Evidence map›Paper›PMID 37101309›Full record

ArticleJournal of medical case reports2023

Alagille-like syndrome with surprising karyotype: a case report.

S Amimoto, M Ishii, K Tanaka, S Araki, M Kuwamura, S Suga, E Kondo, E Shibata, K Kusuhara, K Yoshino

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PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of medical case reports, 2023. 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, top 88% 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

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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, 0 citations in OpenAlex.

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 at 2 institutions in 1 country.

S AmimotoDepartment of Obstetrics and Gynecology, University of Occupational and Environmental Health, Kitakyushu, Japan.ORCID http://orcid.org/0000-0001-8672-3995
M IshiiDepartment of Pediatrics, Kitakyushu General Hospital, 1-1 Higashijonochou, Kokurakita-Ku, Kitakyushu-City, 802-8517, Japan. masahiro@med.uoeh-u.ac.jp.
K TanakaDepartment of Pediatrics, University of Occupational and Environmental Health, Kitakyushu, Japan.
S ArakiDepartment of Pediatrics, University of Occupational and Environmental Health, Kitakyushu, Japan.
M KuwamuraDepartment of Pediatrics, University of Occupational and Environmental Health, Kitakyushu, Japan.
S SugaDepartment of Pediatrics, University of Occupational and Environmental Health, Kitakyushu, Japan.
E KondoDepartment of Obstetrics and Gynecology, University of Occupational and Environmental Health, Kitakyushu, Japan.
E ShibataDepartment of Obstetrics and Gynecology, University of Occupational and Environmental Health, Kitakyushu, Japan.
K KusuharaDepartment of Pediatrics, University of Occupational and Environmental Health, Kitakyushu, Japan.
K YoshinoDepartment of Obstetrics and Gynecology, University of Occupational and Environmental Health, Kitakyushu, Japan.
University of Occupational and Environmental Health Japan · JPKokura Memorial Hospital · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundChromosome 5p partial monosomy (5p-syndrome) and chromosome 6p partial trisomy are chromosomal abnormalities that result in a variety of symptoms, but liver dysfunction is not normally one of them. Alagille syndrome (OMIM #118450) is a multisystem disorder that is defined clinically by hepatic bile duct paucity and cholestasis, in association with cardiac, skeletal, and ophthalmologic manifestations, and characteristic facial features. Alagille syndrome is caused by mutations in JAG1 on chromosome 20 or NOTCH2 on chromosome 1. Here, we report a preterm infant with karyotype 46,XX,der(5)t(5,6)(p15.2;p22.3) and hepatic dysfunction, who was diagnosed as having incomplete Alagille syndrome. CASE PRESENTATION: The Japanese infant was diagnosed based on the cardiac abnormalities, ocular abnormalities, characteristic facial features, and liver pathological findings. Analysis of the JAG1 and NOTCH sequences failed to detect any mutations in these genes.

conclusionsThese results suggest that, besides the genes that are known to be responsible for Alagille syndrome, other genetic mutations also may cause Alagille syndrome.

Indexed as

Alagille SyndromeHumansInfantInfant, NewbornInfant, PrematureJagged-1 ProteinKaryotypeJagged-1 Protein5p-syndrome6p trisomyAlagille syndromeCase reportHepatic disorder

Identifiers

PMID37101309
PMCPMC10131304
OpenAlexW4367051971

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