Evidence map›Paper›PMID 35551640›Full record

ArticleItalian journal of pediatrics2022

PIK3CA-related overgrowth with an uncommon phenotype: case report.

Roberta Rotunno, Andrea Diociaiuti, Elisa Pisaneschi, Claudia Carnevale, Marialisa Dentici, May El Hachem

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

Article in Italian journal of pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
1.3field-weighted citation impact, top 21% 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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Review
  2. 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

6 authors at 1 institution in 1 country.

Roberta Rotunno *Dermatology Unit, Bambino Gesù Children's Hospital-IRCCS, P.zza St. Onofrio 4, 00165, Rome, Italy. roberta.rotunno@opbg.net.ORCID http://orcid.org/0000-0003-0722-9898
Andrea Diociaiuti *Dermatology Unit, Bambino Gesù Children's Hospital-IRCCS, P.zza St. Onofrio 4, 00165, Rome, Italy.
Elisa PisaneschiMedical Genetics Laboratory, "Bambino Gesù" Children's Hospital, IRCCS, Rome, Italy.
Claudia CarnevaleDermatology Unit, Bambino Gesù Children's Hospital-IRCCS, P.zza St. Onofrio 4, 00165, Rome, Italy.
Marialisa DenticiUnit of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
May El HachemDermatology Unit, Bambino Gesù Children's Hospital-IRCCS, P.zza St. Onofrio 4, 00165, Rome, Italy.
Bambino Gesù Children's Hospital · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMegalencephaly-capillary malformation syndrome is a rare multiple-malformation syndrome secondary to somatic activating mutations in the PI3K-AKT-MTOR pathway. This is included in a heterogeneous group of disorders, now defined "PIK3CA-related overgrowth spectrum". CASE PRESENTATION: We report a 22-months-old female presenting an uncommon phenotype associated with a genetic mosaicism in the PIK3CA gene, detected on DNA extracted from blood peripheral and tissue biopsy.

conclusionsNGS is the preferred method for molecular diagnosis of PROS on affected skin and overgrown tissues as primary samples. The wide phenotypic variability is based on the distribution of mosaicism, in fact the same mutation can cause different PIK3CA related disorders. Continuous understanding of the clinical spectrum and of molecular basis of PROS and their overlap will lead to improve diagnosis, management and new treatment strategies.

Indexed as

Abnormalities, MultipleMegalencephalyClass I Phosphatidylinositol 3-KinasesFemaleHumansMutationPhenotypePhosphatidylinositol 3-KinasesClass I Phosphatidylinositol 3-KinasesPhosphatidylinositol 3-KinasesPIK3CA protein, humanMegalencephaly-capillary malformationPhenotypePIK3CA

Identifiers

PMID35551640
PMCPMC9097398
OpenAlexW4280631171

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.