【Objective】 To statistically analyze the relationship between homologous recombination repair deficiency (HRD) score and clinicopathological characteristics, genomic mutations in patients with high-risk and metastatic hormone-sensitive prostate cancer (mHSPC) and the prognostic predictive value in mHSPC. 【Methods】 A total of 127 patients diagnosed with high-risk prostate cancer and mHSPC, treated at the Department of Urology of Chinese PLA General Hospital during Dec.2021 and Nov.2023 were enrolled.Homologous recombination repair (HRR) gene sequencing was performed, and the genomic scar score (GSS) algorithm were conducted to calculate the HRD score.The relationship between HRD scores and clinicopathological features, genomic alterations, and prognosis were analyzed. 【Results】 The median HRD score was 1.6(0.8, 5.2), 30(23.6%) patients’ HRD scores ≥10, and 11(8.7%) patients’ HRD scores ≥20.Clinicopathological features, including ISUP classification ≥4 (P=0.044) and metastatic status (P=0.008) were associated with high HRD score.Patients with mutations in the BRCA, TP53 and MYC systems had significantly higher HRD score than those with wild-type genes (P<0.05).In mHSPC, the risk of biochemical recurrence was 12.836 times higher in patients with HRD score ≥20 than in those with <20 [OR:12.836 (1.332-124.623), P=0.028]. 【Conclusion】 Baseline HRD score was lower in patients with high-risk prostate cancer and mHSPC.Patients with high HRD score may have higher histological grading (ISUP≥4) and later clinical stage.Further investigation is needed to determine the threshold of HRD scores as biochemical markers suggestive of a poor prognosis.

Objective To explore the value of lipoprotein-associated phospholipase A2(Lp-PLA2)in the diagnostic grading and prog-nostic assessment of pneumonia-associated acute respiratory distress syndrome(p-ARDS).Methods The study was a prospective ob-servational study.Fifty-seven patients with p-ARDS admitted to the ICU ward of Tianjin Hospital from January 2022 to August 2023 were included as the research subjects.Twenty-six pneumonia patients admitted to the general respiratory ward during the same period and 10 healthy individuals undergoing medical examinations were selected as the control group.Their serum samples were collected,and the samples from p-ARDS and pneumonia patients were obtained within 24 hours of admission.The levels of serum Lp-PLA2,in-terleukin 6(IL-6),and IL-8 were detected using the Luminex? multiplex test kit.The baseline data and laboratory test results,inclu-ding routine blood parameters,biochemical markers,C-reactive protein(CRP),procalcitonin(PCT),and D-dimer at admission,were collected from the patients with p-ARDS or pneumonia.The levels of serum Lp-PLA2 were compared by grouping based on clinical diagnosis,severity of ARDS,and clinical outcomes on day 28 after admission.The diagnostic and prognostic value of serum Lp-PLA2 in p-ARDS was evaluated by plotting the receiver operating characteristic(ROC)curve,Spearman correlation analysis,and Logistic regression analysis.Results The levels of serum Lp-PLA2 in the p-ARDS group([233.67±83.49]ng/mL)were significantly higher than that in the pneumonia group([150.86±39.48]ng/mL,P＜0.05),while those in the pneumonia group were significantly higher than that in the healthy control group([150.86±39.48]ng/mL vs[92.07±12.89]ng/mL,P＜0.05).The analysis results of the ROC curve showed that serum Lp-PLA2 had a better ability to distinguish p-ARDS from pneumonia than indicators such as IL-6,IL-8,CRP,and PCT,with an area under the ROC curve(AUCROC)of 0.781(95％CI:0.685-0.878).The diagnostic value of serum Lp-PLA2 combined with D-dimer was higher,with an AUCROC of 0.897(95％CI:0.832-0.963).Subgroup analysis found that as lung inju-ry worsened,the levels of serum Lp-PLA2 increased,and that serum Lp-PLA2 levels were negatively correlated with the PaO2/FiO2 ra-tio in p-ARDS patients(r=-0.549)and positively correlated with the sequential organ failure assessment(SOFA)scores at admission(r=0.412).The levels of serum Lp-PLA2 in the death group of p-ARDS were significantly higher than that in the survival group([314.5±43.1]ng/mL vs[174.9±48.9]ng/mL,P＜0.001).Logistic regression analysis showed that after adjusting for the SOFA score,serum Lp-PLA2 was independently associated with the mortality risk on day 28 after admission(OR=1.099,95％CI:1.026-1.178,P=0.007).Similar results were obtained after adjusting for IL-8 or the PaO2/FiO2 ratio.Conclusion Serum Lp-PLA2 may be used as a biomarker to aid in the diagnostic grading and prognostic assessment of p-ARDS.

