318 results match your criteria: "Hospital Del Mar Research Institute IMIM[Affiliation]"

Cancer and cancer therapies are a major factor risk for osteoporosis due to bone loss and deterioration of bone microarchitecture. Both factors contribute to a decrease in bone strength and, consequently, increased bone fragility and risk of fracture. Cancer-associated bone loss is a multifactorial process, and optimal interdisciplinary management of skeletal health, accurate assessment of bone density, and early diagnosis are essential when making decisions aimed at reducing bone loss and fracture risk in patients who have received or are receiving treatment for cancer.

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Background: In France, screening for cardiovascular risk factors is recommended during annual preventive visits. However, data are lacking on the temporal trend in women's uptake to preventive care services, and in cardiovascular and mortality outcomes The aim of the study was to investigate the participation and mortality of women in annual preventive care services in a major preventive medicine center in France.

Method: Ee conducted repeated cross-sectional studies including a total of 366,270 individuals who had a first examination at the Centre d'Investigations Préventives et Cliniques, France, between January 1992 and December 2011.

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Outcomes and molecular profile of oligomonocytic CMML support its consideration as the first stage in the CMML continuum.

Blood Adv

July 2022

Laboratori de Citologia Hematològica, Servei de Patologia, Grup de Recerca Translacional en Neoplàsies Hematològiques (GRETNHE), Hospital del Mar Research Institute (IMIM), Barcelona, Spain.

Patients with oligomonocytic chronic myelomonocytic leukemia (OM-CMML) are currently classified according to the 2017 World Health Organization myelodysplastic syndromes classification. However, recent data support considering OM-CMML as a specific subtype of chronic myelomonocytic leukemia (CMML), given their similar clinical, genomic, and immunophenotypic profiles. The main purpose of our study was to provide survival outcome data of a well-annotated series of 42 patients with OM-CMML and to compare them to 162 patients with CMML, 120 with dysplastic type (D-CMML), and 42 with proliferative type (P-CMML).

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Informal Employment, Working Conditions, and Self-Perceived Health in 3098 Peruvian Urban Workers.

Int J Environ Res Public Health

May 2022

Center for Research in Occupational Health (CiSAL), University Pompeu Fabra, Edificio PRBB, Doctor Aiguader, 88, 08003 Barcelona, Spain.

Peru has one of the highest informal employment rates in Latin America (73%). Previous studies have shown a higher prevalence of poor self-perceived health (P-SPH) in informal than in formal workers. The aim of this study was to analyze the role of working conditions in the association between informality and SPH in an urban working population in Peru.

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Objective: Our objective was to evaluate the cost-effectiveness of the use of peripherally inserted central venous catheters (PICCs) by a vascular access team (VAT) versus central venous catheters (CVCs) for in-hospital total parenteral nutrition (TPN).

Methods: The study used a cost-effectiveness analysis based on observational data retrospectively obtained from electronic medical records from 2018 to 2019 in a teaching hospital. We included all interventional procedures requiring PICCs or CVCs with the indication of TPN.

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Objective: An altered gut microbiota has been associated with insulin resistance, a metabolic dysfunction consisting of cellular insulin signaling impairment. The aim of the present study is to determine the taxonomic and functional fecal microbiota signatures associated with HOMA-IR index in a population with high cardiovascular risk.

Methods: A total of 279 non-diabetic individuals (55-75 years aged) with overweight/obesity and metabolic syndrome were stratified according to tertiles of HOMA-IR index.

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Background And Aims: Previous studies have shown beneficial associations between fruit and vegetable (FV) consumption and cardiometabolic risk factors. However, variety in FV, which may play an important role on cardiovascular health due to the different nutrient and phytochemical content among the different groups and subgroups of FV has been poorly investigated. We longitudinally investigated associations between 1-year changes in variety and quantity of FV and concurrent changes in cardiometabolic risk factors in elderly subjects with overweight/obesity and metabolic syndrome.

