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1.
Zhonghua Yi Xue Za Zhi ; 102: 1-10, 2022 May 31.
Artigo em Zh | MEDLINE | ID: mdl-35701091

RESUMO

Objective: To address the limitations of existing methods and tools for evaluating clinical practice guidelines, we aimed to develop a comprehensive instrument focusing on the three main dimensions of guideline development: scientificity, transparency, applicability. We will use it to rank the guidelines according to the scores. We abbreviated it as STAR, and its reliability, validity and usability were also tested. Methods: A multidisciplinary expert working group was set up, including methodologists, statisticians, journal editors, medical professionals, and others. Scoping review, Delphi methods and hierarchical analysis were used to determine the final checklist of STAR. Results: The new instrument contained 11 domains and 39 items. Intrinsic reliability of each domain was indicated by Cronbach's α coefficient, with a average value of 0.646. The Cohen's kappa coefficients for methodological evaluators and clinical evaluators were 0.783 and 0.618. The overall content validity index was 0.905. The R2 for the criterion validity analysis was 0.76. The average score for usability of the items was 4.6, and the mean time spent to evaluate each guideline was 20 minutes. Conclusion: The instrument has good reliability, validity and evaluating efficiency, and can be used for evaluating and ranking guidelines more comprehensively.

2.
Zhonghua Jie He He Hu Xi Za Zhi ; 44(4): 360-364, 2021 Apr 12.
Artigo em Zh | MEDLINE | ID: mdl-33832024

RESUMO

Objective: To observe the clinical feature of familiar hereditary protein S deficiency, and to explore the related gene mutation. Methods: The blood samples were obtained from the proband and the family memebers(3 generations,6 persons). PROS1 gene of the proband and the family members was analyzed. The 15 exons and flanking sequence of PROS1 gene were analyzed by PCR and DNA sequencing. Results: Five out of 6 family members were diagnosed as having hereditary protein S deficiency. The proband suffered from pulmonary embolism. The others had no obvious thrombotic event. The gene sequencing revealed that the proband carried a c.-168C>T homozygous variant in the promoter of exon 1. His parents, brother and son all carried c.-168C>T heterozygosis variant at the same position. The gene of his wife was a wild type. Conclusion: A gene variant (c.-168C>T) of PROS1 was discovered in this Chinese family. Gene variant of PROS1 may result in protein S deficiency. Patients with protein S deficiency may suffer from vein thrombosis and(or) pulmonary embolism.


Assuntos
Deficiência de Proteína S , Consanguinidade , Éxons , Família , Humanos , Masculino , Mutação , Linhagem , Deficiência de Proteína S/genética
3.
J Dairy Sci ; 103(11): 10074-10082, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32896406

RESUMO

Here, we examined the effects of Lonicera japonica extract (LJE) on lactation performance, antioxidant status, and endocrine and immune function in heat-stressed mid-lactation dairy cows. Twenty-four healthy Chinese Holstein mid-lactation dairy cows, all with similar milk yield (30.0 ± 1.0 kg/d), parity (2.5 ± 0.3), and days in milk (105 ± 5 d) were allocated to 4 groups using a randomized complete block design: a negative control group (without LJE supplementation; CON) and groups that received LJE at 14, 28, and 56 g/d. The experiment lasted 10 wk over a hot summer, with a pre-feeding period of 2 wk. Cows were exposed to heat stress, as the average temperature-humidity index was greater than 72. The results showed that LJE had no effect on respiration rate; however, it reduced the rectal temperature of dairy cows experiencing heat stress in both a linear and quadratic manner; the lowest (39.03°C) was recorded for the LJE-28 group, lower than the CON group. Supplementation with LJE did not affect dry matter intake, milk yield, or milk composition. The majority of biochemical parameters in serum were unaffected by supplementation with different amounts of LJE; the exception was creatinine, which was reduced quadratically. Compared with the CON group, serum triiodothyronine concentrations increased significantly in the LJE-28 group. Addition of LJE to the diet increased thyroxine concentrations quadratically; values peaked at 18.62 ng/mL in the LJE-28 group. Furthermore, supplementation with increasing amounts of LJE quadratically increased the activity of glutathione peroxidase and total antioxidant capacity in serum but decreased concentration of malondialdehyde. Although we detected no differences in the concentrations of IgA, IgM, or cytokines, dairy cows in the LJE-28 group had higher IgG and IL-4 concentrations than did cows in the CON group. Supplementation with LJE increased concentrations of IgG and IL-4 in the serum quadratically but decreased that of IL-2. Finally, heat shock protein 72 concentrations in the serum tended to fall quadratically as the amount of LJE increased. In summary, LJE had no negative effects on lactation performance but helped to alleviate heat stress by improving antioxidant status and promoting endocrine and immune functions. Supplementation with LJE at 28 g/d is recommended for lactating dairy cows experiencing heat stress during hot summers.


