Objective　To observe the characteristics and statistics in the bi-variable distribution of thyroid volume (ml) and urine iodine level (μg/L) of children aged 8,9,10 years in China,1999.Methods　Classing analysis.Results　①Data of 12982 cases collected from all country are analyzed with cluster method and three clusters are delimitated as follows;②in first cluster,according to the calculation of median,the volume of thyroid gland is small (2.2ml) and the level of urinary iodine is high (369.1μg/L);③in second cluster,the volume of thyroid gland is middle size (3.4ml) but the level of urinary iodine is significantly lower (88.0μg/L) than that in the first cluster;④in third cluster,the thyroid volume is highest (4.1ml) and the level of urine iodine is high (363.4μg/L),too;⑤the meanings of the classifying results are discussed in detail.Conclusions　The results of the cluster analysis reported here and the typical analyses of the previous papers suggested that no low iodine problems be found out but the correlation between the increasing of thyroid volume and the higher level of urine iodine be observed by us in the studies.

Objective　To discover and discuss the charac ter and statistics of frequency distribution of thyroid volume (TV) in Chinese c hildren aged 8,9,10 years for setting up an effective strategy to control the endemic goiter in China.Methods　The TV is measured by B-ultrasonography.The da ta of a great sample collected from all country are treated with computer centra lly in Chinese Research Center for Endemic Disease Control.Results　①In 1999,the statistics of TV(ml) of children aged 8,9,10 years in China are 3.6 of mean,3.4 of median,3.0 of mode,5.9 of 95% point and 7.9 of 99% point.②The values of 95% point in frequency distribution of TV in 8,9,10 years of boy in order are 4.8,5.6 and 6.3,and in girl they are 5. 2,5.8 and 6.5.③The disparity in medians of TV of children is very significant between the studied provinces;the lowest is Shanghai,the mediums are Anhui and Sh anxi,and the higher ones are Chongqing,Guizhou and Xinjiang,and the medians of the TV in these three categories are 1.2,3.7 and 4.0 in order.④Differential effe cts of palpation method in detection of TV are discussed carefully in this paper .Conclusions　The cause inducing to the significant diffe rences of children TV in several regions in China is not known yet,but it is not the nutritional problem of iodine certainly.

OBJECTIVETo detect the disease-causing point mutations in the dystrophin gene of Duchenne muscular dystrophy (DMD) patients.

METHODSThe approach of denaturing high performance liquid chromatography (DHPLC) coupling with sequencing was used to screen the point mutations of 79 exons and the untranslated regions of dystrophin gene without large deletions/duplications, which was in 6 unrelated DMD probands from 6 DMD families.

RESULTSFive disease-causing mutations, 697-698insGT, C616T, G1255T, C4279T, and C2302T, were ides created the new stop codons in downstream sites of mutations, respectively. In addition to the disease-causing point mutations, a point mutation T5586+61A in intron 39 was also found at patient 3, and a missense mutation A694T in exon 8 was detected at patient 5. Four point mutations, C2168+13T, 5740-13dupG, G5234A and C5280T, were also detected at patient 6 whose causative point mutation was unavailable. Seven point mutations have not been reported previously. Bi-directional PCR amplification of specific alleles (Bi-PASA) method was established to distinguish the haplotypes of heterozygote or homozygote in a single PCR reaction.

CONCLUSIONVia automated DHPLC screening or detecting the subexonic mutations in dystrophin gene is feasible to clinical laboratories, and also is a superior method in terms of sensitivity and efficiency.

Base Sequence ; Chromatography, High Pressure Liquid ; DNA Mutational Analysis ; Dystrophin ; genetics ; Gene Duplication ; Humans ; Male ; Muscular Dystrophy, Duchenne ; genetics ; Point Mutation ; Polymerase Chain Reaction ; Sequence Deletion

OBJECTIVETo evaluate the prognostic value of plasma brain natriuretic peptide (BNP) and C-reactive protein (CRP) in patients with acute coronary syndromes (ACS) underwent percutaneous coronary intervention (PCI).

METHODSPatients with ACS underwent PCI in our hospital from December 2004 to September 2005 were included in this study. Plasma BNP (n = 189) and CRP (n = 141) were measured at a median of (34.2 +/- 16.3) hours from symptom onset, total mortality and the risk for major adverse cardiac events (MACE, including death, recurrent MI, recurrent angina, heart failure, readmission for any reason) at 30 days and at 3 months was analyzed.

