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1.
J Emerg Med ; 66(2): 197-210, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38309979

ABSTRACT

BACKGROUND: Ocular emergencies comprise 2-3% of emergency department (ED) visits, with retinal detachment requiring emergency surgery. Two-dimensional ultrasound is a rapid bedside tool but is highly operator dependent. OBJECTIVE: We determined three-dimensional ultrasound (3DUS) feasibility, acceptability, and usability in eye pathology detection using the ophthalmologist examination as reference standard. METHODS: We performed a prospective, blinded cohort study of a 3DUS-enabling device in 30 eye clinic and ED patients with visual symptoms and calculated 3DUS performance characteristics. Two expert readers interpreted the 3DUS images for pathology. All participants completed surveys. RESULTS: 3DUS sensitivity was 0.81, specificity 0.73, positive predictive value 0.54, negative predictive value 0.91, and likelihood ratio (LR)+/LR- 3.03 and 0.26, respectively. Novice and expert sonographers had "substantial" agreement in correct diagnosis of abnormal vs. normal (κ = 0.68, 95% confidence interval 0.48-0.88). Most patients indicated that 3DUS is fast, comfortable, helps them understand their problem, and improves provider interaction/care, and all sonographers agreed; 4/5 sonographers felt confident performing ultrasound. Expert readers correctly identified an abnormal eye in 83/120 scans (76%) and correct diagnosis in 72/120 scans (65%), with no statistical difference between novice (79%; 69%) and expert (72%; 61%) sonographers (p = 0.39, p = 0.55), suggesting reduced operator dependence. Reader diagnosis confidence and image quality varied widely. Image acquisition times were fast for novice (mean 225 ± 83 s) and expert (201 ± 51) sonographers, with fast expert reader interpretation times (225 ± 136). CONCLUSIONS: A 3DUS-enabling device demonstrates a sensitivity of 0.81 and specificity of 0.73 for disease detection, fast image acquisition, and may reduce operator dependence for detecting emergent retinal pathologies. Further technological development is needed to improve diagnostic accuracy in identifying and characterizing retinal pathology.


Subject(s)
Emergency Service, Hospital , Humans , Cohort Studies , Prospective Studies , Feasibility Studies , Sensitivity and Specificity , Ultrasonography/methods
2.
West J Emerg Med ; 23(5): 706-715, 2022 Aug 19.
Article in English | MEDLINE | ID: mdl-36205675

ABSTRACT

INTRODUCTION: Previous studies suggest improved intubation success using video laryngoscopy (VL) vs direct laryngoscopy (DL), yet recent randomized trials have not shown clear benefit of one method over the other. These studies, however, have generally excluded difficult airways and rapid sequence intubation. In this study we looked to compare first-pass success (FPS) rates between VL and DL in adult emergency department (ED) patients with difficult airways. METHODS: We conducted a secondary analysis of prospectively collected observational data in the National Emergency Airway Registry (NEAR) (January 2016-December 2018). Variables included demographics, indications, methods, medications, devices, difficult airway characteristics, success, and adverse events. We included adult ED patients intubated with VL or DL who had difficult airways identified by gestalt or anatomic predictors. We stratified VL by hyperangulated (HAVL) vs standard geometry VL (SGVL). The primary outcome was FPS, and the secondary outcome was comparison of adverse event rates between groups. Data analyses included descriptive statistics with cluster-adjusted 95% confidence intervals (CI). RESULTS: Of 18,123 total intubations, 12,853 had a predicted or identified anatomically difficult airway. The FPS for difficult airways was 89.1% (95% CI 85.9-92.3) with VL and 77.7% (95% CI 75.7-79.7) with DL (P <0.00001). The FPS rates were similar between VL subtypes for all difficult airway characteristics except airways with blood or vomit, where SGVL FPS (87.3%; 95% CI 85.8-88.8) was slightly better than HAVL FPS (82.4%; 95% CI, 80.3-84.4). Adverse event rates were similar except for esophageal intubations and vomiting, which were both less common in VL than DL. Esophageal intubations occurred in 0.4% (95% CI 0.1-0.7) of VL attempts and 1.5% (95% CI 1.1-1.9) of DL attempts. Vomiting occurred in 0.6% (95% CI 0.5-0.7) of VL attempts and 1.4% (95% CI 0.9-1.9) of DL attempts. CONCLUSION: Analysis of the NEAR database demonstrates higher first-pass success with VL compared to DL in patients with predicted or anatomically difficult airways, and reduced rate of esophageal intubations and vomiting.


