Congenital Microtia

先天性小生症
  • 文章类型: Journal Article
    尽管小耳畸形的耳廓重建技术有所改善,低发际线或过多的头发生长等问题仍然会给重建的耳朵带来美学问题。据报道,激光脱毛是解决头发问题的一种方法。然而,很少有研究讨论脱毛的适当区域。对276例接受Nagata两阶段耳重建的单侧小耳畸形患者进行了回顾性分析。男女比例为2.5(男性198/女性78)。使用强脉冲光脱毛来去除毛发。为了确定合适的脱毛区域,我们测量了脱毛的程度。在第一阶段之前,上点(定位后)与发际线之间的平均垂直距离为3.42±4.75mm(-10-20mm)。第一阶段之后,重建耳朵上点与发际线之间的平均垂直距离为1.27±2.41mm(-10-15mm)。通过卡方检验评估各地区脱毛成功率的差异,我们旨在确定合适的脱毛区域。在第一阶段之前,脱毛垂直距离≥10毫米,成功率为92.1%。第一阶段手术后,在需要额外脱毛的患者中,垂直脱毛距离≥4mm,成功率为81.3%。根据我们的观察,我们建议≥10mm(首次手术前)或≥4mm(首次手术后)的脱毛区域是激光脱毛的理想范围.
    Although the technologies for auricular reconstruction in microtia have improved, issues such as low hairlines or excessive hair growth can still pose aesthetic problems for the reconstructed ear. Laser depilation has been reported as a solution for hair problems. However, few studies have discussed the appropriate region for hair removal. A retrospective analysis was performed on 276 patients with unilateral microtia who underwent the Nagata two-stage ear reconstruction. The gender ratio of male to female was 2.5 (198 males/78 females). Intense pulsed light depilation was used to remove hair. To determine the proper hair removal area, we measured the extent of hair removal. Before the first stage, the average vertical distance between the upper point (after localization) and hairline was 3.42 ± 4.75 mm (-10-20 mm). After the first stage, the average vertical distance between the upper point of the reconstructed ear and the hairline was 1.27 ± 2.41 mm (-10-15 mm). By using chi-square test to assess differences in hair removal success rates among various regions, we aimed to identify the suitable depilation region. Before the first stage, a depilation vertical distance ≥ 10 mm led to a 92.1% success rate. After the first stage surgery, among the patients needing additional hair removal, a vertical depilation distance ≥ 4 mm resulted in an 81.3% success rate. Based on our observation, we suggested that a depilation region of ≥ 10 mm (before the first surgery) or ≥ 4 mm (after the first surgery) would be the ideal range for laser hair removal.
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  • 文章类型: Journal Article
    目的:当前的研究采用了颅骨模拟器验证方法来评估制造商默认设置下的软带骨传导听力设备(BCHD)的输出是否与拟合公式确定的目标有很大偏差。
    背景:实耳分析用于验证各种机构中的空气传导听力设备(ACHD)的装配。这个程序,然而,尚未用于BCHD的装配,很大程度上是由于测试这些设备输出到颞骨的难度。尽管有头骨模拟器,它们尚未用于临床测量BCHD输出。
    方法:这种前瞻性,单中心研究纳入42名受试者,3个月至10岁,与小耳畸形闭锁相关的轻度至重度双侧传导性听力损失。通过纯音测听法(PTA)对22名4岁或以上的受试者(PTA组)进行行为评估,以及20名年龄小于4岁的受试者(ABR组)的听觉脑干反应(ABR)。在受试者佩戴规定的软带BCHD6个月后,在使用自己的BCHD时重新评估了他们的拨号水平(DL)阈值,在所有频率上配置为零增益,仅用作骨骼振动器。这些DL阈值被输入到拟合公式中,儿童所需的感觉水平骨传导设备(DSL-BCD),获取BCHD输出的目标值。在制造商默认设置下编程的BCHD的模拟器输出响应于在55、65和80dBSPL下呈现的语音进行测量,然后根据模拟器输出和目标之间的差异进行增益调整。在增益调整之前和之后测量辅助语音清晰度指数(SII)。
    结果:制造商设置下的软带BCHD的输出通常低于规定的目标值。这种差异在低频率和低水平下更大。在12个测试点(从500到4000Hz的四个频率乘以三个级别),22(52.3%)和42(100%)BCHD的偏差为+7和+5dB,分别,在一个点或更多。增益调整减小了偏差并改善了所呈现的两个较低语音级别处的SII值。
    结论:具有制造商设置的软带骨传导听力设备(BCHD)的模拟器输出可能会显示出与公式的显着偏差。客观输出验证应被视为BCHD拟合的有益步骤,并在适用时推荐。
    OBJECTIVE: The current study employed a skull-simulator verification method to assess whether the output of softband bone conduction hearing devices (BCHDs) at the manufacturer\'s default settings deviated widely from the target determined by the fitting formula.
