Evidence map›Paper›PMID 31761504›Full record

ArticleThe Journal of hand surgery2020

Evaluation for Kienböck Disease Familial Clustering: A Population-Based Cohort Study.

Nikolas H Kazmers, Zhe Yu, Tyler Barker, Tyler Abraham, Robin Romero, Michael J Jurynec

Open access · greenAbstract read
In one paragraph

Article in The Journal of hand surgery, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
1.8field-weighted citation impact, top 15% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

10 citing papers in PubMed, 19 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 3 institutions in 1 country.

Nikolas H KazmersDepartment of Orthopaedics, University of Utah, Salt Lake City, UT. Electronic address: nkazmers@gmail.com.
Zhe YuUtah Population Database Resource, Huntsman Cancer Institute, Salt Lake City, UT.
Tyler BarkerIntermountain Healthcare, Precision Genomics, Murray, UT; Department of Nutrition and Integrative Physiology, University of Utah, Salt Lake City, UT.
Tyler AbrahamIntermountain Healthcare, Precision Genomics, St George, UT.
Robin RomeroIntermountain Healthcare, Precision Genomics, St George, UT.
Michael J JurynecDepartment of Orthopaedics, University of Utah, Salt Lake City, UT; George and Dolores Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT.
Intermountain Healthcare · USUniversity of Utah · USHuntsman Cancer Institute · US

Funding

University of Utah Center for Clinical and Translational Science-UL1UL1TR000105 · NCATS · UNIVERSITY OF UTAH · PI MCCLAIN, DONALD A. · 2012 to 2013
$5.1M
NCATS NIH HHS UL1 TR000105
6 · The paper itself

Abstract

purposeKienböck disease (KD) is rare and its etiology remains unknown. As a result, the ideal treatment is also in question. Our primary purpose was to test the hypothesis that KD would demonstrate familial clustering in a large statewide population with comprehensive genealogical records, possibly suggesting a genetic etiologic contribution. Our secondary purpose was to evaluate for associations between KD and known risk factors for avascular necrosis.

methodsPatients diagnosed with KD were identified by searching medical records from a comprehensive statewide database, the Utah Population Database. This database contains pedigrees dating back to the early 1800s, which are linked to 31 million medical records for 11 million patients from 1996 to the present. Affected individuals were then mapped to pedigrees to identify high-risk families with an increased incidence of KD relative to control pedigrees. The magnitude of familial risk of KD in related individuals was calculated using Cox regression models. Association of risk factors related to KD was analyzed using conditional logistic regression.

resultsWe identified 394 affected individuals linked to 194 unrelated high-risk pedigrees with increased incidence of KD. The relative risk of developing KD was significantly elevated in first-degree relatives. There was a significant correlation between alcohol, glucocorticoid, and tobacco use and a history of diabetes, and the diagnosis of KD.

conclusionsFamilial clustering of KD observed in the Utah Population Database cohort indicates a potential genetic contribution to the etiology of the disease. Identification of causal gene variants in these high-risk families may provide insight into the genes and pathways that contribute to the onset and progression of KD. CLINICAL RELEVANCE: This study suggests that there is a potential genetic contribution to the etiology of KD and that the disease has a significant association with several risk factors.

Indexed as

Genetic Predisposition to DiseaseOsteonecrosisCluster AnalysisCohort StudiesHumansRisk FactorsUtahAseptic necrosisfamilial standardized incidence ratiogeneticsKienböck diseaselunate osteonecrosis

Identifiers

PMID31761504
PMCPMC6943177
OpenAlexW2991511369

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.