Ear Diseases

耳朵疾病
  • 文章类型: Journal Article
    鼓膜(TM)和中耳(ME)内的病变可导致听力损失。听力诊所中用于诊断和管理的成像工具仅限于使用经典耳镜进行视觉检查。耳镜视图仅限于TM的表面,特别是在TM不透明的患病耳朵中。集成光学相干断层扫描(OCT)耳镜可以提供TM和ME空间内部的图像以及耳镜图像。这使临床医生能够将标准耳镜视图与OCT相关联,然后使用新信息来提高诊断准确性和管理。
    我们旨在开发一种OCT耳镜,该耳镜可轻松用于听力诊所,并在听力诊所演示该系统,识别在标准耳镜视图中不明显的各种病理的相关图像特征。
    我们开发了一种便携式OCT耳镜装置,具有改进的视野和形状因子,可由临床医生单独操作,使用集成脚踏板控制图像采集。该设备用于在听力诊所对患者进行成像。
    将成像系统的视野提高到7.4毫米的直径,横向和轴向分辨率分别为38μm和33.4μm,分别。我们开发了算法,以在球面极坐标中收集后,在笛卡尔坐标中对图像进行重新采样,并校正图像像差。我们在USCKeck医院的听力诊所对100多名患者进行了成像。这里,我们确定了OCT图像中一些明显的病理特征,并重点说明了OCT图像提供了传统耳镜成像无法获得的临床相关信息的病例.
    开发的OCT耳镜可以很容易地适应听力临床工作流程,并为诊断和管理TM和ME疾病提供新的相关信息。
    UNASSIGNED: Pathologies within the tympanic membrane (TM) and middle ear (ME) can lead to hearing loss. Imaging tools available in the hearing clinic for diagnosis and management are limited to visual inspection using the classic otoscope. The otoscopic view is limited to the surface of the TM, especially in diseased ears where the TM is opaque. An integrated optical coherence tomography (OCT) otoscope can provide images of the interior of the TM and ME space as well as an otoscope image. This enables the clinicians to correlate the standard otoscopic view with OCT and then use the new information to improve the diagnostic accuracy and management.
    UNASSIGNED: We aim to develop an OCT otoscope that can easily be used in the hearing clinic and demonstrate the system in the hearing clinic, identifying relevant image features of various pathologies not apparent in the standard otoscopic view.
    UNASSIGNED: We developed a portable OCT otoscope device featuring an improved field of view and form-factor that can be operated solely by the clinician using an integrated foot pedal to control image acquisition. The device was used to image patients at a hearing clinic.
    UNASSIGNED: The field of view of the imaging system was improved to a 7.4 mm diameter, with lateral and axial resolutions of 38    μ m and 33.4    μ m , respectively. We developed algorithms to resample the images in Cartesian coordinates after collection in spherical polar coordinates and correct the image aberration. We imaged over 100 patients in the hearing clinic at USC Keck Hospital. Here, we identify some of the pathological features evident in the OCT images and highlight cases in which the OCT image provided clinically relevant information that was not available from traditional otoscopic imaging.
    UNASSIGNED: The developed OCT otoscope can readily fit into the hearing clinic workflow and provide new relevant information for diagnosing and managing TM and ME disease.
