Pathogenic variant in SERPING1 gene causing autosomal dominant hereditary angioedema in early childhood.

A female in early childhood presented with 6 months of transient swelling of multiple areas of her body, often, but not always, associated with minor trauma. Labs drawn were significant for low C4, low CH50, low C1 esterase inhibitor (C1-INH) antigen and low C1-INH function, which is concerning for hereditary angioedema (HAE) with abnormal C1-INH. Genetic testing through the Invitae Hereditary Angioedema Panel revealed a variant in the SERPING1 gene, c.686-7C>G (Intronic), which was classified as a variant of unknown significance, but is likely pathogenic given patient's clinical presentation and recent functional proof of pathogenicity. HAE should be recognised in paediatric patients even without family history. Recognising the symptoms of HAE and confirming diagnosis in early childhood has become more important recently as the first prophylactic therapy, lanadelumab, was approved in February 2023 for long-term prophylaxis in early childhood, which can significantly improve morbidity and quality of life.

Comparison of a Prototype for Indications-Based Prescribing With 2 Commercial Prescribing Systems.

Importance: The indication (reason for use) for a medication is rarely included on prescriptions despite repeated recommendations to do so. One barrier has been the way existing electronic prescribing systems have been designed. Objective: To evaluate, in comparison with the prescribing modules of 2 leading electronic health record prescribing systems, the efficiency, error rate, and satisfaction with a new computerized provider order entry prototype for the outpatient setting that allows clinicians to initiate prescribing using the indication. Design, Setting, and Participants: This quality improvement study used usability tests requiring internal medicine physicians, residents, and physician assistants to enter prescriptions electronically, including indication, for 8 clinical scenarios. The tool order assignments were randomized and prescribers were asked to use the prototype for 4 of the scenarios and their usual system for the other 4. Time on task, number of clicks, and order details were captured. User satisfaction was measured using posttask ratings and a validated system usability scale. The study participants practiced in 2 health systems' outpatient practices. Usability tests were conducted between April and October of 2017. Main Outcomes and Measures: Usability (efficiency, error rate, and satisfaction) of indications-based computerized provider order entry prototype vs the electronic prescribing interface of 2 electronic health record vendors. Results: Thirty-two participants (17 attending physicians, 13 residents, and 2 physician assistants) used the prototype to complete 256 usability test scenarios. The mean (SD) time on task was 1.78 (1.17) minutes. For the 20 participants who used vendor 1's system, it took a mean (SD) of 3.37 (1.90) minutes to complete a prescription, and for the 12 participants using vendor 2's system, it took a mean (SD) of 2.93 (1.52) minutes. Across all scenarios, when comparing number of clicks, for those participants using the prototype and vendor 1, there was a statistically significant difference from the mean (SD) number of clicks needed (18.39 [12.62] vs 46.50 [27.29]; difference, 28.11; 95% CI, 21.47-34.75; P < .001). For those using the prototype and vendor 2, there was also a statistically significant difference in number of clicks (20.10 [11.52] vs 38.25 [19.77]; difference, 18.14; 95% CI, 11.59-24.70; P < .001). A blinded review of the order details revealed medication errors (eg, drug-allergy interactions) in 38 of 128 prescribing sessions using a vendor system vs 7 of 128 with the prototype. Conclusions and Relevance: Reengineering prescribing to start with the drug indication allowed indications to be captured in an easy and useful way, which may be associated with saved time and effort, reduced medication errors, and increased clinician satisfaction.

Development and evaluation of a novel user interface for reviewing clinical microbiology results.

Background: Microbiology laboratory results are complex and cumbersome to review. We sought to develop a new review tool to improve the ease and accuracy of microbiology results review. Methods: We observed and informally interviewed clinicians to determine areas in which existing microbiology review tools were lacking. We developed a new tool that reorganizes microbiology results by time and organism. We conducted a scenario-based usability evaluation to compare the new tool to existing legacy tools, using a balanced block design. Results: The average time-on-task decreased from 45.3 min for the legacy tools to 27.1 min for the new tool (P < .0001). Total errors decreased from 41 with the legacy tools to 19 with the new tool (P = .0068). The average Single Ease Question score was 5.65 (out of 7) for the new tool, compared to 3.78 for the legacy tools (P < .0001). The new tool scored 88 ("Excellent") on the System Usability Scale. Conclusions: The new tool substantially improved efficiency, accuracy, and usability. It was subsequently integrated into the electronic health record and rolled out system-wide. This project provides an example of how clinical and informatics teams can innovative alongside a commercial Electronic Health Record (EHR).

Incorporating medication indications into the prescribing process.

PURPOSE: The incorporation of medication indications into the prescribing process to improve patient safety is discussed. SUMMARY: Currently, most prescriptions lack a key piece of information needed for safe medication use: the patient-specific drug indication. Integrating indications could pave the way for safer prescribing in multiple ways, including avoiding look-alike/sound-alike errors, facilitating selection of drugs of choice, aiding in communication among the healthcare team, bolstering patient understanding and adherence, and organizing medication lists to facilitate medication reconciliation. Although strongly supported by pharmacists, multiple prior attempts to encourage prescribers to include the indication on prescriptions have not been successful. We convened 6 expert panels to consult high-level stakeholders on system design considerations and requirements necessary for building and implementing an indications-based computerized prescriber order-entry (CPOE) system. We summarize our findings from the 6 expert stakeholder panels, including rationale, literature findings, potential benefits, and challenges of incorporating indications into the prescribing process. Based on this stakeholder input, design requirements for a new CPOE interface and workflow have been identified. CONCLUSION: The emergence of universal electronic prescribing and content knowledge vendors has laid the groundwork for incorporating indications into the CPOE prescribing process. As medication prescribing moves in the direction of inclusion of the indication, it is imperative to design CPOE systems to efficiently and effectively incorporate indications into prescriber workflows and optimize ways this can best be accomplished.

Core Components for a Clinically Integrated mHealth App for Asthma Symptom Monitoring.

Background mHealth apps may be useful tools for supporting chronic disease management. Objective Our aim was to apply user-centered design principles to efficiently identify core components for an mHealth-based asthma symptom­monitoring intervention using patient-reported outcomes (PROs). Methods We iteratively combined principles of qualitative research, user-centered design, and "gamification" to understand patients' and providers' needs, develop and refine intervention components, develop prototypes, and create a usable mobile app to integrate with clinical workflows. We identified anticipated benefits and burdens for stakeholders. Results We conducted 19 individual design sessions with nine adult patients and seven clinicians from an academic medical center (some were included multiple times). We identified four core intervention components: (1) Invitation­patients are invited by their physicians. (2) Symptom checks­patients receive weekly five-item questionnaires via the app with 48 hours to respond. Depending on symptoms, patients may be given the option to request a call from a nurse or receive one automatically. (3) Patient review­in the app, patients can view their self-reported data graphically. (4) In-person visit­physicians have access to patient-reported symptoms in the electronic health record (EHR) where they can review them before in-person visits. As there is currently no location in the EHR where physicians would consistently notice these data, recording a recent note was the best option. Benefits to patients may include helping decide when to call their provider and facilitating shared decision making. Benefits to providers may include saving time discussing symptoms. Provider organizations may need to pay nurses extra, but those costs may be offset by reduced visits and hospitalizations. Conclusion Recent systematic reviews show inconsistent outcomes and little insight into functionalities required for mHealth asthma interventions, highlighting the need for systematic intervention design. We identified specific features for adoption and engagement that meet the stated needs of users for asthma symptom monitoring.