Assuntos
Bovinos/fisiologia , Suplementos Nutricionais/análise , Lactação/efeitos dos fármacos , Lonicera/química , Leite/metabolismo , Extratos Vegetais/administração & dosagem , Animais , Antioxidantes/metabolismo , Bovinos/imunologia , Indústria de Laticínios , Dieta/veterinária , Sistema Endócrino/metabolismo , Feminino , Glutationa Peroxidase/metabolismo , Proteínas de Choque Térmico HSP72/sangue , Resposta ao Choque Térmico , Fatores Imunológicos/metabolismo , Malondialdeído/sangue , Leite/química , Estresse Oxidativo/efeitos dos fármacos , Paridade , Gravidez , Estresse Fisiológico
4.
Zhonghua Yi Xue Za Zhi ; 99(10): 778-782, 2019 Mar 12.
Artigo em Zh | MEDLINE | ID: mdl-30884635

RESUMO

Objective: To evaluate the effectiveness and safety of transurethral bipolar plasmakinetic prostatectomy in the treatment of benign prostatic hyperplasia in high-risk and senior patients in China. Methods: The PubMed, Cochrane Library, CBM, CNKI and WanFang databases were searched with computer for collecting relevant interventional case series from establishment dates to September 14, 2018. After quality evaluation and data extraction independently conducted by two authors, the Meta-analysis was performed using the Comprehensive Meta-analysis V2 software. Results: Eighteen studies involving 1 899 patients are included. Maximum flow rate increased to 12.28 ml/s (95%CI: 8.42-16.14), 12.88 ml/s (95%CI: 9.85-15.92) ,14.32 ml/s (95%CI: 10.47-18.18), 14.93 ml/s (95%CI: 10.19-19.67) and 20.00 ml/s (95%CI: 19.08-20.92) in 1, 3, 6, 12 and 24 months after surgery, respectively. International prostate symptom score decreased to -18.60 (95%CI: -23.20--14.00), -17.62 (95%CI: -20.21--15.03), -19.14 (95%CI: -20.70--17.59), -19.06 (95%CI: -21.53--16.60) and -22.90 (95%CI: -24.26--21.54), respectively. Quality of life decreased to -2.38 (95%CI: -4.26--0.50), -3.39 (95%CI: -4.57--2.21),-3.75 (95%CI: -4.14--3.36), -3.36(95%CI: -4.56--2.16), and -4.58(95%CI: -4.75--4.41). Post void residual decreased to -231.16 ml (95%CI: -288.30--174.01), -76.10 ml (95%CI: -116.71--35.50), -159.90 ml(95%CI: -207.21--112.59) and -87.70 ml (95%CI: -91.91--83.48). The event rate of postoperative adverse reactions all were not high. Conclusion: Transurethral bipolar plasmakinetic prostatectomy has better clinical efficacy and no obvious side effects in the treatment of benign prostatic hyperplasia in high-risk and senior patients in China.


Assuntos
Transtorno Bipolar , Hiperplasia Prostática , Ressecção Transuretral da Próstata , China , Humanos , Masculino , Prostatectomia , Qualidade de Vida , Resultado do Tratamento
5.
Asian-Australas J Anim Sci ; 31(3): 410-420, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28728398

RESUMO

OBJECTIVE: This experiment was to evaluate the effects of the dietary energy levels on the physiological parameters and reproductive performance during gestation over three parities in sows. METHODS: A total of 52 F1 gilts (Yorkshire×Landrace) were allotted to one of four dietary treatments using a completely randomized design. The treatments contained 3,100, 3,200, 3,300, or 3,400 kcal of metabolizable energy (ME)/kg diet but feed was provided at 2.0, 2.2, and 2.4 kg/d in the first, second and third parity, respectively. RESULTS: The body weight and body weight gain during gestation increased as the dietary energy level increased (p<0.05, and p<0.01) in the first parity. In the second parity, the body weight of sows was the lowest (p<0.05) when 3,100 kcal of ME/kg treatment diet was provided. The body weight was higher as the dietary energy level increased (p<0.05) during the gestation period in the third parity. During lactation, the voluntary feed intake of lactating sows tended to decrease when gilts were fed higher energy treatment diet (p = 0.08) and the body weight, body weight gain were increased by dietary energy level during gestation (p< 0.05). Backfat thickness was not affected by dietary treatment during the gestation period in three parities, interestingly backfat change from breeding to d 110 of gestation was higher as the dietary energy level increased at the first parity (p<0.05). When gilts were fed 3,400 kcal of ME/kg treatment diet a higher number of weaning piglets was observed in the first parity (p<0.05). The highest culling rate (69%) was seen when gestating sows were fed 3,100 kcal/kg ME treatment diet during three parities. CONCLUSION: In conclusion, the adequate energy intake of gestating sows should be 6,400 or 6,600 kcal of ME/d, 7,040 or 7,260 kcal of ME/d, and 7,680 or 7,920 kcal of ME/d for parity 1, 2, and 3, respectively.

