Objective To observe the levels of serum leptin in Gaves disease(GD)and thyroiditis(HT)Datients and to discuss the immunological role of leptin in the pathogenesis of autoimmune thyroid disease(AITD).Methods 102 newly diagnosed female AITD patients were divided into 3 groups:GD hyperthyroid group,HT hypothyroid group and subclinical hypothyroid group.Age,sex and BMI-matched 27 euthyroid,healthy subjects served as controis.The levels of FT3,FT4 and sTSH were determined by immunofluorometrie assay.ELISA kit was aDplied to measure the levels of serum leptin.Results Serum FT3 and FT4[(19.74±15.39),(78.25±58.68)pmol/L]levels of GD hyperthyroid patients were obviously higher than those of the controls[(4.87±0.25),(15.96±3.15)pmol/L,P＜0.01],but serum sTSH and leptin levels[(0.15±0.08)mU/L,(8.73±1.92)μg/L]were obviously lower than those of the controls[(3.81±0.19)mU/L,(12.38±3.51)μg/L,P＜0.01or＜0.05].Serum FT3 and FT4[(3.36±0.26),(6.95±3.29)pmol/L]levels of HT hypothyroid patients were obviously lower than those of the controls(P＜0.05),but serum sTSH and leptin levels[(45.48±35.83)mU/L,(17.17±3.82)μg/L]were obviously higher than those of the controls(P＜0.01 or＜0.05).Serum FT3 and FT4[(4.67±0.60),(14.87±2.14)pmol/L]levels of subclinical hypothyroid patients had not statistical difference comparing with those of the controls(P＞0.05),but serum sTSH and leptin levels[(13.67±8.66)mU/L,(16.25±3.67)μg/L]were obviously higher than those of the controls(P＜0.01 or＜0.05).Conclusions Leptin might have an immuoregulation role in the pathogenesis of AITD.In addition,serum levels of leptin in AITD is also influenced by many other related hormones.

Objective To explore the effect of iodine on the pathogenesis of postpartum thymiditis.Methods Forty-four female C57BL/6J mice,8-week old,fed by low iodine dietary(the concentration of iodine≤35 μg/kg),were randomly divided into 4 groups:non-pregnancy experimental autoimmune thymiditis(non-pregnancy EAT)group with 8 mice,EAT of mice was induced by immunization with pig's thyroglobulin(Tg)in the presence of complete Freund's adjuvant.Six mice in non-pregnancy EAT group survived at the end of experiment;normal iodine-PPT(NI-PPT)group,10-fold high iodine-PPT(10HI-PPT)group and 50-fold high iodine-PPT(50HI-PPT)group with 12 mice in each group.The last 3 groups mice,who received the same immunization schedule as the above,were mated with adult male mice followed by induction of EAT.In the end,7,6 and 6 mice were noticed to be pregnant in each group.All animals were killed 4 weeks after postpartum.Histological severity of thyroid specimens was evaluated.The serum level of thyroglobulin antibody(Tg-Ab),thyroid pomxidase antibody(TPO-Ab),TT3 and TT4 were measured by radioimmunoassay(RIA).The expression level of IFN-γ/IL-4 mRNA in spleenwere assayed by RT-PCR.Results Pathological examination showed the infiltration of inflammatory cells.epithelial cell applanation,follicle atrophy or destruction.The severity of inflammation in non-pregnancy EAT bgroup.NI-PPT group and 10HI-PPT group was less serious than that in the 50HI-PPT group,the difference has bstatistical significance(P＜0.05).The level of TPO-Ab in non-pregnancy EAT group,NI-PPI-group,10HI-PPTgroup and 50HI-PPT group wag(14.32±8.85)%,(64.45±10.52)%,(38.46±5.57)%and(90.09±9.98)%.respectively the difference being statistically significant between any two groups(P＜0.05).There was no statisticaldifference(F＝0.484,P＞0.05)of Tg-Ab among non-pregnancy EAT group[(33.74±3.71)%],NI-PPT group [(29.65±2.06)%],10HI-PPT group[(37.21±3.87)%]and 50HI-PPT group[(33.87±4.17)%].There was no statistical difference(F＝1.596,P＞0.05)of TT3 among non-pregnancy EAT group (2.47±0.69)%,NI-PPT group(1.57±0.25)%,10HI-PPT group[(1.60±0.28)%]and 50HI-PPT group[(1.82±0.75)%].The level of TT4 in 50HI-PPT group[(66.68±5.47)%]was lower than that in non-pregnancy group,NI-PPT group and 10HI-PPTgroup[(99.87±5.97)%,(89.13±7.64)%and(91.05±5.82)%],the difference being statistically significant(P＜0.05).The expression level of IFN-γ mRNA was increasing,being 1.02±0.10,1.37±0.10,1.39±0.12 and 1.68±0.06 in non-pregnancy EAT group,NI-PPT group,10HI-PPT group and 50HI-PPT group.The difference had a statistical significance between any two groups except for NI-PPT group and 10HI-PPT group(P＜0.05).The expression level of IL-4 mRNA in 10HI-PPT group(0.49±0.04)and 50HI-PPT group(0.53±0.06)were all higher than non-pregnancy EAT group(0.24±0.05)and NI-PPT group(0.35±O.05),the differences being statistically significant (P＜0.05).Conclusions Adequate iodine supplementation during pregnancy and postpartum period is necessary,but iodine excess could induce postpartum thyroiditis.So iodine supplementation during pregnancy and postpartum should be adequate and reasonable.

