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Parkin and <i>LRRK2</i>/Dardarin Mutations in Early Onset Parkinson’s Disease in the Basque Country (Spain)

Journal of Behavioral and Brain Science 2015年第3期5卷 101-108页

作者： J. F. martí Massó J. ruiz-martínez C. Paisán-ruiz A. Gorostidi A. Bergareche A. Lopez de Munain A. Alzualde J. Pérez-Tur Servicio neurologia Hospital Donostia San Sebastián Spain Center for Biomedical Research in neurodegenerative Diseases network (CIBERnED) Spain neurosciences Area Biodonostia Institute San Sebastián Spain Department of neuroscience University of Basque Country UPV-EHU San Sebastián Spain Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York USA Molecular Genetics Unit Instituto de Biomedicina de Valencia-CSIC Valencia Spain

We have performed a complete screening of the Parkin gene (PRKn2) and looked for ***2019Ser (G2019S) and ***1441Gly (R1441G) LRRK2/dardarin gene mutations in twenty seven patients with Parkinson’s disease (PD) with an age at onset younger than 50 years (EOPD), living in Gipuzkoa (Basque Country, Spain). Thirteen of them (48%) were PRKn2 mutation carriers. The c.255-256DelA mutation was the most frequent, followed by a deletion involving exons 3 and 4. A deletion involving exons 3 and 12 of the PRKn2 gene and R1441G LRRK2 mutation was found together in one PD patient. Four out of fourteen PRKn2 negative patients carried the p.G2019S mutation. Both PRKn2 mutation carriers and non-carriers presented frequently with family history (10 PRKn2 mutation carriers and 8 PRKn2 non-carriers);in fact, five patients without a known gene mutation had a first degree relative affected, suggesting another monogenic disease. PRKn2 carriers presented with a younger age at onset (36.7 vs. 41.7) and more benign disease progression. Indeed, those PD patients younger than forty who initially presented with unilateral tremor became shortly bilateral. Relatively, symmetric parkinsonism and slow disease progression carried more frequently PRKn2 mutations than patients with unilateral akinetic rigid parkinsonism and age at onset later than 40 years. As expected in a recessive disease, PRKn2 patients present more often with affected siblings and unaffected patients. The G2019S LRRK2 mutation, less prevalent than R1441G in our area, may be also a frequent cause of PD in EOPD (4 patients).

关键词： Parkin Early Onset Parkinsonism Parkinson’s Disease LRRK2 Dardarin

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Brassinosteroids and Plant Responses to Heavy Metal Stress. An Overview

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Open Journal of Metal 2013年第2期3卷 34-41页

作者： miriam núnez Vázquez Yanelis Reyes Guerrero Lisbel martínez González Walfredo Torres de la noval Department of Plant Physiology and Biochemistry National Institute of Agricultural SciencesSan Joséde las LajasCuba

Soil contamination with heavy metals has become a world-wide problem, leading to the loss in agricultural productivity. Plants have a remarkable ability to take up and accumulate heavy metals from their external environment and it is well known that high levels of heavy metals affect different physiological and metabolic processes. Brassinosteroids are considered as the sixth class of plant hormones and they are essential for plant growth and development. These compounds are able of inducing abiotic stress tolerance in plants. In this paper, information about brassinosteroids and plant responses to heavy metal stress is reviewed.

关键词： Heavy Metal Stress Brassinosteroids Tolerance

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Inflammatory status in human hepatic cirrhosis

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World Journal of Gastroenterology 2015年第41期21卷 11522-11541页

作者： María martínez-Esparza María Tristán-Manzano Antonio J ruiz-Alcaraz Pilar García-Penarrubia Departamento de Bioquímica Biología Molecular (B) e Inmunología Facultad de Medicina IMIB Regional Campus of International Excellence "Campus Mare Nostrum" Universidad de Murcia

