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1.
Mol Cell ; 73(3): 562-573.e3, 2019 02 07.
Artigo em Inglês | MEDLINE | ID: mdl-30595439

RESUMO

Across eukaryotes, disruption of DNA replication causes an S phase checkpoint response, which regulates multiple processes, including inhibition of replication initiation and fork stabilization. How these events are coordinated remains poorly understood. Here, we show that the replicative helicase component Cdc45 targets the checkpoint kinase Rad53 to distinct replication complexes in the budding yeast Saccharomyces cerevisiae. Rad53 binds to forkhead-associated (FHA) interaction motifs in an unstructured loop region of Cdc45, which is phosphorylated by Rad53 itself, and this interaction is necessary for the inhibition of origin firing through Sld3. Cdc45 also recruits Rad53 to stalled replication forks, which we demonstrate is important for the response to replication stress. Finally, we show that a Cdc45 mutation found in patients with Meier-Gorlin syndrome disrupts the functional interaction with Rad53 in yeast. Together, we present a single mechanism by which a checkpoint kinase targets replication initiation and elongation complexes, which may be relevant to human disease.


Assuntos
Proteínas de Ciclo Celular/metabolismo , Quinase do Ponto de Checagem 2/metabolismo , Dano ao DNA , Reparo do DNA , Replicação do DNA , DNA Fúngico/biossíntese , Proteínas de Ligação a DNA/metabolismo , Proteínas Nucleares/metabolismo , Proteínas de Saccharomyces cerevisiae/metabolismo , Saccharomyces cerevisiae/enzimologia , Proteínas de Ciclo Celular/genética , Quinase do Ponto de Checagem 2/genética , Microtia Congênita/enzimologia , Microtia Congênita/genética , DNA Fúngico/genética , Proteínas de Ligação a DNA/genética , Transtornos do Crescimento/enzimologia , Transtornos do Crescimento/genética , Humanos , Micrognatismo/enzimologia , Micrognatismo/genética , Mutação , Proteínas Nucleares/genética , Patela/anormalidades , Patela/enzimologia , Fosforilação , Ligação Proteica , Pontos de Checagem da Fase S do Ciclo Celular , Saccharomyces cerevisiae/genética , Saccharomyces cerevisiae/crescimento & desenvolvimento , Proteínas de Saccharomyces cerevisiae/genética
2.
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
3.
Nucleic Acids Res ; 51(18): 9748-9763, 2023 Oct 13.
Artigo em Inglês | MEDLINE | ID: mdl-37638758

RESUMO

Faithful cell division is the basis for the propagation of life and DNA replication must be precisely regulated. DNA replication stress is a prominent endogenous source of genome instability that not only leads to ageing, but also neuropathology and cancer development in humans. Specifically, the issues of how vertebrate cells select and activate origins of replication are of importance as, for example, insufficient origin firing leads to genomic instability and mutations in replication initiation factors lead to the rare human disease Meier-Gorlin syndrome. The mechanism of origin activation has been well characterised and reconstituted in yeast, however, an equal understanding of this process in higher eukaryotes is lacking. The firing of replication origins is driven by S-phase kinases (CDKs and DDK) and results in the activation of the replicative helicase and generation of two bi-directional replication forks. Our data, generated from cell-free Xenopus laevis egg extracts, show that DONSON is required for assembly of the active replicative helicase (CMG complex) at origins during replication initiation. DONSON has previously been shown to be essential during DNA replication, both in human cells and in Drosophila, but the mechanism of DONSON's action was unknown. Here we show that DONSON's presence is essential for replication initiation as it is required for Cdc45 and GINS association with Mcm2-7 complexes and helicase activation. To fulfil this role, DONSON interacts with the initiation factor, TopBP1, in a CDK-dependent manner. Following its initiation role, DONSON also forms a part of the replisome during the elongation stage of DNA replication. Mutations in DONSON have recently been shown to lead to the Meier-Gorlin syndrome; this novel replication initiation role of DONSON therefore provides the explanation for the phenotypes caused by DONSON mutations in patients.


