Objective:To investigate the clinicopathological characteristics and prognostic influencing factors in young breast cancer patients.Methods:A retrospective case series study was conducted. The clinical data of 408 young patients with breast cancer in the Fifth Medical Center of Chinese PLA General Hospital from January 2005 to December 2020 were retrospectively analyzed. The clinical characteristics and prognostic influencing factors of patients were observed. The Kaplan-Meier method was used to analyze overall survival (OS) and disease-free survival (DFS) of patients. Univariate analysis of prognostic factors was conducted by using the log-rank test, and multivariate analysis was performed by using Cox proportional risk model.Results:The median age [ M ( Q1, Q3)] of 408 young female patients with breast cancer was 36 (33, 39) years; the 5-year OS and 5-year DFS rates were 89.9%, 84.0% of 387 breast cancer patients in early and middle stage (except for stage Ⅳ). There were statistically significant differences in the 5-year OS and 5-year DFS rates (excluding stage Ⅳ of DFS) of patients with different clinical staging and molecular subtypes (all P < 0.05). The differences were statistically significant in the 5-year DFS rate of patients with different pathological types and histological grades (all P < 0.05). There were no statistically significant differences in the 5-year OS and DFS rates between the patients receiving breast-conserving surgery or mastectomy (all P > 0.05). The results of multivariate Cox regression analysis indicated that clinical staging ( HR = 3.121, 95% CI: 2.301-4.233, P < 0.001) and molecular classification ( HR = 1.441, 95% CI: 1.126-1.845, P = 0.004) were independent prognostic factors for OS. Additionally, clinical staging ( HR = 3.001, 95% CI: 2.174-4.141, P < 0.001) was identified as an independent prognostic factor for DFS. Conclusions:The prognosis of young breast cancer patients is closely related to clinical staging and molecular subtype. The later the clinical stage is, the poorer prognosis is. Luminal-type breast cancer has a better prognosis than other subtypes. For early-stage breast cancer patients who meet the criteria for breast-conserving surgery, breast-conserving surgery is the first-choice alternative.

Objective:To investigate the clinicopathological characteristics and prognostic influencing factors in young breast cancer patients.Methods:A retrospective case series study was conducted. The clinical data of 408 young patients with breast cancer in the Fifth Medical Center of Chinese PLA General Hospital from January 2005 to December 2020 were retrospectively analyzed. The clinical characteristics and prognostic influencing factors of patients were observed. The Kaplan-Meier method was used to analyze overall survival (OS) and disease-free survival (DFS) of patients. Univariate analysis of prognostic factors was conducted by using the log-rank test, and multivariate analysis was performed by using Cox proportional risk model.Results:The median age [ M ( Q1, Q3)] of 408 young female patients with breast cancer was 36 (33, 39) years; the 5-year OS and 5-year DFS rates were 89.9%, 84.0% of 387 breast cancer patients in early and middle stage (except for stage Ⅳ). There were statistically significant differences in the 5-year OS and 5-year DFS rates (excluding stage Ⅳ of DFS) of patients with different clinical staging and molecular subtypes (all P < 0.05). The differences were statistically significant in the 5-year DFS rate of patients with different pathological types and histological grades (all P < 0.05). There were no statistically significant differences in the 5-year OS and DFS rates between the patients receiving breast-conserving surgery or mastectomy (all P > 0.05). The results of multivariate Cox regression analysis indicated that clinical staging ( HR = 3.121, 95% CI: 2.301-4.233, P < 0.001) and molecular classification ( HR = 1.441, 95% CI: 1.126-1.845, P = 0.004) were independent prognostic factors for OS. Additionally, clinical staging ( HR = 3.001, 95% CI: 2.174-4.141, P < 0.001) was identified as an independent prognostic factor for DFS. Conclusions:The prognosis of young breast cancer patients is closely related to clinical staging and molecular subtype. The later the clinical stage is, the poorer prognosis is. Luminal-type breast cancer has a better prognosis than other subtypes. For early-stage breast cancer patients who meet the criteria for breast-conserving surgery, breast-conserving surgery is the first-choice alternative.