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Aims: This study aimed to evaluate the association between physical activity and the incidence of coronary heart disease (CHD) in individuals with and without CHD risk factors.

Methods And Results: EPIC-CVD is a case-cohort study of 29 333 participants that included 13 582 incident CHD cases and a randomly selected sub-cohort nested within the European Prospective Investigation into Cancer and Nutrition (EPIC) cohort. Self-reported physical activity was summarized using the Cambridge physical activity index (inactive, moderately inactive, moderately active, and active).

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Purpose: To assess the association between three different a priori dietary patterns adherence (17-item energy reduced-Mediterranean Diet (MedDiet), Trichopoulou-MedDiet and Dietary Approach to Stop Hypertension (DASH)), as well as the Protein Diet Score and kidney function decline after one year of follow-up in elderly individuals with overweight/obesity and metabolic syndrome (MetS).

Methods: We prospectively analyzed 5675 participants (55-75 years) from the PREDIMED-Plus study. At baseline and at one year, we evaluated the creatinine-based estimated glomerular filtration rate (eGFR) and food-frequency questionnaires-derived dietary scores.

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Unlabelled: Metabolic reprogramming is a hallmark of malignant transformation, and loss of isozyme diversity (LID) contributes to this process. Isozymes are distinct proteins that catalyze the same enzymatic reaction but can have different kinetic characteristics, subcellular localization, and tissue specificity. Cancer-dominant isozymes that catalyze rate-limiting reactions in critical metabolic processes represent potential therapeutic targets.

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Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays thanks to the wide adoption of next-generation sequencing. However, many cases remain undiagnosed even after exome or genome analysis, because the methods used missed the molecular cause in a known gene, or a novel causative gene could not be identified and/or confirmed. To address these challenges, the RD-Connect Genome-Phenome Analysis Platform (GPAP) facilitates the collation, discovery, sharing, and analysis of standardized genome-phenome data within a collaborative environment.

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Sociodemographic determinants of change in cardiovascular health in middle adulthood in a bi-racial cohort.

Atherosclerosis

April 2022

AP-HP, Georges Pompidou European Hospital, Cardiology Department, Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine, Paris, France. Electronic address:

Background And Aims: Cardiovascular health (CVH), as many other aspects of health, is socially patterned. However, little is known about the socioeconomic determinants of following a more or less favourable pattern of CVH change at midlife.

Methods: We used data on 11,049 participants in the Atherosclerosis Risk in Communities (ARIC) study, a prospective, population-based, bi-racial cohort that included participants aged 44-66 years in 1987-1989, who attended a second visit 6 years later.

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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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Taste perception and its association with nutrition and related diseases (type 2 diabetes, obesity, metabolic syndrome, cardiovascular, etc.) are emerging fields of biomedicine. There is currently great interest in investigating the environmental and genetic factors that influence sweet taste and sugary food preferences for personalized nutrition.

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Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.

Neurology

March 2022

From the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.

Background And Objectives: Genetic white matter disorders (GWMD) are of heterogeneous origin, with >100 causal genes identified to date. Classic targeted approaches achieve a molecular diagnosis in only half of all patients. We aimed to determine the clinical utility of singleton whole-exome sequencing and whole-genome sequencing (sWES-WGS) interpreted with a phenotype- and interactome-driven prioritization algorithm to diagnose GWMD while identifying novel phenotypes and candidate genes.

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Article Synopsis
  • The GH/IGF axis is crucial for development and aging, involving various proteins and receptors that are tightly regulated, although this regulation isn't fully understood.
  • Recent findings have identified mutations in the gene for the PAPP-A2 protease, which plays a key role in releasing IGFs from binding proteins to enable their action on IGF receptor 1.
  • This review discusses the effects of PAPP-A2 on growth physiology, drawing insights from studies on genetically modified animals and patients lacking PAPP-A2.
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Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.

Genet Med

February 2022

Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom; South Australian Health and Medical Research Institute (SAHMRI), The University of Adelaide, Adelaide, South Australia, Australia; Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children, London, United Kingdom. Electronic address:

Purpose: We aimed to investigate the molecular basis underlying a novel phenotype including hypopituitarism associated with primary ovarian insufficiency.

