Evidence map›Paper›PMID 38432987›Full record

ArticleInternal medicine (Tokyo, Japan)2024

Primary Ciliary Dyskinesia Caused by Homozygous DNAAF1 Mutations Resulting from a Consanguineous Marriage: A Case Report from Japan.

Masashi Ito, Kozo Morimoto, Mikio Saotome, Akiko Miyabayashi, Keiko Wakabayashi, Hiroyuki Yamada, Minako Hijikata, Naoto Keicho, Ken Ohta

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

Article in Internal medicine (Tokyo, Japan), 2024. 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
1.3field-weighted citation impact, top 21% 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, 3 citations in OpenAlex.

  1. Article
  2. Exome sequencing-based identification ofFrontiers in molecular biosciences · 2026
    Article
  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

9 authors at 2 institutions in 1 country.

Masashi ItoRespiratory Disease Center, Fukujuji Hospital, Japan Anti-Tuberculosis Association, Japan.
Kozo MorimotoRespiratory Disease Center, Fukujuji Hospital, Japan Anti-Tuberculosis Association, Japan.
Mikio SaotomeRespiratory Disease Center, Fukujuji Hospital, Japan Anti-Tuberculosis Association, Japan.
Akiko MiyabayashiDepartment of Pathophysiology and Host Defense, the Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association, Japan.
Keiko WakabayashiDepartment of Pathophysiology and Host Defense, the Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association, Japan.
Hiroyuki YamadaDepartment of Mycobacterium Reference and Research, the Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association, Japan.
Minako HijikataDepartment of Pathophysiology and Host Defense, the Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association, Japan.
Naoto KeichoThe Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association, Japan.
Ken OhtaRespiratory Disease Center, Fukujuji Hospital, Japan Anti-Tuberculosis Association, Japan.
Japan Anti Tuberculosis Association · JPFukujuji Hospital · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We present the case of a 58-year-old female patient with primary ciliary dyskinesia (PCD). She was born to parents with a consanguineous marriage. Chest computed tomography conducted at age 41 years indicated no situs inversus, and findings of bronchiectasis were limited to the middle and lingular lobes. Despite long-term macrolide therapy, bronchiectasis exacerbations frequently occurred. PCD was suspected because of the low nasal nitric oxide level (20.7 nL/min). Electron microscopy revealed outer and inner dynein arm defects, and a genetic analysis identified a homozygous single-nucleotide deletion in the DNAAF1 gene. Based on these results, the patient was diagnosed with PCD due to a biallelic DNAAF1 mutation.

Indexed as

ConsanguinityHomozygoteKartagener SyndromeMutationBronchiectasisFemaleHumansJapanMiddle AgedbronchiectasisDNAAF1primary ciliary dyskinesia

Identifiers

PMID38432987
PMCPMC11557207
OpenAlexW4392442963

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.