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Record W4308142700 · doi:10.1210/jendso/bvac150.1290

PMON306 A Multisite Study Evaluating Frequency and Characteristics of Non-Ossifying Fibromas in Children with Congenital Forms of Rickets.

2022· article· en· W4308142700 on OpenAlexaboutno aff
Anna Ryabets‐Lienhard, Chelsey Grimbly, Leanne M. Ward, Katherine Antoniak, Oussama Abousamra

Bibliographic record

VenueJournal of the Endocrine Society · 2022
Typearticle
Languageen
FieldMedicine
TopicSoft tissue tumor case studies
Canadian institutionsnot available
Fundersnot available
KeywordsRicketsMedicineHypophosphatemiaPediatricsVitamin D and neurologyvitamin D deficiencyEtiologyAsymptomaticPopulationSurgeryInternal medicine

Abstract

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Abstract Purpose Non-ossifying fibromas (NOF) are benign, fibrous lesions of the skeleton estimated to occur in about 30% of children and adolescents. In the general pediatric population, they are twice as common in males, usually asymptomatic and self-limiting. Etiology is largely unknown, though multiple NOF are described with genetic syndromes such as neurofibromatosis 1. We have observed NOF in children with various forms of rickets. However, there is limited information on the frequency and characteristics of NOF in rickets. The purpose of this study was to evaluate the frequency of NOF in various congenital forms of rickets under care in tertiary care centers and describe their characteristics. Methods This was a retrospective chart review of patients with congenital forms of rickets and at least one bilateral lower extremity radiograph taken between 4 and 18 years of age at two academic children's hospitals in the United States and Canada between 2004 to 2020. Rickets diagnosis was confirmed by clinical, biochemical, radiographic, and genetic testing where available. Data are described as proportions and percentages for categorical variables and means with standard deviations for continuous variables. Results Sixty-four patients, mean age 13.3 ± 5.1 years old (66%F, 46% Hispanic) were included with the following diagnoses: X-linked Hypophosphatemia (XLH, n=55, 86%), renal hypophosphatemia [n=4, 6% (3 Fanconi syndrome, 1 Dent disease)], hereditary vitamin D resistant rickets (HVDRR, n=3, 5%), and hereditary vitamin D dependent rickets type 1 (VDDR1, n=2, 3%). Fifteen patients (23%, 67%F) had at least one NOF, of whom 13 (87%) had XLH, one (7%) had HVDRR, and one (7%) had VDDR1. All NOF were localized to the lower extremities (60% femur, 27% tibia, and 13% fibula); there were no NOF in the upper extremities or at other sites among those with relevant skeletal imaging (n=32 with upper extremity and/or full skeletal survey data). The mean NOF height was 24.1 ± 13.8 mm and width 10.1 ± 5.3 mm. Nine of 15 patients with NOF (60%) compared with 21/49 without NOF (43%) required angular deformity surgery. Three patients (20%) experienced fractures within the lesions, two (13%) had two lesions each, and one (7%) had a progressive lesion requiring surgery with grafting. Conclusion We describe the frequency of NOF in children with congenital forms of rickets followed in academic centers. NOF were identified in almost a quarter of patients, and patients with NOF required angular surgery more often. Fractures were present within the lesions in one fifth of those with NOF, suggesting clinically important osteomalacia at that site. Interestingly, in contrast to the general pediatric population, we found no male preponderance. Long-term follow up and future studies are important to further characterize NOF in various forms of rickets, their pathogenesis, progression, and association with the disease severity. Presentation: Monday, June 13, 2022 12:30 p.m. - 2:30 p.m.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.007
Threshold uncertainty score0.357

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.017
GPT teacher head0.304
Teacher spread0.287 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

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Citations2
Published2022
Admission routes1
Has abstractyes

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