Obecfive To study the clinical significance of detecting serum proeollagen type Ⅲ(PCⅢ) and hyaluronie acid(HA)in patients with autoimmune thyroid diseases(AITD).Methods According to the thyroid function,the 114 patients with AITD were divided into hyperthyroidism group(38),hypothyroidism group(35),and sub-hypothyroidism group(41).In addition,40 healthy persons were served as controls.The level of serum PCⅢ was determined with ELISA and that of serum HA with RIA.The level of FT3,FT4 and sTSH were detected by immumnofluorometric assay.Results Serum FT3(18.35±6.19)pmol/L]and FT4[(76.28±23.49)pmol/L]level of patients with hyperthyroidism were obviously higher than those of the controls[(4.75±0.31),(16.12±3.27) pmol/L],but serum sTSH[(0.15±0.07)mU/L]was obviously lower than that of the control[(3.78±0.15)mU/L],the differences were statically significant(P＜0.01).Serum FT3[(3.36±0.26)pmol/L]and FT4 [(6.37±2.19) pmol/L]level of patients with hypothyroidism were both lower than those of the controls(P＜0.05).but serum sTSH[(44.58±13.29)mU/L]was obviously higher than that of the control(P＜0.01).Serum FT3 [(4.86±0.45)pmol/L]and FT4[(15.26±2.78)pmol/L]level of patients with sub-hypothyroidism had no statistical difference compared with those of the controls(P＞0.05),but serum sTSH[(14.26±4.73)mU/L] was obviously higher than that of the controls(P＜0.01).The level of sernm PCⅢ[(4.63±1.22)μg/L]in pafients with hyperthyroidism was significantly higher than that of any other group(P＜0.05).There waB no statistical significant difference in PCⅢ among the patients with hypothyroidism,the patients with sub-hypothyroidism and controls [(3.64±1.12),(3.54±1.17)and(3.56±1.07)μg/L],respectively(P＞0.05).The level of serum HA [(31.13±10.28)μg/L]in patients with hypothyroidism was significantly higher than that of any other group(P＜0.05).There was no statistical significant difference in HA among the patients with hyperthyroidism,the patients with sub-hypothyroidism and controls[(22.24±7.22),(22.43±7.99)and(23.09±9.19)μg/L,respectively,P＞0.05].Conclusions It is very significant to understand myocardial fibrosis early through detecting sernm PCⅢ in patients with hyperthyroidism.Measurement of serum PCⅢ and HA will be useful to discovery hepatic fibrosisearly in patients with a long course of hyperthyroidism.

OBJECTIVETo investigate the clinical features and genetic diagnostic method of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

METHODSA systematic study on the clinical manifestations, neuroimaging characteristics, therapeutic measures and molecular genetics was performed. An investigation on the onset and hereditary pattern of the family was also done.

RESULTSThe main clinical features including poor memory and history of stroke were found. And no risk factors of hypertension and arteriosclerosis were found. A positive family history was confirmed. Neuroimaging examination showed multiinfarct lesions and leukoencephalopathy. All these features are in conformity with those of CADASIL. A mutation in the third and fourth exon of the NOTCH3 gene was identified in the 10 cases of 4 generations. The clinical or subclinical onset in the 10 cases was consistent with classical autosomal dominant inheritance.

CONCLUSIONThe clinical and molecular genetic features of the family accord with CADASIL.

Adult ; CADASIL ; genetics ; pathology ; physiopathology ; Cognition Disorders ; etiology ; DNA Mutational Analysis ; Female ; Genetic Testing ; Humans ; Infarction ; etiology ; Male ; Middle Aged ; Mutation ; Neuromuscular Diseases ; etiology ; Receptors, Notch ; genetics ; Stroke ; etiology

OBJECTIVETrace and toxic elements have great influences on the fetus growth during the pregnancy. The status of Pb, As, Cd, Mn and Zn in maternal and umbilical cord blood and influence factors were analyzed.

