Natural Language Processing to Identify Infants Aged 90 Days and Younger With Fevers Prior to Presentation.

Objective: Natural language processing (NLP) can enhance research studies for febrile infants by more comprehensive cohort identification. We aimed to refine and validate an NLP algorithm to identify and extract quantified temperature measurements from infants aged 90 days and younger with fevers at home or clinics prior to emergency department (ED) visits.

Patients And Methods: We conducted a cross-sectional study using electronic health record (EHR) data from 17 EDs in 10 health systems that are part of the Pediatric Emergency Care Applied Research Network Registry.

Association of Social Determinants of Health With Brain MRI Outcomes in Individuals With Pediatric Onset Multiple Sclerosis.

Background And Objectives: Accumulating evidence points to worse clinical outcomes among adults with multiple sclerosis (MS) belonging to minority or poverty-affected groups. By contrast, little is known about the outcomes of these populations with pediatric-onset MS (POMS). Individuals with POMS represent 5% of the MS population and are more racially diverse yet have been understudied regarding socioeconomic environment or characteristics.

Instrumental variables in the cost of illness featuring type 2 diabetes.

Objective: To ascertain how an instrumental variables (IV) model can improve upon the estimates obtained from traditional cost-of-illness (COI) models that treat health conditions as predetermined.

Study Setting And Design: A simulation study based on observational data compares the coefficients and average marginal effects from an IV model to a traditional COI model when an unobservable confounder is introduced. The two approaches are then applied to real data, using a kinship-weighted family history as an instrument, and differences are interpreted within the context of the findings from the simulation study.

Endometriosis Typology and Ovarian Cancer Risk.

Importance: Endometriosis has been associated with an increased risk of ovarian cancer; however, the associations between endometriosis subtypes and ovarian cancer histotypes have not been well-described.

Objective: To evaluate the associations of endometriosis subtypes with incidence of ovarian cancer, both overall and by histotype.

Design, Setting, And Participants: Population-based cohort study using data from the Utah Population Database.

Social inequities in neighborhood health amenities over time in the Wasatch Front Region of Utah: Historical inequities, population selection, or differential investment?

Socially disadvantaged groups generally are more likely to reside in areas with less desirable conditions. We examined longitudinal relationships between neighborhood resident characteristics and amenities from 1990 to 2010 in an urban area of Utah, U.S.

Analysis of acute extremity compartment syndrome using a genealogic population database.

Introduction: Acute extremity compartment syndrome ("CS") is an under-researched, highly morbid condition affecting trauma populations. The purpose of this study was to analyze incidence rates and risk factors for extremity compartment syndrome using a high-quality population database. Additionally, we evaluated heritable risk for CS using available genealogic data.

Familial Analysis of Nonunion in a Genealogic Population Database Demonstrates No Evidence of Heritable Risk.

Objective: To determine whether there is evidence of heritable risk for nonunion using a large, state-wide population database.

Design: Database.

Setting: Level 1 Trauma Center.

Familial Clustering and Genetic Analysis of Severe Thumb Carpometacarpal Joint Osteoarthritis in a Large Statewide Cohort.

Purpose: Our goals were to identify individuals who required surgery for thumb carpometacarpal (CMC) joint osteoarthritis (OA), determine if CMC joint OA clusters in families, define the magnitude of familial risk of CMC joint OA, identify risk factors associated with CMC joint OA, and identify rare genetic variants that segregate with familial CMC joint OA.

Methods: We searched the Utah Population Database to identify a cohort of CMC joint OA patients who required surgery. Affected individuals were mapped to pedigrees to identify high-risk families with excess clustering of CMC joint OA.

Familial Clustering of Erosive Hand Osteoarthritis in a Large Statewide Cohort.

Objective: Erosive hand osteoarthritis (OA) is a severe and rapidly progressing subset of hand OA. Its etiology remains largely unknown, which has hindered development of successful treatments. This study was undertaken to test the hypothesis that erosive hand OA demonstrates familial clustering in a large statewide population linked to genealogical records, and to determine the association of potential risk factors with erosive hand OA.

Germline mutation rates in young adults predict longevity and reproductive lifespan.

Ageing may be due to mutation accumulation across the lifespan, leading to tissue dysfunction, disease, and death. We tested whether germline autosomal mutation rates in young adults predict their remaining survival, and, for women, their reproductive lifespans. Age-adjusted mutation rates (AAMRs) in 61 women and 61 men from the Utah CEPH (Centre d'Etude du Polymorphisme Humain) families were determined.

Socioeconomic Status May Not Be a Risk Factor for Periprosthetic Joint Infection.

Background: Periprosthetic joint infection (PJI) is a devastating complication after total joint arthroplasty, carrying significant economic and personal burden. The goal of this study is to use an established database to analyze socioeconomic variables and assess their relationship to PJI. Additionally, we sought to evaluate whether socioeconomic factors, along with other known risk factors of PJI, when controlled for in a statistical model affected the familial risk of PJI.

Patients with Type-1 Diabetes Are at Greater Risk of Periprosthetic Joint Infection: A Population-Based, Retrospective, Cohort Study.

Background: The effect of diabetes type on the risk of periprosthetic joint infection is not well documented. We hypothesized that patients with diabetes mellitus type 1 would be at greater risk for periprosthetic joint infection than those with diabetes mellitus type 2 and that a history of diabetic complications would be associated with an increased risk of periprosthetic joint infection.

Methods: We performed a retrospective cohort study, within a statewide database, on all adult patients who underwent hip or knee arthroplasty, with follow-up of ≥2 years, from 1996 to 2013.

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.

Although the spliceogenic nature of the BRCA2 c.68-7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real-time PCR and digital PCR (dPCR), the BRCA2 isoforms retaining or missing exon 3.

The c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.

Background: We previously showed that the variant c.5096G>A p.Arg1699Gln (R1699Q) was associated with an intermediate risk of breast cancer (BC) and ovarian cancer (OC).

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.

A recent analysis using family history weighting and co-observation classification modeling indicated that BRCA1 c.594-2A > C (IVS9-2A > C), previously described to cause exon 10 skipping (a truncating alteration), displays characteristics inconsistent with those of a high risk pathogenic BRCA1 variant. We used large-scale genetic and clinical resources from the ENIGMA, CIMBA and BCAC consortia to assess pathogenicity of c.

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers.

Background: The K3326X variant in BRCA2 (BRCA2*c.9976A>T; p.Lys3326*; rs11571833) has been found to be associated with small increased risks of breast cancer.