Objective:To analyze the clinicopathological features of prostate cancers with BRCA2 pathogenic mutations, and the association between BRCA2 pathogenic mutation and clinicopathological characteristics. Patient survivals were also examined.Methods:Clinicopathological data of 249 prostate cancer patients who underwent genetic testing in West China Hospital of Sichuan University, Chengdu, China from June 2014 to August 2021 were collected. A retrospective analysis of histopathological morphology, clinicopathological characteristics, and patient survivals was conducted.Results:The genetic testing in the 249 prostate cancer patients showed a pathogenic mutation of DNA damage repair gene (DRG) in 73 cases (73/249, 29.3%), including 22 cases (8.8%) with BRCA2 pathogenic mutation and 51 cases with pathogenic mutations of other DRG. Among the 22 patients with BRCA2 pathogenic mutation, 14 patients (5.6%) harbored germline mutations and 8 patients (3.2%) somatic mutations. Their ages ranged from 48 to 91 years, with a median of 67 years. Seventeen patients (77.3%) had distant metastasis, including 16 cases with bone metastasis and 1 case with multiple metastases. Thirteen patients (59.1%) were castration-resistant prostate cancer. The histological type was mainly classical prostatic acinar adenocarcinoma, including 16 cases (72.7%) with intraductal carcinoma of the prostate (IDC-P). Six cases (27.3%) showed focal neuroendocrine differentiation. Perineural/vascular invasion and extraprostatic extension were seen in 11 cases (50.0%) and 8 cases (36.4%), respectively. The Gleason scores of 19 patients (86.4%) were≥8. IDC-P was more commonly found in patients with BRCA2 germline pathogenic mutation than those with BRCA2 somatic pathogenic mutation, other DRG pathogenic mutation or no-DRG pathogenic mutation ( P=0.002). With a total follow-up time of 189 months, the median overall survival (OS) was 132.3 months. Patients with DRG pathogenic mutation had shorter OS than those with no-DRG pathogenic mutation ( P=0.040). The OS of patients with BRCA2 germline pathogenic mutation did not significantly differ from that of patients with BRCA2 somatic pathogenic mutation, other DRG pathogenic mutation or no-DRG pathogenic mutation ( P=0.216). Conclusions:The presence of BRCA2 gene pathogenic mutation is common in the prostate cancers with high Gleason grade, advanced clinical stage, and castration resistance. IDC-P is more commonly noted in cases with BRCA2 germline pathogenic mutation than those without. Patients with DRG pathogenic mutation have shorter OS than those with no-DRG pathogenic mutation, but there is no significant association between BRCA2 pathogenic mutations and OS.

【Objective】 To explore the precautions of pre-transfusion examination in patients with antibodies to erythrocyte protective solution, discrepant ABO blood typing results, and positive unexpected antibodies, so as to ensure the safety of blood transfusion. 【Methods】 The screen cells were divided into two groups according to the presence or absence of washing reagent red blood cells in normal saline. One group had untreated forward typing cells, antibody screening cells and identification panel, and the other group had saline-washed reverse typing cells, antibody screening cells and identification panel. The experiments were carried out by microcolumn gel method, saline medium method and polyamine method to analyze the effect of red blood cell preservation solution on serum agglutination reaction of specific patients. 【Results】 Among the 8 patients, forward typing was AB (+ ) in 1 patient, B (+ ) in 4, and A(+ ) in 3, and the reverse typing were interfered. The plasma of 8 patients agglutinated with unwashed reverse typing cells (saline tube method), screen cells and identification panels (saline tube method plus cassette method), while not agglutinated with the polybrene method. The interference was eliminated as using washed reverse typing cells (salinetube method), screen cells and identification panels (saline tube method plus cassette method). 【Conclusion】 The erythrocyte preservation solution affected patients’ blood group typing, but not affected the outcome of blood transfusion as no adverse reactions occurred.

Objective:Standardized sample resources and high-quality clinical big data are important resources for medical research, only through resource sharing can maximize its utilization.Which can be utilized to the max only through resource sharing.Methods:This paper attempts to explore the sharing mechanism of the resource sharing platform and proposes some aspects such as the platform construction background, management regulations, legal ethical system, data sharing principles, benefit distribution, etc.This article attempts to explore the sharing mechanism based on the resource sharing platform of the respiratory disease biobank, proposes the contents that should be included in the sharing mode.Detailed information including the platform construction background, management procedures, legal and ethical system, data sharing principles and benefit distribution should take into consideration in the operating mechanism of the platform.Results:Establishing a resource sharing platform matches the development of clinical research in China.The tailored sharing model which is suitable for the field of respiratory diseases will also guide the rapid development of clinical research.Conclusions:The construction of a respiratory disease biobank sharing platform is conducive to promoting the opening and sharing of biological samples and information resources in the context of big data.

