OBJECTIVETo analyze the genotype-phenotype correlation among carriers from Guangdong with co-inherited hemoglobin Hb Westmead (HbWS) and β-thalassemia.

METHODSTwenty three patients (including 9 males and 14 females, aged 1-53 year old) were diagnosed by hematological analysis and genetic testing. Complete blood cell count and hemoglobin electrophoresis analysis were performed on a XE4000i automatic hemocyte analyzer. Hb, HbF and HbA2 were tested by high performance liquid chromatography (HPLC). Gap-PCR was adopted to detect three common thalassemia deletions. Reverse dot-blotting (RDB) assay was applied for detecting three common non-deletional α2 gene mutations and β-thalassemia.

RESULTSAmong the 23 patients, 12 showed anemia, among whom 9 had mild anemia and 3 had moderate anemia. The lowest Hb was 68 g/L, and both mean corpuscular volume and mean corpuscular hemoglobin were lower than average, while HbA2 was higher than 3.5%. Genetic analysis confirmed that 5 cases had αWS-α/α-α, β CD654/β N (21.7%), 4 had α WS-α/α-α, β CD41-42/β N (17.4%), 5 had α WS-α/α-α, β CD17/β N (21.7%), 4 had α WS-α/α-α, β CD28/β N (17.4%), 1 had α WS-α/α-α, β CD71-72/β N (4.3%), 1 had αWS-α/α-α, β CD27-28/β N (4.3%), 1 had α WS-α/α-α, β CD41-42/β CD17 (4.3%), 2 had a concomitant β-thalassemia heterozygosity and -α 3.7 deletion.

CONCLUSIONPatients with co-existing Hb WS and other β-thalassemia trait may show variable clinical features. Such compound heterozygotes are usually misdiagnosed during screening by hemoglobin electrophoresis, accurate diagnose should be attained by molecular diagnosis.

Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; Child ; Child, Preschool ; China ; DNA Mutational Analysis ; Erythrocyte Indices ; Female ; Genetic Association Studies ; methods ; Genotype ; Hemoglobins ; genetics ; metabolism ; Hemoglobins, Abnormal ; genetics ; Humans ; Infant ; Male ; Middle Aged ; Phenotype ; Polymerase Chain Reaction ; methods ; Young Adult ; beta-Thalassemia ; blood ; ethnology ; genetics

