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1.
Front Pediatr ; 7: 237, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31316949

RESUMO

Kawasaki disease (KD) is an acute vasculitis, which leads to 20% of sufferers developing coronary artery aneurysm in children if not appropriately treated. Therefore, the early diagnosis of KD is essential for alleviating the risk of developing heart disease. MicroRNAs (miRNAs) are a large class of small non-coding RNAs which post-transcriptionally regulate gene expression and have been shown to play critical roles in numerous biological processes and diseases. In this study, we used high-throughput miRNA sequencing and found dozens of miRNAs are highly expressed in platelets. By comparing the miRNA expression profile of platelets of acute KD patients and other febrile patients, miR-222-3p is validated to be significantly upregulated in platelets of acute KD patients. Furthermore, KEGG pathway analysis shows that targets of miR-222-3p are enriched in immune-related signaling pathways. Our study uncovers the potential of miR-222-3p in platelets as biomarker for early diagnosis of Kawasaki disease.

2.
Int J Clin Pract ; : e13279, 2018 Sep 30.
Artigo em Inglês | MEDLINE | ID: mdl-30269402

RESUMO

OBJECTIVE: The objective of this study was to investigate the association between metabolically healthy obese (MHO) phenotype and the risk of cardiovascular disease (CVD). METHODS: A total of 9393 subjects aged ≥40 years were enrolled in the cohort study (2011-2015). The participants were stratified by body mass index category and metabolic risk at baseline, and incidence of CVD was ascertained at follow-up. RESULTS: The MHO accounted for 6.7%. Compared with the metabolically healthy normal weight (MHNW) group, MHO subjects demonstrated increased risk of CVD events (HR = 1.91; 95% CI, 1.13-3.24). In people with obesity, there was no significant difference on increasing risk of incidence of CVD in the metabolically unhealthy individuals compared with metabolically healthy individuals (HR = 1.19; 95% CI, 0.74-1.91). Female (OR = 1.97; 95% CI, 1.06-3.64), smoking (OR = 2.09; 95% CI, 1.06-4.10), a larger waist circumference (OR = 1.07; 95% CI, 1.03-1.10) and higher LDL cholesterol levels (OR = 1.55; 95% CI, 1.20-2.00) were independent risk factors of the development of the MHO to the metabolically unhealthy obese (MUO) phenotype. CONCLUSIONS: The risk of CVD events of MHO phenotypes is similar to MUO phenotypes; both are higher than the MHNW phenotypes.

3.
Medicine (Baltimore) ; 97(2): e9084, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29480822

RESUMO

Pituitary stalk interruption syndrome (PSIS) is associated with simultaneous or subsequent pituitary hormone deficiencies (PHDs). Although the clinical features of multiple PHDs are well known, the status of the thyrotrophic axis in PSIS has not been thoroughly investigated.The clinical data of 89 PSIS patients and 34 Sheehan syndrome (SS) patients were retrospectively analyzed.The prevalence of central hypothyroidism in the PSIS patients and the SS patients was 79.8% and 70.6%, respectively. The thyroid-stimulating hormone (TSH) levels in the PSIS patients were significantly higher in comparison with the SS patients (5.13 ±â€Š3.40 vs 1.67 ±â€Š1.20 mU/L, P < .05). TSH elevation (8.79 ±â€Š3.17 mU/L) was noticed in 29 of 71 (40.85%) hypothyroid PSIS patients but not in the 24 hypothyroid SS patients. The TSH levels in the hypothyroid PSIS patients were significantly higher in comparison with the euthyroid PSIS patients (5.42 ±â€Š3.67 vs 3.66 ±â€Š1.50 mU/L). Thyroid hormone replacement significantly reduced the TSH levels in the PSIS patients with elevated TSH levels from 7.24 ±â€Š0.98 to 1.67 ±â€Š1.51 mU/L (P < .05). The logistic regression analysis suggested that TSH level was not significantly associated with pituitary stalk status and height of the anterior pituitary gland.PSIS is a newly recognized cause of central hypothyroidism. The proportion and amplitude of TSH elevations are higher in PSIS than in other causes of central hypothyroidism.


Assuntos
Doenças da Hipófise/metabolismo , Tireotropina/metabolismo , Adulto , Feminino , Terapia de Reposição Hormonal , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Doenças da Hipófise/diagnóstico por imagem , Doenças da Hipófise/tratamento farmacológico , Doenças da Hipófise/epidemiologia , Hipófise/diagnóstico por imagem , Hipófise/efeitos dos fármacos , Hipófise/metabolismo , Prevalência , Estudos Retrospectivos , Tireotropina/administração & dosagem , Adulto Jovem
4.
Endocr J ; 65(3): 269-279, 2018 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-29279458

