Thalassemias are among the commonest monogenic disorders in human,including α-and β-two primary types.The birth of fetuses with severe thalassemia has been an important public health problem.It is proved to be highly effective in reducing dramatically severe thalassemia that by the large-scale population based carrier (heterozygote) screening for thalassemias and by the prenatal diagnosis aimed at the couples at risk for severe thalassemia.These heterozygotes of thalassemias can be detected by hematological phenotypic examination ( RBC indices in conjunction with measurement of Hb A2 level) and by DNA analysis when necessity.Full blood count ( FBC ) and HPLC or suitable alternative technique such as capillary electrophoresis(CE) has become the main technical means of hematological phenotypes and the first line clinical technique screening for thalassemias.Gap-PCR and reverse dot blot (RDB) detecting deletional and non-deletional ( point mutations) thalassemias respectively have been most universal genotyping methods in clinical appliance at home and abroad.Moreover,real-time fluorescent PCR- and gene chip-based etc used for molecular diagnosis of this disease will have tremendous application prospect.

Genotype ; Humans ; beta-Thalassemia

Objective To investigate the insertion/deletion(I/D) polymorphism of ACE gene in uncompen-sated hepatocirrhosis with hepatorenal syndrome(HRS). Methods ACE I/D polymorphism was detected by poly-merase chain reaction amplification of DNA fragment in 96 cases of uncompensated bepatocirrhnsis with HRS, every group as controls were involved in this study. At the same time,GPT,GOT,sarum creatinine(SCr), blood urea nitro-gen(BUN) and glomerular filtration rate(GFR) of every case were measured and the difference of these targets among different genotypes were compared. Results There was no significant difference for every genotype and allele fre-quency between the HRS group and every group as controls(P >0.05). The I allele frequencies were higher than the one of D allele for every groups except other liver disease group(P < 0.01). But in the every group as controls, there was no significant difference for the genotype frequency among three groups and in the HRS group, the Ⅱ genotype frequency was higher than the one of ID and DD(P < 0.05). SCr etc. of the Ⅱ genotype were higher than the one of ID and DD(P<0.05) and GFR of the Ⅱ genotype was lower than the one of ID and DD in the HRS group(P<0.05). Conclusion There was relationship between ACE gene polymorphism and the incidence of uncompensated bepatocirrhosis with HRS.

Objective To investigate epidemiological characteristics of Salmonella infection in children with infectious diarrhea in Zhuhai City from 2009 to 2014 .Methods Isolation ,culturing ,biochemical identification and serotyping of Salmonella were carried out in strains isolated from stool specimens of 4 395 children with infectious diarrhea in inpatient and outpatient settings in Zhuhai Municipal Maternal and Child Healthcare Hospital from 2009 to 2014 ,and data were statistically analysed .Results A total of 546 strains of Salmonella was isolated(the overall isolation rate was 12 .42% ) and 30 serotypes were identified .Among children with Salmonella infection ,those under 3 years old accounted for 93 .22% .There was no statistically significant difference of isolation rate between male and female children with infectious diarrhea(P<0 .05) .June and July were peak period of Salmonella infection ,and the isolation rate was 16 .40% and 16 .09% respectively .Isolates of Salmonella typhimurium ,Salmonella enteritidis and Salmonella stanley account for 50 .92% ,13 .55% and 10 .26% respectively ,which were dominant serotypes .Conclusion Salmonella is the main pathogenic bacteria in children with infectious diarrhea in Zhuhai area ,and Salmonella typhimurium is the main serotype .The infec‐tion of Salmonella might be correlated with children′s age and climate change .

