Usability survey of an inpatient electronic clinical communication platform at a large New Zealand tertiary hospital.

BACKGROUND: Internationally, there is significant published literature indicating low levels of clinical satisfaction with the digital electronic clinical record. Many New Zealand hospitals are currently undergoing a process of digitisation. The aim of the current study was to determine the usability of the inpatient clinical documentation and communication platform known as Cortex approximately one year after full deployment at Christchurch Hospital. METHODS: Te Whatu Ora - Health New Zealand Waitaha Canterbury staff were invited via their work email to complete an online questionnaire. It was comprised of the System Usability Scale (SUS) survey (industry standard mean scores: 50-69 marginal, and ≥70 acceptable) and one additional question about the participant's clinical profession within the organisation. RESULTS: A total of 144 responses were received during the study period. The median SUS score was 75 with an interquartile range (IQR) of 60-87.5. The median IQR SUS scores did not significantly differ among the different occupation groups: 78 (65-90) for doctors; 70 (57.5-82.5) for nurses; and 73 (55.6-84.4) for allied health staff (p=0.268). Additionally, 70 qualitative responses were recorded. Three themes were identified through the analysis of the participants' responses. These were: the need for integration with other electronic systems; implementation issues; and fine-tuning the functionality of Cortex. CONCLUSIONS: The current study revealed good usability of Cortex. The user experience was equivalent among the various professions of the study's participants (doctors, nurses, and allied health staff). The present study provides a useful benchmark for Cortex at a point-of-time, and it sets up potential to periodically repeat this survey to see how new functionality has added to (or detracted from) its usability.

Mutational profiling in suspected triple-negative essential thrombocythaemia using targeted next-generation sequencing in a real-world cohort.

Essential thrombocythaemia (ET) is driven by somatic mutations involving the JAK2, CALR and MPL genes. Approximately 10% of patients lack driver mutations and are referred as 'triple-negative' ET (TN-ET). The diagnosis of TN-ET, however, relies on bone marrow examination that is not always performed in routine practice, and thus in the real-world setting, there are a group of cases with suspected TN-myeloproliferativeneoplasm.In this real-world cohort, patients with suspected TN-ET were initially rescreened for JAK2, CALR and MPL and then targeted next-generation sequencing (NGS) was applied.The 35 patients with suspected TN-ET had a median age at diagnosis of 43 years (range 16-79) and a follow-up of 10 years (range 2-28). The median platelet count was 758×109/L (range 479-2903). Thrombosis prior to and following diagnosis was noted in 20% and 17% of patients. Six patients were JAK2V617F and two patients were CALR positive on repeat screening. NGS results showed that 24 of 27 patients harboured no mutations. Four mutations were noted in three patients.There was no evidence of clonality for the majority of patients with suspected TN-ET with targeted NGS analysis. Detection of driver mutations in those who were previously screened suggests that regular rescreening is required. This study also questions the diagnosis of TN-ET without the existence of a clonal marker.

Infectious Disease Transmission in Solid Organ Transplantation: Donor Evaluation, Recipient Risk, and Outcomes of Transmission.

In 2016, the Transplantation Society of Australia and New Zealand, with the support of the Australian Government Organ and Tissue authority, commissioned a literature review on the topic of infectious disease transmission from deceased donors to recipients of solid organ transplants. The purpose of this review was to synthesize evidence on transmission risks, diagnostic test characteristics, and recipient management to inform best-practice clinical guidelines. The final review, presented as a special supplement in Transplantation Direct, collates case reports of transmission events and other peer-reviewed literature, and summarizes current (as of June 2017) international guidelines on donor screening and recipient management. Of particular interest at the time of writing was how to maximize utilization of donors at increased risk for transmission of human immunodeficiency virus, hepatitis C virus, and hepatitis B virus, given the recent developments, including the availability of direct-acting antivirals for hepatitis C virus and improvements in donor screening technologies. The review also covers emerging risks associated with recent epidemics (eg, Zika virus) and the risk of transmission of nonendemic pathogens related to donor travel history or country of origin. Lastly, the implications for recipient consent of expanded utilization of donors at increased risk of blood-borne viral disease transmission are considered.

Developing Consensus-Based Priority Outcome Domains for Trials in Kidney Transplantation: A Multinational Delphi Survey With Patients, Caregivers, and Health Professionals.

BACKGROUND: Inconsistencies in outcome reporting and frequent omission of patient-centered outcomes can diminish the value of trials in treatment decision making. We identified critically important outcome domains in kidney transplantation based on the shared priorities of patients/caregivers and health professionals. METHODS: In a 3-round Delphi survey, patients/caregivers and health professionals rated the importance of outcome domains for trials in kidney transplantation on a 9-point Likert scale and provided comments. During rounds 2 and 3, participants rerated the outcomes after reviewing their own score, the distribution of the respondents' scores, and comments. We calculated the median, mean, and proportion rating 7 to 9 (critically important), and analyzed comments thematically. RESULTS: One thousand eighteen participants (461 [45%] patients/caregivers and 557 [55%] health professionals) from 79 countries completed round 1, and 779 (77%) completed round 3. The top 8 outcomes that met the consensus criteria in round 3 (mean, ≥7.5; median, ≥8; proportion, >85%) in both groups were graft loss, graft function, chronic rejection, acute rejection, mortality, infection, cancer (excluding skin), and cardiovascular disease. Compared with health professionals, patients/caregivers gave higher priority to 6 outcomes (mean difference of 0.5 or more): skin cancer, surgical complications, cognition, blood pressure, depression, and ability to work. We identified 5 themes: capacity to control and inevitability, personal relevance, debilitating repercussions, gaining awareness of risks, and addressing knowledge gaps. CONCLUSIONS: Graft complications and severe comorbidities were critically important for both stakeholder groups. These stakeholder-prioritized outcomes will inform the core outcome set to improve the consistency and relevance of trials in kidney transplantation.

