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1.
Zhongguo Zhong Yao Za Zhi ; 46(11): 2710-2717, 2021 Jun.
Artigo em Zh | MEDLINE | ID: mdl-34296567

RESUMO

Qixuehe Capsules is a compound Chinese patent medicine developed for treating the disorder of Qi and blood(a common etiology of gynecological disease), which has remarkable effects on smoothing liver and regulating Qi, activating blood circulation, and relieving pain. However, due to its complex prescriptions(15 herbs) and multiple effects, the quality control of Qixuehe Capsules has always been a bottleneck problem limiting its sustainable development. Therefore, this study adopted the traditional Chinese medicine Q-markers quantitative identification system established previously by our research group based on the combination of analytic hierarchy process and entropy weight methods. With the different effects of Qixuehe Capsules as the entry point, the comprehensive scores of chemical ingre-dients in Qixuehe Capsules under the items of effectiveness(smoothing liver and regulating qi, activating blood circulation, and relieving pain), testability and specificity were calculated and integrated, respectively. Subsequently, through the analysis of compatibility relationship of Qixuehe Capsules, 15 active ingredients with high comprehensive scores were found to be the top Q-mar-kers of Qixuehe Capsules, including ferulic acid, quercetin, caffeic acid, kaempferol, rutin, Z-ligustilide, senkyunolide Ⅰ, vanillic acid, protocatechuic acid, chlorogenic acid, rosmarinic acid, senkyunolide A, gallic acid, tetrahydropalmatine and eugenol. Collectively, this study not only provided scientific evidence for further research on the improvement and standardization of quality standards of Qixuehe Capsules but also provided methodological references for the quantitative identification of Q-markers of multi-effect traditional Chinese medicine formulae.


Assuntos
Medicamentos de Ervas Chinesas , Processo de Hierarquia Analítica , Cápsulas , Entropia , Medicina Tradicional Chinesa
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.
J Cell Mol Med ; 21(12): 3626-3632, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28707430

RESUMO

Pituitary stalk interruption syndrome (PSIS) is a rare type of hypopituitarism manifesting various degrees of pituitary hormone deficiency. Although mutations have been identified in some familial cases, the underpinning mechanisms of sporadic patients with PSIS who are in a vast majority remain elusive, necessitating a comprehensive study using systemic approaches. We postulate that other genetic mechanisms may be responsible for the sporadic PSIS. To test this hypothesis, we conducted a study in 24 patients with PSIS of Han Chinese with no family history using whole-exome sequencing (WES) and bioinformatic analysis. We identified a group of heterozygous mutations in 92% (22 of 24) of the patients, and these genes are mostly associated with Notch, Shh, Wnt signalling pathways. Importantly, 83% (20 of 24) of the patients had more than one mutation in those pathways suggesting synergy of compound mutations underpin the pathogenesis of sporadic PSIS.


Assuntos
Genoma Humano , Proteínas Hedgehog/genética , Hipopituitarismo/genética , Mutação , Hormônios Hipofisários/genética , Receptores Notch/genética , Proteínas Wnt/genética , Adolescente , Adulto , Povo Asiático , Criança , Biologia Computacional , Feminino , Expressão Gênica , Proteínas Hedgehog/metabolismo , Humanos , Hipopituitarismo/etnologia , Hipopituitarismo/metabolismo , Hipopituitarismo/patologia , Masculino , Hipófise/anormalidades , Hipófise/metabolismo , Hormônios Hipofisários/deficiência , Receptores Notch/metabolismo , Transdução de Sinais , Síndrome , Sequenciamento Completo do Genoma , Proteínas Wnt/metabolismo
4.
BMC Endocr Disord ; 16(1): 20, 2016 May 03.
Artigo em Inglês | MEDLINE | ID: mdl-27142369

RESUMO

BACKGROUND: Type B insulin resistance is a rare autoimmune disease characterized by the presence of autoantibodies against the insulin receptor. Helicobacter pylori (H pylori) infection may play a causative role in the autoimmune diseases. CASE PRESENTATION: Here, we present a rare case of a 48-year old female patient, who had type B insulin resistance with systemic scleroderma and was successfully treated with multiple immune suppressants after eradication of Helicobacter pylori infection. CONCLUSION: The present case suggests H pylori infection-related pathological mechanism may contribute to type B insulin resistance syndrome and autoimmune disorders. Treatment toward H pylori may be helpful to relieve syndrome of type B insulin resistance for H pylori positive patients.


