Evidence map›Paper›PMID 38960684›Full record

ArticleInternal medicine (Tokyo, Japan)2025

Primary Ciliary Dyskinesia Due to Compound Heterozygous Variants in CFAP221 with Obstructive Azoospermia: Young's Syndrome May Be a Phenotype of Primary Ciliary Dyskinesia.

Masashi Ito, Kozo Morimoto, Masakazu Ohashi, Keiko Wakabayashi, Akiko Miyabayashi, Hiroyuki Yamada, Minako Hijikata, Naoto Keicho

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Internal medicine (Tokyo, Japan), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. 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

8 authors.

Masashi ItoRespiratory Disease Center, Fukujuji Hospital, Japan Anti-Tuberculosis Association, Japan.
Kozo MorimotoRespiratory Disease Center, Fukujuji Hospital, Japan Anti-Tuberculosis Association, Japan.
Masakazu OhashiDepartment of Urology, Ogikubo Hospital, Japan.
Keiko WakabayashiDepartment of Pathophysiology and Host Defense, the Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association, Japan.
Akiko MiyabayashiDepartment 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.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report the case of a 42-year-old man with bronchiectasis who had a history of infertility treatment for obstructive azoospermia. Young's syndrome was suspected based on the triad of obstructive azoospermia, sinusitis, and bronchiectasis. He had normal electron microscopy findings, normal nasal nitric oxide levels (116 nL/min), and no situs inversus. However, we found compound heterozygous variants considered pathogenic in CFAP221. This led to a diagnosis of primary ciliary dyskinesia (PCD). Distinguishing PCD from Young's syndrome in patients with the triad of obstructive azoospermia, sinusitis, and bronchiectasis is challenging. Young's syndrome may be a phenotype of PCD.

Indexed as

AzoospermiaCiliary Motility DisordersKartagener SyndromeAdultBronchiectasisHeterozygoteHumansMaleMutationPhenotypeazoospermiabronchiectasisCFAP221primary ciliary dyskinesiaYoung's syndrome

Identifiers

PMID38960684
PMCPMC11867755

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Registered trials

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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.