Methods: We used next-generation sequencing to identify variants in all pedigrees. Expression of Rnpc3/RNPC3 was analyzed by in situ hybridization on murine/human embryonic sections.

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The aim of this study was to generate and analyze the atlas of the loggerhead turtle blood transcriptome by RNA-seq, as well as identify and characterize thioredoxin (Tnxs) and peroxiredoxin (Prdxs) antioxidant enzymes of the greatest interest in the control of peroxide levels and other biological functions. The transcriptome of loggerhead turtle was sequenced using the Illumina Hiseq 2000 platform and assembly was performed using the Trinity pipeline. The assembly comprised 515,597 contigs with an N50 of 2,631 bp.

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Dementia and mild forms of cognitive impairment as well as neuropsychiatric symptoms (i. e., impulse control disorders) are frequent and disabling non-motor symptoms of Parkinson's disease (PD).

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Introduction: Type 2 diabetes has been linked to greater cognitive decline, but other glycemic parameters such as prediabetes, diabetes control and treatment, and HOMA-IR and HbA diabetes-related biomarkers have shown inconsistent results. Furthermore, there is limited research assessing these relationships in short-term studies. Thus, we aimed to examine 2-year associations between baseline diabetes/glycemic status and changes in cognitive function in older participants at high risk of cardiovascular disease.

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Telomere length (TL) has been associated with aging and is determined by lifestyle. However, the mechanisms by which a dietary pattern such as the Mediterranean diet (MedDiet) affects TL homeostasis are still unknown. Our aim was to analyse the effect of an energy-restricted MedDiet with physical activity promotion (intervention group) versus an unrestricted-caloric MedDiet with no weight-loss advice (control group) on TL and 8-hydroxydeoxyguanosine (8-OHdG) plasma levels.

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Mechanism-based risk assessment is urged to advance and fully permeate into current safety assessment practices, possibly at early phases of drug safety testing. Toxicogenomics is a promising source of mechanisms-revealing data, but interpretative analysis tools specific for the testing systems (e.g.

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Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.

NPJ Genom Med

September 2021

Robinson Research Institute, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, Australia.

Cerebral palsy (CP) is the most common cause of childhood physical disability, with incidence between 1/500 and 1/700 births in the developed world. Despite increasing evidence for a major contribution of genetics to CP aetiology, genetic testing is currently not performed systematically. We assessed the diagnostic rate of genome sequencing (GS) in a clinically unselected cohort of 150 singleton CP patients, with CP confirmed at >4 years of age.

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The 3-Year Effect of the Mediterranean Diet Intervention on Inflammatory Biomarkers Related to Cardiovascular Disease.

Biomedicines

July 2021

Department of Internal Medicine, Hospital Clinic de Barcelona, Institut d'Investigació Biomèdica August Pi i Sunyer (IDIBAPS), University of Barcelona, Villarroel 170, 08036 Barcelona, Spain.

The intervention with the Mediterranean diet (MD) pattern has evidenced short-term anti-inflammatory effects, but little is known about its long-term anti-inflammatory properties at molecular level. This study aims to investigate the 3-year effect of MD interventions compared to low-fat diet (LFD) on changes on inflammatory biomarkers related to atherosclerosis in a free-living population with a high-risk of cardiovascular disease (CD). Participants ( = 285) in the PREDIMED trial were randomly assigned into three intervention groups: MD with extra-virgin olive oil (EVOO) or MD-Nuts, and a LFD.

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Introduction: AIDS-mortality remains unacceptably high in sub-Saharan Africa, largely driven by advanced HIV disease (AHD). We nested a study in an existing tuberculosis (TB) contact-tracing intervention (Xpatial-TB). The aim was to assess the burden of AHD among high-risk people living with HIV (PLHIV) identified and to evaluate the provision of the WHO-recommended package of care to this population.

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