Objective To compare the reliability of erythrocyte parameter mean corpuscular volume(MCV)and mean corpuscu-lar hemoglobin(MCH)for screening thalassaemia trait.Methods A fresh venous blood sample with the cut-off value of MCV was sent to 21 hospitals of Zhuhai city for conduct the full blood cell analysis within 1 d.Then the inter-and intra-coefficient of varia-tion (CV)as well as bias values of MCV and MCH were calculated and compared.In addition,10 EDTA-anticoagulant venous blood samples were divided into two parts,the effects of stored temperature and time on MCV and MCH were observed.Results The coefficient of variation(CV)of MCV (4.1%)was significantly greater than that of MCH (2.8%)among 21 laboratories,the qualification rate of MCH detection results was 100%,which was significantly higher than 66.7% of MCV (P <0.05).When the whole blood samples were stored under 2 kinds of the temperature condition(room temperature and refrigeration)for 72 h,MCH changed little (P >0.05).When these samples were stored under the refrigerated condition for 72 h,MCV had no statistically sig-nificant difference compared with the instant detection results of MCV (P >0.05),when stored at the room temperature for 48 h, MCV was significantly increased (P <0.05),MCV had statistical difference in storage for 48 h between the room temperature and the refrigeration.Conclusion Among laboratories and under different temperature conditions,the reproducibility of MCH is better than that of MCV and is more stable than MCV.MCH as the clinical first-line screening for thalassaemia is more reliable than MCV.

Objective To investigate the effect of different degree lipidemia on time-resolved fluoroimmunoassay(TRFIA)for determination of unconjugated estriol(uE3).Methods Mixed serum was prepared by collecting different levels of lipidemia samples which were normal and chylous appearance from male and by mixing with definite value serum of uE3.The levels of uE3 in the sam-ples were measured by TRFIA and the effect of lipidemia on TRFIA for determination of uE3 was evaluated.Results For the ap-pearance of chylous specimens,mild lipidemia increased uE3,mid-or hiper-lipidemia samples reduced uE3 and the effect of both was considerable.Conclusion The chylous lipidemia has variant degree of influence to TRFIA for determination of uE3,then the results effect accuracy of Down′s screening.

0.05), but significantly lower than 8.3% in Guangzhou area(P

Objective To explore the mode of psychological and behavior intervention which suitable for convalescent cancer patients,and evaluate its clinical effects in order to provide empirical basis for nursing care of cancer patients. Methods havior intervention condition. All the patients were evaluated by General Self-Efficacy Scale (GSES),ProfiIe of Mood States-Short Form(POMS-SF) and Quality of Life Questionnaire-Core 30(QLQ-C30)before and after the intervention. Result Compared with the control group,the scores of self-efficacy and quality of life were significantly improved in the experimental group (P< 0.01),while the total score and factor scores of POMS-SF such as tension-anxiety (TA),anxiety-hostility(AH),fatigne-inertia (FI),and confusion-babelism(CB)were significantly decreased(P<0.05). Conclusion Psychological and behavior intervention is proved to be feasible and effective to improve the mental health status,self-efficacy and quality of life in convalescent cancer patients.

