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Recurrent Alternating Homonymous Hemianopia Due to Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS) (P4.260)

2016· article· en· W2337789414 on OpenAlexaff
Kristen M. Krysko, Arun Sundaram

Bibliographic record

VenueNeurology · 2016
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicMitochondrial Function and Pathology
Canadian institutionsHealth Sciences CentreSunnybrook Health Science CentreUniversity of Toronto
Fundersnot available
KeywordsMitochondrial encephalomyopathyLactic acidosisMedicineMELAS syndromeMitochondrial myopathyStroke (engine)CardiologyInternal medicineMitochondrial DNABiologyGeneticsPhysics

Abstract

fetched live from OpenAlex

OBJECTIVE: To describe a unique case of recurrent alternating homonymous hemianopia due to mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). BACKGROUND: MELAS is a maternally inherited multi-system mitochondrial disorder, commonly presenting with seizures, stroke-like episodes, recurrent headaches, cortical visual loss and weakness. Three cases of MELAS presenting with alternating hemianopia have been reported, but recurrent alternating homonymous hemianopia has not been described previously. DESIGN/METHODS: Case report reviewing clinical, laboratory, radiology and visual field results. RESULTS: A 16 year old female with a learning disability presented with headaches and myoclonic epilepsy. Neurologic examination revealed mild left leg weakness and a left superior quadrantanopia confirmed on Goldman perimetry. MRI brain showed T2/FLAIR hyperintense right occipital and bilateral peri-rolandic lesions with elevated lactate on MR Spectroscopy. Serum lactate was normal. Initial mitochondrial mutation testing and muscle biopsy were negative. Sequencing of the whole mitochondrial DNA revealed the ND3 mitochondrial mutation T10191C. MELAS was diagnosed. Seizures were initially controlled with antiepileptics and nine months later, the visual field defect and MRI brain lesions improved. Seizures and myoclonus worsened the following year. Subsequently, she developed left sided weakness and worsening vision with a right parietal T2/FLAIR hyperintense lesion on MRI and a recurrent left homonymous hemianopia on Humphrey visual fields. Repeat MRI brain one year later showed resolution and visual fields improved again. Three years later, she developed worsening headaches and a new right homonymous hemianopia. MRI brain showed new T2/FLAIR hyperintensities in the left parietal, superior temporal and posterior perisylvian cortex. One year later, she unfortunately developed progressive aphasia, cognitive impairment, dysarthria, dysphagia, ataxia, cortical blindness and terminal refractory status epilepticus. CONCLUSIONS: We describe a unique phenomenon of recurrent alternating homonymous hemianopia in MELAS, which should prompt consideration of this diagnosis.

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)0.000
metaresearch head score (Gemma)0.001
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Case report · Consensus signal: Case report
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.002
Threshold uncertainty score0.006

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0020.001
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0010.001
Science and technology studies0.0010.001
Scholarly communication0.0010.001
Open science0.0010.001
Research integrity0.0020.001
Insufficient payload (model declined to judge)0.0020.001

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 head0.008
GPT teacher head0.222
Teacher spread0.215 · 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 designCase report
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

Citations0
Published2016
Admission routes1
Has abstractyes

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