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showing 10 items of 9299 documents

Associations between cardiovascular disease, cancer, and very low high-density lipoprotein cholesterol in the REasons for Geographical and Racial Dif…

2018

AbstractAimsRelatively little is known about the health outcomes associated with very low plasma concentrations of high-density lipoprotein cholesterol (HDL-C) mainly because of the small numbers of individuals with such extreme values included in clinical trials. We, therefore, investigated the association between low and very low HDL-C concentration at baseline and incident all-cause-mortality, death from malignant disease (i.e. cancer), and with fatal or non-fatal incident coronary heart disease (CHD) in individuals from the Reasons for Geographical And Racial Differences in Stroke (REGARDS) study.Methods and resultsAnalysis was based on 21 751 participants from the REGARDS study who wer…

0301 basic medicineMalemedicine.medical_specialtyTime FactorsPhysiologyDown-RegulationCoronary Disease030204 cardiovascular system & hematologyRisk AssessmentWhite People03 medical and health sciences0302 clinical medicineSex FactorsRisk FactorsPhysiology (medical)Internal medicineCause of DeathNeoplasmsmedicineHumansLongitudinal StudiesStrokeCause of deathAgedDyslipidemiasCancer Death Ratebusiness.industryProportional hazards modelIncidence (epidemiology)IncidenceHazard ratioCholesterol HDLHealth Status DisparitiesMiddle AgedProtective Factorsmedicine.diseaseConfidence intervalUnited StatesResidual riskBlack or African AmericanStroke030104 developmental biologyFemaleCardiology and Cardiovascular MedicinebusinessBiomarkersCardiovascular research
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Improvement of Main Cognitive Functions in Patients with Alzheimer's Disease after Treatment with Coconut Oil Enriched Mediterranean Diet: A Pilot St…

2018

BACKGROUND Alzheimer's disease (AD) is the most prevalent neurodegenerative disorder (mainly in women), and new therapies are needed. In this way, ketone bodies are a direct source of cellular energy and can be obtained from coconut oil, postulating that coconut oil could be a new non-pharmacological alternative in AD patients. OBJECTIVE The aim of this study is to detect changes in the main cognitive functions of patients with AD after following a coconut oil enriched Mediterranean diet, and to determine whether there are differences in function of stage or sex. METHODS A prospective, longitudinal, qualitative, analytic, experimental study was carried out in 44 patients with AD, who were r…

0301 basic medicineMalemedicine.medical_specialtyfood.ingredientMediterranean dietDiseaseDiet MediterraneanSeverity of Illness Index03 medical and health sciences0302 clinical medicinefoodCognitionSex FactorsAlzheimer DiseaseMemoryInternal medicineSeverity of illnessmedicineSemantic memoryHumansIn patientLongitudinal StudiesEpisodic memoryQualitative ResearchAgedAged 80 and overbusiness.industryGeneral NeuroscienceCoconut oilfood and beveragesCognitionGeneral MedicinePsychiatry and Mental healthClinical Psychology030104 developmental biologyTreatment OutcomeTime PerceptionCoconut OilFemaleGeriatrics and Gerontologybusiness030217 neurology & neurosurgeryJournal of Alzheimer's disease : JAD
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Low Dietary Magnesium and Overweight/Obesity in a Mediterranean Population: A Detrimental Synergy for the Development of Hypertension. The SUN Project

2020

Hypertension is the strongest independent modifiable risk factor for cardiovascular disease. We aimed to investigate the association of magnesium intake with incident hypertension in a Mediterranean population, and the potential modification of this association by body mass index BMI. We assessed 14,057 participants of the SUN (Seguimiento Universidad de Navarra) prospective cohort (67.0% women) initially free of hypertension. At baseline, a validated 136-item food frequency questionnaire was administered. We used Cox models adjusted for multiple socio-demographic, anthropometric, and lifestyle factors, and prevalent conditions present at baseline. Among a mean 9.6 years of follow-up we obs…

