As for the treatment of microtia, the status quo is as follows. The ear reconstruction with autologous costal cartilage has been generally accepted as the therapeutic strategy for type Ⅲ/Ⅳ patients with only small ear lobe remaining or complete absence of auricle, and the outcomes are improved steadily with the advances in technology; but for type Ⅰ/Ⅱ patients with larger remnant ear, there is insufficient evidence to be able to support any specific treatment methods as the potential unified approach for surgeons to choose from. Non-surgical treatment with appliance wearing may play an auxiliary role in the treatment of microtia, which is worthy of further research. The authors proposed a serialized treatment system based on their clinical practice and literature review. It is expected to be helpful for the treatment of microtia.

As for the treatment of microtia, the status quo is as follows. The ear reconstruction with autologous costal cartilage has been generally accepted as the therapeutic strategy for type Ⅲ/Ⅳ patients with only small ear lobe remaining or complete absence of auricle, and the outcomes are improved steadily with the advances in technology; but for type Ⅰ/Ⅱ patients with larger remnant ear, there is insufficient evidence to be able to support any specific treatment methods as the potential unified approach for surgeons to choose from. Non-surgical treatment with appliance wearing may play an auxiliary role in the treatment of microtia, which is worthy of further research. The authors proposed a serialized treatment system based on their clinical practice and literature review. It is expected to be helpful for the treatment of microtia.

Objective:To evaluate the role of de novo mutations (DNMs) in Chinese patients with non-syndromic congenital microtia by using whole exome sequencing in patient-parent trios and to detect the pathogenic DNMs, if there are any. Methods:Twenty-four Chinese trio families with congenital microtia were recruited from March 2017 to July 2018 at the Plastic Surgery Hospital of Chinese Academy of Medical Sciences. The patients, aged from 6 to 10 years old, 15 males and 9 females, had unilateral microtia, including 15 on the left and 9 on the right. After informed consent, peripheral blood was collected from patients and their unaffected parents.Whole exome sequencing was performed on all patients and their parents. DNMs in the coding region and canonical splicing sites were detected, and the number of DNMs in each patient was obtained. Each DNM was classified according to the ACMG standards and guidelines for the interpretation of sequence variants. In-silico prediction was performed using different algorithms and databases considering both variant-and gene-level implications. ExAc database, VarCards, Human Splicing Finder 3.1 software were used to predict each variant’s pathogenicity, including loss of function variant, missense variant and nonsynonymous variant. Mouse genome information database was used to detect the expression of the homologous gene, and David 6.8 bioinformatics database was used for pathway enrichment analysis of candidate genes. The Online Mendelian Inheritance in Man database was used to query the correspondence between candidate genes and human diseases.Results:Twenty-three DNMs were detected in 24 microtia trios. In each patient, there was 0-3 DNMs with no significant difference in population. Twelve missense variants, eight synonymous variants, one nonsense, one start codon variant, and one inframe indel were detected. Among them, a nonsense LRP12 mutation was classified as pathogenic according to ACMG guidelines. However, none of the variants were considered disease-causing according to in-silico predictions.Conclusions:Increased number or mutational burden of DMNs are not observed in Chinese patients with microtia. DMNs is not the primary cause of microtia, although rare DNMs in responsible genes could occasionally lead to cases.

