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1.
Rev Med Suisse ; 20(878): 1173-1177, 2024 Jun 12.
Artigo em Francês | MEDLINE | ID: mdl-38867563

RESUMO

Complex ear reconstruction requires specialized multidisciplinary care. Most patients present with microtia, often associated with hearing disorders. The management of these disorders is a priority, and reconstruction of the external ear remains optional. Nowadays, auricular reconstruction is based on the subcutaneous implantation of either autologous cartilage or an allogeneic implant. Autologous reconstruction requires highly specialized surgical expertise and involves harvesting rib cartilage but carries a lower risk of exposure compared to allogeneic implants. Both techniques yield good results with a high success rate and have a positive impact on the social functioning and daily life of patients.


La reconstruction complexe du pavillon auriculaire nécessite une prise en charge multidisciplinaire spécialisée. La majorité des patients nécessitant ce geste présentent une microtie, souvent associée à des troubles de l'audition. La prise en charge de ceux-ci est prioritaire et la reconstruction du pavillon reste facultative. Aujourd'hui, la reconstruction du pavillon se base sur l'implantation sous-cutanée d'une maquette de cartilage autologue ou d'un implant allogène. La reconstruction autologue demande une expertise chirurgicale hautement spécialisée et nécessite un prélèvement de cartilage costal mais présente un risque d'exposition inférieur par rapport à l'implant allogène. Les deux techniques permettent d'atteindre de bons résultats avec un taux de réussite élevé et un effet positif sur le fonctionnement social et le quotidien des patients.


Assuntos
Procedimentos de Cirurgia Plástica , Humanos , Procedimentos de Cirurgia Plástica/métodos , Orelha Externa/anormalidades , Orelha Externa/cirurgia , Microtia Congênita/cirurgia , Microtia Congênita/terapia , Transplante Autólogo/métodos , Cartilagem/transplante , Próteses e Implantes
2.
J Cell Mol Med ; 28(11): e18443, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38837873

RESUMO

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.


Assuntos
Movimento Celular , Condrócitos , Microtia Congênita , Proteína 1 Indutora de Invasão e Metástase de Linfoma de Células T , Proteínas rac1 de Ligação ao GTP , Animais , Feminino , Humanos , Masculino , Camundongos , Condrócitos/metabolismo , Condrócitos/citologia , Microtia Congênita/metabolismo , Microtia Congênita/genética , Microtia Congênita/patologia , Modelos Animais de Doenças , Proteínas rac1 de Ligação ao GTP/metabolismo , Proteína 1 Indutora de Invasão e Metástase de Linfoma de Células T/metabolismo , Proteína 1 Indutora de Invasão e Metástase de Linfoma de Células T/genética
3.
Orphanet J Rare Dis ; 19(1): 218, 2024 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-38802922

RESUMO

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.


Assuntos
Microtia Congênita , Estresse Oxidativo , Humanos , Microtia Congênita/genética , Microtia Congênita/metabolismo , Estresse Oxidativo/genética , Proteômica , Masculino , Feminino , Condrócitos/metabolismo , Condrócitos/patologia , Multiômica
4.
Sci Rep ; 14(1): 10191, 2024 05 03.
Artigo em Inglês | MEDLINE | ID: mdl-38702362

RESUMO

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.


Assuntos
Microtia Congênita , Eletrocardiografia , Humanos , Microtia Congênita/epidemiologia , Masculino , Feminino , Estudos Retrospectivos , Adolescente , Criança , Adulto , Adulto Jovem , Incidência , Arritmias Cardíacas/epidemiologia , Arritmias Cardíacas/fisiopatologia , China/epidemiologia
5.
J Craniofac Surg ; 35(4): 1214-1218, 2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38710037

RESUMO

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.


Assuntos
Desenho Assistido por Computador , Microtia Congênita , Humanos , Microtia Congênita/cirurgia , Inteligência Artificial , Mineração de Dados , Realidade Aumentada , Tomografia Computadorizada por Raios X , Realidade Virtual , Cirurgia Assistida por Computador/métodos
6.
Elife ; 122024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38690987

RESUMO

Elastic cartilage constitutes a major component of the external ear, which functions to guide sound to the middle and inner ears. Defects in auricle development cause congenital microtia, which affects hearing and appearance in patients. Mutations in several genes have been implicated in microtia development, yet, the pathogenesis of this disorder remains incompletely understood. Here, we show that Prrx1 genetically marks auricular chondrocytes in adult mice. Interestingly, BMP-Smad1/5/9 signaling in chondrocytes is increasingly activated from the proximal to distal segments of the ear, which is associated with a decrease in chondrocyte regenerative activity. Ablation of Bmpr1a in auricular chondrocytes led to chondrocyte atrophy and microtia development at the distal part. Transcriptome analysis revealed that Bmpr1a deficiency caused a switch from the chondrogenic program to the osteogenic program, accompanied by enhanced protein kinase A activation, likely through increased expression of Adcy5/8. Inhibition of PKA blocked chondrocyte-to-osteoblast transformation and microtia development. Moreover, analysis of single-cell RNA-seq of human microtia samples uncovered enriched gene expression in the PKA pathway and chondrocyte-to-osteoblast transformation process. These findings suggest that auricle cartilage is actively maintained by BMP signaling, which maintains chondrocyte identity by suppressing osteogenic differentiation.


Assuntos
Condrócitos , Microtia Congênita , Proteínas Quinases Dependentes de AMP Cíclico , Transdução de Sinais , Animais , Condrócitos/metabolismo , Microtia Congênita/genética , Microtia Congênita/metabolismo , Camundongos , Proteínas Quinases Dependentes de AMP Cíclico/metabolismo , Proteínas Quinases Dependentes de AMP Cíclico/genética , Proteínas Morfogenéticas Ósseas/metabolismo , Proteínas Morfogenéticas Ósseas/genética , Humanos , Receptores de Proteínas Morfogenéticas Ósseas Tipo I/metabolismo , Receptores de Proteínas Morfogenéticas Ósseas Tipo I/genética , Condrogênese/genética , Proteínas de Homeodomínio/metabolismo , Proteínas de Homeodomínio/genética
7.
J Plast Reconstr Aesthet Surg ; 94: 62-71, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38763056

RESUMO

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. CONCLUSION: 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.


Assuntos
Microtia Congênita , Programas Nacionais de Saúde , Procedimentos de Cirurgia Plástica , Humanos , Microtia Congênita/cirurgia , Microtia Congênita/economia , Masculino , Feminino , China , Estudos Retrospectivos , Procedimentos de Cirurgia Plástica/economia , Procedimentos de Cirurgia Plástica/métodos , Criança , Programas Nacionais de Saúde/economia , Adolescente , Adulto , Expansão de Tecido/economia , Adulto Jovem , Pré-Escolar , Cobertura do Seguro/economia , Cobertura do Seguro/estatística & dados numéricos
8.
J Plast Reconstr Aesthet Surg ; 94: 128-140, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38781833

RESUMO

BACKGROUND: Autologous costal cartilage has gained widespread acceptance as an important material for ear reconstruction in patients with microtia. Despite its recognition as being "worth the trade-off," attention should be directed toward donor-site deformities. This systematic review focused on existing English literature related to microtia reconstruction and aimed to reveal the incidence of chest wall deformities and assess the effectiveness of the various proposed surgical techniques aimed at reducing donor-site morbidities. METHODS: A comprehensive search was conducted on Pubmed and OVID using the keywords "microtia," and "chest deformity" or "rib harvest." Articles were screened based on predefined inclusion and exclusion criteria. Data acquisition encompassed patient demographics, employed surgical techniques, methods for evaluating chest deformity, and incidence of associated complications. RESULTS: Among the 362 identified articles, 21 met the inclusion criteria. A total of 2600 cases involving 2433 patients with microtia were analyzed in this review. Perichondrium preservation during cartilage harvesting led to a significant reduction in chest deformities. However, the wide incidence range (0% to 50%) and the lack of specific assessment methods suggested potential underestimation. Computed tomography revealed reduced chest wall growth in the transverse and sagittal directions, resulting in decreased thoracic area. Innovative surgical techniques have shown promising results in reducing chest deformities. CONCLUSIONS: Although a quantitative analysis was not feasible, objective evidence of deformities was established through computed tomography scans. This analysis highlighted the need for dedicated studies with larger sample sizes to further advance our understanding of chest wall deformities in microtia reconstruction.


Assuntos
Microtia Congênita , Cartilagem Costal , Procedimentos de Cirurgia Plástica , Transplante Autólogo , Humanos , Microtia Congênita/cirurgia , Cartilagem Costal/transplante , Procedimentos de Cirurgia Plástica/métodos , Procedimentos de Cirurgia Plástica/efeitos adversos , Transplante Autólogo/efeitos adversos , Parede Torácica/cirurgia , Parede Torácica/anormalidades , Sítio Doador de Transplante/cirurgia , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/cirurgia , Costelas/cirurgia , Costelas/anormalidades
9.
Artigo em Chinês | MEDLINE | ID: mdl-38686480

RESUMO

The difficulty of cochlear implantation in patients with congenital microtia is usually increased due to the vague anatomical marks and facial nerve malformation. The common types of facial nerve malformation include facial nerve bony cover loss, aberrant position, and bifurcation malformation. Bifurcation malformation may obscure the oval window, press against stapes, and bifurcate in the vestibular window while obscuring the round window. It is important to correctly identify the facial nerve and choose a reasonable surgical approach to avoid postoperative complications. This article describes a case of profound sensorineural hearing loss due to facial nerve malformation in our institution. The patient underwent cochlear implantation through the retro-facial approach. There was no facial nerve injury or dysfunction symptoms such as facial paralysis and hemifacial spasm 2 years after the operation, and the cochlear implant works well. The score of the categories of the auditory performance(CAP) questionnaire was 7, and the score of the speech intelligibility rating(SIR) questionnaire was 4. When the round window cannot be exposed through the facial recess approach during surgery, the retro-facial approach is a feasible method. To avoid facial nerve injury, a thin-section CT of the temporal bone should be performed before the middle and inner ear surgery for patients with facial nerve malformation, and the intraoperative facial nerve monitor should be used to clarify the course of the facial nerve to avoid injury.


Assuntos
Implante Coclear , Microtia Congênita , Nervo Facial , Humanos , Implante Coclear/métodos , Microtia Congênita/cirurgia , Nervo Facial/anormalidades , Nervo Facial/cirurgia , Perda Auditiva Neurossensorial/cirurgia , Osso Temporal/anormalidades , Osso Temporal/cirurgia
10.
Am J Audiol ; 33(2): 503-509, 2024 Jun 04.
Artigo em Inglês | MEDLINE | ID: mdl-38668691

RESUMO

PURPOSE: The association between microtia severity and hearing function has been thoroughly investigated. This study examined the relationship between microtia grade, number of ear subunits (i.e., helix, antihelix, scapha, triangularis fossa, concha, lobule, tragus, and antitragus) with auditory brainstem response (ABR) findings in children with microtia. STUDY DESIGN: A retrospective chart review was employed in this study. METHOD: We analyzed the ABR test results and photographs of 22 children with 30 microtia ears at Dr. Cipto Mangunkusumo National Hospital, Jakarta. The ABR test results were acquired using click (air conduction only) and 500-Hz tone burst stimuli (air- and bone-conduction). Ear photographs were overlaid with a template of a normal ear to determine the number of ear subunits present and the subsequent microtia grade. Number of ear subunits and ABR results were analyzed using the chi-square, Mann-Whitney U, and Spearman's correlation tests. RESULTS: ABR thresholds for click and 500-Hz tone bursts air-conduction were significantly poorer for ears with a subunit < 5 compared to ears with a subunit ≥ 5. No significant difference was observed in 500 Hz bone-conduction ABR thresholds between these groups. Correlation analysis showed a significant negative correlation between increased ear subunits and click ABR thresholds. No significant correlation was found between ear subunits and 500-Hz air- and bone-conduction ABR thresholds. CONCLUSIONS: A higher number of ear subunits are associated with a lower hearing threshold, as assessed using ABR with click stimuli. Therefore, the number of ear subunits and microtia grades can be used to examine the hearing level thresholds in infants and children with microtia. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.25669440.


Assuntos
Microtia Congênita , Potenciais Evocados Auditivos do Tronco Encefálico , Humanos , Microtia Congênita/fisiopatologia , Masculino , Criança , Feminino , Potenciais Evocados Auditivos do Tronco Encefálico/fisiologia , Estudos Retrospectivos , Pré-Escolar , Limiar Auditivo , Adolescente , Índice de Gravidade de Doença , Orelha/anormalidades , Orelha/fisiopatologia
11.
Medicine (Baltimore) ; 103(15): e37691, 2024 Apr 12.
Artigo em Inglês | MEDLINE | ID: mdl-38608109

RESUMO

To describe the epidemiology of congenital malformations of the external ear (CMEE). Data were obtained from the Birth Defects Surveillance System in Hunan Province, China, 2016 to 2020. The prevalence of CMEEs is defined as the number of cases per 1000 fetuses (births and deaths at 28 weeks of gestation and beyond) (unit: ‰). Prevalence and 95% confidence intervals (CI) were calculated by the log-binomial method. Chi-square trend tests (χ2trend) were used to determine trends in prevalence by year. P < .05 was considered statistically significant. Crude odds ratios (ORs) were calculated to examine the association of sex, residence, and maternal age with CMEEs. Our study included 847,755 fetuses, and 14,459 birth defects were identified, including 1227 CMEEs (accounted for 8.49% of birth defects). The prevalences of birth defects and CMEEs were 17.06‰ (95%CI: 16.78-17.33) and 1.45‰ (95%CI: 1.37-1.53), respectively. A total of 185 microtia-anotias were identified, accounting for 15.08% of CMEEs, with a prevalence of 0.22‰ (95%CI: 0.19-0.25). And 1042 other CMEEs were identified, accounting for 84.92% of CMEEs. From 2016 to 2020, the prevalences of birth defects were 18.20‰, 18.00‰, 16.31‰, 16.03‰, and 16.47‰, respectively, showing a downward trend (χ2trend =8.45, P < .01); the prevalences of CMEEs were 1.19‰, 1.62‰, 1.80‰, 1.21‰, and 1.35‰, respectively, with no significant trend (χ2trend =0.09, P = .77). CMEEs were more common in males than females (1.60‰ vs 1.27‰, OR = 1.26, 95%CI: 1.12-1.41), in urban areas than in rural areas (1.77‰ vs 1.23‰, OR = 1.45, 95%CI: 1.29-1.62). The prevalences of CMEEs for maternal age < 20, 20-24, 25-29, 30-34, and ≥ 35 were 1.75‰, 1.27‰, 1.44‰, 1.47‰, and 1.58‰, respectively, with no significant difference (P > .05, reference: 25-29). Most CMEEs were diagnosed by clinical examinations (92.34%), and most CMEEs were diagnosed postpartum (within 7 days) (96.25%). In summary, we have presented the epidemiology of CMEEs in Hunan Province, China. CMEEs were more common in males than females, in urban areas than rural areas, whereas there was no significant difference in prevalence of CMEEs by maternal age. We inferred that CMEEs may be mainly related to genetics, and the mechanism needs to be examined in the future.


