Evidence map›Paper›PMID 36359527›Full record

ArticleDiagnostics (Basel, Switzerland)2022

A New

Caterina Micolonghi, Maria Piane, Aldo Germani, Soha Sadeghi, Fabio Libi, Camilla Savio, Marco Fabiani, Rita Mancini, Danilo Ranieri, Antonio Pizzuti and 5 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Diagnostics (Basel, Switzerland), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.6field-weighted citation impact, top 33% 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

3 citing papers in PubMed, 4 citations in OpenAlex.

  1. Clinical and Molecular Characterization ofInternational journal of molecular sciences · 2024
    Article
  2. Review
  3. 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

15 authors at 4 institutions in 1 country.

Caterina MicolonghiDepartment of Experimental Medicine, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00161 Rome, Italy.ORCID 0000-0002-4275-0032
Maria PianeDepartment of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.ORCID 0000-0001-8569-247X
Aldo GermaniDepartment of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.ORCID 0000-0001-5108-3924
Soha SadeghiDepartment of Experimental Medicine, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00161 Rome, Italy.ORCID 0000-0002-1058-3743
Fabio LibiS. Andrea University Hospital, 00189 Rome, Italy.
Camilla SavioS. Andrea University Hospital, 00189 Rome, Italy.
Marco FabianiDepartment of Experimental Medicine, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00161 Rome, Italy.ORCID 0000-0002-8763-0114
Rita ManciniDepartment of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.
Danilo RanieriDepartment of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.ORCID 0000-0001-5039-0834
Antonio PizzutiDepartment of Experimental Medicine, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00161 Rome, Italy.
Vito Domenico CorletoS. Andrea University Hospital, 00189 Rome, Italy.
Pasquale ParisiS. Andrea University Hospital, 00189 Rome, Italy.ORCID 0000-0001-9042-8120
Vincenzo ViscoDepartment of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.ORCID 0000-0001-5067-3121
Giovanni Di NardoS. Andrea University Hospital, 00189 Rome, Italy.ORCID 0000-0002-9026-7758
Simona PetrucciDepartment of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.
CTO Andrea Alesini · ITSapienza University of Rome · ITCasa Sollievo della Sofferenza · ITALTA (Italy) · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Juvenile polyposis syndrome (JPS) is an autosomal dominant disorder characterized by hyperplastic polyps in the upper and lower gastrointestinal (GI) tract with a high risk of developing GI cancers. We have described a three-generation Italian family with all the spectrum of SMAD4 phenotype. A multigene panel test was performed on the genomic DNA of the proband by next-generation sequencing, including genes related to hereditary GI tumor syndromes. Molecular analysis revealed the presence of the c.1140-2A>G substitution in the SMAD4 gene, a novel splice variant that has never been described before. Our family is remarkable in that it illustrates the variable expressivity of the SMAD4 phenotype within the same family. The possibility of phenotype variability should also be considered within family members carrying the same mutation. In JPS, a timely genetic diagnosis allows clinicians to better manage patients and to provide early surveillance and intervention for their asymptomatic mutated relatives in the early decades of life.

Indexed as

juvenile polyposis syndromeSMAD4splice site variant

Identifiers

PMID36359527
PMCPMC9689379
OpenAlexW4308198579

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.