Characteristics of Silent Alpha Thalassemia Gene in Child-Bearing Adults in Guangdong / 中国实验血液学杂志

OBJECTIVE@#To investigate characteristics of silent alpha thalassemia genes in child-bearing adults in Guangdong, in order to provide data for the prevention and control of hemoglobin H disease.@*METHODS@#A total of 8 752 cases were collected from January 2016 to December 2020. Gap-PCR was used to detect the deletional of α-thalassemia mutations (-α3.7, -α4.2), while PCR reverse dot blot hybridization assay (RDB) was used to detect the non-deletional α-thalassemia mutations (Hb CS, Hb QS and Hb Westmead).@*RESULTS@#Among 8 752 subjects, 717 cases of silent α-thalassemia were detected, the detection rate was 8.19%, including 555 cases of deletional α-thalassemia (77.41%) and 162 cases of non-deletional α-thalassemia 22.59%. The mean corpuscular volume (MCV) of deletional silent α-thalassemia was (82.09±4.10) fl, and mean corpuscular hemoglobin (MCH) was (27.03±1.37) pg, which both were over the diagnostic cut-off value for thalassemia. The MCV of non-deletional silent α-thalassemia was (81.07±4.93) fl, and MCH was (26.77±2.20) pg. According to the diagnostic criteria, if using MCV<82 fl or (and) MCH<27 pg as a positive criteria for screening thalassemia in the childbearing age, the screening sensitivity was 53.14% and different in different genotype, among which ααQS/αα was 100%, -α3.7/αα, -α4.2/αα, ααCS/αα and ααWS/αα was 62.15%, 63.41%, 44.83% and 39.62%, respectively. Namely, nearly half the carriers of such mutations might have escaped detection as a result of their screening strategy.@*CONCLUSION@#When a couple is preparing for pregnancy, if one of them has been determined to be mild α-thalassemia or hemoglobin H disease, other half is necessary to carry out silent α thalassemia detection to prevent the birth of children with hemoglobin H disease even if MCV>82 fl and MCH>27 pg.

Evaluation of p16/Ki-67 double-stained immunohistochemistry in diagnosis of human papilloma virus-positive oropharyngeal squamous cell carcinoma / 中华口腔医学杂志

Objective: To explore the diagnostic value of p16/Ki-67 double-stained immunohistochemistry in the diagnosis of human papilloma virus (HPV)-positive oropharyngeal squamous cell carcinoma(opscc) and find out the optimal index to improve the accuracy of HPV detection. Methods: A total of 153 cases, from May 2014 to May 2020, diagnosed OPSCC in Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, were selected. This cohort included 130 males and 23 females, aged (58.6±10.0) years old. HPV RNA in situ hybridization was chosen as the gold standard to detect their HPV status. p16 immunohistochemistry and p16/Ki-67 double-stained immunohistochemistry were performed on all cases, and the p16/Ki-67 double positive index including 20%, 40%, and 60% were used as the thresholds to compare their sensitivity, specificity, and positive prediction value (PPV), negative prediction value (NPV) and prognosis prediction ability. Results: Among the 153 patients with OPSCC, 114 were HPV-negative and 39 were HPV-positive, and the HPV infection rate of OPSCC patients was 25.5% (39/153). Only 58.1% (36/62) of single p16 positive cases were HPV-positive, and the prognosis of patients could not be distinguished using p16 immunohistochemistry only. Using p16/Ki-67 double staining, the accuracy of HPV positive diagnosis has been improved. The HPV diagnostic ability was the highest when the p16/Ki-67 double positive index was 40% (sensitivity=86.8%, specificity=94.8%, PPV=84.6%, NPV=95.6%, area under the curve=0.897), which could distinguish the prognosis of patients (P=0.012). Conclusions: The p16/Ki-67 double-stained immunohistochemistry can improve the accuracy of HPV positive diagnosis rate and diagnosis of HPV-positive oropharyngeal cancer is the most accurate when the double-positive index is 40% as the threshold to judge HPV status and could serve as better surrogate marker for HPV detection.

