAK2L611S which has not previously been reported in MPN and only reported in 5 cases in the COSMIC database. The JAK2 exon 14 mutation identified in this case is not an established driver mutation for myeloproliferative neoplasm, and its clinical implication remains unknown. Conclusions. The above case in addition to recent case reports and case series supports the use of broader NGS sequencing panels for diagnosis and prognostication of MPN. These mutations should not be considered mutually exclusive. The clinical behavior and prognosis of the subgroup with multiple mutations need to be studied in larger series.

Purpose To perform mutational screening of the visual system homeobox gene 1 ( VSX1 ; MIM#605020) in patients with sporadic and familial keratoconus (MIM#148300) in a European population and, for the first time, report the mutational analysis of the two newly identified VSX1 exons. Methods VSX1 sequence variants in patients with keratoconus were evaluated by direct sequencing of the entire coding region, including two novel exons. In familial keratoconus cases, segregation of potentially pathogenic VSX1 variants was assessed to determine pathogenicity. Transcript analysis was carried out on splice site and synonymous sequence variants not detected in controls. Results A total of 66 unrelated patients with keratoconus from the European population (27 with familial keratoconus; 39 with sporadic keratoconus) were analysed for VSX1 mutations. Four sequence variants were not observed in 100 healthy control individuals: c.432C>G (p.D144E), c.479G>A (p.G160D), c.789C>T (p.S263S), and an intronic change c.844-13T>A (numbered with respect to NM_014588). Segregation was not detected for p.D144E and c.844-13T>A. The change in p.G160D was observedin two patients with sporadic keratoconus. Although predicted to alter VSX1 splicing, p.S263S had no effect on transcript processing. Four known SNPs were detected and the following polymorphic variants were observed in keratoconus patients and controls: c.711T>A (NM_199425; p.P237P), c.844-5_-6insT (NM_014588), c. * 28G>T (DQ854811/DQ854812), and c. * 50G>A (DQ854809/DQ854810). Conclusions VSX1 has a minor role in keratoconus pathogenesis. The pathogenicity of p.G160D remains controversial and this change may represent a rare polymorphism or genetic modifier. Further evidence is provided that the previously reported variant, p.D144E, is a polymorphism.

PurposeThis paper aims to share reflections on a collaborative researcher development initiative in Malaysia – the Borneo Research Education Conference (BREC) series. Although the immediate focus is on graduate students, the intention is to trigger wider discussions of researcher development theory in the context of policy and practice in the region.Design/methodology/approachThe paper takes a reflection-on-action approach, reflecting on experience and sharing the lessons learned in a variety of contexts is vital for the development of this emerging field.FindingsIntroducing researcher development programs requires careful consideration of the social, institutional and practical contexts in which it takes place. Although transformation of the field is a long-term process, this process can start with small intentional practices.Research limitations/implicationsThe analyses and recommendations arising from the BREC experience are context-specific and therefore cannot be generalised. However, the paper offers guidance for other researcher development initiatives, especially in contexts where the field is not well established.Practical implicationsDeliberately designed practices, such as including a broad range of researchers and creating a safe space for active engagement in developmental activities, can have a positive impact on participant’s researcher identities, self-confidence and sense of belonging.Social implicationsPolicymakers are encouraged to consider a more inclusive notion of researcher development, focussing both on the product and the process of doctoral education.Originality/valueDocumenting and sharing reflections of a researcher development initiative in a “developing country” context allows for the comparing and contrasting of experiences in other settings.

With this article we introduce a new article category in the journal, as announced in this issue's editorial--Viewpoints & Discussion. Articles under this category are intended to provide authentic and qualified opinions on topics relevant to the journal. These articles and follow-up discussions will pass through an accelerated, mainly editorial, review process. We invite readers to respond to such articles by sharing their personal thoughts and experiences, as well as to initiate new discussions. We hope these contributions will make the journal a site for lively discussions on research practice. For this first \"Viewpoint\" we have selected a topic that should be of interest to many readers: What key research competencies will researchers and professionals need to have in the future? To introduce the topic, we look into a recent comparative study on this question that compares the situation in eight research-intensive countries. Reports on the study are available for free download, which can serve as a basis for discussion. In keeping with the idea of \"Viewpoints & Discussion,\" no claim to offering a systematic and scholarly account of the topic is intended; the only aim is to throw a spotlight on a theme of current interest and to suggest a few pertinent conjectures and questions for discussion.