    BACKGROUND: Real ear analysis is utilized for the verification of the fitting of air conduction hearing devices (ACHDs) in a variety of institutions. This procedure, however, has not been used in the fitting of BCHDs, largely due to the difficulty of testing the output of these devices to temporal bones. Despite the availability of skull simulators, they have not been utilized clinically to measure BCHD output.
    METHODS: This prospective, single-center study enrolled 42 subjects, aged 3 months to 10 years, with microtia-atresia-associated mild-to-severe bilateral conductive hearing loss. Hearing sensitivity was evaluated behaviorally by pure tone audiometry (PTA) in 22 subjects 4 years or older (the PTA group), and by auditory brainstem response (ABR) in 20 subjects younger than 4 years (the ABR group). Following 6 months of subjects wearing the prescribed softband BCHDs, their dial level (DL) thresholds were reassessed while using their own BCHDs, configured with zero gain across all frequencies, functioning solely as a bone vibrator. These DL thresholds were inputted into the fitting formula, desired sensation level-bone conduction devices (DSL-BCD) for children, to obtain the target values of BCHD output. The simulator output of the BCHD programmed at the manufacturer\'s default setting was measured in response to speech presented at 55, 65, and 80 dB SPL, followed by gain adjustment based on the differences between the simulator output and the target. Aided speech intelligibility index (SII) was measured before and after the gain adjustment.
    RESULTS: The softband BCHDs at the manufacturer\'s settings generally had lower output than the prescribed target values. This difference was larger at low frequencies and low levels. Across the 12 points tested (four frequencies from 500 to 4000 Hz multiplied by three levels), 22 (52.3%) and 42 (100%) BCHDs had deviations of +7 and +5 dB, respectively, at one point or more. The gain adjustments reduced the deviation and improved the SII values at the two lower levels of speech presented.
    CONCLUSIONS: The simulator output of softband bone conduction hearing devices (BCHDs) with the manufacturer\'s settings may exhibit significant deviations from the formula. Objective output verification should be considered a beneficial step in BCHD fitting and is recommended when applicable.
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  • 文章类型: Letter
    暂无摘要。
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  • 文章类型: Journal Article
    人的耳廓有着复杂的结构,小耳畸形是一种先天性畸形,其特征是受影响的耳朵中尺寸减小和复杂结构的丢失,发病率很高。我们以前的研究表明,细胞迁移不足是小视体发病的主要细胞学基础,然而,潜在机制尚不清楚.这里,我们进一步证明了小耳软骨细胞在细胞迁移过程中显示出降低的定向持久性。定向持久性可以定义与定向运动相关的前沿,任何错误都会影响细胞功能和组织形态。通过对运动性相关基因的筛选和后续的确认,活性Rac1(Rac1-GTP)被确定为对于微耳软骨细胞迁移的定向持久性受损至关重要。此外,检测到Rho鸟嘌呤核苷酸交换因子(GEF)和RhoGTPase激活蛋白(GAP),Tiam1的过表达显着上调Rac1-GTP的水平并改善小耳软骨细胞的定向迁移。始终如一,Tiam1和活性Rac1的表达模式在小耳小鼠模型中发现,Bmp5se/J和Prkralear-3J/GrsrJ。总的来说,我们的研究结果为小耳畸形患者的小耳发育和组织工程治疗策略提供了新的见解。
    The human auricle has a complex structure, and microtia is a congenital malformation characterized by decreased size and loss of elaborate structure in the affected ear with a high incidence. Our previous studies suggest that inadequate cell migration is the primary cytological basis for the pathogenesis of microtia, however, the underlying mechanism is unclear. Here, we further demonstrate that microtia chondrocytes show a decreased directional persistence during cell migration. Directional persistence can define a leading edge associated with oriented movement, and any mistakes would affect cell function and tissue morphology. By the screening of motility-related genes and subsequent confirmations, active Rac1 (Rac1-GTP) is identified to be critical for the impaired directional persistence of microtia chondrocytes migration. Moreover, Rho guanine nucleotide exchange factors (GEFs) and Rho GTPase-activating proteins (GAPs) are detected, and overexpression of Tiam1 significantly upregulates the level of Rac1-GTP and improves directional migration in microtia chondrocytes. Consistently, decreased expression patterns of Tiam1 and active Rac1 are found in microtia mouse models, Bmp5se/J and Prkralear-3J/GrsrJ. Collectively, our results provide new insights into microtia development and therapeutic strategies of tissue engineering for microtia patients.
