Evidence map›Paper›PMID 35260397›Full record

ArticleBMJ case reports2022

ARHGEF-10 gene mutation presenting as orbital inflammatory syndrome.

Emily K Tam, Nora V Laver, Manisha Thakore-James, Michael A Mooney, Mary K Daly, Daniel R Lefebvre

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMJ case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 95% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 4 institutions in 1 country.

Emily K TamVeterans Affairs Boston Healthcare System, Jamaica Plain, Massachusetts, USA etam512@gmail.com.ORCID http://orcid.org/0000-0002-5982-1140
Nora V LaverDepartment of Pathology and Department of Ophthalmology, Tufts University School of Medicine, Boston, Massachusetts, USA.
Manisha Thakore-JamesVeterans Affairs Boston Healthcare System, Jamaica Plain, Massachusetts, USA.
Michael A MooneyVeterans Affairs Boston Healthcare System, Jamaica Plain, Massachusetts, USA.
Mary K DalyVeterans Affairs Boston Healthcare System, Jamaica Plain, Massachusetts, USA.
Daniel R LefebvreVeterans Affairs Boston Healthcare System, Jamaica Plain, Massachusetts, USA.
Boston University · USHarvard University · USBrigham and Women's Hospital · USTufts University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Rho guanine nucleotide exchange factor 10 (ARHGEF-10) is a RHO GTPase that has a role for neural morphogenesis, however its effect on the eyes remains unknown. Here, we report a 44-year-old man who presented with eyelid swelling along with a history of bilateral hand contractures, high-arched feet and muscle wasting, who was found to have an ARHGEF-10 mutation. Neuroimaging was significant for numerous nerve-based cystic abnormalities in the bilateral orbits and throughout the neuraxis, and an orbital biopsy revealed S-100 and SOX-10 positive lesion consistent with pseudocysts. While the role of ARHGEF-10 remains unclear, further research is warranted to further describe its clinical manifestations.

Indexed as

EyeOrbitAdultEye DiseasesHumansInflammationMaleMutationRho Guanine Nucleotide Exchange FactorsSyndromeARHGEF10 protein, humanRho Guanine Nucleotide Exchange Factorseyeneurology (drugs and medicines)

Identifiers

PMID35260397
PMCPMC8905991
OpenAlexW4220760364

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.