29 results match your criteria: "Unidad de Nutrición Clínica y Dietética. Instituto de Investigación Hospital La Paz (IdiPAZ).[Affiliation]"

X-chromosome-wide association study for Alzheimer's disease.

Mol Psychiatry

December 2024

Univ. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, LabEx DISTALZ - U1167-RID-AGE Facteurs de Risque et Déterminants Moléculaires des Maladies Liées au Vieillissement, Lille, France.

Article Synopsis
  • A study was conducted to investigate the X-chromosome's role in Alzheimer's Disease (AD), which had been overlooked in previous genome-wide association studies.
  • The research included 115,841 AD cases and 613,671 controls, considering different X-chromosome inactivation (XCI) states in females.
  • While no strong genetic risk factors for AD were found on the X-chromosome, seven significant loci were identified, suggesting areas for future research.
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Interleukin-6 as a prognostic marker in acute kidney injury and its klotho-dependent regulation.

Nefrologia (Engl Ed)

December 2024

Laboratorio Traslacional Cardiorrenal, Instituto de Investigación Imas12, Hospital Universitario 12 de Octubre, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares CIBER-CV, Hospital Universitario 12 de Octubre, Madrid, Spain; Departamento de Fisiología, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, Spain. Electronic address:

Background And Objective: In acute kidney injury (AKI), a strong inflammatory component is activated in response to the renal damage, and one of the main mediators behind this process is the pro-inflammatory interleukin 6 or IL-6. Beside to this phenomenon, there are also alterations in different components of mineral metabolism, such as those dependent on fibroblast growth factor (FGF)23 and the anti-ageing cofactor klotho. The aim of this work was to explore the association between renal function and systemic levels of IL-6, as well as FGF23 and klotho in the early stages of AKI, analysing the predictive capacity of IL-6 in early mortality associated with AKI.

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Background: Alzheimer's disease (AD) has a high heritable component characteristic of complex diseases, yet many of the genetic risk factors remain unknown. We combined genome-wide association studies (GWAS) on amyloid endophenotypes measured in cerebrospinal fluid (CSF) and positron emission tomography (PET) as surrogates of amyloid pathology, which may be helpful to understand the underlying biology of the disease.

Methods: We performed a meta-analysis of GWAS of CSF Aβ42 and PET measures combining six independent cohorts (n=2,076).

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Introduction: Dementia is a multifactorial disease with Alzheimer's disease (AD) and vascular dementia (VaD) pathologies making the largest contributions. Yet, most genome-wide association studies (GWAS) focus on AD.

Methods: We conducted a GWAS of all-cause dementia (ACD) and examined the genetic overlap with VaD.

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Consensus document of the Spanish Society of Paediatric Infectious Diseases (SEIP) and the Spanish Society of Paediatric Intensive Care (SECIP) for the diagnosis and treatment of central venous catheter-related infections in paediatric care.

An Pediatr (Engl Ed)

June 2024

Sección de Enfermedades Infecciosas Pediátricas, Servicio de Pediatría, Hospital General Universitario Gregorio Marañón, Instituto de Investigación Sanitaria Gregorio Marañón (IiSGM), Centro de Investigación Biomédica en Red de Enfermedades Infecciosas (CIBERINFEC), Madrid, Spain.

Intravascular devices are essential for the diagnostic and therapeutic approach to multiple diseases in paediatrics, and central venous catheters (CVCs) are especially important. One of the most frequent complications is the infection of these devices, which is associated with a high morbidity and mortality. These infections are highly complex, requiring the use of substantial resources, both for their diagnosis and treatment, and affect vulnerable paediatric patients admitted to high-complexity units more frequently.

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Violence as a Health Problem.

An Pediatr (Engl Ed)

March 2024

Consulta de Pediatría Social, Hospital Universitario Fundación Alcorcón, Alcorcón, Madrid, Spain. Electronic address:

Violence is a public health problem, and when it affects childhood, it can cause illness throughout the individual's life. Apart from being able to cause damage in the physical, mental and social spheres, it represents a violation of the rights of the affected children, and a high consumption of resources, both economic and social. A multitude of investigations have improved attention to this violence.

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Article Synopsis
  • Scientists studied over 176,000 people to see how certain genes might protect against Parkinson's disease (PD) and Alzheimer's disease (AD).
  • They found that specific types of a gene called HLA could help reduce the risk of these diseases and lower harmful proteins in the brain.
  • This suggests that our immune system might help protect us from PD and AD, which could lead to new treatments in the future.
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Objective: The aim of this study was to analyze the relationship between HDL-cholesterol and the risk of SARS-CoV-2 infection in over 75-year-olds residing in the Community of Madrid.

Methods: Study of a population-based cohort, composed of all residents in Madrid (Spain) born before January 1, 1945 and alive on December 31, 2019. Demographic, clinical and analytical data were obtained from primary care electronic medical records from January 2015.

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Article Synopsis
  • mLOY (mosaic loss of chromosome Y) is linked to aging and has associations with Alzheimer's disease (AD), but its influence can be misinterpreted due to age factors in studies.
  • Using Mendelian randomization, researchers created a polygenic risk score (mloy-PRS) that accounts for age, revealing a significant increase in mLOY risk that is independent of age.
  • Results indicate that higher genetic risk for mLOY correlates with quicker AD progression in men with mild cognitive impairment, while showing no impact on women, and suggesting mLOY plays a role in the development of AD.
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Germline and tumor testing constitutes a valuable tool for clinical decision-making in the management of epithelial ovarian cancer (EOC) patients. Tissue testing is able to identify both germline (g) and somatic (s) variants, but tissue preservation methods and the widespread implementation of NGS represent pre-analytical and analytical challenges that need to be managed. This study was carried out on a multicenter prospective GEICO cohort of EOC patients with known status in order to determine the inter-laboratory reproducibility of tissue testing.

