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Birth defects is one of the most important problems of human society. External birth defect is one of the major research fields of plastic surgery. This kind of disorders damages the body image of patients in mild or severe way, affects severely the social confidence of the patients themselves and their families. we summarized the research progress of the common external birth defects (the incidence top 10) from the aspects of pathogenesis, prevention, treatments and so on, in order to provide reference materials to the prevention and treatment of them.
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Objective@#To investigate the curative effect of auricular deformity repaired by concha cartilage.@*Methods@#From January 2017 to June 2018, 15 cases with auricular deformities were repaired using the autologous concha cartilage which combined with the retroauricular flap or retroauricular fascia with skin grafting. 9 males and 6 females, aged 10-40 with an average age of 19; 3 cases of upper 1/3 traumatic auricle defect, 2 cases of congenital Stahl's ear, 5 cases of congenital cup-shaped ear and 5 cases of congenital cryptotia.@*Results@#Total 15 patients were followed up for 12-18 months after the surgery. The area of concha cartilage resection was about 0.5 cm×1.0 cm. The shape and size of the repaired ears were similar to the healthy ear. The transplanted cartilages were not absorbed or deformed. The incision was healed well and retroauricular flap, retroauricular fascia, and skin grafting were preserved well without complications like hemorrhage, necrosis, and infection.@*Conclusions@#This method is harmless and simple, which has reliable and satisfactory effects on various auricular deformities.
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IIn recent years, an increasing trend of the birth prevalence of anotia/microtia is observed in China, contributed by changes of social environment and lifestyle. There seems to be no major breakthroughs in exact pathogenesis of microtia, though the research results related to molecular genetics unceasingly appear. Animal studies have important implications for exploring the pathophysiologic mechanism of microtia. In this review, we focused on the types and modeling approaches of animal models, as well as the advantages and disadvantages respectively. We believe that this review will provide references for researchers to select and establish appropriate animal models.
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Objective@#To study the construction of Bmp5 short ear homozygous mouse model and the feasibility of its application in the study of congenital microtia.@*Methods@#Twelve Bmp5 short-ear mouse were introduced from JAX laboratory in the United States. Ten pregnant Bmp5 short-ear mouse were obtained by breeding. DNA was extracted from the tail of 86 fetal rats aged 14.5 days and sequenced by Sanger method. Three pregnant mice were born normally, and the young mouse was fed conventionally. Three 40-day-old mice with auricle deformity and normal auricle were stained with Alcian blue, and the result were compared and analyzed.@*Results@#The auricle of Bmp5 short ear homozygous mouse was significantly shorter than that of their sibling normal auricles. Sanger sequencing showed that the point mutation of Bmp5 was the seventh base at the bottom of exon 2, and the base mutated from C to T. The result of Alcianblue staining showed that the size of homozygous mutant mouse was small and the development of sternum and ribs was obviously abnormal.@*Conclusions@#The model of Bmp5 short ear mouse can be completely suitable for the study of human congenital microtia. The model of Bmp5 short ear mouse is a suitable animal model to study the development mechanism of congenital microtia.
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The temporoparietal fascia (TPF) is a robust and distinct layer between the deep temporal fascia and the subcutaneous fat in the temporal region. The TPF is richly vascularized by superficial temporal vessels. Besides, its thin and pliable characteristics with secluded incision and minimal donor site morbidity provide a good option for the plastic and reconstructive surgeons. Recently, the TPF flap was employed to treat some rare diseases such as the laryngotracheal stenosis and pharyngocutaneous fistula. This article extensively reviewed relevant researches on the application of the fascial flaps in recent years.
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Domestic and overseas studies onthe prominent eartreatment were reviewed and analyzed.Current progress of clinical therapy for prominent ear was summarized.The uniform clinical diagnosis and therapy of prominent earhave not been determined, due to its complicated and various therapeutic methods and unclear etiology. Reported therapies mainly include: (1)surgical therapy, which attains satisfactory therapeutic effect by adopting improved approaches, i. e. the combination of operations or the innovative methods based on Mustarde′s, Sterstrom′s and Converse′s surgical methods. (2)Non-surgical therapy, including ear splinting or molding, and laser-assisted cartilage reshaping(LACR). The non-surgical therapyisa hot research field, and is going to bepopularizedin the future.Research of etiology and non-surgical treatments may be helpful to provide abetter therapy strategy for prominent ear.
