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Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism

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世界最新医学信息文摘 2015年第5期 6-6页

作者： Philippe Couarch Santiago Vernia Isabelle Gourfinkel-An Ga tan Lesca Svetlana Gataullina Estelle Fedirko Oriane Trouillard Christel Depienne Olivier Dulac Dominique Steschenko Eric Leguern Pascual sanz Stéphanie Baulac

Lafora disease is a fatal autosomal recessive formof progressive myoclonus epilepsy. Patients manifest myoclonus and tonic–clonic seizures, visual hallucinations, intellectual, and progressive neurologic deterioration beginning in *** two genes known to be involved in Lafora disease are EPM2 A and NHLRC1(EPM2B). The EPM2 A gene encodes laforin,a dual-specificity protein phosphatase, and the NHLRC1 gene encodes malin, an E3-ubiquitin ligase. The two proteins interact with each other and, as a complex, are thought to regulate glycogen synthesis. Here, we report three Lafora families with two novel pathogenic mutations(C46Y and L261P) and two recurrent mutations(P69A and D146N) in NHLRC1. Investigation of their functional consequences in cultured mammalian cells revealed that malin C46 Y, malin P69 A, malin D146 N, and malin L261 P mutants failed to downregulate the level of R5/PTG, a regulatory subunit of protein phosphatase 1 involved in glycogen synthesis. Abnormal accumulation of intracellular glycogen was observed with all malin mutants, reminiscent of the polyglucosan inclusions(Lafora bodies) present in patients with Lafora disease.

关键词： Epilepsy Mendelian disorder Genetics Autosomal recessive

Post-Hospital Syndrome and Hyponatremia

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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

Crohn病的肠壁炎症:MR影像表现与组织病理对照分析

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国际医学放射学杂志 2009年第6期 574-574页

作者： S.Punwani M.R.justo A.Bainbridge R.Greenhalgh E.D.Vita S.Bloom 苏晨 Department of Specialist X Ray University College London Hospitals National Health Service FoundationTrust235 Euston RdPodium Level 2London NW1 2BUEngland

目的对Crohn病活动期的MRI征象进行组织病学证实。材料与方法本研究经英国伦敦大学医院伦理委会批准,所有病人均签署知情同意书。18例Crohn病病人期行小肠切除术之前均行MRI检查,分别记录Harvey-Bradshaw指数、C反应蛋白水平和疾病的进程。

关键词：脂肪抑制活动期征象 Crohn MR 信号强度

Endophytic bacteria in grass crop growth promotion and biostimulation

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Grass Research 2021年第1期1卷 33-41页

作者： James F.White Xiaoqian Chang Kathryn L.Kingsley Qiuwei Zhang Peerapol Chiaranunt April Micci Fernando Velazquez Matthew Elmore Sharron Crane Shanjia Li Jiaxin Lu María Carmen Molina Natalia González-Benítez Miguel J.Beltrán-garcía Kurt P.Kowalski Department of Plant Biology Rutgers UniversityNew BrunswickNew Jersey 08901USA Department of Biochemistry and Microbiology Rutgers UniversityNew BrunswickNew Jersey 08901USA Department of Bioengineering Lanzhou University of TechnologyLanzhou 730050P.R.China College of Agro-grassland Science Nanjing Agricultural UniversityNanjing 210095P.R.China Department of Biology GeologyApplied Physics and Inorganic ChemistryKing Juan Carlos UniversityMadrid 28032Spain Department of Biotechnology and Environmental Sciences Autonomous University of GuadalajaraGuadalajara 45140Mexico U.S.Geological Survey Great Lakes Science CenterAnn ArborMichigan 48105USA.

Plants naturally carry microbes on seeds and within seeds that may facilitate development and early survival of *** crops have lost seed-vectored microbes in the process of domestication or during seed storage and seed *** microbes from wild plants were used by pre-modern cultures to re-acquire beneficial seed *** some companies have developed or are developing the use of microbes obtained from soils or plant sources to stimulate plant development and *** of these biostimulant microbes are endophytic in *** products also include humic substances,which appear to function as signal molecules in plants,triggering increased internalization of soil microbes into root cells and *** addition,protein coatings on seeds fuel the growth of seed surface-vectored microbes,increasing microbial activity around and within *** this article,we provide evidence of the endophytic nature of many biostimulant microbes,and suggest that many of the beneficial effects of microbial biostimulants stem from their action as endophytes or as participants or stimulants of rhizophagy cycle activity.