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  • 文章类型: Journal Article
    背景:耳科学问卷阿姆斯特丹(OQUA)旨在评估多种耳部不适及其对患者日常生活的影响。该问卷的当前临床使用低于潜在利用率。
    目的:确定耳鼻喉科外科医生和患者认为使用OQUA的障碍和促成因素,并为实施策略提供建议。
    方法:使用焦点小组和对一家三级转诊医院和两家地区医院的耳鼻喉科专业人员(n=15)和患者(n=25)进行访谈,进行前瞻性和定性分析。通过使用能力-机会-动机-行为模型和理论域框架来识别和分类障碍和推动者。将相应地提出实施战略的建议。
    结果:ENT专业人员的障碍包括缺乏使用OQUA的知识和技能,在咨询过程中,技术支持不足和感知的时间限制,对OQUA结果的临床相关性的不确定性和缺乏反馈。促进者包括OQUA对专业人士的有益后果,组织和科学。患者的障碍包括缺乏关于OQUA的客观和有用性的知识,感知负担,填写问卷有困难,咨询期间反馈不足。患者推动者包括关于OQUA对患者有益后果的信念,医疗保健和社会。建议的干预措施涉及教育,培训,环境重组和激励。
    结论:根据调查结果,我们提出实施战略应侧重于目标的教育和培训,OQUA的结果和相关性,关于优化使用OQUA的环境重组,并通过对OQUA对患者的有价值结果的反馈来激励,专业和医疗保健。需要进一步的研究来确定实施策略的可行性。
    BACKGROUND: The Otology Questionnaire Amsterdam (OQUA) is developed to evaluate multiple ear complaints and their impact on patients\' daily lives. The current clinical use of this questionnaire is below the potential utilization.
    OBJECTIVE: To identify the barriers and enablers of using the OQUA as perceived by ENT surgeons and patients and provide recommendations for an implementation strategy.
    METHODS: Prospective and qualitative analysis was performed using focus groups and interviews with ENT professionals (n = 15) and patients (n = 25) with ear complaints of one tertiary referral hospital and two regional hospitals. Barriers and enablers were identified and classified by using the Capability-Opportunity-Motivation-Behavior model and the Theoretical Domains Framework. Suggestions for an implementation strategy will be made accordingly.
    RESULTS: ENT professionals\' barriers included lack of knowledge and skills to use the OQUA, inadequate technological support and perceived time constraints during consultation, uncertainty about the clinical relevance and lack of feedback on the outcomes of the OQUA. Enablers included beneficial consequences of the OQUA for the professional, organization and science. Patients\' barriers included lack of knowledge about the objective and usefulness of the OQUA, perceived burden, difficulties in completing the questionnaire and insufficient feedback during consultation. Patient enablers included beliefs about beneficial consequences of the OQUA for the patient, health care and society. Suggested interventions involved education, training, environmental restructuring and incentivisation.
    CONCLUSIONS: Based on the findings, we propose an implementation strategy should focus on education and training about the objective, outcomes and relevance of the OQUA, environmental restructuring regarding the optimal use of the OQUA, and incentivisation with feedback on the valuable outcomes of the OQUA for the patient, professional and healthcare. Future research is needed to determine the feasibility of the implementation strategy.
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  • 文章类型: English Abstract
    这项研究的目的是描述流行病学方面,不同类型耳廓和耳周病变的临床特征和处理原则。
    这是一项为期5年的回顾性描述性研究(从2018年5月1日至2023年4月30日),对因耳廓或耳周区域的功能性或美容性投诉而咨询的患者记录进行了研究。
    5年共159例,即每年31例,符合研究标准。患者的平均年龄为22.2岁。儿童和学生分别占病例的24.5%和23.9%。耳部病理占64.8%,耳周病理占36.2%。肿瘤和外伤分别占33.3%和29.6%,29.9%的病例发现先天性病变。在创伤性病变中,故意攻击和殴打是21.3%的原因,其次是17.2%的道路交通事故。右耳受累占48%,小叶受累占40.4%。瘢痕疙瘩占所有病例的17.6%,53%的肿瘤和假瘤.50%的病例累及左耳。在10.7%的病例中,穿孔是瘢痕疙瘩的原因。
    耳廓和耳廓周围病变以良性肿瘤为主,创伤和先天性病理,涉及年轻科目。根据病变的类型进行管理,考虑到功能和美学。
    The aim of this study is to describe the epidemiological aspects, clinical features and principles of management of different types of auricular and peri-auricular pathologies.
    This is a 5-year retrospective descriptive study (from May 1, 2018 to April 30, 2023) of the records of patients who consulted for a functional or cosmetic complaint relating to the auricle or periauricular region in the ENT and cervico-facial surgery department of the Centre hospitalier universitaire Sylvanus Olympio.