6.
Zhonghua Fu Chan Ke Za Zhi ; 51(8): 597-601, 2016 Aug 25.
Artigo em Zh | MEDLINE | ID: mdl-27561939

RESUMO

OBJECTIVE: To explore the association between the C46T polymorphism of coagulation factor Ⅻ (FⅫ) gene and the involvement of FⅫ activity (FⅫ:C) in patients with unexplained recurrent spontaneous abortion (URSA), and to elucidate its role in the pathogenesis of URSA. METHODS: This study included 203 patients with URSA (URSA group) and 171 healthy women with at least one child and no history of infertility or miscarriage (control group) in the southern area of Zhejiang Province. The C46T polymorphism of the FⅫ gene was analyzed with matrix-assisted laser desorption/ionization time of flight-mass spectrometry (MALDI-TOF-MS) in all subjects. The values of prothrombin time, activated partial thromboplastin time (APTT), fibrinogen, FⅫ:C and other coagulant parameters were determined. The frequency distribution of the wild-type (CC), heterozygote (CT), homozygote (TT) genotypes and C and T alleles were compared between the patients and controls. A comprehensive analysis of association was conducted between C46T genotypes and the FⅫ:C levels in URSA patients. RESULTS: The CC, CT, TT genotypes of the FⅫ gene were observed in 7 (3.4%, 7/203), 83 (40.9%, 83/203) and 113 (55.7%, 113/203) patients with URSA versus 7 (4.1%, 7/171), 46 (26.9%, 46/171) and 118 (69.0%, 118/171) controls. The frequency of CT in the patients with URSA was significantly higher than that in controls, but the frequency of TT in the patients was lower than that in controls (χ(2)=7.939, OR=1.884, 95%CI: 1.210-2.935, P<0.05). The frequencies of allele C and allele T were observed in 97 (23.9%, 97/406) and 309 (76.1%, 309/406) patients with URSA versus 60 (17.5%, 60/342) and 282 (82.5%, 282/342) controls. The distribution frequency of allele T in URSA group was lower than that in control group (χ(2)=4.510, OR=1.475, 95%CI: 1.029-2.115, P<0.05). The FⅫ: C levels in the patients were (102±13)% in CC genotype, (78±11)% in CT genotype and (59±9)% in TT genotype, respectively. The differences of the FⅫ: C levels between the CC and CT, CT and TT, CC and TT genotypes in the patients were significant (all P<0.05). CONCLUSIONS: The low level of FⅫ:C maybe result from the T allele of the FⅫ gene in URSA patients. The CT genotype might be relative to the pathogenesis of URSA in a Chinese Han female population from the southern area of Zhejiang province.


Assuntos
Aborto Habitual/genética , Aborto Espontâneo/genética , Povo Asiático/genética , Fator XII , Polimorfismo Genético/genética , Aborto Habitual/etnologia , Aborto Habitual/patologia , Aborto Espontâneo/etnologia , Aborto Espontâneo/patologia , Alelos , Estudos de Casos e Controles , China/epidemiologia , Feminino , Fibrinogênio , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Heterozigoto , Humanos , Infertilidade , Gravidez
7.
Risk Anal ; 35(8): 1520-35, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25868529

RESUMO

Using transnational terrorism data from 1980 to 2000, this study empirically examines the relationships between frequency of participation in transnational terrorism acts and economic development and education improvement. We find an inverse U-shaped association between the frequency of various nationals acting as perpetrators in transnational terrorism acts and per capita income in their respective home countries. As per capita incomes increase from relatively low levels, frequencies of participation in transnational terrorism increase. However, at sufficiently higher levels of per capita income, further increase in per capita income is negatively associated with the rate of participation in transnational terrorism. Education improvement from elementary to secondary is positively correlated with frequency of participation in transnational terrorism events, whereas further improvement from secondary to tertiary level is negatively correlated with participation in transnational terrorism. We also find that citizens of countries with greater openness to international trade, lower degree of income inequality, greater economic freedom, larger proportion of population with tertiary education, and less religious prevalence participate in transnational terrorism events less frequently.