Objective:To explore the repair methods of complex facial defect wounds involving paranasal sinuses and their clinical effectiveness.Methods:A retrospective observational study was conducted. From January 2020 to May 2022, 5 patients admitted to the Department of Burns and Plastic Surgery of Xiangya Hospital of Central South University and 4 patients admitted to the Department of Burns and Plastic Surgery of Chenzhou First People's Hospital with complex facial defect wounds involving paranasal sinuses met the inclusion criteria, including 6 males and 3 females, aged 35-69 years, including 4 patients with titanium mesh exposure combined with paranasal sinuses injury and 5 patients with tumor involving paranasal sinuses. After an adequate assessment of the damage by a multiple discipline team, titanium mesh removal, paranasal sinus debridement, and paranasal sinus mucosa removal were performed in patients with exposed titanium mesh, and radical tumor resection was performed in patients with tumors, with postoperative skin and soft tissue defects areas of 5.0 cm×2.5 cm to 18.0 cm×7.0 cm, anterior paranasal sinus wall defects/absence areas of 3 cm×2 cm to 6 cm×4 cm, and sinus cavity depths of 1 to 4 cm. Depending on the perforator course of the descending branch of the lateral circumflex femoral artery, the anterolateral femoral chimeric flap or anterolateral femoral myocutaneous flap (with flap area of 9 cm×4 cm to 19 cm×8 cm, muscle size of 5 cm×3 cm×3 cm to 11 cm×6 cm×3 cm) was transplanted to repair the defect, and the donor site wound was sutured directly. The type of tissue flap transplanted, the blood vessel of the recipient area, and the vascular anastomosis way during the operation, the recovery of the donor and recipient areas and the occurrence of complications after operation were observed. The appearance and blood supply of the recipient area and the recurrence of ulcers and tumors were followed up.Results:The anterolateral femoral myocutaneous flap transplantation was performed in 6 patients, and the anterolateral femoral chimeric flap transplantation was performed in 3 patients. The blood vessels in recipient areas were facial arteries and veins in 3 cases and superficial temporal arteries and veins in 6 cases. The superficial temporal arteries and veins were bridged with blood vessels in tissue flaps by flow-through way in 2 patients, and end-to-end anastomosis of blood vessels in donor and recipient areas was performed in 7 patients. After operation, all the tissue flaps survived, and the facial defect wounds were well repaired without cerebrospinal fluid leakage or paranasal sinus secretion leakage, no intracranial infection occurred, and the wounds in donor areas were healed well. Follow-up of 6-35 months after operation showed that all the patients had good blood supply in the recipient area, and the shape was acceptable; 4 patients with exposed titanium mesh had no recurrence of ulceration, and 5 patients with tumor had no local tumor recurrence or metastasis.Conclusions:Based on an adequate assessment of the extent of paranasal sinuses involved in the facial wound and the nature of the defect, good clinical effects can be achieved by using the anterolateral femoral muscle flap or the anterolateral femoral chimeric flap transplantation to repair complex facial defect wounds with open paranasal sinuses.

Objective To understand the situation and the influencing factors of life quality in diabetic patients in Shanghai， and to develop effective intervention measures. Methods A total of 212 diabetic patients in Baoshan District， Shanghai were selected as the research objects. Diabetes specific quality of life scale （DSQL） was used to investigate the basic situation and quality of life of patients. Combined with biochemical detection indexes and questionnaire survey， data were analyzed by variance analysis and multiple linear stepwise regression analysis. Blood glucose level was assessed according to the 1999 WHO diagnostic criteria for type 2 diabetes. Results The overall quality of life score in the patients was 4.31±7.82， which was higher than the domestic norm. The best quality of life was in the dimension of physiological function with the score of 1.84±6.00， which was lower than the domestic norm. The next was the dimension of social relationship， and the worst was the dimension of treatment. The single factor analysis and multivariate analysis identified the following influence factors of quality of life in the patients： family history， educational level， exercise habit， blood glucose control and diet control. There was a negative correlation with educational level and blood glucose control， and a positive correlation with diet control. Conclusion The quality of life in the middle-aged diabetic patients was affected by the education level， blood glucose control and diet control. We suggest to strengthen the community management， health education， and improve the living habits.