RESUMO

Primary macronodular adrenal hyperplasia (PMAH), also known in the past as bilateral macronodular adrenalhyperplasia or adrenocorticotropin (ACTH)-independent macronodular adrenal hyperplasia, is a rare type of Cushing's syndrome (CS) and is associated with bilateralenlargement of the adrenal glands. It accounts for <1% of all endogenous cases of CS. In order toidentify the pathogenic mutations in the causative gene of (AIMAH pedigrees, Whole-genome sequencing of three patients in family I was used to retrieve candidate causative genes. Meanwhile, the causative gene was identified by Sanger sequencing from the two pedigrees. Sequencing of ARMC5 exons of three patients was carried out to identify somatic mutations. Moreover, haploid clone of one tumor DNA sample was conducted. ARMC5 was the causative gene of two pedigrees confirmed by whole-genome sequencing (WGA) and Sanger sequencing. The variant sites of the two families were c.C943T (p.R315W) and c.C1960T (p.R654X), respectively. Autosomal dominant inheritance of AIMAH was confirmed by genotypes of one family member. Several somatic mutations were discovered in tumor DNA samples. In addition, haploid clone of tumor DNA was confirmed by germline mutation and somaticmutation, which suggested the pathogenic mechanism of "two-hit-model." ARMC5 was the causative gene of AIMAH pedigrees. This AIMAH in this study presented autosomal dominant inheritance, fitting to Mendelian inheritance law. However, the pathogenic mode of this disease showed as compound heterozygote.


Assuntos
Glândulas Suprarrenais/diagnóstico por imagem , Síndrome de Cushing/genética , Proteínas Supressoras de Tumor/genética , Adulto , Idoso , Proteínas do Domínio Armadillo , Síndrome de Cushing/diagnóstico por imagem , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Linhagem , Tomografia Computadorizada por Raios X , Sequenciamento Completo do Genoma
5.
Chin Med J (Engl) ; 130(7): 791-797, 2017 Apr 05.
Artigo em Inglês | MEDLINE | ID: mdl-28345542

RESUMO

BACKGROUND: Several previous studies have shown that snoring is associated with glucose metabolism and the development of diabetes, but rare study has shown the association between snoring frequency and prediabetes, particularly in China. We hypothesized that individuals who snore might have a higher risk of prediabetes. This study aimed to investigate the association between self-reported snoring and prediabetes in a Chinese population. METHODS: A cross-sectional study was performed in three large communities of Beijing from December 2011 to August 2012 by recruiting individuals aged ≥40 years old. All participants were requested to complete a detailed questionnaire and undergo anthropometric measurements. A 75 g oral glucose tolerance test was performed in individuals without diabetes. Blood samples of all participants were collected; blood glucose and blood fat levels were measured. Multivariate logistic regression models were built to assess the association between snoring frequency and prediabetes. RESULTS: A total of 13,592 participants (female: 66.56%; mean age: 56.8 ± 7.9 years; mean body mass index: 25.5 ± 3.4 kg/m2) were included in the final analysis. Of these, 30.9% were diagnosed with prediabetes, while 41.3% and 25.4% had occasional and habitual snoring, respectively. Habitual snoring was associated with an increased risk of prediabetes (odds ratio [OR]: 1.3, 95% confidence interval [CI]: 1.1-1.4, P< 0.001), after adjusting for diabetes and sleep-related confounders in the multivariable models. Habitual snoring was also associated with isolated impaired fasting glucose (IFG; OR: 1.3, 95% CI: 1.0-1.6; P< 0.001) and isolated impaired glucose tolerance (IGT; OR: 1.3, 95% CI: 1.2-1.5; P< 0.001), but not IFG + IGT (OR: 1.1, 95% CI: 0.9-1.4; P = 0.281). When stratified by total cholesterol (TC) levels, this association between habitual snoring and prediabetes was observed only in individuals with TC <5.6 mmol/L (OR: 1.4, 95% CI: 1.2-1.6; P< 0.001). CONCLUSIONS: Habitual snoring is associated with prediabetes, but only in individuals with TC <5.6 mmol/L. Further prospective studies are needed to confirm this finding.


Assuntos
Diabetes Mellitus/epidemiologia , Estado Pré-Diabético/epidemiologia , Ronco/epidemiologia , Adulto , Glicemia/metabolismo , Colesterol/sangue , Estudos Transversais , Diabetes Mellitus/sangue , Jejum/sangue , Feminino , Intolerância à Glucose/sangue , Intolerância à Glucose/epidemiologia , Intolerância à Glucose/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Estado Pré-Diabético/sangue , Estado Pré-Diabético/etiologia , Autorrelato , Ronco/sangue , Ronco/complicações
6.
Onco Targets Ther ; 9: 4887-99, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27540302

