Antiplatelets versus anticoagulants in the treatment of blunt cerebrovascular injury (BCVI) - A systematic review and meta-analysis.

INTRODUCTION: Blunt cerebrovascular injury (BCVI) occurs in 1-3% of blunt traumas and is associated with stroke, disability, and mortality if unrecognized and untreated. Early detection and treatment are imperative to reduce the risk of stroke, however, there is significant variation amongst centers and trauma care providers in the specific medical management strategy used. This study compares antiplatelets vs. anticoagulants to determine BCVI-related stroke risk and bleeding complications to better understand the efficacy and safety of various treatment strategies. METHODS: A systematic review of MEDLINE, Embase, and Cochrane CENTRAL databases was conducted with the assistance of a medical librarian. The search was supplemented with manual review of the literature. Included studies reported treatment-stratified risk of stroke following BCVI. All studies were screened independently by two reviewers, and data was extracted in duplicate. Meta-analysis was conducted using pooled estimates of odds ratios (OR) with a random-effects model using Mantel-Haenszel methods. RESULTS: A total of 3315 studies screened yielded 39 studies for inclusion, evaluating 6552 patients (range 8 - 920 per study) with a total of 7643 BCVI. Stroke rates ranged from 0% to 32.8%. Amongst studies included in the meta-analysis, there were a total of 405 strokes, with 144 (35.5%) occurring on therapy, for a total stroke rate of 4.5 %. Meta-analysis showed that stroke rate after BCVI was lower for patients treated with antiplatelets vs. anticoagulants (OR 0.57; 95% CI 0.33-0.96, p = 0.04); when evaluating only the 9 studies specifically comparing ASA to heparin, the stroke rate was similar between groups (OR 0.43; 95% CI 0.15-1.20, p = 0.11). Eleven studies evaluated bleeding complications and demonstrated lower risk of bleeding with antiplatelets vs. anticoagulants (OR 0.29; 95% CI 0.13-0.63, p = 0.002); 5 studies evaluating risk of bleeding complications with ASA vs. heparin showed lower rates of bleeding complications with ASA (OR 0.16; 95% CI 0.04-0.58, p = 0.005). CONCLUSIONS: Treatment of patients with BCVI with antiplatelets is associated with lower risks of stroke and bleeding complications compared to treatment with anticoagulants. Use of ASA vs. heparin specifically was not associated with differences in stroke risk, however, patients treated with ASA had fewer bleeding complications. Based on this evidence, antiplatelets should be the preferred treatment strategy for patients with BCVI.

Are Surgeons Going to Be Left Holding the Bag? Incisional Hernia Repair and Intra-Peritoneal Non-Absorbable Mesh Implant Complications.

Ventral incisional hernias are common indications for elective repair and frequently complicated by recurrence. Surgical meshes, which may be synthetic, bio-synthetic, or biological, decrease recurrence and, resultingly, their use has become standard. While most patients are greatly benefited, mesh represents a permanently implanted foreign body. Mesh may be implanted within the intra-peritoneal, preperitoneal, retrorectus, inlay, or onlay anatomic positions. Meshes may be associated with complications that may be early or late and range from minor to severe. Long-term complications with intra-peritoneal synthetic mesh (IPSM) in apposition to the viscera are particularly at risk for adhesions and potential enteric fistula formation. The overall rate of such complications is difficult to appreciate due to poor long-term follow-up data, although it behooves surgeons to understand these risks as they are the ones who implant these devices. All surgeons need to be aware that meshes are commercial devices that are delivered into their operating room without scientific evidence of efficacy or even safety due to the unique regulatory practices that distinguish medical devices from medications. Thus, surgeons must continue to advocate for more stringent oversight and improved scientific evaluation to serve our patients properly and protect the patient-surgeon relationship as the only rationale long-term strategy to avoid ongoing complications.

Resuscitative transesophageal echocardiography during the acute resuscitation of trauma: A retrospective observational study.