Objective:To analyze the clinical features and the effects of different treatments on 5-year overall survival (OS) rate and 5-year disease free survival (DFS) rate of stage 0-Ⅲ triple-negative breast cancer (TNBC).Methods:The data of 209 patients diagnosed as stage 0-Ⅲ TNBC in Ward 2 of Department of General Surgery of the Fifth Medical Center of PLA General Hospital from January 2004 to December 2013 were selected. The relationships between the clinical features, treatments and 5-year OS rate, 5-year DFS rate were retrospectively analyzed. Kaplan-Meier method was used to draw survival curves, and Cox proportional risk model was used for multivariate analysis.Results:Univariate analysis found that clinical stage and methods of surgery were associated with 5-year OS rate ( χ2=52.615, P<0.001; χ2=17.329, P=0.001) and 5-year DFS rate ( χ2=55.112, P<0.001; χ2=18.816, P<0.001). Multivariate analysis showed that clinical stage was an independent prognostic factor of DFS ( HR=3.637, 95% CI: 2.146-6.164, P<0.001) and OS ( HR=3.545, 95% CI: 2.091-6.009, P<0.001). For the TNBC patients without axillary lymph node metastasis ( n=118), the 5-year OS rates of patients with breast conservation surgery + sentinel lymph node biopsy, total breast resection + sentinel lymph node biopsy, modified radical mastectomy and breast conserving surgery + axillary lymph node dissection were 97.6%, 97.7%, 91.4%, 100% respectively, the 5-year DFS rates were 97.3%, 94.3%, 85.8%, 100% respectively, and there were no significant differences among the four groups ( χ2=3.369, P=0.338; χ2=3.868, P=0.276). The 5-year OS rate (74.5% vs. 91.1%) and 5-year DFS rate (73.6% vs. 86.8%) were significantly different in patients receiving neoadjuvant chemotherapy ( n=106) compared with those receiving adjuvant chemotherapy ( n=80) ( χ2=4.504, P=0.034; χ2=4.683, P=0.030). The patients receiving neoadjuvant chemotherapy had later clinical stages than those receiving adjuvant chemotherapy ( χ2=35.314, P<0.001). There were no significant differences in 5-year OS rate and 5-year DFS rate between the patients receiving neoadjuvant chemotherapy and adjuvant chemotherapy with the same clinical stage (all P>0.05). The 5-year OS rates of patients with pathologic complete response (pCR), partial response (PR) and stable disease (SD) obtained by neoadjuvant chemotherapy were 100%, 75.8% and 57.1% respectively, and the 5-year DFS rates were 100%, 74.5% and 55.7% respectively, with statistically significant differences ( χ2=10.086, P=0.006; χ2=10.399, P=0.006). Between the pCR group and the PR group, the 5-year OS rate ( χ2=4.238, P=0.040) and 5-year DFS rate ( χ2=4.525, P=0.033) were significantly different. Between the pCR group and the SD group, the 5-year OS rate ( χ2=8.163, P=0.004) and 5-year DFS rate ( χ2=8.509, P=0.004) were significantly different. Between the PR group and the SD group, the 5-year OS rate ( χ2=3.931, P=0.047) and 5-year DFS rate ( χ2=3.896, P=0.048) were significantly different. Conclusion:For the patients with stage 0-Ⅲ TNBC, clinical stage is an independent prognostic factor. For the TNBC patients without axillary lymph node metastasis, breast conservation surgery + sentinel lymph node biopsy, total breast resection + sentinel lymph node biopsy, modified radical mastectomy and breast conserving surgery + axillary lymph node dissection have similar outcomes. There is no significant difference between neoadjuvant chemotherapy and adjuvant chemotherapy in the prognosis of patients with the same clinical stage, but patients with pCR or PR obtained by neoadjuvant chemotherapy can achieve better survival.

Objective:To explore the genetic causes of oocyte maturation arrest.Methods:A pair of sisters with primary infertility was collected in the Reproductive Medicine Center of Changhai Hospital, Naval Medical University in 2018. Two PATL2 mutations were found in the patients by second-generation whole genome sequencing. Then, for all members of the family and a healthy control person, the regions near the two mutation sites were amplified and sequenced by Sanger sequencing to verify the two mutations. Furthermore, the pathogenesis of the disease was explored through bioinformatics analysis. Results:Compound heterozygous mutations of PATL2 were identified in the two sisters: a missense mutation (p.V260M) and a splicing mutation (p.R75Vfs*21). Both mutations have been reported, and they both cause abnormal splicing of PATL2 mRNA, leading to abnormal gene function. Conclusion:Our study confirmed the correlation between PATL2 mutations and human oocyte maturation arrest, and it provided molecular biomarkers for oocyte and embryo quality assessment.

Objective:To explore the genetic causes of oocyte maturation arrest.Methods:A pair of sisters with primary infertility was collected in the Reproductive Medicine Center of Changhai Hospital, Naval Medical University in 2018. Two PATL2 mutations were found in the patients by second-generation whole genome sequencing. Then, for all members of the family and a healthy control person, the regions near the two mutation sites were amplified and sequenced by Sanger sequencing to verify the two mutations. Furthermore, the pathogenesis of the disease was explored through bioinformatics analysis. Results:Compound heterozygous mutations of PATL2 were identified in the two sisters: a missense mutation (p.V260M) and a splicing mutation (p.R75Vfs*21). Both mutations have been reported, and they both cause abnormal splicing of PATL2 mRNA, leading to abnormal gene function. Conclusion:Our study confirmed the correlation between PATL2 mutations and human oocyte maturation arrest, and it provided molecular biomarkers for oocyte and embryo quality assessment.