    A total of 159 cases over 5 years, i.e. an annual frequency of 31 cases, met the study criteria. The mean age of the patients was 22.2 years. Children and students accounted for 24.5% and 23.9% of cases respectively. Auricular pathologies accounted for 64.8% of cases and peri-auricular pathologies for 36.2%.Tumors and trauma accounted for 33.3% and 29.6% of cases respectively, and congenital pathologies were found in 29.9% of cases. Among traumatic lesions, intentional assault and battery was the cause in 21.3%, followed by road accidents in 17.2%. The right ear was affected in 48% and the lobule in 40.4%. Keloids accounted for 17.6% of all cases, and 53% of tumors and pseudotumors. The left ear was involved in 50% of cases. Piercing was the cause of keloids in 10.7% of cases.
    Auricular and peri-auricular pathologies were dominated by benign tumors, trauma and congenital pathologies, and involved young subjects. Management is based on the type of lesion, with functional and aesthetic considerations in mind.
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  • 文章类型: Journal Article
    背景:耳突髁综合征(ARCND)是一种极为罕见的常染色体显性或隐性疾病,通常表现为问号耳(QME),下颌髁突发育不全,和小颌畸形。严重的牙齿和颌面部畸形对患者的生活和临床治疗提出了相当大的挑战。目前,世界上只有少数ARCND病例报告,但大多数与基因突变有关,临床症状,和耳朵矫正;关于治疗牙面畸形的报道很少。
    方法:这里,我们报告了一个中国家庭中罕见的ARCND病例。使用全外显子组测序在患者及其兄弟中鉴定了鸟嘌呤核苷酸结合蛋白α抑制活性多肽3(GNAI3)中的新插入突变。经过多学科的咨询和检查,序贯正畸治疗和颅面手术,包括牵张成骨和正颌手术,使用三维(3D)数字技术治疗患者的牙颌面畸形。5年随访时预后良好,病人恢复正常生活.
    结论:ARCND是一种单基因且罕见的疾病,可以根据其核心特征的临床三联征进行诊断。分子诊断在临床特征不明显的患者的诊断中起着至关重要的作用。我们在GNAI3中提出了一个新的插入变异,该变异在中国家庭的110116384号染色体的外显子2中被鉴定。在3D数字技术指导下,术前正畸治疗结合牵张成骨和正颌手术的序贯治疗可能是治疗ARCND的一种实用有效的方法。
    BACKGROUND: Auriculocondylar syndrome (ARCND) is an extremely rare autosomal dominant or recessive condition that typically manifests as question mark ears (QMEs), mandibular condyle hypoplasia, and micrognathia. Severe dental and maxillofacial malformations present considerable challenges in patients\' lives and clinical treatment. Currently, only a few ARCND cases have been reported worldwide, but most of them are related to genetic mutations, clinical symptoms, and ear correction; there are few reports concerning the treatment of dentofacial deformities.
    METHODS: Here, we report a rare case of ARCND in a Chinese family. A novel insertional mutation in the guanine nucleotide-binding protein alpha-inhibiting activity polypeptide 3 (GNAI3) was identified in the patient and their brother using whole-exome sequencing. After a multidisciplinary consultation and examination, sequential orthodontic treatment and craniofacial surgery, including distraction osteogenesis and orthognathic surgery, were performed using three-dimensional (3D) digital technology to treat the patient\'s dentofacial deformity. A good prognosis was achieved at the 5-year follow-up, and the patient returned to normal life.
    CONCLUSIONS: ARCND is a monogenic and rare condition that can be diagnosed based on its clinical triad of core features. Molecular diagnosis plays a crucial role in the diagnosis of patients with inconspicuous clinical features. We present a novel insertion variation in GNAI3, which was identified in exon 2 of chromosome 110116384 in a Chinese family. Sequential therapy with preoperative orthodontic treatment combined with distraction osteogenesis and orthognathic surgery guided by 3D digital technology may be a practical and effective method for treating ARCND.
