Inform Clinical Decision-making Research Articles

The experiences and perspectives of people with gout on urate self-monitoring.

Gout management remains suboptimal despite safe and effective urate-lowering therapy. Self-monitoring of urate may improve gout management, however, the acceptability of urate self-monitoring by people with gout is unknown. The aim of this study was to explore the experiences of urate self-monitoring in people with gout. Semistructured interviews were conducted with people taking urate-lowering therapy (N = 30) in a 12-month trial of urate self-monitoring in rural and urban Australia. Interviews covered the experience of monitoring and its effect on gout self-management. Deidentified transcripts were analysed thematically. Participants valued the ability to self-monitor and gain more understanding of urate control compared with the annual monitoring ordered by their doctors. Participants indicated that self-monitoring at home was easy, convenientand informed gout self-management behaviours such as dietary modifications, hydration, exerciseand medication routines. Many participants self-monitored to understand urate concentration changes in response to feeling a gout flare was imminent or whether their behaviours, for example, alcohol intake, increased the risk of a gout flare. Urate concentrations were shared with doctors mainly when they were above target to seek management support, and this led to allopurinol dose increases in some cases. Urate self-monitoring was viewed by people with gout as convenient and useful for independent management of gout. They believed self-monitoring achieved better gout control with a less restricted lifestyle. Urate data was shared with doctors at the patient's discretion and helped inform clinical decisions, such as allopurinol dose changes. Further research on implementing urate self-monitoring in routine care would enable an evaluation of its impact on medication adherence and clinical outcomes, as well as inform gout management guidelines. One person with gout, who was not a participant, was involved in the study design by providing feedback and pilot testing the semistructured interview guide. In response to their feedback, subsequent modifications to the interview guide were made to improve the understandability of the questions from a patient perspective. No additional questions were suggested.

Impact of lactate/albumin ratio on prognostic outcomes in patients with concomitant heart failure and chronic kidney disease.

Previous studies have linked the lactate/albumin (L/A) ratio to poor outcomes in various conditions, but its connection to mortality in patients with both heart failure (HF) and chronic kidney disease (CKD) remains unclear. Using data from 1537 patients in MIMIC-IV, this study examined the relationship between L/A ratio and in-hospital and one-year mortality, employing Cox models, Kaplan-Meier (KM) analysis, and restricted cubic splines (RCS). The non-survivor group showed higher L/A ratios than survivors (1.04 ± 0.78 vs. 0.58 ± 0.29, p < 0.001), indicating a significant link between higher L/A ratios and mortality. Cox analysis identified the L/A ratio was significantly related to all-cause mortality both in-hospital (HR 2.033; 95% CI 1.576-2.624; p < 0.001) and one-year (HR 1.723; 95% CI 1.428-2.078; p < 0.001). The association between L/A ratio and mortality was non-linear and increasing. The KM survival curves demonstrated significantly poorer survival outcomes for the high L/A group compared to the low L/A group, a difference that was statistically validated by a significant log-rank test (log-rank p < 0.001). L/A ratio has a significant association with poor prognosis in patients with HF and CKD patients in a critical condition. This finding demonstrates that L/A ratio might be useful in identifying patients with HF and CKD at high risk of all-cause death. Further large-scale prospective studies are needed to verify these results and inform clinical decisions.

#2370 Creatinine, cystatin C, muscle mass, and mortality: findings from a primary and replication population-based cohort