Dexmedetomidine protects acute myocardial ischemic injury in rats by inhibiting TXNIP / 中国药理学通报

Aim To investigate the protective effect of dexmedetomidine(DEX)on acute myocardial ischemia in rats and its mechanism.Methods Sixty SD rats were randomly divided into five groups: control group(C), model group(M), and dexmedetomidine 10, 25, 50 μg·kg

Clinical characteristics of human cytomegalovirus and polyomavirus infection after allogeneic hematopoietic stem cell transplantation / 中国感染控制杂志

Objective To explore clinical characteristics of human cytomegalovirus (HCMV) and polyomavirus (BKV and JCV) infection after allogeneic hematopoietic stem cell transplantation (allo-HSCT).Methods Clinical data of 53 patients with hematologic malignancies who underwent allo-HSCT from June 2016 to December 2017 were collected.HCMV, BKV and JCV loads in patients' peripheral blood and urine were monitored once a week from day 1 to day 100 after transplantation.Incidence, occurrence time, clinical manifestations, and risk factors of viral infection were analyzed.Results A total of 51 patients had viral infection, infection rate was 96.23％.HCMV, BKV, and JCV infection rates were 54.72％ (29/53), 77.36％ (41/53), and 28.30％ (15/53) respectively.Incidences of pulmonary infection, acute graft-versus-host disease (aGVHD), and hemorrhagic cystitis (HC) were 54.72％, 58.49％, and 20.75％respectively.Analysis on risk factors showed that aGVHD (OR, 24.61[95％ CI, 2.30-46.24]), pretreatment with total body irradiation (TBI) (OR, 33.39[95％ CI, 1.57-79.13]), and use of antithymocyte globulin (ATG) (OR, 24.77[95％ CI, 1.16-52.58]) were independent risk factors affecting HCMV.Human leukocyte antigen (HLA) coincidence (OR, 0.003[95％ CI, 0.00-0.10]) could reduce the risk of HCMV viruria;pretreatment with TBI (OR, 15.10[95％ CI, 1.14-39.27]) was an independent risk factor for BKV viruria, compatible blood group of donor and recipient (OR, 0.07[95％ CI, 0.01-0.64]) could reduce the risk of BKV viruria.Conclusion HCMV and polyomavirus infection in blood and urine of recipient should be monitored as soon as possible after transplantation, so as to prevent and reduce complications in time.

Identification of a new 3.8kb deletional α thalassemia and detection of the deletion fragment / 南方医科大学学报

<p><b>OBJECTIVE</b>To report the identification of a novel 3.8-kb deletion that caused α thalassemia and establish the method for detecting the deletion fragment.</p><p><b>METHODS</b>Peripheral blood samples were collected from the proband and his mother for analysis of the hematological parameters and routine test for thalassemia genes. For the sample with an inconsistency between the genotyping results and phenotypic analysis results, a specific gap-PCR was employed to identify the rare or novel mutations.</p><p><b>RESULTS</b>A novel 3814-bp deletion causing α thalassemia was found in the proband and his mother, who had genotypes of -α4.2/-α3.8 and αα/-α3.8, respectively.</p><p><b>CONCLUSION</b>We identified a 3.8-kb deletion in the α-globin gene cluster that caused α thalassemia, and this finding enriches the α thalassemia gene mutation spectrum. Specific gap-PCR offers a convenient and efficient means for for detecting this deletion fragment.</p>

Risk factors analysis of venous thromboembolism in post-operative patients with gynecological malignant tumor and application of related risk assessment table / 第二军医大学学报

Objective To investigate the risk factors of venous thromboembolism (VTE) ln post-operative patients with gynecological malignant tumors, and to evaluate the value of Risk Assessment Table of VTE in Hospitalized Patients in above patients. Methods A total of 530 post-operative patients with gynecological malignant tumors in our hospital between Oct 2010 and Nov. 2015 were enrolled, including 58 cases complicated with VTE and 472 cases without VTE. Clinical lndexesof all patients including age, body mass lndex (BMI), tumor type, tumor stage, operationmethod, operation time, amount of bleeding, history of blood transfusion, bedridden time, andhistory of comorbidities were statistically analyzed. The clinical dynamic evaluation of 317 post-operative patients with gynecological malignant tumor diagnosed between Nov. 2015 and Apr. 2017 were conducted by the new version of Risk Assessment Table of VTE inHospitalized Patients, which was jointly developed by our hospital. Targeted interventions were used based on the evaluation results, and the incidence of VTE was observed and compared with patients who did not use the assessment table. Results Univariate analysis results showed that BMI, tumor stage, operation time, amount of bleeding, blood transfusion and bedridden time were significantly related toVTE (P<0. 05). Multivariate analysis results showed that age, BMI, tumor stage, operation time and operation method were independent risk factors of VTE in post-operative patients with gynecological malignant tumor (P〈0. 05). After application of the Risk Assessment Table of VTE in Hospitalized Patients and taking corresponding interventions, the incidence of VTE in patients was significantly lower than that before application (1. 89% [6/317] vs 10. 9% [58/530], P〈0. 05). Conclusion Age, BMI, tumor stage, operation time and operation method are the independent risk factors of VTE in post-operative patients with gynecological malignant tumor. Assessing the risk of VTE in the peri-operative period and taking appropriate preventive measures according to the risk score can reduce the incidence of VTE in post-operative patients with gynecological malignancies.

