Evidence map›Paper›PMID 40270650›Full record

ArticleEuropean journal of case reports in internal medicine2025

Hyperinflammation and Blindness. Screening for ROSAH Syndrome.

Fernando Tornero-Romero, Rosa Sánchez-Hernandez, Lara Cantero-Del Olmo, Andres Saravia-Moya, Marina Gonzalez de Rivera-Utrera, Ana Isabel Sánchez-Barbero, Ester Carreño-Salas

Abstract read
In one paragraph

Article in European journal of case reports in internal medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. Article
  2. Article
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

7 authors.

Fernando Tornero-RomeroInternal Medicine, Fundación Jiménez Díaz, Madrid, Spain.
Rosa Sánchez-HernandezNephrology, Hospital de Villalba, Madrid, Spain.
Lara Cantero-Del OlmoInternal Medicine, Fundación Jiménez Díaz, Madrid, Spain.
Andres Saravia-MoyaCritical Care Unit, Fundación Jiménez Díaz, Madrid, Spain.
Marina Gonzalez de Rivera-UtreraNephrology, Fundación Jiménez Díaz, Madrid, Spain.
Ana Isabel Sánchez-BarberoGenetic Department, Fundación Jiménez Díaz, Madrid, Spain.
Ester Carreño-SalasOphthalmology, Fundación Jiménez Díaz, Madrid, Spain.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In 2019, ROSAH syndrome (retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis, and headache) was identified in five families, attributed to a mutation in the LEARNING POINTS: ROSAH is a syndrome that includes retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and headache.So far it has only been reported in five families who have a mutation in the

Indexed as

ALPK1 geneinflammationoptic nerve oedemaROSAH syndrometocilizumab

Identifiers

PMID40270650
PMCPMC12013225

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.