Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report.

BACKGROUND: Noonan Syndrome is caused by variants in a variety of genes found in the RAS/MAPK pathway. As more causative genes for Noonan Syndrome have been identified, more phenotype variability has been found, particularly congenital heart defects. Here, we report a case of dilated coronary arteries in a pediatric patient with a RIT1 variant to add to the body of literature around this rare presentation of Noonan Syndrome.  CASE PRESENTATION: A 2-month-old female was admitted due to increasing coronary artery dilation and elevated inflammatory markers. Rapid whole genome sequencing was performed and a likely pathogenic RIT1 variant was detected. This gene has been associated with a rare form of Noonan Syndrome and associated heart defects. Diagnosis of the RIT1 variant also gave reassurance about the patient's cardiac findings and allowed for more timely discharge as she was discharged to home the following day.  CONCLUSIONS: This case highlights the importance of the association between dilated coronary arteries and Noonan syndrome and that careful cardiac screening should be advised in patients diagnosed with Noonan syndrome. In addition, this case emphasizes the importance of involvement of other subspecialities to determine a diagnosis. Through multidisciplinary medicine, the patient was able to return home in a timely manner with a diagnosis and the reassurance that despite her dilated coronary arteries and elevated inflammatory markers there was no immediate concern to her health.

High-Density Blood Transcriptomics Reveals Precision Immune Signatures of SARS-CoV-2 Infection in Hospitalized Individuals.

The immune response to COVID-19 infection is variable. How COVID-19 influences clinical outcomes in hospitalized patients needs to be understood through readily obtainable biological materials, such as blood. We hypothesized that a high-density analysis of host (and pathogen) blood RNA in hospitalized patients with SARS-CoV-2 would provide mechanistic insights into the heterogeneity of response amongst COVID-19 patients when combined with advanced multidimensional bioinformatics for RNA. We enrolled 36 hospitalized COVID-19 patients (11 died) and 15 controls, collecting 74 blood PAXgene RNA tubes at multiple timepoints, one early and in 23 patients after treatment with various therapies. Total RNAseq was performed at high-density, with >160 million paired-end, 150 base pair reads per sample, representing the most sequenced bases per sample for any publicly deposited blood PAXgene tube study. There are 770 genes significantly altered in the blood of COVID-19 patients associated with antiviral defense, mitotic cell cycle, type I interferon signaling, and severe viral infections. Immune genes activated include those associated with neutrophil mechanisms, secretory granules, and neutrophil extracellular traps (NETs), along with decreased gene expression in lymphocytes and clonal expansion of the acquired immune response. Therapies such as convalescent serum and dexamethasone reduced many of the blood expression signatures of COVID-19. Severely ill or deceased patients are marked by various secondary infections, unique gene patterns, dysregulated innate response, and peripheral organ damage not otherwise found in the cohort. High-density transcriptomic data offers shared gene expression signatures, providing unique insights into the immune system and individualized signatures of patients that could be used to understand the patient's clinical condition. Whole blood transcriptomics provides patient-level insights for immune activation, immune repertoire, and secondary infections that can further guide precision treatment.

Patient Body Mass Index and Occupational Radiation Doses to Circulating Nurses During Coronary Angiography.

BACKGROUND: Patient BMI is associated with radiation doses received by interventional cardiologists, yet the association between patient BMI and nurse radiation doses is unknown. This study evaluated the association between patient body mass index (BMI) and nurse radiation doses during coronary angiography. METHODS: Nurse radiation doses were collected by real-time dosimeters during consecutive coronary angiography procedures and are reported as the personal dose equivalent (Hp10). Patient radiation doses were estimated using dose area product (DAP). Patient BMI was categorized in kg/m2 as <25.0, 25.0-29.9, 30.0-34.9, 35.0-39.9, and ≥40. Multiple regression analysis determined procedural factors independently association with nurse radiation doses. RESULTS: In 643 consecutive coronary angiography procedures, patient radiation doses increased significantly across increasing patient BMI categories (p < 0.001). Compared to a patient BMI <25, a patient BMI ≥40 was associated with a 2.3-fold increase in DAP (p < 0.001). Significant differences were also observed in nurse radiation doses across patient BMI categories (p = 0.036). Compared to a patient BMI <25, a patient BMI ≥40 was associated with a 4.0-fold increase in nurse radiation dose (BMI < 25: 0.3 [0.1, 1.3] µSv; BMI ≥ 40: 1.2 [0.2, 2.9] µSv; p = 0.003). By multiple regression analysis, each 1-unit kg/m2 increase in patient BMI was associated with a 3.3% increase in nurse radiation dose (p = 0.002). CONCLUSIONS: Patient BMI was significantly associated with nurse radiation doses during coronary angiography. These observations may have important implications on nurse radiation safety, especially in the setting of the ongoing obesity epidemic.