Assuntos
Doenças Autoimunes/tratamento farmacológico , Infecções por Helicobacter/tratamento farmacológico , Imunossupressores/uso terapêutico , Resistência à Insulina/imunologia , Receptor de Insulina/imunologia , Antibacterianos/uso terapêutico , Doenças Autoimunes/complicações , Doenças Autoimunes/metabolismo , Glicemia , Feminino , Infecções por Helicobacter/complicações , Helicobacter pylori , Humanos , Pessoa de Meia-Idade
5.
Clin Endocrinol (Oxf) ; 79(1): 86-92, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23199197

RESUMO

OBJECTIVES: Pituitary stalk interruption syndrome (PSIS) is rare and its clinical features and pathogenesis are poorly understood. This study characterized the clinical and genetic features of PSIS in Chinese patients. DESIGN AND PATIENTS: Clinical data of 58 patients with PSIS and 46 patients with GH deficiency but a normal pituitary stalk (NPS) were retrospectively analysed. HESX1, LHX4, OTX2 and SOX3 polymorphisms were screened in 33 PSIS patients, and GH1 and GHRHR in 4 NPS patients. RESULTS: Deficiency of GH was 100% in both PSIS and NPS groups. Other deficiency rates for PSIS and NPS groups were as follows: ACTH, 77·6% and 23·9%; TSH, 43·1% and 10·9%; LH/FSH, 94·2% and 47·4%; and combined pituitary hormone, 93·1% and 41·3% respectively. In PSIS and NPS patients, the percentages of anterior pituitary hypoplasia were 98·3% and 54·3%, pituitary stalk abnormality were 100% and 0%, and ectopic neurohypophysis were 91·4% and 0%. A novel heterozygous sequence variant (c.142A>T, p.T48S) was found in HESX1 in one PSIS patient, 3 polymorphisms (c.63T>C, p.G21G; c.450C>T, p.N150N; and c.983A>G, p.N328S) in LHX4 in 7, 1 and 31 PSIS patients, respectively, and a hemizygous polymorphism (c.157G>C, p.V53L) in SOX3 in one PSIS patient. No OTX2 abnormality was detected in PSIS patients, and no GH1 or GHRHR polymorphisms in NPS patients. CONCLUSIONS: Compared with NPS, PSIS patients had more severe anterior pituitary hormone deficiency, lower anterior pituitary hormone secretion and higher probability of abnormal pituitary morphology. HESX1, LHX4 and SOX3 polymorphisms may be associated with PSIS.


Assuntos
Predisposição Genética para Doença/genética , Doenças da Hipófise/genética , Hipófise/patologia , Polimorfismo Genético , Adolescente , Sequência de Aminoácidos , Povo Asiático/genética , Criança , China , Feminino , Frequência do Gene , Genótipo , Hormônio do Crescimento/deficiência , Hormônio do Crescimento/genética , Proteínas de Homeodomínio/genética , Humanos , Proteínas com Homeodomínio LIM/genética , Masculino , Dados de Sequência Molecular , Fatores de Transcrição Otx/genética , Doenças da Hipófise/etnologia , Receptores de Neuropeptídeos/genética , Receptores de Hormônios Reguladores de Hormônio Hipofisário/genética , Estudos Retrospectivos , Fatores de Transcrição SOXB1/genética , Homologia de Sequência de Aminoácidos , Síndrome , Fatores de Transcrição/genética , Adulto Jovem
6.
J Pediatr Endocrinol Metab ; 25(11-12): 1077-82, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23329752

RESUMO

Steroid 5α-reductase type 2 deficiency (5α-RD2) is a rare autosomal recessive inherited disorder caused by mutations in the SRD5A2 gene. Its clinical features and pathogenesis in Chinese patients are poorly understood. This study aimed to characterize the clinical features and genetically analyze the SRD5A2 gene in three Chinese 5α-RD2 patients. The patients were characterized by ambiguous genitalia and spontaneous virilization without breast development at puberty. Elevated post-human chorionic gonadotropin stimulation T/DHT ratios were useful indicators of 5α-RD2 (with ratios of 20.4, 20.1, and 26.6 in the three patients, respectively). Two compound heterozygous mutations in the SRD5A2 gene were identified: p.G203S/p.R246Q in patients 1 and 2 and p.G203S/c.655delT in patient 3. The father and the mother of patients 1 and\xa02 were carriers of p.R246Q and p.G203S, respectively. p.G203S appears to be common in Chinese 5α-RD2 patients. Early genetic analysis should be performed in suspected patients to improve prognosis.