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  • 文章类型: Journal Article
    背景:胸部畸形是使用自体肋软骨重建耳廓的潜在并发症。用于获取肋软骨的切口大小对胸部畸形的影响尚不清楚。本研究旨在探讨用于获取肋软骨的切口大小与胸部畸形发生的相关性。
    方法:我们回顾性分析了2021年6月至2022年9月期间使用自体肋软骨进行耳部重建的患者。根据肋软骨切口的大小将患者分为两组:大和小。术后18-24个月行胸部计算机断层扫描(CT),然后进行三维彩色图定量,以评估胸部表面的不对称程度。随后,我们进行了定量数据分析,以比较大切口组和小切口组的胸部不对称程度.视觉模拟量表(VAS)用于评估患者对胸部形态的满意度。
    结果:本研究包括62名患者,每组31个相等的分布。小切口组和大切口组的平均不对称值分别为-3.15±1.88和-5.27±3.63。此外,小切口组和大切口组的平均VAS评分分别为7.48±0.72和5.09±0.94.两组间差异有统计学意义。
    结论:小切口获取肋软骨能有效缓解胸部畸形的严重程度,显著提高患者满意度。
    方法:本期刊要求作者为每篇文章分配一定程度的证据。对于这些循证医学评级的完整描述,请参阅目录或在线作者说明www。springer.com/00266.
    BACKGROUND: Chest deformity is a potential complication associated with auricular reconstruction using autologous costal cartilage. The impact of the incision size employed for costal cartilage harvesting on chest deformities remains unclear. This study aimed to investigate the correlation between the incision size used for harvesting costal cartilage and the occurrence of chest deformities.
    METHODS: We retrospectively analyzed patients who underwent ear reconstruction using autologous costal cartilage between June 2021 and September 2022. The patients were categorized into two groups based on the size of the costal cartilage incision: large and small. Chest computed tomography (CT) was performed 18-24 months postoperatively, followed by three-dimensional color map quantification to assess the degree of asymmetry of the chest surface. Subsequently, quantitative data analysis was performed to compare the extent of chest asymmetry between the large- and small-incision groups. The Visual Analog Scale (VAS) was used to assess patient satisfaction with chest morphology.
    RESULTS: This study included 62 patients, with an equal distribution of 31 in each group. The mean asymmetry value of the small and large incision groups was -3.15 ± 1.88 and -5.27 ± 3.63, respectively. Moreover, the mean VAS score for the small and large incision groups was 7.48 ± 0.72 and 5.09 ± 0.94, respectively. Statistically significant differences were observed between the two groups.
    CONCLUSIONS: Small incision costal cartilage harvesting can effectively alleviate the severity of chest deformities and significantly enhance patient satisfaction.
    METHODS: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .
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  • 文章类型: Journal Article
    背景:据报道,小骨症是最常见的先天性颅面畸形之一。由于复杂的病因和胚胎研究的伦理障碍,微小症的确切机制尚不清楚。在这里,我们根据生物信息学分析和对其他散发性小虫患者的进一步验证,报告了一例罕见的小虫伴肋骨软骨发育不良的病例。
    结果:通过WES筛选出114个有害插入和缺失(InDel)和646个有害SNP,候选基因根据它们与microtia的相对影响按降序排列。无标记蛋白质组分析表明,各组间蛋白质差异显著,与氧化应激和能量代谢有关。通过实时PCR和免疫组织化学,我们进一步验证了其他散发性小耳和正常耳软骨细胞之间的候选基因,显示苏氨酸天冬氨酸酶,cadherin-13,醛缩酶B和脂联素在mRNA水平上显着上调,但在蛋白质水平上显着降低。ROS检测和线粒体膜电位(ΔΦm)检测证明,小耳软骨细胞中存在氧化应激。
    结论:我们的结果不仅通过WES和无标记蛋白质组学发现了新的候选基因,但也首次推测代谢和氧化应激可能会干扰软骨发育,这可能成为治疗靶点和潜在的生物标志物,在未来具有临床应用价值。
    BACKGROUND: Microtia is reported to be one of the most common congenital craniofacial malformations. Due to the complex etiology and the ethical barrier of embryonic study, the precise mechanisms of microtia remain unclear. Here we report a rare case of microtia with costal chondrodysplasia based on bioinformatics analysis and further verifications on other sporadic microtia patients.