Objective:To evaluate the role of de novo mutations (DNMs) in Chinese patients with non-syndromic congenital microtia by using whole exome sequencing in patient-parent trios and to detect the pathogenic DNMs, if there are any. Methods:Twenty-four Chinese trio families with congenital microtia were recruited from March 2017 to July 2018 at the Plastic Surgery Hospital of Chinese Academy of Medical Sciences. The patients, aged from 6 to 10 years old, 15 males and 9 females, had unilateral microtia, including 15 on the left and 9 on the right. After informed consent, peripheral blood was collected from patients and their unaffected parents.Whole exome sequencing was performed on all patients and their parents. DNMs in the coding region and canonical splicing sites were detected, and the number of DNMs in each patient was obtained. Each DNM was classified according to the ACMG standards and guidelines for the interpretation of sequence variants. In-silico prediction was performed using different algorithms and databases considering both variant-and gene-level implications. ExAc database, VarCards, Human Splicing Finder 3.1 software were used to predict each variant’s pathogenicity, including loss of function variant, missense variant and nonsynonymous variant. Mouse genome information database was used to detect the expression of the homologous gene, and David 6.8 bioinformatics database was used for pathway enrichment analysis of candidate genes. The Online Mendelian Inheritance in Man database was used to query the correspondence between candidate genes and human diseases.Results:Twenty-three DNMs were detected in 24 microtia trios. In each patient, there was 0-3 DNMs with no significant difference in population. Twelve missense variants, eight synonymous variants, one nonsense, one start codon variant, and one inframe indel were detected. Among them, a nonsense LRP12 mutation was classified as pathogenic according to ACMG guidelines. However, none of the variants were considered disease-causing according to in-silico predictions.Conclusions:Increased number or mutational burden of DMNs are not observed in Chinese patients with microtia. DMNs is not the primary cause of microtia, although rare DNMs in responsible genes could occasionally lead to cases.

Objective: To study the expression of Wnt2b protein and the epithelial-mesenchymal transition related markers in tissues of carcinoma of bile duct and normal bile duct to determine the clinical significance. The relationships between the expression levels and clinicopathological characteristics were analyzed, and the correlation between Wnt2b and epithelial interstitial transformation (EMT), tumor invasion and metastasis were studied. Methods: A total of 60 patients with cholangiocarcinoma and 30 patients with normal bile duct tissues admitted to the Affiliated Hospital of Qingdao University from December 2008 to December 2013 were studied. The expressions of Wnt2b, E-cadherin and Vimentin protein were detected by SP immunohistochemical staining. The patients were classified according to the expressions of these proteins. Analyses were conducted on the relationships of these proteins with clinical characteristics of the patients with cholangiocarcinoma. Results: The positive expression rate of Wnt2b protein in carcinoma of bile duct tissues was 90.0%, which was significantly higher than that in normal bile duct tissues (χ²=38.1, P<0.05). The positive expression rate of Wnt2b in T₃ + T₄ was significantly higher than that in T₁ + T₂ (P<0.05). There were no correlations of the expression with patients’ age, gender, tumor location and degree of tumor differentiation (P>0.05). Patients with lymph node metastasis had a significantly higher positive expression of Vimentin than patients with no lymph node metastasis, and the loss of E-cadherin expression was increased (all P<0.05). There were no relationship of the expressions of these proteins with patients’ age, gender, tumor location and degree of tumor differentiation (P>0.05). The increased expression of Wnt2b in bile duct cancer cells was related to increase in EMT marker of the positive expression of vimentin and the loss of E-cadherin expression (both P<0.05). Conclusions Wnt2b protein overexpression in cholangiocarcinoma correlated with epithelial-mesenchymal transition related markers. The Wnt2b protein was correlated with cholangiocarcinoma occurrence, development, invasion and metastasis. Wnt2b has the potential to develop into a new therapeutic target for carcinoma of bile duct.

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.

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.

Objective To introduce our experiences in ear reconstruction with Ba Da Chu Method during the past 10 years, and to summarize the operative skills and key points .Methods Generally, Ba Da Chu Method for ear reconstruction includes 3 stages:Stage 1, skin expansion in mastoid region .Stage 2, auricular reconstruction), consisting of tissue expander removal, earlobe transposition, expanded skin flap and temporal fascia flap formation , autologous costal cartilage harvest , framework fabrication and transplantation , and the wound closure .Stage 3: tragus formation , conchoplasty , and refinement of the reconstructed ear.Results From January, 2006 to December, 2015, we performed 5628 reconstructed ears for 5267 patients with congenital microtia .Follow-up period ranged from 1 to 10 years.Complications in stage 1 included hematoma , infection and expander exposure sporadically arising , which were treated properly and stage2 operations were carried out on time or delayed .5202 (92.4％) reconstructed ears were demonstrated with fine substructure landmarks .236(4.2％) reconstructed ears with poor blood circulation at the margin of skin flap , were cured completely and ended up with acceptable outcomes;108 ( 1.9％) reconstructed ears , manifestedwith mild cartilage framework exposure due to partial necrosis of skin graft , were repaired in stage 3.61 (1.1％) of them with severe exposure , needed additional operations to cover the framework with axial fascial flap immediately .21 ( 0.3％) reconstructed ears lost the normal contour because of cartilage infection , which a secondary operation was needed to repair .The complications of stage 3 occurred rarely , which could be cured in the end .Conclusions Ba Da Chu Method is well adapted to treat congenital microtia , and it is flexible to adjust surgical skills when microtia was combined with other complicated soft tissue deformities or craniofacial bone defects;Satisfactory result were achieved in 92.4％reconstructed ears in this study with fine substructures;During approximate 2-month skin expansion , great attention must be paid to ensure successful expansion , which is based on extensive clinical experiences from doctors, appropriate nursing management from nurses , and careful observation from patients or their families.