RESUMO

S100A8 has been increasingly recognized as a biomarker in multiple solid tumors and has played pivotal roles in hematological malignancies. S100A8 is potentially an indicator for poor survival in acute myeloid leukemia (AML) in retrospective studies. However, the mechanisms of S100A8 are diverse in cancers. In this study, we investigated the correlation of S100A8 at the transcription level with clinical parameters in 91 de novo AML patients and explored its mechanisms of chemoresistance to etoposide in vitro. The transcription level of S100A8 was significantly lower at initial and relapse stages of AML samples than at complete remission (P<0.001) and than in the control group (P=0.0078), while no significant difference could be found between initial and relapse stages (P=0.257). Patients with high transcription levels of S100A8 exhibited a shorter overall survival (P=0.0012). HL-60 cells transfected with S100A8 showed resistance to etoposide with a higher level IC50 value and lower apoptosis rate compared with HL-60 cells transfected with empty vector. Thirty-six genes were significantly downregulated and 12 genes were significantly upregulated in S100A8 overexpression group compared with control group in which 360 genes involved in apoptotic genes array were performed by real-time reverse transcriptase polymerase chain reaction. Among them, the caspase-3, Bcl-2, and Bax were verified by Western blot analysis which indicated that the role of S100A8 in resistance to chemotherapy was closely related with antiapoptosis. In conclusion, critical S100A8 provided useful clinical information in predicting the outcome of AML. The main mechanism of S100A8 which promoted chemoresistance was antiapoptosis.

7.
Exp Ther Med ; 12(1): 272-278, 2016 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-27347049

RESUMO

Angiotensin II type 1 receptor (AT1R) blockers (ARBs) have been shown to reduce the incidence of type 2 diabetes mellitus; however, the underlying molecular mechanism is unknown. Peroxisome proliferator-activated receptor γ (PPARγ) is the central regulator of insulin and glucose metabolism, which improves insulin sensitivity. Whether candesartan cilexetil, as a prodrug of the AT1R blocker candesartan, has PPARγ-activating properties remains to be elucidated. The aim of the present study was to investigate the effects of oral administration of candesartan cilexetil on glucose tolerance and the actions of PPARγ on liver and adipose tissue in the insulin-resistant obese rat induced by high-fat diet. Animals treated with candesartan cilexetil showed an improved glucose tolerance after oral glucose challenge. Whole-body insulin sensitivity was evaluated using the hyperinsulinemic-euglycemic clamp technique. During high-fat feeding in high-fat diet (HF) rats, the glucose infusion rate (GIR) was 52.3% lower than that in normal chow (NC) rats. However, the GIR was significantly enhanced following candesartan cilexetil treatment. Angiotensin II receptor antagonism also resulted in significant increases in PPARγ protein expression in adipose and liver tissue. These results indicate that PPARγ activation by candesartan cilexetil may provide novel therapeutic options in the treatment of patients with metabolic syndrome.

8.
Chin Med J (Engl) ; 129(10): 1147-53, 2016 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-27174321

RESUMO

BACKGROUND: Prolonged gonadal hormone deficiency in patients with idiopathic hypogonadotropic hypogonadism (IHH) may produce adverse effects on the endocrine homeostasis and metabolism. This study aimed to compare basal serum adrenocorticotropic hormone (ACTH) and cortisol levels between male IHH patients and healthy controls. Moreover, this study compared the basal hypothalamic-pituitary-adrenal (HPA) axis in patients with and without nonalcoholic fatty liver disease (NAFLD), and also evaluated the relationship between basal HPA axis and NAFLD in male IHH patients. METHODS: This was a retrospective case-control study involving 75 Chinese male IHH patients (mean age 21.4 ± 3.8 years, range 17-30 years) and 135 healthy controls after matching for gender and age. All subjects underwent physical examination and blood testing for serum testosterone, luteinizing hormone, follicle-stimulating hormone, ACTH, and cortisol and biochemical tests. RESULTS: Higher basal serum ACTH levels (8.25 ± 3.78 pmol/L vs. 6.97 ± 2.81 pmol/L) and lower cortisol levels (366.70 ± 142.48 nmol/L vs. 452.82 ± 141.53 nmol/L) were observed in male IHH patients than healthy subjects (all p<0.05). IHH patients also showed higher metabolism parameters and higher prevalence rate of NAFLD (34.9% vs. 4.4%) than the controls (all P < 0.05). Basal serum ACTH (9.91 ± 4.98 pmol/L vs. 7.60 ± 2.96 pmol/L) and dehydroepiandrosterone sulfate (2123.7 ± 925.8 µg/L vs. 1417.1 ± 498.4 µg/L) levels were significantly higher in IHH patients with NAFLD than those without NAFLD (all P < 0.05). We also found that basal serum ACTH levels were positively correlated with NAFLD (r = 0.289,p<0.05) and triglyceride levels (r = 0.268, P< 0.05) in male IHH patients. Furthermore, NAFLD was independently associated with ACTH levels in male IHH patients by multiple linear regression analysis. CONCLUSIONS: The male IHH patients showed higher basal serum ACTH levels and lower cortisol levels than matched healthy controls. NAFLD was an independent associated factor for ACTH levels in male IHH patients. These preliminary findings provided evidence of the relationship between basal serum ACTH and NAFLD in male IHH patients.


