Evidence map›Paper›PMID 36833253›Full record

ArticleGenes2023

Use of Next-Generation Sequencing to Support the Diagnosis of Familial Interstitial Pneumonia.

Ana Rita Gigante, Eduarda Milheiro Tinoco, Ana Fonseca, Inês Marques, Agostinho Sanches, Natália Salgueiro, Carla Nogueira, Sérgio Campainha, Sofia Neves

Open access · goldAbstract read
In one paragraph

Article in Genes, 2023. 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, top 99% 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

2 citing papers in PubMed, 0 citations in OpenAlex.

  1. Review
  2. Review
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

9 authors at 2 institutions in 1 country.

Ana Rita GiganteServiço de Pneumologia, Centro Hospitalar de Vila Nova de Gaia/Espinho, 4434-502 Vila Nova de Gaia, Portugal.ORCID 0000-0002-7670-048X
Eduarda Milheiro TinocoServiço de Pneumologia, Centro Hospitalar de Vila Nova de Gaia/Espinho, 4434-502 Vila Nova de Gaia, Portugal.ORCID 0000-0002-4306-8174
Ana FonsecaServiço de Pneumologia, Centro Hospitalar de Vila Nova de Gaia/Espinho, 4434-502 Vila Nova de Gaia, Portugal.
Inês MarquesServiço de Imagiologia, Centro Hospitalar de Vila Nova de Gaia/Espinho, 4434-502 Vila Nova de Gaia, Portugal.
Agostinho SanchesServiço de Anatomia Patológica, Centro Hospitalar de Vila Nova de Gaia/Espinho, 4434-502 Vila Nova de Gaia, Portugal.
Natália SalgueiroDepartamento de Genética Molecular, Synlab-Genética Médica, 4100-321 Porto, Portugal.
Carla NogueiraServiço de Pneumologia, Centro Hospitalar de Vila Nova de Gaia/Espinho, 4434-502 Vila Nova de Gaia, Portugal.
Sérgio CampainhaServiço de Pneumologia, Centro Hospitalar de Vila Nova de Gaia/Espinho, 4434-502 Vila Nova de Gaia, Portugal.
Sofia NevesServiço de Pneumologia, Centro Hospitalar de Vila Nova de Gaia/Espinho, 4434-502 Vila Nova de Gaia, Portugal.ORCID 0000-0002-6448-5436
Centro Hospitalar de Vila Nova de Gaia · PTCentro de Genética Clínica · PT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Familial interstitial pneumonia (FIP) is defined as idiopathic interstitial lung disease (ILD) in two or more relatives. Genetic studies on familial ILD discovered variants in several genes or associations with genetic polymorphisms. The aim of this study was to describe the clinical features of patients with suspected FIP and to analyze the genetic variants detected through next-generation sequencing (NGS) genetic testing. A retrospective analysis was conducted in patients followed in an ILD outpatient clinic who had ILD and a family history of ILD in at least one first- or second-degree relative and who underwent NGS between 2017 and 2021. Only patients with at least one genetic variant were included. Genetic testing was performed on 20 patients; of these, 13 patients had a variant in at least one gene with a known association with familial ILD. Variants in genes implicated in telomere and surfactant homeostasis and

Indexed as

Idiopathic Pulmonary FibrosisLung Diseases, InterstitialHigh-Throughput Nucleotide SequencingHumansPolymorphism, GeneticRetrospective Studiesgeneticsinterstitial lung diseasephenotype

Identifiers

PMID36833253
PMCPMC9957248
OpenAlexW4318477583

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.