Assuntos
Microtia Congênita , Feminino , Masculino , Humanos , China/epidemiologia , Orelha Externa , Feto , Idade Materna
12.
J Plast Reconstr Aesthet Surg ; 92: 237-243, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38574570

RESUMO

BACKGROUND: The presence of polyotia in individuals with microtia is a rare deformity. Due to the intricate structure of the auricle, uncertain etiology, and challenging corrective techniques, it has always been a focal point in the field of plastic surgery. The present study presents a technique for correcting the combination of polyotia and microtia by utilizing residual ear tissue as graft material. METHODS: The retrospective study included 23 patients with polyotia and microtia from 2018 to 2022. The residual ear tissue was used to rectify auricular deformities in all patients. The patients were instructed to evaluate the satisfaction of the auricle shape using a visual analog scale (VAS) both before and 6 months after the surgical procedure. The esthetic outcomes of auricle subunits were simultaneously assessed by a senior physician pre- and postoperatively. RESULTS: The mean duration of follow-up in this study was 8.73 months. The preoperative VAS satisfaction score was recorded as 2.26 ± 0.86, while the post-operative VAS score significantly increased to 7.86 ± 0.86. The preoperative auricle esthetic outcomes score was recorded as 9.95 ± 1.74, while the post-operative score significantly increased to 24.04 ± 2.16. The follow-up period did not present any cases of flap necrosis, hematoma, infection, or wound dehiscence. CONCLUSION: The study demonstrates that comprehensive utilization of residual auricular tissue can lead to optimal outcomes in correcting polyotia with concha-type microtia. The utilization of residual ear tissue can be maximized to streamline the operation, minimize bodily harm, and enhance patient satisfaction.


Assuntos
Microtia Congênita , Pavilhão Auricular , Procedimentos de Cirurgia Plástica , Humanos , Microtia Congênita/cirurgia , Masculino , Estudos Retrospectivos , Feminino , Procedimentos de Cirurgia Plástica/métodos , Criança , Adolescente , Pavilhão Auricular/cirurgia , Pavilhão Auricular/anormalidades , Satisfação do Paciente , Estética , Adulto Jovem , Adulto , Orelha Externa/cirurgia , Orelha Externa/anormalidades
13.
Plast Reconstr Surg ; 153(5): 1011e-1021e, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38657012

RESUMO

LEARNING OBJECTIVES: After studying this article, the participant should be able to: 1. Understand principles of preoperative planning for microtia repair. 2. Understand key techniques for flap design, skin envelope dissection, framework creation, and donor-site reconstruction. 3. Describe important components of postoperative management. SUMMARY: Total auricular construction remains a challenge for reconstructive surgeons. This article describes current surgical strategies and advancements for microtia construction. The authors' focus is to describe the several keys for success that are useful for young surgeons who wish to train themselves to create satisfactory results.


Assuntos
Microtia Congênita , Procedimentos de Cirurgia Plástica , Retalhos Cirúrgicos , Humanos , Microtia Congênita/cirurgia , Pavilhão Auricular/cirurgia , Pavilhão Auricular/anormalidades , Procedimentos de Cirurgia Plástica/métodos , Retalhos Cirúrgicos/transplante
14.
J Plast Reconstr Aesthet Surg ; 93: 62-69, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38663166

RESUMO

INTRODUCTION: The EAR-Q is a rigorously validated patient-reported outcome measure, which evaluates ear appearance and health-related quality of life (HRQL) in patients with congenital or acquired ear conditions. The aim of this study was to conduct an exploratory analysis to examine the factors associated with EAR-Q appearance and HRQL scale scores. METHODS: In this study, 862 participants, aged 8-29 years, with congenital or acquired ear conditions, completed the EAR-Q as part of an international field-test study. Patients responded to demographic and clinical questions as well as the EAR-Q. Univariable and multivariable linear regression analyses were used to determine factors that were significant predictors for the scores on the EAR-Q Appearance, Psychological, and Social scales. RESULTS: Most participants were men (57.4%), awaiting treatment (55.0%), and had a microtia diagnosis (70.4%), with a mean age of 13 (±4) years. Worse ear appearance scores (p < 0.02) were associated with male gender, microtia, no history of treatment, ear surgery within 6 months, unilateral involvement, and greater self-reported ear asymmetry. Decreased psychological scores (p < 0.01) were associated with increasing participant age, no treatment history, recent ear surgery, and dissatisfaction with ears matching or overall dissatisfaction. Lower social scores (p ≤ 0.04) were associated with no treatment history, those awaiting surgery, ear surgery within the last 6 months, bilateral involvement, and self-reported ears matching or overall appearance. CONCLUSION: This analysis identified patient factors that may influence ear appearance and HRQL scale scores. These findings provide evidence of patient factors that should be adjusted for when undertaking future observational research designs using the EAR-Q in this patient population.