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  • 文章类型: Case Reports
    背景:红耳综合症是耳朵的灼烧感和红斑,与包括偏头痛在内的各种疾病相关,三叉神经痛,自身免疫性疾病等.RES病理生理学的理论已经从当前对合并症的理解中发展起来。表征RES的潜在机制对于定义有效治疗至关重要。
    方法:三名白种人患者,年龄15、47和67岁,偏头痛,本手稿报道了一例红斑性疼痛。RES病理生理学由于其可变的临床表现和许多合并症而尚未完全理解。很难确定有效的治疗方法。
    结论:RES似乎在很大程度上具有治疗抗性,大多数选择包括治疗相关疾病和减少疼痛。对未来案件的进一步调查应导致对RES的根本原因有更全面的了解,希望,成功的治疗。
    BACKGROUND: Red Ear Syndrome is a burning sensation and erythema of the ear, associated with a various number of disorders including migraine, trigeminal neuralgia, autoimmune disorders etc. Theories for RES pathophysiology have developed from current understandings of comorbid conditions. Characterizing the underlying mechanism of RES is crucial for defining effective treatments.
    METHODS: Three caucasian patients, ages 15, 47, and 67 years, with migraine, one with erythromelalgia are reported in this manuscript. RES pathophysiology is not fully understood due to its variable clinical presentation and numerous comorbid conditions, making it difficult to identify effective treatments.
    CONCLUSIONS: RES seems to be largely treatment-resistant, and most options involve treating the associated disorders and minimizing pain. Further investigation of future cases should lead to a more comprehensive understanding of the fundamental cause of RES and, hopefully, successful treatments.
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  • 文章类型: Case Reports
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  • 文章类型: Journal Article
    目的:在正常耳镜检查的初步诊断评估中,如果有机械性病变,可能很难确定具体的病理。听力图可以告知传导性听力损失,但不能告知根本原因。例如,内耳状况上耳道裂开(SCD)和中耳病变骨固定术(SF)之间的听力图相似,尽管病理和病变部位存在差异。为了获得机械信息,宽带鼓室测量(WBT)可以很容易地进行无创。吸光度,最常见的WBT指标,与吸收的声能有关,可以提供有关特定机械病理学的信息。然而,吸光度测量是具有挑战性的分析和解释。本研究开发了一种原型分类方法来自动化诊断估计。考虑了三种预测模型:一种用于识别SCD与SF的耳朵,另一个用于识别SCD与正常,最后,一种区分SCD的三向分类模型,SF,正常的耳朵
    方法:在鼓室峰值压力(TPP)和0daPa下,在具有SCD和SF的耳朵以及正常耳朵中测量吸光度。通过两种方法估算特性阻抗:常规方法(基于恒定的耳道面积)和浪涌方法,用声学方法估计耳道面积。使用多变量逻辑回归的分类模型预测每个条件的概率。要量化预期性能,选择概率最高的病症作为可能的诊断.模型的特点包括:仅吸收,仅空气-骨间隙(ABG),和吸光度+ABG。将吸光度转化为吸光度的主要成分,以降低数据的维数并避免共线性。为了最小化过拟合,正则化,由参数lambda控制,被引入回归中。跨多个频率的平均ABG是单个特征。通过调整主成分的数量来优化模型性能,λ的大小,以及ABG平均值中包含的频率。最后,使用TPP吸光度与0daPa的模型性能,并使用浪涌法与恒定耳道面积进行了比较。要在模型未知的种群上估计模型性能,对70%的数据重复训练回归模型,并对其余30%的数据进行验证.使用随机训练/验证拆分的交叉验证重复1000次。
    结果:基于仅吸光度特征区分SCD和SF的模型对SCD的敏感性为77%,对SF的敏感性为82%。结合吸光度+ABG将灵敏度提高到96%和97%。仅使用吸光度区分SCD和正常情况提供40%的SCD灵敏度,通过吸光度+ABG提高到89%。仅使用吸光度的三向模型正确分类了31%的SCD,SF的20%和正常耳的81%。吸光度+ABG对SCD的敏感性提高到82%,SF为97%,正常为98%。总的来说,在TPP下使用吸光度的分类性能优于在0daPa下的分类性能。
    结论:作为多变量逻辑回归模型的特征,宽带吸收和ABG的组合可以在初始评估时为机械性耳部病变提供良好的诊断估计。这种诊断自动化可以实现更快的后处理并提高资源效率。
    OBJECTIVE: During an initial diagnostic assessment of an ear with normal otoscopic exam, it can be difficult to determine the specific pathology if there is a mechanical lesion. The audiogram can inform of a conductive hearing loss but not the underlying cause. For example, audiograms can be similar between the inner-ear condition superior canal dehiscence (SCD) and the middle-ear lesion stapes fixation (SF), despite differences in pathologies and sites of lesion. To gain