BACKGROUND: Resuscitative transesophageal echocardiography (TEE) is an emerging POCUS modality that can be used to guide trauma resuscitation. METHODS: Trauma patients who underwent TEE within 24 h of admission from 2013 to 2022 were prospectively identified. We retrospectively analyzed resuscitative TEE reports and patient charts in duplicate. RESULTS: 29 providers performed TEE for 54 acute trauma patients. 28 (52%) died in hospital; 33 (61%) required operative intervention (<24 h). Median injury severity score was 29 [IQR 22-43]. The most common indications for TEE were hemodynamic instability (34, 63%), inadequate windows for transthoracic echocardiography (14, 26%) and cardiac arrest (11, 20%). There were no identified complications. A new diagnosis was made in 31 (57%) cases: most commonly right ventricular dysfunction (10, 19%), pericardial effusion (9, 17%), and hypovolemia (6, 11%). TEE ruled out major cardiac injury in 83% of cases. TEE changed resuscitative strategy, in 17 (32%) patients, diagnostic imaging approach in 6 (11%) patients, procedural or operative approach in 5 (9%) patients and disposition from the trauma bay in 4 (7%) patients. CONCLUSION: Resuscitative TEE during acute trauma care has an additional diagnostic yield to existing diagnostic pathways and may impact definitive management for some patients in the trauma bay.

Child restraint systems: Understanding confidence in proper use and addressing the need for education.

Objective: To quantify the extent of proper local child restraint system (CRS) use and to better understand changes to the level of self-reported confidence with increased CRS installations. With the goal being to improve safety for children travelling in personal vehicles across London, ON and the region. Methods: Public CRS clinics were initiated by Injury Prevention staff after they obtained the Child Passenger Safety Technician certification. Additionally, an online survey was commissioned targeting Ontario parents who had installed at least one CRS in the last five years. Results: From September 2018 to September 2019, 96 comprehensive CRS checks were performed, with 29% of systems found to be installed correctly. Survey results showed a high level of reported confidence with CRS installation (N = 514, 70% female, 43% one child). Parents who had installed only one CRS reported higher confidence in their first install, compared to parents who had installed two or more systems. Conclusions: The error rate with CRS installation and use seen in London, Ontario and the region, is similar to that reported in previous research. Survey results showed high levels of self-reported confidence in CRS use, especially for parents who have installed only one CRS. There presents a need to better understand the root cause of the discrepancy between level of confidence and proper CRS use and to expand our understanding of CRS knowledge retention and transferability to subsequent systems.

The unrestricted global effort to complete the COOL trial.

BACKGROUND: Severe complicated intra-abdominal sepsis (SCIAS) has an increasing incidence with mortality rates over 80% in some settings. Mortality typically results from disruption of the gastrointestinal tract, progressive and self-perpetuating bio-mediator generation, systemic inflammation, and multiple organ failure. A further therapeutic option may be open abdomen (OA) management with negative peritoneal pressure therapy (NPPT) to remove inflammatory ascites and attenuate the systemic damage from SCIAS, although there are definite risks of leaving the abdomen open whenever it might possibly be closed. This potential therapeutic paradigm is the rationale being assessed in the Closed Or Open after Laparotomy (COOL trial) ( https://clinicaltrials.gov/ct2/show/NCT03163095 ). Initially, the COOL trial received Industry sponsorship; however, this funding mandated the use of a specific trademarked and expensive NPPT device in half of the patients allocated to the intervention (open) arm. In August 2022, the 3 M/Acelity Corporation without consultation but within the terms of the contract canceled the financial support of the trial. Although creating financial difficulty, there is now no restriction on specific NPPT devices and removing a cost-prohibitive intervention creates an opportunity to expand the COOL trial to a truly global basis. This document describes the evolution of the COOL trial, with a focus on future opportunities for global growth of the study. METHODS: The COOL trial is the largest prospective randomized controlled trial examining the random allocation of SCIAS patients intra-operatively to either formal closure of the fascia or the use of the OA with an application of an NPPT dressing. Patients are eligible if they have free uncontained intraperitoneal contamination and physiologic derangements exemplified by septic shock OR severely adverse predicted clinical outcomes. The primary outcome is intended to definitively inform global practice by conclusively evaluating 90-day survival. Initial recruitment has been lower than hoped but satisfactory, and the COOL steering committee and trial investigators intend with increased global support to continue enrollment until recruitment ensures a definitive answer. DISCUSSION: OA is mandated in many cases of SCIAS such as the risk of abdominal compartment syndrome associated with closure, or a planned second look as for example part of "damage control"; however, improved source control (locally and systemically) is the most uncertain indication for an OA. The COOL trial seeks to expand potential sites and proceed with the evaluation of NPPT agnostic to device, to properly examine the hypothesis that this treatment attenuates systemic damage and improves survival. This approach will not affect internal validity and should improve the external validity of any observed results of the intervention. TRIAL REGISTRATION: National Institutes of Health ( https://clinicaltrials.gov/ct2/show/NCT03163095 ).

