Melorheostosis is a rare disorder of osteopathia. The clinical characteristics of melorheostosis in children is totally different from that in adults. The radiographic features of melorheostosis include the hyperostosis in endosteal on the one side of the cavum medullare and formed streakiness. The soft tissue contracture of the limb and joint deformities are the symptoms of melorheostosis. Here, the authors reported a melorheostosis case of 6 years old girl who suffered from severe valgus deformity of the right knee with permanent patellar dislocation. A surgical stabilization was applied with lateral soft tissue release, medial soft tissue stabilization and transferred the vastus medialis laterally (kinetic stability). After 19 years follow up postoperatively, the limb developed well in satisfied alignment with good function of knee joints, even participated in some sports activities. Other authors reported a similar case of melorheostosis with surgical treatment and achieved good outcomes in limb realignment and reduction. The further suggested that the surgical treatment should be produced before epiphyseal closure.

Background and purpose:Physical and psychological trauma has been a challenge for both clinician and patients with breast cancer after modified radical mastectomy,and now more and more patients have begun to accept breast reconstruction,especially Ⅰ stage reconstruction after surgery.The aim of our study was to investigate a breast reconstruction procedure that can not only achieve radical tumor excision but also retain the aesthetic appearance of breast.Methods:15 patients from January 2006 to April 2007 were enrolled with early stage breast cancer have received surgical treatment with conservation of breast skin,breast tissue excision and axillary lymph nodes;latissimus dorsi muscle flap has been used for breast reconstruction.Results:The results of the 15 cases:excellent in 11 cases(83.3%),good in four cases(16.7%).Conclusions:Immediate breast reconstruction after radical mastectomy with conservation of skin has shown good results in terms of aesthetic appearance of breast,this procedure has been proved to be a safe and feasible method of treatment for the patients with early stage breast cancer.

Combined hepatocellular and cholangiocarcinoma (HCC-CC) is a rare primary hepatic neoplasm (PHN) with features of both hepatocellular and biliary differentiation. Hepatitis B and hepatitis C are the major causes of HCC-CC. Surgical treatment is the main therapeutic method for HCC-CC. For patients with unresectable lesions, curative or palliative locoregional therapy is applied, including radiofrequency ablation (RFA), transarterial chemoembolization (TACE) and supportive treatment. Because of the rare occurrence and ambiguous clinical features of HCC-CC, it is most often misdiagnosed with the other two types of primary liver cancer. Thus, the realization of the current progress of combined hepatocellular and cholangiocarcinoma is particularly important for us. This article aims to summarize the epidemiology and clinical futures, the treatment and prognosis, the progress of genetics and molecular analysis of HCC-CC.

Objective To study the SRSF2 mutations in acute myeloid leukemia (AML) patients by using high-resolution melting analysis (HRMA). Methods PCR-HRMA analysis was performed to screen SRSF2 mutations in 140 cases with AML, and the direct DNA sequencing was used to confirm the HRMA results. Results Five percent (7/140) of AML patients were found with heterozygous SRSF2 mutations, including one case of P95R mutation, two case of P95L mutation, and four cases of P95H mutation, the above mutations were confirmed by direct DNA sequencing. The maximal sensitivity of HRMA in detecting SRSF2 mutation was close to 10%. There were no difference in gender, age and blood parameters among cases with or without SRSF2 mutations (P > 0.05). The overall survival (OS) of patients with SRSF2 mutations was inferior to those without SRSF2 mutations in AML patients (P=0.016). Conclusions HRMA analysis was a convenient, rapid, specific, high-throughput technique for scanning of SRSF2 gene mutations in AML patients. SRSF2 mutation may predict the adverse prognosis in AML patients.

