Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.

Inherited retinal degenerations (IRDs) account for over one third of the underlying causes of blindness in the paediatric population. Patients with IRDs often experience long delays prior to reaching a definitive diagnosis. Children attending a tertiary care paediatric ophthalmology department with phenotypic (i.e., clinical and/or electrophysiologic) evidence suggestive of IRD were contacted for genetic testing during the SARS-CoV-2-19 pandemic using a "telegenetics" approach. Genetic testing approach was panel-based next generation sequencing (351 genes) via a commercial laboratory (Blueprint Genetics, Helsinki, Finland). Of 70 patient samples from 57 pedigrees undergoing genetic testing, a causative genetic variant(s) was detected for 60 patients (85.7%) from 47 (82.5%) pedigrees. Of the 60 genetically resolved IRD patients, 5% (n = 3) are eligible for approved therapies (RPE65) and 38.3% (n = 23) are eligible for clinical trial-based gene therapies including CEP290 (n = 2), CNGA3 (n = 3), CNGB3 (n = 6), RPGR (n = 5) and RS1 (n = 7). The early introduction of genetic testing in the diagnostic/care pathway for children with IRDs is critical for genetic counselling of these families prior to upcoming gene therapy trials. Herein, we describe the pathway used, the clinical and genetic findings, and the therapeutic implications of the first systematic coordinated round of genetic testing of a paediatric IRD cohort in Ireland.

Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population

Inherited retinal degenerations (IRDs) account for over one third of the underlying causes of blindness in the paediatric population. Patients with IRDs often experience long delays prior to reaching a definitive diagnosis. Children attending a tertiary care paediatric ophthalmology department with phenotypic (i.e., clinical and/or electrophysiologic) evidence suggestive of IRD were contacted for genetic testing during the SARS-CoV-2-19 pandemic using a 'telegenetics';approach. Genetic testing approach was panel-based next generation sequencing (351 genes) via a commercial laboratory (Blueprint Genetics, Helsinki, Finland). Of 70 patient samples from 57 pedigrees undergoing genetic testing, a causative genetic variant(s) was detected for 60 patients (85.7%) from 47 (82.5%) pedigrees. Of the 60 genetically resolved IRD patients, 5% (n = 3) are eligible for approved therapies (RPE65) and 38.3% (n = 23) are eligible for clinical trial-based gene therapies including CEP290 (n = 2), CNGA3 (n = 3), CNGB3 (n = 6), RPGR (n = 5) and RS1 (n = 7). The early introduction of genetic testing in the diagnostic/care pathway for children with IRDs is critical for genetic counselling of these families prior to upcoming gene therapy trials. Herein, we describe the pathway used, the clinical and genetic findings, and the therapeutic implications of the first systematic coordinated round of genetic testing of a paediatric IRD cohort in Ireland.

Impact of COVID-19 on Surgical Cases Referred from the Emergency Department in a Tertiary County Hospital in the US