Abstract Background and Aims Creatinine measures are used as initial test to derive eGFR and confirmatory testing with circulating cystatin C is recommended when creatinine-based eGFR is considered less accurate due to deviant muscle mass. Low muscle mass is associated with increased risk of premature mortality. However, the associations of circulating creatinine and cystatin C with muscle mass and mortality remain unclear and require further investigation to better inform clinical decision-making. This study aimed to disentangle these complex relationships and better inform clinical decisions on marker reliability in varying settings by investigating whether cystatin C adjustment could clarify the associations of circulating creatinine with muscle mass and mortality. Method We conducted a prospective, observational cohort study including 8, 437 community-dwelling adults enrolled in the Dutch PREVEND study and 5, 033 in the U.S. NHANES. Associations of serum creatinine and/or cystatin C with muscle mass surrogates and mortality were quantified with linear and Cox proportional-hazards regression, respectively. Missing observations in covariates were multiply imputed using Substantive Model Compatible Fully Conditional Specification. Results Mean (SD) age of PREVEND and NHANES participants (50% and 48% male) were 49.8 (12.6) and 48.7 (18.7) years, respectively. Median (Q1-Q3) serum creatinine and cystatin C were 0.79 (0.69-0.90) and 0.90 (0.70-1.00) mg/dl and 0.87 (0.78-0.98) and 0.91 (0.80-1.10) mg/l, respectively. Higher serum creatinine was associated to greater muscle mass, while serum cystatin C was not associated with muscle mass. Adjusting both markers for each other strengthened the positive relationship between serum creatinine and muscle mass and revealed an inverse association between serum cystatin C and muscle mass. In the PREVEND cohort, 1, 636 (19%) deaths were registered over a median follow-up of 12.9 (5.8-16.3) years with a 10-year mortality rate (95% CI) of 7.6% (7.1-8.2%). In the NHANES, 1, 273 (25%) deaths were registered over a median follow-up of 17.9 (17.3-18.5) years with a 10-year mortality rate of 13.8% (12.8-14.7%). Both markers were associated with increased mortality (Fig. panels A and B). Notably, when adjusted for each other, higher serum creatinine was associated with decreased mortality (Fig. panel C), while the association between serum cystatin C and increased mortality strengthened (Fig. panel D). The shapes of the associations in the PREVEND study and NHANES were almost identical. Conclusion The strong association between serum creatinine and muscle mass challenges its reliability as GFR marker, necessitating a more cautious approach in its clinical use. The minimal association between serum cystatin C and muscle mass supports its increased use as a more reliable alternative in routine clinical practice.

Precision Oncology, Artificial Intelligence, and Novel Therapeutic Advancements in the Diagnosis, Prevention, and Treatment of Cancer: Highlights from the 59th Irish Association for Cancer Research (IACR) Annual Conference

Advancements in oncology, especially with the era of precision oncology, is resulting in a paradigm shift in cancer care. Indeed, innovative technologies, such as artificial intelligence, are paving the way towards enhanced diagnosis, prevention, and personalised treatments as well as novel drug discoveries. Despite excellent progress, the emergence of resistant cancers has curtailed both the pace and extent to which we can advance. By combining both their understanding of the fundamental biological mechanisms and technological advancements such as artificial intelligence and data science, cancer researchers are now beginning to address this. Together, this will revolutionise cancer care, by enhancing molecular interventions that may aid cancer prevention, inform clinical decision making, and accelerate the development of novel therapeutic drugs. Here, we will discuss the advances and approaches in both artificial intelligence and precision oncology, presented at the 59th Irish Association for Cancer Research annual conference.

A prospective observational comparative study to compare the diagnostic efficacy of the Fenyo Lindberg scoring system and Yash scoring system in patients of acute appendicitis in tertiary care hospitals in central India

Background Acute appendicitis is a typical surgical emergency requiring prompt and accurate diagnosis for timely intervention. This prospective observational comparative study aims to assess the diagnostic efficacy of two scoring systems, the Yash scoring system and the Fenyo-Lindberg scoring system, compared to the gold standard of histopathological diagnosis. The study is conducted at A.V.B.R.H., a tertiary care hospital in Central India, focusing on providing valuable insights into the comparative performance of these scoring systems in the local patient population. Methods The study adopts a prospective observational comparative design, enrolling clinically diagnosed cases of acute appendicitis from the outpatient and inpatient departments of the Surgery department at A.V.B.R.H. Patients willing to undergo surgery are included. At the same time, those with complicating factors or contraindications are excluded. Data collection involves thorough clinical evaluations, scoring system assessments, and comprehensive investigations, with histopathology as the reference standard. Statistical analyses include descriptive statistics, comparative analyses, primary outcome assessments, and regression analyses, ensuring a robust evaluation of the diagnostic efficacy of the scoring systems. Expected Outcome Anticipated outcomes include a comprehensive understanding of the diagnostic efficacy of the Yash and Fenyo-Lindberg scoring systems in acute appendicitis. The study aims to identify which scoring system demonstrates superior accuracy, sensitivity, and specificity, providing valuable information for clinical decision-making. The results will contribute to optimizing diagnostic protocols for acute appendicitis, potentially influencing patient management and surgical interventions. This study’s findings are expected to be relevant to the local setting and broader contexts, enhancing the knowledge surrounding acute appendicitis diagnosis.