RESULTSPatients were divided into 4 groups according to their BNP levels (BNP 100 ng/L to 300 ng/L to 600 ng/L) and the 3-month mortality was 0%, 1.4%, 7.7%, 48.3% and 3-month incidence of MACE was 7.9%, 17.1%, 57.7%, 79.3% respectively. Multivariate logistic regression analyses showed that the plasma BNP level predicted 30-day (r = 0.8515, P < 0.01) and 3-month (r = 0.9201, P < 0.01) mortality and 30-day (r = 0.7066, P < 0.01) and 3-month (r = 0.7090, P < 0.01) incidence of MACE independent of other known prognostic factors such as age, gender, family heredity, hypercholesterolemia diabetes, hypertension, smoking and LVEF. Patients were divided into 3 groups according to their CRP levels (CRP 8.0 mg/L to 32.0 mg/L) and 3-month mortality was 2.7%, 7.7% and 28.6% and 3-month incidence of MACE was 28.4%, 41.0% and 60.7% respectively. CRP predicted 30-day (r = 0.5882, P = 0.0044) and 3-month (r = 0.5235, P = 0.0038) mortality independent of traditional risk factors, and predicted 30-day (r = 0.2705, P = 0.0380) and 3-month (r = 0.2290, P = 0.0429) incidence of MACE after adjustment for patient age. CRP lost its predictive value after BNP was introduced into the model, while BNP was still an independent predictor for mortality and incidence of MACE at 30 days and 3 months in ACS patients underwent PCI.

CONCLUSIONBoth plasma BNP and CRP are good predictors for early mortality and MACE incidence in ACS patients underwent PCI.

Acute Coronary Syndrome ; blood ; diagnosis ; therapy ; Adult ; Aged ; Aged, 80 and over ; Angioplasty, Balloon, Coronary ; C-Reactive Protein ; metabolism ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Natriuretic Peptide, Brain ; blood ; Predictive Value of Tests ; Prognosis

OBJECTIVETo assess complete remission (CR), the overall survival (OS), event-free survival (EFS) and adverse events of newly diagnosed acute promyelocytic leukemia (APL) with homoharringtonine (HHT) plus ATRA, to evaluate the therapeutic effect by comparing HHT plus ATRA with daunorubicin plus ATRA as induction regimen (HA with DA as post-remission regimen).

METHODS115 APL patients (54 in HHT group, 61 in DNR group) after long-term follow-up were enrolled in the analyses of clinical feature, chromosome karyotype, molecular biology, OS and EFS.

RESULTSThe overall CR of 115 patients was 100%, the median interval to achieve hematological CR was 32 (22 - 43) days, the overall median OS was within 0.23 - 77.34 months, median EFS was within 0.23 - 77.34 months. 3-year OS rate was 93%, 5-year OS rate 93%, 3-year EFS rate 85% and 5-year RFS rate 75% respectively. Converting to PML-RARα PCR-negative after the induction therapy in the HHT and DNR group was 31.3% and 15.5% respectively, at the end of 1 consolidation course was 68.6% and 77.6% respectively, while the remaining 4 patients tested PML-RARα PCR-negative at the end of 2 consolidation courses in the DNR group. While both groups obtained the identical molecular biology relapse rate (9.8% and 8.6%, respectively). Survival analysis indicated that no significant difference was found on OS and EFS between the HHT group and the DNR group (P = 0.206 and 0.506). 5-year OS rate was 87% for the HHT group while 98% for the DNR group, 5-years EFS rate was 80% for the HHT group while 71% for the DNR group. And the risk group was not the factor affecting OS and EFS (P = 0.615 and 0.416). Grade 2 fever in the HHT group was less than in the DNR group during induction therapy. And no difference was found in terms of liver dysfunction, renal dysfunction, cardiac dysfunction, and hematologic toxicity between two groups.

CONCLUSIONOur study demonstrated comparable therapeutic effect of HHT or DNR on APL. HHT was also well tolerated and didn't cause serious adverse events.

Adolescent ; Adult ; Aged ; Antineoplastic Combined Chemotherapy Protocols ; therapeutic use ; Female ; Harringtonines ; administration & dosage ; Humans ; Leukemia, Promyelocytic, Acute ; drug therapy ; Male ; Middle Aged ; Prognosis ; Treatment Outcome ; Tretinoin ; administration & dosage ; Young Adult

OBJECTIVETo construct the eukaryotic expression vector of human microdystrophin gene and observe its expression in rat mesenchymal stem cells (rMSCs) in vitro.