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Objective@#To investigate the expression of long non-coding RNA(lncRNA) uc003jsd.1 in congenital microtia and its clinical significance.@*Methods@#Real-time quantitative polymerase chain reaction (Real-time PCR) was used to detect the expression of lncRNA-NR_028308 in the residual ear cartilage and normal ear cartilage of 8 patients with microtia.@*Results@#The expression of uc003jsd.1 was significantly higher in the residual ear cartilage (P=0.015) than paired normal tissues.@*Conclusions@#LncRNA-uc003jsd.1 is up-regulated in the cartilage of the congenital microtia, suggesting a certain relationship with the development of congenital microtia.
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Objective@#To investigate the tissue structure, chondrocyte characteristics, and the differential expression of related genes and cell surface markers of auricular cartilage of patients in different ages, in order to provide a basis for the age selection of tissue engineered cartilage repair defects.@*Methods@#The auricular cartilage tissue was obtained from 22 patients with microtia in the Plastic Surgery Hospital, Chinese Academy of Medical Science, ranged from 6 to 28 years old, and divided into the child group (6-12 years old), the adolescent group (13-18 years old) and the adult group (21-28 years old). The proliferation and differentiation features of chondrocytes which from different-aged patients were detected. Furthermore, quantitative real-time PCR was used to detect the differences in the expression of genes related to cell proliferation and chondrocyte extracellular matrix. Flow cytometry, immunofluorescence and immunohistochemistry were used to detect the differences in the expression of mesenchymal stem cell markers CD90, CD44, CD73 and CD105 in chondrocytes. SPSS Statistics 21.0 software was used to process statistics.@*Results@#The proliferation capability of auricular chondrocytes of children was stronger than adolescents and adults, the child group vs the adult group P<0.05, the child group vs the adolescent group P<0.01. The expression of cartilage extracellular matrix related gene COL2A1 increased with age, the child group vs the adult group P<0.01, the adolescent group vs the adult group P<0.01. While the capability of cell osteogenic differentiation decreased with age(P<0.05). However, there was no significant difference in the capability of adipogenic differentiation when considering the ages of patients. The results of both flow cytometry and real-time PCR showed that the expression of mesenchymal stem cell markers decreased with age, with the most significant decrease in CD90(P<0.01).@*Conclusions@#The biological characteristics and stem cell content of cells derived from auricular cartilage tissue was influenced by the patients′age.
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Objective@#To explore the effect of using free costal cartilage combined with helix stretching to correct Tanzer IIB type constricted ear deformity.@*Methods@#From January 2015 to January 2017, free costal cartilage combined with helix stretching method was performed in 8 ears of 6 patients. All patients had Tanzer IIB type constricted ear deformity. Rotation flap and subcutaneous helix tunnel were designed and prepared. Thereafter, the helix cartilage was stretched. The costal cartilage was carved and placed in the helix subcutaneous tunnel. The flap was then rotated to cover the wound.@*Results@#All patients were recovered without significant complication. No flap necrosis or cartilage exposure was observed. Helix and antihelix were obvious. The corrected ears were similar to the healthy side, after 3 to 6 months follow up.@*Conclusions@#The combination of free costal cartilage and helix stretching is an effective method to correct Tanzer ⅡB type constricted ear deformity.
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Objective@#To explore the feasibility of using Prkralear-3J mouse (also known as: little ears 3 Jackson) as an animal model in the study of congenital microtia.@*Methods@#Six Prkralear-3J mice of the same litter were introduced from JAX laboratory in the United States. 13 pregnant Prkralear-3J mice were obtained through breeding. A total of 75 fetus tails with gestational age of 14.5 days were obtained, and DNA was extracted and sequenced by Sanger method. Three pregnant mice were normally produced, and the young mice were routinely reared after birth. Three 40-day-old mice with auricle deformity and normal auricle were used respectively to perform skeletal alcian blue staining and comparative analysis.@*Results@#The auricle of Prkralear-3J homozygous mice was significantly smaller than that of the wild-type mice, and the substructure morphology of the normal mouse auricle was lost. The mutation site was a G-to-A mutation on chromosome 76, 643, 218 bp (GRCm38), which was located after the third exon. The results of alcian blue staining showed that the overall body size of Prkralear-3J homozygous mouse was smaller than that of wild type mouse, and the bone development of limbs was basically normal, but it was thin and short, especially in the hind limbs, the ribs were smaller, the tailbone was shorter, and the skull was slightly smaller.@*Conclusions@#The Prkralear-3J mouse is a suitable animal model for studying the developmental mechanism of congenital microtia.