Assuntos
Educação , Internacionalidade , Terrorismo , Humanos , Classe Social
8.
Genet Mol Res ; 13(2): 2969-77, 2014 Apr 16.
Artigo em Inglês | MEDLINE | ID: mdl-24782131

RESUMO

We investigated the alteration of coagulation state in a protein C (PC) deficiency pedigree and the impact of the PC gene mutations. The pedigree of a proband with cerebral hemorrhagic infarction had sixteen members with four generations. The plasma levels of PC activity (PC:A), protein S activity (PS:A), factor V:C and factor VIII:C, and routine coagulation tests were measured. Nine exons of the PC gene (PROC) were sequenced. Plasma PC:A and PC antigen (PC:Ag) of the proband were 26 and 18%, respectively, which was significantly lower than normal ranges. Two heterozygous missense mutations of PC in the proband were identified, T>G at site 6128 (exon 7) and G>C at site 8478 (exon 9) resulting in F139V and D255H, respectively. The family members with F139V (N = 4) or D255H (N = 4) had lower levels of PC:A and PC:Ag than members with wild-type PROC (N = 6). D255H mutation caused a more significant decrease in the levels of PC:A, PC:Ag and factor V:C as compared to F139V mutation (P < 0.05). Two independent mutations, F139V and D255H, of PROC reduce PC function. Compound heterozygous condition of the two mutations can cause synergistic PC deficiency, but resulting in later onset of cerebral thrombosis.


Assuntos
Deficiência de Proteína C/genética , Proteína C/genética , Trombose/genética , Adolescente , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Éxons , Feminino , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Linhagem , Deficiência de Proteína C/patologia , Trombose/patologia
9.
Radiography (Lond) ; 30(3): 926-931, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38657385

RESUMO

INTRODUCTION: Early diagnosis of patients with dilated cardiomyopathy (DCM) remains challenging. Cardiac MR can correlate myocardial changes with their pathological basis. There have been some previous studies on the effect of T1 mapping in DCM, but there is limited data on the incremental value of T2 mapping for DCM in routine clinical practice. This study will examine whether the combination of MRI T1 and T2 mapping offers greater advantages in the diagnosis of DCM. METHODS: The study included 28 patients with DCM and 21 healthy controls. CMR evaluation included late gadolinium enhancement (LGE), T1 mapping, extracellular volume (ECV) fraction and T2 mapping. The DCM group was divided into LGE (+) and LGE (-) subgroups. The main modes of LGE are subendocardial, midwall, subepicardial, or transmural. T1 values, T2 values, and ECV in the 16 segments myocardial levels were measured by post-processing software. Student's t-tests or Mann-Whitney U test was used to compare between two groups, and one-way ANOVA or Kruskal-Wallis H test was used to compare between multiple groups, with p values corrected by Bonferroni. The difference was considered statistically significant at P < 0.05. ROC curve analysis was used to compare the area under the curve (AUC) of each index and its combined value, and the cut-off value, sensitivity and specificity were determined by Jordan's index. RESULTS: Mean native myocardial T1, ECV and T2 were significantly higher in the DCM group compared to controls (p ≤ 0.001, respectively). The best cut-off values for T1, T2 and ECV to discriminate DCM from controls were 1184 ms, 40.9 ms and 29.2%, respectively. The AUC of T1, ECV and T2 were 0.87, 0.89, and 0.83, respectively. The combined AUC of the three values was 0.96. CONCLUSION: Native T1 value and ECV overcome some of the limitations of LGE, and the T2 helps to understand the extent of myocardial damage. The combination of T1 and T2 mapping techniques can reveal fibrotic and oedematous changes in the early stages of DCM, providing a more comprehensive assessment of DCM and better guidance for individualised clinical management of patients. IMPLICATIONS FOR PRACTICE: We suggest that the addition of T2 mapping to the routine CMR examination of patients with suspected DCM, and the combined assessment of T1mapping and T2 mapping can provide complementary information about the disease and improve the early diagnosis of DCM.


Assuntos
Cardiomiopatia Dilatada , Meios de Contraste , Humanos , Cardiomiopatia Dilatada/diagnóstico por imagem , Feminino , Masculino , Pessoa de Meia-Idade , Adulto , Estudos de Casos e Controles , Imageamento por Ressonância Magnética/métodos , Imagem Cinética por Ressonância Magnética/métodos , Sensibilidade e Especificidade
10.
Zhonghua Xue Ye Xue Za Zhi ; 45(3): 294-298, 2024 Mar 14.
Artigo em Zh | MEDLINE | ID: mdl-38716603

RESUMO

A 34 year old female patient was scheduled to undergo surgical resection due to a "breast nodule". Preoperative examination revealed an activated partial thromboplastin time (APTT) of 66.2 seconds, coagulation factor Ⅺ activity (FⅪ: C) of 2%, and FⅪ antigen (FⅪ: Ag) of 40.3%. The patient and family members showed no abnormal bleeding symptoms. Diagnosed as hereditary coagulation factor Ⅺ deficiency. Genetic testing revealed that the F11 gene had a heterozygous nonsense mutation in exon 10, c.1107C>A (p.Tyr351stop), and a heterozygous missense mutation in exon 13, c.1562A>G (p.Tyr503Cys). The father and son were p Heterozygous carriers of Tyr351stop mutation, while the mother and daughter are p Heterozygous carriers of Tyr503Cys mutations. The in vitro expression results showed that p The Tyr351stop mutation resulted in a significant decrease in the transcription level of F11 gene, while p The Tyr503Cys mutation has no effect on the transcription level and protein expression level of F11 gene, but it leads to a significant decrease in the level of FⅪ:C in the cell culture supernatant.


