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. METHODS: We retrospectively calculated the difference between the highest and lowest systolic blood pressure during the first 24 h of admission in patients with spontaneous ICH over 30 months. Creatinine (Cr) levels at admission were compared to the highest Cr level during the first 7 days after admission. AKI was defined as any > 50% increase of baseline Cr during the first 7 days. Logistic regression models were used to assess the association between race-ethnicity and CTA and AKI. We also analyzed the incidence of AKI stratified by race-ethnicity. RESULTS: A total of 394 patients were included (mean age ± SD 63 ± 14 years), 160 patients (41%) were women, 162 (41%) Hispanic, 39 (10%) White and 189 (48%) Black. Most of the patients underwent CTA (73%). The prevalence of AKI was (18%), but no difference was found in AKI incidence (19% in Blacks vs. 17% in Whites vs. 18% in Hispanics (p = 0.940). In fully adjusted models, AKI was not associated with race-ethnicity (p = 0.665) or CTA (p = 0.187). The stratified analysis by race-ethnicity did not change our findings. CONCLUSION: We found no association between race-ethnicity or CTA and AKI during the acute management of ICH in a real-life stroke population. Our findings suggest that CTA can be safely obtained in acute ICH, even in populations of diverse race-ethnicity who may be more prone to adverse kidney events. CTA did not contribute to developing AKI.

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. Although some of these patients' features are consistent with the known SPTAN1 encephalopathy phenotype, these two children do not have epilepsy, in contrast to reports about nearly every other patient with heterozygous SPTAN1 variants and in all patients with a variant near the C-terminal coding region. Moreover, both children have abnormal thyroid function, which has not been previously reported in association with SPTAN1 variant. We present a detailed discussion of the clinical manifestations of these two unique SPTAN1 variants and provide evidence that both variants result in reduced mRNA expression despite different locations within the gene and clinical phenotypes. These findings expand the motor, cognitive, and behavioral spectrum of the SPTAN1-associated phenotype and invite speculation about underlying pathophysiologies.

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. RESULTS: Population average nAMPs were strikingly consistent between separate institutions, but differed substantially between H3N2 and H1N1 seasons. In the 2012-2013 and 2014-2015 influenza seasons, matrix gene H3N2 nAMP averages were 50-70% less than those of the same assay in the 2013-2014 H1N1 season. Influenza strains representative of these seasons were grown in tissue culture and when the supernatant virus was adjusted to the same copy number using a TaqMan assay, the same relative differences were reproduced in the RVP assay. Because the sequences for the PCR and PCR product detection in the GenMark assay are proprietary, the manufacturer provided single stranded DNA matching the capture probe for the representative H3N2 (3 mismatches) and H1N1 strains (2 different mismatches). Equimolar concentrations of these synthetic DNA sequences gave average nAMP values that closely correlated with the average nAMPS of the representative strains and their respective seasonal averages. CONCLUSIONS: Seasonal averages of semi-quantitative data may provide a means to follow assay performance as a reflection of the effects of molecular drift.