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

IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY
Child's Nervous System Pub Date : 2024-11-01 Epub Date: 2024-08-12 DOI:10.1007/s00381-024-06555-w
Lucia De Martino, Peppino Mirabelli, Lucia Quaglietta, Ursula Pia Ferrara, Stefania Picariello, Domenico Vincenzo De Gennaro, Marco Aiello, Giovanni Smaldone, Ferdinando Aliberti, Pietro Spennato, Daniele De Brasi, Eugenio Covelli, Giuseppe Cinalli
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引用次数: 0

Abstract

Purpose: Craniosynostosis (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 results: Here, 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.

Conclusion: The 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.

Abstract Image

罕见小儿先天性颅面疾病--颅骨畸形症和面颅骨畸形症生物数据库:研究方案。
目的:颅骨连接畸形(Craniosynostosis,CRS)是一种罕见的先天性颅骨畸形,患者的一条或多条颅缝或面缝在子宫内融合,或在婴儿早期迅速融合。颅缝将颅骨骨板分开,使头骨在出生后的头 2 年迅速生长,而头骨的生长主要由大脑的生长决定。CRS 是一种罕见的疾病,每 2100 到 2500 个新生儿中就会有 1 例患病,可能是非综合征(也称为孤立性),也可能是综合征。在综合征型 CRS 中,除 CRS 外还存在其他出生缺陷。区分非综合征和综合征表现的依据是畸形评估和遗传评估。由于基因诊断技术的进步,非综合征患者越来越多地被认为是综合征患者。CRS 的治疗几乎全部采用外科手术,有时还搭配术后头盔疗法进行维持。矫正手术复杂、时间长,并伴有大量并发症的风险,包括大量失血及其后遗症。虽然手术可以恢复正常外观,但即使是非综合征患者,也可能出现持续的智力和认知功能障碍。欧盟委员会(European Commission,EC)在最近的欧洲地平线研究计划中将罕见病列为优先研究对象;事实上,采集的样本甚至个体样本对研究都极具价值:在此,我们将介绍一项研究方案,其中将综合利用临床医生和研究人员的专业知识,建立一个专门用于 CRS 的生物库。本研究中介绍的 CRS 生物库的建立将包括收集不同类型的生物材料以及可供科学界使用的先进放射图像:启动 CRS 生物库将为改善 CRS 转化研究提供机会,并与科学界、患者及其家属分享研究成果。
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来源期刊
Child's Nervous System
Child's Nervous System 医学-临床神经学
CiteScore
3.00
自引率
7.10%
发文量
322
审稿时长
3 months
期刊介绍: The journal has been expanded to encompass all aspects of pediatric neurosciences concerning the developmental and acquired abnormalities of the nervous system and its coverings, functional disorders, epilepsy, spasticity, basic and clinical neuro-oncology, rehabilitation and trauma. Global pediatric neurosurgery is an additional field of interest that will be considered for publication in the journal.
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