Determination and evaluation of arsenic speciation in urine of rat exposed to dimethyl arsenic / 中国地方病学杂志

Objective To observe the distribution and metabolism of arsenic speciation in urine of rats exposed to different concentrations of dimethylaraenic acid (DMA) through drinking water.Methods Thrity six weaning Wistar rats were randomly divided into normal control,low-dose group and high-dose group,12 rats in each group(6 female and 6 male); average body weight of female rats was (60 ± 5)g,and male rats was (50 ± 5)g.All rats of the 3 groups were given DMA at concentrations of 0,100,200 mg/L,respectively,corresponding to their specific groups through drinking water for 10 weeks.Inorganic arsenic(iAs),monomethylarsenic acid(MMA),DMA and trimethylarsenic compound (TMA) in urine were measured by hydride generation trapping and ultrahypothermia coupled with atomic absorption spectrometry.Results After feeding for 10 weeks,the differences of rat urinary concentrations of iAs,MMA,DMA and TMA between normal control,low-dose group and high-dose group were statistically significant(x2 =25.441,25.942,25.751,17.767,all P＜ 0.01).Urinary concentrations of iAs,MMA and DMA(2.541,4.383,24.447 mg/L) of low-dose group were significant higher than those of normal control (0.784,0.000,0.743 mg/L,all P ＜ 0.05) ; iAs,MMA,DMA and TMA(3.978,7.186,35.112,4.518 mg/L) of high-dose group were significantly higher than those of normal control(0.784,0.000,0.743,0.000 mg/L,all P ＜ 0.05).The concentrations increased along with increasing doses of DMA concentrations in drinking water(all P ＜ 0.05).Conclusions After rats are exposed to DMA,most of the DMA are excreted in unchanged form in urine and a small portion of DMA is metabolized into TMA.

Oxidative damage induced by sodium arsenite in SV-40-immortalized normal uroepithelial cells / 中国地方病学杂志

ObjectiveTo study the state of oxidative injury induced by sodium arsenite(NaAsO2) in SV-40-immortalized normal uroepithelial (SV-HUC-1 ) cells.Methods SV-HUC-1 cells were exposed to different concentrations of NaAsO2[0(control),1,2,4,8,10 μmol/L] for 24 h,intracellular reactive oxygen species (ROS) was determined by flow cytometry,and the content ofintracellular nitrotyrosine(NT) and the 8-Hydroxydeoxyguanosine (8-OHdG) levels of cell culture medium were detected by enzyme linked immunosorbent assay (ELISA).Results After 24 h treatment,ROS levels(81.76 ± 4.91,95.23 ± 2.17,126.61 ± 17.95,126.74 ± 27.77,114.18 ± 9.65) of SV-HUC-1 cells in the 1,2,4,8,10 μmol/L NaAsO2 exposure groups were significantly higher than those of the control group (69.84 ± 1.28,P ＜ 0.05 or ＜ 0.01 ),ROS levels and exposure dose were positively correlated significantly(r =0.818,P＜ 0.01); the content of NT in the 10 μmol/L NaAsO2 exposure group[(919.66 ± 206.33) μg/L] was significantly higher than that in the control group[ (238.19 ± 38.28)μg/L,P ＜ 0.01 ],NT content and dye concentrations of arsenic also had dose-response relationship (r =0.617,P ＜ 0.01); after 24 h the cells were treated with arsenic,no significant difference of 8-OHdG content in the culture medium was observed(F =2.127,P ＞ 0.05 ).ConclusionNaAsO2 can cause SV-HUC-1 cell oxidative damage.