Objective:To evaluate serum complement C1q tumor necrosis factor related proteins-3 (CTRP-3) and D-dimer (D-D) in predicting hyperacute transformation after thrombolysis in patients with cerebral infarction, and their correlation with brain injury.Methods:One hundred and sixty patients with cerebral infarction admitted in our hospital from August 2016 to August 2019 were enrolled in the study. The hyperacute transformation occurred in 29 cases after intravenous thrombolysis (occurrence group) and did not occur in 131 cases (non-occurrence group). The serum CTRP-3, D-D levels and other factors that may cause hyperacute transformation were compared between the occurrence group and the non-occurrence group. Logistic regression analysis was used to analyze the risk factors of cerebral hemorrhage. The predictive values of serum CTRP-3 and D-D for hyperacute transformation in patients with cerebral infarction were analyzed with receiver operating characteristic (ROC)curve. The correlation between serum CTRP-3, D-D and brain injury was analyzed by Pearson correlation coefficient method.Results:The National Institute of Health stroke scale (NIHSS) score [(18.6±2.2) points vs. (14.0±2.1) points, t=10.62, P<0.01], proportion of infarct diameter >5 cm [69.0%(20/29) vs. 39.7%(52/131), χ 2=8.22, P<0.01], trial fibrillation rate[72.4%(21/29) vs. 44.3%(59/131), χ 2=7.52, P<0.01], and serum D-D levels [(3.02±0.31) mg/L vs. (2.24±0.23) mg/L, t=15.44, P<0.01] of the occurrence group were significantly higher than those of the non-occurrence group; while the serum CTRP-3 levels were lower than those of the non-occurrence group [(251.3±26.9) μg/L vs. (285.7±29.2) μg/L, t=5.82, P<0.01], the onset-to-needle time (OTN) was longer than that of the non-onset group [(4.61±0.43) h vs. (2.96±0.52) h, t=15.91, P<0.01]. Logistic regression analysis showed that pre-thrombosis NIHSS ( OR=1.69, 95 %CI: 1.02-2.15, P<0.01), proportion of infarct diamete r>5 cm ( OR=3.73, 95 %CI: 1.96-5.10, P=0.001), atrial fibrillation ( OR=2.14, 95 %CI: 1.25-2.96, P<0.01), OTN ( OR=3.44, 95 %CI: 1.85-5.02, P<0.01), serum DD ( OR=2.37, 95 %CI: 1.56-3.30, P<0.01) and serum CTRP-3 ( OR=2.9 d, 95 %CI: 1.91-4.25, P<0.01) were risk factors for hyperacute transformation in patients with cerebral infarction. ROC results showed that the area under the curve (AUC) of CTRP-3 and D-D for predicting hyperacute transformation in patients with cerebral infarction were 0.723 and 0.796, respectively; and the AUC of the combination of two indicators was 0.823. The anterior cerebral infarction occurred in 28 cases, the posterior cerebral infarction occured in 132 cases. The NIHSS score were(18.7±2.1)points and (14.0±1.9)points,respectively,and the modified Rankin Scale(mRS) score were(3.8±0.5)points and(3.2±0.6) points. Pearson correlation analysis showed that the serum CTRP-3 was negatively correlated with the NIHSS score of brain damage in patients with anterior circulation cerebral infarction ( r=-0.72, P<0.01), and the correlation was less strong with the NIHSS score in patients with posterior circulation cerebral infarction ( r=-0.35, P<0.01). The serum D-D was strongly positively correlated with NIHSS score of brain damage in patients with anterior circulation cerebral infarction ( r=0.88, P<0.01), and it was less strong with NIHSS score in patients with posterior circulation cerebral infarction ( r=0.24, P<0.01). The serum CTRP-3 was strongly positively correlated with brain injury mRS score ( r=0.80, P<0.01), and serum D-D was strongly negatively correlated with brain injury mRS score ( r=-0.76, P<0.01). Conclusion:The combined detection of serum CTRP-3 and D-D has a high predictive value for the occurrence of cerebral hemorrhage in hyperacute transformation after thrombolysis in patients with cerebral infarction, and two indicators have a certain correlation with brain injury of patients.

CT is an important imaging tool for the diagnosis of novel coronavirus pneumonia (COVID-19), therefore, it′s necessary to strictly control the disinfection of CT workplace and equipment and biosafety to avoid the place from becoming a potential infection source and to reduce the risk of infection of patients and radiological staff. It is also necessary to reduce the CT scan dose to minimize the radiation hazards on patients under the premise of ensuring the CT image quality and diagnostic efficiency. Based on the survey that novel coronavirus residues after disinfection at some CT workplace in domestic and overseas and the application of low-dose CT scan in diagnosis of COVID-19, as well as the current situation of radiological protection management in emergency hospital, this paper summarizes and proposes suggestions on infection control and radiological protection for CT workplace to strengthen the defense line of COVID-19 prevention and control.