Objective:To explore the correlation between the expression of signaling lymphocyte activation molecule family 6 (SLAMF6) on peripheral blood CD8 +T cells and perforin and granzyme B and the clinical significance in patients with newly diagnosed severe aplastic anemia(SAA). Methods:The indicators of blood routine and bone marrow and peripheral blood samples of 32 newly diagnosed SAA patients admitted to Henan Provincial People′s Hospital from January 2016 to June 2019 were collected for retrospective analysis. Flow cytometry was used to detect the expression of SLAMF6, perforin and granzyme B on samples CD8 +T cell before therapy and 6 months after therapy (11 cases received transplantation, 21 cases received immunosuppressive therapy [IST]). Spearman correlation analysis was performed to determine the association between clinical indicators and laboratory test results. The expression of SLAMF6, perforin and granzyme B was also detected in 10 healthy people (normal group) and 13 myelodysplastic syndromes/paroxysmal nocturnal hemoglobinuria (MDS/PNH) patients (MDS/PNH group). Results:(1) At diagnosis: the expression of SLAMF6 was significantly lower in the SAA group than that in the normal group and the MDS/PNH group ([56.40±6.37]% vs [84.34±5.81]% and [82.24±4.98]% (both P<0.001]). The expression of perforin was significantly higher in the SAA group (32.73±8.46) than that in the normal control group (23.75%±5.10%), and the MDS/PNH group (26.12%±5.53%) (both P<0.05). The expression of granzyme B was also significantly higher in the SAA group (36.23%±7.94%) than that in the normal control group (21.67%±5.05%) and the MDS/PNH group (21.79%±5.10%) (both P<0.001). The expression of SLAMF6 was positively correlated with the hemoglobin ( r=0.804), and reticulocyte absolute values ( r=0.656) in peripheral blood, percentage of granulocytes ( r=0.643) and erythrocytes ( r=0.622) in bone marrow of SAA patients (all P<0.05). Expression of SLAMF6 was negatively correlated with perforin ( r=-0.792) and granzyme B ( r=-0.908) on CD8 +T cells in patients with SAA (both P<0.001). (2) After treatment: the expression of SLAMF6 in peripheral blood CD8 +T cells of 30 surviving patients was higher than pre-treatment ([79.19±12.69]% vs [56.40±6.37]%, P<0.001). The expressions of perforin and granzyme B were lower than pre-treatment level (both P<0.05). The expression of SLAMF6 on CD8 +T cells in 11 transplanted patients was higher than before transplantation ([86.54±3.75]% vs [56.40±7.35]%, P<0.001). The expressions of perforin and granzyme B were lower than before transplantation (both P<0.05). The expression of SLAMF6 on CD8 +T cells in 12 IST-respond patients was higher than that before treatment, while the perforin and granzyme B levels were lower than pre-treatment (all P<0.05). The post-treatment expressions of SLAMF6, perforin and granzyme B were similar as before treatment levels in 7 IST-unrespond patients (all P>0.05). Conclusion:SLAMF6 is significantly down-regulated on CD8 +T cells in newly diagnosed SAA, negatively correlated with the effective factors of CD8 +T cells, which might participate in the immune regulatory of CD8 +T cells as a negative regulatory factor in patients with SAA. The SLAMF6 is significantly up-regulated after hematopoietic recovery, while there is no significant change in treatment-unrespond patients, which could thus serve as an useful diagnostic and therapeutic index of patients with SAA.

