Evidence map›Paper›PMID 38790247›Full record

SynthesisGenes2024

Can Hemorrhagic Stroke Genetics Help Forensic Diagnosis in Pediatric Age (<5 Years Old)?

Biancamaria Treves, Elena Sonnini, Raffaele La Russa, Fabio Del Duca, Alessandro Ghamlouch, Alessandra De Matteis, Claudia Trignano, Juan Antonio Marchal, Esmeralda Carrillo, Gabriele Napoletano and 1 more

Abstract readSystematic Review
In one paragraph

Synthesis in Genes, 2024. 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. 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

11 authors.

Biancamaria TrevesDepartment of Anatomical, Histological, Forensic and Orthopaedic Sciences, Sapienza University of Rome, 00161 Rome, Italy.
Elena SonniniDipartimento Scienze della Vita e Sanità Pubblica, Medicina Genomica, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
Raffaele La RussaDepartment of Clinical Medicine, Public Health, Life Sciences, and Environmental Sciences, University of L'Aquila, 67100 L'Aquila, Italy.ORCID 0000-0003-3433-7122
Fabio Del DucaDepartment of Anatomical, Histological, Forensic and Orthopaedic Sciences, Sapienza University of Rome, 00161 Rome, Italy.ORCID 0000-0002-6934-9791
Alessandro GhamlouchDepartment of Anatomical, Histological, Forensic and Orthopaedic Sciences, Sapienza University of Rome, 00161 Rome, Italy.
Alessandra De MatteisDepartment of Anatomical, Histological, Forensic and Orthopaedic Sciences, Sapienza University of Rome, 00161 Rome, Italy.
Claudia TrignanoDepartment of Biomedical Sciences, University of Sassari, Viale San Pietro 43c, 07100 Sassari, Italy.ORCID 0000-0002-8846-0700
Juan Antonio MarchalCentre for Biomedical Research (CIBM), Biopathology and Regenerative Medicine Institute (IBIMER), University of Granada, 18016 Granada, Spain.
Esmeralda CarrilloCentre for Biomedical Research (CIBM), Biopathology and Regenerative Medicine Institute (IBIMER), University of Granada, 18016 Granada, Spain.ORCID 0000-0002-5551-4389
Gabriele NapoletanoDepartment of Anatomical, Histological, Forensic and Orthopaedic Sciences, Sapienza University of Rome, 00161 Rome, Italy.ORCID 0000-0002-5248-6896
Aniello MaieseDepartment of Surgical Pathology, Medical, Molecular and Critical Area, Institute of Legal Medicine, University of Pisa, 56126 Pisa, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

When stroke occurs in pediatric age, it might be mistakenly interpreted as non-accidental head injury (NAHI). In these situations, a multidisciplinary approach is fundamental, including a thorough personal and familial history, along with accurate physical examination and additional investigations. Especially when the clinical picture is uncertain, it is important to remember that certain genetic conditions can cause bleeding inside the brain, which may resemble NAHI. Pediatric strokes occurring around the time of birth can also be an initial sign of undiagnosed genetic disorders. Hence, it is crucial to conduct a thorough evaluation, including genetic testing, when there is a suspicion of NAHI but the symptoms are unclear. In these cases, a characteristic set of symptoms is often observed. This study aims to summarize some of the genetic causes of hemorrhagic stroke in the pediatric population, thus mimicking non-accidental head injury, considering elements that can be useful in characterizing pathologies. A systematic review of genetic disorders that may cause ICH in children was carried out according to the Preferred Reporting Item for Systematic Review (PRISMA) standards. We selected 10 articles regarding the main genetic diseases in stroke; we additionally selected 11 papers concerning patients with pediatric stroke and genetic diseases, or studies outlining the characteristics of stroke in these patients. The disorders we identified were Moyamoya disease (MMD),

Indexed as

Craniocerebral TraumaGenetic TestingHemorrhagic StrokeChild, PreschoolDiagnosis, DifferentialHumansInfantInfant, Newbornabusive head trauma (AHT)childforensic sciencegeneticintracranial hemorrhagemonogenicnon-accidental head injury (NAHI)non-accidental trauma (NAT)stroke

Identifiers

PMID38790247
PMCPMC11120992

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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.