Assuntos
Heterozigoto , Linhagem , Humanos , Feminino , Adulto , Mutação , Fator XI/genética , Masculino
11.
Nat Genet ; 29(4): 426-34, 2001 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-11726929

RESUMO

The ability of Saccharomyces cerevisiae to tolerate ionizing radiation damage requires many DNA-repair and checkpoint genes, most having human orthologs. A genome-wide screen of diploid mutants homozygous with respect to deletions of 3,670 nonessential genes revealed 107 new loci that influence gamma-ray sensitivity. Many affect replication, recombination and checkpoint functions. Nearly 90% were sensitive to other agents, and most new genes could be assigned to the following functional groups: chromatin remodeling, chromosome segregation, nuclear pore formation, transcription, Golgi/vacuolar activities, ubiquitin-mediated protein degradation, cytokinesis, mitochondrial activity and cell wall maintenance. Over 50% share homology with human genes, including 17 implicated in cancer, indicating that a large set of newly identified human genes may have related roles in the toleration of radiation damage.


Assuntos
Genes Fúngicos , Tolerância a Radiação/genética , Saccharomyces cerevisiae/efeitos da radiação , Sequência de Bases , Dano ao DNA , Primers do DNA , Raios gama , Mutação , Ploidias , Recombinação Genética , Saccharomyces cerevisiae/genética
12.
Zhonghua Xue Ye Xue Za Zhi ; 44(11): 930-935, 2023 Nov 14.
Artigo em Zh | MEDLINE | ID: mdl-38185523

RESUMO

Objective: To analyze the phenotype and genotype of two pedigrees with inherited fibrinogen (Fg) deficiency caused by two heterozygous mutations. We also preliminarily probed the molecular pathogenesis. Methods: The prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time (TT) and plasma fibrinogen activity (Fg∶C) of all family members (nine people across three generations and three people across two generations) were measured by the clotting method. Fibrinogen antigen (Fg:Ag) was measured by immunoturbidimetry. Direct DNA sequencing was performed to analyze all exons, flanking sequences, and mutated sites of FGA, FGB, and FGG for all members. Thrombin-catalyzed fibrinogen polymerization was performed. ClustalX 2.1 software was used to analyze the conservatism of the mutated sites. MutationTaster, PolyPhen-2, PROVEAN, SIFT, and LRT online bioinformatics software were applied to predict pathogenicity. Swiss PDB Viewer 4.0.1 was used to analyze the changes in protein spatial structure and molecular forces before and after mutation. Results: The Fg∶C of two probands decreased (1.28 g/L and 0.98 g/L, respectively). The Fg∶Ag of proband 1 was in the normal range of 2.20 g/L, while it was decreased to 1.01 g/L in proband 2. Through genetic analysis, we identified a heterozygous missense mutation (c.293C>A; p.BßAla98Asp) in exon 2 of proband 1 and a heterozygous nonsense mutation (c.1418C>G; p.BßSer473*) in exon 8 of proband 2. The conservatism analysis revealed that Ala98 and Ser473 presented different conservative states among homologous species. Online bioinformatics software predicted that p.BßAla98Asp and p.BßSer473* were pathogenic. Protein models demonstrated that the p.BßAla98Asp mutation influenced hydrogen bonds between amino acids, and the p.BßSer473* mutation resulted in protein truncation. Conclusion: The dysfibrinogenemia of proband 1 and the hypofibrinogenemia of proband 2 appeared to be related to the p.BßAla98Asp heterozygous missense mutation and the p.BßSer473* heterozygous nonsense mutation, respectively. This is the first ever report of these mutations.


Assuntos
Afibrinogenemia , Humanos , Afibrinogenemia/genética , Códon sem Sentido , Linhagem , Fenótipo , Fibrinogênio/genética , Genótipo
13.
Animal ; 16(5): 100517, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35436649

RESUMO

Supplementing diets with active dry yeast (ADY, Saccharomyces cerevisiae) improves the carcass quality grade of beef cattle and the tenderness of beef. The relevant mechanisms have not been fully elucidated, but may be related to the effect of ADY on oxidative stress and the activity of matrix metalloproteinases (MMPs). To provide further insight into these mechanisms, this study evaluated the influence of ADY supplementation on growth performance, carcass traits, meat quality, concentrations of MMPs in serum (MMP-2, MMP-9 and MMP-13), oxidative stress indices and antioxidant capacity indices in beef cattle. Forty-six crossbred Simmental × Yanbian bulls (∼18 months of age, BW 436 ± 35 kg) participated in a 145-day finishing trial. ADY supplementation significantly improved marbling deposition, intramuscular fat content, and beef tenderness (P < 0.05); altered individual fatty acid proportions in the beef and increased saturated fatty acids while decreasing polyunsaturated fatty acids (P < 0.05); significantly decreased the abundance of reactive oxygen species in serum and meat; significantly increased the level of superoxide dismutase in meat (P < 0.05); tended to increase the level of catalase (P = 0.075) in serum and glutathione reductase (P = 0.066) in meat; and increased the secretion of MMPs. The improvement of beef tenderness following ADY supplementation of finishing bulls is related to the effects of ADY on the secretion of MMPs and the lowering of oxidative stress.


