Evidence map›Paper›PMID 39894464›Full record

ArticleClinical genetics2025

Quantification of Lateralized Overgrowth and Genotype-Driven Tissue Composition.

Andrea Gazzin, Giuseppe Reynolds, Damiano Allegro, Davide Rossi, Francesca Sciandra, Hirad Akberi Afkhami, Simona Cardaropoli, Marilidia Piglionica, Nicoletta Resta, Marco Di Stefano and 1 more

Abstract read
In one paragraph

Article in Clinical genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
–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

3 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
  3. Review
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

11 authors.

Andrea GazzinClinical Pediatrics Genetics Unit, Regina Margherita Children's Hospital, Turin, Italy.
Giuseppe ReynoldsDepartment of Public Health and Pediatric Sciences, University of Torino, Turin, Italy.ORCID 0000-0003-0447-2112
Damiano AllegroEndocrinologia, Diabetologia e Metabolismo U, Città della Salute e della Scienza, Turin, Italy.
Davide RossiDepartment of Public Health and Pediatric Sciences, University of Torino, Turin, Italy.
Francesca SciandraDepartment of Public Health and Pediatric Sciences, University of Torino, Turin, Italy.
Hirad Akberi AfkhamiDepartment of Public Health and Pediatric Sciences, University of Torino, Turin, Italy.
Simona CardaropoliDepartment of Public Health and Pediatric Sciences, University of Torino, Turin, Italy.ORCID 0000-0002-8927-8900
Marilidia PiglionicaDepartment of Biomedical Sciences and Human Oncology, University "Aldo Moro", Bari, Italy.
Nicoletta RestaDepartment of Biomedical Sciences and Human Oncology, University "Aldo Moro", Bari, Italy.ORCID 0000-0001-8640-5532
Marco Di StefanoEndocrinologia, Diabetologia e Metabolismo U, Città della Salute e della Scienza, Turin, Italy.
Alessandro MussaClinical Pediatrics Genetics Unit, Regina Margherita Children's Hospital, Turin, Italy.ORCID 0000-0003-2795-6013

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Lateralized overgrowth (LO) is characterized by excessive growth of one side of the body compared to the other. LO can present as isolated (ILO) or within syndromes, like Beckwith-Wiedemann Spectrum (BWSp) and PIK3CA-related overgrowth spectrum (PROS). Currently, the diagnosis of LO relies on clinical evaluation and lacks a standardized method. In this study, we evaluated total body dual-energy X-ray absorptiometry (TB-DXA) as a potential tool for standardizing LO assessment. Patients with LO underwent both clinical evaluation and TB-DXA. TB-DXA data, including total mass, mass of the three main tissue components (adipose, muscle, and bone), total mass discrepancy ratio, relative tissue composition, and discrepancy of relative tissue composition were calculated and compared with clinical findings. Differences between affected regions and the contralateral side were assessed. A total of 46 patients (61% PROS, 24% BWSp, 15% ILO) were included in this study. TB-DXA detected overgrowth regions aligned with clinical evaluation in 91% of cases and was able to identify localized overgrowth even when clinically overlooked. Additionally, TB-DXA revealed differences in tissue composition between affected and unaffected regions for symmetrical body areas, with these differences varying by diagnostic subgroup. Different patterns of tissue composition overgrowth were observed among different conditions, with PROS predominantly showing adipose tissue overgrowth, while BWSp/ILO mainly osteo-muscular overgrowth. TB-DXA is an accurate, safe, and reproducible tool in the clinical setting providing an objective method for identifying and quantifying LO. It offers valuable guidance for clinicians in the diagnosis and management of LO.

Indexed as

Body CompositionClass I Phosphatidylinositol 3-KinasesGrowth DisordersAbsorptiometry, PhotonAdipose TissueAdolescentChildChild, PreschoolFemaleGenotypeHumansInfantMalePhenotypeClass I Phosphatidylinositol 3-KinasesPIK3CA protein, humanBeckwith‐Wiedemann spectrumdual‐energy X‐ray absorptiometryisolated lateralized overgrowthlateralized overgrowthPIK3CA‐related overgrowth spectrumPROS

Identifiers

PMID39894464
PMCPMC12136863

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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.