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Objective@#To summarize the clinical effect of using the composite flap of microtic cartilage and soft tissue in tragus reconstruction to correct preauricular depression.@*Methods@#From January 2015 to November 2016, we corrected preauricular depression of 523 patients with congenital microtia that were treated with tragus reconstruction by using the composite flap of residual ear cartilage and soft tissue.@*Results@#All the composite flap of residual ear cartilage and soft tissue were transplanted successfully. No blood circulation disorder and significant contracture occurred. All patients were followed up for 6-14 months with an average of 10 months. The reconstructed tragus looked projective and the preauricular depression was corrected, demonstrating a similar looking to the healthy side. The patients were satisfied with the results.@*Conclusions@#The residual ear tissue could form the composite flap of residual ear cartilage and tissue. Using the composite flap to fill the preauricular depression was effective, which was not easily absorbed. The residual ear tissue is the best resource for filling the preauricular depression. It should not be discarded in ear reconstructive surgery, but reserved for the next operation for tragus reconstruction.
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Objective@#To seek an accurate and objective method to locate reconstructed auricles and design frameworks with digital technology for microtia patients with craniomaxillofacial asymmetry, improving the symmetry of the postoperative ears.@*Methods@#From September 2014 to February 2016, 50 unilateral microtia patients with craniomaxillofacial asymmetry who were scheduled for auricular reconstruction were included in the study. The digital models of the patients′ ears and heads were based on the scan data preoperatively, which were collected by the three dimensional(3D) photogrammetric scanning technique. The reconstructed auricle was positioned by the mirror image of the contralateral side on the digital models. Based on the location, the morphological parameters and the corrective parameters of the autogenous cartilage frameworks could be obtained. With the guidance of the above information, ear reconstruction with tissue expander could be carried out.@*Results@#Auricular and craniofacial morphology could be reflected vividly by the digital models. Meanwhile, the location and parameters of the reconstructed ear could be acquired. And the outcomes of the 50 reconstructed ears were satisfactory with symmetrical appearance. With 1 to 8 months (average 6.8 months) of follow-up, both the doctors and the patients were satisfied with the postoperative result.@*Conclusions@#Utilizing the location and parameters which were obtained from the digital models based on 3D photogrammetric scanning is an accurate and objective way to gain more symmetrical result in clinical ear reconstruction for microtia patients with craniomaxillofacial asymmetry.
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Objective@#To explore the curative effect of ultra-delicate split-thickness skin graft in continuity with full-thickness skin flap combined with Z-plasty for correction of cryptotia.@*Methods@#Four cases (six ears) were corrected by ultra-delicate split-thickness skin graft in continuity with full-thickness skin flap combined with Z-plasty method from 2016 to 2017. Following ear release, the flap is rotated into the defect and donor site covered by a razor-thin graft raised in continuity with the flap, the posterior flap was advanced and sutured with Z-plasty.@*Results@#All corrected auricles four cases (six ears) were followed up from 3 months to 1 year and abtained satisfactory and stable appearance.@*Conclusions@#The shape of auricle is natural and satisfactory after operation. The method is simple and no skin grafting is needed. The adhesion of the hidden muscles and cartilages were sufficiently released.
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CHARGE (Coloboma, Heart defects, Atresia of the choanal, Retarded growth and development, Genital abnormalities, Ear anomalies and deafness) syndrome is a combination of multiple congenital abnormality. With the previous data which has been reported, most cases of CHARGE syndrome were liked to heterozygous mutations in the gene CHD7, encoding the CHD (chromodomain helicase DNA binding domain) member CHD7. Owing to the misleading by common features with other anomaly syndromes and the insufficient CHARGE syndrome, the diagnostic rate of this disease is quite low. In this review authors summarize the recent developments in phenotypic features, diagnosis, aetiology and clinical management of CHARGE syndrome.
