检索结果-南通市图书馆

The Study of Carbamoyl Phosphate Synthetase 1 Deficiency Sheds Light on the Mechanism for Switching On/Off the Urea Cycle

引用

Journal of Genetics and Genomics 2015年第5期42卷 249-260页

作者： Carmen Díez-Fernández José Gallego Johannes H?berle javier cervera Vicente Rubio Institute for Biomedicine of Valencia of the Spanish Research Council Medical School of the Catholic University of Valencia University Children's Hospital Zurich and Children's Research Center Centre for Biomedical Networking Research on Rare Diseases of the Carlos Ⅲ Health Institute

Carbamoyl phosphate synthetase i （CPS1） deficiency （CPS1D） is an inborn error of the urea cycle having autosomal （2q34） recessive inheritance that can cause hyperammonemia and neonatal death or mental retardation. We analyzed the effects on CPS1 activity, kinetic parameters and enzyme stability of missense mutations reported in patients with CPS1 deficiency that map in the 20-kDa C-terminal domain of the enzyme. This domain turns on or off the enzyme depending on whether the essential allosteric activator of CPS 1, N-acetyl- L-glutamate （NAG）, is bound or is not bound to it. To carry out the present studies, we exploited a novel system that allows the expression in vitro and the purification of human CPS1, thus permitting site-directed mutagenesis. These studies have clarified disease causation by individual mutations, identifying functionally important residues, and revealing that a number of mutations decrease the affinity of the enzyme for NAG. Patients with NAG affinity-decreasing mutations might benefit from NAG site saturation therapy with N-carbamyl-L- glutamate （a registered drug, the analog of NAG）. Our results, together with additional present and prior site-directed mutagenesis data for other residues mapping in this domain, suggest an NAG-triggered conformational change in the 134-~4 loop of the C-terminal domain of this enzyme. This change might be an early event in the NAG activation process. Molecular dynamics simulations that were restrained according to the observed effects of the mutations are consistent with this hypothesis, providing further backing for this structurally plausible signaling mechanism by which NAG could trigger urea cycle activation via CPS1.

关键词： Urea cycle diseases Inborn errors Hyperammonemia Site-directed mutagenesis Restrained molecular dynamics Allosteric regulation Carbamoyl phosphate synthetase 1 Enzyme

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Smoking is not associated with nonalcoholic fatty liver disease

引用

World Journal of Gastroenterology 2006年第32期12卷 5196-5200页

作者： Norberto C Chavez-Tapia javier Lizardi-cervera Oliver Perez-Bautista Martha H Ramos-Ostos Misael Uribe Departments of Gastroenterology and Internal Medicine. Medica Sur Clinic and Foundation Mexico City Mexico

AIM： To analyze the relationship between smoking and nonalcoholic fatty liver disease （NAFLD）. METHODS： This is a cross-sectional study of a healthy population, carried out in a check-up unit of a university hospital in Mexico City. We enrolled 933 subjects, 368 current smokers （cases） and 565 persons who had never smoked （controls）. Demographic, metabolic and biochemical variables were measured in the two groups. NAFLD was determined by ultrasound and metabolic syndrome according to ATPⅢ. RESULTS： A total of 548 men （205 cases and 343 controls） and 337 women （114 cases and 223 controls） were included in the analysis. Statistical differences between cases and controls were observed only in high blood pressure prevalence （6.6% vs 11.3%, P〈0.05; cases and controls respectively）, high-density lipoproteins （1.00±0.26 vs 1.06±0.28 mmol/L, P 〈 0.005）, triglycerides （2.18±1.49 vs 1.84±1.1 mmol/L, P〈0.001）, and erythrocyte sedimentation rate （11.3±9.3 vs 13.5±11.9 mm/h, P〈0.001）. No differences were observed in the prevalence of NAFLD （22.27% vs 29.68%, P = NS） and metabolic syndrome （41.69% vs 36.74%, P = NS）. Univariate analysis showed that smoking was not a risk factor for NAFLD （OR = 0.89, 95% CI 0.65-1.21）. CONCLUSION： No differences in NAFLD prevalence were observed between current smokers and nonsmokers, and furthermore, no differences were observed in heavy smokers （more than 20 packs/year）, indicating that there js no relationship between smoking and NAFLD.

