Evidence map›Paper›PMID 37296768›Full record

ArticleDiagnostics (Basel, Switzerland)2023

Patryk Lipiński, Elżbieta Ciara, Dorota Jurkiewicz, Magda Mekrouda, Joanna Cielecka-Kuszyk, Elżbieta Jurkiewicz, Rafał Płoski, Joanna Pawłowska, Irena Jankowska

Open access · goldAbstract read
In one paragraph

Article in Diagnostics (Basel, Switzerland), 2023. 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
1.3field-weighted citation impact, top 18% 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

1 citing paper in PubMed, 4 citations in OpenAlex.

  1. Bronchiectasis in a child with a homozygousJournal of Taibah University Medical Sciences · 2026
    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

9 authors at 2 institutions in 1 country.

Patryk LipińskiDepartment of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.ORCID 0000-0002-1849-8375
Elżbieta CiaraDepartment of Medical Genetics, The Children's Memorial Health Institute, 04-736 Warsaw, Poland.ORCID 0000-0002-1065-7968
Dorota JurkiewiczDepartment of Medical Genetics, The Children's Memorial Health Institute, 04-736 Warsaw, Poland.
Magda MekroudaDepartment of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Joanna Cielecka-KuszykDepartment of Pathology, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Elżbieta JurkiewiczDepartment of Diagnostic Imaging, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.ORCID 0000-0003-4505-8815
Rafał PłoskiDepartment of Medical Genetics, Medical University of Warsaw, 02-091 Warsaw, Poland.ORCID 0000-0001-6286-5526
Joanna PawłowskaDepartment of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Irena JankowskaDepartment of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Children's Memorial Health Institute · PLMedical University of Warsaw · PL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionThe increasing usage of NGS technology has enabled the discovery of new causal genes in ciliopathies, including the MATERIAL AND

methodsA retrospective chart review of the clinical, biochemical, pathological (liver histology) and molecular features of the study group was performed. The database PubMed (MEDLINE) was searched for relevant studies.

resultsAll the patients presented with cholestatic jaundice and elevated GGT; the mean age was 2 months. The initial liver biopsy was performed in four children at a mean age of 3 months (age range: 2-5 months). In all of them, features of cholestasis, portal fibrosis and mild portal inflammation were observed; in three of them ductular proliferation was observed. One patient had undergone liver transplantation (LTx) at 8 years of age. At hepatectomy, a biliary-pattern cirrhosis was observed. Only one patient presented with features of renal disease. Whole exome sequencing was performed in all patients at the last follow-up visit (mean age 10 years). Three different variants (one novel) in the

conclusionsOur findings expand the molecular spectrum of pathogenic

Indexed as

cholestasisciliopathyDCDC2liver transplantationnext generation sequencing

Identifiers

PMID37296768
PMCPMC10252754
OpenAlexW4378902091

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.