Genetic Risk Factors and Clinical Outcomes in Childhood Eye Cancers: A Review.

Childhood eye cancers, although rare, present substantial health challenges, affecting the pediatric population with a remarkable impact on their lives and families. This comprehensive review provides insights into the various types of ocular tumors, primarily focusing on malignant eye tumors, their genetic predispositions, and advancements in managing these conditions. Understanding the genetic risk factors is crucial for early detection, risk assessment, and the development of targeted therapies. This review discusses genome-wide association (GWAS) and next-generation sequencing (NGS) studies to find common and rare genetic variants. Furthermore, it also explores the outcomes and implications of these genetic discoveries in treating pediatric ocular cancer. These findings underscore the significance of genetic research in guiding early interventions and improving outcomes in children with ocular cancers.

Extracorporeal life support in trauma: Indications and techniques.

BACKGROUND: Clarity about indications and techniques in extracorporeal life support (ECLS) in trauma is essential for timely and effective deployment, and to ensure good stewardship of an important resource. Extracorporeal life support deployments in a tertiary trauma center were reviewed to understand the indications, strategies, and tactics of ECLS in trauma. METHODS: The provincial trauma registry was used to identify patients who received ECLS at a Level I trauma center and ECLS organization-accredited site between January 2014 and February 2021. Charts were reviewed for indications, technical factors, and outcomes following ECLS deployment. Based on this data, consensus around indications and techniques for ECLS in trauma was reached and refined by a multidisciplinary team discussion. RESULTS: A total of 25 patients underwent ECLS as part of a comprehensive trauma resuscitation strategy. Eighteen patients underwent venovenous ECLS and seven received venoarterial ECLS. Nineteen patients survived the ECLS run, of which 15 survived to discharge. Four patients developed vascular injuries secondary to cannula insertion while four patients developed circuit clots. On multidisciplinary consensus, three broad indications for ECLS and their respective techniques were described: gas exchange for lung injury, extended damage control for severe injuries associated with the lethal triad, and circulatory support for cardiogenic shock or hypothermia. CONCLUSION: The three broad indications for ECLS in trauma (gas exchange, extended damage control and circulatory support) require specific advanced planning and standardization of corresponding techniques (cannulation, circuit configuration, anticoagulation, and duration). When appropriately and effectively integrated into the trauma response, ECLS can extend the damage control paradigm to enable the management of complex multisystem injuries. LEVEL OF EVIDENCE: Therapeutic/Care Management; Level IV.

5 Slides in 5 Minutes: Incorporating CanMEDS Competencies on Acute Care Surgery.

BACKGROUND: The University of British Columbia (UBC) Division of General Surgery developed an initiative entitled "5-in-5s" to improve educational opportunities on the Acute Care Surgery (ACS) service. We examined whether 5-in-5s are felt to be a valuable teaching tool, and evaluated their ability to incorporate CanMEDS competencies within the General Surgery program. METHODS: A web-based survey was distributed to all general surgery trainees and staff on ACS that have participated in 5-in-5s. RESULTS: A total of 37 responses were collected (62% response rate). All respondents felt 5-in-5s were valuable overall. Four of the seven CanMEDS competencies were evaluated. About 100% felt their knowledge was positively impacted by presenting, and 80% by attending alone. About 71% of respondents agreed that 5-in5s provided opportunities for health advocacy, 50% for collaboration, and 36% for leadership. CONCLUSION: We identified 5-in-5s as a valuable teaching method and a novel approach to integrate CanMEDS competencies into ACS training.

Congenital central corneal dermoid: A rare entity.

BACKGROUND: To understand the pathogenesis of a central corneal dermoid (CD) in a 12-day-old child, a comparison of CD specimen was done with limbal dermoid (LD) and cadaveric corneal (CC) specimens by immuno-histochemical staining. METHODS: The child underwent penetrating keratoplasty for visual rehabilitation. The corneal tissue was sent for histo-pathological and immunochemistry evaluation. The corneal specimen obtained was compared the origin of central CD with LD and CC based on their antigenic expression profile. RESULTS: Clinically over a period of 75 months post operatively the child maintained a clear graft. Hematoxylin and Eosin staining of LD had a typical morphology including stratified keratinized epithelium, hair shaft with pilo sebaceous glands, eccrine sweat glands, lymphocytes, and blood vessels. Immuno-histochemical staining showed positive stain for Cytokeratin 3 epithelial marker in the epithelium of CC, LD, and CD. Smooth muscle maker (SMA) was identified in LD and CD but not in the CC as it is devoid of blood vessels. Limbal stem cell maker (P63) was detected only in LD. Vimentin, a mesenchymal stem cell marker stained positively in all three tissues of CC, LD, and CD. CONCLUSIONS: Corneal dermoid showed positive staining for mesodermal tissue components compared to both ectodermal and mesodermal components in limbal dermoid suggesting possibly a different origin of corneal dermoid.

