CTPA ordering trends in local emergency departments: are they increasing and did they increase as a result of COVID-19?

PURPOSE: Ordering trends for computed tomographic pulmonary angiogram (CTPA) studies by local emergency departments were assessed, along with the impact of the COVID-19 pandemic on these ordering trends and CTPA positivity rates. METHODS: A retrospective quantitative analysis was performed on all CTPA studies ordered between February 2018 - January 2022 by three local tertiary care emergency rooms to investigate for pulmonary embolism. Data collected from the first two years of the COVID-19 pandemic was compared to the two years prior to the pandemic to assess for significant changes in ordering trends and positivity rates. RESULTS: The overall number of CTPA studies ordered increased from 534 studies in 2018-2019 to 657 in 2021-2022 and the rate of positive diagnosis of acute pulmonary embolism varied between 15.8% to 19.5% over the four years studied. There was no statistically significant difference in the number of CTPA studies ordered when comparing the first two years of the COVID-19 pandemic to the two years immediately prior; however, the positivity rate was significantly higher during the first two years of the pandemic. CONCLUSION: Over the studied period from 2018-2022, the overall number of CTPA studies ordered by local emergency departments has increased, in line with literature reports from other locations. There was also a correlation between the onset of the COVID-19 pandemic and CTPA positivity rates, possibly secondary to the prothrombotic nature of this infection or the increase in sedentary lifestyles during lockdown periods.

Plasma cell myeloma following a prior diagnosis of chronic lymphocytic leukemia/small lymphocytic lymphoma.

A 69-year-old man presented with plasma cell myeloma (PCM) 4 years after the treatment of chronic lymphocytic leukemia (CLL). Light chain expressions in the two tumors were different suggesting unrelated cell of origin clonality. Few reports have been added to the literature describing synchronous CLL and PCM in a patient.

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.

We report the design of a targeted resequencing panel for monogenic dyslipidemias, LipidSeq, for the purpose of replacing Sanger sequencing in the clinical detection of dyslipidemia-causing variants. We also evaluate the performance of the LipidSeq approach versus Sanger sequencing in 84 patients with a range of phenotypes including extreme blood lipid concentrations as well as additional dyslipidemias and related metabolic disorders. The panel performs well, with high concordance (95.2%) in samples with known mutations based on Sanger sequencing and a high detection rate (57.9%) of mutations likely to be causative for disease in samples not previously sequenced. Clinical implementation of LipidSeq has the potential to aid in the molecular diagnosis of patients with monogenic dyslipidemias with a high degree of speed and accuracy and at lower cost than either Sanger sequencing or whole exome sequencing. Furthermore, LipidSeq will help to provide a more focused picture of monogenic and polygenic contributors that underlie dyslipidemia while excluding the discovery of incidental pathogenic clinically actionable variants in nonmetabolism-related genes, such as oncogenes, that would otherwise be identified by a whole exome approach, thus minimizing potential ethical issues.

Western Database of Lipid Variants (WDLV): a catalogue of genetic variants in monogenic dyslipidemias.

BACKGROUND: Next-generation sequencing (NGS) is nearing routine clinical application, especially for diagnosis of rare monogenic cardiovascular diseases. But NGS uncovers so much variation in an individual genome that filtering steps are required to streamline data management. The first step is to determine whether a potential disease-causing variant has been observed previously in affected patients. METHODS: To facilitate this step for lipid disorders, we developed the Western Database of Lipid Variants (WDLV) of 2776 variants in 24 genes that cause monogenic dyslipoproteinemias, including conditions characterized primarily by either high or low low-density lipoprotein cholesterol, high or low high-density lipoprotein cholesterol, high triglyceride, and some miscellaneous disorders. We incorporated quality-control steps to maximize the likelihood that a listed mutation was disease causing. RESULTS: The details of each mutation found in a dyslipidemia, together with a mutation map of the causative genes, are shown in graphical display items. CONCLUSIONS: WDLV will help clinicians and researchers determine the potential pathogenicity of mutations discovered by DNA sequencing of patients or research participants with lipid disorders.