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Scarce evidence exists about the best treatment for multi-system inflammatory syndrome (MIS-C). We analyzed the effects of steroids, intravenous immunoglobulin (IVIG), and their combination on the probability of discharge over time, the probability of switching to second-line treatment over time, and the persistence of fever 2 days after treatment. We did a retrospective study to investigate the effect of different treatments on children with MIS-C from 1 March 2020 to 1 June 2021.

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Objective: Various studies have identified factors associated with risk of mortality in patients with SARS-CoV-2 infection. However, their sample size has often been limited and their results partially contradictory. This study evaluated factors associated with COVID-19 mortality in the population of Madrid over 75 years of age, in infected patients, and in hospitalized patients up to January 2021.

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Specialized proresolving mediators and, in particular, 5(S), (6)R, 7-trihydroxyheptanoic acid methyl ester (BML-111) emerge as new therapeutic tools to prevent cardiac dysfunction and deleterious cardiac damage associated with myocarditis progression. The cardioprotective role of BML-111 is mainly caused by the prevention of increased oxidative stress and nuclear factor erythroid-derived 2-like 2 (NRF2) down-regulation induced by myocarditis. At the molecular level, BML-111 activates NRF2 signaling, which prevents sarcoplasmic reticulum-adenosine triphosphatase 2A down-regulation and Ca mishandling, and attenuates the cardiac dysfunction and tissue damage induced by myocarditis.

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Objective: Various studies have identified factors associated with risk of mortality in patients with SARS-CoV-2 infection. However, their sample size has often been limited and their results partially contradictory. This study evaluated factors associated with COVID-19 mortality in the population of Madrid over 75 years of age, in infected patients, and in hospitalized patients up to January 2021.

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Article Synopsis
  • - The study aimed to compare the effectiveness of oral saliva swab (OSS) RT-PCR testing for SARS-CoV-2 against traditional nasopharyngeal swabs (NPS) and rapid antigen tests in children showing COVID-19 symptoms.
  • - Conducted across 10 hospitals in Spain, the research involved 1,174 children aged 0 to 18, with results indicating that OSS RT-PCR has a sensitivity of 72.1% and a specificity of 99.6%, making it a reliable testing method.
  • - The findings suggest that using OSS for COVID-19 testing in children could be a less invasive and therefore more acceptable method, potentially leading to increased testing rates among younger patients.
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Article Synopsis
  • The APOE ε2 and ε4 alleles are well-known genetic variants linked to Alzheimer’s Disease (AD), but the specific roles of apoE protein and rare genetic variants in AD risk are not fully understood.
  • The study aims to find connections between rare missense variants in the APOE gene and the risk of developing AD.
  • It involved analyzing a large sample of participants across multiple cohorts, including a significant number with and without AD, to assess the relationship between these variants and AD risk through established statistical methods.
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New insights into the genetic etiology of Alzheimer's disease and related dementias.

Nat Genet

April 2022

Université de Lille, INSERM, CHU Lille, Institut Pasteur Lille, U1167-RID-AGE, Facteurs de risque et déterminants moléculaires des maladies liées au vieillissement, Lille, France.

Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis.

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Background: Previous studies comparing immigrant ethnic groups and native patients with IBD have yielded clinical and phenotypic differences. To date, no study has focused on the immigrant IBD population in Spain.

Methods: Prospective, observational, multicenter study comparing cohorts of IBD patients from ENEIDA-registry who were born outside Spain with a cohort of native patients.

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Objective: The aim of this study was to analyze the relationship between HDL-cholesterol and the risk of SARS-CoV-2 infection in over 75-year-olds residing in the Community of Madrid.

Methods: Study of a population-based cohort, composed of all residents in Madrid (Spain) born before January 1, 1945 and alive on December 31, 2019. Demographic, clinical and analytical data were obtained from primary care electronic medical records from January 2015.

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CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country.

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Emerging studies have suggested several chromosomal regions as potential host genetic factors involved in the susceptibility to SARS-CoV-2 infection and disease outcome. We nested a COVID-19 genome-wide association study using the GR@ACE/DEGESCO study, searching for susceptibility factors associated with COVID-19 disease. To this end, we compared 221 COVID-19 confirmed cases with 17,035 individuals in whom the COVID-19 disease status was unknown.

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Nutrition education (NE), as part of the treatment of eating disorders (EDs), plays a crucial role in helping patients to change their food attitudes and routines, lose fears, and recover a healthy eating pattern. All these changes may contribute to improving their nutritional status. However, there is a lack of consensus and standardization concerning the procedures to teach it.

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Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.

Nat Commun

June 2021

Research Center and Memory clinic Fundació ACE, Institut Català de Neurociències Aplicades, Universitat Internacional de Catalunya, Barcelona, Spain.

Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer's disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene).

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Long runs of homozygosity are associated with Alzheimer's disease.

Transl Psychiatry

February 2021

Research Center and Memory clinic Fundació ACE. Institut Català de Neurociències Aplicades, Universitat Internacional de Catalunya, Barcelona, Spain.

Long runs of homozygosity (ROH) are contiguous stretches of homozygous genotypes, which are a footprint of inbreeding and recessive inheritance. The presence of recessive loci is suggested for Alzheimer's disease (AD); however, their search has been poorly assessed to date. To investigate homozygosity in AD, here we performed a fine-scale ROH analysis using 10 independent cohorts of European ancestry (11,919 AD cases and 9181 controls.

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