Assuntos
Hormônio Adrenocorticotrópico/sangue , Hidrocortisona/sangue , Hipogonadismo/sangue , Hepatopatia Gordurosa não Alcoólica/sangue , Adolescente , Adulto , Humanos , Modelos Lineares , Masculino , Hepatopatia Gordurosa não Alcoólica/tratamento farmacológico , Estudos Retrospectivos , Adulto Jovem
9.
Int J Environ Res Public Health ; 11(5): 5497-509, 2014 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-24852600

RESUMO

White blood cell (WBC) count has been associated with diabetic risk, but whether the correlation is independent of other risk factors has hardly been studied. Moreover, very few such studies with large sample sizes have been conducted in Chinese. Therefore, we investigated the relationship between WBC count and glucose metabolism in China. We also examined the relevant variables of WBC count. A total of 9,697 subjects (mean age, 58.0 ± 9.1 years) were recruited. The subjects were classified into four groups, including subjects with normal glucose tolerance, isolated impaired fasting glucose, impaired glucose tolerance and type 2 diabetes mellitus (T2DM). We found that WBC count increased as glucose metabolism disorders exacerbated. WBC count was also positively correlated with waist hip ratio, body mass index, smoking, triglycerides, glycosylated haemoglobin A1c (HbA1c) and 2-h postprandial glucose. In addition, high density lipoprotein and the female gender were inversely correlated with WBC levels. In patients with previously diagnosed T2DM, the course of T2DM was not correlated with WBC count. Our findings indicate that elevated WBC count is independently associated with worsening of glucose metabolism in middle-aged and elderly Chinese. In addition, loss of weight, smoking cessation, lipid-modifying therapies, and control of postprandial plasma glucose and HbA1c may ameliorate the chronic low-grade inflammation.


Assuntos
Glicemia/metabolismo , Transtornos do Metabolismo de Glucose/diagnóstico , Transtornos do Metabolismo de Glucose/epidemiologia , Contagem de Leucócitos , Fatores Etários , Idoso , China/epidemiologia , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Obesidade/diagnóstico , Obesidade/epidemiologia , Fatores de Risco
10.
Pediatr Cardiol ; 35(7): 1191-7, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24859168

RESUMO

The current study aimed to assess left ventricular (LV) longitudinal systolic strains in children with KD using two-dimensional speckle-tracking imaging and to analyze the relationship of LV myocardial deformation to coronary lesions and laboratory markers. The study enrolled 101 children with acute KD. An additional 50 age- and gender-matched normal children were enrolled as control subjects. During different phases of KD, echocardiograms were recorded for 61 children. Two-dimensional strain analysis software was used to track myocardial movement and obtain the strain from each LV segment. The LV longitudinal systolic strain decreased significantly in children with acute KD but increased immediately after intravenous immunoglobulin therapy. At 6-8 weeks after the onset of KD, all LV strains had recovered to normal. The LV systolic strain was not associated with coronary dilation in either acute or convalescent KD. In acute KD, aspartate transaminase, alanine transaminase, erythrocyte sedimentation rate, C-reactive protein (CRP), and hemoglobin (Hb) were found to be associated with coronary dilation, whereas LV systolic strains were found to be correlated with elevated CRP and decreased Hb. Speckle-tracking imaging of LV systolic strain was simple and accurate in evaluating LV function during different phases of KD. No association between LV dysfunction and coronary dilation was observed, but a relationship with CRP and Hb was found. Further studies are recommended to validate the current study results and explore further how these findings can improve clinical practice.


Assuntos
Ecocardiografia Doppler em Cores/métodos , Síndrome de Linfonodos Mucocutâneos/complicações , Volume Sistólico/fisiologia , Disfunção Ventricular Esquerda/fisiopatologia , Função Ventricular Esquerda/fisiologia , Pré-Escolar , Feminino , Seguimentos , Ventrículos do Coração/diagnóstico por imagem , Ventrículos do Coração/fisiopatologia , Humanos , Interpretação de Imagem Assistida por Computador , Masculino , Síndrome de Linfonodos Mucocutâneos/fisiopatologia , Estudos Retrospectivos , Sístole , Disfunção Ventricular Esquerda/diagnóstico por imagem , Disfunção Ventricular Esquerda/etiologia
11.
Pediatr Res ; 75(3): 453-8, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24336465

