Objective:To investigate the germline mutation status in multi-pathway in Chinese female breast cancer patients and explore their correlation with clinicopathological characteristics. Aim to enrich the database of breast cancer germline gene mutations in Chinese population and provide laboratory evidence for the application of breast cancer targeted drugs.Methods:From January 2017 to July 2019, whole blood samples were collected from 148 women (age of onset concentrated in the 24~80 years old) diagnosed pathologically with breast cancer in the Department of breast surgery, Peking University People′s Hospital. Germline mutations in HR, MMR, BER, and KDR pathway related genes were detected by next-generation sequencing. The pathogenicity interpretation was performed, and pathogenic, likely pathogenic, and mutations of uncertain significance were screened. The clinicopathological characteristics including age at the onset, luminal typing, tumor size, metastasis, and family history were analyzed, and the correlation between mutations in different pathway genes and clinicopathological characteristics was analyzed by the Chi-squared test and Fisher′s exact probability test.Results:Among the 148 patients, there were 69 cases of HR mutations (including three types of mutations, including pathogenic, likely pathogenic and uncertain significance), 16 cases of MMR mutations, 6 cases of BER mutations and 8 cases of KDR mutation. ATM mutations in the HR pathway were associated with luminal typing ( P=0.054), and patients with HER2+breast cancer were more likely to carry ATM mutations. PMS2 mutations in the MMR pathway were correlated with tumor size ( P=0.060), and patients with tumor size>50 mm were more likely to carry PMS2 mutations. KDR mutations was significantly correlated with luminal typing and family history. ( P=0.021, P=0.024). Conclusion:The mutation frequency in BER, KDR, MMR and HR pathways in Chinese breast cancer patients increased successively. Germline mutations in ATM, PMS2 and KDR genes may be involved in the development of breast cancer in the Chinese population. Multi-pathway gene detection of breast cancer can provide laboratory evidence for the use of PARP inhibitors, trastuzumab and other targeted drugs.

Objective:To analyze the influencing factors of community hospice care service needs of the elderly based on structural equation model.Methods:A multi-stage sampling method was used to survey 564 elderly people from 40 community health service centers in four districts of Chaoyang District in Beijing from September to November 2020 with a self-designed questionnaire. The survey content included three dimensions: tendency characteristics (population characteristics, health beliefs), enabling resources and demand factors. The chi-square test and rank sum test were used to analyze the influencing factors of the community hospice care needs of the elderly. At the same time, based on Anderson theory, structural equation model was used to analyze the action path and effect size of the influencing factors.Results:Registered residence, occupation, understanding of community elderly care services, recognition of community medical convenience, recognition of community health services in reducing family burden, recognition of community health services in improving their own health, understanding of community hospice care services, mean monthly income of their families, degree of income satisfaction, self-paid medical expenses of the previous year, living status, acceptance of community medical expenses, satisfaction with the number of community medical staff, self-assessment of health status, whether the elderly was ill in the last two weeks and the number of chronic diseases and etc affected the needs of the elderly for community hospice care services (all P<0.05). In the three dimensions of Anderson model, enabling resources had a direct effect, and could also be affected by demand factors indirectly, the total effect value was 0.404; demand factors had direct impact, and the effect value was 0.193; propensity characteristics exerted impact indirectly through enabling resources and demand factors, and the total effect value was 0.176. Among them, the acceptance of community health service fees in the enabling resource dimension has the greatest impact (FL=0.535), the number of chronic disease in the demand factor dimension had the greatest impact (FL=1.018), and the recognition of community health service in reducing family burden in the propensity characteristic dimension had the greatest impact (FL=0.612) (all P<0.05). Conclusions:There are various factors and action paths that affect the needs of community hospice care services for the elderly. Among them, the acceptance of community health service fees, the number of chronic disease, and the recognition of community health service in reducing family burden have a greater impact.

