Location of ryanodine receptor type 2 mutation predicts age of onset of sudden death in catecholaminergic polymorphic ventricular tachycardia - A systematic review and meta-analysis of case-based literature.

Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited arrhythmia caused by mutations in the ryanodine receptor type 2 (RyR2). Diagnosis of CPVT often occurs after a major cardiac event, thus posing a severe threat to the patient's health. Methods: Publication databases, including PubMed, Scopus, and Embase, were searched for articles on patients with RyR2-CPVT mutations and their associated clinical presentation. Articles were reviewed by two independent reviewers and mutations were analyzed for demographic information, mutation distribution, and therapeutics. The human RyR2 cryo-EM structure was used to model CPVT mutations and predict the diagnosis and outcomes of CPVT patients. Findings: We present a database of 1008 CPVT patients from 227 papers. Data analyses revealed that patients most often experienced exercise-induced syncope in their early teenage years but the diagnosis of CPVT took a decade. Mutations located near key regulatory sites in the channel were associated with earlier onset of CPVT symptoms including sudden cardiac death. Interpretation: The present study provides a road map for predicting clinical outcomes based on the location of RyR2 mutations in CPVT patients. The study was partially limited by the inconsistency in the depth of information provided in each article, but nevertheless is an important contribution to the understanding of the clinical and molecular basis of CPVT and suggests the need for early diagnosis and creative approaches to disease management. Funding: The work was supported by grant NIH R01HL145473, P01 HL164319 R25HL156002, T32 HL120826.

Augmented and Virtual Reality Applications in Facial Plastic Surgery: A Scoping Review.

OBJECTIVES: Augmented reality (AR) and virtual reality (VR) are emerging technologies with wide potential applications in health care. We performed a scoping review of the current literature on the application of augmented and VR in the field of facial plastic and reconstructive surgery (FPRS). DATA SOURCES: PubMed and Web of Science. REVIEW METHODS: According to PRISMA guidelines, PubMed and Web of Science were used to perform a scoping review of literature regarding the utilization of AR and/or VR relevant to FPRS. RESULTS: Fifty-eight articles spanning 1997-2023 met the criteria for review. Five overarching categories of AR and/or VR applications were identified across the articles: preoperative, intraoperative, training/education, feasibility, and technical. The following clinical areas were identified: burn, craniomaxillofacial surgery (CMF), face transplant, face lift, facial analysis, facial palsy, free flaps, head and neck surgery, injectables, locoregional flaps, mandible reconstruction, mandibuloplasty, microtia, skin cancer, oculoplastic surgery, rhinology, rhinoplasty, and trauma. CONCLUSION: AR and VR have broad applications in FPRS. AR for surgical navigation may have the most emerging potential in CMF surgery and free flap harvest. VR is useful as distraction analgesia for patients and as an immersive training tool for surgeons. More data on these technologies' direct impact on objective clinical outcomes are still needed. LEVEL OF EVIDENCE: N/A Laryngoscope, 2023.

Impact of autologous transplantation on survival in patients with newly diagnosed multiple myeloma who have high-risk cytogenetics: A meta-analysis of randomized controlled trials.