Subject(s)
Laryngoscopes , Laryngoscopy , Adult , Emergency Service, Hospital , Humans , Intubation, Intratracheal/methods , Laryngoscopy/methods , Registries , Video Recording , Vomiting
4.
G3 (Bethesda) ; 10(9): 3387-3398, 2020 09 02.
Article in English | MEDLINE | ID: mdl-32709620

ABSTRACT

The pigmentation mutation speck is a commonly used recombination marker characterized by a darkly pigmented region at the wing hinge. Identified in 1910 by Thomas Hunt Morgan, speck was characterized by Sturtevant as the most "workable" mutant in the rightmost region of the second chromosome and eventually localized to 2-107.0 and 60C1-2. Though the first speck mutation was isolated over 110 years ago, speck is still not associated with any gene. Here, as part of an undergraduate-led research effort, we show that speck is encoded by the Arylalkylamine N-acetyltransferase 1 (AANAT1) gene. Both alleles from the Morgan lab contain a retrotransposon in exon 1 of the RB transcript of the AANAT1 gene. We have also identified a new insertion allele and generated multiple deletion alleles in AANAT1 that all give a strong speck phenotype. In addition, expression of AANAT1 RNAi constructs either ubiquitously or in the dorsal portion of the developing wing generates a similar speck phenotype. We find that speck alleles have additional phenotypes, including ectopic pigmentation in the posterior pupal case, leg joints, cuticular sutures and overall body color. We propose that the acetylated dopamine generated by AANAT1 decreases the dopamine pool available for melanin production. When AANAT1 function is decreased, the excess dopamine enters the melanin pathway to generate the speck phenotype.


Subject(s)
Acetyltransferases , Drosophila melanogaster , Acetyltransferases/genetics , Alleles , Animals , Drosophila Proteins , Drosophila melanogaster/genetics , Mutation , Phenotype , Pupa , Wings, Animal
5.
Genetics ; 190(2): 549-57, 2012 Feb.
Article in English | MEDLINE | ID: mdl-22143918

ABSTRACT

Many essential aspects of genome function, including gene expression and chromosome segregation, are mediated throughout development and differentiation by changes in the chromatin state. Along with genomic signals encoded in the DNA, epigenetic processes regulate heritable gene expression patterns. Genomic signals such as enhancers, silencers, and repetitive DNA, while required for the establishment of alternative chromatin states, have an unclear role in epigenetic processes that underlie the persistence of chromatin states throughout development. Here, we demonstrate in fission yeast that the maintenance and inheritance of ectopic heterochromatin domains are independent of the genomic sequences necessary for their de novo establishment. We find that both structural heterochromatin and gene silencing can be stably maintained over an ~10-kb domain for up to hundreds of cell divisions in the absence of genomic sequences required for heterochromatin establishment, demonstrating the long-term persistence and stability of this chromatin state. The de novo heterochromatin, despite the absence of nucleation sequences, is also stably inherited through meiosis. Together, these studies provide evidence for chromatin-dependent, epigenetic control of gene silencing that is heritable, stable, and self-sustaining, even in the absence of the originating genomic signals.


Subject(s)
Epigenesis, Genetic , Genome, Fungal , Heterochromatin/metabolism , Schizosaccharomyces/genetics , Cell Division , Gene Expression Regulation, Fungal , Gene Order , Gene Silencing , Genetic Loci , Genomics , Meiosis , Models, Biological , Schizosaccharomyces/cytology , Schizosaccharomyces/metabolism , Transcription, Genetic
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