Breakthrough Invasive Fungal Infections in Patients With High-Risk Hematological Disorders Receiving Voriconazole and Posaconazole Prophylaxis: A Systematic Review.

Primary antifungal prophylaxis with mold-active azoles is used to prevent invasive fungal infections in patients with high-risk hematological disorders; however, breakthrough infections occur, and the reasons for treatment failure are still not fully understood. To help inform clinical decisions, we sought to define microbiological, clinical, and pharmacological characteristics of proven and probable breakthrough invasive fungal infections (bIFIs) in patients with high-risk hematological disorders receiving voriconazole or posaconazole prophylaxis. We performed a systematic review of the literature following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. The search strategy was last conducted on 19 April 2023. We assessed 5293 studies for eligibility, and 300 were selected for data extraction. These studies described 1076 cases of bIFIs occurring under voriconazole (42.5%) or posaconazole (57.5%). The most commonly found pathogens were Aspergillus (40%), Mucorales (20%), Candida (18%), and Fusarium (9%) species. Mucorales were more frequent among voriconazole-emerging cases, whereas Aspergillus and Fusarium were more prevalent among posaconazole-emerging cases. Definitive, putative, or probable antifungal resistance was found in 31% of cases. Therapeutic drug monitoring showed subtherapeutic azole concentration in 32 of 90 (36%) cases. Infection-related mortality was reported in 117 cases and reached 35%. In our systemic review, the most common bIFIs were aspergillosis, mucormycosis, candidiasis, and fusariosis. Antifungal resistance explains only a minority of cases. Subtherapeutic prophylaxis was frequent but rarely reported. Prospective studies are needed to better understand these infections and to establish optimal management.

The impact of monotherapies for male androgenetic alopecia: A network meta-analysis study.

The evidence base pertaining to the efficacy of monotherapies for androgenetic alopecia (AGA), the most common form of hair loss, is ever expanding-and this warrants a formal comparison therapies' effect on a frequent basis. The objective of the current study was to determine the comparative effect of relevant monotherapies for male AGA. Our aim was achieved by conducting Bayesian network meta-analysis (NMA), under a random effects model, for two outcomes: 6-month change in (1) total and (2) terminal hair density in adult (i.e., aged 18 years and above) men with AGA; these analyses were preceded by a systematic search of the peer-reviewed literature for suitable data. Interventions' surface under the cumulative ranking curve (SUCRA) and pairwise relative effects (quantified as mean differences) were estimated through the NMAs. We determined the comparative effect of 20 active comparators and a control (i.e., placebo/vehicle). "Dutasteride 0.5 mg once daily for 24 weeks" was ranked the most effective in terms of 6-month change in (1) total hair density (SUCRA = 87%) and terminal hair density (SUCRA = 98%). Our results showed that interventions' effectiveness can be dose dependent. Our updated analyses of the up-to-date evidence regarding monotherapies for male AGA showed that the oral form of 5-alpha reductase inhibitors are more effective than oral minoxidil and other newer agents like Botox, microneedling, and photobiomodulation. Our findings can better inform clinical decision making and design of future research studies.

Genetic Testing Resources and Practice Patterns Among Pediatric Cardiomyopathy Programs.