Objective:To investigate the effects of additional chromosomal abnormalities (ACA) in Philadelphia chromosome-positive (Ph +) cells on biological characteristics, therapy efficacy, and prognosis of patients with primary chronic myeloid leukemia (CML) -chronic phase (CP) and those who developed CML-accelerated phase/blast phase (AP/BP) during therapy. Methods:The clinical data of 410 patients with Ph + CML, including 348 patients with primary CML-CP and 62 patients who progressed to CML-AP/BP during treatment, who were admitted to Henan People's Hospital from January 2013 to June 2020 were retrospectively analyzed to categorize into high-risk, non-high-risk, and non-ACA groups according to the ELN2020 criteria. The effects of high- and non-high-risk ACA on biological characteristics, therapy efficacy, and prognosis were compared. Results:①Among the 348 patients with primary CML-CP, 20 patients (5.75% ) had ACA, including 3 and 17 patients with high-risk and non-high-risk ACA, respectively, whereas the remaining 328 patients did not have ACA. There were no significant differences in baseline clinical characteristics between those with and without ACA ( P>0.05 for all) . The rates of complete hematological response, complete cytogenetic response, major molecular remission, and 5-year overall survival (OS) were not significantly different between the non-high-risk ACA and non-ACA groups ( P>0.05 for all) ; however, the 5-year progression-free survival of the non-high-risk ACA group (42.0% ) was significantly lower than that of the non-ACA group (74.5% ) ( χ2=4.766, P=0.029) .②Of the 62 patients who progressed to CML-AP/BP during treatment, 41 patients (66.13% ) had ACA, including 28 and 13 patients with high-risk and non-high-risk ACA, respectively, whereas the remaining 21 patients did not have ACA. Platelet counts of the high-risk ACA group (42.5×10 9/L) were lower than those of the non-high-risk (141×10 9/L) and non-ACA groups (109×10 9/L) ( χ2=4.968, P=0.083) . There was no significant difference in the incidence of point mutations in ABL kinase among the three groups ( P=0.652) . The complete cytogenetic response of the high-risk ACA group (5.3% ) was significantly lower than that of the non-ACA group (46.7% ) ( χ2=5.851, P=0.016) . The 5-year OS of the high-risk ACA group was lower than that of the non-ACA group (46.2% vs 77.8% , χ2=3.878, P=0.049) . Subgroup analysis revealed that the 5-year OS rate of the high-risk group Ⅱ, which included -7/7q-, i (17q) , and complex karyotype comprising ≥2 high-risk ACA, was significantly lower than that of the non-ACA group (28.6% vs 77.8% , χ2=8.035, P=0.005) whereas the 5-year OS rate was not significantly different between high-risk group Ⅰ, which included +8,+Ph, and complex ACA with +8/+Ph, and the non-ACA group (54.5% vs 77.8% , χ2 =1.514, P=0.219) . Conclusion:Due to different disease stages and ACA/Ph + types, treatment response and prognosis vary among patients with CML harboring ACA/Ph +. The emergence of high-risk ACA during therapy suggests worse therapy efficacy and prognosis. Strict and standardized cytogenetic monitoring is critical for early detection, precise diagnosis, and treatment of these patients.

Objective: To reveal the related factors of inhibitors and differences ofhemorrhage and joint disease before and after the production of inhibitors in children with hemophilia A (HA) . Methods: Retrospective analyses of the clinical data of 381 children with HA under the age of 16 registered in the Registration Management Center of Hemophilia in Henan Provincial from January 2015 to August 2018. Results: A total of the 381 children were enrolled with 116 (30.4%) mild, 196 (51.4%) moderate, and 69 (18.1%) severe cases; 54 patients (14.2%) had inhibitors, including 22 high and 32 low titer inhibitors. Positive family history was positively associated with inhibitors[P<0.001, OR=3.299 (95%CI 1.743-5.983) ], and high-intensity exposure was associated with inhibitors[P=0.002, OR=2.587 (95%CI 1.414-4.731) ]. High-intensity exposure was associated with high titer inhibitor production[P=0.001, OR=8.689 (95%CI 2.464-30.638) ], and high-intensity exposure increased the risk of high titer inhibitors in HA patients. After inhibitors occurred in 54 patients with HA, the rates of overall joint annual bleeding (z=-3.440, P=0.001) and traumatic annual bleeding (z=-2.232, P=0.026) increased, but the rates of the annual joint bleeding (z=-1.342, P=0.180) and spontaneous annual bleeding (z=-1.414, P=0.157) remained to be not statistically significant. The joint ultrasound score did not change significantly after the inhibitor information (z=-0.632, P=0.527) . Conclusions Positive family history and high-intensity exposure could increase the risk of F Ⅷ inhibitors in HA patients, and high-intensity exposure increased the risk of high titer inhibitors. The rates of the overall joint annual bleeding and traumatic annual bleeding increased after the inhibitor information.

