Reply
Bibliographic record
Abstract
Letter to: The pathogenicity of variant c.597dup in SLC19A3 and treatability of its phenotype remain unconfirmed Arq Neuropsiquiatr 2024; 82(04): 001-002 DOI: 10.1055/s-0044-1786024 The pathogenicity of variant c.597dup in SLC19A3 and treatability of its phenotype remain unconfirmed Dear Editor, Initially, we would like to thank Josef Finsterer and Fulvio Scorza for their comments and for the opportunity to discuss this case report.[ 1 ] There is a typing error, and the correct name of the gene in question is SLC19A3, whose inheritance is indeed autosomal recessive. Genetic exome analysis showed 2 different mutations in the SLC19A3 gene. A pathogenic variant c.597dup p.(His200Serfs*25) and a variant of uncertain significance (VUS) c.488C > T p.(Ser163Phe). These mutations are on different alleles (compound heterozygosity), which would function as homozygosity. This would explain the disease and the variant of uncertain significance should be reclassified as probably pathogenic. So far, therefore, we do not doubt the diagnosis, after a multidisciplinary discussion with a pediatric neurologist and geneticist. The patient in question did not die, and showed a slight clinical improvement with treatment, despite having sequelae and a very poor prognosis due to the parenchymal changes in the brain, even with high-dose treatment. He is currently taking 500 mg of thiamine and 80 mg of biotin in the morning and 300 mg of thiamine and 40 mg of biotin in the evening. The parents' genetic tests have been requested but are not yet available at the time of this letter. We would like to thank you again for the comments and the possibility of corrections and clarifications. Publication History Received: 08 March 2024 Accepted: 13 March 2024 Article published online: 12 April 2024 © 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/) Thieme Revinter Publicações Ltda. Rua do Matoso 170, Rio de Janeiro, RJ, CEP 20270-135, Brazil Bibliographical Record Leonardo Furtado Freitas, Eduardo Carvalho Miranda, Thelma Ribeiro Noce, Aline Pimentel Amaro, Márcio Luís Duarte. Reply. Arq Neuropsiquiatr 2024; 82: s00441786025. DOI: 10.1055/s-0044-1786025
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot 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.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.017 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.003 | 0.002 |
| Scholarly communication | 0.002 | 0.003 |
| Open science | 0.002 | 0.001 |
| Research integrity | 0.030 | 0.027 |
| Insufficient payload (model declined to judge) | 0.019 | 0.018 |
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.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
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".