Myeloproliferative neoplasm with ETV6-ABL1 fusion: a case report and literature review.

ETV6-ABL1 is a rare gene fusion with oncogenic properties, reported so far in 28 patients presenting a variety of haematological malignancies associated with clinical outcome, including chronic myeloid leukaemia (CML), acute myeloid leukaemia (AML), acute lymphoblastic leukaemia (ALL) and chronic myeloproliferative neoplasm (cMPN). Here we report on a 46-year-old female who presented with Philadelphia negative CML, positive for the ETV6-ABL1 fusion. Whole genome screening carried out with oligonucleotide arrays showed a subtle loss at 12p13 and cryptic imbalances within the 9q34.3 region in a highly unstable genome. FISH mapping with custom BAC probes identified two breakpoints 5 Mb apart within the 9q34 region, together with a break at 12p13. While FISH with commercial BCR-ABL1 probes failed to detect any ABL1 changes, the ETV6 break-apart probe conclusively identified the ETV6-ABL1 fusion thus determining the probe's role as the primary diagnostic FISH test for this chimeric oncogene. In addition, we confirm the association of the ETV6-ABL1 fusion with imatinib resistance reported so far in three other patients, while recording excellent response to the 2nd generation tyrosine kinase inhibitor (TKI) nilotinib. In summary, we highlight the value of ETV6 FISH as a diagnostic test and the therapy resistance of ETV6-ABL1 positive disorders to imatinib.

Impact of isolated germline JAK2V617I mutation on human hematopoiesis.

The association between somatic JAK2 mutation and myeloproliferative neoplasms (MPNs) is now well established. However, because JAK2 mutations are associated with heterogeneous clinical phenotypes and often occur as secondary genetic events, some aspects of JAK2 mutation biology remain to be understood. We recently described a germline JAK2V617I mutation in a family with hereditary thrombocytosis and herein characterize the hematopoietic and signaling impact of JAK2V617I. Through targeted sequencing of MPN-associated mutations, exome sequencing, and clonality analysis, we demonstrate that JAK2V617I is likely to be the sole driver mutation in JAK2V617I-positive individuals with thrombocytosis. Phenotypic hematopoietic stem cells (HSCs) were increased in the blood and bone marrow of JAK2V617I-positive individuals and were sustained at higher levels than controls after xenotransplantation. In signaling and transcriptional assays, JAK2V617I demonstrated more activity than wild-type JAK2 but substantially less than JAK2V617F. After cytokine stimulation, JAK2V617I resulted in markedly increased downstream signaling compared with wild-type JAK2 and comparable with JAK2V617F. These findings demonstrate that JAK2V617I induces sufficient cytokine hyperresponsiveness in the absence of other molecular events to induce a homogeneous MPN-like phenotype. We also provide evidence that the JAK2V617I mutation may expand the HSC pool, providing insights into both JAK2 mutation biology and MPN disease pathogenesis.

A case of pityriasis rubra pilaris associated with membranous nephropathy.

Pityriasis rubra pilaris (PRP) is a rare idiopathic dermatosis which may be associated with autoimmune diseases, HIV infection, and internal malignancies. Its association with renal diseases is, however, much less recognized. We report a case of PRP with associated membranous nephropathy (MN), which resolved spontaneously with resolution of the dermatosis. This is only the second reported association between PRP and MN of which we are aware. Further reports of such an association will strengthen the evidence for the two conditions being linked and may thereby shed light on the pathogenesis of both PRP and MN.

"It was just an unconditional gift." Self reflections of non-directed living kidney donors.

Non-directed living kidney donation is an important emerging type of donation, but there are concerns about ulterior motives and irrational decision-making. This study aimed to elicit the motivations and experiences of non-directed living kidney donors. Qualitative interviews were conducted with all 18 people who donated a kidney in the transplant unit of the South Island, New Zealand. Six major themes were identified: offering the chance of life (opportunity for normalcy in the recipient, good samaritanism), determination (resolute personal decision, rooted in stability, urgency, opportuneness), minimizing perceived risks (live with one kidney, trust in the medical system, physical and genetic resilience, taking chances, mental preparation, mild inconvenience), preserving anonymity (protecting donor anonymity, respecting recipient choice, receiving appreciation, knowing recipient outcomes, developing relationships), donor support (psychologic preparation, efficient coordination, reimbursement of expenses), and gaining benefits (improved fitness, empowerment and satisfaction, connectedness). Non-directed living kidney donors want to offer someone a chance of normal life; a decision driven by resoluteness and a sense of urgency. Kidney donation is perceived to offer improved fitness, and a sense of empowerment, satisfaction, and connectedness. Reluctance to consider non-directed donation programs solely on concerns of unrealistic or ill-motivations and potential feelings of donor regret appear unwarranted.

Case 30: hypereosinophilia.

A young man presented with systemic symptoms and marked eosinophilia. Subsequently cyclical weight gain and edema contributed to a diagnosis.