mechanical information, wideband tympanometry (WBT) can be easily performed noninvasively. Absorbance , the most common WBT metric, is related to the absorbed sound energy and can provide information about specific mechanical pathologies. However, absorbance measurements are challenging to analyze and interpret. This study develops a prototype classification method to automate diagnostic estimates. Three predictive models are considered: one to identify ears with SCD versus SF, another to identify SCD versus normal, and finally, a three-way classification model to differentiate among SCD, SF, and normal ears.
    METHODS: Absorbance was measured in ears with SCD and SF as well as normal ears at both tympanometric peak pressure (TPP) and 0 daPa. Characteristic impedance was estimated by two methods: the conventional method (based on a constant ear-canal area) and the surge method, which estimates ear-canal area acoustically.Classification models using multivariate logistic regression predicted the probability of each condition. To quantify expected performance, the condition with the highest probability was selected as the likely diagnosis. Model features included: absorbance-only, air-bone gap (ABG)-only, and absorbance+ABG. Absorbance was transformed into principal components of absorbance to reduce the dimensionality of the data and avoid collinearity. To minimize overfitting, regularization, controlled by a parameter lambda, was introduced into the regression. Average ABG across multiple frequencies was a single feature.Model performance was optimized by adjusting the number of principal components, the magnitude of lambda, and the frequencies included in the ABG average. Finally, model performances using absorbance at TPP versus 0 daPa, and using the surge method versus constant ear-canal area were compared. To estimate model performance on a population unknown by the model, the regression model was repeatedly trained on 70% of the data and validated on the remaining 30%. Cross-validation with randomized training/validation splits was repeated 1000 times.
    RESULTS: The model differentiating between SCD and SF based on absorbance-only feature resulted in sensitivities of 77% for SCD and 82% for SF. Combining absorbance+ABG improved sensitivities to 96% and 97%. Differentiating between SCD and normal using absorbance-only provided SCD sensitivity of 40%, which improved to 89% by absorbance+ABG. A three-way model using absorbance-only correctly classified 31% of SCD, 20% of SF and 81% of normal ears. Absorbance+ABG improved sensitivities to 82% for SCD, 97% for SF and 98% for normal. In general, classification performance was better using absorbance at TPP than at 0 daPa.
    CONCLUSIONS: The combination of wideband absorbance and ABG as features for a multivariate logistic regression model can provide good diagnostic estimates for mechanical ear pathologies at initial assessment. Such diagnostic automation can enable faster workup and increase efficiency of resources.
