Evidence map›Paper›PMID 40099313›Full record

ArticleCureus2025

Diagnosis and Genetic Counseling Before and After the Birth of Children With Joubert Syndrome and Beckwith-Wiedemann Syndrome.

Yuri Hasegawa, Shoko Miura, Masayo Kagami, Sumito Dateki, Kiyonori Miura

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PubMed Full text at PMC Publisher
In one paragraph

Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

5 authors.

Yuri HasegawaDepartment of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, JPN.
Shoko MiuraDepartment of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, JPN.
Masayo KagamiDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, JPN.
Sumito DatekiDepartment of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, JPN.
Kiyonori MiuraDepartment of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, JPN.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The patient was a second child prenatally diagnosed with Joubert syndrome (JS) by ultrasound examination and family history of a first child with JS. After birth, the patient was also diagnosed with Beckwith-Wiedemann syndrome. Here, we report this case as a lesson on the importance of focusing on diagnosing the first hereditary disease and also considering the possibility of the development of a second genetic disease when providing treatment. We were able to confirm the diagnosis of both syndromes by detailed genetic testing after birth, allowing genetic counseling for future treatment and the next pregnancy.

Indexed as

beckwith-wiedemann syndromechromosomal abnormalitiesgenetic diagnosisjoubert syndrome (js)prenatal diagnosis

Identifiers

PMID40099313
PMCPMC11911710

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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.