Assuntos
Medidas de Resultados Relatados pelo Paciente , Qualidade de Vida , Humanos , Masculino , Feminino , Adolescente , Estudos Transversais , Criança , Adulto , Adulto Jovem , Deformidades Adquiridas da Orelha/cirurgia , Deformidades Adquiridas da Orelha/psicologia , Microtia Congênita/cirurgia , Microtia Congênita/psicologia
15.
Stem Cells ; 42(6): 554-566, 2024 Jun 14.
Artigo em Inglês | MEDLINE | ID: mdl-38613477

RESUMO

Microtia is a congenital auricle dysplasia with a high incidence and tissue engineering technology provides a promising strategy to reconstruct auricles. We previously described that the engineered cartilage constructed from microtia chondrocytes exhibited inferior levels of biochemical and biomechanical properties, which was proposed to be resulted of the decreased migration ability of microtia chondrocytes. In the current study, we found that Rho GTPase members were deficient in microtia chondrocytes. By overexpressing RhoA, Rac1, and CDC42, respectively, we further demonstrated that RhoA took great responsibility for the decreased migration ability of microtia chondrocytes. Moreover, we constructed PGA/PLA scaffold-based cartilages to verify the chondrogenic ability of RhoA overexpressed microtia chondrocytes, and the results showed that overexpressing RhoA was of limited help in improving the quality of microtia chondrocyte engineered cartilage. However, coculture of adipose-derived stem cells (ADSCs) significantly improved the biochemical and biomechanical properties of engineered cartilage. Especially, coculture of RhoA overexpressed microtia chondrocytes and ADSCs produced an excellent effect on the wet weight, cartilage-specific extracellular matrix, and biomechanical property of engineered cartilage. Furthermore, we presented that coculture of RhoA overexpressed microtia chondrocytes and ADSCs combined with human ear-shaped PGA/PLA scaffold and titanium alloy stent fabricated by CAD/CAM and 3D printing technology effectively constructed and maintained auricle structure in vivo. Collectively, our results provide evidence for the essential role of RhoA in microtia chondrocytes and a developed strategy for the construction of patient-specific tissue-engineered auricular cartilage.


Assuntos
Condrócitos , Técnicas de Cocultura , Microtia Congênita , Engenharia Tecidual , Proteína rhoA de Ligação ao GTP , Condrócitos/metabolismo , Condrócitos/citologia , Humanos , Engenharia Tecidual/métodos , Proteína rhoA de Ligação ao GTP/metabolismo , Proteína rhoA de Ligação ao GTP/genética , Microtia Congênita/metabolismo , Microtia Congênita/genética , Cartilagem da Orelha/citologia , Cartilagem da Orelha/metabolismo , Células-Tronco/metabolismo , Células-Tronco/citologia , Tecido Adiposo/citologia , Tecido Adiposo/metabolismo , Condrogênese/genética , Masculino , Alicerces Teciduais/química , Feminino
16.
Orphanet J Rare Dis ; 19(1): 152, 2024 Apr 09.
Artigo em Inglês | MEDLINE | ID: mdl-38594752

