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Record W2791144604 · doi:10.1182/blood-2017-10-810796

Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study

2018· article· en· W2791144604 on OpenAlexaff
Rachael F. Grace, Paola Bianchi, Eduard J. van Beers, Stefan Eber, Bertil Glader, Hassan M. Yaish, Jenny M. Despotovic, Jennifer Rothman, Mukta Sharma, Elisa Fermo, Kimberly Lezon-Geyda, D. Holmes Morton, Ellis J. Neufeld, Satheesh Chonat, Nina Kollmar, Christine Knoll, Kevin H.M. Kuo, Janet L. Kwiatkowski, Dagmar Pospı́šilová, Yves Pastore, Alexis A. Thompson, Peter E. Newburger, Yaddanapudi Ravindranath, Winfred C. Wang, Marcin W. Włodarski, Heng Wang, Susanne Holzhauer, Vicky R. Breakey, Joachim B. Kunz, Sujit Sheth, Melissa J. Rose, Heather A. Bradeen, Nolan Neu, Dongjing Guo, Hasan Al‐Sayegh, Wendy B. London, Patrick G. Gallagher, Alberto Zanella, Wilma Barcellini

Bibliographic record

VenueBlood · 2018
Typearticle
Languageen
FieldMedicine
TopicErythrocyte Function and Pathophysiology
Canadian institutionsCentre Hospitalier Universitaire Sainte-JustineMcMaster UniversityUniversity of TorontoUniversity Health Network
FundersAgios Pharmaceuticals
KeywordsPyruvate kinase deficiencyPyruvate kinaseMedicineSplenectomyInternal medicineGlycolysisMetabolismSpleen

Abstract

fetched live from OpenAlex

= .0017). Postsplenectomy thrombosis was reported in 11% of patients. The most frequent complications included iron overload (48%) and gallstones (45%), but other complications such as aplastic crises, osteopenia/bone fragility, extramedullary hematopoiesis, postsplenectomy sepsis, pulmonary hypertension, and leg ulcers were not uncommon. Overall, 87 (34%) of 254 patients had both a splenectomy and cholecystectomy. In those who had a splenectomy without simultaneous cholecystectomy, 48% later required a cholecystectomy. Although the risk of complications increases with severity of anemia and a genotype-phenotype relationship was observed, complications were common in all patients with PK deficiency. Diagnostic testing for PK deficiency should be considered in patients with apparent congenital hemolytic anemia and close monitoring for iron overload, gallstones, and other complications is needed regardless of baseline hemoglobin. This trial was registered at www.clinicaltrials.gov as #NCT02053480.

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 machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.002
Version: metacan-v3-hybrid-931329e0061cValidation 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 score0.010
Threshold uncertainty score0.033

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.002
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0100.001

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 head0.072
GPT teacher head0.325
Teacher spread0.253 · 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 source (direct Gemma or distilled Codex), 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".

Quick stats

Citations163
Published2018
Admission routes1
Has abstractyes

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