关键词： crops soil promotion

Nat Genet:科学家设计新方法找到抑制癌症发育的新基因

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现代生物医学进展 2017年第15期17卷 I0004-I0004页

作者： Jorge de la Rosa, Mathias Josef Friedrich, Yilong Li, Lena Rad, Hannes Ponstingl, Qi Liang, Sandra Bernaldo de Quirós, Imran Noorani, Emmanouil Metzakopian, Alexander Strong, Meng Amy Li, Gary J Hoffman, Rocío Fuente, George S Vassiliou, Roland Rad, Allan Bradley Juan Cadiñanos Jorge de la Rosa Juan Cadiñanos Jorge de la Rosa Carlos López-Otín Julia Weber Roland Rad Julia Weber Roland Rad Aurora Astudillo María Teresa Fernández-garcía María Soledad Fernández-garcía Gary J Hoffman Carlos López-Otín The Wellcome Trust Sanger Institute Wellcome Trust Genome Campus Hinxton UK Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA) Oviedo Spain Departamento de Bioquímica y Biología Molecular Facultad de Medicina Instituto Universitario de Oncología (IUOPA) Universidad de Oviedo Oviedo Spain Department of Internal Medicine II Klinikum rechts der Isar Technische Universität München München Germany German Cancer Consortium (DKTK) German Cancer Research Center (DKFZ) Heidelberg Germany Servicio de Anatomía Patológica Hospital Universitario Central de Asturias Oviedo Spain Unidad de Histopatología Molecular Facultad de Medicina IUOPA Universidad de Oviedo Oviedo Spain School of Medicine University of Western Australia Crawley Western Australia Australia Centro de Investigación Biomédica en Red de Cáncer Spain.

英国桑格研究院的研究人员和他们的合作者们最近发现了帮助阻止前列腺癌、皮肤癌和乳腺癌发育的新基因。这些基因能够与众所周知的肿瘤抑制基因PTEN配合发挥作用，该研究还发现这些基因与人类前列腺肿瘤存在相关性。相关研究结果发表在... 详细信息

英国桑格研究院的研究人员和他们的合作者们最近发现了帮助阻止前列腺癌、皮肤癌和乳腺癌发育的新基因。这些基因能够与众所周知的肿瘤抑制基因PTEN配合发挥作用，该研究还发现这些基因与人类前列腺肿瘤存在相关性。相关研究结果发表在国际学术期刊Nature Genetics上。该研究揭示了一些参与癌症发育的新途径，这些基因有望成为治疗PTEN突变癌症的新药物靶点。这项研究开发的一些方法也可以用于发现其他协同抑制癌症生长的基因。

关键词：新基因癌症发育 Nat 科学家设计肿瘤抑制基因国际学术期刊

Effectiveness of an intervention for reducing social stigma towards mental illness in adolescents

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World Journal of Psychiatry 2016年第2期6卷 239-247页

作者： Regina Vila-Badia Francisco Martínez-Zambrano Otilia Arenas Emma Casas-Anguera Esther garcía-Morales Raúl Villellas José Ramón Martín María Belén Pérez-Franco Tamara Valduciel Diana Casellas Mar garcía-Franco Jose Miguel Joaquim Balsera Gemma Pascual Eugènia Julia Susana Ochoa Parc Sanitari Sant Joan de Déu CIBERSAM

AIM: To evaluate the effectiveness of an intervention for reducing social stigma towards mental illness in adolescents. The effect of gender and knowledge of someone with mental illness was measured. METHODS: Two hundred and eighty secondary school students were evaluated using the Community Attitudes towards Mental Illness(CAMI) questionnaire. The schools were randomized and some received the intervention and others acted as the control group. The programme consisted of providing information via a documentary film and of contact with healthcare staff in order to reduce the social stigma within the school environment. RESULTS: The intervention was effective in reducing the CAMI authoritarianism and social restrictiveness subscales. The intervention showed significant changes in girls in terms of authoritarianism and social restrictiveness, while boys only showed significant changes in authoritarianism. Following the intervention, a significant reduction was found in authoritarianism and social restrictiveness in those who knew someone with mental illness, and only in authoritarianism in those who did not know anyone with mental illness. CONCLUSION: The intervention was effective to reduce social stigma towards people with mental illness, especially in the area of authoritarianism. Some differences were found depending on gender and whether or not the subjects knew someone with mental illness.

