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obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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NTR: Conjunctival biopsy: spheroids (Lab: pathology: biopsies & morphology) #9239

Closed pnrobinson closed 4 months ago

pnrobinson commented 1 year ago

New term request Conjunctival biopsy: spheroids (segal_110421155504):

pnrobinson commented 1 year ago

@MickeySegal please check whether this refers to this finding: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9358195/

MickeySegal commented 1 year ago

They don't mention axons. Our finding is based on https://www.ncbi.nlm.nih.gov/books/NBK1675/ "If no PLA2G6 pathogenic variants are identified but the evolving phenotype remains most consistent with INAD or atypical NAD, a biopsy for identification of dystrophic axons (axonal spheroids) can be considered. Electron microscopic (EM) examination of nerve ultrastructure should be done on one of the following preferred tissues: conjunctiva, skin, rectum, muscle, or other peripheral nerve (sural)."

pnrobinson commented 9 months ago

@MickeySegal For conjunctival spheroids, this is what I am finding https://pubmed.ncbi.nlm.nih.gov/32076391/ I am wondering if this is not well defined enough to make a term at this time?

MickeySegal commented 8 months ago

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8742877/ defines "Axonal spheroids are bubble-like biological features that form on most degenerating axons".

pnrobinson commented 6 months ago

@MickeySegal -- but the above is axonal spheroids and this term request is for conjunctival spheroids?

MickeySegal commented 6 months ago

As quoted above from https://www.ncbi.nlm.nih.gov/books/NBK1675/ , axonal spheroids can be detected in a conjunctival biopsy.

pnrobinson commented 4 months ago

@MickeySegal ok, adding as a child of abn. neuron morphology since this is not a conjunctiva specific finding! Adding new term: