Goosecoid基因突变与先天性小耳畸形的关系

目的:对收集的43例先天性小耳畸形患者进行遗传因素分析,对Goosecoid(GSC)基因测序,探讨GSC基因与先天性小耳畸形的关系。方法:采集43例小耳畸形患者的外周血提取基因组DNA,对GSC基因的三个外显子分别设计引物,经PCR扩增纯化后直接测序。结果:6例患者在第二外显子的第197bp处发生了C→T的同义突变,编码氨基酸仍为酪氨酸;2例患者在第三外显子的第125bp处发生了A→G的错义突变,编码氨基酸由谷氨酸变成谷氨酰胺。结论:在先天性小耳畸形的患者中发现了GSC基因的突变。     

先天性小耳畸形手术治疗的研究进展

先天性小耳畸形是发病率较高的头面部畸形之一,常为耳廓及中耳腔同时存在,内耳发育不良相对少见,这一疾病所致的缺陷不仅影响到患者的容貌,更重要的是导致患者听觉功能的障碍,严重影响到患者的日常工作学习和生活。部分患者还伴有或多或少的心理影响,这在双侧小耳畸形的患者中更多见。手术是其主要的治疗方法,要求不仅重建外形正常的耳廓,同时还拥有正常或接近正常的听力。外耳廓再造和听力重建手术不仅使先天性小耳畸形患者的耳部外观明显改善,还能使其听觉功能进一步提高。本文主要综述了先天性小耳畸形的病因和流行病学、分类、手术时机和方式的选择、听力重建、耳廓再造的方法及组织工程学耳再造技术,重点介绍了耳廓再造材料的选择及手术注意点,以期为先天性小耳畸形的临床治疗提供更多理论依据。     

自体肋软骨移植耳廓再造术的护理

耳廓是由皮肤和软骨等构成的位于头颅两侧较薄的形态复杂的三维立体器官［１］。先天性小耳畸形系胚胎时期第一、二鳃弓发育异常所造成［２］,患耳无正常的耳廓形态,常伴有外耳道闭锁,耳屏缺如,严重影响外观,由于耳廓形态十分复杂,全耳再造术是整形再造术中最复杂最...     

传导性耳聋和神经性耳聋、神经病和精神病

传导性耳聋(传音性耳聋):外耳或中耳的病变妨碍声波传入内耳,引起听力下降叫传导性耳聋。病因有二:(一)外耳疾病。如先天性外耳道闭锁,鼓膜发育不全;外耳道机械性阻塞:外耳道炎性肿胀。(二)中耳疾病。如听骨缺损或先天性畸形;中耳外伤;中耳炎症;中耳肿瘤等。防治方法有三:(一)如外耳和中耳畸形,可作手术,重造外耳道或鼓膜,建立传音机构。(二)积极治疗急性中耳炎。(三)对耳硬化症,可用手术治疗,改进听力。     

EarWell耳矫治器对新生儿耳廓畸形的效果及其预后不良影响因素分析

摘要 目的：探讨EarWell耳矫治器对新生儿耳廓畸形的效果及其预后不良影响因素。方法：选取我院2019年3月到2022年3月收治的60例（共78耳）耳廓畸形新生儿作为研究对象,依照患儿年龄进行分组,将年龄≤7 d的16例（21耳）患儿分为A组,8-14 d的21例（26耳）分为B组,15-28 d的23（31耳）分为C组,对所有患儿采取EarWell耳矫治器治疗,对比不同组别患儿新生儿耳廓畸形的治疗总有效率,并发症和矫治时间。通过复查随访评价患儿预后情况,将48例（60耳）预后良好的患儿分为预后良好组,将12例（18耳）预后不良的患儿分为预后不良组,对比两组患儿临床相关资料。最后,采用logistic回归分析分析EarWell耳矫治器对新生儿耳廓畸形治疗预后不良的影响因素。结果：三组患儿治疗总有效率差异显著,A组（100.00 %）高于B组（88.46 %）与C组（64.52 %）（P＜0.05）;A组患儿并发症发生率为14.29 %,B组为15.38 %,C组为19.35 %,组间对比有差异（P＞0.05）;预后良好组与预后不良组患儿性别、畸形部位对比无差异（P＞0.05）,预后良好组与预后不良组患儿年龄、耳廓畸形Max分型、外耳道闭锁分级以及容貌耳长差值对比差异显著（P＜0.05）;logistic回归分析结果显示,年龄、耳廓畸形Max分型为新生儿耳廓畸形治疗预后不良的独立影响因素（P＜0.05）。结论：EarWell耳矫治器对于新生儿耳廓畸形矫治效果显著,并发症发生率较低,且年龄越小矫治效果越好。年龄、耳廓畸形Max分型为耳廓畸形新生儿的预后不良的独立影响因素,临床上针对此类患儿需采取一定预防措施,预防预后不良现象的发生。     

先天性外耳道闭锁的手术治疗

目的：探讨先天性外耳畸形手术治疗的效果。方法：对12例先天性外耳道闭锁进行手术治疗。结果：10例分别接受外耳道成形或（和）鼓膜修补及鼓室成形术,2例术中未找见鼓室。术后1例出现面瘫,2例术后发生中耳炎,1例外耳道重新闭锁。术后半年听力有不同程度提高,术后三年听力提高程度有所下降。结论：治疗效果与手术并发症的发生与否有关,远期听力改善效果较近期差。     

64排螺旋CT三维透明化VR重建在内耳畸形诊断中的应用

目的:研究三维透明化VR重建在内耳畸形中的表现,为先天性内耳疾病提供准确的影像诊断和临床治疗信息.方法:回顾32耳内耳畸形的64排HRCT容积数据,行三维透明化重建处理,按内耳畸形分类总结三维透明化重建方法及影像表现.结果:32耳的三维透明化VR重建图像结合透明化MPR重组图像均能很好揭示内耳畸形病变部位及程度,其中VR图像可以直观、立体地显示畸形的空间形态结构,透明化MPR重组图像可很好显示病变细节.本组先天内耳发育畸形有以下几种:耳蜗未发育(2耳);共同腔畸形(4耳);不完全分隔Ⅰ型(2耳,两例患者对侧耳均为共同腔畸形);不完全分隔Ⅱ型(即Mondini型)(16耳,多合并前庭、半规管及前庭导水管畸形);单纯前庭-半规管畸形2耳;单纯前庭导水管扩大(6耳).结论:三维透明化个性重建能准确评价内耳先天性疾病的类型和程度,为临床治疗提供重要的参考依据.     

神经嵴发育异常导致综合征型耳聋的机制

综合征型耳聋(Syndromic hearing loss, SHL)现已报道400多种,大多数发病率低,临床常见的有Waardenburg综合征(WS)、先天性小耳畸形综合征、前庭导水管扩大综合征等。因SHL具有极强的临床和遗传异质性,所以对其遗传基础及发病机制的研究变得十分困难。以SOX10和PAX3为中心的基因作用网络引起的神经嵴细胞功能异常与WS、小耳畸形及前庭导水管扩大等表型相关。本课题组前期研究也证实该基因网络参与WS的发病机制。文章针对神经嵴发育异常导致相关综合征型耳聋的发病机制的研究进展进行了系统的阐述,分析并归纳了与综合征型耳聋发病相关的神经嵴发育异常基因互作网络,以期为系统地研究常见综合征型耳聋致病基因的定位克隆以及发病机制提供研究思路和理论基础。     

一个先天性耳瘘管家系的调查

先天性耳瘘管是较常见的耳部畸形,是一种胚胎发育异常所致的上皮性小盲管。耳瘘管多开口于耳轮脚前或耳轮上,一般无害,但有的可反复感染,需手术治疗。     

达克宁霜治疗真菌性外耳道炎

真菌性外耳道炎为耳鼻喉科门诊常见疾患之一。我院自 1 992年以来用达克宁霜治疗真菌性外耳道炎 ,取得满意效果。1 .1　一般资料　本组 31例患者共 36耳患真菌性外耳道炎 ,其中男 2 5例 ,女 6例 ,年龄 1 8～ 71岁。均有耳内发痒及闷胀感 ,检查外耳道深部有白色、灰色、黄色或烟黑色霉苔 ,呈薄膜式或粉丝状 ;外耳道皮肤充血肿胀 ,表面有轻度糜烂 ,或少量脓性分泌物 ;将 31例患者 ( 36耳 )外耳道内分泌物作涂片镜检 ,均发现有菌丝体或芽胞状物。1 .2　治疗方法　先清除外耳道内苔膜或筒块状物 ,用生理盐水清洁外耳道 ,拭干创面。然后用小棉棒…     

Genome-Wide Linkage Study Suggests a Susceptibility Locus for Isolated Bilateral Microtia on 4p15.32–4p16.2

Microtia is a congenital deformity where the external ear is underdeveloped. Genetic investigations have identified many susceptibility genes of microtia-related syndromes. However, no causal genes were reported for isolated microtia, the main form of microtia. We conducted a genome-wide linkage analysis on a 5-generation Chinese pedigree with isolated bilateral microtia. We identified a suggestive linkage locus on 4p15.32–4p16.2 with parametric LOD score of 2.70 and nonparametric linkage score (Zmean) of 12.28 (simulated occurrence per genome scan equal to 0.46 and 0.47, respectively). Haplotype reconstruction analysis of the 4p15.32–4p16.2 region further confined the linkage signal to a 10-Mb segment located between rs12505562 and rs12649803 (9.65–30.24 cM; 5.54–15.58 Mb). Various human organ developmental genes reside in this 10-Mb susceptibility region, such as EVC, EVC2, SLC2A9, NKX3-2, and HMX1. The coding regions of three genes, EVC known for cartilage development and NKX3-2, HMX1 involved in microtia, were selected for sequencing with 5 individuals from the pedigree. Of the 38 identified sequence variants, none segregates along with the disease phenotype. Other genes or DNA sequences of the 10-Mb region warrant for further investigation. In conclusion, we report a susceptibility locus of isolated microtia, and this finding will encourage future studies on the genetic basis of ear deformity.     

Genome-wide association study shows that microtia in Altay sheep is caused by a 76 bp duplication of HMX1

Microtia is a congenital malformation of the external ear that can be observed in many species including sheep. However, the genetic basis of microtia still remains unclear. Here, a GWAS was conducted to investigate the genetic basis underlying microtia. A total of 55 samples from 26 microtia and 29 normal animals were genotyped with Illumina OvineHD BeadChip. The strongest significant SNP was identified on OAR6, approximating the evolutionarily conserved region of the HMX1 gene, which is related to congenital malformations of the external ear in other species such as cattle and rats. Sequencing an evolutionarily conserved region surrounding HMX1 revealed a duplication of 76 bp, which is concordant with microtia, suggesting a dominant inheritance mode. Identification of this causal mutation in the HMX1 gene indicates the role of this particular gene in the development of the external ear and provides a genetic marker for selection against microtia.     

Risks of selected congenital malformations among offspring of mixed race-ethnicity

BACKGROUND: Little is known about the occurrence of specific congenital malformations among offspring of mixed race-ethnicity. METHODS: Using data from a population-based registry, we explored the occurrence of selected malformation phenotypes in offspring to parents who were of different race-ethnicity. Data were derived from the California Birth Defects Monitoring Program, a population-based active surveillance system for collecting information on infants and fetuses with congenital malformations using multiple source ascertainment. Approximately 2.6 million live births and stillbirths occurred during 1989-2000. Information on parental race-ethnicity (non-Hispanic white, Hispanic, black, and Asian) was obtained from birth certificates and fetal death files. Malformation phenotypes studied were spina bifida, anencephaly, cleft lip, cleft palate, tetralogy of Fallot, d-transposition of great arteries, hypospadias, small intestinal atresia, preaxial polydactyly, microtia, and hypertrophic pyloric stenosis. RESULTS: A total of 11.2% of births were to parents of mixed race-ethnicity. Compared to births of parents who were both white, moderately increased risks (risk ratio >/= 1.7) of anencephaly, polydactyly, and microtia, and decreased risks (risk ratio 相似文献   

Differential expression of long noncoding RNAs in congenital microtia

ObjectiveTo analyse lncRNA expression profiles in microtia using bioinformatics analysis.MethodsWe examined lncRNA expression profiles in residual ear cartilage and normal ear cartilage from individual congenital microtia patients.ResultsThe gene chips used in this study included 30586 lncRNAs and 26109 mRNA probes. Intotal, 180 lncRNAs with differential expression weredetected in the residual ear cartilage compared with the normal cartilage, including 74 up-regulated and 106down-regulated lncRNAs. Signalling pathway analysis highlighted glyceride metabolism, osteoclast differentiation, andtumour growth. The results of qRT-PCR analysis were consistent with those of themicroarray.ConclusionDifferential expression of lncRNAs occurs in microtia. These lncRNAs and related signalling pathways may play an important role in the occurrence and development ofmicrotia.     