Assuntos
Microtia Congênita , Transtornos do Crescimento , Micrognatismo , Patela , Humanos , Proteínas de Ciclo Celular/genética , Proteínas de Ciclo Celular/metabolismo , Cromatina/metabolismo , Microtia Congênita/genética , Quinases Ciclina-Dependentes/genética , Replicação do DNA/genética , Transtornos do Crescimento/genética , Micrognatismo/genética , Proteínas de Manutenção de Minicromossomo/metabolismo , Patela/anormalidades , Origem de Replicação/genética , Saccharomyces cerevisiae/genética , Proteínas de Saccharomyces cerevisiae/genética
4.
Proc Natl Acad Sci U S A ; 119(21): e2203928119, 2022 05 24.
Artigo em Inglês | MEDLINE | ID: mdl-35584116

RESUMO

Microtia is a congenital malformation that encompasses mild hypoplasia to complete loss of the external ear, or pinna. Although the contribution of genetic variation and environmental factors to microtia remains elusive, Amerindigenous populations have the highest reported incidence. Here, using both transmission disequilibrium tests and association studies in microtia trios (parents and affected child) and microtia cohorts enrolled in Latin America, we map an ∼10-kb microtia locus (odds ratio = 4.7; P = 6.78e-18) to the intergenic region between Roundabout 1 (ROBO1) and Roundabout 2 (ROBO2) (chr3: 78546526 to 78555137). While alleles at the microtia locus significantly increase the risk of microtia, their penetrance is low (<1%). We demonstrate that the microtia locus contains a polymorphic complex repeat element that is expanded in affected individuals. The locus is located near a chromatin loop region that regulates ROBO1 and ROBO2 expression in induced pluripotent stem cell­derived neural crest cells. Furthermore, we use single nuclear RNA sequencing to demonstrate ROBO1 and ROBO2 expression in both fibroblasts and chondrocytes of the mature human pinna. Because the microtia allele is enriched in Amerindigenous populations and is shared by some East Asian subjects with craniofacial malformations, we propose that both populations share a mutation that arose in a common ancestor prior to the ancient migration of Eurasian populations into the Americas and that the high incidence of microtia among Amerindigenous populations reflects the population bottleneck that occurred during the migration out of Eurasia.


Assuntos
Indígena Americano ou Nativo do Alasca , Microtia Congênita , Microtia Congênita/genética , Orelha Externa , Efeito Fundador , Humanos , Mutação , Proteínas do Tecido Nervoso/genética , Receptores Imunológicos/genética , Indígena Americano ou Nativo do Alasca/genética , Proteínas Roundabout
5.
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
6.
Clin Genet ; 106(3): 342-346, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38773883

RESUMO

Meier-Gorlin syndrome (MGORS) is an autosomal recessive disorder characterized by short stature, microtia, and patellar hypoplasia, and is caused by pathogenic variants of cellular factors involved in the initiation of DNA replication. We previously reported that biallelic variants in GINS3 leading to amino acid changes at position 24 (p.Asp24) cause MGORS. Here, we describe the phenotype of a new individual homozygous for the Asp24Asn variant. We also report the clinical characteristics of an individual harboring a novel homozygous GINS3 variant (Ile25Phe) and features suggestive of MGORS. Modification of the corresponding residue in yeast Psf3 (Val9Phe) compromised S phase progression compared to a humanized Psf3 Val9Ile variant. Expression of Psf3 Val9Phe in yeast also caused sensitivity to elevated temperature and the replicative stress-inducing drug hydroxyurea, confirming partial loss of function of this variant in vivo and allowing us to upgrade the classification of this variant. Taken together, these data validate the critical importance of the GINS DNA replication complex in the molecular etiology of MGORS.


Assuntos
Microtia Congênita , Transtornos do Crescimento , Patela , Criança , Feminino , Humanos , Masculino , Proteínas Cromossômicas não Histona/genética , Microtia Congênita/genética , Replicação do DNA/genética , Transtornos do Crescimento/genética , Transtornos do Crescimento/patologia , Homozigoto , Instabilidade Articular/genética , Instabilidade Articular/patologia , Micrognatismo/genética , Mutação , Nariz/anormalidades , Nariz/patologia , Patela/anormalidades , Patela/patologia , Fenótipo , Saccharomyces cerevisiae/genética
7.
J Anat ; 245(2): 339-345, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38574100

RESUMO

Cartilage is a strong and flexible connective tissue that has many forms and functions in our body. While cartilage exhibits some forms of limited repair, for the most part, it is not particularly regenerative. Thus, in situations where patients require cartilage reconstruction, surgeons may use autografts to replace missing or damaged tissue. Cartilage tissues from different regions of the body exhibit histological differences and are in limited supply. Thus, it is important to characterize these differences to determine the most appropriate autograft source. In the case of microtia, a congenital deformity where the pinna is underdeveloped, reconstruction commonly utilizes cartilage sourced from a patient's own costal cartilage. This presents a potential morbidity risk. In this study, we evaluate the histological characteristics of microtia cartilage compared with normal auricular and costal cartilage obtained from human patients undergoing surgical resection. Histochemistry was used to evaluate cellularity, lipid content, and ECM content. Using a Bayesian statistical approach, we determined that while costal cartilage is the standard tissue donor, the microanatomy of microtia cartilage more closely reflects normal auricular cartilage than costal cartilage. Therefore, microtia cartilage may serve as an additional reservoir for cartilage during reconstruction.