This review focuses on new findings about the inflammatory status involved in the development of human liver cirrhosis induced by the two main causes, hepatitis C virus(HCV) infection and chronic alcohol abuse, avoiding results obtained from animal models. When liver is faced to a persistent and/or intense local damage the maintained inflammatory response gives rise to a progressive replacement of normal hepatic tissue by non-functional fibrotic scar. The imbalance between tissue regeneration and fibrosis will determine the outcome toward health recovery or hepatic cirrhosis. In all cases progression toward liver cirrhosis is caused by a dysregulation of mechanisms that govern the balance between activation/homeostasis of the immune system. Detecting differences between the inflammatory status in HCV-induced vs alcoholinduced cirrhosis could be useful to identify specific targets for preventive and therapeutic intervention in each case. Thus, although survival of patients with alcoholic cirrhosis seems to be similar to that of patients with HCV-related cirrhosis(HCV-C), there are important differences in the altered cellular and molecular mechanisms implicated in the progression toward human liver cirrhosis. The predominant features of HCV-C are more related with those that allow viral evasion of the immune defenses, especially although not exclusively, inhibition of interferons secretion, natural killer cells activation and T cell-mediated cytotoxicity. On the contrary, the inflammatory status of alcohol-induced cirrhosis is determined by the combined effect of direct hepatotoxicity of ethanol metabolites and increases of the intestinal permeability, allowing bacteria and bacterial products translocation, into the portal circulation, mesenteric lymph nodes and peritoneal cavity. This phenomenon generates a stronger pro-inflammatory response compared withHCV-related cirrhosis. Hence, therapeutic intervention in HCV-related cirrhosis must be mainly focused to counter

关键词： Inflammation Macrophages Cirrhosis Alcohol Hepatitis C virus Cytokines Liver

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Community‑based screening of Chagas disease among Latin American migrants in a non‑endemic country: an observational study

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Infectious Diseases of Poverty 2021年第5期10卷 14-27页

作者： Violeta Ramos‑Sesma miriam navarro Jara Llenas‑García Concepción Gil‑Anguita Diego Torrus‑Tendero Philip Wikman‑Jorgensen María García‑López Concepción Amador‑Prous María‑Paz Ventero‑martín Pedro Guevara‑Hernández Ana Garijo‑Saiz Ares Sanchez‑Sanchez Cristina Bernal‑Alcaraz Ana‑Isabel Pujades‑Tarraga Roser Muñoz‑Perez María Flores‑Chávez José‑Manuel Ramos‑Rincón Internal Medicine Service HLA Inmaculada HospitalGranadaSpain Public Health Science History and Gynecology DepartmentUniversidad Miguel Hernández de ElcheAlicanteSpain Epidemiology Unit Public Health Center of Elche AlicanteSpain Internal Medicine Department Hospital Vega Baja de Orihuela(AlicanteSpain)-Foundation for the Promotion of Health and Biomedical Research of the Valencia Region(FISABIO)AlicanteSpain Clinical Medicine Department University Miguel Hernández of ElcheSant Joan d’AlacantSpain Internal Medicine Department Hospital Marina BaixaLa Vila Joiosa(AlicanteSpain)-FISABIOAlicanteSpain Internal Medicine Department General University Hospital of Alicante–Biomedical and Health Research Institute of Alicante(ISABIAL)AlicanteSpain Parasitology Area University Miguel Hernández of ElcheSant Joan d’AlacantSpain Internal Medicine Department University Hospital of Sant Joan(Sant Joan d’AlacantSpain)–FISABIOAlicanteSpain Microbiology Service General University Hospital of Alicante–ISABIALAlicanteSpain Pediatric Department General University Hospital of Alicante–ISABIALAlicanteSpain Digestive Service General University Hospital of Alicante–ISABIALAlicanteSpain Reference and Research Laboratory in Parasitology National Center of Microbiology/Mundo Sano FoundationMadridSpain

