Wu Xionghui, Huang Min, Huang Weiqing, Zhao Sijun, Xie Jiang, Liu Guangliang, Chang Shuting
Department of Otorhinolaryngology Head and Neck Surgery, Hunan Children's Hospital, Changsha, Hunan, China.
Department of Neonatology, Hunan Children's Hospital, Changsha, Hunan, China.
Front Genet. 2023 Jan 25;14:1113095. doi: 10.3389/fgene.2023.1113095. eCollection 2023.
Syndromic deafness caused by PTPN11 gene mutation has gradually come into the public's view. In the past, many people did not understand its application mechanism and role and only focused on non-syndromic deafness, so the research on syndromic deafness is not in-depth and there is a large degree of lack of research in this area. In order to let the public know more about the diagnosis and gene function of deafness caused by PTPN11 gene mutation syndrome, this paper used deep learning technology to study the diagnosis and gene function of deafness caused by syndrome with the concept of intelligent medical treatment, and finally drew a feasible conclusion. This paper provided a theoretical and practical basis for the diagnosis of deafness caused by PTPN11 gene mutation syndrome and the study of gene function. This paper made a retrospective analysis of the clinical data of 85 deaf children who visited Hunan Children's Hospital,P.R. China from January 2020 to December 2021. The conclusion were as follows: Children aged 1-6 years old had multiple syndrome deafness, while children under 1 year old and children aged 6-12 years old had relatively low probability of complex deafness; girls were not easy to have comprehensive deafness, but there was no specific basis to prove that the occurrence of comprehensive deafness was necessarily related to gender; the hearing loss of patients with Noonan Syndrome was mainly characterized by moderate and severe damage and abnormal inner ear and auditory nerve; most of the mutation genes in children were located in Exon1 and Exon3, with a total probability of 57.65%. In the course of the experiment, it was found that deep learning was effective in the diagnosis of deafness with PTPN11 gene mutation syndrome. This technology could be applied to medical diagnosis to facilitate the diagnosis and treatment of more patients with deafness with syndrome. Intelligent medical treatment was also becoming a hot topic nowadays. By using this concept to analyze and study the pathological characteristics of deafness caused by PTPN11 gene mutation syndrome, it not only promoted patients to find diseases in time, but also helped doctors to diagnose and treat such diseases, which was of great significance to patients and doctors. The study of PTPN11 gene mutation syndrome deafness was also of great significance in genetics. The analysis of its genes not only enriched the gene pool, but also provided reference for future research.
由PTPN11基因突变引起的综合征性耳聋逐渐进入公众视野。过去，许多人不了解其应用机制和作用，仅关注非综合征性耳聋，因此对综合征性耳聋的研究不够深入，该领域存在很大程度的研究空白。为了让公众更多地了解PTPN11基因突变综合征所致耳聋的诊断及基因功能，本文运用深度学习技术，以智能医疗理念研究综合征性耳聋的诊断及基因功能，最终得出可行结论。本文为PTPN11基因突变综合征所致耳聋的诊断及基因功能研究提供了理论和实践依据。本文对2020年1月至2021年12月期间到中国湖南省儿童医院就诊的85名耳聋儿童的临床资料进行回顾性分析。结论如下：1至6岁儿童多为综合征性耳聋，而1岁以下儿童和6至12岁儿童发生复杂性耳聋的概率相对较低；女孩不易发生综合性耳聋，但没有具体依据证明综合性耳聋的发生必然与性别有关；努南综合征患者的听力损失主要表现为中重度损害以及内耳和听神经异常；儿童中的突变基因大多位于外显子1和外显子3，总概率为57.65%。在实验过程中发现，深度学习在PTPN11基因突变综合征耳聋的诊断中是有效的。该技术可应用于医学诊断，以方便更多综合征性耳聋患者的诊断和治疗。智能医疗如今也正成为一个热门话题。通过运用这一理念分析和研究PTPN11基因突变综合征所致耳聋的病理特征，不仅能促进患者及时发现疾病，还能帮助医生诊断和治疗此类疾病，这对患者和医生都具有重要意义。对PTPN11基因突变综合征耳聋的研究在遗传学方面也具有重要意义。对其基因的分析不仅丰富了基因库，也为未来的研究提供了参考。