BACKGROUND: Despite routine evaluation of cytogenetics in myeloma, little is known regarding the impact of high-dose therapy (HDT) consolidation on overall survival (OS) or progression-free survival (PFS) in patients who have high-risk cytogenetics. The authors performed a meta-analysis of randomized controlled trials (RCTs) to assess the heterogeneity of HDT efficacy according to cytogenetic risk. METHODS: All RCTs in patients who had newly diagnosed myeloma from 2000 to 2021 that compared upfront HDT versus standard-dose therapy (SDT) consolidation were included. The primary objective was to assess the difference in HDT efficacy between standard-risk and high-risk cytogenetics in terms of the OS or PFS log(hazard ratio) (HR). The pooled OS and PFS HR was calculated according to cytogenetic-risk subgroup using a random-effects model, and heterogeneity (I2 ) (the percentage of total observed variability explained by between-study differences) was assessed using an interaction test. RESULTS: After screening 3307 citations, 6 RCTs were included for PFS analysis, and 4 were included for OS analysis. The median follow-up ranged from 3.1 to 7.8 years. The pooled OS HR for HDT versus SDT consolidation in patients with standard-risk and high-risk cytogenetics was 0.90 (95% confidence interval [CI], 0.70-1.17; I2 = 0%) and 0.66 (95% CI, 0.45-0.97; I2 = 0%), respectively. The difference in HDT efficacy in terms of OS between standard-risk and high-risk patients was statistically significant in favor of the high-risk group (P for interaction = .03). The pooled PFS HR for HDT versus SDT was 0.65 (95% CI 0.56-0.76; I2 = 0%) versus 0.52 (95% CI, 0.33-0.83; I2 = 55%), respectively. The difference in HDT efficacy in terms of PFS between standard-risk and high-risk patients was not significant (P for interaction = .25). CONCLUSIONS: The magnitude of OS benefit with upfront HDT is cytogenetics-dependent. Patients with high-risk cytogenetics should preferably receive upfront rather than delayed HDT consolidation. LAY SUMMARY: Upfront autologous stem cell transplantation improves overall survival in patients with newly diagnosed myeloma harboring high-risk cytogenetics.

The Efficacy and Safety of Transcranial Direct Current Stimulation for Cerebellar Ataxia: a Systematic Review and Meta-Analysis.

A promising new approach, transcranial direct current stimulation (tDCS) has recently been used as a therapeutic modality for cerebellar ataxia. However, the strength of the conclusions drawn from individual studies in the current literature may be constrained by the small sample size of each trial. Following a systematic literature retrieval of studies, meta-analyses were conducted by pooling the standardized mean differences (SMDs) using random-effects models to assess the efficacy of tDCS on cerebellar ataxia, measured by standard clinical rating scales. Domain-specific effects of tDCS on gait and hand function were further evaluated based on 8-m walk and 9-hole peg test performance times, respectively. To determine the safety of tDCS, the incidences of adverse effects were analyzed using risk differences. Out of 293 citations, 5 randomized controlled trials involving a total of 72 participants with cerebellar ataxia were included. Meta-analysis indicated a 26.1% (p = 0.003) improvement in ataxia immediately after tDCS with sustained efficacy over months (28.2% improvement after 3 months, p = 0.04) when compared with sham stimulation. tDCS seems to be domain-specific as the current analysis suggested a positive effect on gait (16.3% improvement, p = 0.04) and failed to reveal differences for hand function (p = 0.10) with respect to sham. The incidence of adverse events in tDCS and sham groups was similar. tDCS is an effective intervention for mitigating ataxia symptoms with lasting results that can be sustained for months. This treatment shows preferential effects on gait ataxia and is relatively safe.

Mapping the Association of College and Research Libraries information literacy framework and nursing professional standards onto an assessment rubric.

OBJECTIVE: The authors developed a rubric for assessing undergraduate nursing research papers for information literacy skills critical to their development as researchers and health professionals. METHODS: We developed a rubric mapping six American Nurses Association professional standards onto six related concepts of the Association of College & Research Libraries (ACRL) Framework for Information Literacy for Higher Education. We used this rubric to evaluate fifty student research papers and assess inter-rater reliability. RESULTS: Students tended to score highest on the "Information Has Value" dimension and lowest on the "Scholarship as Conversation" dimension. However, we found a discrepancy between the grading patterns of the two investigators, with inter-rater reliability being "fair" or "poor" for all six rubric dimensions. CONCLUSIONS: The development of a rubric that dually assesses information literacy skills and maps relevant disciplinary competencies holds potential. This study offers a template for a rubric inspired by the ACRL Framework and outside professional standards. However, the overall low inter-rater reliability demands further calibration of the rubric. Following additional norming, this rubric can be used to help students identify the key information literacy competencies that they need in order to succeed as college students and future nurses. These skills include developing an authoritative voice, determining the scope of their information needs, and understanding the ramifications of their information choices.