Objective:The aMAP score is a hepatocellular carcinoma (HCC) risk prediction model based on an international cooperative cohort, which can be applied to various liver diseases. The aim of this study is to use the aMAP score to stratify the risk of HCC in patients with chronic liver disease (combined or non-combined metabolic diseases) admitted to People's Hospital of Yudu County, Ganzhou City, Jiangxi Province, in order to guide personalized HCC screening.Methods:The demographic information, laboratory test results (platelets, albumin, and total bilirubin) and combined disease information of patients with chronic liver disease who were admitted to People's Hospital of Yudu from January 2016 to December 2020 were collected, and the aMAP score was calculated to stratify HCC risk in this population.Results:A total of 3629 cases with chronic liver disease were included in the analysis, including 3 452 (95.1%) cases with hepatitis B virus (HBV) infection, 177 (4.9%) cases with fatty liver, and 22 (0.6%) cases with HBV infection and fatty liver. There were 2 679 (73.8%) male and the median age was 44 (35, 54). In the overall population, low, medium and high risk of HCC accounted for 52.6%, 29.0%, and 18.4% respectively. In the HBV-infected population, the proportion of high risk of HCC was significantly higher than that of fatty liver (18.9% vs. 9.6%, P = 0.001). The proportion of chronic liver disease patients with combined hypertension or diabetes was significantly higher than that of those with non-combined metabolic diseases (combined hypertension: 32.3% vs. 17.9%, P < 0.001; combined diabetes: 36.5% vs. 18.1%, P < 0.001). Moreover, the proportion of high-risk population with two metabolic diseases was significantly higher than that with one and no metabolic diseases (40.9% vs. 31.8% vs. 17.7%, P < 0.001). Conclusion:The aMAP score can be used as a simple tool for HCC screening and management of chronic liver disease in primary hospitals, and it is helpful to improve the personalized follow-up management system of chronic liver disease population. Chronic liver disease patients with metabolic diseases have a higher risk of HCC, and people with high risk of HCC should be given special priority in follow-up visits, so as to improve the rate of HCC early diagnosis and reduce the mortality rate.

Objective: To determine the prognostic value of the intraductal carcinoma of the prostate IDC-P in metastatic prostate cancer (mPCa) patients of different subgroups. Methods: Data of 582 de novo mPCa patients between January 2011 and December 2017 diagnosed at Departments of Urology, West China Hospital, Sichuan University were retrospectively analyzed. The age was (70±8) years (range: 45 to 89 years). IDC-P was identified from 12-core prostate biopsy. The prognostic role of IDC-P was assessed by Kaplan-Meier curves and Cox regression. Subgroup analysis was conducted by the forest plot. The endpoints were castration-resistant prostate cancer free survival (CFS) and overall survival (OS). Results: In total, 177/582 (30.4%) patients harbored IDC-P. Patients with IDC-P had poorer CFS and OS than those without IDC-P (mCFS: 12.1 months vs. 16.9 months, P=0.000; mOS: 39.7 months vs. not reached, P=0.000). Multivariate Cox regression analysis indicated that, the existence of IDC-P was an independent prognosticator of both CFS (HR=1.40, 95% CI: 1.10 to 1.79, P=0.006) and OS (HR=1.51, 95% CI: 1.02 to 2.25, P=0.041). Subanalysis indicated that, in most subgroups, IDC-P was an adverse prognosticator of both CFS and OS. Even in subgroups with adverse clinicopathological features, e.g. Gleason score 9 to 10 (CFS: HR=1.467, P=0.007; OS: HR=1.807, P=0.013), baseline prostate specific antigen≥50 μg/L (CFS: HR=1.616, P=0.000; OS: HR=1.749, P=0.006), anemia (CFS: HR=1.653, P=0.036; OS: HR=2.100, P=0.038), alkaline phosphatase≥160 U/L (CFS: HR=1.326, P=0.038; OS: HR=1.725, P=0.010) or abnormal lactate dehydrogenase level (CFS: HR=1.614, P=0.001; OS: HR=1.900, P=0.003), IDC-P was still closely associated with shorter CFS and OS. Conclusions The presence of IDC-P was closely related to poor survival outcomes for patients with mPCa. IDC-P was an adverse prognosticator in most subgroup patients. The description of IDC-P in the pathological report of prostate biopsy would help clinicians to evaluate the prognosis of mPCa patients more accurately and make better treatment choices.