METHODSFrom September 2006 to April 2007, 130 pairs of maternal blood and cord blood in total were collected at the time of spontaneous delivery or cesarean section. At the same time, the development of newborn was measured immediately. The concentrations of elements were determined by inductively coupled plasma mass spectrometry, the relationship of these elements between maternal and cord blood were also analyzed.

RESULTSThe median (microg/L) concentration of blood Pb, As, Cd, Mn and Zn in maternal blood were 64.32, 3.81, 0.84, 54.26 and 6312.50. And the median (microg/L) of those elements in cord blood were 35.72, 2.84, 0.32, 78.99 and 2250. The levels of Cd (r=0.341, P=0.000) and As (r=0.552, P=0.000) in maternal blood were positively correlated with the elements in the cord blood. From the questionnaire we conclude that the occupational hazardous factors and room decorated were the risk factors for the blood As and Zn levels. After multilinear regression analysis we also found mother weight, occupational hazardous factors and mother systolic pressure might affect the levels of blood Mn, Zn, As and Cd.

CONCLUSIONSThe levels of these elements were affected by environmental and maternal factors. In this study, although the levels of all heavy metals in pregnant women were below those considered hazardous, however, they were still higher than those in the developed countries. The effects of heavy metals of maternal exposure on developing fetuses should deserve attention further.

Adult ; Arsenic ; blood ; Cadmium ; blood ; Environmental Exposure ; Female ; Fetal Blood ; chemistry ; Humans ; Infant, Newborn ; Lead ; blood ; Male ; Manganese ; blood ; Maternal Exposure ; Pregnancy ; Zinc ; blood

Objective To explore the effect of gene mutations of arsenic transport proteins-muhidrug resistance-associated proteins(MRP1 and MRP2)on phenotype of endemic arsenic poisoning.Methods Two hundreds and thirty-nine rural residents in 3 villages of Shuocheng Region,Shanxi Province were interviewed and examined by simple random sampling who had been lived there for 20 yearn at least.All the objects were divided into two groups on the basis of clinical examination with"The Standard Diagnosis of Endemic Arsenic Poisoning" (WT/S 211-2001):subjectives with skin lesion as a arsenic poisoning group and without skin lesion as a control group. One hundred and ninety-three blood samples were collected from each participanL Seventy-five arsenic poisoning cases and 118 controls were detected the gene mutations in the 2,17,23 exons of M RPI and the 10,18,31 exons of MRP2 by PCR-single strand conformation polymorphism (PCR-SSCP) and compared by multivariate Logistic regression model. Results Seventy-five cases and 164 controls underwent questionnaires. Age[ (58.85±11.26) vs (45.73±11.92),OR = 3.378,P ＜ 0.05],gender[male,57.3%(43/75)vs 27.4%(45/164),OR = 3.553,P＜ 0.01 ],smoking[46.7%(35/75) vs 21.3%(35/164),OR = 3.225,P ＜ 0.01 ],drinking[ 17.3%(13/75) vs 8.5% (14/164),OR = 1.836,P ＞ 0.05],vegetable and fruit intake[5.3%(4/75) vs 9.1%(15/164),OR = 0.560,P ＞ 0.05],egg and meat intake[34.7%(26/75) vs 30.5%(50/164),OR = 1.210,P ＞ 0.05],exposure of pesticide [41.3%(31/75) vs 29.3%(48/164),OR = 1.864,P ＜ 0.05] were tested by Logistic regression model. There was no gene mutation detected in the 23 exon of MRP1 and the 18 exon of MRP2. The gene mutations frequencies of the 2 exons of MRP1 in arsenic poisoning and control groups were 8.00% (6/75) and 5.93% (7/118),respectively;they were 13.33%(10/75) and 8.47%(10/118) of the 17 exons of MRP1,respectively;they were 22.67%(17/75) and 18.64%(22/118) of the 10 exons of MRP2,respectively;they were 5.33%(4/75) and 2.54%(3/118) of the 31 exons of MRP2,respectively. There was no significant difference between two groups(x2 = 0.312,1.165,0.460, 2.794,respectively,all P ＞ 0.05). After age,gender,smoking,drinking,nutritional level and exposure of pesticide being adjusted by multivariate Logistic regression model,there was no significant difference between two groups (OR = 0.803,1.892,2.388,1.098,respectively,all P ＞ 0.05). Conclusions The gene mutations of 2,17,23 exons of MRPI and the 10,18,31 exons of MRP2 may have no effect on the phenotype of endemic arsenic poisoning.