Assuntos
Microtia Congênita , Cartilagem Costal , Cartilagem da Orelha , Humanos , Microtia Congênita/cirurgia , Cartilagem da Orelha/transplante , Cartilagem Costal/transplante , Procedimentos de Cirurgia Plástica/métodos , Masculino , Autoenxertos , Feminino , Adulto , Adolescente , Transplante Autólogo
8.
BMC Ophthalmol ; 24(1): 81, 2024 Feb 22.
Artigo em Inglês | MEDLINE | ID: mdl-38388885

RESUMO

BACKGROUND: To report a case of a 4-year-old patient with Goldenhar syndrome. CASE PRESENTATION: The author presents a rare case report involving a 4-year-old boy with multiple malformations. A comprehensive examination showed that the patient primarily had a limbal dermoid. He also has bilateral microtia and ear canal deformities. The skull CT scan and spine X-ray showed Maxillofacial Abnormalities and scoliosis. Whole Exome Sequencing revealed potential gene variations related to microtia. Although certain circumstances prevented us from initiating follow-up treatment for the patient, we have provided a detailed account of the diagnostic methodologies used for this condition. CONCLUSIONS: Goldenhar syndrome is a congenital condition, predominantly presenting as sporadic cases. Its diagnosis and management typically necessitate the involvement of multiple disciplines, including otolaryngology and craniofacial surgery. The syndrome encompasses a variety of craniofacial features, which can facilitate early diagnosis and guide subsequent therapeutic interventions.


Assuntos
Anormalidades Múltiplas , Microtia Congênita , Neoplasias Oculares , Síndrome de Goldenhar , Masculino , Humanos , Pré-Escolar , Síndrome de Goldenhar/diagnóstico , Síndrome de Goldenhar/genética , Microtia Congênita/diagnóstico , Anormalidades Múltiplas/diagnóstico , Tomografia Computadorizada por Raios X
9.
Lasers Med Sci ; 39(1): 234, 2024 Sep 06.
Artigo em Inglês | MEDLINE | ID: mdl-39240409

RESUMO

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.


Assuntos
Microtia Congênita , Remoção de Cabelo , Procedimentos de Cirurgia Plástica , Humanos , Feminino , Masculino , Estudos Retrospectivos , Microtia Congênita/cirurgia , Remoção de Cabelo/métodos , Procedimentos de Cirurgia Plástica/métodos , Adolescente , Adulto Jovem , Adulto , Criança , Terapia a Laser/métodos , Terapia a Laser/instrumentação
10.
Eur Arch Otorhinolaryngol ; 281(3): 1205-1214, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37792216

RESUMO

PURPOSE: To identify audiological and demographic variables that predict speech recognition abilities in patients with bilateral microtia who underwent Bonebridge (BB) implantation. METHODS: Fifty patients with bilateral microtia and bilateral conductive hearing loss (CHL) who underwent BB implantation were included. Demographic data, preoperative hearing aid use experience, and audiological outcomes (including pure-tone hearing threshold, sound field hearing threshold [SFHT], and speech recognition ability) for each participant were obtained. The Chinese-Mandarin Speech Test Materials were used to test speech recognition ability. The word recognition score (WRS) of disyllabic words at 65 dB SPL signals was measured before and after BB implantation in quiet and noisy conditions. RESULTS: The mean preoperative WRS under quiet and noisy conditions was 10.44 ± 12.73% and 5.90 ± 8.76%, which was significantly improved to 86.38 ± 9.03% and 80.70 ± 11.34%, respectively, following BB fitting. Multiple linear regression analysis revealed that lower preoperative SFHT suggested higher preoperative WRS under both quiet and noisy conditions. Higher age at implantation predicted higher preoperative WRS under quiet conditions. Furthermore, patients with more preoperative hearing aid experience and lower postoperative SFHT were more likely to have higher postoperative WRS under both quiet and noisy testing conditions. CONCLUSIONS: This study represents the first attempt to identify predictors of preoperative and postoperative speech recognition abilities in patients with bilateral microtia with BB implantation. These findings emphasize that early hearing intervention before implantation surgery, combined with appropriate postoperative fitting, contributes to optimal benefits in terms of postoperative speech recognition ability.


