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 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 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 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 know the point prevalence rate of social anxiety disorder(SAD) in Daqing University,and explore the influence factors about growth environment.Methods Data came from a large representative sample of 1878 university students,who were selected by stratified random cluster sampling methods according to the constituent ratio of students.They finished general situation questionnaire,interaction anxiety scale (IAS),adolescent self-rating life events check list(ASLEC),Egma Minnen av Bardndosnauppforstran(EMBU) respectively.According to the score of IAS,they were divided into 3 groups of high,mid and low.And then all of the high group,the 50％ and 10％ randomly of the mid and the low group respectively accepted the face-to-face interviews with 6 trained psychiatrists referred to SCID-I/P.Results Among 1878 Daqing university students,191 of them were diagnosed as SAD,with a point prevalence rate of 8.89％.The rate of rural students was higher than that in urban students(12.3％ vs.8.5％,x2 =7.966,P=0.017),and the rate of non-only child was higher than only child (12.0％ vs.9.1％,x2 =4.055,P=0.044).There were significant differences between SAD and No-SAD on many factors of ASLEC and EMBU.Logistic regression analysis showed that study stress in ASLEC(B=0.206),father's warm (B =-0.070),father's overprotection (B =0.286),mother's punishment (B =0.159),only child or not (B =-0.685) entered into regression equation.Conclusion The point prevalence rate of SAD in Daqing university students is 8.89％ and influenced by several growth environmental factors.Only child or not,father's warm,father's overprotection,mother's punishment,study stress in ASLEC can forecast SAD occurrence.

Objective To investigate the clinical value of the probe melting curve analysis‐based PCR assay for the detection of three types of αT .Methods A total of 149 blood and prenatal archival DNA samples (6 of which were amniotic fluid samples)with three knownαT genes ,which included 63 carriers with Hb CS ,22 cases with Hb QS ,43 individuals with Hb WS and 1 double heter‐ozygote with Hb CS and Hb WS) as well as 20 samples with normalα‐globin gene sequence that had been confirmed by RBD com‐bined with DNA sequencing were selected to test the specificity of probe melting curve analysis by blind analysis .Results The probe melting curve analysis accurately detected 100 of the DNA samples previously characterized by S RBD combined with DNA sequencing .Conclusion Probe melting curve analysis‐based PCR assay for the detection ofαT is featured with rapidity and accuracy and can be applied to clinical and prenatal diagnosis .