Some of the academic debates pertaining to action research have been identified and specified in this paper. These have been traced through the history of development of alternative (action-oriented) research thinking in a number of research areas, namely, the study of human relations, social and organizational studies, educational change, policy studies, psychology, geography, and physics. A number of prevailing approaches to what is generally referred to as action research have been described in a variety of application domains to identify the present home of the current debates in action research as well as the participants in these debates. This excursion has yielded a number of insights pertaining to the problems that constitute the core of the current debates in action research. Some of the proposed solutions available in these debates have been critically examined. A number of open issues have been identified. A speculative section relates the possible futures of action research to possible ways of dealing with these open issues. [PUBLICATION ABSTRACT]

Following the integration of artistic disciplines within the university, artists have been challenged to review their practice in academic terms. This has become a vigorous epicentre of debates concerning the nature of research in the artistic disciplines. The special issue \"On Reflecting and Making in Artistic Research Practice\" captures some of this debate. This editorial article presents a broad-brush outline of the debates raging in the artistic disciplines and presents three discernible trends in those debates. The trends highlight different core questions: (1) Art as research: Can artistic practice represent forms of inquiry acceptable within academic settings? (2) Academically-attuned practice-led research: Can art practice and research practice cooperate as equal partners within the university context? (3) Artistic research: Can the academic notion of research be extended to include the unique results possible through artistic research? The articles in the special issue offer a discussable overview of the current stage in the development of artistic research, demonstrating how creative practice and research practice can come together.

This paper examines some of the contributions of Gerard de Zeeuw to scholarship in general and to the study of multi‐agent contexts in particular. His general contribution to scholarship revolves around the notions of research and improvement of action. In de Zeeuw's scholarly writings, research has been viewed as a developing narrative. As the practice of research expands in any field, it comes in contact with greater and greater variety of disturbances and this creates a strain on the basic script on which the narrative of research in that field is based. This can lead to a narrative break‐off. However, sometimes the script can be so modified as to restore the flow of the narrative, until another period of strain is experienced. Such a narrative break‐off is evident in the so‐called applied disciplines where researchers cannot ignore the influence of various agents while seeking to bring about improvements in a practical context. Here, the context of research becomes a multi‐agent context, where multiple viewpoints and frameworks intercede in the process of creation of various effects. The paper describes the kind of response developed in the work of de Zeeuw to deal with the task of improving co‐ordination in multi‐agent contexts. Copyright © 2002 John Wiley & Sons, Ltd.

Purpose - This paper sets out to provide arguments and examples supporting the idea that some \"wicked\" design problems may be usefully approached through the process of bringing forth a self-observing collective, i.e. a community of observers capable of generating and dynamically adjusting a collective standpoint from where new observations can be made. Design/methodology/approach - Interactions within a community of observers can be designed to generate a collective standpoint from where new observations can be made and fed back to the interacting observers, thus ensuring that the collective standpoint also extends the observers' capacity to observe. Instances of this process are discussed to demonstrate its contribution towards dealing with some wicked design problems. Findings - The paper suggests that one's capacity to observe, feel, reflect, communicate, and act can be systematically harnessed in a self-observing collective in order to strengthen each member in the face of complex and unstructured problem situations. However, the continued success of the process depends on the effective construction and dynamic maintenance of the collective standpoint that gives the self-observing collective its unique power. Originality/value - The paper borrows certain insights from second-order cybernetics to suggest a way of dealing with ill-structured (and wicked) design problems by facilitating a process of interaction within a community of observers who must be enabled to live with the wickedness of the problem with minimum harm.

Purpose - The purpose of this paper is to offer a provisional framework for researcher development in contexts where postgraduate research education is developing. Design/methodology/approach - This is a reflective essay. The author draws out lessons from his research education initiatives in India and Malaysia spread over a decade (2003-2013). The lessons are based on favourable and unfavourable processes which affected those initiatives. The processes are then synthesised in two stages, to arrive at a provisional framework. Findings - The framework is presented as a cyclical process blending five focal themes: identity, connections, network, skills and roles. Implementing such a process would require sustained institutional collaboration and a supportive policy environment. Research limitations/implications - Given the limited experiential basis of this reflective exercise, the framework should be considered provisional in nature. There is a need to discuss and assess the framework in other contexts. Social implications - Countries such as India and Malaysia have set ambitious targets for doctoral completion. Well-endowed scholarships have been put in place. However, doctoral programmes are still not yet widely popular. A need exists to direct policy debates towards the kinds of researchers needed and how to develop those kinds of researchers. Originality/value - The paper presents a first-hand reflective account of the opportunities and constraints of research education in India and Malaysia. The exercise has produced a provisional framework for researcher development that could be adapted and assessed in other contexts.