Assuntos
3-Oxo-5-alfa-Esteroide 4-Desidrogenase/deficiência , 3-Oxo-5-alfa-Esteroide 4-Desidrogenase/genética , Proteínas de Membrana/deficiência , Proteínas de Membrana/genética , Mutação , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/enzimologia , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Adolescente , Povo Asiático/genética , Criança , Feminino , Genitália Feminina/anormalidades , Humanos , Prognóstico , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico , Virilismo/diagnóstico , Virilismo/enzimologia , Virilismo/genética
7.
Zhonghua Yi Xue Za Zhi ; 92(15): 1041-4, 2012 Apr 17.
Artigo em Zh | MEDLINE | ID: mdl-22781645

RESUMO

OBJECTIVE: To summarize the clinical efficacies and experiences of using rapid pore cranial drilling and external ventricular drainage (EVD) in the treatment of ventricular hemorrhage caused by thalamic hemorrhage. METHODS: Retrospective analysis was conducted for 401 patients at 5 hospitals from May 1983 to December 2010. They underwent EVD with an infusion of urokinase for intraventricular hemorrhage caused by thalamic hemorrhage. There were 212 males and 189 females with an age range of 19 - 78 years. RESULTS: After a 1-month therapy, the outcomes were cure 147/401 (36.7%), improvement 192/401 (47.9%) and others (death and against-advice discharge) 62/401 (15.4%). After 1-3-month treatment, their prognoses were evaluated by activity of daily living (ADL): ADLI 147/401, ADLII 82/401, ADLIII 76/401, ADLIV 19/401, ADLV 15/401, death 43/401 and against-advice discharge 19/401. During a follow-up period of 1 - 3 years, 274 patients showed the following outcomes: ADLI 122/243, ADLII 63/243, ADLIII 58/243 while 31 patients died from pulmonary infection. CONCLUSION: The procedure of EVD (including an infusion of urokinase) with rapid pore cranial drilling is preferred treatment for ventricular hemorrhage caused by thalamic hemorrhage.


Assuntos
Hemorragia Cerebral/cirurgia , Drenagem/métodos , Adulto , Idoso , Hemorragia Cerebral/patologia , Ventrículos Cerebrais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Tálamo/patologia , Resultado do Tratamento , Ativador de Plasminogênio Tipo Uroquinase/uso terapêutico , Adulto Jovem
8.
Eur J Pediatr ; 170(5): 671-3, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-21116648

RESUMO

An 18-year-old male patient had presented with diffuse hyperpigmentation after birth and with adrenal insufficiency syndrome since childhood. After puberty, no secondary sexual signs developed. Laboratory examination showed an extremely high concentration of serum triglycerides (9.14 mmol/L) and plasma adrenocorticotropic hormone (>275 pmol/L), however, a low concentration of plasma free cortisone (<25.1-67.6 nmol/L). Abdomen computed tomography detected atrophy of both adrenals glands.


Assuntos
Hiperpigmentação/etiologia , Puberdade Tardia/etiologia , Adolescente , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/tratamento farmacológico , Hiperplasia Suprarrenal Congênita/genética , Insuficiência Adrenal , Erros Inatos do Metabolismo dos Carboidratos/diagnóstico , Erros Inatos do Metabolismo dos Carboidratos/genética , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/tratamento farmacológico , Doenças Genéticas Ligadas ao Cromossomo X/genética , Glicerol Quinase/deficiência , Glicerol Quinase/genética , Humanos , Hipertrigliceridemia/etiologia , Hipoadrenocorticismo Familiar , Masculino
9.
Exp Ther Med ; 21(5): 468, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33767763

