Evidence map›Paper›PMID 39950113›Full record

ArticleFrontiers in pharmacology2025

Case report: Infantile pulmonary alveolar proteinosis associated with cytosolic isoleucyl-tRNA synthetase deficiency.

Jie Wu, Yimu Fan, Feng Huo, Jie Deng, Quan Wang, Yuelin Shen

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in pharmacology, 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

6 authors.

Jie WuEmergency Department, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Yimu FanEmergency Department, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Feng HuoEmergency Department, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Jie DengNeurology Department, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Quan WangPediatric Intensive Care Unit, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Yuelin ShenRespiratory Department II, National Clinical Research Center for Respiratory Diseases, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Cytosolic isoleucyl-tRNA synthetase (IARS1) deficiency, an exceptionally rare autosomal recessive inherited disorder, is characterized by multiple system involvement, including growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy. Pulmonary alveolar proteinosis (PAP) is a rare phenotype of IARS1 deficiency, having been reported in only two siblings from the same family. In this study, we present a case of IARS1 deficiency in a 5-month-old boy, who exhibited PAP as the initial and predominant manifestation. Additionally, whole-exome sequencing identified compound heterozygous variants in the

Indexed as

case repoortgene muatationIARS1 geneinfantpulmonary alveolar proteinosis (PAP)

Identifiers

PMID39950113
PMCPMC11821940

What OpenQuestion holds

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Registered trials

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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.