Background:Chagas disease is a parasitic disease endemic to Latin America,but it has become a disease of global concern due to migration *** carriers may host the parasite for years,without knowing they are *** aim of this study is to assess prevalence of Chagas disease and evaluate the participants’level of knowl‑edge between Latin American migrants attending a community-based screening ***:Three community-based campaigns were performed in Alicante(Spain)in 2016,2017 and 2018,including educational chats and blood tests for Trypanosoma cruzi *** completed a questionnaire assessing knowledge about the mechanisms of transmission,disease presentation,diagnosis,and *** seroposi‑tive for *** underwent diagnostic confrmation by two diferent *** were analyzed by multivariable logistic regression and expressed as adjusted odds ratios(aORs),adjusting for age,sex,and time in ***:A total of 596 participants were included in the study;17%were aged under 18 *** in adults was 11%[54/496;95%confdence interval(CI):8.3–14.5%]versus 0%among *** but one case were in *** was independently associated with having been born in Bolivia(aOR:102,95%CI:13–781)and a primary school-level education(aOR:2.40,95%CI:1.14–5.06).Of 54 people diagnosed with Chagas disease(most of whom were asymptomatic),42(77.7%)returned to the clinic at least once,and 24(44.4%)received *** analysis showed that coming from Argentina(aOR:13,95%CI:1.61–1188)or Bolivia(aOR:1.90,95%CI:1.19–3.39)and having received information about Chagas disease in Spain(aOR:4.63,95%CI:2.54–8.97)were associ‑ated with a good level of knowledge on the *** primary level studies(aOR:0.59,95%CI:0.34–0.98)and coming from Ecuador(aOR:4.63,95%CI:2.52–847)were independently associated with a lower level of ***:Community-based interventions are a good strategy for diagnosi

关键词： Chagas disease Trypanosoma cruzi Knowledge Community-based intervention Migrant Early diagnosis Screening

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Towards neurotoxicity testing in the 22nd century:a vision,a taste or a smell?

Towards neurotoxicity testing in the 22nd century:a vision,a...

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neurotoxicity and neurodegeneration:Local Effect and Global Impact--13th International neurotoxicology Association Meeting & 11th International Symposium on neurobehavioral Methods and Effects in Occupational and Environmental Health

作者： Jordi Llorens Carla Soler-martín Blanca Cutillas Lara Sedó Sandra Saldaa-ruiz Departament de Ciencies Fisiologiques Ⅱ Universitat de Barcelona - IDIBELLHospitalet de LlobregatSpain

The report "Toxicity testing in the 21 century:A vision and a strategy"（nRC,US nAS）,advocates for a toxicity testing strategy that relies on high throughput in vitro tests sensitive to key effects on "toxicity pathw... 详细信息

关键词： Towards neurotoxicity testing in the 22 century:a vision,a taste or a smell

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“Quito municipal schools” cohort study: Baseline results

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Open Journal of Epidemiology 2012年第3期2卷 70-74页

作者： natalia Romero-Sandoval Virginia ruiz Juan Quizanga Ricardo Recalde Efrén Anchali Jaime Falconí Oscar Flores Miguel martín Instituto Superior de Postgrado Facultad de Ciencias Médicas Universidad Central del Ecuador Quito Ecuador Grupos de Investigación de América y Africa Latinas (GRAAL) Barcelona Espana and Quito Ecuador Consultora de UnICEF Quito Ecuador Municipio del Distrito Metropolitano de Quito Quito Ecuador Unidad de Bioestadística Facultad de Medicina Universidad Autónoma de Barcelona Cerdanyola del Vallès Spain

The lack of population-level data on growth and development of children and adolescents in Ecuador, and the existence of previous data suggesting an alarming increase in the numbers of children presenting overweight or obesity justifies the present cohort study which includes all pupils of municipal schools of Quito aged 9 to 17 years. Follow-up will continue for a minimum of 7 years. This will allow determining the evolution of prevalence of these phenomena and their trends as well as other indices, both physiological and family-related customs, in order to plan appropriate preventive interventions. The present cross-sectional study includes 21 municipal schools, grouped into four health zones, each of which depends on a health centre, also municipal, and which are responsible for the health of pupils in these schools. Of the 6964 pupils studied, 18.7% suffer overweight and 7.9% obesity: 19.3% and 9.7% respectively in boys, compared to 18.2% and 5.4% in girls. The study also assesses family characteristics, degree of sedentarism and nutritional habits: 62.3% declared living in a nuclear family, and 60.5% declared their families to be in the “adolescent” life-cycle stage;91.9% of pupils were sedentary while 5.4% (CI95% 4.87 - 5.94) reported not eating breakfast every day.