RESUMO

The objective of the present study was to investigate the effect of quercetin and evaluate its protective effect on articular cartilage in patients with osteoarthritis (OA), by intervening the p38 pathway. The target factors of quercetin protecting articular cartilage in patients with OA were predicted scientifically and analyzed to predict the possible pathways by using network pharmacology. A pathway predicted to be closely associated with osteoarthritis was chosen for experimental verification in in vitro cells. The optimal intervention drug concentrations were selected by the of Cell Cycle Kit-8 assay, osteoarthritis and inflammatory factors relevant to osteoarthritis, interleukin-1ß and tumor necrosis factor-α, were tested by of enzyme-linked immunosorbent assay, and the expression of relevant proteins and mRNA of the p38 signaling pathway was tested by reverse transcription-quantitative PCR and western blotting, following quercetin intervention. It was found that quercetin, at the concentration of 100 umol/l, can decrease inflammatory factors relevant to OA, inhibit the expression of p38, matrix metalloprotease 13 and ADAMTS in the pathway, and promote the expression of collagen Ⅱ. Therefore, it is postulated that quercetin can lower the expression of inflammatory factors in cartilage for the prevention and treatment of OA, and the expression level of relevant factors can be changed positively by blocking the p38 MAPK signaling pathway. Thus, quercetin can promote the repair of degenerative chondrocytes and protect articular chondrocytes.

10.
Artigo em Inglês | MEDLINE | ID: mdl-32190085

RESUMO

BACKGROUND: Qixuehe capsule (QXH), a Chinese patent medicine, has been demonstrated to be effective in the treatment of menstrual disorders. In traditional Chinese medicine (TCM) theory, qi stagnation and blood stasis syndrome (QS-BSS) is the main syndrome type of menstrual disorders. However, the pharmacodynamic effect of QXH in treating QS-BSS is not clear, and the main active compounds and underlying mechanisms remain unknown. METHODS: A rat model of QS-BSS was established to evaluate the pharmacodynamic effect of QXH. Thereafter, a network pharmacology approach was performed to decipher the active compounds and underlying mechanisms of QXH. RESULTS: QXH could significantly reduce the rising whole blood viscosity (WBV) and plasma viscosity (PV) but also normalize prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time (TT), and fibrinogen (FIB) content in QS-BSS rats. Based on partial least-squares-discriminant analysis (PLS-DA), the low-dose QXH-intervened (QXH-L) and the high-dose QXH-intervened (QXH-H) groups seemed the most effective by calculating the relative distance to normality. Through network pharmacology, QXH may improve hemorheological abnormality mainly via 185 compounds-51 targets-28 pathways, whereas 184 compounds-68 targets-28 pathways were associated with QXH in improving coagulopathy. Subsequently, 25 active compounds of QXH were verified by UPLC-Q/TOF-MS. Furthermore, 174 active compounds of QXH were shared in improving hemorheological abnormality and coagulopathy in QS-BSS, each of which can act on multiple targets to be mainly involved in complement and coagulation cascades, leukocyte transendothelial migration, PPAR signaling pathway, VEGF signaling pathway, and arachidonic acid metabolism. The attribution of active compounds indicated that Angelicae Sinensis Radix (DG), Paeoniae Radix Rubra (CS), Carthami Flos (HH), Persicae Semen (TR), and Corydalis Rhizoma (YHS) were the vital herbs of QXH in treating QS-BSS. CONCLUSION: QXH can improve the hemorheology abnormality and coagulopathy of QS-BSS, which may result from the synergy of multiple compounds, targets, and pathways.