Study Objectives: The onset of the COVID-19 pandemic has caused lower emergency department (ED) volume in the US and globally with many cities experiencing fewer patients seeking health care at hospitals. Initial low ED volumes were attributed to stay-at-home orders because of fear of contracting severe respiratory syndrome coronavirus 2 (SARS-CoV-2). The objective of this study is to assess whether these changes have affected the surgical burden at an urban tertiary county hospital emergency department. Several operating rooms (OR) were converted to COVID units to accommodate the increased COVID patient volume. Characterizing the surgical burden during the COVID pandemic will allow health care clinicians and hospitals to understand how to effectively utilize limited resources. Methods: This is a retrospective review of patients who presented to a large county hospital emergency department and needed surgical intervention from December 10, 2019 until August 1, 2020. The patients were divided into 4 phases and were compared to control data from the previous year. Trauma cases were excluded. The following variables were used to assess for significant differences between the phases: weekly surgical volume, surgical type, and time to operating room. Chi-squared analysis was primarily utilized to compare data between phases. Results: A total of 3636 study participants were included, with an additional 4765 patients from the control phase. During the COVID phase in 2020, surgical volume decreased as much as 48% in April as compared with the control phase in 2019 (Figure 1). Patients needing surgical intervention during the COVID phase had fewer comorbidities than those who presented in the pre-COVID phase. Across the 4 phases, this population had increasing percentages of OB/GYN cases (6.2%, 6.3%, 7.2%, 7.4% for Phases 1, 2, 3, 4 respectively. Notably, there was an overall decrease in laparoscopic cholecystectomy (14.2%, 14.1%, 12.3%, 9.9%) cases. Significant differences in orthopedic (p = 0.008), podiatry (p = 0.015), and burn (p = 0.0009) cases were found during the COVID phases as compared to the control phases. The time to OR was also significantly less during the COVID phases than in the pre-COVID (p < 0.05) and control (p = 0.0024) phases. Conclusion: There was a decrease in surgical volume during the COVID phase and improved time to OR. The increases in burns, podiatry, and orthopaedic cases during the pandemic may suggest an epidemiological change of injuries treated in the ED. Concerns have also been raised for domestic violence orthopedic-related injuries. Patients may have been less likely to seek care in the ED due to fear of contracting SARS-CoV-2. Anticipating the types of surgical cases and volume will help the hospital staff allocate resources more effectively for similar events in the future. [Formula presented]

Decreased Emergency Department Utilization by Lower Socioeconomic Status Population as a Result of the COVID-19 Pandemic

Study Objective: The SARS-CoV-2 (which causes COVID-19) pandemic has resulted in lower emergency department (ED) volumes. It has precipitated business and school closures along with the implementation of physical distancing measures, which culminated in a Shelter in-Place Order (SIPO) issued for a major urban area county in March 2020. The objective of this study was to determine the effect on access to healthcare by patients of different socioeconomic status by examining differences in ED volume by zip code stratified by the SocioNeeds Index. Methods: This retrospective chart review examines whether there was a quantitative change in patient visits to an urban, tertiary county hospital ED from 2019-2020 by zip codes. The inclusion criterion was any ED visits from a county resident, and the exclusion criterion was any blank, alphanumeric, or PO box zip codes including zip codes located outside of Dallas County. We mapped daily patient visits by zip code for four phases: Phase 1 was the 3 months preceding the first COVID-19 case’s announcement in Dallas, Phase 2 began with the first COVID case, Phase 3 encompassed when the SIPO was in effect for Dallas County, and Phase 4 included the three months following the expiration of the SIPO. The SocioNeeds Index rates each zip code by socioeconomic status, specific to this county. We compared this data to records over the same time period from the previous year to control for seasonal variation in the absence of a pandemic. Results: There were 275,756 ED patient visits included in this study. The results indicate a statistically significant decrease in ED visits occurred in all zip codes during the pandemic: 24% between Phase 1 and 4 (p<0.0001) in 2020. Additionally, there was a decrease in visits after the first case in Dallas: Phase 2 (-14%, p<0.0001), Phase 3 (-41%, p<0.0001) and Phase 4 (-25%, p<0.0001) when compared to 2019 but an increase in visits (36%, p<0.0001) in 2020 once the SIPO expired. Zip codes with highest need based on poverty, income, unemployment, occupation, education and language (weighted to correlate with preventable hospitalization and premature death rates) were found to have greater reductions in visits whereas zip codes which with the lowest needs saw a 15% increase in visits during the SIPO. The geographic distribution of visits indicate that most zip codes saw a reduction in visits over Phases 2 and 3 (especially zip codes further from the ED) and an increase in visits during Phase 4 but never recovered to pre-pandemic values. Conclusion: Overall, a significant decrease in ED visits per zip code was observed relative to a non-pandemic year in most zip codes except those with the highest socioeconomic status, suggesting that the virus and SIPO deterred patients disproportionately from the higher needs communities from accessing healthcare. These results could have implications for future pandemic public health messaging and targeted outreach to communities with barriers to healthcare access. [Formula presented]