Loss of PRSS56 function leads to ocular angle defects and increased susceptibility to high intraocular pressure.

Glaucoma is a leading cause of blindness, affecting up to 70 million people worldwide. High intraocular pressure (IOP) is a major risk factor for glaucoma. It is well established that inefficient aqueous humor (AqH) outflow resulting from structural or functional alterations in ocular drainage tissues causes high IOP, but the genes and pathways involved are poorly understood. We previously demonstrated that mutations in the gene encoding the serine protease PRSS56 induces ocular angle closure and high IOP in mice and identified reduced ocular axial length as a potential contributing factor. Here, we show that Prss56-/- mice also exhibit an abnormal iridocorneal angle configuration characterized by a posterior shift of ocular drainage structures relative to the ciliary body and iris. Notably, we show that retina-derived PRSS56 is required between postnatal days 13 and 18 for proper iridocorneal configuration and that abnormal positioning of the ocular drainage tissues is not dependent on ocular size reduction in Prss56-/- mice. Furthermore, we demonstrate that the genetic context modulates the severity of IOP elevation in Prss56 mutant mice and describe a progressive degeneration of ocular drainage tissues that likely contributes to the exacerbation of the high IOP phenotype observed on the C3H/HeJ genetic background. Finally, we identify five rare PRSS56 variants associated with human primary congenital glaucoma, a condition characterized by abnormal development of the ocular drainage structures. Collectively, our findings point to a role for PRSS56 in the development and maintenance of ocular drainage tissues and IOP homeostasis, and provide new insights into glaucoma pathogenesis.

Tele-mentored damage-control and emergency trauma surgery: A feasibility study using live-tissue models.

BACKGROUND: Damage-control and emergency surgical procedures in trauma have the potential to save lives. They may occasionally not be performed due to clinician inexperience or lack of comfort and knowledge. METHODS: Canadian Armed Forces (CAF) non-surgeon Medical Officers (MOs) participated in a live tissue training exercise. They received tele-mentoring assistance using a secure video-conferencing application on a smartphone/tablet platform. Feasibility of tele-mentored surgery was studied by measuring their effectiveness at completing a set series of tasks in this pilot study. Additionally, their comfort and willingness to perform studied procedures was gauged using pre- and post-study surveys. RESULTS: With no pre-procedural teaching, participants were able to complete surgical airway, chest tube insertion and resuscitative thoracotomy with 100% effectiveness with no noted complications. Comfort level and willingness to perform these procedures were improved with tele-mentoring. Participants felt that tele-mentored surgery would benefit their performance of resuscitative thoracotomy most. CONCLUSION: The use of tele-mentored surgery to assist non-surgeon clinicians in the performance of damage-control and emergency surgical procedures is feasible. More study is required to validate its effectiveness.

Intentional injury and violence in Cape Town, South Africa: an epidemiological analysis of trauma admissions data.

BACKGROUND: Injury is a truly global health issue that has enormous societal and economic consequences in all countries. Interpersonal violence is now widely recognized as important global public health issues that can be addressed through evidence-based interventions. In South Africa, as in many low- and middle-income countries (LMIC), a lack of ongoing, systematic injury surveillance has limited the ability to characterize the burden of violence-related injury and to develop prevention programmes. OBJECTIVE: To describe the profile of trauma presenting to the trauma centre of Groote Schuur Hospital in Cape Town, South Africa - relating to interpersonal violence, using data collected from a newly implemented surveillance system. Particular emphasis was placed on temporal aspects of injury epidemiology, as well as age and sex differentiation. DESIGN: Data were collected prospectively using a standardized trauma admissions form for all patients presenting to the trauma centre. An epidemiological analysis was conducted on 16 months of data collected from June 2010 to October 2011. RESULTS: A total of 8445 patients were included in the analysis, in which the majority were violence-related. Specifically, 35% of records included violent trauma and, of those, 75% of victims were male. There was a clear temporal pattern: a greater proportion of intentional injuries occur during the night, while unintentional injury peaks late in the afternoon. In total, two-third of all intentional trauma is inflicted on the weekends, as is 60% of unintentional trauma. Where alcohol was recorded in the record, 72% of cases involved intentional injury. Sex was again a key factor as over 80% of all records involving alcohol or substance abuse were associated with males. The findings highlighted the association between violence, young males, substance use, and weekends. CONCLUSIONS: This study provides the basis for evidence-based interventions to reduce the burden of intentional injury. Furthermore, it demonstrates the value of locally appropriate, ongoing, systematic public health surveillance in LMIC.