Do patient outcomes differ when the trauma team leader is a surgeon or non-surgeon? A multicentre cohort study.

PURPOSE: Trauma team leaders (TTLs) have traditionally been general surgeons; however, some trauma centres use a mixed model of care where both surgeons and non-surgeons (primarily emergency physicians) perform this role. The objective of this multicentre study was to provide a well-powered study to determine if TTL specialty is associated with mortality among major trauma patients. METHODS: Data were collected from provincial trauma registries at six level 1 trauma centres across Canada over a 10-year period. We included adult trauma patients (age ≥ 18 yrs) who triggered the highest-level trauma activation. The primary outcome was the difference in risk-adjusted in-hospital mortality for trauma patients receiving initial care from a surgeon versus a non-surgeon TTL. RESULTS: Overall, 12,961 major trauma patients were included in the analysis. Initial treatment was provided by a surgeon TTL in 57.8% (n = 7513) of cases, while 42.2% (n = 5448) of patients were treated by a non-surgeon TTL. Unadjusted mortality occurred in 11.6% of patients in the surgeon TTL group and 12.7% of patients in the non-surgeon TTL group (OR 0.87, 95% CI 0.78-0.98, p = 0.02). Risk-adjusted mortality was not significantly different between patients cared for by surgeon and non-surgeon TTLs (OR 0.92, 95% CI 0.80-1.06, p = 0.23). Furthermore, we did not observe differences in risk-adjusted mortality for any of the subgroups evaluated. CONCLUSIONS: After risk adjustment, there was no difference in mortality between trauma patients treated by surgeon or non-surgeon TTLs. Our study supports emergency physicians performing the role of TTL at level 1 trauma centres.

ABSTRAIT: OBJECTIF: Les chefs d'équipe de traumatologie (CET) sont traditionnellement des chirurgiens généralistes; cependant, certains centres de traumatologie utilisent un modèle mixte de soins où des chirurgiens et des non-chirurgiens (principalement des médecins d'urgence) qui jouent ce rôle. L'objectif de cette étude multicentrique était de fournir une étude bien menée pour déterminer si la spécialité CET est associée à la mortalité chez les patients traumatisés majeurs. MéTHODES: Les données ont été recueillies à partir des registres provinciaux de 6 niveau 1 centres de traumatologie au Canada sur une période de 10 ans. Nous avons inclus des patients adultes traumatisés (âge ≥ 18 ans) qui ont provoqué l'activation traumatique de niveau le plus haut. Le primaire résultat était la différence de mortalité hospitalière ajustée en fonction du risque pour les patients traumatisés qui ont reçu des soins primaires d'un chirurgien par rapport à un CET non chirurgien. RéSULTATS: En totale, 12 961 patients traumatisés majeurs ont été la partie de cette analyse. Le soin primaire a été assuré par un chirurgien CET dans 57,8 % (n=7 513) des cas, alors que 42,2 % (n=5 448) des patients ont été traités par un CET non chirurgien. Une mortalité non ajustée s'est produit chez 11,6 % des patients du groupe de chirurgien CET et 12,7 % des patients du groupe de non chirurgien CET (OR 0,87, IC à 95 % 0,78 à 0,98, p = 0,02). La mortalité ajustée en fonction du risque n'était pas significativement différente entre les patients pris en charge par des CET chirurgiens et non-chirurgiens (RC 0,92, IC à 95 % 0,80 à 1,06, p = 0,23). De plus, nous ne pouvons pas observer de différences de mortalité ajustée au risque pour aucun des sous-groupes évalués. CONCLUSIONS: Après avoir ajusté du risque, il n'y avait pas de différence de mortalité entre les patients traumatisés traités par des chirurgiens ou non chirurgiens CET. Notre étude soutient les médecins d'urgences jouent le rôle de CET dans les centres de traumatologie de niveau 1.