11.
Zhonghua Yi Xue Za Zhi ; 88(14): 990-3, 2008 Apr 08.
Artigo em Zh | MEDLINE | ID: mdl-18756974

RESUMO

OBJECTIVE: To study the effects of homocysteine (Hcy) on the insulin secretion and apoptosis of pancreatic beta cells. METHODS: Clonal mouse pancreatic beta cells of the line NIT-1 were cultured and exposed to Hcy of 50, 100, 250, 500 and 1000 micromol/L for 6, 12, 24, and 48 hours respectively, then glucose of the concentrations of 5.6 mmol/L or 16.7 mmol/L was added for 1 h, and then the insulin concentration in the culture medium was determined by radioimmunoassay, and MTT method was used to detect the survival rate of the cells. NIT-1 cells were exposed to Hcy of the concentrations of 0, 50, 100, 250, 500 and 1000 micromol/L respectively for 24 h, another NIT-1 cells were exposed to Hcy of the final concentration of 250 micromol/L for 0, 6, 12, and 48 h respectively, then flow cytometry (FC) was used to detect the apoptosis of the cells. After exposure to Hcy of the concentrations of 50, 100, 250, 500 and 1000 micromol/L for 72 h DNA agarose gel electrophoresis was performed. RESULTS: Hcy inhibited the basal and glucose-induced insulin secretion in a time- and dose-dependent manner. The insulin secretion amounts of the NIT-1 cells after exposure to 50 micromol/L Hcy for 24 hours and to 100 micromol/L Hcy for 12 hours were significantly lower by 17.1% and 10.8% compared with the control group (all P < 0.01). Incubated with 100 micromol/L Hcy for 12 hours and 24 hours respectively, the survival rates of the NIT-1 cells were 94.56% and 87.93% respectively (P < 0.05, P < 0.01). Incubated with 100 micromol/L Hcy for 24 hours, the apoptosis rate of the NIT-1 cells was 7.21% (P < 0.01); and incubated with 250 micromol/L Hcy for 12 hours, the apoptosis rate of the NIT-1 cells was 12.93% (P < 0.01). Both FC and agarose gel electrophoresis indicated that Hcy induced cell apoptosis time- and concentration-dependently. CONCLUSION: Hcy impairs insulin secretion and induces cell apoptosis of pancreatic beta cells time- and concentration-dependently.


Assuntos
Apoptose/efeitos dos fármacos , Homocisteína/farmacologia , Células Secretoras de Insulina/efeitos dos fármacos , Insulina/metabolismo , Animais , Linhagem Celular Tumoral , Sobrevivência Celular/efeitos dos fármacos , Relação Dose-Resposta a Droga , Citometria de Fluxo , Células Secretoras de Insulina/metabolismo , Células Secretoras de Insulina/patologia , Ilhotas Pancreáticas/metabolismo , Camundongos , Radioimunoensaio
12.
Metabolism ; 56(5): 636-40, 2007 May.
Artigo em Inglês | MEDLINE | ID: mdl-17445538

RESUMO

DNA sequencing analysis was used to scan the genes in a Chinese family with clinically diagnosed autosomal genetic hypercholesterolemia. Two mutations were identified in exon 4 of the low-density lipoprotein receptor gene, which is the possible molecular mechanism of etiology of the family. The proband's extremely high level of serum cholesterol and the related manifestations suggested that he was a familial hypercholesterolemia homozygote and that his parents were in a relatively milder condition. DNA sequencing revealed that the proband had an abnormal pattern of exon 4 of the low-density lipoprotein receptor gene due to a heterozygosity (A/G) at nucleotide 386 and a heterozygous single-base deletion (A) at 685. Nucleotide 386 is the second base of codon 129, and A-->G mutation (D129G) changed this codon from Asp(GAC) to Gly(GGC). The single-base deletion of A at 685 (685del 1) is a frameshift mutation. It changes the phase of triplets, so that all codons are misread after this site of mutation; consequently, the protein expressed by the gene must be abnormal in structure and function. DNA analysis of the other family members showed that the 2 mutations should be respectively located in different alleles of the proband. Both of the 2 mutations have not been reported previously.


Assuntos
Mutação da Fase de Leitura , Hiperlipoproteinemia Tipo II/genética , Mutação Puntual , Receptores de LDL/genética , Adulto , Sequência de Bases , Criança , China , Colesterol/sangue , DNA/química , DNA/genética , Feminino , Humanos , Hiperlipoproteinemia Tipo II/sangue , Lipoproteína(a)/sangue , Masculino , Dados de Sequência Molecular , Linhagem , Reação em Cadeia da Polimerase , Triglicerídeos/sangue
13.
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
14.
Zhonghua Nei Ke Za Zhi ; 45(9): 725-9, 2006 Sep.
Artigo em Zh | MEDLINE | ID: mdl-17166445

RESUMO

OBJECTIVE: To investigate the molecular diagnosis method and possible molecular mechanism of the etiology of a hereditary genetic hypercholesterolemia family by scanning and analyzing the related genes of hereditary hypercholesterolemia in a clinically diagnosed proband and his family members. METHODS: Molecular diagnosis was performed with PCR and then DNA sequencing of the promoter and 18 exons of low-density lipoprotein receptor (LDLR) gene and 3500 - 3531 fragment of apolipoprotein B-100 gene was carried out. The sequencing results were compared with the normal nucleotide sequence queried from the GeneBank database to discover the mutations. RESULTS: Familial defective apolipoprotein B-100 was excluded, as no mutation was detected in the apolipoprotein B 3500 - 3531 fragment. Two new point mutations were detected in the exon 4 of the proband's LDLR gene, they were heterozygous 685delA (Del A at 685) and 386A > G. The sequencing in his parents and other family members showed that the two mutations were paternal origin (685delA) and maternal origin (386A > G) respectively and should be located in different alleles of the proband. CONCLUSION: Molecular diagnosis in the family shows that the proband is a compound heterozygote and the newly detected LDLR gene mutations of 685delA and 386A > G are the possible molecular etiological basis of the disease in this family.