Objective: To study the effect of noise on hypertension and hyperglycemia among occupational workers. Methods: Total 670 workers in an automobile manufacturing company were selected as the subjects of physical examination in 2017. According to the noise exposure or not, the subjects were divided into control group (no noise exposure) 143 and contact group (noise exposure) 527. Questionnaire survey and physical examination were conducted. The measurement data were analyzed by t-test, and the count data and grade data were analyzed by χ² test. The influence of noise on blood glucose, heart rate, blood pressure and other indicators was analyzed by logistic regression, and the OR and 95%CI of each risk factor were calculated. Results: The average age of the control group and the contact group was no significant difference (P>0.05) . There were 139 (20.7%) cases of high systolic pressure, 154 (23.0%) cases of high diastolic pressure, 63 (9.4%) cases of hyperglycemia, 29 (4.3%) cases of tachycardia. Compared with the control group, there were significant differences in systolic blood pressure, diastolic blood pressure and blood glucose in the contact group (P<0.05) . Compared with the control group, the systolic blood pressure, diastolic blood pressure and blood glucose of the subjects in the corresponding age contact group increased significantly (P<0.05) . The years of noise exposure were protective factors for systolic and diastolic blood pressure (OR=0.970, 0.973) . Conclusion Noise exposure may increase blood pressure and blood sugar of occupational workers, but the effect on heart rate can not be determined.

OBJECTIVE: To investigate the feasibility of using 8-hydroxy-2'deoxyguanosine(8-OHdG) in blood and urine samples as biomarkers for the evaluation of human DNA oxidative damage caused by diesel exhaust(DE). METHODS: A convenient sampling method was used to select 56 male workers exposed to DE in a car manufacturing factory as exposure group, and 52 male workers without exposure to DE were selected as the control group.Urine samples and blood samples were collected from workers in the 2 groups 8 hours after work, and the levels of 8-OHdG in urine and plasma were measured by ultra-high performance liquid chromatography tandem mass spectrometer. RESULTS: The median level of urinary 8-OHdG in the exposure group was higher than that of control group(2.54 vs 2.03 μg/g Cr, P<0.05). The median levels of plasma 8-OHdG in the exposure group and control group showed no statistical significance(32.20 vs 31.40 ng/L, P>0.05). CONCLUSION: The urinary 8-OHdG can be used as a biomarker for evaluating the oxidative damage induced by DE exposure.

OBJECTIVETo evaluate and compare the value of Modified NIH criteria and AFIP criteria for the risk classification of gastrointestinal stromal tumors (GIST).

METHODSClinicopathological and follow-up data of 539 patients diagnosed as primary GIST with or without irregular tyrosine kinase inhibitors in the Nanfang Hospital(n=143), Sun Yat-sen University Cancer Center (n=138), Guangdong Provincial People's Hospital (n=102) and Wuhan Union Hospital (n=156) from January 2012 to December 2015 were retrospectively analyzed. Recurrence risks of these 539 patients were classified by the modified NIH criteria and AFIP criteria. Overall survival and tumor-free survival of patients with different risks were compared by Log-rank test and the accuracy of the two criteria in predicting postoperative recurrence was compared by receiver operating characteristic(ROC) curves.

RESULTSOf 539 GIST patients, 283 were male and 256 were female; the age was (56.5±12.5) years old; tumors of 390 cases (72.4%) located in the stomach; tumor diameter of 178 cases (33.0%) was more than 5 cm; nuclear division number of 164 cases(30.4%) was more than 5/50 high magnification. The mean follow-up time was (37.5±13.6) months. According to the modified NIH criteria, the mean overall survival time of patients with very low, low, intermediate, and high risk was 52.0, 57.0, 56.9 and 53.6 months respectively (P=0.002), and the mean tumor-free survival time was 56.0, 58.1, 58.2 and 51.2 months respectively (P=0.000). According to the AFIP criteria, the mean overall survival time of patients with very low, low, intermediate, and high risk was 54.1, 57.8, 55.5 and 52.0 months respectively(P=0.015), and the mean tumor-free survival time was 57.3, 56.6, 54.9 and 50.4 months respectively(P=0.000). While predicting the risk of postoperative recurrence, the ROC curve of AFIP criteria has a larger area under the curve compared to the curve of the modified NIH criteria(0.689 vs 0.641, P<0.05).

CONCLUSIONCompared with the modified NIH criteria, AFIP criteria predicts the risk postoperative recurrence more accurately in GIST patients.

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.