Evidence map›Paper›PMID 38927735›Full record

ArticleGenes2024

Blau Syndrome: Challenging Molecular Genetic Diagnostics of Autoinflammatory Disease.

Michaela Brichova, Aneta Klimova, Jarmila Heissigerova, Petra Svozilkova, Manuela Vaneckova, Pavla Dolezalova, Dana Nemcova, Marcela Michalickova, Jana Jedlickova, Lubica Dudakova and 1 more

Abstract readCase Reports
In one paragraph

Article in Genes, 2024. 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

11 authors.

Michaela BrichovaDepartment of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, U Nemocnice 2, 128 08 Prague, Czech Republic.
Aneta KlimovaDepartment of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, U Nemocnice 2, 128 08 Prague, Czech Republic.ORCID 0000-0002-3658-4429
Jarmila HeissigerovaDepartment of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, U Nemocnice 2, 128 08 Prague, Czech Republic.ORCID 0000-0002-2614-4681
Petra SvozilkovaDepartment of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, U Nemocnice 2, 128 08 Prague, Czech Republic.
Manuela VaneckovaDepartment of Radiology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Katerinska 30, 128 21 Prague, Czech Republic.
Pavla DolezalovaDepartment of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08 Prague, Czech Republic.
Dana NemcovaDepartment of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08 Prague, Czech Republic.
Marcela MichalickovaDepartment of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, U Nemocnice 2, 128 08 Prague, Czech Republic.
Jana JedlickovaDepartment of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08 Prague, Czech Republic.
Lubica DudakovaDepartment of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08 Prague, Czech Republic.ORCID 0000-0003-4718-8955
Petra LiskovaDepartment of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, U Nemocnice 2, 128 08 Prague, Czech Republic.ORCID 0000-0001-7834-8486

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The aim of this study was to describe the clinical and molecular genetic findings in seven individuals from three unrelated families with Blau syndrome. A complex ophthalmic and general health examination including diagnostic imaging was performed. The

Indexed as

ArthritisMutationNod2 Signaling Adaptor ProteinPedigreeSarcoidosisSynovitisUveitisArthropathy, NeurogenicCentral Nervous System DiseasesExome SequencingHereditary Autoinflammatory DiseasesHumansLymphedemaNOD2 protein, humanNod2 Signaling Adaptor ProteinautoinflammationBlau syndromeearly onset sarcoidosisneurosarcoidosisNOD2uveitis

Identifiers

PMID38927735
PMCPMC11203189

What OpenQuestion holds

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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.