RESUMO

BACKGROUND: We investigated vascular endothelial dysfunction by sonographic features of flow-mediated dilation (FMD) and circulating endothelial microparticles (EMPs) in Kawasaki disease (KD). METHODS: Twenty-eight patients with KD were prospectively grouped according to stage of disease: acute, subacute, and convalescent. In addition, 28 healthy children and 28 febrile children were selected as controls. And cases in the convalescent phase were divided into two subgroups: coronary artery lesion (CAL) and no coronary lesion (NCAL). CD144(+)/CD42b(-), CD62E(+), and CD105(+) EMPs were measured by flow cytometry; FMD was obtained by sonography. RESULTS: There were significant differences in FMD among the five groups. When compared with healthy controls, there were significantly greater numbers of CD144(+)/CD42b(-), CD62E(+), and CD105(+) EMPs and a higher proportion of CD62E(+) EMPs in KD patients. The proportions and numbers of CD144(+)/CD42b(-), CD62E(+), and CD105(+) EMPs in KD patients were not statistically different than in febrile controls. There were no significant differences in FMD and EMPs between the CAL and NCAL subgroups. There were significantly negative correlations between the values of FMD and EMPs in the three phases of KD. CONCLUSION: The increased levels of EMPs have significant correlation with decreased values of FMD, both of which may reflect endothelial dysfunction in child KD.


Assuntos
Biomarcadores/sangue , Artéria Braquial/fisiologia , Micropartículas Derivadas de Células/metabolismo , Endotélio Vascular/fisiopatologia , Síndrome de Linfonodos Mucocutâneos/diagnóstico , Vasodilatação/fisiologia , Estudos de Casos e Controles , Criança , Pré-Escolar , China , Ecocardiografia , Feminino , Citometria de Fluxo , Humanos , Lactente , Masculino , Estudos Prospectivos , Fluxo Sanguíneo Regional/fisiologia , Estatísticas não Paramétricas , Ultrassonografia
12.
BMC Public Health ; 13: 294, 2013 Apr 03.
Artigo em Inglês | MEDLINE | ID: mdl-23552170

RESUMO

BACKGROUND: Serum γ-glutamyltransferase (GGT) and uric acid (UA) levels are elevated in patients with diabetes or cardiovascular disease. Prediabetes, characterized by impaired glucose tolerance, is an important risk factor for overt diabetes as well as cardiovascular disease. Therefore, the aim of this study was to explore the relationship between GGT, UA and prediabetes in a Chinese population, and provide a scientific basis for the early prevention and treatment of diabetes. METHODS: We performed a cross-sectional population-based study in a cohort of 2694 subjects (1211 men and 1483 women, aged 35-86 years). Questionnaires and physical examinations were performed using standardized procedures. Fasting blood was collected to measure glucose and other biochemical parameters. The subjects were divided into two groups with either normal fasting glucose (NFG) or impaired fasting glucose (IFG), according to international diagnostic criteria. Logistic regression analysis was performed to estimate odds ratios (OR) and 95% confidence intervals. RESULTS: Compared with the NFG group, the IFG group had significantly higher blood pressure but lower high-density lipoprotein-cholesterol in women. Body mass index, waist circumference, triglyceride, glucose, GGT, and UA levels were significantly higher in males and females in the IFG group than those in the NFG group. Logistic regression analysis revealed that the OR for prediabetes increased with increasing serum GGT quartiles and UA quartiles. GGT and UA were positively associated with prediabetes in men and women, independent of age, ethnicity, smoking, alcohol consumption, blood pressure, physical labor, and other confounders. CONCLUSIONS: We found that serum GGT and UA levels were positively associated with prediabetes in men and women living in areas inhabited by Chinese ethnic minorities. As elevated GGT and UA levels were associated with significantly increased risk of prediabetes, they may be used as sensitive biological markers of prediabetes.


Assuntos
Glicemia/metabolismo , Intolerância à Glucose/sangue , Estado Pré-Diabético/sangue , Ácido Úrico/sangue , gama-Glutamiltransferase/sangue , Adulto , Idoso , Biomarcadores/sangue , Pressão Sanguínea , Índice de Massa Corporal , China/epidemiologia , Estudos de Coortes , Estudos Transversais , Jejum , Feminino , Humanos , Hipertensão/sangue , Hipertensão/epidemiologia , Lipídeos/sangue , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Estado Pré-Diabético/epidemiologia , Prevalência , Circunferência da Cintura
13.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 29(3): 249-54, 2012 Jun.
Artigo em Chinês | MEDLINE | ID: mdl-22678781

RESUMO

OBJECTIVE: To detect genetic causes of Duchenne muscular dystrophy (DMD). METHODS: Next-generation sequencing was used to detect 6 DMD patients in whom no exonic deletions were detected by multiplex PCR. Sanger sequencing and multiplex ligation-dependent probe amplification were used to confirm the results. RESULTS: One case was found to have deletions of exons 10 and 11, 1 had exons 16 and 17 duplication, 4 cases have 8 point mutations including c.2776C>T, c.5475delA, c.6391_6392delCA, IVS64+1G>A, c.2645A>G, c.5244G>A, c.7728T>C, c.8729A>T, c.8734A>G and c.8810G>A. The former 4 mutations are suspicious pathogenicity, the other 6 mutations are polymorphisms in population. Three novel mutations (IVS64+1G>A, c.6391_6392delCA (p.Q2131NfsX3) and p.Q926X (CAG>TAG) were not reported before. CONCLUSION: Next-generation sequencing technology is a useful tool for the detection of deletion, duplication and point mutation, which is valuable for clinical application.