Assuntos
Microtia Congênita , Auxiliares de Audição , Percepção da Fala , Humanos , Microtia Congênita/complicações , Microtia Congênita/cirurgia , Estudos Retrospectivos , Fala , Perda Auditiva Condutiva/cirurgia , Condução Óssea
11.
Eur Arch Otorhinolaryngol ; 281(8): 4039-4047, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38365989

RESUMO

PURPOSE: First-generation bone bridges (BBs) have demonstrated favorable safety and audiological benefits in patients with conductive hearing loss. However, studies on the effects of second-generation BBs are limited, especially among children. In this study, we aimed to explore the surgical and audiological effects of second-generation BBs in patients with bilateral congenital microtia. METHODS: This single-center prospective study included nine Mandarin-speaking patients with bilateral microtia. All the patients underwent BCI Generation 602 (BCI602; MED-EL, Innsbruck, Austria) implant surgery between September 2021 and June 2023. Audiological and sound localization tests were performed under unaided and BB-aided conditions. RESULTS: The transmastoid and retrosigmoid sinus approaches were implemented in three and six patients, respectively. No patient underwent preoperative planning, lifts were unnecessary, and no sigmoid sinus or dural compression occurred. The mean function gain at 0.5-4.0 kHz was 28.06 ± 4.55-dB HL. The word recognition scores improved significantly in quiet under the BB aided condition. Signal-to-noise ratio reduction by 10.56 ± 2.30 dB improved the speech reception threshold in noise. Patients fitted with a unilateral BB demonstrated inferior sound source localization after the initial activation. CONCLUSIONS: Second-generation BBs are safe and effective for patients with bilateral congenital microtia and may be suitable for children with mastoid hypoplasia without preoperative three-dimensional reconstruction.


Assuntos
Condução Óssea , Microtia Congênita , Perda Auditiva Condutiva , Humanos , Microtia Congênita/cirurgia , Microtia Congênita/complicações , Masculino , Feminino , Estudos Prospectivos , Criança , Adolescente , Perda Auditiva Condutiva/cirurgia , Perda Auditiva Condutiva/etiologia , Resultado do Tratamento , Adulto Jovem , Adulto , Localização de Som/fisiologia , Desenho de Prótese
12.
J Craniofac Surg ; 35(5): 1398-1401, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38771204

RESUMO

OBJECTIVE: This paper compares demographic, morphological, functional, and risk factors between isolated and familial forms of microtia in Ecuadorian mestizo patients. METHODS: The authors did an epidemiological, and retrospective study with 112 patients divided into isolated microtia (n = 91) and familial microtia (n = 21). Patients with syndromic microtia were not included. RESULTS: In isolated microtia, the mean age was 11.80 ± 16.9, and the most prevalent age group was from 5 to 9 years, with 45.0%; males were 58.2%, and 91.2% of patients were born in a city above 2500 meters about sea level. In familial microtia, the mean age was 15.57 ± 17.2. There were no statistically significant differences between the analyzed variables. In isolated microtia, 41.8% of patients had bilateral involvement, 40.7% had grade 1 microtia in the right ear (RE), and grade 1 in the left ear was 47.3%; external auditory canal atresia of RE was present in 62.6%, and in left ear in 31.6%. External auditory canal atresia sidedness was mostly unilateral in both groups. Most patients did not have tags or pits (78% and 81% in RE and 85.7% and 71.4%). Most patients had moderate hearing loss in both ears. CONCLUSION: The authors found an association between both microtia forms with external auditory canal atresia in RE; only 20% of patients had unilateral auricular tags or pits in both groups. The authors also found a high incidence (18.75%) of familial microtia, which suggests a distinct pathological genetic component than the more prevalent isolated cases. The authors found a high association of microtia cases from the Ecuadorian highlands above 2500 meters about sea level (over 90%). The presence of "social" intake of alcohol during pregnancy showed over twice the chance of having a child born with microtia.


