Analysis of Gene Mutation Types of Thalassemia in Fuzhou Area of China / 中国实验血液学杂志

OBJECTIVE@#To investigate the gene mutation types and spectrum of α, β-thalassemia in Fuzhou area of China.@*METHODS@#Thalassemia gene screening was performed in the women receiving physical, prenatal, and pre-pregnancy examination, and the patients with suspected thalassemia in our hospital from July 2013 to March 2018.Genotypes of thalassem were detected by Gap-PCR and RDB-PCR.@*RESULTS@#1042 were positive among 2074 suspected cases with a positive rate of 50.24%; 618 cases were confirmed to be α-thalassemia and with a positive rate of 29.8%; 409 cases were confirmed to be β-thalassemia with a positive rate of 19.72%. 15 cases were confirmed to be α-β complex thalassemia with a positive rate of 0.72%. the --/αα(76.54%) was the most common genotype among α-thalassemia, -α/αα(10.03%) and -α/αα(2.91%) in hot pursuit. In addition, IVS-II-55 (T->G) and IVS-II-119 (-G, +CTCGGCCC) were newly found alpha mutations; the IVS-2-654 (C→T) (40.83%) was the most common genotype among β-thalassemia, CD41-42 (-TCTT) (35.94%) and CD17 (A→T) (9.78%) in hot pursuit.@*CONCLUSION@#The genotype of thalassemia in Fuzhou area is highly heterogenic, --/αα is the most common genotype among α-thalassemia, IVS-2-654 (C→T) is the most common genotype among β-thalassemia, Meanwhile, two α-mutation sites are found in this study which were not reported in the Database of Human Hemoglobin Variants and Thalassemias.

Severe Strongyloides stercoralis infection: a case report / 中国血吸虫病防治杂志

This paper reports a severe case of Strongyloides stercoralis infection during routine sputum smear examinations, due to cough and shortness of breath, so as to improve clinicians’ awareness of strongyloidiasis to avoid and reduce misdiagnosis and missed diagnosis.

External Quality Analysis of Quality Indicators on Specimen Acceptability / 现代检验医学杂志

Objective To analyze the status of quality indicators(QI) on specimen acceptability and establish preliminary qual ity specification.Methods Web based External Quality Assessment system was used to collect data of laboratories partici pated in "Medical quality control indicators in clinical laboratory" from 2015 to 2017,including once in 2015 and 2017 and twice in 2016.Rate and sigma scales were used to evaluate incorrect sample type,incorrect sample container,incorrect fill level and anticoagulant sample clotted.The 25th percentile (P25) and 75th percentile (P75) of the distribution of each QI were employed to establish the high,medium and low specification.Results 5 346,7 593,5 950 and 6 874 laboratories sub mitted the survey results respectively.The P50 of biochemistry (except incorrect fill level),immunology and microbiology reach to 6σ.The P50 of clinical laboratory is 4 to 6σ except for incorrect sample container.There is no significant change of the continuous survey results.Based on results in 2017 to establish the quality specification,the P25 and P75 of the four QIs is 0 and 0.084 4 ％,0 and 0.047 6 ％,0 and 0.114 2 ％,0 and 0.078 4 ％,respectively.Conclusion According to the results of the survey,most laboratories had a faire performance in biochemistry,immunology and microbiology,and clinical laboratory needs to be strengthened.Laboratories should strengthen the laboratory information system construction to ensure the actual and reliable data collection,and make a long time monitoring to achieve a better quality.

Cardiovascular disease risk and vascular damage status in pre- and hypertension population in coastal areas of Fujian province / 中华心血管病杂志