Objective To observe protective effects on rat serum cardiac enzymes and the antioxidant capacity of selenium and vitamin E.Methods According to body weight and 2 × 2 factorial design,eighty male Wistas rats were randomly divided into four groups:low selenium and low vitamin E group(feed containing 23.42％ of the low selenium yeast,excluding vitamin E),low selenium and adequate vitamin E group (feed containing 23.42％ of the low selenium yeast and vitamin E 160 mg/kg),adequate selenium and low vitamin E group(feed containing 46.84％ of the low selenium yeast and sodium seleni 0.25 mg/L in water,excluding vitamin E),adequate selenium and adequate vitamin E group(feed containing 46.84％ of the low selenium yeast,vitamin E 160 mg/kg and sodium selenite 0.25 mg/L in water),20 rats every group.Rats were feed with synthetic feed,and given intraperitoneal anesthesia after 26 weeks of feeding.Blood was collected to observe the impact of selenium and vitamin E on rat cardiac enzymes and myocardial antioxidant capacity and their interactions.Serum creatine kinase (CK) was measured using the continuous monitoring method,creatine kinase isozymes (CK-MB) and lactate dehydrogenase(LDH ) using the immune suppression method,the whole blood GSH-Px assay using the dithiobis nitrohenzoic acid(DTNB) method,serum superoxide dismutase(SOD) using the xanthine oxidase method,total antioxidant capacity (T-AOC) using the complex colorimetry method,the content of propylene glycol (MDA) using the thiobarbituric acid colorimetric method,and reactive oxygen species(ROS) using the colorimetric method.Results Group differences of serum CK,CK-MB,LDH,whole blood GSH-Px activity,serum T-AOC vitality,MDA and ROS content were statistically significant(F=9.797,17.041,48.399,3.744,224.900,49.384,5.045,all P＜ 0.05).Compared with the two low selenium groups and one adequate selenium group,the vitalities of CK,CK-MB,LDH and the contents of MDA[(1577.75 ± 451.87),(1239.15 ± 344.99),(884.25 ± 133.84)U/L,(5.688 ±1.169) × 103 nmol/L; (1474.21 ± 398.38),(1014.84 ± 215.40),(523.00 ± 98.05)U/L,(4.035 ± 0.487 ) × 103 nmol/L and (1180.10 ± 245.51),(948.75 ± 173.68),(676.70 ± 193.63)U/L,(3.406 ± 0.146) × 103 nmol/L]increased significantly in adequate selenium and adequate vitamin E group[( 1056.80 ± 250.98),(721.70 ±129.98),(404.65 ± 72.49)U/L,(3.010 ± 1.270) × 103 nmol/L,all P ＜ 0.05) ].The activity of GSH-Px was obviously increased in the two adequate selenium groups[ (96.611 ± 8.238) × 103,(103.024 ± 8.217) × 103 U/L,all P ＜ 0.05],compared with the two low selenium groups[ (60.356 ± 8.179) × 103,(63.117 ± 8.281) × 103 U/L].Selenium affected the activities of CK,CK-MB and LDH(F =27.09,31.58,29.66,all P＜ 0.01 ),and vitamin E affected the activities of CK-MB and LDH(F=18.9,11.2.all P＜ 0.01 ),but both selenium and vitamin E had no interactions on the activities of CK,CK-MB and LDH (F=0.02,0.001,2.22,all P＞0.05).Selenium affected the activity of GSH-Px and the content of MDA(F=6.74,95.68,all P＜ 0.05),vitamin E affected the activity of T-AOC,the contents of MDA and ROS(F=6.42,36.73,8.43,all P＜0.05),but selenium and vitamin E had interactions only on the content of MDA(F =13.82,P＜ 0.05).Conclusions Long-term selenium or vitamin E deficiency,can reduce the body's antioxidant capacity,leading to the occurrence of myocardial injury.Selenium and vitamin E can improve the body's oxidation capacity,playing a role in myocardial protection.

