AIM: To evaluate the pathogenic variants of the SCO2(OMIM 604272)gene in patients with high myopia from Enshi Tujia and Miao Autonomous Prefecture of China.METHODS: A total of 384 patients with high myopia whose spherical refractive error was ≤ -6.00 D and whose axial length was ≥26.00 mm in at least one eye were recruited. DNA was extracted by the phenol-chloroform method from 5 mL of peripheral venous blood. Sanger sequencing was performed to identify pathogenic variants in exon 2 of SCO2. The detected variants were evaluated via in silico prediction software. A total of 288 people from the same district were included as the normal control cohort.RESULTS: Seven variants were detected, namely, four synonymous variants(c.201C>T/p.=, c.576C>T/p.=, c.633A>C/p.=, c.780T>C/p.=.), two missense variants(c.187A>G/p.Ile63Val, c.59G>C/p.Arg20Pro)and one nonsense variant(c.544C>T/p.Gln182*). The two missense variants were not damaging, as predicted by PolyPhen2, SIFT and Provean. The novel nonsense variant(c.544C>T/p.Gln182*)cannot be found in the 1000 Genomes Project and was not identified in 288 normal controls. Variant Taster suggested that the nonsense variant site was conserved.CONCLUSION: The newly identified nonsense mutation may be responsible for high myopia of the patients in our cohort. SCO2 is associated with high myopia, while the incidence of SCO2 variants in high myopia in this cohort was as low as 1/384; the nonsense mutation may be a scarce variant of high myopia in the Enshi Tujia and Miao Autonomous Prefecture of China.

Variant acute promyelocytic leukemia (APL) and APL-like leukemia are rare types of APL, with t (16;17) chromosome abnormality being even rarer. An APL-like patient with t (16;17) chromosome abnormality, which was characterized by bone, lymph node, and central nervous system involvement, was admitted to our hospital. He achieved complete remission after several cycles of chemotherapy and subsequently underwent hematopoietic stem cell transplantation. Furthermore, the diagnosis and treatment of this patient were reported and a literature review was conducted.

Objective:To examine the burden and trends of acute viral hepatitis in Guangdong Province from 1990 to 2019, and provide reference evidences for hepatitis prevention and control in the province.Methods:Data on acute viral hepatitis (hepatitis A, B, C, and E) in Guangdong from 1990 to 2019 were extracted from the Global Burden of Disease Study 2019 database. The incidence, prevalence, mortality, and disability-adjusted life years (DALY) data were analyzed by age and gender, and the estimated annual percentage change (EAPC) was calculated to describe the changing trends in disease burden.Results:From 1999 to 2019, the standardized incidence, prevalence, mortality, and DALY of acute viral hepatitis in Guangdong were higher than the national averages. In 2019, 51.43% (2 245 087/4 365 221) of acute viral hepatitis cases in Guangdong Province were mainly attributed to hepatitis B, and 77.18% (106/138) of deaths were due to acute hepatitis B. In different age groups, except for acute hepatitis B, which was more common in adults, the incidence rates of other types of viral hepatitis such as hepatitis A, B, and E showed an overall decreasing trend with age. The mortality rates of different types of acute viral hepatitis, except for the <5 age group, increased with age. The overall incidence and mortality rates of acute viral hepatitis were higher in men than in women.Conclusions:The overall burden of acute viral hepatitis in Guangdong declined in 2019, but remained higher than the national level. Further efforts are needed to strengthen hepatitis prevention and screening in different population in Guangdong Province, especially in children and the elderly.

Thirty refractory relapsed acute myeloid leukemia (R/R AML) patients who received salvage allo-HSCT with MeCBA conditioning regimen from January 2018 to June 2022 at Henan Cancer Hospital were included, and their clinical data were reviewed. There were 16 males and 14 females among the 30 patients with a median age of 37 (16-53) years. There were 3 sibling allograft donor transplants, 1 unrelated donor transplant, and 26 haplotype transplants. The median course of pre-transplant chemotherapy was 4 (3-22). The time of neutrophil engraftment was 14 (9-22) days and 18 (10-40) days for platelet. The 30-day cumulative incidence of neutrophil engraftment was 100% and the 100-day cumulative incidence of platelet engraftment was 96.7% (95% CI 85.4% -97.5% ). 22 (73.3% ) patients experienced grade 1-2 gastrointestinal reactions, and there was no grade 3-4 organ toxicity. With a median follow-up of 37.1 months, the overall survival (OS) rate, event-free survival (EFS) rate, cumulative recurrence rate (CIR), and non-recurrence mortality (NRM) rate at 3 years after transplantation were 70.0% (95% CI 50.3% -83.1% ), 65.3% (95% CI 44.8% -79.8% ), 21.2% (95% CI 9.2% -44.4% ) and 16.7% (95% CI 7.3% -35.5% ), respectively.

