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Record W2159165288 · doi:10.1517/17530059.2.7.763

Diagnosis of autosomal dominant polycystic kidney disease

2008· article· en· W2159165288 on OpenAlexaff
York Pei, Xiao Zhao

Bibliographic record

VenueExpert Opinion on Medical Diagnostics · 2008
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic and Kidney Cyst Diseases
Canadian institutionsUniversity of TorontoWestern UniversityUniversity Health Network
Fundersnot available
KeywordsAutosomal dominant polycystic kidney diseasePKD1MedicineDiseasePolycystic kidney diseaseDifferential diagnosisCystic kidney diseasePathologyRadiologyBioinformaticsIntensive care medicineInternal medicineBiology

Abstract

fetched live from OpenAlex

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease and accounts for 5 - 10% of end stage renal disease. Mutations of two genes, PKD1 and PKD2, account for ∼ 85 and ∼ 15% of cases, respectively. OBJECTIVE: This paper reviews the clinical features of ADPKD, highlights the current roles for image- and molecular-based diagnostics, and the potential for new innovations to improve the clinical diagnostics for ADPKD. METHODS: This paper reviews the literature on the clinical features, differential diagnosis, and image- and molecular-based diagnostics for ADPKD. RESULTS/CONCLUSION: At present, presymptomatic diagnosis of ADPKD in subjects born with 50% risk is typically performed by renal ultrasonography. Renal MRI, with improved sensitivity for detecting smaller cysts, is a promising modality. There is also a clear role for molecular diagnostics, especially in patients with equivocal imaging results, in those with a negative family history and in younger at-risk subjects with a negative ultrasound study being evaluated as a living-related kidney donor. Also, several classes of promising disease-modifying drugs are being tested in clinical trials and, if proved effective, some of them will be used in early disease. Therefore, it is likely that there will be an increased demand for accurate and early diagnosis of ADPKD in the not so distant future.

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)0.000
metaresearch head score (Gemma)0.011
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMetaresearch
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: Not applicable
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.163
Threshold uncertainty score0.997

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.011
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
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 head0.015
GPT teacher head0.281
Teacher spread0.266 · 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.

Study designNot applicable
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".

Quick stats

Citations4
Published2008
Admission routes1
Has abstractyes

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