Effect of Race-Ethnicity and CT Angiography on Renal Injury During Blood Pressure Treatment for Intracerebral Hemorrhage.

Background: Lowering blood pressure intensively in acute intracerebral hemorrhage (ICH) is associated with adverse renal events; Blacks and Hispanics have a higher incidence of ICH and kidney disease than Whites. In addition, CT angiography (CTA), which may also be associated with acute kidney injury (AKI), is often done in acute ICH. Our objective was to investigate the relationship between aggressive BP management, CTA, race-ethnicity and the risk of developing AKI in patients presenting with ICH.

Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.

We describe two unrelated children with de novo variants in the non-erythrocytic alpha-II-spectrin (SPTAN1) gene who have hypoplastic brain structures, intellectual disability, and both fine and gross motor impairments. Using agnostic exome sequencing, we identified a nonsense variant creating a premature stop codon in exon 21 of SPTAN1, and in a second patient we identified an intronic substitution in SPTAN1 prior to exon 50 creating a new donor acceptor site. Neither of these variants has been described previously.

Semi-quantitative Influenza A population averages from a multiplex respiratory viral panel (RVP): potential for reflecting target sequence changes affecting the assay.

Background: Yearly influenza virus mutations potentially affect the performance of molecular assays, if nucleic acid changes involve the sequences in the assay. Because individual patient viral loads depend on variables such as duration of illness, specimen type, age, and immunosuppression, we examined seasonal population averages of positive tests to smooth inherent variability.

Methods: We studied the population seasonal averages of the semi-quantitative nAMPs for the influenza matrix and hemagglutinin genes in the GenMark (Carlsbad, CA) Respiratory Viral Panel assay between 3 institutions over 3 Influenza seasons.