The purpose of this study was to explore the clinical efficacy and safety of Gynostemma pentaphyllum (G. pentaphyllum) in the treatment of hyperlipidemia, and to provide systematic evaluation basis for clinical application. CNKI, Wanfang Data, VIP, Web of science, PubMed, Embase and Cochrane Library were searched for randomized controlled trials (RCTs) about G. pentaphyllum in the treatment of hyperlipidemia. Review Manager 5.4 were used for statistical analysis. Through reading topics, abstracts, and full texts, 27 papers with 2311 cases involved that met the inclusion and exclusion criteria were finally included for the analysis. In terms of curative effect, the effect of G. pentaphyllum alone in increasing high density lipoprotein (HDL) index was better than that of conventional treatment, and the effect of reducing total cholesterol (TC), triglyceride (TG) and low density lipoprotein (LDL) was similar to that of conventional treatment. There was a synergistic effect between G. pentaphyllum and conventional drugs, and the combination of G. pentaphyllum and conventional drugs was superior to conventional treatment in reducing TG and increasing HDL. G. pentaphyllum can also decrease the levels of serum glutamic pyruvic transaminase and glutamic oxaloacetic transaminase in the treatment of hyperlipidemia, indicating a certain protective function of the liver. In terms of safety, there were fewer cases of adverse reactions in the G. pentaphyllum treatment group, and the adverse reaction events reported in the literature was mild. According to the results of meta-analysis, G. pentaphyllum was effective in the treatment of hyperlipidemia, and it has the potential to be combined with traditional drugs, has a certain liver protection function, and was superior to traditional drugs in the treatment of hyperlipidemia.

OBJECTIVETo conduct a molecular epidemiological survey on the mitochondrial DNA C1494T mutation in non-syndromic hearing loss patients in Chinese population.

METHODSPolymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) were used to screen the mitochondrial DNA 12S rRNA C1494T mutation in 20 patients with aminoglycoside antibiotic induced hearing loss, 136 sporadic non-syndromic hearing loss patients and 50 probands of pedigrees with non-syndromic hearing loss.

RESULTSThe C1494T mutation did not appear in all cases except for the positive control.

CONCLUSIONIncidence of mitochondrial DNA C1494T mutation is much lower than that of mitochondrial DNA A1555G mutation in non-syndromic hearing loss of Chinese population. Mitochondrial DNA C1494T mutation may be a rare variation in non-syndromic hearing loss and is not the main cause of aminoglycoside antibiotic induced-deafness.

Adolescent ; Aminoglycosides ; adverse effects ; Anti-Bacterial Agents ; adverse effects ; Asian Continental Ancestry Group ; genetics ; Child ; China ; DNA, Mitochondrial ; genetics ; Female ; Hearing Loss ; chemically induced ; ethnology ; genetics ; Humans ; Male ; Point Mutation ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; RNA, Ribosomal ; genetics

This study was aimed to explore whether multiple common gene mutations of leukemia synergistically involved in acute promyelocytic leukemia (APL) pathogenesis, and to investigate their relevance to clinical features, cytogenetics and molecular risk stratification. 84 specimens of admitted de novo APL patients from February 2005 to October 2010 were collected, the gene mutations of bone marrow mononuclear cells and clinical features of mutation-positive patients were analyzed by genomic DNA-PCR. The results indicated that the prevalence of mutations was 60.7% (51/84), in which the mutations with the highest incidence were found as FLT3-ITD, reaching 27.4% (23/84). Next, there were 12 cases WT1 mutation, 9 for FLT3-TKD, 7 for TET2, 5 for N-RAS, 4 for ASXL1, 2 for EZH2 mutation and 1 positive case in MLL-PTD, IDH1 and CBL mutation respectively. No mutation was found in other JAK1, DNMT3, c-Kit, NPM1, IDH2, RUNX1 and JAK2 (V617F) common leukemia-related genes. Combined analysis with clinical data demonstrated that the patients with FLT3-ITD mutation displayed higher white blood cell counts, while the patients with N-RAS mutation showed lower platelet counts. Overall survival of these patients was obviously shorten as compared with patients with wild-type. This difference between mutant and wild-type of all above mentioned cases was statistically significant (P < 0.05). The difference between APL with simple t (15;17) and additional abnormal karyotype was not statistically significant. It is concluded that the FLT3-ITD mutation is recurrent genetic change in APL, and together with N-RAS mutation indicates poor prognosis. Additional abnormal karyotype does not associate with prognosis of APL.
Adolescent ; Adult ; Aged ; Child ; DNA Mutational Analysis ; DNA-Binding Proteins ; genetics ; Enhancer of Zeste Homolog 2 Protein ; Female ; Genes, ras ; Humans ; Leukemia, Promyelocytic, Acute ; genetics ; Male ; Middle Aged ; Mutation ; Nuclear Proteins ; genetics ; Polycomb Repressive Complex 2 ; genetics ; Prognosis ; Proto-Oncogene Proteins ; genetics ; Proto-Oncogene Proteins c-kit ; genetics ; Repressor Proteins ; genetics ; Tandem Repeat Sequences ; Young Adult ; fms-Like Tyrosine Kinase 3 ; genetics