Objective This study was to investigate the value of CT guided 125iodine implantation combining transcatheter arterial chemoembolization(TACE) to prevent digestive tract bleeding in patients with portal vein tumor thrombus in primary hepatocellular carcinoma. Methods Forty patients with portal vein tumor thrombus which were diagnosed to have primary hepatocellular carcinomas by diagnostic criteria of Chinese Anti-Cancer Association were collected prospectively. They were divided into the treatment group and the control group, with 20 patients in each group. The treatment group was treated by TACE for hepatic tumor and 125iodine seed implantation for portal vein tumor thrombus, while the control group was treated by TACE for hepatic tumor and only given β-blockers medicines after treatment. Intraoperative and postoperative surgery-related complications were observed. Three months after surgery, enhanced abdominal CT scanning was performed to evaluate treatment effects which were divided into complete response (CR), partial response (PR), and progressive disease (PD) and stable of disease (SD), and the local tumor control rates were calculated. The bleeding rates and mortality after 3 months, 6 months, 12 months were recorded. Treatment effects of the two groups were compared with continuously correction Chi-square test, bleeding rates were compared with Fisher test, and survival rates were analyzed with Kaplan-Meier survival curve and compared with Log-rank test. Results Overall the 40 patients were treated successfully without serious surgery-related complications. In the treatment group, there were 8 patients with PR, 6 with SD and 6 with PD, and the local control rates were 40% (8/20). In the control group, there were 1 patient with PR, 6 patients with SD and 13 with PD. The difference of the local control rates was statistically significant (χ2=5.161, P=0.023).The bleeding rates at 3, 6 and 12 months were 2, 2 and 3 cases in the treatment group, for control group they were 2, 6 and 10 cases respectively. There was no statistical difference between the 3 months and 6 months bleeding rates (P values were 1.000 and 0.235), but for 12 months bleeding rates, the difference was statistically significant (P=0.041).The 1 year cumulative survival rates of the treatment group and control group were 70% (14/20) and 40% (8/20), and the difference was statistically significant (χ2=4.675, P=0.031). Conclusion The treatment of 125iodine implantation combining transcatheter arterial chemoembolization in patients with portal vein tumor thrombus in primary hepatocellular carcinoma can reduce variceal bleeding rate and improve survival rate.

Objective To investigate the methylation situation of let‐7a‐3 promoter in patients with chronic myeloid leukemia (CML) and its clinical significance .Methods The methylation level of let‐7a‐3 promoter in the bone marrow mononuclear cells of 52 CML patients and 25 controls was detected by using the real‐time quantitative methylation‐specific PCR (RQ‐PCR) .Results The non-hypomethylation of let‐7a‐3 promoter was positive in 31 cases(59 .6% ) of 52 CML patients ,while only 1 case(4% ,1/25) in the control group ,the difference between the two groups were statistically significant (P< 0 .01) .The ROC curve analysis showed that the non -hypomethylation of let‐7a‐3 has better specificity for the auxiliary diagnosis of CML .The significantly posi‐tive correlation was found between the non -methylation level of let‐7a‐3 promoter and the BCR/ABL transcription level (r=0 .641 ,P=0 .001) .In contrast ,there was no obvious correlation between the non -methylation level of let‐7a‐3 promoter and the WBC count ,platelet count and hemoglobin levels(P>0 .05) .The non-hypomethylation level of let‐7a‐3 in chronic phase and accel‐erate phase was significantly higher than that in blastic crisis of CML .Conclusion The hypomethylation level of let‐7a‐3 promoter is decreased with disease progression .

Objective To protect the transplanted islets from the host's immune system by means of immunoexclusion membranes.Methods Rat islets were isolated from Wistar rat pancreas by ductal collagenase distention, stationary digestion, and finally with the aid of dextran gradient separation. Then the islets were encapsulated in alginate-polylysine-alginate (APA) semipermeable membranes.Results In vitro studies demonstrated that encapsulated islets secreted insulin in response to glucose challenge for at least 8 weeks, which was similar to free islets. In vivo studies showed that 15 streptozotocin (STZ)-induced diabetic mice were transplanted intraperitoneally with 1000 encapsulated islets without immunosuppression. Diabetes was reversed within 3 days, and the mice remained normoglycemic for up to 160 days, with a mean xenograft survival time of 126 days. The encapsulated islets had a significantly greater effect than unencapsulated islets, which functioned for less than 8 days.Conclusions Encapsulation of pancreatic islets in semipermeable membranes can effectively prolong xenograft survival without immunosuppression in an animal model.