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  • 文章类型: Journal Article
    在耳鼻咽喉科中,需要精确和智能地评估中耳结构的复杂性,以诊断与耳鼻咽喉科有关的疾病。由于解剖细节的复杂性和各种疾病的病因,如创伤,慢性中耳炎,和先天性异常,传统的诊断程序可能无法产生准确的诊断。这项研究旨在通过将高分辨率螺旋计算机断层扫描(HRSCT)扫描与深度学习技术(DLT)相结合来增强耳颞区和小骨疾病的诊断。这项研究采用了一种深度学习方法,卷积神经网络-UNet(CNN-UNet),从医学照片中提取亚像素信息。这种方法为医生和研究人员提供了尖端资源,导致突破性的发现和更好的患者医疗保健。研究工作是CNN-UNet模型和高分辨率计算机断层扫描(CT)扫描之间的相互作用,自动化活动,包括小骨分割,裂缝检测,和中断导致分类,加快诊断过程,增加临床决策。建议的HRSCT-DLT模型代表了高分辨率螺旋CT扫描与CNN-UNet模型的集成,经过微调,以解决耳廓颞骨和听骨疾病的细微差别。这种新颖的组合提高了诊断效率和我们对这些复杂疾病的整体理解。这项研究的结果突出了将高分辨率CT扫描与CNN-UNet模型结合在耳鼻喉科的前景,为更准确的诊断和更个性化的治疗计划铺平了道路,为患者经历耳颞骨和小骨相关的破坏。
    Precision and intelligence in evaluating the complexities of middle ear structures are required to diagnose auriculotemporal and ossicle-related diseases within otolaryngology. Due to the complexity of the anatomical details and the varied etiologies of illnesses such as trauma, chronic otitis media, and congenital anomalies, traditional diagnostic procedures may not yield accurate diagnoses. This research intends to enhance the diagnosis of diseases of the auriculotemporal region and ossicles by combining High-Resolution Spiral Computed Tomography (HRSCT) scanning with Deep Learning Techniques (DLT). This study employs a deep learning method, Convolutional Neural Network-UNet (CNN-UNet), to extract sub-pixel information from medical photos. This method equips doctors and researchers with cutting-edge resources, leading to groundbreaking discoveries and better patient healthcare. The research effort is the interaction between the CNN-UNet model and high-resolution Computed Tomography (CT) scans, automating activities including ossicle segmentation, fracture detection, and disruption cause classification, accelerating the diagnostic process and increasing clinical decision-making. The suggested HRSCT-DLT model represents the integration of high-resolution spiral CT scans with the CNN-UNet model, which has been fine-tuned to address the nuances of auriculotemporal and ossicular diseases. This novel combination improves diagnostic efficiency and our overall understanding of these intricate diseases. The results of this study highlight the promise of combining high-resolution CT scanning with the CNN-UNet model in otolaryngology, paving the way for more accurate diagnosis and more individualized treatment plans for patients experiencing auriculotemporal and ossicle-related disruptions.
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  • 文章类型: Journal Article
    咽鼓管球囊扩张术(ETBD)在ET功能障碍(ETD)的治疗中显示出有希望的结果;然而,难治性ETD患者易出现ETBD后复发症状。在ETBD过程中球囊导管的过高压力可能导致组织增生和损伤粘膜周围的纤维化变化。西罗莫司(SRL),抗增殖剂,抑制组织增殖。用由SRL组成的涂层溶液使用超声喷涂技术制造SRL涂层的球囊导管,纯化的虫胶,本研究旨在研究用SRL涂层球囊导管预防ETBD后大鼠ET组织增殖的有效性。在21只Sprague-Dawley老鼠中,左ET随机分为对照组(无药ETBD;n=9)和SRL组(n=9)。在ETBD之后立即以及在ETBD之后1和4周处死所有大鼠用于组织学检查。用三只大鼠代表正常的ET。与对照组相比,SRL涂层的ETBD显着抑制了机械损伤引起的组织增殖。在大鼠ET模型中,使用SRL涂层球囊导管的ETBD可有效且安全地维持ET腔的通畅,而在机械损伤部位无组织增殖。
    Eustachian tube balloon dilatation (ETBD) has shown promising results in the treatment of ET dysfunction (ETD); however, recurrent symptoms after ETBD frequently occur in patients with refractory ETD. The excessive pressure of balloon catheter during ETBD may induce the tissue hyperplasia and fibrotic changes around the injured mucosa. Sirolimus (SRL), an antiproliferative agent, inhibits tissue proliferation. An SRL-coated balloon catheter was fabricated using an ultrasonic spray coating technique with a coating solution composed of SRL, purified shellac, and vitamin E. This study aimed to investigate effectiveness of ETBD with a SRL-coated balloon catheter to prevent tissue proliferation in the rat ET after ETBD. In 21 Sprague-Dawley rats, the left ET was randomly divided into the control (drug-free ETBD; n = 9) and the SRL (n = 9) groups. All rats were sacrificed for histological examination immediately after and at 1 and 4 weeks after ETBD. Three rats were used to represent the normal ET. The SRL-coated ETBD significantly suppressed tissue proliferation caused by mechanical injuries compared with the control group. ETBD with SRL-coated balloon catheter was effective and safe to maintain ET luminal patency without tissue proliferation at the site of mechanical injuries for 4 weeks in a rat ET model.
