Barth Syndrome: An Under-Recognized Cause of Chronic Neutropenia
Bibliographic record
Abstract
Abstract Barth syndrome is an X-linked disease characterized by defective remodeling of phospholipid side chains in mitochondrial membranes. Major features include neutropenia, fetal or childhood onset dilated cardiomyopathy, motor delay and proximal myopathy, feeding problems and constitutional growth delay. Improved diagnostic testing, recognition of the wide disease phenotype and a worldwide patient/family support network have recently facilitated much more rapid ascertainment, now with at least 186 living males diagnosed worldwide. We provide a comprehensive survey of neutropenia seen in Barth syndrome and its management based on the study of 90 patients. Neutropenia (i.e. at least one count less than 1.5 x 109/L) was detected in 74 of 90 (82%) patients; 28 of 90 (31%) patients had a mean neutrophil count less than 1.5 x 109/L; 13 of 90 (14%) had a mean count less than 0.5 x 109/L. Neutropenia may be the sole presenting feature in Barth syndrome. Importantly, it can take on any form: intermittent and unpredictable, chronically severe or cyclical, thus mimicking other diseases. Eighty-seven patients had reported monocyte data. Monocytosis was seen in 65 of 87 (75%) patients with at least one monocyte count greater than 1.0 x 109/L and 23 of 87 (26%) had at least one monocyte count greater than 3.0 x 109/L. Some patients who were neutropenic and had a bone marrow evaluation showed myelocyte arrest. Neutropenic Barth patients are highly responsive to granulocyte colony-stimulating factor, although dosing can be challenging because of innate variations in their neutrophil counts. Clinical improvement with reduced signs and symptoms of infections is the usual response to this treatment. Barth syndrome should be considered in any male with neutropenia accompanied by any of the characteristic features of Barth syndrome and in those with idiopathic neutropenia. Disclosures Dale: Amgen: Consultancy, Honoraria, Research Funding.
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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 | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.001 | 0.000 |
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.
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".