    RESULTS: One hundred fourteen deleterious insert and deletion (InDel) and 646 deleterious SNPs were screened out by WES, candidate genes were ranked in descending order according to their relative impact with microtia. Label-free proteomic analysis showed that proteins significantly different between the groups were related with oxidative stress and energy metabolism. By real-time PCR and immunohistochemistry, we further verified the candidate genes between other sporadic microtia and normal ear chondrocytes, which showed threonine aspartase, cadherin-13, aldolase B and adiponectin were significantly upregulated in mRNA levels but were significantly lower in protein levels. ROS detection and mitochondrial membrane potential (∆ Ψ m) detection proved that oxidative stress exists in microtia chondrocytes.
    CONCLUSIONS: Our results not only spot new candidate genes by WES and label-free proteomics, but also speculate for the first time that metabolism and oxidative stress may disturb cartilage development and this might become therapeutic targets and potential biomarkers with clinical usefulness in the future.
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  • 文章类型: Journal Article
    背景:先天性小症提出了包括身体残疾和社会心理困扰的挑战。据悉,低收入人群生育先天畸形婴儿的可能性较高。2023年6月底,耳廓重建部分纳入我院国家医疗保险。
    方法:简而言之,1290例手术,在2023年进行了Ⅰ期和Ⅱ期耳廓重建伴组织扩张术,涉及779例患者.患者数据,包括年龄,性别,逗留时间,residence,和成本,是从电子病历系统中检索出来的.医疗保险之前和之后的最终费用,并对各省市医保报销比例进行统计分析。
    结果:在保险范围之后,观察到手术数量显着增加(514[39.84%]vs.776[60.16%],χ2=45.99,p=0.000),单边和双边第一阶段和第二阶段耳廓重建的自付费用显着降低(3915.01美元与$6645.28,p<0.05;$11546.80vs.5198.08美元,p<0.05)。各区域的偿还率存在明显差异,但与当地人均GDP没有相关性。住院时间与住院费用呈正相关。病人的年龄与住院费用无关,而是停留的时间。
    结论:小耳畸形治疗的医疗保险显著减轻了患者家庭的经济负担,增加了耳廓重建手术的数量。这些发现强调了保险在提高先天性小耳病患者的医疗保健可及性和可负担性方面的关键作用。
    BACKGROUND: Congenital microtia presents challenges that encompass physical disabilities and psychosocial distress. It is reported that people with low income have a higher possibility of giving birth to babies with congenital malformations. At the end of June 2023, auricular reconstruction was partially incorporated into national health insurance in our hospital.
    METHODS: Briefly, 1290 surgeries, including stage-I and stage-II auricular reconstruction with tissue expansion were performed in 2023, involving 779 patients. Patient data, including age, sex, length of stay, residence, and costs, were retrieved from the electronic medical record system. The final cost before and after health insurance coverage, as well as the medical insurance reimbursement ratio in each province and municipality were statistically analyzed.
    RESULTS: Following insurance coverage, a significant increase in the number of surgeries was observed (514 [39.84%] vs. 776 [60.16%], χ2 = 45.99, p = 0.000), with notable reductions in out-of-pocket costs for unilateral and bilateral stage-I and -II auricular reconstructions ($3915.01 vs. $6645.28, p < 0.05; $11546.80 vs. $5198.08, p < 0.05). Disparities in reimbursement rates across regions were evident, but showed no correlation to the local GDP per capita. There was a positive correlation between the length of stay and inpatient cost. Patient\'s age was not related to the inpatient cost, but to the length of stay.
    CONCLUSIONS: The health insurance coverage for microtia treatment significantly alleviated financial burdens on the patients\' family and increased the number of auricular reconstruction surgeries. These findings underscore the critical role of insurance coverage in enhancing healthcare accessibility and affordability for patients with congenital microtia.
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  • 文章类型: Journal Article
    小耳畸形是一只或两只耳朵的先天性和形态异常,这是由遗传和外部环境因素共同作用的结果。到目前为止,广泛的研究探索了计算方法在微观结构中的潜在利用,并获得了有希望的结果。因此,作者回顾了前面提到的研究的成就和不足,从人工智能的角度来看,计算机辅助设计和手术,计算机断层扫描,医学和生物数据挖掘,和现实相关的技术,包括虚拟现实和增强现实。希望提供新颖的概念,并激发该领域的进一步研究。
    Microtia is a congenital and morphological anomaly of one or both ears, which results from a confluence of genetic and external environmental factors. Up to now, extensive research has explored the potential utilization of computational methodologies in microtia and has obtained promising results. Thus, the authors reviewed the achievements and shortcomings of the research mentioned previously, from the aspects of artificial intelligence, computer-aided design and surgery, computed tomography, medical and biological data mining, and reality-related technology, including virtual reality and augmented reality. Hoping to offer novel concepts and inspire further studies within this field.
