Eine seltene ND5-Mutation, die die hereditäre Leber’sche Optikusneuropathie verursacht
Bibliographic record
Abstract
Mutationen im ND5-Gen werden selten mit der Leber’schen hereditären Optikusneuropathie (LHON) in Verbindung gebracht. Wir beschreiben einen 57-jährigen Mann mit der Mutation m.13528A>G, p.(Thr398Ala) im ND5-Gen, der sich mit einem progredienten beidseitigen Sehverlust über einen Zeitraum von 3 Monaten vorstellte. In der Vorgeschichte hatte er stark geraucht und Alkohol getrunken. Die Gesichtsfelduntersuchung ergab beidseitige zentrale Skotome. Bei der Nachuntersuchung nach 2 Jahren hatte sich seine Sehschärfe im Vergleich zum Ausgangswert verbessert und es wurde eine temporale Papillenblässe an beiden Augen festgestellt. In der Literatur gibt es nur wenige Berichte über diese Mutation und dieser Fallbericht erweitert das klinische Bild der m.13528A>G-Mutation im ND5-Gen bei Patienten mit LHON-Phänotyp.
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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) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.004 | 0.001 |
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.
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".