Evidence map›Paper›PMID 32741443›Full record

ArticleJournal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine2020

Adult cases of late-onset congenital central hypoventilation syndrome and paired-like homeobox 2B-mutation carriers: an additional case report and pooled analysis.

Aoi Hino, Jiro Terada, Hajime Kasai, Hikaru Shojima, Keiko Ohgino, Ayako Sasaki, Kiyoshi Hayasaka, Koichiro Tatsumi

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PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
1.1field-weighted citation impact, top 27% 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

5 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. Review
  5. Some congenital diseases may just show up later.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2020
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

8 authors at 3 institutions in 1 country.

Aoi HinoDepartment of Respirology, Graduate School of Medicine, Chiba University, Chiba, Japan.
Jiro TeradaDepartment of Respirology, Graduate School of Medicine, Chiba University, Chiba, Japan.
Hajime KasaiDepartment of Respirology, Graduate School of Medicine, Chiba University, Chiba, Japan.
Hikaru ShojimaSchool of Medicine, Chiba University, Chiba, Japan.
Keiko OhginoDepartment of Respiratory Medicine, Kawasaki Municipal Hospital, Kawasaki City, Japan.
Ayako SasakiDepartment of Pediatrics, Yamagata University School of Medicine, Yamagata City, Japan.
Kiyoshi HayasakaDepartment of Pediatrics, Yamagata University School of Medicine, Yamagata City, Japan.
Koichiro TatsumiDepartment of Respirology, Graduate School of Medicine, Chiba University, Chiba, Japan.
Chiba University · JPYamagata University · JPKawasaki Municipal Hospital · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

STUDY

objectivesCongenital central hypoventilation syndrome (CCHS) is caused by the paired-like homeobox 2B (PHOX2B) mutation and predominantly diagnosed during the neonatal period. Although late-onset CCHS and PHOX2B mutation carriers have been reported, the features of these disease states in adults remain uncertain. This study aimed to identify the characteristics of adult-onset CCHS and PHOX2B-mutation carriers in adult.

methodsWe mainly searched the PubMed/Medline and Cochrane Databases and classified our target patients into 2 groups: group A, symptomatically diagnosed with late-onset CCHS in adulthood; group B, adult PHOX2B-mutation carriers. Then, clinical characteristics, including the onset, treatment, long-term course, and pattern of the PHOX2B mutation in both groups were analyzed. Additionally, a new adult-case of late-onset CCHS was added to the analysis.

resultsGroup A was comprised of 12 patients. The onset triggers of illness included a history of respiratory compromise following general anesthesia and respiratory tract infections. All patients in group A had 20/25 polyalanine repeat mutations and required some chronic ventilatory support at least during sleep, including portable positive pressure ventilator via tracheostomy or noninvasive positive pressure ventilation. In these patients with ventilatory support during sleep, sudden death or poor prognosis was not reported. Group B was comprised of 33 adults from 24 families with PHOX2B mutations. Nine patients in group B were confirmed with the diagnosis of CCHS. Although polyalanine repeat mutations 20/25 represented the most common gene mutation, diverse mutations, including mosaicism, were observed. Hypoventilation of several cases in group B were underdiagnosed by overnight polysomnography without monitoring for CO₂.

conclusionAlveolar hypoventilation with unknown origin can be caused by the PHOX2B mutation even in adult cases. Both the identification of the PHOX2B mutation and the incorporation of capnography in polysomnography are important for adult cases with unexplained alveolar hypoventilation or asymptomatic mutation carriers.

Indexed as

Genes, HomeoboxSleep Apnea, CentralAdultHomeodomain ProteinsHumansHypoventilationInfant, NewbornMutationHomeodomain ProteinsCCHScongenital central hypoventilation syndromelate-onset CCHSPHOX2Bpolysomnographytranscutaneous carbon dioxide monitoring

Identifiers

PMID32741443
PMCPMC8034226
OpenAlexW3047510843

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.