Beyond the Exam Room: Teaching Intervisit Care to Internal Medicine Residents.

Introduction: Intervisit care, asynchronous care provided between patient visits, represents an essential part of patient care. Despite the importance of intervisit care, residency programs have not traditionally taught residents how to effectively manage intervisit care within the formal curriculum. We aimed to improve resident preparedness in providing intervisit care with an intervisit workshop.

Impact of Diabetes and Glycemia on Cardiac Improvement and Adverse Events Following Mechanical Circulatory Support.

Background: Type 2 diabetes is prevalent in cardiovascular disease and contributes to excess morbidity and mortality. We sought to investigate the effect of glycemia on functional cardiac improvement, morbidity, and mortality in durable left ventricular assist device (LVAD) recipients.

Methods And Results: Consecutive patients with an LVAD were prospectively evaluated (n=531).

Accuracy of Ultrasound Jugular Venous Pressure Height in Predicting Central Venous Congestion.

Background: Assessment of volume status through the estimation of central venous pressure (CVP) is integral in the care of heart failure (HF). Bedside assessment is limited by obesity, variation in physical examination skills, and expertise in ultrasonography.

Objective: To validate the accuracy of quantitative and qualitative point-of-care ultrasonography assessment of jugular venous pressure (JVP) in predicting elevated CVP.

Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.

BACKGROUNDTranscriptome sequencing (RNA-seq) improves diagnostic rates in individuals with suspected Mendelian conditions to varying degrees, primarily by directing the prioritization of candidate DNA variants identified on exome or genome sequencing (ES/GS). Here we implemented an RNA-seq-guided method to diagnose individuals across a wide range of ages and clinical phenotypes.METHODSOne hundred fifteen undiagnosed adult and pediatric patients with diverse phenotypes and 67 family members (182 total individuals) underwent RNA-seq from whole blood and skin fibroblasts at the Baylor College of Medicine (BCM) Undiagnosed Diseases Network clinical site from 2014 to 2020.

β-MSCs: successful fusion of MSCs with β-cells results in a β-cell like phenotype.

Bone marrow mesenchymal stromal cells (MSC) have anti-inflammatory, anti-apoptotic and immunosuppressive properties and are a potent source for cell therapy. Cell fusion has been proposed for rapid generation of functional new reprogrammed cells. In this study, we aimed to establish a fusion protocol of bone marrow-derived human MSCs with the rat beta-cell line (INS-1E) as well as human isolated pancreatic islets in order to generate insulin producing beta-MSCs as a cell-based treatment for diabetes.

Population-based risks for cancer in patients with ALS.

Objective: To estimate the risks for cancer (overall and site-specific) in an amyotrophic lateral sclerosis (ALS) cohort.

Methods: In this observational longitudinal study, ALS and cancer cases were identified in a computerized Utah genealogy database (Utah Population Database) linked to a statewide cancer registry and death certificates. Hazard ratios (HRs) were estimated as the ratio of observed to expected number of cancers.

Familial aggregation of Parkinson disease in Utah: A population-based analysis using death certificates.

Objective: To describe clustering of death from Parkinson disease (PD) in relatives in a large US study.

Methods: We analyzed the Utah Population Database resource, which includes genealogy data of more than 2.7 million individuals linked to 519,061 individuals with a Utah death certificate (DC).

Risk of associated conditions in relatives of subjects with interstitial cystitis.

Objectives: Urological chronic pelvic pain syndrome includes interstitial cystitis/painful bladder syndrome (IC/PBS), a chronic bladder pain condition of unknown etiology. Interstitial cystitis/painful bladder syndrome can co-occur with a number of associated conditions such as irritable bowel syndrome and fibromyalgia. The purpose of this study was to estimate the heritability of approximately 20 associated conditions in first-degree relatives (and if appropriate, second- and third-degree relatives) of patients with IC/PBS to identify shared genetic contributions for the disease combinations.

Fine-mapping the HOXB region detects common variants tagging a rare coding allele: evidence for synthetic association in prostate cancer.

The HOXB13 gene has been implicated in prostate cancer (PrCa) susceptibility. We performed a high resolution fine-mapping analysis to comprehensively evaluate the association between common genetic variation across the HOXB genetic locus at 17q21 and PrCa risk. This involved genotyping 700 SNPs using a custom Illumina iSelect array (iCOGS) followed by imputation of 3195 SNPs in 20,440 PrCa cases and 21,469 controls in The PRACTICAL consortium.

Familial clustering of ALS in a population-based resource.

Objective: To determine the extent of an inherited contribution to amyotrophic lateral sclerosis (ALS) mortality.

Methods: Death certificates (DCs) from 1904 to 2009 were analyzed from patients with at least 3 generations recorded in the Utah Population Database, a genealogic and medical database of more than 2 million Utah residents. Among probands whose DCs listed ALS, the relative risk (RR) of death with ALS was determined among spouses and first- through fifth-degree relatives, using birth year-, sex-, and birthplace-matched cohorts.

RUNX1 and NF-E2 upregulation is not specific for MPNs, but is seen in polycythemic disorders with augmented HIF signaling.

Overexpression of transcription factors runt-related transcription factor 1 (RUNX1) and nuclear factor, erythroid-derived 2 (NF-E2) was reported in granulocytes of patients with polycythemia vera and other myeloproliferative neoplasms (MPNs). Further, a transgenic mouse overexpressing the NF-E2 transgene was reported to be a model of MPN. We hypothesized that increased transcripts of RUNX1 and NF-E2 might characterize other polycythemic states with primary polycythemic features, that is, those with exaggerated erythropoiesis due to augmented erythropoietin (EPO) sensitivity.