Assuntos
Microtia Congênita , Humanos , Masculino , Equador/epidemiologia , Estudos Retrospectivos , Feminino , Criança , Fatores de Risco , Microtia Congênita/epidemiologia , Microtia Congênita/genética , Adolescente , Pré-Escolar , Adulto , Prevalência , Adulto Jovem , Lactente
13.
J Craniofac Surg ; 35(1): 43-45, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37669467

RESUMO

BACKGROUND: Up to 17.4 in every 10,000 births are affected by microtia, but no consensus exists on a gold standard technique for autogenous repair. In this study, the authors compare 2 common methods-the Brent and Nagata autogenous costal cartilage ear reconstruction techniques. A systematic review of the literature and a quantitative meta-analysis to compare the outcomes of these 2 approaches were performed. The outcomes analyzed included rates of infection, necrosis, cartilage exposure, cartilage resorption, hematoma, wire extrusion, and hypertrophic scar. METHODS: A MEDLINE database systematic review with the following keywords: microtia, Brent, and Nagata was performed. Case reports and articles without original data or patient outcomes were excluded. Inclusion methods for study selection are outlined in Supplemental Digital Content 1, http://links.lww.com/SCS/F461 , below. The prevalence of outcomes for each study was analyzed through meta-analysis of proportions using Stata. RESULTS: A total of 536 potential studies were retrieved for review. Twelve of these studies met inclusion criteria. Four studies utilized the Brent method of repair with the inclusion of 563 ear reconstructions. Nine studies implemented the Nagata technique in 2304 reconstructions. Two studies directly compared the Brent (327 ears) and Nagata (471 ears) techniques. The calculated rate and 95% confidence intervals are summarized in Supplemental Digital Content 2, http://links.lww.com/SCS/F461 . There were no statistically significant differences in complication rates between the Brent and Nagata microtic reconstruction techniques identified in this study. CONCLUSIONS: The Brent and Nagata microtia reconstruction techniques have no difference in the risk of infection, necrosis, cartilage exposure, cartilage resorption, hematoma, wire extrusion, or hypertrophic scars.


Assuntos
Cicatriz Hipertrófica , Microtia Congênita , Humanos , Microtia Congênita/cirurgia , Orelha Externa/cirurgia , Cartilagem da Orelha/cirurgia , Hematoma , Necrose
14.
J Craniofac Surg ; 35(5): 1509-1512, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38743060

RESUMO

Esthetic concerns and psychosocial distress often accompany auricular deformities and malformations in both children and their parents. Approximately 30% of newborns are affected by auricular anomalies, with 15% to 20% resulting in permanent defects. While surgical intervention is typically considered the gold standard for malformations, a non-surgical approach, such as splinting, molding, or other non-invasive techniques, can effectively address deformations if promptly administered by a specialist. Microtia, classified into 4 types, presents challenges ranging from fundamental structural anomalies in types 1 and 2 to severe defects in type 3 and complete absence of the external ear in type 4 (anotia). This study introduces a novel non-invasive treatment modality for microtia types 1 and 2. The cohort consisted of 5 newborns treated for microtia types 1 or 2 between 2022 and 2023. Utilizing the EarWell system, treatment was initiated before 3 weeks of age (mean age: 2 weeks), with an average treatment duration of 6.6 weeks, supplemented by molding treatment as needed. Minor adverse effects, such as simple dermatitis, were observed in 2 patients. All parents expressed high satisfaction with the esthetic outcomes, with 60% reporting extreme satisfaction. The prompt initiation of the treatment protocol for microtia types 1 and 2 led to outstanding and timely outcomes in infants, enhancing the quality of life for both parents and their children. Early intervention for subsequent treatment may improve the condition and, in certain cases, serve as a satisfactory alternative for parents hesitant about further surgical intervention for their children.


Assuntos
Microtia Congênita , Humanos , Microtia Congênita/cirurgia , Masculino , Feminino , Recém-Nascido , Satisfação do Paciente , Estética , Resultado do Tratamento , Qualidade de Vida , Orelha Externa/anormalidades , Orelha Externa/cirurgia
15.
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
16.
J Craniofac Surg ; 35(5): e421-e423, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38709034

RESUMO

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.