Objective:To know the clinical characteristics, seasonal pattern and influencing factors of atypical depression(AD) patients.Methods:A total of 203 depressed outpatients of Peking University Sixth Hospital from January 2021 to August 2021 were included.They were assessed with demographic questionnaire, inventory of depressive symptomatology self-report(IDS-SR30) and seasonal pattern assessment questionnaire(SPAQ). According the score of IDS-SR30, all patients were classified as atypical depression(AD) and non-atypical depression(non-AD). The data were analyzed by t-test, non-parametric test and Logistic regression using SPSS 26.0 software. Results:The prevalence of AD among depressed patients was 36.0% (95% CI=29.3%-42.6%). The IDS-30 score of the AD group was (41.59±10.59), and IDS-30 score of the non-AD group was (36.08±13.17), and the difference between the two groups was statistically significant ( t=3.062, P<0.05). The global seasonal score of the AD group was 6 (3, 9), and 17.8% of the AD group had seasonal pattren.The global seasonal score of the non-AD group was 5 (3, 8), and 14.6% of the non-AD group had seasonal pattern.There was no significant difference in the global seasonal score and the proportion of seasonal pattern between the two groups ( Z=0.389, χ2=0.359, P>0.05). Depression patients who were females ( β=1.08, OR=2.95, 95% CI=1.32-6.59, P<0.05), low self-evaluation ( β=0.82, OR=2.27, 95% CI=1.12-4.59, P<0.05)and psychomotor retardation ( β=0.93, OR=2.54, 95% CI=1.33-4.85, P<0.05) were more likely to be diagnosed as AD, and depression patients having mood variation ( β=-0.94, OR=0.39, 95% CI=0.19-0.81, P<0.05) were more likely to be diagnosed as non-AD. Conclusion:Women, low self-evaluation, psychomotor retardation and unobvious mood variation can predict and help to diagnose atypical depression in depressed patients.

High-throughput sequencing has the characteristics of complex experimental procedures, multiple quality control nodes, and a high proportion of bioinformatics technology. It is difficult to uniformly management and reuse the related detection samples and data. In May 2023, a tertiary hospital launched the construction of a localized high-throughput sequencing management system. Based on the design principles of security, friendliness, compatibility, and scalability, the management system had established three core modules: standardized data collection integration, clinical high-throughput sequencing full process management, and scientific research services, as well as a large clinical high-throughput sequencing database of hospital. By connecting with big data storage devices, local and third-party high-throughput sequencing detection platforms, sample libraries, and user terminals, this system broke down the data barriers of high-throughput sequencing related systems and devices, and met the different application scenarios of physician users, technician users, management users, and scientific research users in the hospital. As of October 2023, the system had been integrated with two high-throughput sequencing manufacturer devices in a public network environment and hospital information systems in an internal network environment, improving data retrieval efficiency and achieving closed-loop management of high-throughput sequencing detection projects preliminary, which can provided references for promoting the standardized management of high-throughput sequencing projects in hospitals in China.

Objective:To investigate the risk factors related to successful endovascular recanalization for non-acute long segmental occlusion of internal carotid artery and propose a strategy for selecting proper candidates for such procedure.Methods:From January 2018 to October 2022, 120 consecutive patients with non-acute long segmental internal carotid artery occlusion received the first intended endovascular recanalization treatment in the First Affiliated Hospital of Zhengzhou University. Potential variables including epidemiology, symptomatology, angiographic morphology and interventional techniques were retrospectively analyzed. Univariate and multivariate logistic regression analyses were made to investigate the independent risk factors for successful recanalization. Four types were divided according to the existence of tapered stump and ophthalmic artery flow reversion based on DSA images: A: tapered stump (-), ophthalmic artery flow reversion (-); B: tapered stump (-), ophthalmic artery flow reversion (+); C: tapered stump (+), ophthalmic artery reversion (-); D: tapered stump (+), ophthalmic artery (+). Investigation of the relationship between procedure success rate and group dividing was performed.Results:Totally 120 patients were all included. The technical success rate was 75.83% (91/120). The periprocedural complication rate was 9.17% (11/120), including 4 (3.33%) intracranial hemorrhagic events, 1 (0.83%) ischemic stroke event, 1 (0.83%) microcatheter perforation, 3 (2.75%) cavernous carotid fistulas, 2 (1.67%) iatrogenic dissections. None of these complications led to severe neurological damage or death. Through multivariate logistic regression, tapered stump (OR=4.10, 95%CI 1.19-14.16), retrograde filling of ophthalmic artery (OR=3.16, 95%CI 1.13-8.88), only cervical segment occlusion of internal carotid artery (OR=10.78, 95%CI 2.08-55.74) were the independent risk factors associated with higher technical success rate. All cases were divided into A-D four types considering the tapered stump and reversed ophthalmic flow existing or not. Technical success rates in A-D types were 30.00% (3/10), 66.67% (8/12), 70.00% (28/40), 89.66% (52/58) respectively, and the complication rates of the four types were 10.00% (1/10), 8.33% (1/12), 17.50% (7/40), 3.45% (2/58). Multivariate logistic regression showed group pattern was the independent factor on technical success rate (OR=3.72, 95%CI 1.42-9.77).Conclusions:Tapered stump, reversed ophthalmic artery flow and pure extracranial artery occlusion are the independent factors for technical success rate. Group pattern which covered the tapered stump and reversed ophthalmic artery flow is also related to technical success rate. However, the results need further confirmation with the prospective trial and a larger sample.