Objective:This study aims to investigate the characteristics of gene mutation and clinical prognosis in de novo acute myeloid leukemia (AML) patients with myelofibrosis (MF) .Methods:From January 1, 2016, to February 1, 2020, 103 newly diagnosed AML patients in Henan Provincial People’s Hospital who simultaneously underwent bone marrow biopsy examination were included. They were divided into the AML-MF group (MF grades 1-3) and the AML without MF group (MF grade 0) , and the clinical features, gene alterations, chemotherapy efficacy, and prognosis were compared between the two groups retrospectively.Results:①MF was confirmed in 44.7% of AML patients (46/103) , of which 84.8% (39/46) were MF-1 and 15.2% (7/46) were MF-2/3, while MF was not confirmed in 55.3% (57/103) of AML patients. The median of WBC in the AML-MF group was significantly higher than in the AML without MF group [11.205 (0.69-191.82) ×10 9/L vs 4.64 (0.18-95.10) ×10 9/L, P=0.024]. More patients in the AML-MF group had nucleated erythrocytes in the peripheral blood (43.5% vs 24.6% , χ2=4.119, P=0.042) . All four AML-M 0 patients were in the AML-MF group, while AML without MF group had a higher proportion of AML-M 2 ( P=0.014) . ②FLT3-ITD and NPM1 mutations were more frequent in the AML-MF group ( P=0.021 and 0.039) , while CEBPA mutation was more frequent in the AML without MF group ( P=0.029) . ③The CR rate in the AML-MF group was significantly lower than in the AML without MF group (69.7% vs 93.2% ) ( χ2 =7.412, P=0.006) . Multivariate analysis showed that MF, especially the grade of fibrosis, was an independent risk factor for CR in de novo AML. ④The 3-year OS of patients in the AML-MF group was significantly lower than in the AML without MF group (20.5% vs 72.2% , χ2=4.032, P=0.045) . Subgroup analysis showed that OS and PFS of AML-MF1 and AML-MF 2/3 groups were also significantly worse than those of the AML without MF group ( P=0.001) and MF, especially MF ≥2, was an independent marker for inferior OS and PFS in de novo AML ( P=0.021 and 0.044) . Conclusion:AML-MF has unique laboratory and clinical characteristics. MF is an independent risk factor for CR, OS, and PFS in AML. Evaluation of MF is very significant for therapy efficacy and prognosis judgment in de novo AML.