关键词： Overweight and Obesity Equatorian School Children Sedentarism Type of Family

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Comparison of clinical outcomes between unrelated single umbilical cord blood and"ex-vivo"T-cell depleted haploidentical transplantation in children with hematological malignancies

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World Journal of Pediatrics 2021年第6期17卷 609-618页

作者： Carmen Gomez-Santos marta Gonzalez-Vicent Blanca Molina natalia Deltoro Blanca Herrero Julia ruiz Antonio Perez-martinez Miguel A Diaz Department of Pediatrics Hematopoietic Stem Cell Transplantation UnitHospital Infantil Universitario"Nino Jesus"Menedez Pelayo 6528009 MadridSpain Hospital Infantil Universitario"La Pa"Madrid MadridSpain

Background Over the last two decades,umbilical cord blood(UCB)and haploidentical transplantation(HaploHSCT)have emerged as alternative sources of hematopoietic stem cell for allogeneic *** are few retrospective studies and no prospective studies comparing both types of alternative transplantation in pediatric *** We analyzed the data of 134 children with hematological malignancies who received a hematopoietic stem cell transplantation from a single umbilical cord blood(UCB)(n=42)or an"tex-vivo"T-cell depleted transplant from a haploi-dentical-related donor(HaploHSCT)(n=92)between 1996 and *** recovery was faster after HaploHSCT than the UCB transplant group(median times to neutrophil and platelet recovery:13 vs.16 days,10 vs.57 days,respectively)(Pnificantly early immune reconstitution based on nK and CD8+T cells compared with the UCB ***,after the first year *** had a lower number of CD4+ T and B lymphocytes compared with the UCB transplant *** cumulative incidence of TRM was 29±8%in the HaploHSCT group versus 40±5%in the UCB *** incidence was 21±7%in the HaploHSCT group and 19±8%in the UCB *** of DFS was 58±8%in the HaploHSCT group versus 40±9%in the UCB group(P=0.051).Conclusions TCD haploidentical transplant is associated with advantages in terms of engraftment and early immune reconstitution *** haploidentical transplant was associated with lower incidence of infectious and non-infectious complications,especially in the early phases of the transplant compared with UCB transplant ***,there are no advantages in transplant outcomes compared with UCB transplant.

关键词： Children Cord blood transplant Hematologic malignancies Immune reconstitution TCD haploidentical transplant

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Physicochemical Characteristics of Corriente River, Argentine, Period 1998-2014

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Journal of Geoscience and Environment Protection 2016年第12期4卷 118-125页

作者： Juan Daniel ruiz Díaz Diana Corina Fechner Roxana María Itatí Goyechea Ramón Alberto martínez Francisco Antonio Vazquez Laboratorio de Química Ambiental (LABQUIAM) Facultad de Ciencias Exactas y Naturales y Agrimensura Universidad Nacional del Nordeste Corrientes Argentina

Corriente River is part of the middle Parana basin and it is an inland river of the Corrientes Province of Argentine. This paper studies variation in time of some physicochemical parameters (conductivity, alkalinity, hardness, sulfates and chlorides) measured between 1998 and 2014. The correlations of the data correspond to three fixed stations monitoring. The analysis of results takes into account the influence of the seasonal rainfall patterns regimes as determinants in the natural composition of the water resources studied. Moreover composition of the river has been registered as a valid reference to predict probable changes by human activity.

关键词： Composition Water Resource Characterization Evolution

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Could Low Hdl-Cholesterol Levels Be an Unvalued Predictor of Cancer Risk?: A Retrospective Case Study

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International Journal of Clinical Medicine 2015年第12期6卷 984-992页

作者： Juan Antonio Vílchez natalia Sancho-Rodríguez Ana martínez-ruiz Enrique martínez-Sánchez Francisco ruiz-Espejo Isabel Tovar-Zapata Jose Antonio noguera-Velasco Clinical Analysis Department Virgen de la Arrixaca Clinic University Hospital Murcia Spain Cardiology Department Virgen de la Arrixaca Clinic University Hospital Murcia Spain Laboratorios Unilabs S. L. Murcia Spain