The use of genetic testing has enhanced the diagnostic accuracy of heritable genetic cardiomyopathies. However, it remains unclear how genetic information is interpreted and incorporated into clinical practice for children with cardiomyopathy. The primary aim of this study was to understand how clinical practice differs regarding sequence variant classifications amongst pediatric cardiologists who treat children with cardiomyopathy. A secondary aim was to understand the availability of genetic testing and counseling resources across participating pediatric cardiomyopathy programs. An electronic survey was distributed to pediatric heart failure, cardiomyopathy, or heart transplantation physicians between August and September 2022. A total of 106 individual providers from 68 unique centers responded to the survey. Resources for genetic testing and genetic counseling vary among large pediatric cardiomyopathy programs. A minority of centers reported having a geneticist (N = 16, 23.5%) or a genetic counselor (N = 21, 31%) on faculty within the division of pediatric cardiology. A total of 9 centers reported having both (13%). Few centers (N = 13, 19%) have a formal process in place to re-engage patients who were previously discharged from cardiology follow-up if variant reclassification would alter clinical management. Clinical practice patterns were uniform in response to pathogenic or likely pathogenic variants but were more variable for variants of uncertain significance. Efforts to better incorporate genetic expertise and resources into the clinical practice of pediatric cardiomyopathy may help to standardize the interpretation of genetic information and better inform clinical decision-making surrounding heritable cardiomyopathies.

Developing predictive models for HIV Drug resistance: A genomic and AI approach

This paper proposes a novel approach to combating HIV drug resistance through the development of predictive models leveraging genomic data and artificial intelligence (AI). With the increasing prevalence of drug-resistant strains of HIV, there is a critical need for innovative strategies to predict and manage resistance mutations, thereby optimizing treatment outcomes and prolonging the efficacy of antiretroviral therapy (ART). Drawing on advances in genomics and AI, this study outlines a conceptual framework for the development of predictive models that can identify potential drug-resistance mutations in HIV genomes and inform clinical decision-making. The proposed framework integrates genomic data from HIV-infected individuals with AI algorithms capable of learning complex patterns within the data. By analyzing genomic sequences obtained from HIV-positive patients, the models aim to identify genetic variations associated with drug resistance, predict the likelihood of resistance development, and guide the selection of appropriate treatment regimens. This approach holds promise for personalized medicine in HIV care, enabling clinicians to tailor therapy based on an individual's genetic profile and risk of resistance. Key components of the conceptual framework include data preprocessing to extract relevant genomic features, model training using machine learning techniques such as deep learning and ensemble methods, and validation of predictive performance through cross-validation and independent testing. Furthermore, the integration of clinical data, such as treatment history and viral load measurements, enhances the predictive accuracy of the models and provides valuable insights into treatment response dynamics.The development of predictive models for HIV drug resistance represents a paradigm shift in HIV care, offering a proactive approach to treatment management and surveillance. By leveraging genomic and AI technologies, healthcare providers can anticipate and address emerging resistance mutations before they compromise treatment efficacy. Ultimately, the implementation of predictive models holds the potential to improve patient outcomes, reduce the transmission of drug-resistant HIV strains, and advance the global fight against HIV/AIDS. Keywords: Developing, Predictive Models, HIV Drug Resistance, Genomic, AI Approach.

Interpretable machine learning based on CT-derived extracellular volume fraction to predict pathological grading of hepatocellular carcinoma.