Assuntos
Ração Animal , Saccharomyces cerevisiae , Ração Animal/análise , Animais , Bovinos , Dieta/veterinária , Suplementos Nutricionais , Ácidos Graxos , Masculino , Metaloproteinases da Matriz , Carne/análise , Estresse Oxidativo
14.
Zhonghua Xue Ye Xue Za Zhi ; 43(1): 35-40, 2022 Jan 14.
Artigo em Zh | MEDLINE | ID: mdl-35231991

RESUMO

Objective: To investigate the molecular pathogenesis and clinical features of unrelated 12 patients with inherited coagulation protein C (PC) deficiency in Chinese population. Methods: The PC activity (PC:A) and PC antigen (PC:Ag) were detected by chromogenic substrate and enzyme linked immunosorbent assay, respectively. The nine exons and flanking sequences of the protein C (PROC) gene were amplified by polymerase chain reaction with direct sequencing, and the suspected mutations were validated by reverse sequencing (clone sequencing for deletion mutations) . Results: The PC:A of the 12 probands decreased significantly, ranging from 18% to 55%, and the PC:Ag of the 10 probands decreased significantly. Eleven mutations were found, out of which four mutations [c.383G>A (p.Gly128Asp) , c.997G>A (p.Ala291Thr) , c.1318C>T (p.Arg398Cys) , and c.532G>C (p.Leu278Pro) ] were discovered for the first time. Six mutations were in the serine protease domain, four mutations were located in epidermal growth factor (EGF) -like domains, and one mutation was located in activation peptide. There were two deletion mutations (p.Met364Trp fsX15 and p.Lys192del) , and the rest were missense mutations. Mutations p.Phe181Val and p.Arg189Trp were identified in three unrelated families. All mutations may be inherited, and consanguineous marriages were reported in two families. Among the probands, nine cases had venous thrombosis, two cases had poor pregnancy manifestations, and one case had purpura. Conclusion: Patients with PC deficiency caused by PROC gene defects are prone to venous thrombosis, especially when there are other thrombotic factors present at the same time.


Assuntos
Deficiência de Proteína C , Humanos , Mutação , Mutação de Sentido Incorreto , Linhagem , Fenótipo , Proteína C/genética , Deficiência de Proteína C/genética
15.
J Neural Transm (Vienna) ; 118(4): 555-61, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21246223

RESUMO

Acetylcholine (ACh) regulates pain perception in the central nervous system. However, the mechanism of action of ACh on pain-related neurons in the hippocampal CA3 is not clear. The present study aimed to determine the effect of ACh, muscarinic ACh receptors (mAChRs) agonist pilocarpine and mAChRs antagonist atropine on the pain-evoked responses of pain-excited neuron (PEN) and pain-inhibited neuron (PIN) in the hippocampal CA3 of normal rats. The trains of electric impulses applied to the sciatic nerve were used as noxious stimulation. The electric activities of PEN or PIN in the hippocampal CA3 were recorded by using a glass microelectrode. Our results showed that, in the hippocampal CA3, the intra-CA3 microinjection of ACh (2 µg/1 µl) or pilocarpine (2 µg/1 µl) decreased the discharge frequency and prolonged firing latency of PEN, and increased the discharge frequency and shortened firing inhibitory duration (ID) of PIN, i.e. exhibiting the analgesic effect of ACh or pilocarpine. The intra-CA3 administration of atropine (0.5 µg/1 µl) produced an opposite effect. On the basis of the above-mentioned findings, we can deduce that ACh and mAChRs in the hippocampal CA3 are involved in the modulation of nociceptive response by regulating the electric activities of PEN and PIN.


Assuntos
Acetilcolina/farmacologia , Potenciais de Ação/efeitos dos fármacos , Região CA3 Hipocampal/efeitos dos fármacos , Região CA3 Hipocampal/fisiopatologia , Dor/tratamento farmacológico , Dor/fisiopatologia , Acetilcolina/fisiologia , Potenciais de Ação/fisiologia , Animais , Agonistas Colinérgicos/farmacologia , Estimulação Elétrica/efeitos adversos , Estimulação Elétrica/métodos , Feminino , Agonistas Muscarínicos/farmacologia , Antagonistas Muscarínicos/farmacologia , Neurônios/efeitos dos fármacos , Neurônios/metabolismo , Ratos , Ratos Wistar
16.
J Environ Monit ; 13(10): 2886-94, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21892479