METHODSThe plasmid PBSK-MICRO containing human microdystrophin cDNA was digested by restriction endonuclease, and the resultant microdystrophin fragment was inserted into the NotI site of pcDNA3.1(+) to prepare the eukaryotic expression vector-pcDNA3.1(+)/ microdystrophin, which was identified by endonuclease digestion and sequencing. The recombinant plasmid was transfected into rMSCs via lipofectamine, and after G418 selection, the expression of microdystrophin was detected by RT-PCR and indirect immunofluorescence assay.

RESULTSMicrodystrophin gene fragment was correctly inserted into the plasmid pcDNA3.1(+), as conformed by sequencing and digestion with Not I and Hind III. The total mRNA of the transfected rMSCs was extracted and microdystrophin mRNA expression was found in the cells by RT-PCR. Indirect immunofluorescence assay for the protein expression of microdystrophin showed bright red fluorescence in the transfected rMSCs.

CONCLUSIONEukaryotic expression plasmid pcDNA3.1(+)/microdystrophin has been constructed successfully and microdystrophin can be expressed in transfected rMSCs in vitro, which may facilitate further research of Duchenne muscular dystrophy treatment by genetically modified allogeneic stem cell transplantation.

Animals ; Base Sequence ; Cells, Cultured ; Dystrophin ; biosynthesis ; genetics ; Fluorescent Antibody Technique, Indirect ; Gene Expression ; Humans ; Mesenchymal Stromal Cells ; cytology ; metabolism ; Molecular Sequence Data ; Peptide Fragments ; biosynthesis ; genetics ; Plasmids ; genetics ; RNA, Messenger ; biosynthesis ; genetics ; metabolism ; Rats ; Rats, Sprague-Dawley ; Reverse Transcriptase Polymerase Chain Reaction ; Transfection

BACKGROUNDTo explore the pathological features and pathogenesis of severe acute respiratory syndrome (SARS) to provide evidence for the clinical treatment and prevention of SARS.

METHODSPathological features of 2 cases of full autopsy and 4 cases of needle biopsy tissue samples from the patients who died from SARS were studied by light and electron microscopy. The distribution and quantity of lymphocyte subpopulations in the lungs and immune organs from SARS patients were analyzed by immunohistochemistry. The location and semi-quantitative analysis of SARS coronavirus in the tissue specimens were studied by electron microscopy, in situ hybridization and immunohistochemistry.

RESULTSIn total of 6 cases, diffuse alveolar damage and alveolar cell proliferation were common. The major pathological changes of 2 autopsy cases of SARS in lung tissues were acute pulmonary interstitial and alveolar exudative inflammation, and 2 autopsy and one biopsy lung tissues showed alveolar hyaline membrane formation. Terminal bronchiolar and alveolar desquamation of lung tissues in one autopsy and 2 biopsy cases were noted. Among 6 cases, 2 biopsy cases presented early pulmonary fibrosis and alveolar organization. Meanwhile, the immune organs, including lymph nodes and spleens from 2 autopsy cases of SARS whose disease courses were less than 12 days showed extensive hemorrhagic necrosis, reactive macrophage/histocyte proliferation, with relative depression of mononuclear and granulocytic clones in the bone marrows. However, spleen and bone marrow biopsy tissue samples from 4 dead SARS cases whose clinical course lasted from 21 to 40 days presented repairing changes. SARS coronaviruses were mainly identified in type I and II alveolar epithelia, macrophages, and endothelia; meanwhile, some renal tubular epithelial cells, cardiomyocytes, mucosal and crypt epithelial cells of gastrointestinal tracts, parenchymal cells in adrenal glands, lymphocytes, testicular epithelial cells and Leydig's cells were also detected by electron microscopy combined with in situ hybridization. The semi-quantitative analysis of lymphocyte subpopulations revealed that the proportion of CD8+ T lymphocytes were about 80% of the total infiltrative inflammatory cells in the pulmonary interstitium, with a few CD4+ lymphocytes CD3+, CD4+, CD8+ or CD20+ lymphocyte subpopulations were obviously decreased and there was imbalance in number and proportion, while CD57+, CD68+, S-100+ and HLA-DR+ cells were relatively increased in lymph nodes and spleens.

CONCLUSIONSHistologically, the pulmonary changes could be divided into acute inflammatory exudative, terminal bronchiolar and alveolar desquamative and proliferative repair stages or types during the pathological process of SARS. SARS coronavirus was found in multi-target cells in vivo, which means that SARS coronavirus might cause multi-organ damages which were predominant in lungs. There were varying degrees of decrease and imbalance in number and proportion of lymphocyte subpopulations in the immune organs of the patients with SARS. However, these changes may be reversible. It was found that cellular immune responses were predominant in the lungs of SARS cases, which might play an important role in getting rid of coronaviruses in infected cells and inducing immune mediated injury.

