OBJECTIVETo identify the ETV6 gene rearrangement in patients with myelodysplastic syndromes (MDS) and explore its relationship with prognosis and disease stages.

METHODSETV6 rearrangement in 58 MDS cases were detected by conventional cytogenetics and Split-signal FISH. RT-PCR was used to detect 9p24-12p13 balance translocation with special designed primers ETV6F1/F2 and JAK2R1/R2. The relationship between ETV6 rearrangement and prognosis and disease staging in MDS patients was analyzed.

RESULTSETV6 rearrangement were found in 4 (6.9%) of 58 cases, among which ETV6/JAK2 fusion was identified by RT-PCR in 1 (1.7%) case. The mean follow-up duration was 12 months. All 4 patients (100%) with rearrangement transformed into acute leukemia, with a median survival time (MS) of 7 months; while 10 patients (17%) in the non-translocation group transformed to acute leukemia, with a MS of 28 months. In addition, all 4 patients (100%) with rearrangement were in advanced stage of MDS( RAEB), while 17 cases (31.5%) in non-rearrangement group were in that stage.

CONCLUSIONSETV6 rearrangement has higher expression rate (6.9%), and is closely associated with disease stage and prognosis in MDS.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Female ; Gene Rearrangement ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Middle Aged ; Myelodysplastic Syndromes ; genetics ; pathology ; Neoplasm Staging ; Prognosis ; Proto-Oncogene Proteins c-ets ; genetics ; Repressor Proteins ; genetics

OBJECTIVETurner's syndrome (TS) is characterized by the absence of an X chromosome or the presence of a structurally abnormal X chromosome in a phenotypic female. It was recently reported that autoimmune thyroiditis (AIT) was found in 38% of white patients with TS, and few studies in this aspect have been conducted in China. The purpose of this study was to determine the frequency of AIT among TS patients and risk factors for development of thyroid dysfunction in Chinese children with TS.

METHODSSerum antithyroglobulin antibody (TgAb), thyroperoxidase antibody (TPOAb) and thyroid function (T(3), T(4) and TSH) of 24 children with TS (mean age 12.9 +/- 2.4 years, range 4.8 - 16.8 years) were assessed. Their karyotype distribution was as follows: thirteen patients with 45, XO kayrotype, eight patients with structurally abnormal X chromosome, two with X mosaic kayrotype and one with 46, XX. Techniques including radioimmunoassy and elctro-chemiluminescence immunoassy were used in this study. All TS children were divided into two groups. Group one was thyroid autoantibodies (TAA)-positive group, the levels of TgAb and/or TPOAb in them were higher than the normal levels (TgAb < 30%, TPOAb < 20%), respectively, and the remaining patients were assigned into TAA-negative group.

RESULTSSeven of the 24 (29%) patients had higher levels of TgAb and TPOAb than the normal values (< 30% and < 20%). The level of serum TSH [6.1 (3.6-100.0) mU/L] in TAA-positive group was significantly higher than that [3.9 (1.7-7.9) mU/L] in TAA-negative group (P < 0.05). The frequency of hypothyroidism or subclinical hypothyroidism in TAA-positive group (5/7) was higher than that in TAA-negative group (3/17) (P < 0.05).

CONCLUSIONThe positive rate of serum TAA in children with TS was 29%. About 70% TS children with positive serum TAA developed hypothyroidism or subclinical hypothyroidism. The results have provided the basis for regular follow-up assessment of thyroid autoantibodies and thyroid function in children with TS, and these measures are of importance for timely diagnosis of thyroid dysfunction and application of appropriate treatment.

Adolescent ; Age Determination by Skeleton ; Autoantibodies ; blood ; Child ; Child, Preschool ; Female ; Humans ; Iodide Peroxidase ; immunology ; Thyroid Gland ; physiopathology ; Turner Syndrome ; immunology ; physiopathology

Adolescent ; Fucosyltransferases ; genetics ; Gene Rearrangement ; Humans ; Leukemia, Myeloid, Acute ; genetics ; Male ; Protein-Tyrosine Kinases ; genetics

OBJECTIVETo investigate Wilms' tumor gene (WT1) expression levels in bone marrow (BM) of acute leukemia patients (ALs).

METHODSA real-time quantitative reverse transcriptase polymerase chain reaction (RQ-RT-PCR) method was established for detecting WT1 and internal reference GAPDH expression levels in BM of 108 ALs and 23 non-leukemia controls by Light Cycler.

RESULTSThe median expression levels of WT1 in 70 newly diagnosed ALs and 11 relapsed ALs were statistically higher than those in 23 ALs in complete remission (CR) and 23 non-leukemic controls (75.10 and 89.56 vs 2.07 and 1.51 respectively). No statistic differences was found between the CR group and control group, nor between the newly diagnosed group and relapsed group. Of the 70 newly diagnosed ALs, median WT1 expression level of acute granulocytic leukemias was significantly higher than that of acute monocytic leukemias (M(5)), but there was no statistic differences among the M(1), M(2), M(3) and ALL subtypes. Furthermore the WT1 levels were not correlated to peripheral WBC counts, BM blast percentage and multidrug resistant gene (mdr1) expression at presentation, but correlated to chromosome karyotypes. Dynamic analysis of WT1 levels of 2 patients on treatment showed that WT1 expression levels predicted relapse.

CONCLUSIONWT1 expression levels in ALs were strikingly higher than that in non-leukemias. WT1 can be a marker for detecting MRD and evaluating therapy efficacy in leukemias.