Objective To investigate the safety and feasibility of robotic nephrectomy,work bench surgery with robotic kidney autotransplantation in the treatment of complex renal tumors.Methods The clinical data of 5 patients with renal tumors admitted from January 2018 to July 2018 were analyzed retrospectively.There were 4 males and 1 females.The median age was 49 years old,ranging 32-66 years.The median body mass index was 25.6 kg/m2,ranging 21.1-27.8 kg/m2.Serum creatinine level was 87.2 μmol/L,ranging 78.0-88.9μmol/L before bench surgery.5 patients had multiple bilateral renal tumors and had undergone laparoscopic or robotic partial nephrectomy on the contralateral kidney.For bench surgery kidney,4 cases were on the left side and 1 case was on the right side.Each kidney has more than 2 separate tumors,combined with complete endophytic tumors,tumors larger than 7 cm in diameter or hilar tumors.5 patients were all performed robotic nephrectomy,work bench partial nephrectomy with robotic kidney autotransplantation under general anesthesia.The patient was first in a lateral decubitus position for robotic nephrectomy,and the kidney was removed through a median 6 cm periumbilical incision.After kidney removal,kidney tumors were resected and kidney was reconstructed on a hypothermic working table.Then the kidney was packed in a plastic bag,filling with ice slush.The corresponding parts of the plastic bag were cut to expose the renal artery and vein.Finally,the patient was moved to lithotomy position with Trendelenburg tilt of 20°,and the autologous kidney wrapped in the plastic bag was placed through the previous periumbilical incision into the abdominal cavity for robotic kidney autotransplantation.The renal artery and vein were anastomosed end-to-side with the right external iliac artery and vein.The ureter and bladder were anastomosed.Autologous kidneys were placed in abdominal cavity in 4 cases,and placed in right iliac fossa with retroperitonealization in 1 case.Ice slush on the surface of the autologous kidney did not completely melt before the blood supply was restored during the operation,and the autologous kidney immediately urinated after the blood supply was restored.Results All surgeries were performed successfully without conversion to open surgeries.The total operation time was 460 min,ranging (415-645 min),the time of robotic nephrectomy was 120 min,ranging (74-300 min),the time of robotic kidney autotransphntation was 135 min,ranging(103-163 min),the warm ischemia time was 3 min,ranging (1.5-6.0 min),the cold ischemia time was 182 min,ranging(135-210 min),the rewarming time was 50 min,ranging(45-55 min),the estimated blood loss during operation was 100 ml,ranging(50-300 ml),and the hospital stay was 6 d,ranging(5-9 d).The number of resected tumors was 4,ranging(2-6).The pathology reveals clear cell carcinoma in 3 cases and chromophobe cell carcinoma in 2 cases.The surgical margins were all negative.The serum creatinine levels were 111.1 μmol/L (87-217.6 μ mol/L) and 106.1 μmol/L (87.1-172 μmol/L) on the 7th and 30th day after operation,respectively.One month after operation,CT showed that the function and morphology of the autologous kidneys were fine.No recurrence or metastasis was found in 5 patients during a median follow-up of 7 months,ranging (5.4-11.7 mon).Conclusions For patients with complex renal tumors who cannot undergo in situ partial nephrectomy,robotic nephrectomy,work bench surgery with robotic kidney autotransplantation can completely remove the tumors,maximize the preservation of renal function and minimize the trauma of patients,making the ultimate means of nephron-sparing surgery for patients with complex renal tumors more minimally invasive and safe.

Objective: To analyze the percentage of myeloperoxidase (MPO)-positive acute myeloid leukemia (AML) blast cells, and to explore the correlation of MPO expression with the clinical features, gene alterations, therapeutic response and prognosis of AML. Methods: The expressions of MPO in BM blasts cells of 233 newly diagnosed AML were retrospectived analyzed, they were divided into two groups using the percentage of MPO-positive blast [low (≤70%) and high (>70%)], clinical features, gene alterations, chemotherapy efficacy and prognosis were compared between the two groups. Results: ①Of the 233 patients, 121(51.9%) were in the low MPO group, and the rest 112(48.1%) in the high MPO group. Favorable-risk group according NCCN guidelines of AML was always MPO-high (χ²=32.773, P<0.001), while MPO-low was closely related to poor-risk (χ²=7.078, P=0.008); ②DNMT3A mutation (χ²=6.905, P=0.009), spliceosome genes mutation (SF3B1/SRSF2/U2AF1) (χ²=5.246, P=0.022), RUNX1 mutation (χ²=4.577, P=0.032), ASXL1 mutation (χ²=7.951, P=0.005) and TP53 mutation (P=0.004) were more likely to be seen in the low MPO group, while C-KIT mutation (χ²=8.936, P=0.003) and CEBPA mutation (χ²=12.340, P<0.001) were more frequent in the high MPO group, especially CEBPA double mutation; ③The rates of first complete remission in the low MPO group were significantly lower than that in the high MPO group (38.8% vs 68.1%, χ²=15.197, P<0.001). Multivariate analysis showed that low MPO positivity significantly affected the CR₁ unfavourably. ④The overall survival (OS) and the progression-free survival (PFS) were significantly worse in the low MPO group (18.0% vs 89.4% for OS, and 11.5% vs 56.7% for PFS, P<0.001). Multivariate analysis disclosed that the low number of MPO was significantly unfavourable prognostic factor. ⑤The low MPO group still showed a worse survival even when restricted to the patients with normal karyotype, the OS and the PFS were 31.1% and 18.8% respectively. Conclusions AML with different MPO expression percentage had a unique gene mutation spectrum. Low expression of MPO was an independent risk factor for CR₁, OS and PFS in AML patients, which may be a simple and highly significant factor for AML patients when evaluating the therapeutic efficacy and prognosis.