Objective To investigate the correlation between the erythrocyte indices and the genotypes of alpha thalassemia.Methods337 carriers with various genotypes of alpha-thalassaemia ( iron deficiency,alpha-thalassemia double heterozygote and homozygote,α-compounding β-thalassemia and abnormal hemoglobinopathy were excluded) were classified into three groups based on different genotypes of alpha-thalassaemia including silent thalassemia group (ST,83 cases),α-thalassemia trait group (TT,210cases) and intermediate thalassemia group( IT,44 cases),and 154 healthy adults were randomly choosed as normal control The erythrocyte indices involving in RBC,Hb,MCV,MCH,MCHC and RDW-CV were retrospectively analyzed and the difference of which was compared by analysis of variance and SNK test among aboved-mentioned groups.ResultsThere were statistical significance among groups about erythrocyte indices except Hb F.The order of the level of MCV and MCH was NC [( 86.6 ± 5.2) fl,( 29.5 ± 2.1 ) pg] ＞ST[(80.1 ±3.3) fl,(26.7±1.3) pg] ＞TT[(68.5 ±3.4) fl,(22.0 ±1.2) pg] ＞IT[(66.6±7.1)fl,(20.0 ±2.2) pg,F =580.67,761.19,P ＜0.05].And the size of RDW-CV was IT(22.3 ±3.4)％ ＞TT (14.9±1.2) ％ ＞ST(13.8±1.6)％ ＞NC(13.2±1.4)％(F=347.25,P＜0.05).In ST group,the value of MCHC of -α3.7/αα subgroup( 335.6 ± 8.0) g/L was higher than that of -α4.2/αα subgroup( 330 ±7.2) g/L and αTα/αα subgroup (328.4 ±9.5) g/L(F=6.07,P ＜0.05).Meanwhile,in IT group,the value of MCV of αTα/--SEA subgroup( 70.1 ± 7.2 ) fl was higher than that of -α3.7/--SEA subgroup ( 63.4 ±5.9) fl and -α4.2/--SEA subgroup ( 64.1 ± 4.0 ) fl ( F =5.55,P ＜ 0.05 ).However,the value of MCHC of αTα/--SEA subgroup( 289.7 ± 21.2 ) g/L was lower than that of other two subgroups [( 306.3 ± 8.4 ),(306.1 ± 8.7) g/L,F =8.72,P ＜0.05].Except Hb A2 and Hb F,there was positive correlation between the number of deleted α-globin gene and that of RBC and RDW-CV ( r =0.318 and 0.580,P ＜0.01 ).Nevertheless,there was negative correlation between the number of deleted α-globin gene and that of the other erythrocyte indices (r =-0.483,-0.827,-0.744 and -0.684,P all ＜0.01 ).ConclusionsThere is close correlation between the degree of anemia and the number of deleted α-globin gene characterized by Hb reduction and RBC increasing.In addition,the anemia degree of non-deletional Hb H disease is severer than that of deletional Hb H,which of Hb H disease with -α4.2/--SEA is severer than that with -α3.7/--SEA.

ObjectiveTo evaluate the reliability of the probe melting curve analysis (PMCA) based on real-time fluorescent PCR assay for the genetic diagnosis and prenatal diagnosis of β-thalassemia.MethodsA total of 135 cases of peripheral blood samples were collected from Zhuhai Municipal Maternity and Child Healthcare Hospital between 2008 and 2010.All the samples were performed preliminary diagnosis according to the hematological data.Of these,119 cases were diagnosed as β-thalassemia trait,4 cases were diagnosed as severe thalassemia and 12 cases were normal.In addition,44 cases of amniotic fluid and 8 cases of cord blood with high-risk for severe β-thalassemia were also collected.The diagnostic reliability of the PMCA assay and reverse dot blot assay was evaluated on 187 above-mentioned cases by direct DNA sequencing analysis in a double-blind study.ResultsThe genotypes of 185 cases were detected accurately based on the PMCA assay except for two cases:one heterozygote with Ini( ATG ＞ AGG) was omitted and another heterozygote couldn't be distinguished between CD43 ( G ＞ T) and CD37 ( G ＞ A ).For the RDB assay,only one heterozygote with CD71-72 ( + T) was not detected accurately in the above-mentioned cases.Compared with the DNA sequencing analysis,the sensitivity,specificity,negative predictive value,positive predictive value and diagnostic efficiency of the PMCA assay were 98.75％,100.00％,93.10％,100.00％ and 98.93％,respectively.The corresponding value of the RDB assay were 99.38％,100.00％,96.42％,100.00％ and 99.47％,respectively.There were no significant between-group differences in the diagnostic efficiency of the two assays ( P ＞ 0.05 ).The results of prenatal diagnosis were in complete concordance with the follow up results,after the birth or induced labour of the fetuses.ConclusionsThe PMCA assay can be used as an alternative and verified method of RDB assay for the genetic diagnosis and prenatal diagnosis of β-thalassemia.