Acute Disease ; Adolescent ; Adult ; Aged ; Bone Marrow Cells ; metabolism ; Child ; Female ; Gene Expression Regulation, Leukemic ; Humans ; K562 Cells ; Leukemia ; blood ; genetics ; Leukemia, Monocytic, Acute ; blood ; genetics ; Leukemia, Myeloid ; blood ; genetics ; Male ; Middle Aged ; Reverse Transcriptase Polymerase Chain Reaction ; methods ; WT1 Proteins ; genetics ; Young Adult

Aged ; Humans ; Hypercalcemia ; complications ; Liver Neoplasms ; complications ; Lymphoma ; complications ; Male

Objective:To investigate the sleep status of elderly hypertensive patients stratified into the group of high risk or above in a community.Methods:1 606 patients aged over 65 years were selected from the hypertension database of Gumei Community Health Service Center, Minhang District, Shanghai, including 757 males and 849 females.Pittsburgh Sleep Quality Index (PSQI) was used to investigate the population.Results:43.2% of the patients had sleep disorders.The PSQI score was 7.09±2.95 in the males and 8.07±3.39 in the females (P<0.05).In terms of age, the prevalence of sleep disorders among the group of 65 to 69 years, the group of 70 to 74 years and the group of older than 75 years was 40.1%, 42.6%, and 49.4%, respectively.The percentage of sleep disorders in patients with diabetes and those without diabetes was 45.4% and 42.3% (P<0.05).In characterizing the sleep disorder, 51.2% of the patients had difficulty falling asleep frequently, 54.8 % of them spent more than six hours in bed but most of these patients (over 95%) had a low sleep efficiency, staying awake about one third (35%) of the time in bed.In the treatment of sleep disorders, less than one-third of the patients took sleeping pills, and about 13% of them took sleeping pills regularly.In evaluation of the impact of sleep disorders, nearly 40% of the patients had daytime dysfunction.Conclusions:Among the elderly hypertensive patients stratified into the group of high risk or above, sleep disorders are common.Female, advanced age and diabetes are risk factors to sleep disorders.Which should be paid attention to health workers.

OBJECTIVETo study the effect of Hongjingtian (Gadol) injection on cardiac hemodynamics and myocardial oxygen consumption for analyzing its underlying mechanism in the treatment of coronary heart disease.

METHODA total of 20 dogs anesthetized with pentobarbital sodium (30 mg x kg(-1), i.v.) were evenly randomized into control group, low-dose Gadol (LDG) group, high-dose Gadol (HDG) group and Herbesser Injection group. The blood flow volume (BFV) of the left coronary artery and cardiac output (CO), left ventricular pressure (LVP), maximum ascending rate (dp/dtmax) of LVP, mean arterial pressure (MAP) of the femoral artery, oxygen contents of the coronary artery and coronary vein (venous sinus), oxygen consumption index (OCI), cardiac index (CI), coronary artery resistance (CAR) and total peripheral resistance (TPR) as well as oxygen utilization rate (OUR) were detected respectively.

RESULTAfter venous injection of Gadol, CAR, MAP, TPR, OCI, myocardial oxygen consumption and heart rate lowered significantly (P < 0.05-0.01), while BFV and blood oxygen content of the venous sinus increased considerably (P < 0.05-0.01) in comparison with pre-injection. No significant differences were found in LVP and myocardial contractivity between control group and LDG, and between control and HDG groups respectively.

CONCLUSIONIt showed dilation of the coronary artery and reduction of the cardiac afterload after injection of Gadol. Besides, CO and stroke volume increased considerably and the cardiac effective work was raised without any significant simultaneous increase of both myocardial contractility and LVP. A decrease in the myocardial oxygen consumption and reduction of OCI indicates an improvement of the oxygen supply of the myocardium, and a favorable regulation of the compliance of the cardiac vessels. As a result, the cardiovascular performance was ameliorated. The abovementioned improvement of these indexes may contribute to the therapeutic effect of Gadol in the treatment of coronary heart disease in clinic.

Animals ; Blood Pressure ; drug effects ; Cardiac Output ; drug effects ; Dogs ; Drugs, Chinese Herbal ; isolation & purification ; pharmacology ; Female ; Heart Rate ; drug effects ; Hemodynamics ; drug effects ; Injections, Intravenous ; Male ; Myocardium ; metabolism ; Oxygen ; metabolism ; Plants, Medicinal ; chemistry ; Random Allocation ; Rhodiola ; chemistry ; Vascular Resistance ; drug effects

China ; epidemiology ; Diabetes Mellitus ; diagnosis ; epidemiology ; metabolism ; Glycated Hemoglobin A ; metabolism ; Humans ; Prevalence

Objective To investigate the technique of the suprameatal approach for cochlear implantation in Chinese profound sensory heating loss children.Methods Suprameatal approach for cochlear implantation were used in 50 cases(total 53 ears)with profound sensory hearing loss from May 2005 to January 2007.The electrode was passed through the suprameatal tunnel and went between the incus and chorda tympani into the scala tympani.Results Electrodes were completely inserted in 51 ears.There were no postoperative complications in all cases.Although the long effect need to be observed,all cases received better heating and speech development benefit from cochlear implantation in the follow-up period.Among the 50 cases,26 had speech perception in the open condition;18 patients could speak short sentences although not clearly;and 6 patients learned to speak individual words only.Conclusions The suprameatal approach was found to be a simple and safe technique that does not need mastoidectomy and avoid endangeting the facial nerve and the chorda tympani.It enables wide exposure of middle ear and is especially suitable for cases with narrow facial recess or anteriorly located facial nerve.