Aged ; Female ; Humans ; Lung ; immunology ; pathology ; virology ; Lymphocyte Subsets ; immunology ; Male ; Middle Aged ; SARS Virus ; isolation & purification ; ultrastructure ; Severe Acute Respiratory Syndrome ; immunology ; pathology ; virology

OBJECTIVETo investigate the clinical and lab features of sibling brother and sister both with Duchenne muscular dystrophy (DMD).

METHODSWe conducted comprehensive clinical and lab investigations including the test of serum enzymes, electromyography (EMG), electrocardiography, color Doppler echocardiography, HE staining of skeletal muscles, immunohistochemical study of dystrophin and utrophin, multiple ligation probe amplification (MLPA) on exon 1-79 of dystrophin gene, and short tandem repeat-poly- merase chain reaction of CA repeats located in dystrophin gene.

RESULTSThese two patients were confirmed to suffer from DMD. They were characterized by typical features of DMD including typical clinical manifestations, increased serum enzymes, EMG presenting myogenic impairment, HE staining presentation belonging to DMD, negative dystrophin in brother, and inconstantly positive on the sarcolemma of sister. Furthermore, no deletion or duplication was found in the 1-79 exons of dystrophin gene. The suffering brother and sister carried the same maternal X chromosome.

CONCLUSIONSCarriers of DMD gene show typical clinical and laboratory manifestations of DMD. Comprehensive examinations should be performed for such carriers.

Dystrophin ; genetics ; Female ; Genetic Linkage ; Heterozygote ; Humans ; Male ; Muscular Dystrophy, Duchenne ; genetics ; metabolism ; physiopathology ; Siblings

Objective To study the tolerability and safety of single and multiple doses of Picika oral solution in healthy volunteers.Methods A single center, randomized, single -blind, placebo -controlled, dose -escalation study was designed.50 patients were given single dose, and 10 cases were given multiple doses.All of them had half male and fe-male.Single -dose group: 20 mL(4 subjects), 40 mL(6 subjects), 60 mL(10 subjects; 2 using placebo), 90 mL(10 subjects; 2 using place-bo), 120 mL (10 subjects ; 2 using placebo), 160 mL (10 subjects; 2 using placebo); multiple doses group: 10 subjects(2 using placebo), 40 mL? times-1 , tid, continuous medication for 10 days.Results Of the sixty healthy subjects enrolled , 58 finally completed the trial, and two shed.One case (female) of adverse event in single -dose 160 mL group was reported: her ctivated partial thromboplastin time (APTT) was ab-normal with clinical significance.It may not be associated with the medi-cation.In multiple doses group, one case of abdominal pain (female) was reported, may not be associated with the medication.Conclusion Single and multiple doses of Picika oral solution are safe and well tolera -ted in healthy subjects.

Objective: To evaluate the impact of KIT D816 mutation on the salvage therapy in relapsed acute myeloid leukemia (AML) with t(8;21) translocation. Method: The characteristics of the first relapsed AML with t(8;21) translocation from 10 hospitals were retrospectively collected, complete remission (CR(2)) rate after one course salvage chemotherapy and the relationship between KIT mutation and CR(2) rate was analyzed. Results: 68 cases were enrolled in this study, and 30 cases (44.1%) achieved CR(2). All patients received KIT mutation detection, and KIT D816 mutation was identified in 26 cases. The KIT D816 positive group had significantly lower CR(2) compared with non-KIT D816 group (23.1% vs 57.1%, χ(2)=7.559, P=0.006), and patients with longer CR(1) duration achieved significantly higher CR(2) than those with CR(1) duration less than 12 months (74.1% vs 31.9%, χ(2)=9.192, P=0.002). KIT D816 mutation was tightly related to shorter CR(1) duration. No significant difference of 2 years post relapse survival was observed between KIT D816 mutation and non-KIT D816 mutation group. Conclusion: KIT D816 mutation at diagnosis was an adverse factor on the salvage therapy in relapsed AML with t(8;21) translocation, significantly related to shorter CR1 duration, and can be used for prediction of salvage therapy response. KIT D816 mutation could guide the decision-making of salvage therapy in relapsed AML with t(8;21) translocation.
Antineoplastic Combined Chemotherapy Protocols ; Cytarabine ; Humans ; Leukemia, Myeloid, Acute/therapy* ; Prognosis ; Retrospective Studies ; Salvage Therapy