Evidence map›Paper›PMID 33849881›Full record

ArticleBMJ case reports2021

Carney complex: a curious case of a rare cancer syndrome caused by a novel pathogenic mutation in the

Nisha Gupta, Thomas Kitzler, Steffen Albrecht, Vincent Larouche

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

Article in BMJ case reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.3field-weighted citation impact, top 41% 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

0 citing papers in PubMed, 2 citations in OpenAlex.

No citing paper in PubMed yet.

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 at 3 institutions in 1 country.

Nisha GuptaDepartment of Internal Medicine, McGill University Health Centre, Montreal, Québec, Canada.ORCID http://orcid.org/0000-0002-8799-1171
Thomas KitzlerDepartment of Medicine - Division of Medical Genetics, McGill University Health Centre, Montreal, Québec, Canada.
Steffen AlbrechtDepartment of Neuro-Pathology, Montreal Neurological Hospital, Montreal, Québec, Canada.
Vincent LaroucheDivision of Endocrinology and Metabolism, Jewish General Hospital, McGill University, Montreal, Québec, Canada vincent.larouche@mcgill.ca.
McGill University Health Centre · CAJewish General Hospital · CAMontreal Neurological Institute and Hospital · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A 39-year-old woman was referred to the cancer genetics outpatient clinic for a clinical diagnosis of Carney complex (CNC) in her deceased brother. The patient had some characteristic clinical features such as periorbital lentigines and coarse facial features, suggestive of CNC; however, she did not meet major diagnostic criteria for CNC. Previous extensive investigations revealed a mild insulin-like growth factor 1 elevation, a stable left adrenal gland adenoma and a slightly enlarged pituitary gland. Single gene sequencing confirmed a novel pathogenic mutation in the

Indexed as

Carney ComplexAdultCanadaCyclic AMP-Dependent Protein Kinase RIalpha SubunitFemaleGenetic TestingHumansMaleMutationCyclic AMP-Dependent Protein Kinase RIalpha SubunitPRKAR1A protein, humanendocrinologygeneticsgenetic screening / counselling

Identifiers

PMID33849881
PMCPMC8051370
OpenAlexW3155006925

What OpenQuestion holds

Textmetadata
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.