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Record W2415933229 · doi:10.3899/jrheum.151193

Phenotypic Variability in Majeed Syndrome

2016· letter· en· W2415933229 on OpenAlex

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

venuePublished in a venue whose home country is Canada.
no affNo Canadian affiliation: this work is invisible to an affiliation-only frame.
No Canadian affiliation. An affiliation-only frame, the usual design, would never have seen this work. It is one of the works that make the case for inverting the frame.

Bibliographic record

VenueThe Journal of Rheumatology · 2016
Typeletter
Languageen
FieldMedicine
TopicOsteomyelitis and Bone Disorders Research
Canadian institutionsnot available
FundersNational Institute of Arthritis and Musculoskeletal and Skin Diseases
KeywordsMedicineProbandMicrocytic anemiaPediatricsCousinDiseaseAnemiaInternal medicineMutationGeneticsLaw

Abstract

fetched live from OpenAlex

To the Editor: Majeed syndrome (OMIM #609628) is a syndromic form of chronic recurrent multifocal osteomyelitis (CRMO) that presents with early onset, severe CRMO, and a microcytic dyserythropoietic anemia of variable severity. Onset in all reported cases has been in the first 2 years of life1,2,3. A minority of patients develop a neutrophilic dermatosis. The disease is due to mutations in LPIN2 , which encodes LIPIN2, a phosphatidate phosphatase important in lipid metabolism2,3,4,5,6. Here we present the case histories of 2 male cousins of Indian heritage with Majeed syndrome. Both born to parents with consanguineous marriages, the proband presented with typical Majeed syndrome (onset of CRMO by 2 yrs of age, significant microcytic dyserythropoietic anemia, and failure to thrive), but the cousin had later onset, milder disease more reminiscent of nonsyndromic CRMO (onset at 8 yrs of age and minimal anemia). Both were found to be homozygous for the same novel LPIN2 mutation. Our report details the natural history of the disease in these 2 boys, expands the at-risk ethnic and racial group of Majeed syndrome, and demonstrates that the disease can present … Address correspondence to Dr. P.J. Ferguson, Department of Pediatrics, University of Iowa Carver College of Medicine, 200 Hawkins Drive, Iowa City, Iowa 52242, USA. E-mail: polly-ferguson{at}uiowa.edu

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.

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)0.003
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesResearch integrity, Insufficient payload (model declined to judge)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: Not applicable
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.603
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0030.001
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 integrity0.0010.003
Insufficient payload (model declined to judge)0.0010.000

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 head0.279
Teacher spread0.262 · 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