Reaction time measures of non-chromatic contamination in opponent stimuli.

Simple visual reaction times (RTs) are highly sensitive to the presence of transient activity. Transient and sustained visual mechanisms generate different RT versus contrast functions because they have different gains. To identify non-chromatic (transient) activity, we can compare RT versus contrast functions obtained with either fast or slow onset stimuli. To test this, the stimulus adopted was a temporal modulation along the red-green axis, introducing non-chromatic components by varying the red-green ratio. The technique was sensitive to departures from isoluminance for all observers; therefore, we present this method as a way to detect transient contamination in a chromatic stimulus.

The next frontier of acute care general surgery: fellowship training.

Acute care surgery (ACS) is an area of surgical specialization within general surgery and a model for clinical care delivery that has proliferated over the last 2 decades. Models of ACS in Canada exist in both academic and community settings and are used to manage patients in need of emergency general surgery (EGS) care, with or without the provision of trauma care. The implementation of the ACS model has changed the landscape of patient care, surgical education and the workforce, providing an option for some general surgeons to exclude EGS care from their regular practice. The rise of ACS as a concentration of surgical skill and content expertise has resulted in the establishment of dedicated ACS fellowship training programs. This is a landmark in the evolution of general surgery, as well as a stepping stone on the path to improving patient care, surgical education and scholarly endeavour in this field.

Efficacy of high dose tranexamic acid (TXA) for hemorrhage: A systematic review and meta-analysis.

BACKGROUND: Standard dose (≤ 1 g) tranexamic acid (TXA) has established mortality benefit in trauma patients. The role of high dose IV TXA (≥2 g or ≥30 mg/kg as a single bolus) has been evaluated in the surgical setting, however, it has not been studied in trauma. We reviewed the available evidence of high dose IV TXA in any setting with the goal of informing its use in the adult trauma population. METHODS: We searched MEDLINE, EMBASE and unpublished sources from inception until July 27, 2022 for studies that compared standard dose with high dose IV TXA in adults (≥ 16 years of age) with hemorrhage. Screening and data abstraction was done independently and in duplicate. We pooled trial data using a random effects model and considered randomized controlled trials (RCTs) and observational cohort studies separately. We assessed the individual study risk of bias using the Cochrane Risk of Bias for RCTs and the Newcastle-Ottawa Scale for observational cohort studies. The overall certainty of evidence was assessed using the GRADE approach (Grading of Recommendations Assessment, Development and Evaluation). RESULTS: We included 20 studies with a combined total of 12,523 patients. Based on pooled RCT data, and as compared to standard dose TXA, high dose IV TXA probably decreases transfusion requirements (odds ratio [OR] 0.86, 95% confidence interval [CI] 0.76 to 0.97, moderate certainty) but with possibly no effect on blood loss (mean difference [MD] 43.31 ml less, 95% CI 135.53 to 48.90 ml less, low certainty), and an uncertain effect on thromboembolic events (OR 1.33, 95% CI 0.86 to 2.04, very low certainty) and mortality (OR 0.70, 95% CI 0.37 to 1.32, very low certainty). CONCLUSION: When compared to standard dose, high dose IV TXA probably reduces transfusion requirements with an uncertain effect on thromboembolic events and mortality. LEVEL OF EVIDENCE: Systematic review and meta-analysis, level IV.