关键词： Smoking Nonalcoholic fatty liver disease Metabolic syndrome

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Low phase angle is associated with the development of hepatic encephalopathy in patients with cirrhosis

引用

World Journal of Gastroenterology 2016年第45期22卷 10064-10070页

作者： Astrid Ruiz-Margáin Ricardo Ulises Macías-Rodríguez javier Ampuero Francisco javier Cubero Luis Chi-cervera Silvia L Ríos-Torres Andrés Duarte-Rojo Ángeles Espinosa-Cuevas Manuel Romero-Gómez Aldo Torre Department of Gastroenterology Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán14080 México City México Department of Internal Medicine Ⅲ University Hospital RWTH Aachen52074 Aachen Germany Unit for the Clinical Management of Digestive Diseases Virgen del Rocio-Virgen Macarena University Hospital41009 Sevilla Spain Department of Immunology Complutense University School of Medicine28040 Madrid Spain University of Arkansas for Medical Sciences Little Rock AR 72205 United States Department of Nephrology and Mineral Merabolism Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán México City 14080 México

AIM Evaluate the association between phase angle and the development of hepatic encephalopathy in the longterm follow-up of cirrhotic *** This was a prospective cohort study. Clinical, nutritional and biochemical evaluations were performed. MannWhitney's U and χ2 tests were used as appropriate. Kaplan-Meier curves and Cox proportional Hazards analysis were used to evaluate the prediction and incidence of hepatic *** Two hundred and twenty were included; the most frequent etiology of cirrhosis was hepatitis C infection, 52% of the patients developed hepatic encephalopathy(18.6% covert and 33.3% overt); the main precipitating factors were infections and variceal bleeding. KaplanMeier curves showed a higher proportion of HE in the group with low phase angle(39%) compared to the normal phase angle group(13%)(P = 0.012). Furthermore, creatinine and phase angle remained independently associated to hepatic encephalopathy in the Cox regression multivariate analysis [hazard ratio = 1.80(1.07-3.03)]. CONCLUSION In our cohort of patients low phase angle was associated with an increased incidence of hepatic encephalopathy. Phase angle is a useful nutritional marker that evaluates cachexia and could be used as a part of the integral assessment in patients with cirrhosis.

关键词： Malnutrition Hepatic encephalopathy Phase angle Cachexia Prognosis

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Paracentral acute middle maculopathy after diagnostic cerebral angiography in a patient with a contralateral carotid-cavernous fistula

引用

International Journal of Ophthalmology(English edition) 2022年第11期15卷 1888-1890页

作者： Lidia Remoli Sargues javier Montero Hernández Clara Monferrer Adsuara Nuria Gonzalez Giron Alicia Gracia Garcia Veronica Castro Navarro Enrique cervera Taulet Department of Ophthalmology Consorcio Hospital General Universitario of ValenciaAv.Tres Cruces 2Valencia 46014Spain

Dear Editor, I am Dr. Lidia Remolí Sargues from Consorcio Hospital General Universitario of Valencia. We write to present a case of paracentral acute middle maculopathy(PAMM) in a patient with a contralateral carotid... 详细信息

关键词： cerebral fistula acute

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Optical coherence tomography angiography features in a case of hydroxychloroquine retinopathy

引用

International Journal of Ophthalmology(English edition) 2023年第2期16卷 325-327页

作者： Lidia Remolí-Sargues Clara Monferrer-Adsuara María Luisa Hernández-Garfella Laura Hernández-Bel Verónica Castro-Navarro javier Montero-Hernández Catalina Navarro-Palop Enrique cervera-Taulet Department of Ophthalmology Hospital General Universitario of ValenciaValencia 46014Spain

Dear Editor,Hydroxychloroquine(HCQ)is a drug widely used in the treatment of autoimmune diseases and oncologic disorders,and was even used during a brief period of time for the therapy of COVID-19 disease[1].HCQ retinopathy has a prevalence ranging from 4.3%to 13.8%.However,for a patient with a normal screening examination the risk of developing HCQ retinopathy is very low[2].The American Academy of Ophthalmology recommended visual field(VF)and optical coherence tomography(OCT)for the screening,whereas the Royal College of Ophthalmologists advised the use of OCT and fundus autofluorescence(FAF)[2-3].