RESUMO

BACKGROUND: Microtia is a congenital ear malformation that can occur as isolated microtia or as part of a syndrome. The etiology is currently poorly understood, although there is strong evidence that genetics has a role in the occurrence of microtia. This systematic review aimed to determine the genes involved and the abnormalities in microtia patients' head and neck regions. METHODS: We used seven search engines to search all known literature on the genetic and phenotypic variables associated with the development or outcome of microtia. The identified publications were screened and selected based on inclusion and exclusion criteria and assessed for methodological quality using the Joanna Briggs Institute (JBI) critical appraisal tools. We found 40 papers in this systematic review with phenotypic data in microtia involving 1459 patients and 30 articles containing genetic data involved in microtia. RESULT: The most common accompanying phenotype of all microtia patients was external ear canal atresia, while the most common head and neck abnormalities were the auricular, mental, and oral regions. The most common syndrome found was craniofacial microsomia syndrome. In the syndromic microtia group, the most common genes were TCOF1 (43.75%), SIX2 (4.69%), and HSPA9 (4.69%), while in the non-syndromic microtia group, the most frequently found gene was GSC exon 2 (25%), FANCB (16.67%), HOXA2 (8.33%), GSC exon 3 (8.33%), MARS1 (8.33%), and CDT1 (8.33%). CONCLUSIONS: Our systematic review shows some genes involved in the microtia development, including TCOF1, SIX2, HSPA9, GSC exon 2, FANCB, HOXA2, GSC exon 3, MARS1, and CDT1 genes. We also reveal a genotype-phenotype association in microtia. In addition, further studies with more complete and comprehensive data are needed, including patients with complete data on syndromes, phenotypes, and genotypes.


Assuntos
Microtia Congênita , Humanos , Microtia Congênita/genética , Proteínas de Homeodomínio/genética , Orelha/anormalidades , Fenótipo , Síndrome , Estudos de Associação Genética
17.
J Craniofac Surg ; 35(4): e333-e336, 2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38534171

RESUMO

OBJECTIVE: To evaluate whether early systematic nursing can reduce the occurrence of postoperative nonstructural scoliosis in patients undergoing ear reconstruction. METHODS: A total of 136 patients with congenital microtia who underwent ear reconstruction surgery at the Department of Plastic Surgery, Chinese Academy of Medical Sciences from, January 2022 to July 2022 were included as study subjects. They were randomly divided into a routine nursing group and a systematic nursing group. After preoperative and postoperative education, as well as continuous follow-up intervention after surgery, spinal CT three-dimensional imaging examination was performed 6 months later to measure the Cobb angle and observe the occurrence of spinal scoliosis. RESULTS: Compared with the routine nursing group, the incidence and severity of postoperative nonstructural scoliosis were significantly reduced in patients who received systematic nursing. CONCLUSIONS: Systematic nursing intervention for patients undergoing ear reconstruction can help prevent the occurrence of postoperative nonstructural scoliosis and has a positive effect on improving patient prognosis. It is worth promoting in clinical treatment.


Assuntos
Microtia Congênita , Procedimentos de Cirurgia Plástica , Complicações Pós-Operatórias , Escoliose , Humanos , Escoliose/cirurgia , Feminino , Masculino , Complicações Pós-Operatórias/prevenção & controle , Procedimentos de Cirurgia Plástica/métodos , Microtia Congênita/cirurgia , Adolescente , Criança , Adulto , Adulto Jovem , Incidência
18.
J Plast Reconstr Aesthet Surg ; 92: 145-150, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38518626

RESUMO

BACKGROUND: Lobule transposition, a common procedure in auricle reconstruction, has been successfully performed over the past few decades. However, the transposition methods for unilateral microtia with evident asymmetry of bilateral earlobe positions still remain a challenge. The objective of this study was to investigate the application of prograde transposition for anteriorly low-set earlobes. METHOD: A total of 25 patients with lobule-type microtia with anteriorly low-set residual earlobe underwent prograde transposition during auricle reconstruction between 2020 and 2022. The post-operative earlobe aesthetic assessment and patient satisfaction were evaluated, and the data on any complications that occurred when followed-up were collected. This study provides a comprehensive analysis and summary of the techniques used in earlobe transposition for auricular reconstruction. RESULTS: The patients with evident asymmetry between the residual and healthy earlobes were usually concomitant with hemifacial microsomia and the residual ear was located in the anterior and lower region. No instances of flap necrosis, hematoma, or wound dehiscence were observed following auricular reconstruction. The mean aesthetic score of the auricle was 3.52, with 23 patients attaining good or excellent aesthetic outcomes. The mean Visual Analog Scale satisfaction score was 3.68, with 24 patients reporting relative satisfaction or satisfaction. CONCLUSION: The prograde transposition of anteriorly low-set earlobe in lobule-type microtia reconstruction can effectively ensure adequate blood supply, enhance aesthetic appearance, and significantly improve patient satisfaction.