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  • 文章类型: Case Reports
    当搜索先天性耳朵异常之间的关联时,特别是小耳畸形和相关畸形,如唇腭裂和先天性心脏病,发现了一些临床分析和遗传理论。被送到整形外科医院的一名10岁男孩因患有液体痕迹的先天性耳前瘘9年多而感到困惑。术前诊断为腮裂瘘和先天性左耳畸形。通过浏览有关遗传问题和临床表现的研究,这可能归因于微生之间的可能关联,branch裂瘘,和法洛四联症,尽管其基本机制仍然受到关注。
    When searching over associations between congenital ear abnormalities, especially microtia and affiliated deformities like cleft lip or palate and congenital heart diseases, some clinical analysis and genetic theories are found. A 10-year-old boy sent to the plastic surgery hospital was puzzled by a congenital anterior auricular fistula with fluid trace for more than 9 years. The preoperative diagnoses were branchial cleft fistula and congenital left ear deformity with postoperation of TOF. By browsing over studies on genetic concerns and clinical performance, it may be attributed to a possible association between microtia, branchial cleft fistula, and tetralogy of Fallot, though whose fundamental mechanisms remain concerned.
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  • 文章类型: Journal Article
    本研究的主要目的是探讨小视症患者心电图异常的发生率和特点,并探讨与小耳畸形相关的心脏发育不良。这项回顾性研究分析了整形外科医院收治的大量小骨症患者,中国医学科学院北京协和医学院,从2017年9月到2022年8月。回顾了这些患者的常规心电图报告,以评估异常的发生率和特征。该研究共纳入了北京协和医学院整形外科医院收治的10,151例患者(小骨症组5598例,对照组4553例)。与对照组相比,小耳畸形组的异常心电图发生率明显更高(18.3%vs.13.6%,P<0.01),即使不包括鼻窦不规则(6.1%vs.4.4%,P<0.01)。在小骨症组的1025例异常心电图中,报告单纯性窦性不规则686例。排除窦性不规则为异常后,最常见的异常是右束支传导阻滞(37.5%),其次是窦性心动过缓(17.4%),ST-T波异常(13.3%),心房节律(9.1%),窦性心动过速(8.3%),和心室高电压(4.7%)。不太常见的心电图异常包括房性心动过速(2.1%),室性早搏(2.4%),和异位心房节律(1.8%)。1.2%和0.9%的病例存在房室传导阻滞和交界性心律,分别。WolffParkinsonWhite综合征和右位心的患病率较低,0.6%和0.9%,分别。发现与对照组相比,小耳畸形患者的心电图异常发生率更高。这些发现突出了心脏电生理学中潜在的先天性缺陷,除了存在与小耳畸形相符的先天性心脏缺陷。
    The main objective of this study was to investigate the incidence and characteristics of electrocardiographic abnormalities in patients with microtia, and to explore cardiac maldevelopment associated with microtia. This retrospective study analyzed a large cohort of microtia patients admitted to Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, from September 2017 to August 2022. The routine electrocardiographic reports of these patients were reviewed to assess the incidence and characteristics of abnormalities. The study included a total of 10,151 patients (5598 in the microtia group and 4553 in the control group) who were admitted to the Plastic Surgery Hospital of Peking Union Medical College. The microtia group had a significantly higher incidence of abnormal electrocardiographies compared to the control group (18.3% vs. 13.6%, P < 0.01), even when excluding sinus irregularity (6.1% vs. 4.4%, P < 0.01). Among the 1025 cases of abnormal electrocardiographies in the microtia group, 686 cases were reported with simple sinus irregularity. After excluding sinus irregularity as abnormal, the most prevalent abnormalities was right bundle branch block (37.5%), followed by sinus bradycardia (17.4%), ST-T wave abnormalities (13.3%), atrial rhythm (9.1%), sinus tachycardia (8.3%), and ventricular high voltage (4.7%). Less common ECG abnormalities included atrial tachycardia (2.1%), ventricular premature contraction (2.4%), and ectopic atrial rhythm (1.8%). atrioventricular block and junctional rhythm were present in 1.2% and 0.9% of the cases, respectively. Wolff Parkinson White syndrome and dextrocardia had a lower prevalence, at 0.6% and 0.9%, respectively. The occurrence of electrocardiographic abnormalities in microtia patients was found to be higher compared to the control group. These findings highlight the potential congenital defect in cardiac electrophysiology beyond the presence of congenital heart defect that coincide with microtia.
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