Trauma center quality improvement programs in the United States, Canada, and Australasia.

OBJECTIVE: To compare quality improvement (QI) programs of trauma centers in 4 high-income countries. BACKGROUND: Injury is a leading cause of morbidity and mortality in countries around the world, but patient outcomes vary among countries with similar systems of trauma care. METHODS: We surveyed medical directors and program managers from 330 trauma centers verified by professional trauma organizations in the United States (n = 263), Canada (n = 46), and Australasia (Australia, n = 18; New Zealand, n = 3) regarding their QI programs. Quality indicators were requested from all centers that measured quality of care. Follow-up interviews were performed with 75 centers purposively sampled across 6 baseline criteria. RESULTS: A total of 251 centers (76% response rate) responded to the survey, with a similar distribution across countries. Trauma centers in the United States were more likely than those in Canada and Australasia to report measuring quality indicators (100% vs 94% vs 93%, P = 0.008), using report cards (53% vs 33% vs 31%, P = 0.033) and benchmarking (81% vs 61% vs 69%, P = 0.019). Centers in all 3 regions primarily used hospital process and outcome measures designed to establish whether care was safe (98% vs 97% vs 75%, P = 0.008), effective (97% vs 97% vs 92% P = 0.399), timely (88% vs 100% vs 92%, P = 0.055), and efficient (95% vs 100% vs 83%, P = 0.082). QI programs were largely local in nature, used different criteria to identify patients under QI purview, and employed diverse quality indicators and improvement strategies. Few centers evaluated the effectiveness of their QI program. CONCLUSIONS: This study provides the first international comparison of trauma center QI programs and demonstrates broad implementation in verified trauma centers in the United States, Canada, and Australasia. Significant variation exists in how trauma centers perform QI activities. Opportunities exist for improving and standardizing QI processes.

Mass casualty modelling: a spatial tool to support triage decision making.

BACKGROUND: During a mass casualty incident, evacuation of patients to the appropriate health care facility is critical to survival. Despite this, no existing system provides the evidence required to make informed evacuation decisions from the scene of the incident. To mitigate this absence and enable more informed decision making, a web based spatial decision support system (SDSS) was developed. This system supports decision making by providing data regarding hospital proximity, capacity, and treatment specializations to decision makers at the scene of the incident. METHODS: This web-based SDSS utilizes pre-calculated driving times to estimate the actual driving time to each hospital within the inclusive trauma system of the large metropolitan region within which it is situated. In calculating and displaying its results, the model incorporates both road network and hospital data (e.g. capacity, treatment specialties, etc.), and produces results in a matter of seconds, as is required in a MCI situation. In addition, its application interface allows the user to map the incident location and assists in the execution of triage decisions. RESULTS: Upon running the model, driving time from the MCI location to the surrounding hospitals is quickly displayed alongside information regarding hospital capacity and capability, thereby assisting the user in the decision-making process. CONCLUSIONS: The use of SDSS in the prioritization of MCI evacuation decision making is potentially valuable in cases of mass casualty. The key to this model is the utilization of pre-calculated driving times from each hospital in the region to each point on the road network. The incorporation of real-time traffic and hospital capacity data would further improve this model.

Access to trauma systems in Canada.

BACKGROUND: Trauma is a leading cause of morbidity, potential years of life lost and health care expenditure in Canada and around the world. Trauma systems have been established across North America to provide comprehensive injury care and to lead injury control efforts. We sought to describe the current status of trauma systems in Canada and Canadians' access to acute, multidisciplinary trauma care. METHODS: A national survey was used to identify the locations and capabilities of adult trauma centers across Canada and to identify the catchment populations they serve. Geographic information science methods were used to map the locations of Level I and Level II trauma centers and to define 1-hour road travel times around each trauma center. Data from the 2006 Canadian Census were used to estimate populations within and outside 1-hour access to definitive trauma care. RESULTS: In Canada, 32 Level I and Level II trauma centers provide definitive trauma care and coordinate the efforts of their surrounding trauma systems. Most Canadians (77.5%) reside within 1-hour road travel catchments of Level I or Level II centers. However, marked geographic disparities in access persist. Of the 22.5% of Canadians who live more than an hour away from a Level I or Level II trauma centers, all are in rural and remote regions. DISCUSSION: Access to high quality acute trauma care is well established across parts of Canada but a clear urban/rural divide persists. Regional efforts to improve short- and long-term outcomes after severe trauma should focus on the optimization of access to pre-hospital care and acute trauma care in rural communities using locally relevant strategies or novel care delivery options.

Analyzing the effects of place on injury: Does the choice of geographic scale and zone matter?

