ABSTRACT
Molecular diagnostic testing using DNA from saliva specimens markedly increased recently due to the ease of sample collection, compared to peripheral blood, during the COVID-19 pandemic. Published literature suggests that DNA from saliva is primarily composed of epithelial cells (70-90%), with the remainder being primarily leukocytes (10-30%). Here, we describe a case followed by our clinicians since 2007 characterized by developmental delay, autism, a somewhat coarse face with full cheeks, up-slanting palpebral fissures, thin corpus callosum, and a full-scale IQ of 60. This patient had an extensive work-up including high-resolution blood chromosome analysis, FISH for 22q microdeletion, three separate microarrays (various platforms), FMR1 molecular analysis, urine oligosaccharides analysis, an autism gene panel by NGS, and whole-exome sequencing, none of which identified a satisfactory diagnosis. These tests were performed on two peripheral blood samples collected at different times. Recently, a new microarray was ordered on a saliva sample from this patient, and an apparently non-mosaic gain of 18p was detected. The possibility of a sample swap was eliminated by comparing the SNP genotype of the saliva sample to the previously tested blood sample. The limit of detection for mosaicism in genomic microarrays is around 20%, so it is possible that the 18p duplication was present at a level undetectable by microarray in the peripheral blood samples. This case suggests that the differences between DNA obtained from saliva and peripheral blood may be, in some cases, more drastic than previously recognized. By testing primarily with DNA from peripheral blood, significant mosaic abnormalities may go undetected. Copyright © 2022
ABSTRACT
Introduction: Many patients with Crohn’s disease (CD) and ulcerative colitis (UC) require immunosuppressant therapies. There is an established increased risk of infection with these therapies, especially when used in combination. COVID-19 has further focused attention on risk of therapy and infection;in particular risks of intensive care unit (ICU) stay and death. We examined data on immunosuppressant medications, hospital admissions, ICU admission and death in our population-based database in the 10 years immediately prior to COVID-19.Methods: The Lothian IBD Registry (LIBDR) contains an accurate record of all prevalent IBD patients in the NHS Lothian capture area (population 900,000) [1]. Pre-existing databases and electronic health records were linked by community health index (CHI) number, a unique identifier covering 100% of the population, for admissions between 01/01/2010 and 31/12/2019. All admissions <24hour duration were excluded. All diagnosis codes were recorded using the ICD-10 system. Primary care prescription data was recorded using British National Formulary (BNF) codes. Biologic prescribing data was available from secondary care registries. Logistic regression using Cox Proportional Hazards model was used to identify risk factors predicting death or admission to intensive care due to infection following admission for an infection.Results: There were 17,221 non-day case hospital admissions for 4,660 of the 8,381 patients in the LIBDR prevalent cohort in the study period. 2,964 of these admissions for 1,489 patients were for an infection. Respiratory, urinary tract and gastrointestinal infections accounted for almost 75% of infection admissions with no differences between sex or diagnosis. There were 88 admissions to ICU due to infection for 79 patients with respiratory infection being the most common. There were 119 patients who died within 30 days of an admission for infection who had an infection listed on their death certificate. For 1,511 of the admissions, the patient had attended a secondary care IBD clinic within the preceding 18 months. A primary care prescription for steroids, opioids, thiopurines or antibiotics was issued within 90 days preceding 2,236 admissions for infection. 184 patients were on biologic therapy at the time of ITU admission or death. Positive blood cultures (OR 6.02, p<0.001), opioid therapy (OR 3.08, p=0.014) and being underweight (OR 2.61, p=0.003) were predictive of poor outcome while attending secondary care follow up for IBD was protective (OR 0.62, p=0.049). Biologic therapy was not associated with risk of ITU admission or death due to infection.Conclusions: There is a significant burden of infection in the IBD population and it is the most common reason for their admission. Opioid therapy and low body mass index are independent predictors of severity of infection. 1 Jones, G.R. et al. Gut (2019)(Figure presented)
ABSTRACT
Background: The COVID-19 pandemic has changed the way orthopaedics programs are educating and recruiting residents and applicants. With an increased focus on online and virtual programming, there has been an uptick in social media usage by orthopaedics residencies as a means of communicating with applicants. This study investigated the growth in utilization of social media platforms by residency programs since the beginning of the COVID-19 pandemic. Methods: Instagram and Twitter were queried for each orthopaedic surgery residency program. It was determined if each program with a corresponding social media account was created before or after March 1, 2020. The number of posts per month were tabulated for accounts that existed prior to March 1, 2020. Results: 187 orthopaedic surgery residency programs were identified using the AAMC ERAS database. Of these programs, 74 (41.6%) were found to have an Instagram profile, and 50 (26.7%) were found to have a Twitter page. Of the 74 Instagram profiles, 45 were created after March 1, 2020, representing a 155% increase. Of the 50 Twitter pages, 15 were created after March 1, 2020, representing a 43% increase. Instagram accounts that were active before the pandemic had a 96% increase in the number of posts per month, on average, after March 1, 2020. Conclusion: Over one-third of programs are utilizing social media for recruitment purposes. There has been an 155% increase in Instagram and 43% increase in Twitter usage by residency programs since March 1, 2020. Instagram accounts created prior to the pandemic also demonstrated a near doubling of increased utilization after March. This represents a new, cost-effective way to connect with applicants in a time when in-person interactions are limited. Level of Evidence: III.