To develop a non-invasive auxiliary assessment method based on CT-derived extracellular volume (ECV) to predict the pathological grading (PG) of hepatocellular carcinoma (HCC). The study retrospectively analyzed 238 patients who underwent HCC resection surgery between January 2013 and April 2023. Six machine learning algorithms were employed to construct predictive models for HCC PG: logistic regression, extreme gradient boosting, Light Gradient Boosting Machine (LightGBM), random forest, adaptive boosting, and Gaussian naive Bayes. Model performance was evaluated using receiver operating characteristic curve analysis, including area under the curve (AUC), sensitivity, specificity, accuracy, positive predictive value, negative predictive value, and F1 score. Calibration plots were used for visual evaluation of model calibration. Clinical decision curve analysis was performed to assess potential clinical utility by calculating net benefit. 166 patients from Hospital A were allocated to the training set, while 72 patients from Hospital B (constituting 30.25% of the total sample) were assigned to the test set. The model achieved an AUC of 1.000 (95%CI: 1.000-1.000) in the training set and 0.927 (95%CI: 0.837-0.999) in the validation set, respectively. Ultimately, the model achieved an AUC of 0.909 (95%CI: 0.837-0.980) in the test set, with an accuracy of 0.778, sensitivity of 0.906, specificity of 0.789, negative predictive value of 0.556, and F1 score of 0.908. This study successfully developed and validated a non-invasive auxiliary assessment method based on CT-derived ECV to predict the HCC PG, providing important supplementary information for clinical decision-making.

Efficacy and safety of different cycles of neoadjuvant immunotherapy in resectable non-small cell lung cancer: A systematic review and meta-analysis

BackgroundThere is no standard consensus on the optimal number of cycles of neoadjuvant immunotherapy prior to surgery for patients with locoregionally advanced non-small cell lung cancer (NSCLC). We carried out a systematic review to evaluate the efficacy and safety of neoadjuvant immunotherapy with different treatment cycles in order to provide valuable information for clinical decision-making. MethodsPubMed, Embase, the Cochrane Library and ClinicalTrials.gov were systematically searched before May 2023. The included studies were categorized based on different treatment cycles of neoadjuvant immunotherapy to assess their respective efficacy and safety in patients with resectable NSCLC. ResultsIncorporating data from 29 studies with 1331 patients, we found major pathological response rates of 43 % (95%CI, 34–52 %) with two cycles and 33 % (95%CI, 22–45 %) with three cycles of neoadjuvant immunotherapy. Radiological response rates were 39 % (95%CI, 28–50 %) and 56 % (95%CI, 44–68 %) for two and three cycles, respectively, with higher incidence rates of severe adverse events (SAEs) in the three-cycle group (32 %; 95%CI, 21–50 %). Despite similar rates of R0 resection between two and three cycles, the latter showed a slightly higher surgical delay rate (1 % vs. 7 %). Neoadjuvant treatment modes significantly affected outcomes, with the combination of immunotherapy and chemotherapy demonstrating superiority in improving pathological and radiological response rates, while the incidence of SAEs in patients receiving combination therapy remained within an acceptable range (23 %; 95%CI, 15–35 %). However, regardless of the treatment mode administered, an increase in the number of treatment cycles did not result in substantial improvement in pathological response rates. ConclusionThere are clear advantages of combining immunotherapy and chemotherapy in neoadjuvant settings. Increasing the number of cycles of neoadjuvant immunotherapy from two to three primarily may not substantially improve the overall efficacy, while increasing the risk of adverse events. Further analysis of the outcomes of four cycles of neoadjuvant immunotherapy is necessary.

Performance of Cardiovascular Physical Exam Skills by Internal Medicine Residents

ObjectiveFew studies have assessed the ability of internal medicine residents to perform a cardiovascular physical examination using real patients. MethodsFirst year internal medicine interns from two large academic medical centers in Maryland examined the same patient with aortic insufficiency as part of the Assessment of Physical Examination and Communication Skills (APECS). Interns were assessed on five clinical domains: physical exam technique, identifying physical signs, generating a differential diagnosis, clinical judgement, and maintaining patient welfare. Spearman's correlation test was used to describe associations between clinical domains. Preceptor comments were examined to identify common errors in physical exam technique and identifying physical signs. ResultsOne-hundred and nine interns examined the same patient with aortic insufficiency across 14 APECS sessions. Only 58 interns (53.2%) correctly identified the presence of a diastolic murmur, and only 52 interns (47.7%) included aortic insufficiency on their differential diagnosis. There was a significant and positive correlation between physical exam technique and identification of the correct physical findings (r=0.42, p<0.001). Both technique (r=0.34, p=0.003) and identifying findings (r=0.42, p<0.001) were significantly associated with generating an appropriate differential diagnosis. Common errors in technique included auscultating over the gown, timing the cardiac cycle with the radial pulse, and failing to palpate for the apical impulse. ConclusionsInternal medicine interns had variable skills in performing and interpreting the cardiovascular physical exam. Improving cardiovascular exam skills would likely lead to increased identification of relevant cardiovascular findings, inform clinical decision making and improve overall patient care.