Objective To evaluate the outcomes of children with Phenylketonuria(PKU)detected by newborn screening program.Methods One hundred and two children with PKU were detected and diagnosed in Shanxi Newborn Screening Center from June 2004 to September 2014.All children with PKU were followed up until December 2015.During the follow-up,the Phenylalanine(Phe)levels,physical and intellectual development, nutrition status of those children were monitored.Results Among 102 PKU children,there were 96(94.12%)with normal physical development,and 93(91.18%)with normal DQ/IQ.The average DQ or IQ score in children who started the therapy before 1 month was higher than that in those who started after 1 month old(93.07 ±9.50 vs.87.39 ±10.99,t=3.09, P=0.00).Among these children 82.47%(80/97)had zinc deficiency and 31.46%(28/89)had dyslipidemia; and the normal Phe concentration rate was(59.73 ±19.03)%.The intellectual development level was negatively correlated with the age of starting therapy(r=-0.25, P=0.01), positively correlated with the education levels of his/her father(r=0.21,P=0.03)and mother(r=0.23, P=0.02).And the intellectual development was better in urban areas than that in rural areas.Conclusions With the standardized treatment, the physical and intellectual development of children with PKU can basically reach normal levels,and the earlier treatment can make better therapeutic effect.

Objective To evaluate the clinical improvements after autologous bone marrow mononuclear cells (BMMNCs) percutaneously injected into coronary artery in patients with heart failure due to non-ischemic cardiomyopathy using PET myocardial peffusion/metabolic imaging.Methods From February 2011 to October 2012,40 patients with heart failure due to non-ischemic cardiomyopathy were selected.The test group including 15 patients (13 males,2 females,average age (57.5±14.5) years) received the autologous BMMNCs intracoronary injection on the basis of drug treatment.The other 25 cases (21 males,4 females,average age (58.0±12.0) years) were taken as the control group and only received the drug treatment.All patients were followed up for 24 months,and the myocardial perfusion/metabolism imaging,echocardiography,brain natriuretic peptide (BNP) test,6-minute walking experiment were performed.The data were analyzed by two-sample t test.Results During the follow-up period,the test group had no ventricular arrhythmia and other serious complications,and the patients' symptoms had been improved.There was no change in myocardial perfusion after treatment of autologous BMMNCs,but the myocardial metabolic defect by volume reduced from (43.79± 17.99) cm3 to (28.19±9.27) cm3 (t =3.33,P＜0.01) 24 months after the treatment.The myocardial metabolic defect by volume at the baseline and after 24 months in the control group was (43.30±15.70) cm3,(48.51±15.77) cm3 respectively (t=1.01,P＞0.05).In the test group,the left ventricular end-diastolic diameter decreased from (64.0±8.0) mm to (59.0±7.0) mm 24 months after the treatment (t=2.04,P＜0.05),and the left ventricular ejection fraction was significantly higher than that before treatment:(45.0±4.0) ％ vs (27.0±6.0) ％ (t =10.81,P＜0.01).Conclusion PET myocardial perfusion/metabolic imaging can be used as tools in evaluating the therapeutic effect of autologous BMMNCs in patients with heart failure due to non-ischemic cardiomyopathy.