OBJECTIVE: To analyze the phenotype and genotype of a patient affected with inherited antithrombin deficiency. METHODS: All exons and exon-intron boundaries of the AT genes were subjected to PCR amplification and Sanger sequencing. The influence of variants on the disease was predicted using bioinformatic software (MutationTaster). RESULTS: The results of all coagulation tests were normal, though the antithrombin activity and antigen content of the proband and his father have decreased significantly (34%, 48% and 12.97 mg/dL, 15.60 mg/dL, respectively). His mother was normal. Genetic analysis revealed that the proband and his father both carried a heterozygous g.2736dupT variant of the AT gene. Bioinformatic analysis suggested that the variant may be pathogenic. CONCLUSION The proband and his father both had type I hereditary antithrombin deficiency caused by a g.2736dupT variant of the AT gene. The variant was unreported previously.
Antithrombin III/genetics* ; Antithrombin III Deficiency/genetics* ; DNA Mutational Analysis ; Genetic Testing ; Heterozygote ; Humans ; Male ; Mutation ; Pedigree

OBJECTIVE: To explore molecular etiology and clinical characteristics of two pedigrees affected with hereditary factor VII(FVII) deficiency. METHODS: The nine exons and flanking sequences of the F7 gene of the probands were amplified by PCR. The amplicons were analyzed by direct sequencing. Suspected mutations were subjected to SWISS-MODEL modeling and analysis of protein structure change by Pymol software and conservation of amino acids across various species. RESULTS: For proband of pedigree 1, the prothrombin time (PT), FVII activity (FVII:C) and FVII antigen (FVII:Ag) were 36.3 s, 3%, 53.56%, respectively. Sequencing revealed a compound heterozygous variants of c.80_81delCT and c.1371G>T(p.Arg439Ser). His son carried a heterozygous c.1371G>T (p.Arg439Ser) variant. For proband of pedigree 2, the PT, FVII:C and FVII:Ag were 22.3 s, 4%, 1.58%, respectively. Sequencing has revealed a compound heterozygous c.278G>T(p.Arg75Met) missense variant in exon 3 and c.1278T>G (p.His408Gln) in exon 9 of the F7 gene. His mother and son both carried a heterozygous c.278G>T(p.Arg75Met) variant. Three-dimensional simulation and homology analysis revealed that the p.Arg439Ser and p.Arg75Met can respectively alter part of hydrogen bonds and two highly conserved amino acids. CONCLUSION Two novel heterozygous missense variants of the F7 gene [c.1371G>T(p.Arg439Ser) and c.278G>T(p.Arg75Met)] probably account for the decrease of factor VII in the two pedigrees.
Asian Continental Ancestry Group ; Factor VII ; Factor VII Deficiency ; Genotype ; Heterozygote ; Humans ; Mutation ; Pedigree

OBJECTIVE: To carry out phenotypic and genotypic analysis for two Chinese pedigrees affected with coagulation factor XII (F XII) deficiency. METHODS: Plasma prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen (FIB), thrombin time (TT), and blood coagulation factor VIII, IX, XI, XII activity (FVIII:C, FIX:C, FXI:C, FXII:C) were determined with one stage clotting assay on a STAGO coagulation analyzer. FXII antigen was determined with an enzyme linked immunosorbent assay (ELISA). The 14 exons and their flanking sequences of the F12 gene were subjected to PCR amplification and Sanger sequencing. The conservation and structure of mutant protein were analyzed with MegAlign software and PYMOL software. RESULTS: The APTT of the probands was significantly prolonged, while their FXII:C and FXII:Ag were significantly reduced. Genetic analysis of the proband has revealed three novel mutations in the F12 gene, including g.5972G>A splice site mutation in intron 5, g.8810_8814delGTCTA in exon 14, and g.6259G>A (p.Pro182Leu) in exon 7. In addition, a previously known mutation IVS13-1G>A has been found. CONCLUSION Four mutations have been identified in the two Chinese pedigrees, among which three were novel. Above mutations probably played a role in the defect of FXII in the two pedigrees.
Exons ; Factor XII ; genetics ; Factor XII Deficiency ; genetics ; Genetic Testing ; Humans ; Pedigree