Assuntos
Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/genética , Análise de Sequência de DNA/métodos , Adolescente , Sequência de Bases , Criança , Variação Genética , Humanos , Lactente , Dados de Sequência Molecular
14.
Eur J Pediatr ; 171(3): 571-8, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22057683

RESUMO

UNLABELLED: The current recommended therapy for Kawasaki disease (KD) is the combination of intravenous immunoglobulin (IVIG) and aspirin. However, the role of corticosteroid therapy in KD remains controversial. Using meta-analysis, this study aimed to investigate the efficacy of corticosteroid therapy in KD by comparing it with standard IVIG and aspirin therapy. We included all related randomized and quasi-randomized controlled trials by searching Medline, the Cochrane Central Register of Controlled Trials, EMBASE, Pub Med, Chinese BioMedical Literature Database, China National Knowledge Infrastructure, and the Japanese database (Japan Science and Technology) as well as hand searches of selected references. Data collection and meta-analysis were performed to evaluate the effect of corticosteroids. Our search yielded 11 studies; 7 of which evaluated the effect of corticosteroid for primary therapy in KD, and 4 investigated the effect of corticosteroid therapy in IVIG-resistant patients. Meta-analysis of these studies revealed a significant reduction in the rates of initial treatment failure among patients who received corticosteroid therapy in combination with IVIG compared to IVIG alone (odds ratio (OR) = 0.50; 95% CI, 0.32~0.79; p = 0.003). Furthermore, the use of corticosteroids reduced the duration of fever and the time required for C-reactive protein to return to normal. Our data did not show any significant increase in the incidence of coronary artery lesions or coronary aneurysms (OR = 0.67; 95% CI, 0.35~1.28; p = 0.23) in the corticosteroid group. CONCLUSION: Corticosteroid combined with IVIG in primary treatment or as treatment of IVIG-resistant patients improved clinical course without increasing coronary artery lesions in children with acute KD.


Assuntos
Corticosteroides/uso terapêutico , Anti-Inflamatórios/uso terapêutico , Síndrome de Linfonodos Mucocutâneos/tratamento farmacológico , Anti-Inflamatórios não Esteroides/uso terapêutico , Aspirina/uso terapêutico , Criança , Pré-Escolar , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Resultado do Tratamento
15.
BMC Public Health ; 11: 794, 2011 Oct 12.
Artigo em Inglês | MEDLINE | ID: mdl-21988955

RESUMO

BACKGROUND: Prehypertension and prediabetes are major risk factors of cardiovascular disease, and their combined presence may result in more serious cardiovascular outcomes than expected with either prehypertension or prediabetes alone. The aim of the present study was to evaluate the prevalence of coexisting prehypertension and prediabetes, and the associated risk profiles in a Chinese population. METHODS: A cross-sectional survey in a representative sample of 3,595 men and 4,593 women aged 18 years and older was performed between 2008 and 2010. Prehypertension and prediabetes were diagnosed using the guidelines from the Seventh Report of the Joint National Committee on prevention, detection, and treatment of high blood pressure and American Diabetes Association, respectively. Prehypertension was defined as a systolic blood pressure of 120-139 mmHg and/or diastolic blood pressure of 80-89 mmHg, and prediabetes was defined as a fasting blood glucose of 5.6-6.9 mmol/L. RESULTS: The prevalence of coexisting prehypertension and prediabetes was 11.0%. Men had a higher prevalence of coexisting prehypertension and prediabetes than women (14.2% vs. 8.4%; P < 0.0001). This prevalence increased with age and body mass index, and was the lowest among Mongolian-Chinese (5.1%). A multivariate analysis showed that γ-glutamyltransferase and uric acid were significantly and positively correlated with body mass index, waist circumference, blood pressure, triglycerides, and total cholesterol, and negatively correlated with high density lipoprotein cholesterol in subjects with prehypertension and prediabetes. CONCLUSIONS: There is a large proportion of Chinese adults with coexisting prehypertension and prediabetes. Thus, there is a need for more efforts that implement public health programs that target the earlier stages of hypertension and diabetes.


