Objective:To find the chromosomal malfomations among microtia patients and the neighbouring genes of chromosomal aberrations or genes in the extra or deleted chromosome fragments would be screened to investigate the possible causative genes.Methods:According to the inclusion criteria, case group was selected from microtia patients referred to Plastic Surgery Hospital, Chinese Academy of Medical Science, between January 2012 and January 2014, and the control group was the normal people of similar age received plastic surgery in the same hospital in the same time who did not have any congenital genetic disease. Blood samples of two groups were collected, and genomic DNA was extracted, then copy number variation (CNV) analysis was performed in the two groups with gene chip technology and associated software for large fragment chromosomal malformations. The variations of chromosome copy number were recorded to further analyze the type and length of chromosome structure variation. The genes at the loci of break points were further screened referring to B allele frequency to interpret associated genes related to the occurrence of microtia. Fisher exact test were used for statistical analysis, and the difference was statistically significant ( P< 0.05). Results:942 patients with congenital microtia were included in the case group, 695 males and 247 females, aged (11.4±3.2) years; 1 802 normal controls, 1 290 males and 512 females, aged (11.6±4.9) years. Large chromosomal fragments variations were detected in 5 patients in chromosome in case group( P=0.003). The difference between the two groups was statistically significant( P=0.003). Three cases were found to carry an extra X chromosome. Among the 3 cases, one patient suffered from XXY karyotype and the other 2 patients X trisomy. Two cases were proved to be associated with chromosome structural variations. The malformations of the first case presented partial duplication of the long arm of chromosome 13 and 14. On searching for causative genes, OTX2, BMP4 and GSC were detected to be in the chromosome structural variations. The second case presented to be partial duplication of the long arm of chromosome 5. FGF pathway associated genes FGF18, FGFR4, FGF1 and BMP pathway associated genes FST, MSX2, SMAD5 were incorporated in the extra duplicated chromosome for possible gene dosage effect. Conclusions:The results indicated the possible association of chromosome abnormity and microtia and provide new insights in microtia-associated chromosome instability. Ten related genes were involved in the occurrence of microtia through various ways.

Objective:To find the chromosomal malfomations among microtia patients and the neighbouring genes of chromosomal aberrations or genes in the extra or deleted chromosome fragments would be screened to investigate the possible causative genes.Methods:According to the inclusion criteria, case group was selected from microtia patients referred to Plastic Surgery Hospital, Chinese Academy of Medical Science, between January 2012 and January 2014, and the control group was the normal people of similar age received plastic surgery in the same hospital in the same time who did not have any congenital genetic disease. Blood samples of two groups were collected, and genomic DNA was extracted, then copy number variation (CNV) analysis was performed in the two groups with gene chip technology and associated software for large fragment chromosomal malformations. The variations of chromosome copy number were recorded to further analyze the type and length of chromosome structure variation. The genes at the loci of break points were further screened referring to B allele frequency to interpret associated genes related to the occurrence of microtia. Fisher exact test were used for statistical analysis, and the difference was statistically significant ( P< 0.05). Results:942 patients with congenital microtia were included in the case group, 695 males and 247 females, aged (11.4±3.2) years; 1 802 normal controls, 1 290 males and 512 females, aged (11.6±4.9) years. Large chromosomal fragments variations were detected in 5 patients in chromosome in case group( P=0.003). The difference between the two groups was statistically significant( P=0.003). Three cases were found to carry an extra X chromosome. Among the 3 cases, one patient suffered from XXY karyotype and the other 2 patients X trisomy. Two cases were proved to be associated with chromosome structural variations. The malformations of the first case presented partial duplication of the long arm of chromosome 13 and 14. On searching for causative genes, OTX2, BMP4 and GSC were detected to be in the chromosome structural variations. The second case presented to be partial duplication of the long arm of chromosome 5. FGF pathway associated genes FGF18, FGFR4, FGF1 and BMP pathway associated genes FST, MSX2, SMAD5 were incorporated in the extra duplicated chromosome for possible gene dosage effect. Conclusions:The results indicated the possible association of chromosome abnormity and microtia and provide new insights in microtia-associated chromosome instability. Ten related genes were involved in the occurrence of microtia through various ways.

Objective To determine the predictive parameters of impacted ureteral stones and evaluate the predictive value of ureteral wall thickness for impacted ureteral stones.Methods A total of 93 patients with proximal ureteral stones from January 2017 to December 2017 were included in the study [71 males and 22 females,aged 30-80 years,and body mass index (23.7 ± 2.7) kg/m2].Both clinical and computed tomography urography (CTU) data were compared between patients with or without impacted ureteral stone,including sex,age,body mass index,renal pelvic diameter,longitudinal size of stone,transverse size of stone,stone surface area,stone volume,hounsfield units of stone,diameter of the ureter proximal to the stone,and ureteral wall thickness at the impacted ureteral stone site.The receiver operating characteristic curve (ROC) was used to analyze the performance of each of the above-mentioned parameters for predicting the impacted ureteral stones.Multivariate logistic regression analysis was used to select the independent risk factors of impacted ureteral stones.Results Among 93 patients,38 (40.8％) patients were with impacted stones and 55 (59.1％) without impacted stones.Univariate analysis showed significant difference in ureteral wall thickness (t =6.344,P ＜ 0.001),diameter of the ureter proximal to the stone (U =607.5,P =0.001),longitudinal size of stone(U =580.5,P ＜0.001),transverse size of stone(t =4.172,P ＜0.001),stone surface area(U =508.5,P ＜ 0.001),stone volume (U =508.5,P ＜ 0.001) and hounsfield units of stone (t =6.344,P =0.006) between patients with or without impacted stones.Ureteral wall thickness(UWT)showed the largest area under curve (AUC) among those parameters (AUC =0.825,P ＜ 0.001),followed by stone surface area and stone volume.The optimal cut-off value of ureteral wall thickness was 3.16 mm,with sensitivity of 71.1％ and specificity of 85.5％.Multivariate analysis showed that ureteral wall thickness (Wald =18.709,P ＜ 0.001) and stone volume (Wald =8.391,P =0.004) were independent predictors of impacted stones.Conclusion Ureteral wall thickness was related to the presence of impacted ureteral stones and could be used for predicting impacted ureteral stones.