Prediction of resting energy expenditure for adolescents with severe obesity: A multi-centre analysis.

Resting energy expenditure (REE) assessments can help inform clinical treatment decisions in adolescents with elevated body mass index (BMI), but current equations are suboptimal for severe obesity. We developed a predictive REE equation for youth with severe obesity and obesity-related comorbidities and compared results to previously published predictive equations. Data from indirect calorimetry, clinical measures, and body composition per Dual x-ray absorptiometry (DXA) were collected from five sites. Data were randomly divided into development (N = 438) and validation (N = 118) cohorts. A predictive equation was developed using Elastic Net regression, using sex, race, ethnicity, weight, height, BMI percent of the 95th%ile (BMIp95), waist circumference, hip circumference, waist/hip ratio, age, Tanner stage, fat and fat-free mass. This equation was verified in the validation cohort and compared with 11 prior equations. Data from the total cohort (n = 556, age 15 ± 1.7 years, 77% female, BMIp95 3.3 ± 0.94) were utilized. The best fit equation was REE = -2048 + 18.17 × (Height in cm) - 2.57 × (Weight in kg) + 7.88 × (BMIp95) + 189 × (1 = male, 0 = female), R2 = 0.466, and mean bias of 23 kcal/day. This new equation provides an updated REE prediction that accounts for severe obesity and metabolic complications frequently observed in contemporary youth.

Mortality burden of pre-treatment weight loss in patients with non-small-cell lung cancer: A systematic literature review and meta-analysis.

Cachexia, with weight loss (WL) as a major component, is highly prevalent in patients with cancer and indicates a poor prognosis. The primary objective of this study was to conduct a meta-analysis to estimate the risk of mortality associated with cachexia (using established WL criteria prior to treatment initiation) in patients with non-small-cell lung cancer (NSCLC) in studies identified through a systematic literature review. The review was conducted according to PRISMA guidelines. Embase® and PubMed were searched to identify articles on survival outcomes in adult patients with NSCLC (any stage) and cachexia published in English between 1 January 2016 and 10 October 2021. Two independent reviewers screened titles, abstracts and full texts of identified records against predefined inclusion/exclusion criteria. Following a feasibility assessment, a meta-analysis evaluating the impact of cachexia, defined per the international consensus criteria (ICC), or of pre-treatment WL≥5% without a specified time interval, on overall survival in patients with NSCLC was conducted using a random-effects model that included the identified studies as the base case. The impact of heterogeneity was evaluated through sensitivity and subgroup analyses. The standard measures of statistical heterogeneity were calculated. Of the 40 NSCLC publications identified in the review, 20 studies that used the ICC for cachexia or reported WL≥5% and that performed multivariate analyses with hazard ratios (HRs) or Kaplan-Meier curves were included in the feasibility assessment. Of these, 16 studies (80%; n=6225 patients; published 2016-2021) met the criteria for inclusion in the meta-analysis: 11 studies (69%) used the ICC and 5 studies (31%) used WL≥5%. Combined criteria (ICC plus WL≥5%) were associated with an 82% higher mortality risk versus no cachexia or WL<5% (pooled HR [95% confidence interval, CI]: 1.82 [1.47, 2.25]). Although statistical heterogeneity was high (I2=88%), individual study HRs were directionally aligned with the pooled estimate, and there was considerable overlap in CIs across included studies. A subgroup analysis of studies using the ICC (HR [95% CI]: 2.26 [1.80, 2.83]) or WL≥5% (HR [95% CI]: 1.28 [1.12, 1.46]) showed consistent findings. Assessments of methodological, clinical and statistical heterogeneity indicated that the meta-analysis was robust. Overall, this analysis found that ICC-defined cachexia or WL≥5% was associated with inferior survival in patients with NSCLC. Routine assessment of both weight and weight changes in the oncology clinic may help identify patients with NSCLC at risk for worse survival, better inform clinical decision-making and assess eligibility for cachexia clinical trials.