Objective To investigate the expression level and promoter methylation of SOX17 gene and the clinical correlations in Chinese patients with chronic myeloid leukemia ( CML ) . Methods The levels of SOX17 expression and methylation were detected by RQ-PCR and RQ-MSP. Results SOX17 expression level was significantly lower in CML compared with 30 controls (P=0.001). The area under the receiver operating characteristic (ROC) curve (AUC) was 0.748 to differentiate CML from control (P=0.001). There was a trend of correlation between SOX17 expression and bcr/abl transcript (r = 0.439,P = 0.068) in CML patients. Hypermethylation of SOX17 promoter was detected in 3 (4%) CML patients, however, there was no difference as compared with 32 controls. In our study, SOX17 hypermethylation was not corrected with its expression. Conclusion Decreased SOX17 expression is a common molecular event in CML and may be considered as an available biomarker to diagnose CML. Dysregulated SOX17 is not caused by promoter hypermethylation in CML.

Brain atlas provides a spatial reference system on which other images can be interpreted in a consistent way, and it is essential for the brain imaging research. However, because of the differences in structure between occidental and oriental brains, the brain atlas based on Western populations, e. g., the International Consortium for Brain Mapping's 154 T1 Weighted Average Atlas, may not be appropriate for other ethnic groups. Therefore, in the present study, we produce an average brain atlas which is based on the data collected from 100 healthy Chinese volunteers. The differences in brains between the Chinese population and the Western population were also investigated. Comparatively,Chinese brains are wider and shorter in size, and smaller in volume.
Asian Continental Ancestry Group ; Brain ; anatomy & histology ; physiology ; Brain Mapping ; Female ; Humans ; Imaging, Three-Dimensional ; Magnetic Resonance Imaging ; Male ; Reference Values

Objective:To explore whether there are gender differences in clinical and pathological characteristics and prognosis of young patients with rectal cancer (under 50 years old), and to analyze the risk factors affecting the prognosis of young patients with rectal cancer.Methods:The medical records of 85 young rectal cancer patients admitted to Beijing Friendship Hospital Affiliated to Capital Medical University from January 2015 to December 2020 were retrospectively collected. According to gender, they were divided into male group ( n=50) and female group ( n=35). The age was (43.67±5.50) years old, ranging from 26 to 50 years old. Primary outcome measures were sex, disease-free survival, and overall survival. Secondary outcomes were family history, body mass index (BMI), clinical stage, anemia, whether the female patient was menopausal, whether the female patient took oral estrogen, the location of the primary lesion, whether neoadjuvant therapy was performed, pathological stage, whether accompanied with vascular nerve invasion, and whether postoperative adjuvant therapy was performed. R4.0.2 software was used for statistical analysis. The measurement data with normal distribution in the collected data were expressed as mean±standard deviation ( ± s), and the comparison between groups was analyzed by t test. Count data were expressed as constituent ratio, and analyzed using the chi-square test or Fisher′s exact test. The survival curve was drawn by Kaplan-Meier method, and the difference in survival rate was tested by Log-rank test. Factors with statistical significance in univariate analysis were included in COX proportional regression model for multivariate analysis to screen independent risk factors affecting overall survival. Results:Compared with male patients, a higher proportion of young female patients with rectal cancer were diagnosed with anemia before surgery (42.9% vs 22.0%, P=0.040). The 1-year, 3-year and 5-year overall survival rates were 94.3%, 80.0% and 68.6% in young female patients, and 98.0%, 90.0% and 90.0% in young male patients, respectively. The median disease-free surival was 31.6 months for women and 34.4 months for men. Multivariate analysis showed that female( HR=3.799, 95% CI: 1.312-11.002, P=0.014)and BMI( HR=0.846, 95% CI: 0.724-0.989, P=0.036)were independent risk factors affecting the prognosis of young patients with rectal cancer. Conclusions:Young female patients have a worse prognosis than male patients. Female and BMI are independent risk factors for the prognosis of young rectal cancer patients, and gender should be the key research object of observation in young rectal cancer patients.