Evidence map›Paper›PMID 36615117›Full record

ArticleJournal of clinical medicine2022

Novel

Mayako Mori, Takashi Kido, Noriho Sakamoto, Mutsumi Ozasa, Kumiko Kido, Yasuko Noguchi, Takatomo Tokito, Daisuke Okuno, Hirokazu Yura, Atsuko Hara and 7 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Journal of clinical medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.1field-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

5 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. Article
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  4. Article
  5. 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

17 authors at 3 institutions in 1 country.

Mayako MoriDepartment of Respiratory Medicine, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki 852-8501, Japan.
Takashi KidoDepartment of Respiratory Medicine, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki 852-8501, Japan.ORCID 0000-0001-8338-0608
Noriho SakamotoDepartment of Respiratory Medicine, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki 852-8501, Japan.ORCID 0000-0002-7577-476X
Mutsumi OzasaDepartment of Respiratory Medicine, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki 852-8501, Japan.
Kumiko KidoDepartment of Respiratory Medicine, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki 852-8501, Japan.
Yasuko NoguchiDepartment of Respiratory Medicine, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki 852-8501, Japan.
Takatomo TokitoDepartment of Respiratory Medicine, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki 852-8501, Japan.
Daisuke OkunoDepartment of Respiratory Medicine, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki 852-8501, Japan.
Hirokazu YuraDepartment of Respiratory Medicine, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki 852-8501, Japan.
Atsuko HaraDepartment of Respiratory Medicine, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki 852-8501, Japan.
Hiroshi IshimotoDepartment of Respiratory Medicine, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki 852-8501, Japan.
Takashi SuematsuCentral Electron Microscope Laboratory, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki 852-8523, Japan.
Yasushi ObaseDepartment of Respiratory Medicine, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki 852-8501, Japan.ORCID 0000-0001-8838-7403
Yoshimasa TanakaCenter for Medical Innovation, Nagasaki University, Nagasaki 852-8521, Japan.ORCID 0000-0002-5024-0614
Koichi IzumikawaDepartment of Infection Control and Education Center, Nagasaki University Hospital, Nagasaki 852-8501, Japan.
Kazuhiko TakeuchiDepartment of Otorhinolaryngology-Head and Neck Surgery, Graduate School of Medicine, Mie University, Tsu 514-8507, Japan.ORCID 0000-0001-6855-6425
Hiroshi MukaeDepartment of Respiratory Medicine, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki 852-8501, Japan.
Nagasaki University · JPMie University · JPNagasaki University Hospital · JP

Funding

JSPS Grants-in-Aid for Scientific Research (C) 16K11210 and 19K09886Non-Profit Organization aimed at supporting community medicine research in Nagasaki NA
6 · The paper itself

Abstract

Primary ciliary dyskinesia (PCD) is a genetic and congenital disease associated with an abnormal ciliary ultrastructure and function and is estimated to affect 1 in 15,000-20,000 individuals. A PCD diagnosis can be achieved by genotyping. Here, we performed whole-exome analysis for the diagnosis of PCD and described the detailed clinical characteristics of the case. A 39-year-old Japanese woman with sinusitis and bronchiectasis without situs inversus had had upper and lower respiratory symptoms since childhood and had received long-term macrolide therapy without an accurate diagnosis. A moderate deterioration of cilia function was observed by high-speed video microscopy analysis; additionally, the number of cells with moving cilia was fewer than that in patients without PCD. Electron microscopy revealed no apparent structural abnormalities. We performed whole-exome analysis and identified novel biallelic variants of

Indexed as

ciliary beat amplitudeciliary beat frequencyhigh-speed video microscopy analysisprimary ciliary dyskinesiaSPEF2

Identifiers

PMID36615117
PMCPMC9821625
OpenAlexW4313392655

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.