A retrospective analysis of the use of electronic consultation in general internal medicine.

BACKGROUND: General internists in Canada are subspecialty providers in the inpatient and outpatient settings. Electronic consultations (eConsult) allow primary care providers (PCPs) to virtually consult specialists to address clinical questions. There is a paucity of literature examining the utility and benefits of eConsults by general internists. AIMS: To determine how an eConsult service is used to access general internists. METHODS: A retrospective cross-sectional analysis of internal medicine cases was completed between 1 January 2016 and 31 December 2019 via the ChamplainBASE eConsult service. Two authors derived and validated a general internal medicine (GIM)-specific taxonomy using the validated: (i) Taxonomy of Generic Clinical Questions; and (ii) Internal Classification for Primary Care. Two hundred seventy-six cases were coded following taxonomy validation. ChamplainBASE utilisation summary and closeout survey data were also analysed. RESULTS: eConsults were responded to in a median of 3.1 days and took 15 min to complete. The eConsult's helpfulness and educational value were rated as 4 to 5/5 and often provided advice for a new or additional course of action. In-person referral was avoided in 40% of cases. The majority of eConsults consisted of a single question (88%) related to diagnostic clarification. The median remuneration per eConsult was $50. CONCLUSIONS: The majority of eConsults to general internists sought diagnostic clarification and confirmed the view of general internists as expert diagnosticians. eConsults cost less than an in-person consultation and were viewed favourably by PCPs. Further research can consider the eConsult provider experience and whether eConsults should become a required part of GIM ambulatory practice.

Chloride and Other Electrolyte Concentrations in Commonly Available 5% Albumin Products.

OBJECTIVE: Use of hyperchloremic IV fluids for resuscitation in sepsis may be associated with increased mortality and use of renal replacement therapy. After crystalloids, 5% human albumin represents the second most common resuscitation fluid in the ICU. Its chloride concentration is rarely considered in the clinical setting. This study quantifies previously undocumented chloride concentrations of three 5% albumin solutions using biochemical analysis. DESIGN: We performed blinded analysis of the electrolyte concentration of albumin samples obtained directly from the national blood supplier (Canadian Blood Services). Two-tailed independent t tests were performed for all possible comparative analyses. Analysis of variance testing was performed for relevant three-way comparisons. Significance threshold was set at p less than 0.05. SETTING: All samples were analyzed in the core laboratory at an academic hospital associated with McMaster University in Hamilton, Ontario, Canada. SUBJECTS: We analyzed 65 albumin samples from three available brands obtained through Canadian Blood Services. They include Plasbumin (n = 21), Alburex (n = 24), Octalbin (n = 20). INTERVENTION: Laboratory technologists blinded to product identification measured the concentration of electrolytes, extended electrolytes, lactate, and albumin of each sample using the Abbott ARCHITECT c8000 chemistry analyzer. MEASUREMENTS AND MAIN RESULTS: The mean chloride concentration of Plasbumin, Alburex, and Octalbin, respectively, were 109.4 mmol/L (SD, 1.3), 123.6 mmol/L (SD, 1.3), and 136.8 mmol/L (SD, 0.4). The mean sodium concentration of Plasbumin, Alburex, and Octalbin, respectively, were 139.6 mmol/L (SD, 1.6), 137.3 mmol/L (SD, 2.2), and 149.4 mmol/L (SD, 0.5). The chloride and sodium concentration differed significantly for all two-way comparisons (p < 0.0001) and multiple comparison testing (p < 0.0001). CONCLUSION: This study is the first to identify and document a statistically significant variability in the chloride concentration of available 5% albumin products. This study has also informed a pilot randomized controlled trial examining the effect of administering high chloride versus low chloride fluids in critically ill patients with sepsis.

Re-sequencing of ankyrin 3 exon 48 and case-control association analysis of rare variants in bipolar disorder type I.

OBJECTIVES: Genome-wide association studies (GWAS) recently identified ankyrin 3 (ANK3) as a candidate gene for bipolar disorder type I (BPD-I). Because the GWAS suggested multiple common haplotypes associated with BPD-I (with odds ratio ~1.3), we hypothesized that rare variants within these common haplotypes might increase risk for BPD-I. METHODS: We undertook a project in which the serine-rich domain-tail domain (SRD-TD)-encoding exon of ANK3 was amplified from genomic DNA (gDNA) of 384 BPD-I patients and re-sequenced by next generation sequencing (NGS; SOLiD™). RESULTS: We confirmed 18 novel mis-sense rare variants and one novel insertion/deletion variant within the SRD-TD exon, many of which change amino acid residues with extremely high evolutionary conservation. We genotyped most of these mis-sense variants in ≥ 1000 BPD-I and ≥ 1000 control individuals. We found no statistically significant association of any of the rare variants detected with BPD-I. CONCLUSIONS: Thus, we conclude that rare variants within the re-sequenced structural domains of ANK3 exon 48 do not contribute to BPD-I.

Identification of CHRNA5 rare variants in African-American heavy smokers.

BACKGROUND: The common CHRNA5 mis-sense coding single-nucleotide polymorphism (SNP) rs16969968:G>A (D398N) has repeatedly been shown to confer risk for heavy smoking in individuals who carry the 'A' allele (encoding the 398N amino acid). The mis-sense SNP has a minor allele frequency of ∼40% in European-Americans, but only ∼7% in African-Americans (http://www.ncbi.nlm.nih.gov/projects/SNP/). We reasoned that there might be other mis-sense variants among African-Americans that could confer the heavy smoking phenotype (defined here as ≥20 cigarettes per day), perhaps in a manner similar to that of the D398N polymorphism in Europeans. MATERIALS AND METHODS: As such, we resequenced 250 African-American heavy smokers, most of whom were homozygous 'G' at rs16969968:G>A (minor allele frequency of 9.6% within the population). RESULTS: Although many novel coding SNPs were not observed, we report an interesting, although rare (perhaps personal), variant in CHRNA5 that could result in nonsense-mediated decay of the aberrant transcript. CONCLUSION: We conclude that, in African-Americans, variants (common or rare) in genes other than CHRNA5 most likely contribute toward the nicotine-dependent phenotype, either independently or in combination with variants in CHRNA5. The functional significance, on CHRNA5 expression or protein function, of the variants found here should be determined in future studies.