BACKGROUND: Recent studies have shown that the morbidity and mortality associated with injury of pedestrians are inversely related to socio-economic status (SES). However, in drawing inferences from this association, investigators have paid little attention to the modifiable artifacts related to scale and how the data are partitioned. The purpose of this population-based study was to identify the relation between SES and incidence patterns of pedestrian injury at 4 different geographic scales. METHODS: We used a Poisson generalized linear model, stratified by age and sex, to analyze the relation between each of 4 area measures of SES and incidence patterns of pedestrian injuries occurring in metropolitan Vancouver between 1 January 2001 and 31 March 2006. The 4 area measures of SES were based on boundaries of dissemination areas, census tracts, custom-defined census tracts (generated by reassignment of dissemination area boundaries by means of a geographic information system) and census subdivisions of the Canadian census. We measured the SES of the location where the injury occurred with the Vancouver Area Neighbourhood Deprivation Index. RESULTS: A total of 262 injuries in adults (18 years of age or older) were analyzed. Among adult men, the odds ratio (OR) for injury of pedestrians at the scale of dissemination area was 4.93 (95% confidence interval [CI] 2.89-8.42) for areas having the lowest SES relative to those with the highest SES. For the same population, the OR for injury was lower with increasing aggregation of data: 2.33 (95% CI 1.45-3.74) when census tracts were used, 3.26 (95% CI 2.06-5.16) when modified census tracts were used and 1.27 (95% CI 0.47-3.45) when census subdivisions were used. Among adult women, the OR for pedestrian injury by SES was highest at the scale of census subdivision within medium-low SES areas (4.33, 95% CI 1.23-15.22). At the census subdivision scale, the relation between SES and incidence pattern of injury was not consistent with findings at smaller geographic scales, and the OR for injury decreased with each increase in SES. INTERPRETATION: In this analysis, there was significant variability when different administrative boundaries were applied as proxy measures of the effects of place on incidence patterns of injury. The hypothesized influence of SES on prevalence of pedestrian injury followed a statistically significant socio-economic gradient when analyzed using small-area boundaries of the census. However, researchers should be aware of the inherent variability that remains even among the more homogenous population units.

Modelling optimal location for pre-hospital helicopter emergency medical services.

BACKGROUND: Increasing the range and scope of early activation/auto launch helicopter emergency medical services (HEMS) may alleviate unnecessary injury mortality that disproportionately affects rural populations. To date, attempts to develop a quantitative framework for the optimal location of HEMS facilities have been absent. METHODS: Our analysis used five years of critical care data from tertiary health care facilities, spatial data on origin of transport and accurate road travel time catchments for tertiary centres. A location optimization model was developed to identify where the expansion of HEMS would cover the greatest population among those currently underserved. The protocol was developed using geographic information systems (GIS) to measure populations, distances and accessibility to services. RESULTS: Our model determined Royal Inland Hospital (RIH) was the optimal site for an expanded HEMS - based on denominator population, distance to services and historical usage patterns. CONCLUSION: GIS based protocols for location of emergency medical resources can provide supportive evidence for allocation decisions - especially when resources are limited. In this study, we were able to demonstrate conclusively that a logical choice exists for location of additional HEMS. This protocol could be extended to location analysis for other emergency and health services.

Implementation of a nutrition support protocol increases the proportion of mechanically ventilated patients reaching enteral nutrition targets in the adult intensive care unit.

BACKGROUND: Despite the evidence that enteral feeding reduces morbidity in critically ill patients and is preferred to parenteral nutrition, the delivery of enteral nutrition (EN) is often inadequate. The purpose of this study was to determine whether implementation of an evidence-based nutrition support (NS) protocol could improve EN delivery. METHODS: An NS protocol incorporating available scientific evidence; data from a retrospective survey of 30 intensive care unit (ICU) patients; and input from dietitians, intensive care physicians, surgeons, nurses, and pharmacists was developed. The impact of this protocol was evaluated prospectively in 123 consecutive adult patients admitted to a multisystem ICU who were eligible for EN. RESULTS: The percentage of patients who received at least 80% of their estimated energy requirements during their ICU stay increased from 20% before implementation of the NS protocol to 60% after implementation (p < .001). After adjusting for confounders, those in the postimplementation group received significantly more kcal/kg/d than the preimplementation group (3.71 kcal/kg/d; 95% confidence interval, 1.64 to 5.78; p = .001). Parenteral nutrition use [corrected] was reduced in the postimplementation group (1.6 vs 13%, p = .02). There was no difference in time to initiation of enteral nutrition between groups (1.76 days preprotocol vs 1.44 days postprotocol implementation, p = .9). CONCLUSIONS: The development and use of an evidence-based NS protocol improved the proportion of enterally fed ICU patients meeting their calculated nutrition requirements.