Evidence map›Paper›PMID 30791716›Full record

ArticleJournal of investigative medicine high impact case reports

Severe Restrictive Lung Disease in One of the Oldest Documented Males With Coffin-Lowry Syndrome.

Frederick Venter, Andrew Evans, Claudia Fontes, Carol Stewart

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

Article in Journal of investigative medicine high impact case reports. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
–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

1 citing paper in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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

4 authors.

Frederick Venter1 Kern Medical Center, Bakersfield, CA, USA.ORCID 0000-0002-1282-634X
Andrew Evans1 Kern Medical Center, Bakersfield, CA, USA.
Claudia Fontes1 Kern Medical Center, Bakersfield, CA, USA.
Carol Stewart2 Rio Bravo Family Medicine Residency Program, Bakersfield, CA, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Coffin-Lowry syndrome is expressed as different phenotypes in males and females. In males, it is characterized by facial abnormalities, marked developmental disability, and skeletal changes. Approximately 80% of cases are associated with kyphoscoliosis, which can be quite severe, as seen in our patient, causing paraplegia and restrictive lung disease. In this article, we present the third oldest documented male case of Coffin-Lowry syndrome with severe kyphoscoliosis, paraplegia, and restrictive lung disease.

Indexed as

Abnormalities, MultipleAdultCoffin-Lowry SyndromeHumansLung DiseasesMaleParaplegiaPhenotypeRadiography, ThoracicRibosomal Protein S6 Kinases, 90-kDaScoliosisTomography, X-Ray Computedribosomal protein S6 kinase, 90kDa, polypeptide 3Ribosomal Protein S6 Kinases, 90-kDaCobb’s angleCoffin-Lowrykyphoscoliosismental retardationrestrictive lung disease

Identifiers

PMID30791716
PMCPMC6350156

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.