Objective To introduce our experiences in ear reconstruction with Ba Da Chu Method during the past 10 years, and to summarize the operative skills and key points .Methods Generally, Ba Da Chu Method for ear reconstruction includes 3 stages:Stage 1, skin expansion in mastoid region .Stage 2, auricular reconstruction), consisting of tissue expander removal, earlobe transposition, expanded skin flap and temporal fascia flap formation , autologous costal cartilage harvest , framework fabrication and transplantation , and the wound closure .Stage 3: tragus formation , conchoplasty , and refinement of the reconstructed ear.Results From January, 2006 to December, 2015, we performed 5628 reconstructed ears for 5267 patients with congenital microtia .Follow-up period ranged from 1 to 10 years.Complications in stage 1 included hematoma , infection and expander exposure sporadically arising , which were treated properly and stage2 operations were carried out on time or delayed .5202 (92.4％) reconstructed ears were demonstrated with fine substructure landmarks .236(4.2％) reconstructed ears with poor blood circulation at the margin of skin flap , were cured completely and ended up with acceptable outcomes;108 ( 1.9％) reconstructed ears , manifestedwith mild cartilage framework exposure due to partial necrosis of skin graft , were repaired in stage 3.61 (1.1％) of them with severe exposure , needed additional operations to cover the framework with axial fascial flap immediately .21 ( 0.3％) reconstructed ears lost the normal contour because of cartilage infection , which a secondary operation was needed to repair .The complications of stage 3 occurred rarely , which could be cured in the end .Conclusions Ba Da Chu Method is well adapted to treat congenital microtia , and it is flexible to adjust surgical skills when microtia was combined with other complicated soft tissue deformities or craniofacial bone defects;Satisfactory result were achieved in 92.4％reconstructed ears in this study with fine substructures;During approximate 2-month skin expansion , great attention must be paid to ensure successful expansion , which is based on extensive clinical experiences from doctors, appropriate nursing management from nurses , and careful observation from patients or their families.

OBJECTIVETo investigate the characteristics and incidence of the thoracic deformities in patients with microtia.

METHODSIn Plastic Surgery Hospital, we conducted a retrospective study of the clinical and radiographical data of 300 patients with microtia from March 2013 to October 2014. Pearson χ2 test was used to analyze the relationship among deformities of ribs and spine, as well as microtia.

RESULTSA total of 78 (26.0%) patients were documented with rib deformities, 26 patients (8.7%) had spinal deformities, and 17 patients (5.7% )had both. The incidence of rib deformities in microtia I, II, and III was 7.1% (2/28), 26.7% (62/232) and 35.0% (14/40) respectively. The incidence of spinal deformities in microtia I, II, and III was 3.6% (1/28), 6.5% (15/232) and 25.0% (10/40 respectively. The patients with microtia III were found to have a higher incidence of ribs and spinal deformities than those with microtia II, patients with microtia II were found to have a higher incidence of ribs and spinal deformities than those with microtia I (P < 0.05).

CONCLUSIONSThe incidence of ribs and spinal deformities is high in patients with microtia. The poorer one auricle developed, the higher the incidence of thoracic deformities.

Biomedical Research ; Congenital Microtia ; epidemiology ; Humans ; Incidence ; Retrospective Studies ; Ribs ; abnormalities ; Spine ; abnormalities