Background Prolonged awkward postures during occupational activities can lead to excessive musculoskeletal load on the wrist of workers and symptoms such as wrist pain or discomfort. Objective To survey the prevalence of wrist pain among workers in 10 key industries and analyze its correlation with wrist working postures. Methods By using stratified cluster sampling method, workers from 10 key industries, such as footwear manufacturing industry, shipbuilding manufacturing industry, and automobile manufacturing industry, were selected from seven regions in North China, East China, Central China, South China, Southwest China, Northwest China, and Northeast China. The demographic information, wrist working postures, pain in wrist of the workers were collected through a cross-sectional survey. Pearson χ² test was used to compare prevalence by selected factors, trend χ² test for between group comparison, and unconditional logistic regression models for the association of wrist working postures with wrist pain. Results There were 64052 workers enrolled in this survey, and 56286 provided valid questionnaires (the effective rate was 87.8%). According to the survey, the prevalence of wrist pain was 23.3% (13112/56286), and the industries with higher prevalences were footwear manufacturing (27.1%, 1927/7106), automobile manufacturing (24.9%, 5378/21560), and shipbuilding and related equipment manufacturing (24.4%, 850/3488) industries. Finger pinching (OR=2.09, 95%CI: 1.95-2.24), frequent wrist bending (OR=2.03, 95%CI: 1.92-2.15), fixed wrist bending (OR=1.77, 95%CI: 1.69-1.85), wrist on hard edge (OR=1.34, 95%CI: 1.28-1.40), and arms over shoulders (OR=1.11, 95%CI: 1.05-1.17) increased the risk of reporting wrist pain. Conclusion Awkward postures are related to wrist pain among workers in selected 10 key industries. The related factors are wrist on hard edge, frequent wrist bending, finger pinching, fixed wrist bending, and arms over shoulders.

Objective:To investigate the long-term efficacy of autologous hematopoietic stem cell transplantation (auto-HSCT) as the first-line consolidation therapy for high-risk diffuse large B-cell lymphoma (DLBCL) in the rituximab era.Methods:From January 2010 to June 2017, 113 DLBCL patients admitted to Henan Cancer Hospital who had complete remission (CR) after rituximab combined with chemotherapy were enrolled. Among 113 patients, 40 cases received auto-HSCT as the first-line consolidation treatment after chemotherapy (transplantation group) and 73 cases received chemotherapy only (non-transplantation group). The clinical data of 113 patients were retrospectively analyzed. The overall survival (OS) and progression-free survival (PFS) were analyzed by Kaplan-Meier method, and OS and PFS were compared between both groups.Results:The 2-, 3- and 5-year OS rates of transplantation group and non-transplantation group were 90.0% vs. 91.8%, 84.9% vs. 80.1%, 80.9% vs. 72.8%, respectively, and the difference in OS was statistically significant of both groups ( P = 0.457); the 2-, 3- and 5-year PFS rates were 85.0% vs. 85.0%, 82.2% vs. 61.8%, 82.2% vs. 60.0%, respectively, and the difference in PFS was statistically significant of both groups ( P = 0.046). None of the patients in the transplantation group experienced early transplantation-related death. Conclusions:In the era of rituximab treatment, the first-line auto-HSCT consolidation therapy could improve the PFS of high-risk DLBCL patients who are sensitive to chemotherapy, and it may improve the OS with a good safety.