Objective To investigate the applied value of routine ultrasound and shear wave elastography (SWE) in the comparison between triple negative breast cancer ( TNBC) and non-triple negative breast cancer (non-TNBC) . Methods A total of 120 lesions in 120 patients with pathologically confirmed breast cancer were retrospectively reviewed ,which were examined by routine ultrasound and SWE before surgery . According to immunohistochemical analysis ,those were divided into TNBC group and non-TNBC group . The features of routine ultrasound ( including shape ,orientation ,margin ,boundary ,echo pattern ,microcalcification ,posterior features of each lesion and blood flow characteristics) and the SWE index[including the average value of the lesion stiffness(Emean) ,the maximum value (Emax) ,the minimum value (Emin) ,the standard deviation (SD) ,and the ratio of the normal breast gland tissue (Eratio)] in the two groups were analyzed and compared . Results ① Two-dimensional ultrasound :TNBC lesions mostly showed the margin of microlobulated ,abrupt boundaries and no internal microcalcification ,but non-TNBC lesions were more likely to have an angular or spiculated margin ,an echogenic halo of boundary and a few microcalcification in the interior ,which were statistically different( P ＜0 .05) . The grade of blood flow and resistance index between TNBC and non-TNBC group showed no statistical difference( P ＞0 .05) . ② The values of Emax ,Emean and Eratio were statistically different( P ＜0 .05) ,with AUCs of 0 .811 ,0 .781 ,and 0 .770 , respectively . Conclusions Routine ultrasound and SWE can comprehensively analyze the morphology ,blood flow and stiffness features of breast lesions ,which provides more valid information to identify T NBC and non-T NBC .

Objective To investigate the value of F-actin autoantibodies in the serum of patients with systemic lupus erythematosus (SLE),and to explore the relationships between F-actin autoantibodies and other clinical indicators.Methods ELISA was established to detect serum levels of F-actin autoantibodies in 93 inpatients with SLE from March 2017 to January 2018 (case group,n=93),72 patients with rheumatoid arthritis (RA) (disease control group) and 83 healthy subjects (healthy control group) were included during the same period.The positive rates of F-actin autoantibodies between the case group and the two control group were compared.Clinical data including SLE disease activity index (SLEDAI),immuno-globulin (lg)G,erythrocyte sedimentation rate (ESR),anti-dsDNA,and antinuclear antibody (ANA) of 93 patients with SLE were collected and the correlation analysis between F-actin autoantibodies units was applied respectively.The diagnostic performance of F-actin autoantibodies in SLE was analyzed by using the receiver operating characteristic curve (ROC).T test,Chi-square test and Spearman/Pearson correlation analysis were applied for statistical analysis.Results The serum levels of F-actin autoantibodies in the SLE case group,disease control group,and healthy control group were (18±13),(12±6),and (11±5) U,respectively,the differences between SLE case group and disease control group,and healthy control group were significant (t=3.163,P=0.001 9;t=4.436,P＜0.01).The positive rates of F-actin autoantibodies were 33％(31/93) in patients with SLE,10％(7/72) in disease control group,and 4％(3/83) in healthy control group.The F-actin autoanti-bodies units in SLE were correlated with SLEDAI,IgG,ESR,anti-dsDNA,and ANA (r=0.273 7,P=0.008 3;r=0.558 7,P＜0.01;r=0.419 9,P=0.000 1,r=0.351 4,P=0.001 1,r=0.460 9,P＜0.01),in which F-actin autoantibodies units showed significant correlation with IgG and ANA.In the ROC curve,the area under the curve(AUC) was 0.62 [95％CI(0.54,0.70)],P=0.001 3.which was statistically significant.When the cut-off value of the F-actin autoantibodies was 14.04 U,the Youden's index (YI) was the largest (YI=0.30),and the sen-sitivity for the diagnosis of SLE was 0.77,the specificity was 0.53.Conclusion The positive rate of F-actin autoantibodies in the serum of patients with SLE is higher than that of RA and healthy controls,so it has certain diagnostic value for SLE.The F-actin autoantibodies units is correlated with both SLEDAI,ESR,and anti-dsDNA,suggesting that F-actin autoantibodies units may be a new biomarker for disease activity assessment of SLE patients.

