Longitudinal Outcomes in Pi*MZ Alpha-1 Antitrypsin Deficient Individuals with Tobacco Smoking History from the SPIROMICS Cohort.

Background: Reliable data about the natural history of lung function decline in alpha-1 antitrypsin (AAT) deficient Pi*MZ heterozygotes is largely missing. We hypothesized that, in adults with a tobacco smoking history, lung function deteriorates faster in Pi*MZ compared to Pi*MM genotype.

Methods: We identified 1856 Pi*MM and 79 Pi*MZ participants with ≥20 pack-years tobacco smoking history from the SPIROMICS cohort by DNA sequencing and followed them over a median of 4.

Performance assessment of disposable carbon-based immunosensors for the detection of SARS-CoV-2 infections.

We designed, developed, and clinically tested two rapid antigen-based immunosensors for SARS-CoV-2 detection, enabling diagnosis and viral load quantification for under USD $2. In a first clinical study, a screen-printed disposable carbon-based (SPC) sensor was assessed on prospectively recruited adult participants classified into three study groups: healthy donors (n = 46); SARS-CoV-2-infected symptomatic patients (n = 58); and co-habitants of patients without prior testing (n = 38). Nasopharyngeal aspirates (NA), oropharyngeal swabs (OS), and saliva (SA) samples were obtained from all participants.

Seymour fracture management and functional outcome assessment: a case report.

Seymour fracture, a rare entity whose management is complex due to the mechanism and rate of complications. We present a case to describe our management approach. A 14-year-old child with a laceration secondary to a boot crush of 1 day of evolution.

Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed.

Most genetic variants associated with complex traits and diseases occur in non-coding genomic regions and are hypothesized to regulate gene expression. To understand the genetics underlying gene expression variability, we characterize 14,324 ancestrally diverse RNA-sequencing samples from the NHLBI Trans-Omics for Precision Medicine (TOPMed) program and integrate whole genome sequencing data to perform and expression and splicing quantitative trait locus (-/trans-e/sQTL) analyses in six tissues and cell types, most notably whole blood (N=6,454) and lung (N=1,291). We show this dataset enables greater detection of secondary cis-e/sQTL signals than was achieved in previous studies, and that secondary cis-eQTL and primary trans-eQTL signal discovery is not saturated even though eGene discovery is.

Whole genome uniparental isodisomy detected using single nucleotide polymorphism (SNP) microarray in molar pregnancy: a case report.

Background: Gestational trophoblastic neoplasms consist of complete and partial hydatidiform moles, both of which are considered aberrant conceptuses. Both conditions, complete hydatidiform mole (CHM) and partial hydatidiform mole (PHM), differ in histological characteristics, genetic origin and content and clinical features. CHM have a diploid karyotype, mostly 46,XX but lack maternal genetic contribution with all chromosomes of paternal origin.