Evidence map›Paper›PMID 39609393›Full record

ArticleHuman genome variation2024

Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease.

Masaharu Moroto, Uda Daisuke, Tomoya Yodoi, Yoshihiro Nitta, Yohei Sugimoto, Tomohiro Chiyonobu, Hiroyuki Yamada, Kayo Ozaki, Taichi Nakatani, Norio Sakai

Abstract read
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In one paragraph

Article in Human genome variation, 2024. 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

10 authors.

Masaharu MorotoDepartment of Pediatrics, Fukuchiyama City Hospital, Kyoto, Japan. moroto@koto.kpu-m.ac.jp.ORCID http://orcid.org/0000-0002-8330-6456
Uda DaisukeDepartment of Pediatrics, Fukuchiyama City Hospital, Kyoto, Japan.
Tomoya YodoiDepartment of Pediatrics, Fukuchiyama City Hospital, Kyoto, Japan.
Yoshihiro NittaDepartment of Pediatrics, Fukuchiyama City Hospital, Kyoto, Japan.
Yohei SugimotoDepartment of Pediatrics, Kumihama Hospital, Kyoto, Japan.
Tomohiro ChiyonobuDepartment of Molecular Diagnostics and Therapeutics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.ORCID http://orcid.org/0000-0001-6678-060X
Hiroyuki YamadaDepartment of Pediatrics, Toyooka Public Hospital, Hyogo, Japan.
Kayo OzakiDepartment of Endocrinology and Metabolism, Hyogo Prefectural Kobe Children's Hospital, Hyogo, Japan.
Taichi NakataniDepartment of Pediatric Surgery, Hyogo Prefectural Kobe Children's Hospital, Hyogo, Japan.
Norio SakaiCenter for Promoting Treatment of Intractable Disease, ISEIKAI International General Hospital, Osaka, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic testing identified novel compound heterozygous missense variants in the HEXA gene (NM_00520.6: c.775A>C and NM_000520.6: c.508C>T) in a 16-month-old girl diagnosed with Tay‒Sachs disease. The patient gradually became unable to consume food orally. She suffered severe aspiration pneumonia and underwent gastrostomy and laryngotracheal separation at 2 years and 4 months of age. Despite an initially good prognosis, she died at 3 years of age.

Identifiers

PMID39609393
PMCPMC11604916

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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.