Evidence map›Paper›PMID 36136119›Full record

ArticlePediatric radiology2023

Brain imaging findings in Liberfarb syndrome: hypomyelination and optic nerve and cerebellar atrophy.

Eduarda Pinto, Catarina Pinto, Cristina Ramos, José E Alves

Abstract read
PubMed Publisher
In one paragraph

Article in Pediatric radiology, 2023. 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
0.1field-weighted citation impact, top 57% 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, 1 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

4 authors at 1 institution in 2 countries.

Eduarda PintoNeuroradiology Department, Centro Hospitalar Universitário Do Porto, Porto, Portugal. eduardapinto92@gmail.com.ORCID http://orcid.org/0000-0003-3413-2792
Catarina PintoNeuroradiology Department, Centro Hospitalar Universitário Do Porto, Porto, Portugal.ORCID http://orcid.org/0000-0003-0801-1153
Cristina RamosNeuroradiology Department, Centro Hospitalar Universitário Do Porto, Porto, Portugal.
José E AlvesNeuroradiology Department, Centro Hospitalar Universitário Do Porto, Porto, Portugal.
Centro Hospitalar do Porto · PT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Liberfarb syndrome is an extremely rare mitochondrial multisystem disorder, recently described and characterized by early-onset retinal degeneration and sensorineural hearing loss, spondyloepimetaphyseal dysplasia, joint laxity, short stature, microcephaly, developmental delay and intellectual disability, but clinical variability has been observed. We report a case that presented to the hospital with a flare-up of the disease. We describe the brain magnetic resonance imaging findings, which are still not well characterized, to raise awareness of this diagnosis.

Indexed as

Cerebellar DiseasesIntellectual DisabilityAtrophyHumansNeuroimagingOptic NerveBrainChildrenHypomyelinationLiberfarb syndromeMagnetic resonance imagingMitochondrial diseaseSkeletal dysplasia

Identifiers

PMID36136119
OpenAlexW4296621508

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.