Assuntos
Estado Pré-Diabético/epidemiologia , Pré-Hipertensão/epidemiologia , Adolescente , Adulto , Antropometria , Glicemia/análise , Pressão Sanguínea/fisiologia , Doenças Cardiovasculares/epidemiologia , China/epidemiologia , Colesterol/sangue , Análise por Conglomerados , Comorbidade , Estudos Transversais , Feminino , Humanos , Testes de Função Hepática , Masculino , Pessoa de Meia-Idade , Estado Pré-Diabético/sangue , Pré-Hipertensão/sangue , Prevalência , Fatores de Risco , População Rural/estatística & dados numéricos , Fatores Socioeconômicos , Inquéritos e Questionários , População Urbana/estatística & dados numéricos , Ácido Úrico/sangue , Adulto Jovem
16.
Zhonghua Er Ke Za Zhi ; 49(4): 316-9, 2011 Apr.
Artigo em Chinês | MEDLINE | ID: mdl-21624212

RESUMO

OBJECTIVE: To detect 22q11 microdeletion in the children and fetuses affected by congenital heart defects. METHOD: MLPA P250 kit was used to detect 22q11 microdeletion in 100 cases of sporadic congenital heart defects including 40 fetuses and 60 patients diagnosed by ultrasound. RESULT: Two cases from the fetuses and 1 case from the patients were found to have 22q11 microdeletion. CONCLUSION: Three cases had 22q11 microdeletion in the congenital heart defects.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 22 , Cardiopatias Congênitas/genética , Técnicas de Amplificação de Ácido Nucleico/métodos , Criança , Pré-Escolar , Feminino , Cardiopatias Congênitas/diagnóstico , Humanos , Lactente , Masculino
17.
Zhonghua Yi Xue Za Zhi ; 90(26): 1836-40, 2010 Jul 13.
Artigo em Chinês | MEDLINE | ID: mdl-20979831

RESUMO

OBJECTIVE: To observe the effects of candesartan on the expressions of JAK2 and protein tyrosine phosphatase-1B (PTP-1B) in adipose tissue of obese rats induced by high-fat diet. METHODS: A total of 45 male Wistar rats were randomly assigned into 3 groups of normal control (NC group), high fat diet (HF group) and high-fat diet with daily Candesartan treatment (FC group). The rats of FC group were treated with orally taken Candesartan at a dose of 8 mg/kg body weight per day. Blood chemistry and insulin were assayed at Week 16. Euglycemic-hyperinsulinemic clamp technique was performed to evaluate the peripheral insulin resistance. The expressions of JAK2 and PTP-1B in adipose tissue were confirmed by both reverse transcription-polymerase chain reaction (RT-PCR) and Western blot. RESULTS: (1) The body weight and peri-renal fat weight of HF group were significantly higher than those of FC and NC groups (all P < 0.05). (2) total cholesterol (TC) and fasting insulin (FINS) of FC group were lower than those of HF group [TC, FC group: (1.37 ± 0.39) mmol/L vs HF group: (2.01 ± 0.26) mmol/L, P < 0.05; FINS, FC group: (3.03 ± 1.37) mU/L vs HF group: (4.76 ± 2.75) mU/L, P < 0.05] while insulin sensitive index (ISI) and angiotensin II (AngII) of FC group were much higher than those of HF group [ISI, FC group: (58 ± 12) × 10(-3) vs HF group: (29 ± 9) × 10(-3), P < 0.05; AngII, FC group: (61 ± 11) mmol/L vs HF group: (52 ± 10) mmol/L, P < 0.05]. (3) The steady-state glucose infusion rate (SSGIR) of FC group was significantly higher than that of HF group [FC group: (22 ± 5) mg×kg(-1)×min(-1) vs HF group:(14 ± 4) mg×kg(-1)min(-1), P < 0.05]. (4) Both the mRNA and protein expressions of JAK2 and PTP-1B in FC group were significantly lower than those in HF group respectively. CONCLUSION: There are insulin resistance and a high expression of JAK2 and PTP-1B in adipose tissue of obese rats induced by high-fat diet. And both are related with the elevated AngII level. Candesartan can reverse these effects.


Assuntos
Tecido Adiposo/efeitos dos fármacos , Tecido Adiposo/metabolismo , Benzimidazóis/farmacologia , Janus Quinase 2/metabolismo , Obesidade/metabolismo , Proteína Tirosina Fosfatase não Receptora Tipo 1/metabolismo , Tetrazóis/farmacologia , Animais , Resistência à Insulina , Masculino , Ratos , Ratos Wistar
18.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 27(5): 571-5, 2010 Oct.
Artigo em Chinês | MEDLINE | ID: mdl-20931540

RESUMO

OBJECTIVE: To establish an assay for screening chromosome 22q11 microdeletion efficiently, and apply it for detecting del22q11 in patients with non-syndromic congenital heart defects (CHD). METHODS: Seventy nine patients with non-syndromic CHD and 84 normal controls were genotyped for 8 short tandem repeat (STR) markers located in 22q11 region, by using quantitative fluorescence polymerase chain reaction (QF-PCR). RESULTS: The average heterozygosity of the STR markers in patients and controls was 0.76 and 0.79, respectively. One patient with Tetralogy of Fallot (TOF) from the 79 CHD cases (1.3%) was found to have a deletion within chromosome 22q11.2, which was confirmed by multiplex ligation-dependent probe amplification (MLPA). CONCLUSION: The QF-PCR assay developed in this study was a reliable and an efficient alterative approach to screen for 22q11 microdeletion in clinical diagnosis and genetic counseling.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 22/genética , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/genética , Reação em Cadeia da Polimerase/métodos , Estudos de Casos e Controles , Fluorescência , Humanos , Repetições de Microssatélites , Reação em Cadeia da Polimerase/instrumentação
19.
Clin Chim Acta ; 411(21-22): 1741-5, 2010 Nov 11.
Artigo em Inglês | MEDLINE | ID: mdl-20659440