Assuntos
Heterozigoto , Hiperlipoproteinemia Tipo II/genética , Receptores de LDL/genética , Idade de Início , Criança , Análise Mutacional de DNA , Humanos , Masculino , Linhagem , Mutação Puntual , Regiões Promotoras Genéticas
15.
Zhonghua Nan Ke Xue ; 12(6): 516-9, 2006 Jun.
Artigo em Zh | MEDLINE | ID: mdl-16833191

RESUMO

OBJECTIVE: To investigate the effects of tributyltin chloride (TBT) and triphenyltin chloride (TPT) on rat testicular Leydig cells. METHODS: The rat Leydig cells (LC-540) were incubated with 0 to 80 nmol/L TBT and TPT for 24 to approximately 96 h, and then the cell viability was determined by MTT. DNA fragmentation ladder formation of cell apoptosis was examined by agarose electrophoresis. Effects of chelator of intracellular Ca2+ (BAPTA) and the inhibitors of PKA, PKC and TPK on cell apoptosis induced by TBT were observed. Effects of TBT on testosterone production in primary cultured rat Leydig cells treated with or without hCG were detected. RESULTS: TBT and TPT suppressed Leydig cell survival in a time- and dose-dependent manner. The suppressive effects of TBT and TPT on the cell survival was caused by apoptosis which was determined by DNA ladder formation. The apoptotic effect of TBT was possibly mediated by the rise in intracellular Ca2+ because it could be blocked by BAPTA, the chelator of intracellular Ca2+; PKA, PKC and TPK inhibitors did not prevent the apoptotic effects induced by TBT. TBT markedly suppressed testosterone production of primary cultured rat Leydig cells with or without hCG stimulation. CONCLUSION: TBT and TPT induced apoptosis in rat testicular Leydig cells possibly through increasing intracellular Ca2+. TBT reduced the testosterone production of rat Leydig cells.


Assuntos
Poluentes Ambientais/toxicidade , Células Intersticiais do Testículo/efeitos dos fármacos , Compostos Orgânicos de Estanho/toxicidade , Compostos de Trialquitina/toxicidade , Animais , Apoptose/efeitos dos fármacos , Cálcio/metabolismo , Linhagem Celular , Relação Dose-Resposta a Droga , Células Intersticiais do Testículo/metabolismo , Masculino , Ratos , Testosterona/metabolismo
16.
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
17.
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.

18.
Medicine (Baltimore) ; 95(33): e4415, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27537566

RESUMO

BACKGROUND: Thyroid hormone resistance syndrome (THRS) is a rare disorder with increased concentrations of free thyroxine (FT4) and triiodothyronine (FT3), but normal or slightly increased thyroid-stimulating hormone (TSH). The mutations in the thyroid hormone receptor ß (THRß) gene are thought to be the main pathogenesis. OBJECTIVES: The aims of this study were to present 1 pedigree of Chinese THRS, summarize their clinical characteristics, and analyze the gene mutation. METHODS: The clinical characteristics and thyroid function of the proband and his family members were collected. Gene mutations were analyzed by DNA sequencing. RESULTS: The proband and his mother exhibited symptoms of hyperthyroidism, such as palpitations, heat intolerance, and perspiration. The mother also had atrial fibrillation. The rest of the kindred did not display clinical manifestations of hyper- or hypothyroidism. DNA sequencing revealed a heterozygous G>A missense mutation at position 949 in Exon 9 of THRß both in the patient and his mother, which led to the transition from alanine to threonine at position 317 of THRß protein (A317T), whereas the rest of the kindred did not share this mutation. The proband and his mother were diagnosed with pituitary resistance to thyroid hormone. Oral administration of methimazole was stopped and ß-receptor blockers were administrated. CONCLUSIONS: We present 1 pedigree of THRS with heterozygous A317T mutation in THRß gene in the proband and his mother, which is the first reported mutation in Chinese and provides a comprehensive review of available literature.