RESUMO

Environmental monitoring data for planning, implementing and evaluating the Total Maximum Daily Loads (TMDL) management system have been measured at about 8-day intervals in a number of rivers in Korea since 2004. In the present study, water quality parameters such as Suspended Solids (SS), Biochemical Oxygen Demand (BOD), Dissolved Oxygen (DO), Total Nitrogen (TN), and Total Phosphorus (TP) and the corresponding runoff were collected from six stations in the Yeongsan River basin for six years and transformed into monthly mean values. With the primary objective to understand spatiotemporal characteristics of the data, a methodologically systematic application of a Self-Organizing Map (SOM) was made. The SOM application classified the environmental monitoring data into nine clusters showing exclusively distinguishable patterns. Data frequency at each station on a monthly basis identified the spatiotemporal distribution for the first time in the study area. Consequently, the SOM application provided useful information that the sub-basin containing a metropolitan city is associated with deteriorating water quality and should be monitored and managed carefully during spring and summer for water quality improvement in the river basin.


Assuntos
Monitoramento Ambiental/métodos , Rios/química , Poluição da Água/estatística & dados numéricos , Análise da Demanda Biológica de Oxigênio , Coreia (Geográfico) , Nitrogênio/análise , Oxigênio/análise , Fósforo/análise , Poluentes da Água/análise
17.
Zhonghua Xue Ye Xue Za Zhi ; 42(2): 135-139, 2021 Feb 14.
Artigo em Zh | MEDLINE | ID: mdl-33858044

RESUMO

Objective: To explore the molecular pathogenesis of a family with hereditary factor Ⅴ (FⅤ) deficiency. Methods: All the exons, flanking sequences, 5' and 3' untranslated regions of the F5 of the proband, and the corresponding mutation sites of the family members were analyzed via direct DNA sequencing. The CAT measurement was used to detect the amount of thrombin produced. The ClustalX software was used to analyze the conservation of mutation sites. The online bioinformatics software, Mutation Taster, PolyPhen-2, PROVEAN, LRT, and SIFT were applied to predict the effects of mutation sites on protein function. The Swiss-PdbViewer software was used to analyze the changes in the protein model and intermolecular force before and after amino acid variation. Results: The proband had a heterozygous missense mutation c.1258G>T (p.Gly392Cys) in exon 8 of the F5, and a heterozygous deletion mutation c.4797delG (p.Glu1572Lys fsX19) in exon 14, which results in a frameshift and produces a truncated protein. Her grandfather and father had p.Gly392Cys heterozygous variation, whereas her maternal grandmother, mother, little aunt, and cousin all had p.Glu1572LysfsX19 heterozygous variation. The ratio of proband's thrombin generation delay to peak time was significantly increased. Conservation analysis results showed that p.Gly392 was located in a conserved region among the 10 homologous species. Five online bioinformatics software predicted that p.Gly392Cys was pathogenic, and Mutation Taster also predicted p.Glu1572Lys fsX19 as a pathogenic variant. Protein model analysis showed that the replacement of Gly392 by Cys392 can lead to the extension of the original hydrogen bond and the formation of a new steric hindrance, which affected the stability of the protein structure. Conclusion: The c.1258G>T heterozygous missense mutation in exon 8 and the c.4797delG heterozygous deletion mutation in exon 14 of the F5 may be responsible for the decrease of FⅤ levels in this family.


Assuntos
Deficiência do Fator V , Éxons , Deficiência do Fator V/genética , Feminino , Heterozigoto , Humanos , Mutação , Linhagem
18.
J Exp Med ; 185(10): 1827-36, 1997 May 19.
Artigo em Inglês | MEDLINE | ID: mdl-9151708

RESUMO

We isolated a new mouse gene that is highly expressed in thymocytes, testis, and brain. This gene, SRG3, showed a significant sequence homology to SWI3, a yeast transcriptional activator, and its human homolog BAF155. SRG3 encodes 1,100 amino acids and has 33-47% identity with SWI3 protein over three regions. The SRG3 protein contains an acidic NH2 terminus, a myb-like DNA binding domain, a leucine-zipper motif, and a proline- and glutamine-rich region at its COOH terminus. Rabbit antiserum raised against a COOH-terminal polypeptide of the SRG3 recognized a protein with an apparent molecular mass of 155 kD. The serum also detected a 170-kD protein that seems to be a mouse homologue of human BAF170. Immunoprecipitation of cell extract with the antiserum against the mouse SRG3 also brought down a 195-kD protein that could be recognized by an antiserum raised against human SWI2 protein. The results suggest that the SRG3 protein associates with a mouse SWI2. The SRG3 protein is expressed about three times higher in thymocytes than in peripheral lymphocytes. The expression of anti-sense RNA to SRG3 mRNA in a thymoma cell line, S49.1, reduced the expression level of the SRG3 protein, and decreased the apoptotic cell death induced by glucocorticoids. These results suggest that the SRG3 protein is involved in the glucocorticoid-induced apoptosis in the thymoma cell line. This implicates that the SRG3 may play an important regulatory role during T cell development in thymus.


