Genetic Testing as a Source of Information Driving Diagnosis and Therapeutic Plan in a Multidisciplinary Case.

IF 3.8 3区 医学 Q2 ENGINEERING, BIOMEDICAL Bioengineering Pub Date : 2024-10-14 DOI:10.3390/bioengineering11101023
Cristina Grippaudo, Concetta Cafiero, Nicola Maria Grande, Leonardo Dassatti, Raffaele Palmirotta, Raffaella Castagnola, Gaetano Isola
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Abstract

In many cases, the etiopathogenesis of oral cavity diseases depends on the presence of variants in some genes. Being able to identify these variants defines the possibilities and limits of therapies. This multidisciplinary case describes several pathologies of the oral cavity in a young patient affected by type 1 diabetes. The patient presented with an impacted palatal canine. Further investigation revealed cervical root resorption of the upper right central incisor. Genetic testing was performed for interleukin, VDR receptor genes, and the evaluation of periodontopathogenic bacteria. The mutational analysis carried out for the VDR polymorphisms and the IL1A, IL1B, IL6, and IL10 polymorphisms showed the presence of pathogenetic variants. The results for bacterial load showed the presence of periodontal pathogenes. The first intervention was the intentional replantation of the incisor. The second intervention was the orthodontic recovery of the impacted canine, using light forces and a hybrid anchorage with a miniscrew. At the end of orthodontic treatment, a crack was found in the upper left first premolar, which was extracted. Throughout treatment, non-invasive periodontal interventions were performed periodically to control periodontal inflammation. This case is an example of the integration of genetic analyses into the multidisciplinary diagnostic pathway.

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基因检测作为多学科病例诊断和治疗计划的信息来源。
在许多情况下,口腔疾病的发病机理取决于某些基因变异的存在。能否识别这些变异基因决定了治疗的可能性和局限性。这个多学科病例描述了一名受 1 型糖尿病影响的年轻患者口腔的几种病变。患者出现腭犬齿撞击。进一步检查发现,右上中切牙的牙根颈吸收。对白细胞介素、VDR 受体基因进行了基因检测,并对牙周致病菌进行了评估。对 VDR 多态性和 IL1A、IL1B、IL6 和 IL10 多态性进行的突变分析表明存在致病变体。细菌负荷结果显示存在牙周病原体。第一个干预措施是有意重新种植门牙。第二项干预措施是使用轻力和带微型螺钉的混合固定装置对受撞击的犬齿进行正畸修复。正畸治疗结束时,发现左上第一前磨牙有裂缝,于是将其拔除。在整个治疗过程中,定期进行非侵入性牙周干预,以控制牙周炎症。该病例是将基因分析纳入多学科诊断途径的一个范例。
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来源期刊
Bioengineering
Bioengineering Chemical Engineering-Bioengineering
CiteScore
4.00
自引率
8.70%
发文量
661
期刊介绍: Aims Bioengineering (ISSN 2306-5354) provides an advanced forum for the science and technology of bioengineering. It publishes original research papers, comprehensive reviews, communications and case reports. Our aim is to encourage scientists to publish their experimental and theoretical results in as much detail as possible. All aspects of bioengineering are welcomed from theoretical concepts to education and applications. There is no restriction on the length of the papers. The full experimental details must be provided so that the results can be reproduced. There are, in addition, four key features of this Journal: ● We are introducing a new concept in scientific and technical publications “The Translational Case Report in Bioengineering”. It is a descriptive explanatory analysis of a transformative or translational event. Understanding that the goal of bioengineering scholarship is to advance towards a transformative or clinical solution to an identified transformative/clinical need, the translational case report is used to explore causation in order to find underlying principles that may guide other similar transformative/translational undertakings. ● Manuscripts regarding research proposals and research ideas will be particularly welcomed. ● Electronic files and software regarding the full details of the calculation and experimental procedure, if unable to be published in a normal way, can be deposited as supplementary material. ● We also accept manuscripts communicating to a broader audience with regard to research projects financed with public funds. Scope ● Bionics and biological cybernetics: implantology; bio–abio interfaces ● Bioelectronics: wearable electronics; implantable electronics; “more than Moore” electronics; bioelectronics devices ● Bioprocess and biosystems engineering and applications: bioprocess design; biocatalysis; bioseparation and bioreactors; bioinformatics; bioenergy; etc. ● Biomolecular, cellular and tissue engineering and applications: tissue engineering; chromosome engineering; embryo engineering; cellular, molecular and synthetic biology; metabolic engineering; bio-nanotechnology; micro/nano technologies; genetic engineering; transgenic technology ● Biomedical engineering and applications: biomechatronics; biomedical electronics; biomechanics; biomaterials; biomimetics; biomedical diagnostics; biomedical therapy; biomedical devices; sensors and circuits; biomedical imaging and medical information systems; implants and regenerative medicine; neurotechnology; clinical engineering; rehabilitation engineering ● Biochemical engineering and applications: metabolic pathway engineering; modeling and simulation ● Translational bioengineering
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