Objective:To investigate the risk factors for textbook outcomes (TO) of intra-hepatic cholangiocarcinoma (ICC) after hepatectomy.Methods:The retrospective cohort study was conducted. The clinicopathological data of 155 ICC patients who underwent hepatectomy in the First Affiliated Hospital of Sun Yat-sen University from September 2014 to August 2019 were collected. There were 90 males and 65 females, aged 60(range, 26?82)years. Observation indicators: (1) treatment situations; (2) TO situations; (3) analysis of risk factors for postoperative TO. Follow-up was conducted using outpatient examination and telephone interview to detect postoperative sur-vival of patients up to October 2020. Measurement data with normal distribution were represented as Mean± SD, and comparison between groups was analyzed using the independent samples t test. Measurement data with skewed distribution were represented as M(range), and comparison between groups was analyzed using the Mann-Whitney U test. Count data were described as absolute numbers, and comparison between groups was analyzed using the chi-square test, Yates' calibration chi-square test or Fisher exact probability. The Kaplan-Meier method was used to calculate survival rates and draw survival curves. The Log-rank test was used for survival analysis. The univariate analysis was conducted using the corresponding statistical methods based on data type. The Logistic regression model was used for multivariate analysis. The receiver operating characteristic (ROC) curve was used for evaluating the diagnostic value of indicators (the optimal cut-off value). Results:(1) Treatment situations. Of the 155 patients, 46 cases underwent minor hepatectomy and 109 cases underwent major hepatectomy. Twenty-one of the 155 patients underwent combined bile duct reconstruction. Ninety-five of the 155 patients underwent lymph node dissection, including 41 cases with positive lymph node by postoperative histopathological examinations. The operation time and volume of intraoperative blood loss of the 155 patients were 250.0(range, 95.0?720.0)minutes and 300.0(range, 50.0?15 000.0)mL, respectively. The optimal cut-off values of the operation time and volume of intraoperative blood loss for TO calculated by ROC curve were 247.5 minutes and 325.0 mL, respectively. Of the 155 patients, 44 cases received intraoperative blood transfusion and 10 cases received postoperative blood transfusion (5 cases with intraoperative and postoperative blood transfusion). Seventy-four of the 155 patients had postoperative complications, including 39 cases with mild complications and 35 cases with serious complications. The total duration of hospital stay of the 155 patients was 19 (range, 8?77)days. (2) TO situations. Of the 155 patients, 150 cases achieved R 0 resection, 120 cases had no major postoperative complications, 106 cases had no perioperative blood transfusion, 79 cases had no prolonged duration of hospital stay, 152 cases had no death within postoperative 30 days and 150 cases had no readmission within 30 days after discharge. Of the 155 patients, 56 cases achieved postoperative TO, while 99 patients did not achieve TO. (3) Analysis of risk factors for postoperative TO. Results of univariate analysis showed that preoperative biliary drainage, preoperative Child-Pugh grading of liver function, preoperative asymp-tomatic leukocytosis, preoperative total bilirubin, preoperative alkaline phosphatase, preoperative CA19-9, preoperative CA125, operation time, volume of intraoperative blood loss, tumor diameter, pathological T staging and pathological N staging were related factors for preoperative TO of ICC patients undergoing hepatectomy ( χ2=4.31, 4.31, 4.38, 4.80, Z=?4.15, χ2=10.74, 15.44, 16.59, 27.53, 6.53, 6.77, 9.26, P<0.05). Bile duct reconstruction was also a related factor for postoperative TO of ICC patients ( P<0.05). Results of multivariate analysis showed that preoperative biliary drainage, preoperative asymptomatic leukocytosis, preoperative CA19-9 >35 U/mL, preoperative CA125 >35 U/mL and volume of intraoperative blood loss >325.0 mL were independent risk factors for postoperative TO of ICC patients undergoing hepatectomy ( odds ratio=74.77, 11.73, 2.40,4.86, 6.42, 95% confidence intervals as 1.80?113.39, 1.19?115.54, 1.04?5.53, 1.78?13.26, 2.41?17.11, P<0.05). Conclusions:Preoperative biliary drainage, preoperative asymptomatic leukocytosis, preoperative CA19-9 >35 U/mL, preoperative CA125 >35 U/mL and volume of intraoperative blood loss >325.0 mL are independent risk factors for postoperative TO of ICC patients undergoing hepatectomy.