Background: The relationship between serum lipid profile levels and cancer risk remained uncertain. Recently, it had been reported a significant inverse association between high-density lipoprotein cholesterol (HDL) and the risk of incident cancer that was independent of low-density lipoprotein cholesterol (LDL), age or sex. Objective: The aim of our study was to evaluate the behavior of HDL in cancer patients and in healthy population. Methods: We created a retrospectively search strategy in the laboratory information system (LIS). We filtered and searched those patients with CEA within 5 - 20 ng/ml and any value of HDL and corroborated the presence of cancer (Group 1 (G1)) or not (Group 2 (G2)). Moreover, we searched a control group (patients in outpatient oncology clinic) to observe the values of HDL. Comparisons and statistical logistic regression models were applied to link the levels of this biomarkers and cancer risk. Results: We examined 852 valid patients, median age 62 (50 - 73) years. Within the search strategy group, G2 showed highest levels of HDL (54 (43 - 67) mg/dl) and lowest CEA levels (6.7 (5.7 - 8.4) ng/ml) comparing with G1: HDL (47 (37 - 60) mg/dl) and the CEA (7.9 (6.2 - 10.9) ng/ml);p p r2: 0.092;p p = 0.001)] and CEA [OR: 1.115 (1.060 - 1.174), (p nd they were confirmed as independent predictors of cancer. Conclusion: Our findings confirmed the inverse association of HDL levels between healthy populations and were diagnosed with cancer. Moreover, in a random population, patients with cancer presented lower HDL values compared to those without cancer. Therefore, it could demonstrate the possible positive predictive value of low HDL related to cancer risk.

关键词： High-Density Lipoprotein Cholesterol (HDL) Cancer Risk Lipid Profile Carcinoembryonic Antigen (CEA)

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GOECP/SEOR clinical guidelines on radiotherapy for malignant pleural mesothelioma

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World Journal of Clinical Oncology 2021年第8期12卷 581-608页

作者： Javier Luna Andrea Bobo Joaquín José Cabrera-Rodriguez María Pagola Margarita martín-martín María Ángeles González ruiz Miguel Montijano Aurora Rodríguez Lira Pelari-Mici Almudena Corbacho marta Moreno Felipe Couñago Department of Radiation Oncology Institute of OncohealthFundación Jiménez DíazMadrid 28040Spain Department of Radiation Oncology Institution of Ruber Internacional HospitalMadrid 28034Spain Department of Radiation Oncology Hospital Universitario de BadajozBadajoz 06080Spain Department of Radiation Oncology Institution of Onkologikoa/Hospital Universitario DonostiaSan Sebastián 20014Spain Department of Radiation Oncology Institution of Hospital Universitario Ramón y CajalMadrid 28034Spain Department of Radiation Oncology Institution of Hospital Universitario Virgen de la MacarenaSevilla 41009Spain Department of Radiation Oncology Institution of Genesis care SpainMadrid 28005Spain Department of Radiation Oncology Institution of Hospital de MéridaMérida 06800Spain Department of Oncology Institution of University NavarraClinical UniversityPamplona 31008Spain Department of Radiation Oncology Institution of Hospital Universitario Quirónsalud and Hospital LaLuzEuropean University of MadridMadrid 28028Spain

Malignant pleural mesothelioma(MPM)is a rare tumor with poor prognosis and rising *** care is common in MPM as radical treatment with curative intent is often not possible due to metastasis or extensive locoregional *** therapeutic advances have been made in recent years,including the use of less aggressive surgical techniques associated with lower morbidity and mortality(e.g.,pleurectomy/decortication),technological advancements in the field of radiotherapy(intensity-modulated radiotherapy,image-guided radiotherapy,stereotactic body radiotherapy,proton therapy),and developments in systemic therapies(chemotherapy and immunotherapy).These improvements have had as yet only a modest effect on local control and *** in the management of MPM and standardization of care are hampered by the evidence to date,limited by high heterogeneity among studies and small sample *** this clinical guideline prepared by the oncological group for the study of lung cancer of the Spanish Society of Radiation Oncology,we review clinical,histologic,and therapeutic aspects of MPM,with a particular focus on all aspects relating to radiotherapy,including the current evidence base,associations with chemotherapy and surgery,treatment volumes and planning,technological advances,and reradiation.

关键词： Malignant pleural mesothelioma Chemotherapy Surgery Radiotherapy Radiation techniques Reradiation

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