Assuntos
Microtia Congênita , Pavilhão Auricular , Estética , Satisfação do Paciente , Procedimentos de Cirurgia Plástica , Humanos , Microtia Congênita/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Masculino , Feminino , Adolescente , Criança , Pavilhão Auricular/cirurgia , Pavilhão Auricular/anormalidades , Retalhos Cirúrgicos , Adulto Jovem , Adulto , Orelha Externa/cirurgia , Orelha Externa/anormalidades
19.
Int J Pediatr Otorhinolaryngol ; 179: 111905, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38493660

RESUMO

OBJECTIVES: The primary problem in simultaneous bilateral auricle reconstruction is the fragility of the reconstructed ear structure. Postoperative pressure is strictly prohibited to ensure the operation's effectiveness. The study aimed to summarize the experience of perioperative postural management in simultaneous bilateral auricular reconstruction. METHOD: This study summarizes the experience of perioperative postural management, providing preoperative sleeping posture adaptability training, neck movement training, standardization of the head position angles and the head suspension time in surgery, using protective headrests, paying attention to the transfer and handover procedures, and using specially designed pillows. RESULTS: The comprehensive nursing approach in simultaneous bilateral auricular reconstruction significantly reduced complications, improved patient comfort, and optimized postoperative adaptation. Preoperative posture training, standardized intraoperative head positions, and vigilant postoperative care played pivotal roles, demonstrating positive outcomes in 46 cases. DISCUSSION: Perioperative position management can reduce the risk of complications and pressure injuries, improving patients' postoperative comfort, emotional state, tolerance, and adaptability. CONCLUSION: All ears were viable and in good shape after long-term follow-up. The experiences discussed in this study can be broadly applied to technically mature ear reconstruction teams.


Assuntos
Microtia Congênita , Pavilhão Auricular , Procedimentos de Cirurgia Plástica , Humanos , Procedimentos de Cirurgia Plástica/efeitos adversos , Orelha Externa/cirurgia , Cuidados Pós-Operatórios , Período Pós-Operatório , Pavilhão Auricular/cirurgia , Microtia Congênita/cirurgia
20.
Gene ; 909: 148307, 2024 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-38395239

RESUMO

Sheep congenital microtia is characterized by underdeveloped ears and provides an ideal basis for studying human microtia. This study identified the causal mutation and regulatory mechanisms underlying this disorder. Whole-genome association analysis was conducted using 23 ear tissue samples from sheep with microtia and 28 samples from normal-eared sheep. A significant correlation was found between microtia and a 76-base pair duplication in the enhancer region of the HMX1 gene. Further analysis of offspring phenotypes confirmed an autosomal dominant inheritance pattern. Genotypic analysis showed that individuals that are homozygous for this duplication were earless, heterozygous individuals exhibited shortened ears, and wild-type individuals had normal ears. Moreover, luciferase assays confirmed that this duplication increased HMX1 gene expression, and duplication knock-in mice also exhibited shorter and narrower external ears compared to wild-type mice. Transcriptomic analysis further demonstrated that this duplication enhanced HMX1 gene expression in animal models. This study characterized the causal regulatory mutation underlying sheep microtia.


Assuntos
Microtia Congênita , Ovinos/genética , Humanos , Animais , Camundongos , Microtia Congênita/genética , Pareamento de Bases , Genes Homeobox , Sequências Reguladoras de Ácido Nucleico , Fenótipo
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