Evidence map›Paper›PMID 30574935›Full record

ArticleIndian journal of ophthalmology2019

Familial Blau syndrome:First molecularly confirmed report from India.

Mahesh Janarthanan, Chanchal Poddar, S Sudharshan, Luis Seabra, Yanick J Crow

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

Article in Indian journal of ophthalmology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.4field-weighted citation impact, top 35% 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

3 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
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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

5 authors at 1 institution in 1 country.

Mahesh JanarthananDivision of Pediatric Rheumatology, Department of Pediatrics, Sri Ramachandra University, Chennai, Tamil Nadu, India.
Chanchal PoddarMedical Research Foundation, Sankara Nethralaya, Chennai, Tamil Nadu, India.
S SudharshanMedical Research Foundation, Sankara Nethralaya, Chennai, Tamil Nadu, India.
Luis SeabraINSERM UMR1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France.
Yanick J CrowINSERM UMR1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France; Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
Sri Ramachandra Institute of Higher Education and Research · IN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Blau syndrome (BS) is a rare autoinflammatory disorder characterized by the clinical triad of arthritis, uveitis, and dermatitis due to heterozygous gain-of-function mutations in the NOD2 gene. BS can mimic juvenile idiopathic arthritis (JIA)-associated uveitis, rheumatoid arthritis, and ocular tuberculosis. We report a family comprising a mother and her two children, all presenting with uveitis and arthritis. A NOD2 mutation was confirmed in all the three patients - the first such molecularly proven case report of familial BS from India.

Indexed as

MutationAdultArthritisDNADNA Mutational AnalysisFemaleHereditary Autoinflammatory DiseasesHumansIndiaMolecular Diagnostic TechniquesNod2 Signaling Adaptor ProteinSarcoidosisSlit Lamp MicroscopySynovitisUveitisDNANOD2 protein, humanNod2 Signaling Adaptor ProteinBlau syndromejuvenile idiopathic arthritis-associated uveitisNOD2ocular sarcoidosisocular tuberculosis

Identifiers

PMID30574935
PMCPMC6324106
OpenAlexW2905819000

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-SA
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.