Systemic immune-inflammation index is associated with cardiac complications following acute ischemic stroke: A retrospective single-center study

BackgroundStroke-induced heart syndrome is a feared complication of ischemic stroke, that is commonly encountered and has a strong association with unfavorable prognosis. More research is needed to explore underlying mechanisms and inform clinical decision making. This study aims to explore the relationship between the early systemic immune-inflammation (SII) index and the cardiac complications after acute ischemic stroke. MethodsConsecutive patients with acute ischemic stroke were prospectively collected from January 2020 to August 2022 and retrospectively analyzed. We included subjects who presented within 24 hours after symptom onset and were free of detectable infections or cancer on admission. SII index [(neutrophils × platelets/ lymphocytes)/1000] was calculated from laboratory data at admission. ResultsA total of 121 patients were included in our study, of which 24 (19.8 %) developed cardiac complications within 14 days following acute ischemic stroke. The SII level was found higher in patients with stroke-heart syndrome (p<.001), which was an independent predictor of stroke-heart syndrome (adjusted odds ratio 5.089, p=.002). ConclusionNew-onset cardiovascular complications diagnosed following a stroke are very common and are associated with early SII index.

Application of Genetic Information to Cochlear Implantation in Clinical Practice.

Cochlear implantation is currently the treatment of choice for children with severe-to-profound sensorineural hearing impairment (SNHI). However, the outcomes with cochlear implant (CI) vary significantly among recipients. Genetic diagnosis offers direct clues regarding the pathogenesis of SNHI, which facilitates the development of personalized medicine for potential candidates for CI. In this article, I present a comprehensive overview of the usefulness of genetic information in clinical decision-making for CI. Genetically confirmed diagnosis enables clinicians to: 1) monitor the evolution of SNHI and determine the optimal surgical timing, 2) predict the potential benefits of CI in patients with identified genetic etiology, and 3) select CI devices/electrodes tailored to patients with specific genetic mutations.

Translating Value Across Telehealth Stakeholders: A Rapid Review of Telehealth Measurement Evidence and a New Policy Framework to Guide Telehealth Researchers.

Introduction: The surge in virtual care during the pandemic was accompanied by an increase in telehealth data of interest to policy stakeholders and other health care decision makers. However, these data often require substantial preprocessing and targeted analyses to be usable. By deliberately evaluating telehealth services with stakeholder perspectives in mind, telehealth researchers can more effectively inform clinical and policy decision making. Objective: To examine existing literature on telehealth measurement and evaluation and develop a new policy-oriented framework to guide telehealth researchers. Materials and Methods: A systematic rapid review of literature on telehealth measurement and evaluation was conducted by two independent reviewers in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses. The findings were analyzed and applied to the Supporting Pediatric Research on Outcomes and Utilization of Telehealth Evaluation and Measurement (STEM) Framework through the lens of key health care delivery decision makers to create a STEM Policy Framework Results: An initial search yielded 2,324 peer-reviewed articles and gray literatyre from 2012 to 2022, of which 56 met inclusion criteria. These measured and evaluated telehealth access (41.5%), quality (32.1%), cost (15.1%), experience (5.7%), and utilization (5.7%), consistent with the STEM Framework domains, but there was no universal approach. The STEM Policy Framework focuses this literature by describing data measures for each domain from the perspectives of five stakeholders. Conclusions: Literature describing measurement and evaluation approaches for telehealth is limited and not standardized, with few considering policy stakeholder perspectives. With this proposed STEM Policy Framework, we aim to improve this body of literature and support researchers seeking to inform telehealth policy through their work.