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  • 文章类型: Review
    背景:耳廓髁突综合征(ARCND)是一种罕见的先天性第一和第二咽弓的颅面发育畸形综合征,在肺叶和螺旋之间的连接处出现外耳畸形,上颌畸形,下颌髁突发育不全。到目前为止,已经描述了ARCND的四种亚型,也就是说,ARCND1(OMIM#602483),ARCND2(ARCND2A,OMIM#614669;ARCND2B,OMIM#620458),ARCND3(OMIM#615706),和ARCND4(OMIM#620457)。
    方法:本研究报告了一例由PLCB4基因中的一种新的致病变异导致的ARCND2,并总结了PLCB4基因突变位点和ARCND2的表型。
    结果:先证者,一个5天大的男性新生儿,因呼吸窘迫被转诊到我们医院.小颌畸形,微小口腔,独特的问号耳朵,以及下颌髁突发育不全。基于三重奏的全外显子组测序鉴定了NM_001377142.1:c.1928C>T的新型错义变体(NP_001364071.1:p。Ser643Phe)在PLCB4基因中,预测会损害局部结构稳定性,结果可能会影响蛋白质的功能。从文献回顾来看,仅检索到36例PLCB4基因突变患者.
    结论:与其他检查ARCND2家族性病例的研究一样,在PLCB4基因的不同家族杂合突变中观察到不完全外显率和可变表达率。虽然,绝大多数ARCND2患者的运动和智力发育在正常范围内,仍需长期随访和评估.
    BACKGROUND: Auriculocondylar syndrome (ARCND) is a rare congenital craniofacial developmental malformation syndrome of the first and second pharyngeal arches with external ear malformation at the junction between the lobe and helix, micromaxillary malformation, and mandibular condylar hypoplasia. Four subtypes of ARCND have been described so far, that is, ARCND1 (OMIM # 602483), ARCND2 (ARCND2A, OMIM # 614669; ARCND2B, OMIM # 620458), ARCND3 (OMIM # 615706), and ARCND4 (OMIM # 620457).
    METHODS: This study reports a case of ARCND2 resulting from a novel pathogenic variant in the PLCB4 gene, and summarizes PLCB4 gene mutation sites and phenotypes of ARCND2.
    RESULTS: The proband, a 5-day-old male neonate, was referred to our hospital for respiratory distress. Micrognathia, microstomia, distinctive question mark ears, as well as mandibular condyle hypoplasia were identified. Trio-based whole-exome sequencing identified a novel missense variant of NM_001377142.1:c.1928C>T (NP_001364071.1:p.Ser643Phe) in the PLCB4 gene, which was predicted to impair the local structural stability with a result that the protein function might be affected. From a review of the literature, only 36 patients with PLCB4 gene mutations were retrieved.
    CONCLUSIONS: As with other studies examining familial cases of ARCND2, incomplete penetrance and variable expressivity were observed within different families\' heterozygous mutations in PLCB4 gene. Although, motor and intellectual development are in the normal range in the vast majority of patients with ARCND2, long-term follow-up and assessment are still required.
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