Assuntos
Região Branquial , Microtia Congênita , Tetralogia de Fallot , Humanos , Masculino , Tetralogia de Fallot/cirurgia , Região Branquial/anormalidades , Região Branquial/cirurgia , Criança , Microtia Congênita/cirurgia , Fístula/cirurgia , Fístula/congênito , Doenças Faríngeas , Anormalidades Craniofaciais
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 Craniofac Surg ; 35(4): e338-e341, 2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38349342

RESUMO

Extensive skin graft necrosis after auricle reconstruction surgery is a thorny problem for plastic surgeons. Four unilateral microtia patients were enrolled for extensive skin graft necrosis after ear elevation surgery. Early debridement and daily dressing changes were important for preoperative preparation. Surgical treatments involved local flaps and secondary split-thickness skin graft. After 3 to 12 months of follow-up, clear surface structures and obvious auricular sulcus were shown in all 4 patients. No cartilage exposure, skin necrosis, healing impairment, or other complications were found. We attribute the cause of extensive skin graft necrosis to subcutaneous hematoma. Local skin flaps and split-thickness skin grafting can be effective treatments for such situations. The use of temporoparietal fascial flap is unnecessary when poor graft survival is caused by subcutaneous hematoma.


Assuntos
Pavilhão Auricular , Necrose , Procedimentos de Cirurgia Plástica , Transplante de Pele , Retalhos Cirúrgicos , Criança , Humanos , Masculino , Microtia Congênita/cirurgia , Desbridamento , Pavilhão Auricular/cirurgia , Hematoma/cirurgia , Hematoma/etiologia , Procedimentos de Cirurgia Plástica/métodos , Complicações Pós-Operatórias/cirurgia , Terapia de Salvação/métodos , Transplante de Pele/métodos
19.
Aesthetic Plast Surg ; 48(14): 2618-2624, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38811386

RESUMO

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. LEVEL OF EVIDENCE IV: 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 .


Assuntos
Microtia Congênita , Cartilagem Costal , Procedimentos Cirúrgicos Minimamente Invasivos , Procedimentos de Cirurgia Plástica , Coleta de Tecidos e Órgãos , Humanos , Cartilagem Costal/transplante , Estudos Retrospectivos , Masculino , Feminino , Microtia Congênita/cirurgia , Coleta de Tecidos e Órgãos/métodos , Procedimentos de Cirurgia Plástica/métodos , Procedimentos de Cirurgia Plástica/efeitos adversos , Adolescente , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Criança , Adulto Jovem , Adulto , Transplante Autólogo/métodos , Resultado do Tratamento , Estudos de Coortes
20.
Aesthetic Plast Surg ; 48(11): 2155-2161, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38238570

RESUMO

BACKGROUND: The issue of hair growth on reconstructed ears has been a matter of concern for both patients and surgeons, despite the notable progress made in microtia reconstruction technology in recent times. OBJECTIVE: This study aims to present the practical implementation of long-pulsed 800-nm diode laser depilation technology in the field of auricular reconstruction. Furthermore, it seeks to establish a comprehensive and standardized protocol for utilizing lasers in the reconstruction of microtia ears. METHODS: A total of 965 patients (comprising 1021 ears) diagnosed with congenital microtia underwent treatment using 800-nm long-pulsed diode laser depilation. The participants received 1-3 treatment sessions with intervals of 25-30 days. To assess the effectiveness of the treatment, two independent observers compared photographs and measured the reduction in terminal hair count before and after the final session. Clinical outcomes were evaluated using VAS questionnaires, and any adverse events were diligently recorded. RESULTS: The findings indicated that the utilization of the long-pulsed 800-nm diode laser was both safe and efficient in achieving hair removal during microtia ear reconstruction. As additional sessions were conducted, pain scores demonstrated a decline, while adverse reactions remained minimal. LIMITATIONS: This is a retrospective single-institution study. CONCLUSION: The application of a long-pulsed 800-nm diode laser has been proved to be a safe and effective method for removing hair during the process of microtia ear reconstruction, involving the use of a tissue expander and autologous costal cartilage. To achieve satisfactory results in hair removal, it was found necessary to repeat the shots procedure two to three times. LEVEL OF EVIDENCE IV: 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 .


Assuntos
Microtia Congênita , Estética , Remoção de Cabelo , Lasers Semicondutores , Procedimentos de Cirurgia Plástica , Humanos , Microtia Congênita/cirurgia , Estudos Retrospectivos , Feminino , Lasers Semicondutores/uso terapêutico , Masculino , Procedimentos de Cirurgia Plástica/métodos , Adolescente , Criança , Remoção de Cabelo/métodos , Adulto Jovem , Resultado do Tratamento , Adulto , Estudos de Coortes , Seguimentos , Medição de Risco
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