Advanced nursing practice assessment: a case study from paediatric neurodisability

Conducting a comprehensive, person-centred assessment is at the core of advanced nursing practice in paediatric neurodisability. The following paper uses a case study to highlight the comprehensive nature of a strengths-based assessment—underpinned by the biopsychosocial model—that is aligned to the neurodiversity paradigm. Autistic children can experience a range of co-occurring medical, mental health and other neurodevelopmental differences that require careful consideration during assessment to ensure that diagnostic overshadowing does not occur. Case formulation can provide an appropriate framework to identify individual strengths and needs to inform the development of appropriate supports for the person. The advanced nurse practitioner on a children's disability team is uniquely placed to go beyond diagnosis, and critically review all the assessment information to inform clinical decision-making and formulate interventions.

Clinical and socioeconomic predictors of shunt malfunction in the pediatric emergency department.

The aim of this study was to delineate the clinical and socioeconomic variables associated with shunt revision in pediatric patients presenting to the emergency department (ED) with concerns of ventricular shunt malfunction. A retrospective analysis of pediatric ED consultations for shunt malfunction over a 1-year period was conducted, examining clinical symptoms, radiographic findings, and socioeconomic variables. Sensitivities, specificities, and positive and negative predictive values were calculated for each presenting symptom collected. Logistic regression models were used to estimate the odds ratios for shunt revision based on these variables, and multivariate analyses were used to adjust for potential confounders. Of the 271 ED visits from 137 patients, 19.2% resulted in shunt revision. Increased ventricle size on imaging (OR 11.38, p < 0.001), shunt site swelling (OR 9.04, p = 0.01), bradycardia (OR 7.08, p < 0.001), and lethargy (OR 5.77, p < 0.001) were significantly associated with shunt revision. Seizure-like activity was inversely related to revision needs (OR 0.24, p < 0.001). Patients with private or self-pay insurance were more likely to undergo revision compared with those with public insurance (p = 0.028). Multivariate analysis further confirmed the significant associations of increased ventricle size, lethargy, and bradycardia with shunt revision, while also revealing that seizure-like activity inversely affected the likelihood of revision. Patients with severe cognitive and language disabilities were more likely to be admitted to the hospital from the ED but were not more likely to undergo revision. Clinical signs such as increased ventricle size, shunt site swelling, bradycardia, and lethargy may be strong predictors of the need for shunt revision in pediatric patients presenting to the ED with concerns of shunt malfunction. Socioeconomic factors play a less clear role in predicting shunt revision and admission from the ED; however, the nature of their influence is unclear. These findings can help inform clinical decision-making and optimize resource utilization in the ED.

Dural Metastasis in Breast Cancer: MRI-Based Morphological Subtypes and Their Clinical Implications.

To investigate the clinical factors associated with breast cancer (BRCA) dural metastases (DMs), their impact on prognosis compared to brain parenchymal metastases (BPMs) alone, and differences between DM subtypes, aiming to inform clinical decisions. We retrospectively analyzed 119 patients with BRCA with brain metastasis, including 91 patients with BPM alone and 28 patients with DM. Univariate and multivariate analyses were performed to compare the clinical characteristics between the two groups and within subtypes of DM. Overall survival after DM (OSDM) and the interval from DM to leptomeningeal carcinomatosis (LMC) were compared using Kaplan-Meier analysis. DM was notably linked with extracranial metastasis, luminal-like BRCA subtype (p=0.033), and skull metastases (p<0.001). Multiple logistic regression revealed a strong association of DM with extracranial and skull metastases, but not with subtype or hormone receptor (HR) status. Patients with DM did not show survival differences compared with patients with BPM alone. In the subgroup analysis, nodular type DM correlated with HER2 status (p=0.044), whereas diffuse type DM was significantly associated with a higher prevalence of the luminal-like subtype (p=0.048) and the presence of skull metastasis (p=0.002). Patients with diffuse DM did not exhibit a significant difference in OSDM but had a notably shorter interval from DM to LMC compared to those with nodular DM (p=0.049). While the impact of DM on the overall prognosis of patients with BRCA is minimal, our findings underscore distinct characteristics and prognostic outcomes within DM subgroups.