RESUMO

BACKGROUND: Previous studies have identified that mutations in a few genes, including T-BOX5, NKX2-5, EVC and GATA4, are associated with atrial septal defect (ASD). METHODS: A family of three generations with 4 members who were affected with ASD was investigated. To exclude the presence of any sub-microscopic chromosomal imbalance, high-resolution 1M array-based comparative genomic hybridization (aCGH) was performed. SNaPShot was used to certify the specificity of the finding mutation in the other family members. The coding region of GATA4 and NKX2-5 genes was screened by sequencing in another 30 cases including 10 cases of ventricular septal defect (VSD), 10 cases of atrial septal defect (ASD), 8 cases of VSD combined with ASD and 2 cases of atrioventricular septal defects (AVSD). RESULTS: No pathogenic copy number variant was detected by aCGH in the four affected family members with ASD. A novel non-synonymous variant, c.839C>T (T280M) in GATA4, was identified and segregated with all the ASD patients within this Chinese family. Such mutation was absent in other family members or present among sporadic CHD patients. In addition, we identified a non-synonymous variant in the NKX2-5 gene (P257A) associated with one congenital heart disease patient with VSD. Both mutations were not identified among healthy controls. CONCLUSION: T280M mutation of GATA4 is suggested to be associated with ASD in this Chinese family.


Assuntos
Fator de Transcrição GATA4/genética , Comunicação Interatrial/genética , Mutação , Adulto , Grupo com Ancestrais do Continente Asiático , Estudos de Casos e Controles , Hibridização Genômica Comparativa , Família , Comunicação Interventricular/genética , Proteína Homeobox Nkx-2.5 , Proteínas de Homeodomínio/genética , Humanos , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Fatores de Transcrição/genética
20.
Zhonghua Yi Xue Za Zhi ; 88(38): 2695-9, 2008 Oct 21.
Artigo em Chinês | MEDLINE | ID: mdl-19080690

RESUMO

OBJECTIVE: To investigate the effects of candesartan, an angiotension II type I receptor antagonist, in improvement of insulin resistance (IR) induced by high-fat diet and the possible mechanism thereof. METHODS: 45 male Wistar rats were randomly divided into 3 groups: normal chow group (NC, n = 15) fed with normal diet, high fat diet group (HF, n = 15) fed with high fat diet, and high-fat diet with daily candesartan treatment group (HF + C, n = 15) fed with high fat diet and given orally with candesartan 8 mg/kg per day. Body weight was measured regularly. Four weeks later, oral glucose tolerance test (OGTT) and euglycemic-hyperinsulinemic clamp technique were performed to estimate the insulin sensitivity. After 12 h fasting blood samples were collected from the abdominal aorta to test the contents of blood glucose, and serum triglyceride (TG), total cholesterol (TC), LDL, HDL, and free fatty acid (FFA). Radioimmunoassay was used to detect the serum insulin. Viscera were taken out. Immunohistochemistry was used to examine the expression of peroxisome proliferation activated receptor (PPAR)-gamma in hepatic and adipose tissues. RESULTS: The body weight 16 weeks later of the HF group was significantly higher than that of the HF + C group (P < 0.01). The liver weight and epididymal and peri-renal fat weights of the HF group were all significantly higher than those of the HF + C group and NC group (all P < 0.01). There was no significant difference in fasting blood sugar among these 3 groups (P > 0.05). The glucose levels 2 h after OGTT in the HF + C group was (6.3 +/- 0.5) mmol/L, significantly lower than that of the HF group [(7.3 +/- 1.2) mmol/L, P < 0.01]. The glucose infusion rate (GIR) of the HF + C group was (22 +/- 5) mmol/L, significantly higher than that of the HF group [(14 +/- 4) mmol/L, P < 0.01]. The PPARgamma expression levels in liver and adipose tissue of the HF + C group were up-regulated significantly compared with those of the HF group. CONCLUSION: Candesartan may improve insulin resistance through promoting the expression of PPARgamma in liver and adipose tissue.


Assuntos
Bloqueadores do Receptor Tipo 1 de Angiotensina II/farmacologia , Benzimidazóis/farmacologia , Gorduras na Dieta , Resistência à Insulina , Insulina/metabolismo , Tetrazóis/farmacologia , Animais , Masculino , Ratos , Ratos Wistar
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