关键词： Social stigma Adolescent Mental illness Intervention studies Prevention

Study and Characterization of （KxSr1-x）CrOz, x = 0.10-0.50System

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材料科学与工程（中英文B版） 2018年第4期8卷 150-160页

作者： Gustavo Antonio Jiménez-garcía Elizabeth Chavira Jesús Arenas Adriana Tejeda Karla Eriseth MoralesReyes Josué Esaú Romero-Ibarra Jorge Barreto Institute of Materials Research National Autonomous University of Mexico Mexico City 04510 Mexico Faculty of Chemistry National Autonomous University of Mexico Mexico City 04510 Mexico Institute of Physics National Autonomous University of Mexico Mexico City 04510 Mexico

Studies of thermodynamic, electric and magnetic properties were conducted on the （KxSr1-x）CrOz, x = 0.10, 0.15 and 0.50system; adjusted for different crystal sizes （polycrystalline, nano-crystalline and single crystals）. For polycrystals, a solid-statereaction method was used （room temperature, TR, up to 665 °C）. Nano-crystals, a crushing technique with a mechanical mortar wereprocessed at TR. Single crystals were acquired, through fusion method starting from polycrystals pre-manufactured （665 °C） over900 °C. For the methods described above, they all were worked at atmospheric pressure. Studying the thermodynamic in the crystalsmixture were obtained by TGA （thermogravimetric analysis） and DSC （differential scanning calorimetry）. Powder XRD （X-raydiffraction） in the manual grinding mixture a SrCO3 solid solution, at TR was detected. When increasing the temperature, a solidsolution of K2Sr（CrO4）2 is formed. By HRTEM （high-resolution transmission electronic microscope）, crystal sizes 4-12 nm were seen.（K0.50Sr0.50）CrOz composition presents a weak ferromagnetic and an insulating behavior.

关键词： Solid-state reaction solid solutions TGA-DSC XRD HRTEM magnetic behavior

Development of a Module for Measuring Electrical Variables in Power Transformers Based in IoT,to Manage and Monitoring by Telemetry Mechanism

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Journal on Internet of Things 2021年第2期3卷 53-63页

作者： Jesus Hamilton Ortiz Javier Ferney Castillo garcía Osamah Ibrahim Khalaf Fernando Velez Varela Pedro Jefferson Barragan Baron Jhon Hadder Guzmán Atehortúa Closemobile R&D Madrid28031Spain Universidad Santiago de Cali Cali760033Spain Al-Nahrain University Baghdad10072Iraq

This work shows the development of a module that performs measurements of electrical variables in a low voltage power *** variables are sent by means of the IEEE802.11 standard,connecting to a database stored in the cloud;associating with the meter IoT concepts,this to allow a client to perform an analysis,monitoring and management of their electrical *** the construction of this module,non-invasive current sensors connected to a three-phase meter are used and a communication card is used that allows data to be extracted from the meter and sent to the cloud *** module,to convert a conventional electrical power transformer into a smart electrical power transformer,making it a Smart Object and thus extract information from it telemetrically in real time.

关键词： Smart electric power measurement IoT testbed

肠壁Crohn病:动态增强MR成像与组织学血管生成、炎症的相关性——初步研究

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国际医学放射学杂志 2009年第4期32卷 379-379页

作者： S.A.Taylor S.Punwani M.Rodriguez-justo A.Bainbridge R.Greenhalgh E.De Vita 龙淼淼 Department of Specialist Radiology University College London Hospitals National Health Service Foundation Trust

目的采用动态增强MRI评估Corohn病的肠壁灌注动力学改变，并与炎症、血管生成的组织病理学指标进行相关分析。方法本研究经伦敦大学医院伦理委员会批准．所有参加者均知情同意。2006年7月-2007年12月，连续11例行选择性小肠切除的Crohn... 详细信息

目的采用动态增强MRI评估Corohn病的肠壁灌注动力学改变，并与炎症、血管生成的组织病理学指标进行相关分析。方法本研究经伦敦大学医院伦理委员会批准．所有参加者均知情同意。2006年7月-2007年12月，连续11例行选择性小肠切除的Crohn病人（女性8例，男性3例：年龄16．4-66．6岁，平均39．5岁）纳入本研究。记录Harvev—Bradshaw指数、C反应蛋白水平和疾病慢性史（chronicity）。术前对拟切除的肠管进行动态增强MRI检查，计算受累肠段的增强斜率、达峰时间、强化率、通透系数、

关键词：动态增强MRI Crohn病血管生成组织学 MR成像肠壁炎症医院伦理委员会

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