关键词： retinopathy Ophthal diseases

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

建筑学的仿生结构——西班牙皮奥斯和塞尔维拉的五个作品及五项原则

引用

时代建筑 2006年第2期49卷 142-151页

作者：哈韦尔.皮奥斯罗莎.塞尔维拉 cervera & PIOZ建筑设计有限公司(C&P)

西班牙建筑师哈韦尔·皮奥斯(javier Pioz)和罗莎·塞尔维拉(Rosa cervera)是“建筑学与仿生工程学(Architecture & BioniC Engineering)”这一新理论的先驱和倡导者, 通过学习存在于自然界的柔软性和适应性规律,运用于建筑创新的实践... 详细信息

西班牙建筑师哈韦尔·皮奥斯(javier Pioz)和罗莎·塞尔维拉(Rosa cervera)是“建筑学与仿生工程学(Architecture & BioniC Engineering)”这一新理论的先驱和倡导者, 通过学习存在于自然界的柔软性和适应性规律,运用于建筑创新的实践中。文章简要介绍了塞尔维拉和皮奥斯(cervera&Pioz) 的五个设计作品和五项主要设计原则,主要阐述作者如何从探索自然的过程中得到启发并将灵感融入建筑设计,从而形成了一种独特、优美的建筑新里程碑——“建筑学的仿生结构(Architectural BioStructure)”。

关键词：哈韦尔·皮奥斯罗莎·塞尔维拉建筑学仿生工程学学习自然

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Post-Hospital Syndrome and Hyponatremia

引用

Health 2021年第8期13卷 846-856页

作者： José Bellod-Tonda Julio Blázquez-Encinar María Dolores Jover-Ríos Carmen Seguí-Pérez Juan Méndez-Mora Francisco Caparrós-Hernández Álex Méndez-Jover Marc Seguí-Pérez David Baláž Leticia Espinosa del Barrio Jesús Corbacho-Redondo Carles García-cervera Juan Manuel Núñez-Cruz Isidro Hernández-Isasi javier Guzmán-Martínez Angie Gómez-Uranga Pedro Esteve-Atiénzar Jorge Peris-García Veronica Martínez-Sempere Eliana Damonte-White Óscar Hernando Ruiz-Ariza Juan Carlos López-Corbalán Lourdes Lajara-Villar Andrea Riaño-Pérez Paloma Chazarra-Pérez María Escamilla-Espínola Maria Luisa Asensio-Tomás Miguel Ángel Auladell-Alemany Laura Serna-Torres Asunción Pérez-Fullana Amparo Gómez-Siurana Sergio Menargues-Irles José Miguel Seguí-Ripoll Internal Medicine Department University Hospital of San Juan Alicante Spain Internal Medicine Department Torrevieja University Hospital Alicante Spain Internal Medicine Department Hospital La Vega Baja of Orihuela Alicante Spain CEU Cardinal Herrera University Veterinary Hospital Valencia Spain Secondary School Marist Brothers High School Alicante Spain Department of Clinical Medicine Miguel Hernández University Elche Spain Primary Care Medicine Benilloba Spain Sub-Delegation of the Government Alicante Spain Chemical Engineering Department University of Alicante Alicante Spain

Introduction: Post-hospital syndrome (PHS) is defined as a period of vulnerability during the first 30 days after a patient is discharged from hospital, in which multiple factors come into play. Hyponatremia is the most frequent hydroelectrolytic disorder in hospitalized patients and may be related to the appearance of PHS. Objective: The objective is to estimate the prevalence of PHS that is assessed as the rate of readmissions in the first 30 days after discharge, in patients with hyponatremia. Material and Methods: It is a descriptive observational study of patients with hyponatremia who were discharged from 1 September 2010 to 2 February 2020 at the Internal Medicine Service of the Hospital University of San Juan (Alicante, Spain). Results: Of the 25 included patients, 5 (20%) were readmitted within a month of discharge, after a mean of 11.4 days (standard deviation [SD] 5.1). The overall mortality of the study was 20% (n = 5), with one case of death in the first 30 days post-hospitalization (4%). In 12 patients (48%) the origin of the hyponatremia was undetermined. The most frequently recorded etiology for the condition was pharmacological (n = 7, 28%), and there was pronounced variability in its clinical and laboratory study. The most widely used corrective measure was drug withdrawal, in 16 patients (64%). Water intake restriction was the most common treatment after discharge (5 patients, 20%), followed by urea (2 patients, 8%), while tolvaptan was not used. Conclusion: Hyponatremia may be the cause of PHS, which could increase the rate of early readmission. Hyponatremia is an underdiagnosed and undertreated entity, so it is necessary to apply an appropriate system to optimize its management and, in future studies, to assess its impact on PHS.

关键词： Hospitalization Hyponatremia Patient Readmission Inappropriate ADH Syndrome

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：