Operating room use for emergency general surgery cases: analysis of the Patterns of Complex Emergency General Surgery in Canada study.

BACKGROUND: Access to the operating room (OR) is variable among emergency general surgery (EGS) services, with some having dedicated EGS ORs, and others only a shared queue. Currently in Canada, only a limited number of acute care surgery services have dedicated daytime operating room (OR) access; hence, we aimed to describe the burden of after-hours EGS operating in Canada and differences associated with OR access. METHODS: In this multicentre retrospective cohort study, we used data from a previously conducted study designed to evaluate nonappendiceal, nonbiliary disease across 8 Canadian hospitals. We performed a secondary analysis to describe booking priorities and timing of operative interventions, compare sites with and without access to a dedicated EGS daytime OR, and identify differences in morbidity and mortality based on timing of operative intervention. RESULTS: Among 1244 patients, operations were performed during weekday daytime in 521 cases (41.9%), in the evening in 279 (22.4%), on the weekend in 293 (23.6%) and overnight in 151 (12.1%). Operating room booking priority was more than 2 hours to 8 hours in 657 cases (52.8%), more than 8 hours to 24 hours in 334 (26.9%) and more than 24 hours to 48 hours in 253 (20.3%). Substantial variation in booking priority was observed for the same preoperative diagnoses. Sites with dedicated EGS ORs performed a greater proportion of cases during daytime versus overnight compared to sites without dedicated EGS ORs (198/237 [83.5%] v. 323/435 [74.2%], p = 0.006). No significant differences in outcome were found between cases performed during the daytime, evening and overnight. CONCLUSION: We found considerable variation in OR booking priority within the same preoperative diagnoses among EGS patients in Canada. Sites with dedicated EGS ORs performed more cases during weekday daytime compared to sites without dedicated EGS ORs; however, this study showed no evidence of compromised outcomes based on OR timing.

Retinal gene therapy in RPE-65 gene mediated inherited retinal dystrophy.

BACKGROUND: Voretigene neparvovec (VN) is a gene therapeutic agent for treatment of retinal dystrophies caused by bi-allelic RPE65 mutations. We illustrate, both the benefits and pitfalls associated with ocular gene therapy in the same patient. METHODS: Two eyes of one patient with bi-allelic RPE65 mutations have been treated with VN. The clinical examinations included visual acuity (VA, in normal and low luminance), colour vision, contrast sensitivity, International Society for Clinical Electrophysiology of Vision (ISCEV) standard retinal electrophysiology and dark-adapted full-field stimulus threshold (FST), Goldmann VF analysis and imaging studies, including optical coherence tomography (OCT) and autofluorescence. These were performed at baseline, 2-weeks, 3 and 6-months, 1 and 2-years follow-up. RESULTS: The first eye showed improvement in rod photoreceptor function with increased peripheral and low luminance vision (baseline VA: 0.9 logMAR and 2-years post-operative VA: 0.7 logMAR). The second eye, whilst showing increased light sensitivity, suffered a drop in central vision (at 2-weeks) with loss of foveal photoreceptors as shown by the loss of ellipsoid zone on OCT scan (baseline VA: 0.6, 2-year post-operative VA: 1.2). FST improvements were maintained in both eyes indicating a sustained efficacy of VN with little waning of its effect. CONCLUSIONS: We present a previously unreported adverse complication of subretinal VN therapy in bi-allelic RPE65, indicating a probable immune response in treatment of the second eye, resulting in loss of foveal photoreceptors. This case-series highlights the potential and pitfalls of retinal gene therapy in the same patient. The immune responses of the body to a 'foreign vector', remains a challenge.

Small bowel obstruction in older patients: challenges in surgical management.

