Evidence map›Paper›PMID 31229977›Full record

ArticleBMJ case reports2019

BMPR1A mutation-positive juvenile polyposis syndrome and atrial septal defect: coincidence or association?

Rachel E Harris, Richard K Russell

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

Article in BMJ case reports, 2019. 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
0.2field-weighted citation impact, top 43% 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, 10 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

2 authors at 1 institution in 1 country.

Rachel E HarrisDepartment of Paediatric Gastroenterology, Hepatology and Nutrition, Royal Hospital for Children Glasgow, Glasgow, UK.ORCID http://orcid.org/0000-0001-6507-3487
Richard K RussellDepartment of Paediatric Gastroenterology, Hepatology and Nutrition, Royal Hospital for Children Glasgow, Glasgow, UK.
Royal Hospital for Children · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We describe the case of a 16-year-old male patient with BMPR1A mutation and incidentally detected atrial septal defect (ASD). This patient was diagnosed with BMPR1A mutation through genetic testing and was attending for routine surveillance endoscopy when ASD was incidentally diagnosed. He was referred to cardiology outpatient clinic with plans for elective ASD closure. Through this case report we aim to discuss the pathophysiology of juvenile polyposis syndrome (JPS), highlight what we believe to be a novel presentation of comorbid BMPR1A mutation and ASD and hypothesise that patients with BMPR1A mutation and JPS may be at risk of previously unrecognised cardiovascular complications analogous to the previous association of SMAD4 JPS and cardiac abnormalities.

Indexed as

AdolescentBone Morphogenetic Protein Receptors, Type IGerm-Line MutationHeart Septal Defects, AtrialHumansIntestinal PolyposisMaleNeoplastic Syndromes, HereditaryPhenotypeBMPR1A protein, humanBone Morphogenetic Protein Receptors, Type Icardiovascular medicinegastroenterologygenetics

Identifiers

PMID31229977
PMCPMC6605934
OpenAlexW2951339367

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.