Assuntos
Receptores beta dos Hormônios Tireóideos/genética , Síndrome da Resistência aos Hormônios Tireóideos/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , China , Feminino , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto/genética , Linhagem , Receptores beta dos Hormônios Tireóideos/fisiologia , Adulto Jovem
19.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao ; 24(6): 596-600, 2002 Dec.
Artigo em Zh | MEDLINE | ID: mdl-12905687

RESUMO

OBJECTIVE: To establish a drug-resistance cell line of human glioma mediated by MGMT. METHODS: Simulated the clinical usage of BCNU to establish a BCNU-resistant human glioma subline by cyclic exposing the U251 parent cells to a constant concentration of BCNU. The resistance index and the expression of MGMT mRNA of U251/BCNU were detected and compared the difference of in vitro proliferation between U251 and U251/BCNU. RESULTS: A subline--U251/BCNU was successfully established in about 4-month culture, which had a stable resistance to BCNU. U251/BCNU cells showed 17-fold higher resistance to BCNU than did U251 cells by MTT assay, while U251/BCNU cells expressed MGMT mRNA. The doubling time of U251 and U251/BCNU had no statistical difference. CONCLUSION: A drug-resistance cell line of human glioma mediated by MGMT is established, which could provide experimental basis for further studies on the resistance mechanism and reversal methods of glioma chemotherapy.


Assuntos
Neoplasias Encefálicas/patologia , Resistencia a Medicamentos Antineoplásicos/genética , Glioma/patologia , O(6)-Metilguanina-DNA Metiltransferase/fisiologia , Membro 1 da Subfamília B de Cassetes de Ligação de ATP/biossíntese , Linhagem Celular Tumoral , Metilases de Modificação do DNA/biossíntese , Metilases de Modificação do DNA/genética , Humanos , O(6)-Metilguanina-DNA Metiltransferase/metabolismo
20.
Int J Mol Med ; 32(6): 1401-6, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24142192

RESUMO

Endoplasmic reticulum (ER) stress and autophagy have both been reported to be associated with lipotoxicity in ß-cells, yet the relationship between them has not been fully clarified. In the present study, we tested the hypothesis that the ER stress-autophagic pathway in ß-cells is a downstream pathway activated following saturated fatty acid treatment. Mouse insulinoma (MIN6) ß-cells were treated with either palmitate or thapsigargin (TG) with or without various inhibitors. The results indicated that palmitate strongly enhanced the protein expression of microtubule-associated protein 1 light chain 3 (LC3)-II. Furthermore, the expression levels of ER stress markers, BiP and CHOP, and phosphorylation levels of JNK were increased after palmitate treatment. In addition, palmitate-induced autophagy was blocked by 500 µM of the ER stress inhibitor tauroursodeoxycholic acid (TUDCA) or 20 µM JNK inhibitor SP600125. In turn, the phosphorylation of Akt (Ser473) was also downregulated by palmitate, while the levels of insulin receptor ß (IRß) were not reduced. A further increase in LC3-II levels was observed in cells treated with both palmitate and 50 µM PI3K/Akt inhibitor LY294002 compared with cells treated with palmitate alone. Palmitate-induced phospho-Akt (Ser473) downregulation was also inhibited by TUDCA or SP600125. Pretreatment with the autophagy inhibitor 3-methyladenine (3-MA, 5 mM) for 1 h increased the expression of ER stress markers, and enhanced cell injuries caused by 0.1 µM TG, including decreased cell viability and insulin secretion. Palmitate induces autophagy in pancreatic ß-cells possibly through activation of ER stress and its downstream JNK pathway. Palmitate-induced autophagy may protect ß-cells against cell injuries caused by ER stress.


Assuntos
Autofagia/efeitos dos fármacos , Estresse do Retículo Endoplasmático/efeitos dos fármacos , Células Secretoras de Insulina/enzimologia , Células Secretoras de Insulina/patologia , Sistema de Sinalização das MAP Quinases/efeitos dos fármacos , Palmitatos/farmacologia , Animais , Linhagem Celular Tumoral , Células Secretoras de Insulina/efeitos dos fármacos , Camundongos , Modelos Biológicos , Fosforilação/efeitos dos fármacos , Proteínas Proto-Oncogênicas c-akt/metabolismo , Regulação para Cima/efeitos dos fármacos
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