BACKGROUND: Small bowel obstruction (SBO) is a common disease affecting all segments of the population, including the frail elderly. Recent retrospective data suggest that earlier operative intervention may decrease morbidity. However, management decisions are influenced by surgical outcomes. Our goal was to determine the current surgical management of SBO in older patients with particular attention to frailty and the timing of surgery. STUDY DESIGN: A retrospective review of patients over the age of 65 with a diagnosis of bowel obstruction (ICD-10 K56*) using the 2016 National Inpatient Sample (NIS). Demographics included age, race, insurance status, medical comorbidities, and median household income by zip code. Elixhauser comorbidities were used to derive a previously published frailty score using the NIS dataset. Outcomes included time to operation, mortality, discharge disposition, and hospital length of stay. Associations between demographics, frailty, timing of surgery, and outcomes were determined. RESULTS: 264,670 patients were included. Nine percent of the cohort was frail; overall mortality was 5.7%. Frail had 1.82 increased odds of mortality (95% CI 1.64-2.03). Hospital LOS was 1.6 times as long for frail patients; a quarter of the frail were discharged home. Frail patients waited longer for surgery (3.58 days vs 2.44 days; p < 0.001). Patients transferred from another facility had increased mortality (aOR 1.58; 95% CI 1.36-1.83). There was an increasing mortality associated with a delay in surgery. CONCLUSION: Patients with frailty and SBO have higher mortality, more frequent discharge to dependent living, longer hospital length of stay, and longer wait to operative intervention. Mortality is also associated with male gender, black race, transfer status from another facility, self-pay status, and low household income. Every day in delay in surgical intervention for those who underwent operations led to higher mortality. If meeting operative indications, older patients with bowel obstruction have a higher chance of survival if they undergo surgery earlier.

Electroretinographic responses to luminance and cone-isolating white noise stimuli in macaques.

Electroretinograms (ERGs) are mass potentials with a retinal origin that can be measured non-invasively. They can provide information about the physiology of the retina. Often, ERGs are measured to flashes that are highly unnatural stimuli. To obtain more information about the physiology of the retina, we measured ERGs with temporal white noise (TWN) stimuli that are more natural and keep the retina in a normal range of operation. The stimuli can be combined with the silent substitution stimulation technique with which the responses of single photoreceptor types can be isolated. We characterized electroretinogram (ERG) responses driven by luminance activity or by the L- or the M-cones. The ERGs were measured from five anesthetized macaques (two females) to luminance, to L-cone isolating and to M-cone isolating stimuli in which luminance or cone excitation were modulated with a TWN profile. The responses from different recordings were correlated with each other to study reproducibility and inter-individual variability. Impulse response functions (IRFs) were derived by cross-correlating the response with the stimulus. Modulation transfer functions (MTFs) were the IRFs in the frequency domain. The responses to luminance and L-cone isolating stimuli showed the largest reproducibility. The M-cone driven responses showed the smallest inter-individual variability. The IRFs and MTFs showed early (high frequency) components that were dominated by L-cone driven signals. A late component was equally driven by L- and M-cone activity. The IRFs showed characteristic similarities and differences relative to flash ERGs. The responses to TWN stimuli can be used to characterize the involvement of retinal cells and pathways to the ERG response. It can also be used to identify linear and non-linear processes.

Cushioned on the way up, controlled on the way down during resuscitative endovascular balloon occlusion of the aorta (REBOA): investigating a novel compliant balloon design for optimizing safe overinflation combined with partial REBOA ability.

