Evidence map›Paper›PMID 41072243›Full record

ArticleMolecular genetics and metabolism2025

Development of a radiographic vertebral severity score for evaluation of disease progression in alkaptonuria.

Francis Rossignol, Kristen S Pan, Monique B Perry, Joy C Bryant, Kevin J O'Brien, Irene J Castillo, Kathryn R Spears, Carlos R Ferreira, Mark D Murphey, Matthew J Minn and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

12 authors.

Francis RossignolHuman Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Kristen S PanMetabolic Bone Disorders Unit, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA; Department of Plastic and Reconstructive Surgery, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA.
Monique B PerryRehabilitation Medicine Department, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA.
Joy C BryantOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Kevin J O'BrienOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Irene J CastilloHuman Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Kathryn R SpearsHuman Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Carlos R FerreiraUnit on Skeletal Genomics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
Mark D MurpheyDepartment of Radiology, Walter Reed National Military Medical Center, Bethesda, MD 20814, USA; Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA; Musculoskeletal Imaging, ACR Institute for Radiologic Pathology, Silver Spring, MD 20910, USA.
Matthew J MinnDepartment of Radiology, Walter Reed National Military Medical Center, Bethesda, MD 20814, USA; Musculoskeletal Imaging, ACR Institute for Radiologic Pathology, Silver Spring, MD 20910, USA; Department of Radiology, Scripps Green Hospital, 10666 N. Torrey Pines Road, La Jolla, CA 92037, USA.
William A GahlHuman Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Wendy J IntroneHuman Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: wintrone@mail.nih.gov.

Funding

Human Biochemical GeneticsZIAHG000215 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2009 to 2025
$72.6M
Intramural NIH HHS Z99 HG999999Intramural NIH HHS ZIA HG000215
6 · The paper itself

Abstract

Alkaptonuria is associated with progressive spine disease beginning in young adulthood. Characteristic radiographic changes in the intervertebral discs are often the earliest detectable skeletal manifestations. We developed a radiographic severity score measuring spine disease at 13 levels (C2-C7, T10-S1) based upon three parameters: 1) narrowing; 2) calcification; 3) vacuum disc phenomenon. 409 sets of radiographs from 136 participants were scored and divided into: 1) a cross-sectional cohort, with the most recent visit of each individual; 2) a longitudinal cohort, for participants with multiple visits. Correlations with age, sex, clinical measurements and patient-reported outcomes were performed. Both cohorts showed correlation of spinal disease score with age. Correlations were found with pain (SF-36, Pain Disability Index) and physical function (Schober's test, SF-36, Human Activity Profile). Intra- and inter-rater reliability were high for the total score (ICC > 0.95, p < 0.001), with a minimal detectable change of 2.6 points out of a total possible score of 78. This radiographic severity score is highly reliable, correlates with age, sex, and several clinical measures of physical function and pain, and allows for the detection of clinically meaningful changes. It can also be used as an outcome measure to monitor disease progression and response to therapy.

Indexed as

AlkaptonuriaSpinal DiseasesSpineAdultAgedCross-Sectional StudiesDisease ProgressionFemaleHumansLongitudinal StudiesMaleMiddle AgedRadiographySeverity of Illness IndexYoung AdultAlkaptonuriaDisease progressionOutcome measureRadiographic severity scoreSpondyloarthropathy

Identifiers

PMID41072243
PMCPMC12806152

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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.