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Objectives@#To explore the differences in signal pathway and gene expression related to the pathogenesis of congenital microtia by the in-depth analysis of DNA methylation profiling of auricular chondrocytes from congenital microtia patients.@*Methods@#Genome wide methylation profile of congenital microtia was obtained by MeDIP chip technology, and analyzed by Gene ontology (GO) and Pathway analysis. The gene expression levels of Wnt1 and Wnt11 were evaluated by Real-time PCR in the auricular cartilage from the healthy side and affected side of the congenital microtia patients , and healthy controls.@*Results@#The GO and Pathway assay showed that Wnt signal pathway was enriched in differential methylated levels. The Wnt1 and Wnt11 genes were with higher methylation in the promoter region and CpG islands in healthy control group than that in microtia group, in addition the methylation level in the affected side auricular cartilage was lower than that in the healthy side. There was no difference in Wnt1 and Wnt11 gene expression in microtia patients and healthy controls. The higher Wnt11 gene expression was detected in the affected side residual cartilage tissues than in the healthy side cartilage tissues of the same congenital microtia patient.@*Conclusions@#The over expression of Wnt11 during embryonic development might be associated with the pathogenesis of congenital microtia. The mechanism of the difference in methylation levles of Wnt11 affecting pathogenesis of congenital microtia needs further research.
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Objective@#To discuss the strategy for dealing with the failed reconstructed ears.@*Methods@#From January 2010 to January 2015, 14 cases (14 ears) were admitted to our department because of failed reconstructed ears. It was impossible to improve their appearance greatly just by adjusting the original structures. We had to take out the framework and re-reconstruct the ear with autologous costal cartilages. Depending on the conditions of soft tissue, we divided them into three groups: Group 1, 8 ears(57.1%), the soft tissue could be reused simultaneously after being dealt with appropriately although the original frameworks were distorted badly. We took out the original frameworks, harvested cartilages again, fabricated the new frameworks and wrapped them with the original soft tissue. Group 2, 4 ears(28.6%), the structures were damaged completely, just with the constricted scars and skin graft clinging on the mastoid bone. We wrapped the new framework with axial temporal superficial fascia flap and then covered the wound with skin graft; Group 3, 2 ears(14.3%), the structures were distorted seriously. The skin flap covering the framework constricted badly while the post-auricular fascia flap was unspent. We took out the framework, implanted the skin expander under the spread skin flap, and then re-reconstructed the ear with expansion method.@*Results@#13 of 14 cases( 92.9%)were rebuilt successfully. The new ears maintained the landmark subunits 1 month after surgery. In 1 case (7.1%) from group 3, the creased skin had a rupture during skin expansion period. The expander had been taken out, and then a new one was replaced 3 months later. Follow-up period was 3-12 months. The structures of all the 14 rebuilt ears were stable and much better than before.@*Conclusions@#Good results could be achieved when appropriate method was selected for failed reconstructed ear. The condition of soft tissue of distorted reconstructed ear should be considered.
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Objective@#To investigate the effect of auricle deformity corrector in non-surgical treatment of congenital auricular deformity.@*Methods@#The auricular deformity correctors were applied for non-surgical treatment of congenital auricular deformities. The patients were divided into three groups according to the treatment starting age (<1 month old, 1-3 months old, 3-6 months old), followed up for every month respectively after treatment. According to the improvement of auricle morphology, the treatment results were divided into four levels (e, g, f, p) and the effective rate (e+ g)% was calculated.@*Results@#From January 2014 to December 2016, there were 140 ears of congenital malformations in children aged less than 6 months who were treated and followed up. Among them, 33 ears had helical rim abnormalities, 29 with cup-shaped ears, 12 with prominent ears, 4 with Stahl′s ears, and 62 with cryptotia ears. The therapeutic efficacies (<1 month old, 1-3 months old, 3-6 months) of these ear malformations were: cryptotia ear (100%, 100%, 87.5%), helical rim abnormality (100%, 90.47%, 66.67 %), prominent ear (-, 100%, 50%), cup ear (100%, 78.57%, 53.33%), Stahl′s ear (-, 100%, 33.33%). Follow-up more than 6 months after treatment, up to a year and a half, no recurrence was found.@*Conclusions@#The auricular deformity corrector can be used as an effective approach for achieving natural outcomes and correcting cosmetic abnormalities. Rate of satisfaction is dependent on types of deformity, the neonatal age in which treatment started and also parents′ compliance to treatment methods and principals. The method is noninvasive, easy to wear and works well. Early proper treatment can avoid future operations and save social medical resources.