Osteonecrosis of the femoral head (ONFH) is one of the common and difficult-to-treat orthopedic diseases caused by a variety of factors that lead to abnormal blood flow to the femoral head, which in turn leads to deformation and collapse of the femoral head and eventually results in severe hip joint dysfunction. The key to the treatment is early diagnosis and correct treatment according to the stage classification and active prevention of further aggravation of ONFH aiming to delay or avoid hip replacement surgery in young and middle-aged patients. At present, there are various non-surgical and surgical hip-preserving modalities for early ONFH, designed to slow down the progression of the disease, prevent the femoral head from collapsing and stop the mild collapse. In recent years, with the emergence and development of bone reconstruction biomaterials, artificial bone reconstruction after scraping of ONFH lesions has shown great potential in the treatment of early ONFH. The authors review the research progress in hip-preserving modalities for early ONFH in young and middle-aged patients from non-surgical and surgical perspectives, hoping to provide a reference for clinical treatment of early ONFH.

Objective To investigate the radiation induced pulmonary fibrosis with a dose-response mouse model, based on the CT image changes of pulmonary fibrosis.Methods Female C57BL6 mice aged 8-10 weeks were randomly divided into 20 Gy or escalated doses of X-ray whole thoracic irradiation ( WTI) groups. CT scan was performed at different time points before and after radiation. The average lung density and lung volume changes were obtained by three-dimensional segmentation algorithm. After gene chip and pathological validation, the parameters of CT scan were subject to the establishment of logistic regression model. Results At the endpoint of 24 weeks post-irradiation, the lung density in the 20 Gy irradiation group was (-289.81± 12.06) HU, significantly increased compared with (-377.97± 6.24) HU in the control group ( P<0.001) . The lung volume was ( 0.66±0.01) cm3 in the control group, significantly larger than ( 0.44±0.03) cm3 in the irradiated mice ( P<0.001) . The results of quantitative imaging analysis were in accordance with the findings of HE and Mason staining, which were positively correlated with the fibrosis-related biomarkers at the transcriptional level ( all R2=0.75, all P<0.001) . The ED50 for increased lung density was found to be ( 13.64± 0.14) Gy ( R2=0.99, P<0.001) and ( 16.17± 4.36) Gy ( R2=0.89, P<0.001) for decreased lung volume according to the logistic regression model. Conclusions Quantitative CT measurement of lung density and volume are reliable imaging parameters to evaluate the degree of radiation-induced pulmonary fibrosis in mouse models. The dose-response mouse models with pulmonary fibrosis changes can provide experimental basis for comparative analysis of high-dose hypofractioned irradiation-and half-lung irradiation-induced pulmonary fibrosis.

Objective:To evaluate the necessity, safety and efficacy of endovascular treatment for cerebral infarction caused by middle cerebral artery (MCA) stenosis with hypoperfusion in the blood supply area of the lenticulostriate artery.Methods:The clinical and surgical data of patients with MCA atherosclerotic disease who underwent endovascular treatment in the First Affiliated Hospital of Zhengzhou University from January 2014 to October 2021 were retrospectively analyzed. A total of 6 patients with cerebral infarction caused by MCA stenosis with hypoperfusion in the blood supply area of the lenticulostriate artery were selected. The preoperative and postoperative clinical imaging characteristics, perioperative complications and follow-up of these 6 patients were summarized and evaluated.Results:After the endovascular treatment, the imaging of the lenticulostriate artery in all the 6 patients was clearer than that before the operation, and the number of main trunks of the lenticulostriate artery shown by imaging in 2 patients was more than that before operation. The computer tomography perfusion of 6 patients after the endovascular treatment showed that perfusion in the supply area of the lenticulostriate artery was significantly improved compared with pre-operation. No stroke, transient ischemic attack (TIA) and death occurred during the perioperative period. The time of clinical follow-up was 360 (322, 495) days, and there were no stroke, TIA or death occurring in the corresponding artery. All the 6 patients underwent imaging follow-up, of which 3 patients underwent digital subtraction angiography and 3 underwent CT angiography. The lumen of the target vessels showed patency in all patients.Conclusions:With rigorous imaging evaluation, endovascular treatment may be safe and effective for cerebral infarction caused by MCA stenosis with hypoperfusion in the blood supply area of the lenticulostriate artery.