Genotypes and phenotypes of rare thalassemia in Foshan, Guangdong Province / 中华地方病学杂志

Objective:To analyze the gene mutation types and haematological characteristics of αβ compound thalassemia, non-delectable α-thalassemia and Hemoglobin H Disease (HbH disease) in Foshan.Methods:Using the method of retrospective analysis, we selected the population who had been tested for thalassemia gene in Foshan Second People's Hospital Affiliated to Southern Medical University from January 2011 to November 2019. Sysmex XT-5000 automatic hematology analyzer was used for routine blood analysis. α-, β- thalassemia genes were detected by PCR + diversion hybridization method.Results:A total of 4 563 people were tested, of which 1 829 were diagnosed as thalassaemia through genetic diagnosis. αβ compound thalassaemia was detected in 81 cases with a positive rate of 1.8%; non-delectable α-thalassemia was detected in 18 cases with a positive rate of 0.4%; HbH disease was detected in 23 cases with a positive rate of 0.5%. The most common genotypes of αβ compound thalassemia were -- SEA/αα\β41-42/βN (17.3%, 14/81), -α 3.7/αα\β41-42/βN (14.8%, 12/81), -- SEA/αα\β654/βN (11.1%, 9/81). The main manifestations of hematology were normal to mild anemia (93.8%, 76/81). Only β-thalassemia with double heterozygotes and α-thalassemia showed severe anemia. αα CS/αα\βN/βN genotypes were common in the local non delectable α-thalassemia (50.0%, 9/18), and the non delectable α-thalassemia was characterized by non-positive phenotype or typical small-cell hypochromatosis in hematology. The genotypes of local HbH patients were -α 3.7/-- SEA\βN/βN (65.2%, 15/23), and simple HbH manifested as moderate anemia (87.0%, 20/23). Patients with HbH disease and β-thalassemia had normal or mild anemia (13.0%, 3/23). Conclusions:The genotypes of αβ compound thalassemia in Foshan area are diverse and complex, and hematology mainly manifests as mild anemia or normal. Non-delectable α-thalassaemia is common in the genotype of αα CS/αα\βN/βN, and clinical manifestations are asymptomatic gene carriers. The genotype of local HbH patients is mainly -α 3.7/-- SEA\βN/βN, and the hematology mainly shows moderate anemia.

Network meta-analysis of airway humidification in patients with non-mechanical ventilation after domestic gastrectomy / 中国实用护理杂志

Objective@#To evaluate the therapeutic effects of various airway humidification methods to prevent pulmonary infection in non-mechanical ventilation patients by network meta-analysis.@*Methods@#The Pubmed, Embase, Web of Science, Wanfang data, and CNKI databases were searched and a randomized controlled trial (RCT) was developed for the method of humidification in non-mechanical ventilation patients after domestic air-surgery. The staff independently screened the literature, extracted the data, and used the stata14.0 software for network meta-analysis.@*Results@#In the 3 342 articles, 25 of them were included in the Meta-analysis, involving 6 methods of airway humidification. The order of effectiveness: first place in artificial nose, second in venturi humidification device, third in continuous atomization, Intermittent atomization ranked fourth, continued to drop into the fifth place, intermittently dropped into the sixth position of humidification.@*Conclusion@#The effectiveness of artificial nose device and venturi humidification device has been gradually recognized by domestic counterparts. Meta analysis shows that it is effective in preventing lung infection and worth promoting.

Variation of CYP2D6 genotype between Caucasian and Asian population and inconsistency of serum endox-ifen concentration and phenotype of CYP2D6 in Chinese breast cancer patients / 实用医学杂志

Objective To conduct a prospective phase Ⅱ clinical study to explore the distribution of CYP2D6 gene polymorphism in Chinese population and its relationship with the metabolism of tamoxifen in early-stage hormonal receptor-positive breast cancer. Methods CYP2D6 genotype was tested by Sanger sequencing using the ABI 3500 Genetic Analyzer. Plasma concentrations of tamoxifen and endoxifen were measured using the HPLC-MS/MS(API 2000)assay. We downloaded the data of CYP2D6 allele from the CPIP database. Results In Chi-nese patients,the most common alleles were CYP2D6*1,*2,and *10;the predominant diplotypes were *1/*10 (38.3%)and*10/*10(18.8%). The distribution of metabolic phenotype,plasma concentration of endoxifen,and endoxifen:tamoxifen plasma concentration ratio were inconsistent between the normal metabolic phenotype(EM) and the intermediate phenotype(IM)under different CYP2D6 activity prediction criteria.The differences in the ratios and endoxifen plasma concentrations were statistically significant between the three groups by cluster analysis. Conclusions The CYP2D6 genotype distribution in Chinese population is different from that in the Western popu-lation. There is considerable variation of serum endoxifen concentration in Chinese breast cancer patients possess-ing the phenotype previously known as the intermediate active metabolizers of CYP2D6. Therefore,in the current era of precision medicine,the standard CYP2D6 genotype-phenotype classification system cannot properly stratify the Chinese population with different levels of endoxifen plasma concentration.