Objective:Comparison of conventional chemotherapy and immunotargeted therapy efficacy in patients with relapsed/refractory (R/R) acute B cell leukemia (B-ALL) .Methods:The clinical data of 212 patients with R/R B-ALL in the Affiliaed Cancer Hospital of Zhengzhou University from January 2008 to July 2020 were analyzed retrospectively to compare the response rate and survival time difference between conventional chemotherapy and immunotargeted therapies (antiCD19 CAR-T and CD3CD19 bi-specific antibody blinatumomab) , and to explore the related factors affecting prognosis.Results:The CR rate of patients with R/R B-ALL treated with anti-CD19 CAR-T cells was 80.4% , patients treated with blinatumomab was 62.5% , and patients treated with chemotherapy was 38.6% . There was significant difference in the CR rate among the three therapies ( P<0.001) . CAR-T cells 1-year OS rate was 41.5% , which was significantly higher than that of the chemotherapy group (10.3% ) ( P<0.001) . The 1-year PFS rate of CAR-T cells (30.1% ) was also significantly higher than that of the chemotherapy group (9.7% ) ( P<0.001) . The median OS of patients with bridging allo-HSCT after CR treatment by CAR-T cells was 18.5 months, which was higher than that of patients without allo-HSCT (8 months) ( P=0.027) . The median PFS of patients with allo-HSCT was 17 months, which was higher than that of patients without allo-HSCT (4 months) ( P=0.001) . The 1-year OS rate of patients treated with blinatumomab was 14.3% , which was higher than that of the chemotherapy group (10.3% ) ( P=0.018) . The 1-year PFS rate (14.6% ) was also higher than that of the chemotherapy group (9.7% ) ( P=0.046) . The median OS and median PFS of patients with bridging allo-HSCT were 13 and 11 months, respectively, which was higher than that of patients without allo-HSCT (9.5 and 6 months) . The cytokine release syndrome (CRS) incidence in patients with R/R B-ALL treated with anti-CAR-T cells was 89.8% . Grades 3-4, grade 2, and grade 1 CRS were experienced by 30.2% , 11.3% and 58.5% patients, respectively. Only three patients (37.5% ) with blinatumomab developed CRS, all of which were grade 1. Conclusion:The response rate and survival rate of patients with R/R B-ALL treated with CD19 CAR-T cells and blinatumomab were significantly better than those treated with conventional chemotherapy.

To retrospectively analyze the safety and efficacy of low dose subcutaneous decitabine combined with arsenic trioxide in patients with intermediate or high-risk myelodysplastic syndrome (MDS). Three of the total 11 MDS patients achieved complete remission (CR) and 6 achieved hematological improvement (HI), 1 stable disease (SD), and 1 progressive disease (PD). One patient was treated with allogeneic hematopoietic stem cell transplantation (allo-HSCT). The median follow-up time was 413(90-1 275) d. Nine patients were still alive. Low dose subcutaneous decitabine combined with arsenic trioxide can be an alternative regimen for intermediate or high-risk MDS patients.

Objective To observe the clinical efficacy and adverse events of decitabine combined with full_dose and long_term pre_excitation regimen as a induction therapy for relapsed/refractory acute myeloid leukemia (AML). Methods A total of 32 patients with relapsed/refractory AML in Henan Provincial Cancer Hospital from May 2013 to February 2018 were enrolled. All the patients were treated with decitabine combined with full_dose and long_term pre_excitation regimen, including 15 patients who received decitabine combined with CAG regiemtn, and 17 patients who received decitabine combined with CHAG regimen: 25 mg decitabine, intravenous drip, from day 1 to day 3; cytarabine (10-15 mg/m2) administered subcutaneously every 12 h one time, from day 4 to day 17 or more; homoharringtonine (1 mg/m2) intravenous drip, administered intravenously from day 4 to day 10 or more; aclacinomycin (8-10 mg/m2), intravenous drip, administered intravenously from day 4 to day 11 or more; granulocyte colony_stimulating factor (G_CSF) (100-200 μg/m2), subcutaneous injection, and it began 1 day before chemotherapy, adjusted according to the blood cell count; the therapeutic effect and adverse reactions of the patients were observed. Results There were 29 patients (90.6% ) with complete remission (CR), 3 patients (9.4% ) with partial remission (PR), and the overall response (CR+PR) rate was 100.0% (32/32). In decitabine combined with CAG regimen group, 13 patients achieved CR; in decitabine combined with CHAG regimen group, 16 patients achieved CR, and there was no statistically significant difference in the efficacy between the two groups (P＝0.589). The main adverse reactions were agranulocytosis, thrombocytopenia, secondary infection and fever, and no serious adverse events occurred. Conclusion Decitabine combined with full_dose and long_term pre_excitation regimen has a favorable efficacy and safety, which provides a new therapy for relapsed/refractory AML.