Evidence map›Paper›PMID 39133244›Full record

ArticleChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2024

Biobank for craniosynostosis and faciocraniosynostosis, rare pediatric congenital craniofacial disorders: a study protocol.

Lucia De Martino, Peppino Mirabelli, Lucia Quaglietta, Ursula Pia Ferrara, Stefania Picariello, Domenico Vincenzo De Gennaro, Marco Aiello, Giovanni Smaldone, Ferdinando Aliberti, Pietro Spennato and 3 more

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Article in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 1 paper.

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

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

13 authors.

Lucia De MartinoNeurooncology Unit, Santobono-Pausilipon Children's Hospital, AORN, Naples, Italy. l.demartino1@santobonopausilipon.it.ORCID 0000-0001-6232-5255
Peppino MirabelliClinical and Translational Research Unit, Santobono-Pausilipon Children's Hospital, AORN, Naples, Italy.
Lucia QuagliettaNeurooncology Unit, Santobono-Pausilipon Children's Hospital, AORN, Naples, Italy.
Ursula Pia FerraraNeurooncology Unit, Santobono-Pausilipon Children's Hospital, AORN, Naples, Italy.
Stefania PicarielloNeurooncology Unit, Santobono-Pausilipon Children's Hospital, AORN, Naples, Italy.
Domenico Vincenzo De GennaroPediatric Neurosurgery Unit, Santobono-Pausilipon Children's Hospital, AORN, Naples, Italy.
Marco AielloIRCCS SYNLAB SDN, Naples, Italy.
Giovanni SmaldoneIRCCS SYNLAB SDN, Naples, Italy.
Ferdinando AlibertiPediatric Neurosurgery Unit, Santobono-Pausilipon Children's Hospital, AORN, Naples, Italy.
Pietro SpennatoPediatric Neurosurgery Unit, Santobono-Pausilipon Children's Hospital, AORN, Naples, Italy.
Daniele De BrasiClinical Genetic Unit, Santobono-Pausilipon Children's Hospital, AORN, Naples, Italy.
Eugenio CovelliPediatric Neuroradiology Unit, Santobono-Pausilipon Children's Hospital, AORN, Naples, Italy.
Giuseppe CinalliPediatric Neurosurgery Unit, Santobono-Pausilipon Children's Hospital, AORN, Naples, Italy.

Funding

Project PNRR MR1-2022-12376512
6 · The paper itself

Abstract

purposeCraniosynostosis (CRS) is a rare congenital cranial malformation in which 1 or more cranial or facial sutures are fused in utero or rapidly fused in early infancy. The cranial sutures separate the skull bone plates and enable rapid growth of the skull in the first 2 years of life, in which growth is largely dictated by growth of the brain. CRS is a rare disease that occurs in 1 in 2100 to 1 in 2500 births and may be either nonsyndromic (also referred to as isolated) or syndromic. In syndromic CRS, other birth defects are present next to the CRS. The distinction between nonsyndromic and syndromic manifestations is made on the basis of dysmorphologic evaluation and genetic evaluation. Owing to advances in genetic diagnostics, nonsyndromic patients are increasingly recognized as syndromic patients. CRS treatment is almost entirely surgical and is sometimes paired with postoperative helmet therapy for maintenance. Corrective procedures are complex, long, and associated with the risk of numerous complications, including heavy blood loss and its sequelae. Although surgery may restore a normal appearance, even in nonsyndromic patients, patients may experience persistent deficits in intellectual ability and cognitive function. The European Commission (EC) has prioritized rare diseases in recent horizon European research programs; indeed, collections or even individual samples may be extremely valuable for research. METHODS AND

resultsHere, we present a study protocol in which the combined expertise of clinicians and researchers will be exploited to generate a biobank dedicated to CRS. The generation of the CRS biobank presented in this study will include the collection of different types of biological materials as well as advanced radiological images available to the scientific community.

conclusionThe activation of a CRS biobank will provide an opportunity to improve translational research on CRS and to share its benefits with the scientific community and patients and their families.

Indexed as

CraniosynostosesBiological Specimen BanksChildChild, PreschoolCraniofacial DysostosisFemaleHumansInfantMaleBiobankCongenital cranial malformationCraniosynostosisRare pediatric disease

Identifiers

PMID39133244
PMCPMC11538127

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Registered trials

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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.