Background: There are a variety of devices capable of performing resuscitative endovascular balloon occlusion of the aorta (REBOA), with most containing compliant balloon material. While compliant material is ideal for balloon inflation due to its "cushioning" effect, it can be problematic to "control" during deflation. The COBRA-OS (Control Of Bleeding, Resuscitation, Arterial Occlusion System) was designed to optimize inflation and deflation of its compliant balloon and was tested in vitro and in vivo with respect to its overinflation and partial REBOA abilities. Methods: For overinflation, the COBRA-OS was inflated in three differently sized inner diameter (ID) vinyl tubes until balloon rupture. It was then overinflated in six harvested swine aortas and in all three REBOA zones of three anesthetized swine. For partial REBOA, the COBRA-OS underwent incremental deflation in a pulsatile benchtop aortic model and in zone 1 of three anesthetized swine. Results: For overinflation, compared with the known aortic rupture threshold of 4 atm, the COBRA-OS exceeded this value in only the smallest of the vinyl tubes: 8 mm ID tube, 6.5 atm; 9.5 mm ID tube, 3.5 atm; 13 mm ID tube, 1.5 atm. It also demonstrated greater than 500% overinflation ability without aortic damage in vitro and caused no aortic damage when inflated to maximum inflation volume in vivo. For partial REBOA, the COBRA-OS was able to provide a titration window of between 3 mL and 4 mL in both the pulsatile vascular model (3.4±0.12 mL) and anesthetized swine (3.8±0.35 mL). Discussion: The COBRA-OS demonstrated the ability to have a cushioning effect during inflation combined with titration control on deflation in vitro and in vivo. This study suggests that despite its balloon compliance, both safe overinflation and partial REBOA can be successfully achieved with the COBRA-OS. Level of evidence: Basic science.

Resuscitative endovascular balloon occlusion of the aorta in Canada: a context-specific position paper from the Canadian Collaborative for Urgent Care Surgery (CANUCS).

SummaryResuscitative endovascular balloon occlusion of the aorta (REBOA) is a well-described intervention for noncompressible torso hemorrhage. Several Canadian centres have included REBOA in their hemorrhagic shock protocols. However, REBOA has known complications and equipoise regarding its use persists. The Canadian Collaborative on Urgent Care Surgery (CANUCS) comprises surgeons who provide acute trauma care and leadership in Canada, with experience in REBOA implementation, use, education and research. Our goal is to provide evidence- and experience-based recommendations regarding institutional implementation of a REBOA program, including multidisciplinary educational programs, attention to device and care pathway logistics, and a robust quality assurance program. This will allow Canadian trauma centres to maximize patient benefits and minimize risks of this potentially life-saving technology.

Clinical and genetic findings in TRPM1-related congenital stationary night blindness.

PURPOSE: Congenital stationary night blindness (CSNB) is a heterogeneous group of Mendelian retinal disorders that present in childhood. Biallelic variants altering the protein-coding region of the TRPM1 gene are one of the commonest causes of CSNB. Here, we report the clinical and genetic findings in 10 unrelated individuals with TRPM1-retinopathy. METHODS: Study subjects were recruited through a tertiary clinical ophthalmic genetic service at Manchester, UK. All participants underwent visual electrodiagnostic testing and panel-based genetic analysis. RESULTS: Study subjects had a median age of 8 years (range: 3-20 years). All probands were myopic and had electroretinographic findings in keeping with complete CSNB. Notably, three probands reported no night vision problems. Fourteen different disease-associated TRPM1 variants were detected. One individual was homozygous for the NM_001252024.2 (TRPM1):c.965 + 29G>A variant and a mini-gene assay highlighted that this change results in mis-splicing and premature protein termination. Additionally, two unrelated probands who had CSNB and mild neurodevelopmental abnormalities were found to carry a 15q13.3 microdeletion. This copy number variant encompasses seven genes, including TRPM1, and was encountered in the heterozygous state and in trans with a missense TRPM1 variant in each case. CONCLUSION: Our findings highlight the importance of comprehensive genomic analysis, beyond the exons and protein-coding regions of genes, for individuals with CSNB. When this characteristic retinal phenotype is accompanied by extraocular findings (including learning and/or behavioural difficulties), a 15q13.3 microdeletion should be suspected. Focused analysis (e.g. microarray testing) is recommended to look for large-scale deletions encompassing TRPM1 in patients with CSNB and neurodevelopmental abnormalities.

David V. Feliciano: Contributions to acute care surgery.

SummaryDr. David Feliciano is a surgical triple threat whose contributions to the practice, research and teaching of trauma care have rarely been matched. Canadians benefit from his willingness to educate the country's clinical trauma surgeons and surgeon-scientists from coast to coast.