Role of ultrasonography in diagnosis of vertebral artery stenosis / 中国基层医药

Objective To discuss the function and advantages of ultrasound technology in various factors in the diagnosis of vertebral artery stenosis lesions.Methods The objective data of ultrasonography were selected in 60 patients (120 vertebral arteries) with paroxysmal,reversible vertigo and headache as the chief complaint,the internal relations were summarized and analyzed.Results In the subjects of study,the vertebral artery stenosis for 38.2％,vertebral artery course tortuosity changer accounted for 33.3％,congenital abnormal development accounted for 9.8％,mixed cause 18.6％,dominant etiology was vertebral artery sclerosis and vertebral artery tortuosity change.Conclusion Ultrasound technology has important value of clinical application in the reasons diagnosis of vertebral artery stenosis disease,it can help extend clinical diagnosis.

Regulating Effect of Acupuncture at Fengchi (GB20) and Extraordinary Points on TNF-?and ET in Hypertension / 上海针灸杂志

ObjectiveToobserve the regulating effect of acupuncture at Fengchi (GB20) and extraordinary points on tumor necrosis factor (TNF)-aand endothelin (ET) in hypertension.MethodTotally 150 patients with hypertension were randomized into two groups at a ratio of 1:1.In the control group, 75 subjects were intervened by acupuncture at bilateral Fengchi; in the treatment group, 75 subjects were intervened by acupuncture at bilateral Fengchi plus extraordinary points. The needles were manipulated once every 10 min duringthe 30-min session. The treatment was given once per day, 2 weeks as a treatment course. ResultDuring the intervention, the TNF-aand ET contents were decreased significantly in the treatment group (P0.05). After 1 treatment course, the TNF-aand ET contents were decreased significantly in the treatment group (P0.05); there was a significant difference in comparing the TNF-aand ET contents between the two groups (P<0.05). There were also significant differences in comparing the TNF-aand ET contents inhypertension of various degrees between the two groups (P<0.01). The results showed that the TNF-aand ET contents in patients intervened by acupuncture at Fengchiand extraordinary points were lower than that in those intervened by acupuncture at Fengchialone, i.e. combination of Fengchi and extraordinary points produces a significant effect on regulating TNF-aand ET contents.Conclusion Acupuncture at Fengchi and extraordinary points can produce a more significant effect than acupuncture at Fengchi alone on regulating TNF-aand ET in patients with hypertension.

Clinical analysis of islet autoantibodies,hypersensitivity-CRP and renal function in elderly type 2 diabetic patients / 重庆医学

Objective To investigate the clinical value in changes of serum glutamic acid decarboxylase antibody (GAD-Ab) ,islet cell antibodies(ICA) ,insulin autoantibodies (IAA) and high-sensitivity C-reactive protein (hs-CRP) and renal function in elderly type 2 diabetic patients .Methods 122 cases of endocrine inpatient in our hospital had been diagnosed with type 2 diabetes were chosen from January 2012 to December 2012 .They were divided into islet autoimmunity antibody positive group (n=21) and islet autoimmunity antibody negative group (n=101) according to the antibody test results ,Fasting C-peptide(FCP) ,2-hour postprandial C-peptide(2 h CP) ,glycosylated hemoglobin(HbA1c) ,high-sensitivity-CRP(hs-CRP) and renal function[urea (UREA) ,creatinine (Cr) ,microalbuminuria(urinary mALB) ,urinary β2-microglobulin (urinary β2-MG)]were detected .Test results were statistically analyzed and compared .Results At least one Islet autoimmune antibodies were found in 21 cases of 122 elderly patients with type 2 diabetes .The positive rate was 17 .21% .GAD-Ab was detected positive in 14 cases(11 .47% ) ,ICA was detected positive in 10 ca-ses(8 .19% ) ,IAA was detected positive in 1 case(0 .82% ) ,Two antibodies were detected positive together in 4 patients(3 .27% ) , Three antibodies were not detected positive together .The levels of hs-CRP ,UREA and Cr in Islet autoantibodies positive group were higher then in islet autoimmunity antibody negative group ,the difference was statistically significant (P0 .05) . Conclusion Chronic inflammation and the appearance of islet autoantibodies are closely related to the damage of islet cell function . It has a higher value in monitoring complications and efficacy through understanding islet autoantibodies ,inflammation and changes in renal function in elderly type 2 diabetes .