Objective: To improve the diagnosis and treatment of primary adrenal cortical carcinoma. Methods: The clinical and pathological data of 11 patients who diagnosed as primary adrenal cortical carcinoma by pathology were retrospectively analyzed.The median age was 43 years, including 6 males, 5 females.7 cases(63.6%) got the tumor on the left.9 cases(81.8%) presented the maximum diameter of tumor more than 6 cm, and the average maximum diameter was 12.9 cm.All cases had CT or MRI imaging examination.Among most of them, CT showed mixed density lesions, or MRI showed mixed signal.Only 3 cases(27.3%) were considered adrenal cortical cancer through preoperative examinations. Results: 11 patients were treated with surgical treatment.Of them, 9 cases(81.8%) had complete resection of tumor.3 cases were lost to follow-up, while other 8 cases were followed up for 5-58 months.3 cases presented tumor-specific death at 5-15 months after surgery, with each 1 case in AJCC stage Ⅱ, Ⅲ and Ⅳ, respectively.Survive were in 5cases, and 3cases of them were tumor-free survival, while the other 2 cases of them had local recurrence. Conclusion Adrenal cortical carcinoma is very difficult to diagnose preoperatively.Adrenal cortical cancer should be considered when tumor size more than 4cm and tumor presenting inhomogeneous enhancement.Then, the surgical treatment should be performed as soon as possible, and as appropriate, chemotherapy and other comprehensive treatment should be given subsequently.Clinical and basic research such as genes test may provide more treatment options for advanced tumors in future.

We integrate web-based learning with team based learning,which is called WTBL method (Web-based and team-based Learning). WTBL method is constructed and applied to the teaching practice of core curriculum group courses of clinical medicine. We build some small private online courses. The students can preview online and do the case discussions by teamwork in class. The application of WTBL teaching method has realized the flipping of classroom, and helps to enhance students' self-learning ability and teamwork ability.

Objective To summarize the therapeutic effect of combined treatment for children hemifacial microsomia.Methods From Aug 2008 to May 2016, 108 children with hemifacial microsomia underwent combined treatment at an early age .Digital simultation technology was used for design of the guiding model during osteotomy .The mandibular distraction osteogenesis , auricular reconstruction and orthodontic treatment were also adopted .The maxillary development and post-distraction relapse were analyzed during the follow-up period.Results The distractor fell off in 3 cases.All other patients got obvious improvement in facial symmetry , auricular deformity and occlusion .During the follow-up period of 6 -39 months, the development of maxilla on the affected side increased significantly .Though the distracted mandible showed some certain relapse , but the facial asymmetry and occlusion improved a lot . Conclusions The children hemifacial microsomia should receive a combined treatment at an early age to achieve a goodresult .

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 summarize the therapeutic effect of combined treatment for children hemifacial microsomia.Methods From Aug 2008 to May 2016, 108 children with hemifacial microsomia underwent combined treatment at an early age .Digital simultation technology was used for design of the guiding model during osteotomy .The mandibular distraction osteogenesis , auricular reconstruction and orthodontic treatment were also adopted .The maxillary development and post-distraction relapse were analyzed during the follow-up period.Results The distractor fell off in 3 cases.All other patients got obvious improvement in facial symmetry , auricular deformity and occlusion .During the follow-up period of 6 -39 months, the development of maxilla on the affected side increased significantly .Though the distracted mandible showed some certain relapse , but the facial asymmetry and occlusion improved a lot . Conclusions The children hemifacial microsomia should receive a combined treatment at an early age to achieve a goodresult .

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 There is a high occurrence rate of thalassaemia in Guangdong Province .Major and intermedia thalas-saemia bring severe burden for patients , families, and societies.This study aimed to reveal the economic burden of thalassaemia major and intermedia thalassaemia in Guangdong Province . Methods Eight areas of Guangdong Province were selected as the sampling ar-eas.Patients with major or intermedia thalassaemia were enrolled in the study .The patients′economic burden of this disease , inclu-ding direct economic burden , indirect economic burden and intangible economic burden was calcultated .The direct economic burden was estimated by outpatient fee , hospitalization expense , nutrition and transportation fees , indirect economic burden was evaluated u-sing disability adjusted life years ( DALY) combined with human capital , and intangible economic burden was calculated using method of willingness. Results Per average annual direct economic burden of 45 patients with major or intermedia thalassaemia was 43 058.66 yuan, per average annual indirect economic burden was 20 474.51 yuan, and per person intangible economic burden was 302 466.67 yuan. Conclusion Economic burden of major and intermedia thalassaemia is huge and most patients do not receive standardized treatment .More effective way should be taken to reduce the economic burden of thalassaemia and help the patients to re -ceive standardized treatment .