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Objective@#To identify a pig model with bilateral external ear defects accompanied by aural atresia and investigate its application in plastic surgery.@*Methods@#Erhualian×Shaziling F2 pig inbreeding population was introduced, and examination of external ear morphology was conducted in all individuals. Temporal computed tomography scanning and mutational detection of HOXA1 gene were conducted in one affected and one normal individuals.@*Results@#In Erhualian×Shaziling F2 pig inbreeding population, there were 57 normal and 18 affected individuals among the 75 pigs. Affected subjects presented bilateral external ear defects accompanied by aural atresia; temporal computed tomography scanning showed bilateral aural atresia and dysplasiaof middle ear; and gene detection identified homozygous mutation of HOXA1 gene.@*Conclusions@#Pig model with HOXA1 gene homozygous mutation resembles human microtia at different levels. Our findings provide the theoretical basis for its application to study further pathological mechanism for human microtia.
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Objective@#To analyze the clinical features and diagnostic and therapeutic procedure of microtia in Klippel-Feil syndrome(KFS), and to summarize the experiences on diagnosis and treatment of this kind of rare disease to avoid misdiagnosing.@*Methods@#Between May 2014 and July 2015, six patients with microtia were diagnosed with suspected cervical vertebral malformation through physical examination and X-ray. Then they underwent additional examinations to evaluate the degree of deformities and relative risks: pure tone test, chest CT, cervical spine CT, temporal CT, echocardiography and ultrasonic on kidney and ureters. Ear reconstruction was performed with soft tissue skin expander and autogenous rib cartilage framework.@*Results@#The six patients were diagnosed as KFS with microtia, which had different degree of cervical fusion and thoracic vertebral fusion. Some of them had rib deformity, scoliosis, congenital renal malformation and so on. Of 6 patients, scar formation occurred in 1 case after ear reconstruction, whose new ears had good position and appearance at 1 month after stage II. After operation, 6 cases were followed up for 8-20 months (median, 12 months), none of them had nerve injury. Five cases had completed the third stage. All of them were well-healed after one month. Three cases were followed up for 3-11 months, the reconstructed ears had a three-dimensional configuration, and the cranioauricular angle of the reconstructed ears were similar to the opposite ears.@*Conclusions@#The primary step of comprehensive therapy in microtia with KFS is to diagnose definitely. Enhancing perioperative management can reduce surgery-related risks. It is ought to pay attention to nerve injury in a long-term follow-up.
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Objective@#To investigate treatment and outcome of rib cartilage framework in ear reconstruction.@*Methods@#12 cases of rib cartilage framework infection in ear reconstruction were retrospectively analysed in the latest four years. Lab examination results showed that staphylococcus aureus were found in 5 cases, coagulase negative staphylococcus in 3 cases, Klebsiella pneumonia in 2 cases, aeromonas hydrophila in 1 case and no bacteria were found in 1 case with regular culture. Debridement, systemic antibiotic therapy, saline irrigations and unobstructed drainage were utilized to treat the infection.@*Results@#The average duration of dressing change was 35 days in 12 cases (12-67 days), of which six cases were cured leaving no obvious or mild change of cartilage framework. Cartilage framework was totally damaged by infection in one case, so the framework had to be removed and debridement was then carried out to control infection. Secondary repair should be taken at least 6 months later. In the rest 5 cases, frameworks were taken out in the early stage of infection. The infected portion of the cartilage was removed and the healthy part was buried subcutaneously in the chest. The expanded postauricular flap and fascia were smoothened. Secondary repair should be performed after 6 months.@*Conclusions@#Effective debridement, irrigations and drainage can be used to control infection of cartilage framework and maintain normal contour and structure of reconstructed auricle. With regards to severe infection, framework should be removed as early as possible and infected portion of cartilage should be cleared out, while healthy part could be used for secondary reconstruction of auricular contour after complete control of infection.