Evidence map›Paper›PMID 32335870›Full record

ReviewActa neurologica Belgica2021

Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation.

Antoon Meylemans, Pieter Depuydt, Elfride De Baere, Katrien Hertegonne, Eric Derom, Bart Dermaut, Dimitri Hemelsoet

Abstract readCase ReportsReview
PubMed Publisher
In one paragraph

Review in Acta neurologica Belgica, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.3field-weighted citation impact, top 52% 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

3 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Adolescent Congenital Central Hypoventilation Syndrome: An Easily Overlooked Diagnosis.International journal of environmental research and public health · 2021
    Review
  3. 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

7 authors at 1 institution in 1 country.

Antoon MeylemansDepartment of Neurology, Ghent University Hospital, C.-Heymanslaan 10, 9000, Ghent, Belgium. antoonmeylemans@gmail.com.ORCID http://orcid.org/0000-0002-0581-9133
Pieter DepuydtDepartment of Intensive Care Medicine, Ghent University Hospital, Ghent, Belgium.
Elfride De BaereCentre for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Katrien HertegonneCentre for Sleep Disorders, Department of Respiratory Medicine, Ghent University Hospital, Ghent, Belgium.
Eric DeromDepartment of Respiratory Medicine, Ghent University Hospital, Ghent, Belgium.
Bart DermautCentre for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Dimitri HemelsoetDepartment of Neurology, Ghent University Hospital, Ghent, Belgium.
Ghent University Hospital · BE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Central hypoventilation in adult patients is a rare life-threatening condition characterised by the loss of automatic breathing, more pronounced during sleep. In most cases, it is secondary to a brainstem lesion or to a primary pulmonary, cardiac or neuromuscular disease. More rarely, it can be a manifestation of congenital central hypoventilation syndrome (CCHS). We here describe a 25-year-old woman with severe central hypoventilation triggered by analgesics. Genetic analysis confirmed the diagnosis of adult-onset CCHS caused by a heterozygous de novo poly-alanine repeat expansion of the PHOX2B gene. She was treated with nocturnal non-invasive ventilation. We reviewed the literature and found 21 genetically confirmed adult-onset CCHS cases. Because of the risk of deleterious respiratory complications, adult-onset CCHS is an important differential diagnosis in patients with central hypoventilation.

Indexed as

AdultAge of OnsetFemaleHomeodomain ProteinsHumansHypoventilationMutationSleep Apnea, CentralTranscription FactorsHomeodomain ProteinsNBPhox proteinTranscription FactorsAutonomicCentral congenital hypoventilation syndromeHirschsprung diseaseNeural crest tumoursPHOX2BPolyalanine repeat expansion mutation

Identifiers

PMID32335870
OpenAlexW3020015139

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.