Objective To observe the effect of mirror therapy (MT) combined with movement imagination therapy (MI) on the upper limb function of hemiplegic stroke patients.Methods Ninety stroke survivors with hemiplegia were randomly divided into three groups:A,B and C.Their routine rehabilitation was supplemented with MI in group A,with MT in group B and in group C with both for 8 weeks.The evaluations used the Fugl-Meyer motor function assessment (FMA),Carroll's upper extremity function evaluation (UEFT) and the modified Barthel index (MBI).Results After 4 and 8 weeks of treatment,significant improvement was observed in the average FMA,UEFT and MBI scores of all three groups compared with before the treatment.After 4 and 8 weeks all of the average scores in group B were significantly higher than those of group A at the same time point,For group C,their average scores were significantly better than those of both of the other groups.Conclusion Mirror therapy is superior to exercise imagination therapy,but their combination is more effective in promoting upper limb function and improving ability in daily activities than either alone.Longer treatment has better effects.

OBJECTIVETo analyze three cases with partial 21q trisomy, and correlate their genotypes with phenotypes.

METHODSG-banding chromosomal analysis and single nucleotide polymorphism (SNP array) were performed for the three cases and their parents.

RESULTSSNP array has detected partial 21q trisomy in three cases and one mother, with variable size and location of the duplications. Case 1 harbored a 12.35 Mb duplication at 21q22.11q22.3, which spanned the Down syndrome critical region. Case 2 harbored a 35.32 Mb duplication at 9p24.3p13.3 and a 14.42 Mb duplication at 21q11.2q21.3, with the former spanning the partial 9p trisomy syndrome critical region excluding the Down syndrome critical region, and was inherited from his mother. Case 3 harbored a 4.17 Mb tetraploidy at 21q11.2q21.1 in the form of mosaicism, which spared the Down syndrome critical region. His mother carried a 4.17 Mb triploidy at 21q11.2q21.1, which was also a mosaicism.

CONCLUSIONPartial 21q trisomy may occur in various forms and its clinical phenotypes are heterogeneous. Combined use of genetic techniques, particularly SNP array, is crucial for diagnosing partial 21q trisomy and delineating its genotype-phenotype correlation.

Child, Preschool ; Chromosome Banding ; Down Syndrome ; genetics ; Female ; Genotype ; Humans ; Infant ; Infant, Newborn ; Male ; Microarray Analysis ; methods ; Polymorphism, Single Nucleotide

AIM:In this study, the rat lung injury model was induced by ammonium chloride for studying the effect of imidapril on blood gas, serum TNF-α, IL-6 and MDA concentrations, and AngⅡand CD54 protein expression in rat lung tissue.METHODS:Male rats were randomly divided into 3 groups:control group, lung injury model group and drug group.The rats in control group were given saline (2 mL/kg), while the rats in lung injury model group were given 6% ammonium chloride (2 mL/kg).In drug group, imidapril (3 mg· kg-1· d-1) was given to the rats once daily for 1 week by intragastric gavage after given 6%ammonium chloride.On the 7th day, the rats were anesthetized with 2% so-dium pentobarbital.Abdominal aorta blood, venous blood and lung tissue were collected.The blood gas indexes and serum TNF-α, IL-6 and MDA concentrations were determined.The lung tissues were fixed and sliced, and the expression of AngⅡ and CD54 proteins was detected by immunohistochemistry.RESULTS: The PaCO2 increased in lung injury model group compared with control group and drug group (P<0.05).The expression of AngⅡand CD54, and the concentrations of TNF-α, IL-6 and MDA also increased significantly ( P<0.01) in model group.Pulmonary edema, inflammation, alveo-lus congestion, hemorrhage and hyperplasia in model group were obvious compared with control group and drug group. CONCLUSION:Imidapril improves blood gas indexes, and reduces lipid peroxidation and inflammatory responses in the rats with lung injury induced by ammonium chloride.

Objective To explore the effects of prenatal exposure to lipopolysaccharide (LPS) on insulin resistance in adult offspring rats. Methods Nulliparous, time-matched Sprague-Dawley rats were randomly divided into two groups (n=10 for each group):control group and LPS group. On the pregnant day 8, 10 and 12, rats in control group and LPS group were administered intraperitoneally with saline 0.5 mL or LPS 0.40 mg/kg, respectively. The blood levels of fasting plasma glucose (FPG), insulin and Leptin were detected at 90 days of age in offspring. The steady state insulin resistance index (HOMA-IR) and insulin sensitivity index (QUICKI) were evaluated in adult offspring rats. Results Compared with the control group, blood levels of FPG (mmol/L:7.72 ± 0.42 vs 7.02 ± 0.42), insulin (mIU/L:8.78 ± 4.10 vs 1.51 ± 0.27) and Leptin (μg/L:3.88 ± 1.40 vs 1.00±0.33) were significantly increased in offsping of LPS group, as well as HOMA-IR (3.01±1.41 vs 0.47±0.09) in-creased, while QUICKI (0.57±0.07 vs 0.99±0.08) decreased in offsping of LPS-treated rats. Conclusion Prenatal exposure to LPS can result in abnormality of insulin resistance in offspring rats.