Characterization of pediatric microtia cartilage: a reservoir of chondrocytes for auricular reconstruction using tissue engineering strategies

The external ear is composed of elastic cartilage. Microtia is a congenital malformation of the external ear that involves a small reduction in size or a complete absence. The aim of tissue engineering is to regenerate tissues and organs clinically implantable based on the utilization of cells and biomaterials. Remnants from microtia represent a source of cells for auricular reconstruction using tissue engineering. To examine the macromolecular architecture of microtia cartilage and behavior of chondrocytes, in order to enrich the knowledge of this type of cartilage as a cell reservoir. Auricular cartilage remnants were obtained from pediatric patients with microtia undergoing reconstructive procedures. Extracellular matrix composition was characterized using immunofluorescence and histological staining methods. Chondrocytes were isolated and expanded in vitro using a mechanical-enzymatic protocol. Chondrocyte phenotype was analyzed using qualitative PCR. Microtia cartilage preserves structural organization similar to healthy elastic cartilage. Extracellular matrix is composed of typical cartilage proteins such as type II collagen, elastin and proteoglycans. Chondrocytes displayed morphological features similar to chondrocytes derived from healthy cartilage, expressing SOX9, COL2 and ELN, thus preserving chondral phenotype. Cell viability was 94.6 % during in vitro expansion. Elastic cartilage from microtia has similar characteristics, both architectural and biochemical to healthy cartilage. We confirmed the suitability of microtia remnant as a reservoir of chondrocytes with potential to be expanded in vitro, maintaining phenotypical features and viability. Microtia remnants are an accessible source of autologous cells for auricular reconstruction using tissue engineering strategies.     

Congenital upper auricular detachment

A rare case of unilateral congenital ear deformity has been presented. The deformity is characterized by detachment and posterior rotation of the right upper auricle in an otherwise grossly normal auricle. We believe that this deformity may be related to defective mesenchymal fusion or accretion between the auricular hillocks of the hyoid and mandibular arches. Satisfactory correction was achieved by auricular repositioning with two triangular flaps.     

Treatment of preaxial polydactyly of the foot

Fourteen patients with preaxial polydactyly are classified into four types according to their morphologic configuration: type 1--ray duplication; type 2--completely duplicated phalanges; type 3--incompletely duplicated metatarsals; and type 4--incompletely duplicated phalanges. The surgical treatment and timing thereof appropriate for each group are discussed. Three cases of congenital hallux varus deformity are analyzed, focusing on the pathomechanism of this disorder. Based on our experience, two main factors are noticed in the etiology of congenital hallux varus deformity: inadequacy of the adductor hallucis and tightening of the fibrous band pulling the big toe into the varus.     

A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family

Microtia, a congenital deformity manifesting as an abnormally shaped or absent external ear, occurs in one out of 8,000-10,000 births. We ascertained a consanguineous Iranian family segregating with autosomal-recessive bilateral microtia, mixed symmetrical severe to profound hearing impairment, and partial cleft palate. Genome-wide linkage analysis localized the responsible gene to chromosome 7p14.3-p15.3 with a maximum multi-point LOD score of 4.17. In this region, homeobox genes from the HOXA cluster were the most interesting candidates. Subsequent DNA sequence analysis of the HOXA1 and HOXA2 homeobox genes from the candidate region identified an interesting HOXA2 homeodomain variant: a change in a highly conserved amino acid (p.Q186K). The variant was not found in 231 Iranian and 109 Belgian control samples. The critical contribution of HoxA2 for auditory-system development has already been shown in mouse models. We built a homology model to predict the effect of this mutation on the structure and DNA-binding activity of the homeodomain by using the program Modeler 8v2. In the model of the mutant homeodomain, the position of the mutant lysine side chain is consistently farther away from a nearby phosphate group; this altered position results in the loss of a hydrogen bond and affects the DNA-binding activity.