ABSTRACT
Introduction: In 2019, the United States Census estimated 8% (26.1 million) people were without health insurance. Further, an estimated 3.5 million people became/remained uninsured from COVID-19-related job losses. Patients with OSA that belong to a lower socioeconomic status (SES) are less likely to have access to healthcare and may be under or uninsured. Untreated OSA can lead to increased risk of symptoms and associated co-morbidities. Resources to help the uninsured to obtain PAP therapy were available pre-COVID, including two main sources, American Sleep Apnea Association (ASAA) and our local branch serving central Ohio, The Breathing Association. However, the COVID pandemic limited access or closed these programs. Our Sleep Medicine clinics saw 148 uninsured OSA patients between March- December, 2020. Given these difficulties, we re-evaluated available resources for the uninsured. Methods: We conducted a search for current low cost ($100 or less) PAP therapy options for the uninsured, March 15, 2020-December 3, 2020, by: (1) contacting pre-COVID-19 resources, including Durable Medical Equipment (DME) providers, (2) consulting social work, and (3) completing a librarian assisted web-search not limited to PubMed, Embase, CINAHL for academic related articles and electronic searches using a combination of English complete word and common keywords: OSA, PAP, uninsured, no insurance, cheap, medically uninsured, resources, self-pay, low-income, financial assistance, US. Resources such as private sellers were not investigated. Results: During COVID-19, assistance for PAP machines/supplies have closed or required a protracted wait-time. Options including refurbished items range from low, one-time fixed cost or incomebased discounts from: one local charity (Joint Organization for Inner-City Needs) and DME (Dasco), and four national entities (ASAA, Second Wind CPAP, Reggie White Foundation, CPAP Liquidators). An Electronic Health Record-based tool was developed and distributed to increase provider awareness of pandemic available resources. Conclusion: Untreated OSA is associated with increased risk of cardiovascular co-morbidities. Access and cost may limit treatment in OSA patients from a lower SES. The COVID-19 pandemic has shuttered programs providing discount PAP and supplies, leaving fewer resources for these patients, thus further widening this health care disparity. Alternatives are needed and current resources are not easily accessible for providers and patients.
ABSTRACT
The psychological impact of the COVID-19 pandemic on coronavirus patients, health care workers, and the general population is clear. Relatively few studies have, however, considered the impact of the pandemic on those with pre-existing mental health conditions. Therefore, the present study investigates the personal experiences of those with anxiety, depression, and obsessive-compulsive disorder during COVID-19. We conducted a qualitative study utilising Reddit discussion forum posts. We conducted three separate thematic analyses from 130 posts in subreddit forums aimed for people identifying with anxiety, depression, and obsessive-compulsive disorder. We identified a number of similar discussion forum themes (e.g., COVID-19 intensifying symptoms and a lack of social support), as well as themes that were unique to each forum type (e.g., hyperawareness and positive experiences during the pandemic). Findings should guide future practice and the support provided to those living with mental distress.