<p><b>OBJECTIVE</b>To observe the cardiovascular risk factors and vascular damage status of pre- and hypertensive population in the coastal areas of Fujian province.</p><p><b>METHODS</b>This cross-sectional study surved 3344 Fujian coastal people aged older than 30 years. Glycolipids, uric acid, urine, microalbumin, brachial-ankle pulse wave velocity(baPWV) and central retinal arteriolar equivalent(CRAE) measurements were performed. Variance analysis and binary logistic regression were applied to evaluate cardiovascular risk factors and vascular damage of prehypertensive as well as hypertensive population.</p><p><b>RESULTS</b>(1) The morbidity of prehypertension as well as hypertension was 30.0% in coastal population of Fujian Province, there were more than 3 cardiovascular risk factors in 65.5% (909/1388) of the hypertensive population and 37.5% of the prehypertensive population.(2) The abnormal rates of creatinine ratio(UACR), baPWV, and CRAE in hypertensive [25.7% (357/1388) , 84.2% (1169/1388) , 29.5% (409/1388) ] and prehypertensive population [20.0% (176/880) , 29.1% (256/880) , 25.6% (225/880)] were significantly higher than those of normotensive individuals [8.5% (91/1076), 8.9% (96/1076), 18.8% (202/1076), all P < 0.05].(3) Prehypertension and hypertension served as independent risk factors of UACR, baPWV and CRAE according to logistic regression analysis. The odds ratios (OR) value and 95% confidence intervals were 1.496 (1.095-2.044) , 2.477 (1.815-3.381) , 0.700 (0.549-0.891) in prehypertensive population, and 1.976 (1.454-2.686) , 7.707 (12.938-24.235) , 0.591 (0.474-0.736) in hypertensive population.</p><p><b>CONCLUSION</b>Multiple cardiovascular risk factors coexist in prehypertensive and hypertensive population in the coastal area of coastal areas of Fujian province and there is more morbidity of vascular damage in prehypertensive and hypertensive individuals compared to normotensive subjects in these areas.</p>

Case-control study on bone setting manipulation for the treatment of over degree II supination-eversion fractures of ankle joint / 中国骨伤

<p><b>OBJECTIVE</b>To explore therapeutic effects of bone setting manipulation for the treatment of over degree II supination-eversion fractures of ankle,and analyze manipulative reduction mechanism.</p><p><b>METHODS</b>From 2005 to 2008, 95 patients with over degree II supination-eversion fractures of ankle were treated respectively by manipulation and operation. There were 43 cases [11 males and 32 females with an average age of (44.95 +/- 12.65) years] in manipulation group, and 2 cases were degree II, 11 cases were degree III, and 30 cases were degree IV. There were 52 cases [21 males and 31 females with an average age of (39.96 +/- 13.28) years] in operative group,and 6 cases were degree II, 18 cases were degree III, and 28 cases were degree IV. Bone setting manipulation and hard splint external fixation were applied to manipulative group. Operative reduction internal fixation was performed in operative group. X-ray was used to evaluate reduction of fracture before and after treatment, 2 months after treatment. Ankle joint function was evaluated according to Olerud-Molander scoring system after 6 months treatment.</p><p><b>RESULTS</b>All patients were followed up with good reduction. Three cases occurred wound complication in operative group, but not in manipulative group. In manipulation group, 19 cases got excellent results, 20 cases good and 4 cases fair; while in operative group, 30 cases got excellent results, 20 cases good and 2 cases poor. There were no significant differences in fracture reduction and ankle joint function recovery between two groups (P > 0.05). Efficacy of operative treatment was better than that of manipulative treatment at degree IV fracture (P < 0.05).</p><p><b>CONCLUSION</b>Bone setting manipulation is a good method for treating supination-eversion ankle joint fractures, which has advantages of simple and safe operation, reliable efficacy. For ankle join fracture at degree IV, manipulative reduction should be adopted earlier, and operative treatment also necessary</p>

Two gene mutations in fibrillin 1 of Marfan syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect novel mutations in the fibrillin 1 (FBN1) and transforming growth factor beta receptor type II (TGFBR2) genes by screening the genes from 14 patients with Marfan syndrome.</p><p><b>METHODS</b>Denaturing high performance liquid chromatography (DHPLC) was introduced to screen for FBN1 and TGFBR2 mutations exon-by-exon. The DNA amplification fragments which DHPLC elution profiles showed different from the corresponding normal elution profile were sequenced to identify the positions and types of mutations. Restriction fragment length polymorphism (RFLP) was employed to further prove the mutations when needed.</p><p><b>RESULTS</b>Two gene mutations of the FBN1 were found in the patients with Marfan syndrome. They were a novel substitutional mutation (Intron29 +4A > T) of FBN1 and a recurrent nonsense mutation (8080C >T) of FBN1.</p><p><b>CONCLUSION</b>Intron29 +4A > T and 8080C > T of FBN1 are possibly the pathogenesis of the MFS patients.</p>