Assuntos
Apoptose , Proteínas de Saccharomyces cerevisiae , Linfócitos T/metabolismo , Timoma/patologia , Neoplasias do Timo/patologia , Transativadores/biossíntese , Sequência de Aminoácidos , Animais , Linfócitos B/imunologia , Sequência de Bases , Encéfalo/metabolismo , Clonagem Molecular , Proteínas Fúngicas/química , Teste de Complementação Genética , Humanos , Masculino , Camundongos , Dados de Sequência Molecular , Proteínas Nucleares/química , Coelhos , Proteínas Recombinantes de Fusão/biossíntese , Proteínas Repressoras , Saccharomyces cerevisiae/genética , Alinhamento de Sequência , Homologia de Sequência de Aminoácidos , Testículo/metabolismo , Timoma/fisiopatologia , Neoplasias do Timo/fisiopatologia , Transativadores/química , Transativadores/genética , Fatores de Transcrição/química , Células Tumorais Cultivadas
19.
Zhonghua Kou Qiang Yi Xue Za Zhi ; 55(4): 271-275, 2020 Apr 09.
Artigo em Zh | MEDLINE | ID: mdl-32268629

RESUMO

With the increase of adult patients seeking for orthodontic treatment, the influence of periodontal tissue on orthodontic treatment has gradually become the focus. For patients with periodontitis, it is essential to controlling the severity of periodontitis prior to orthodontic treatment. Periodontal disease can cause additional bone loss and make the orthodontic treatment complicated. Reducing the risk of orthodontic treatment in this situation is our major concern. In addition to periodontitis, orthodontic treatment may also cause gingival recession. On the other hand, the alveolar bone defects such as bone fenestration and bone dehiscence are common in some patients without periodontitis. For these patients, we should take more care of the interrelationship between bone defects and orthodontic treatment. This article briefly demonstrates the risk considerations of periodontal supporting tissue in orthodontic therapy focusing on the influence of periodontitis, gingival recession and alveolar bone fenestration and dehiscence.


Assuntos
Perda do Osso Alveolar , Retração Gengival , Periodontite , Procedimentos de Cirurgia Plástica , Técnicas de Movimentação Dentária , Adulto , Retração Gengival/etiologia , Retração Gengival/cirurgia , Humanos , Periodontite/etiologia , Periodontite/cirurgia , Periodonto , Fatores de Risco
20.
Eur Rev Med Pharmacol Sci ; 24(11): 6470-6476, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32572945

RESUMO

OBJECTIVE: Renal injury caused by sepsis is a difficult point in the field of critical care medicine today, which seriously endangers the health of patients. The aim of our paper was to study the role of irisin in the inflammation and apoptosis of renal injury caused by sepsis and its potential mechanism of action. MATERIALS AND METHODS: Lipopolysaccharide (LPS) was utilized to establish an acute kidney injury model. HK-2 cells were divided into 3 groups: control group, LPS group, LPS+irisin group. The expression of TNF-α, IL-1ß, Bcl-2, and Bax were detected using Western blot. Commercial enzyme-linked immunosorbent assay (ELISA) kits were used to detect the levels of TNF-α, IL-6, and IL-1ß in the cell supernatant. The LDH content was detected to observe cell damage. TUNEL staining and flow cytometry were to investigate the apoptosis in three groups. The viability of HK-2 cells was detected using Cell Counting Kit-8 (CCK-8) assay. RESULTS: After HK-2 cells were treated with LPS, the LDH content in the cell supernatant was greatly increased, and the expression of TNF-α, IL-6, and IL-1ß was also significantly increased. However, after treatment with irisin, LDH content and expression of inflammatory factors were significantly suppressed. Similarly, LPS treatment greatly elevated the levels of TNF-α, IL-1ß, Bax, p65 and IκKα, as well as inhibited the expression of Bcl-2 and IκB-α. However, irisin treatment reversed these situations. In addition, the number of TUNEL-positive cells and the apoptotic rate were also greatly decreased in LPS+irisin group compared with those in LPS group. CONCLUSIONS: Irisin could inhibit inflammation and apoptosis of HK-2 cells treated with LPS via the NF-κB pathway.


Assuntos
Injúria Renal Aguda/metabolismo , Fibronectinas/metabolismo , NF-kappa B/metabolismo , Sepse/metabolismo , Injúria Renal Aguda/induzido quimicamente , Injúria Renal Aguda/patologia , Animais , Apoptose/efeitos dos fármacos , Células Cultivadas , Modelos Animais de Doenças , Relação Dose-Resposta a Droga , Humanos , Lipopolissacarídeos , Sepse/induzido quimicamente , Sepse/patologia , Transdução de Sinais
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