0301 basic medicineMaleobesitySettore MED/09 - Medicina InternaMediterranean diet030204 cardiovascular system & hematologyOverweightmagnesiumDiet Mediterranean0302 clinical medicinecohort studiesRisk FactorsMagnesiumLongitudinal StudiesProspective StudiesUncategorizededucation.field_of_studyNutrition and DieteticsIncidenceMiddle AgedCohortHypertensionCohort studiesFemalemedicine.symptomlcsh:Nutrition. Foods and food supplyCohort studyAdulthypertensionPopulationlcsh:TX341-641Diet SurveysArticle03 medical and health sciencesYoung AdultEnvironmental healthmedicineHumansoverweightObesityRisk factoreducation030109 nutrition & dieteticsbusiness.industryFeeding BehaviorOverweightmedicine.diseaseObesityDietSpainSelf ReportbusinessdietBody mass indexFood ScienceFollow-Up StudiesNutrients
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Native Mitral Valve Endocarditis Caused by Neisseria elongata subsp. nitroreducens in a Patient with Marfan Syndrome: First Case in Italy and Review …

2016

Neisseria elongata(NE) is an aerobic Gram-negative organism that constitutes part of the commensal human normal oropharyngeal flora. Although previously considered not to be pathogenic, it has been recognized as an occasional cause of significant infections in humans. We report here the first case in Italy of infective endocarditis of a native prolapsing mitral valve in a patient with Marfan syndrome, caused by NE subspeciesnitroreducenswhich has been rarely isolated from clinical specimens. The culprit organism has been confirmed by mass spectrometry directly from the positive blood culture, as previously reported. The amplified gene has been deposited in GenBank under accession number KT5…

0301 basic medicineMarfan syndromePathologymedicine.medical_specialty030106 microbiologyCase Report030204 cardiovascular system & hematologyMicrobiologylcsh:Infectious and parasitic diseases03 medical and health sciencesMitral valve endocarditis0302 clinical medicineMitral valveMedicineEndocarditislcsh:RC109-216Neisseria elongata subsp nitroreducensNeisseria elongatabiologybusiness.industryGeneral MedicineNeisseria elongatabiology.organism_classificationmedicine.diseasemedicine.anatomical_structureInfective endocarditisPositive blood cultureendocarditisbusinessCase Reports in Infectious Diseases
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The collagen type I segment long spacing (SLS) and fibrillar forms: Formation by ATP and sulphonated diazo dyes.

2016

The collagen type I segment long spacing (SLS) crystallite is a well-ordered rod-like molecular aggregate, ∼300nm in length, which is produced in vitro under mildly acidic conditions (pH 2.5-3.5) in the presence of 1mM ATP. The formation of the SLS crystallite amplifies the inherent linear structural features of individual collagen heterotrimers, due to the punctate linear distribution and summation of the bulkier amino acid side chains along the length of individual collagen heterotrimers. This can be correlated structurally with the 67nm D-banded collagen fibril that is found in vivo, and formed in vitro. Although first described many years ago, the range of conditions required for ATP-in…

0301 basic medicineMaterials sciencePolymersMethyl blueMuscle Fibers SkeletalGeneral Physics and AstronomyFibrilNegative StainingCollagen Type I03 medical and health scienceschemistry.chemical_compoundAdenosine TriphosphateStructural BiologyPolymer chemistryGeneral Materials ScienceColoring AgentsSirius RedEvans Bluechemistry.chemical_classification030102 biochemistry & molecular biologyFibrillogenesisCell BiologyPolyelectrolytesAmino acidCongo redMicroscopy Electron030104 developmental biologychemistryBiophysicsCrystalliteAzo CompoundsEvans BlueMicron (Oxford, England : 1993)
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Comprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer

2018

Microsatellite instability (MSI) leads to accumulation of an excessive number of mutations in the genome, mostly small insertions and deletions. MSI colorectal cancers (CRCs), however, also contain more point mutations than microsatellite-stable (MSS) tumors, yet they have not been as comprehensively studied. To identify candidate driver genes affected by point mutations in MSI CRC, we ranked genes based on mutation significance while correcting for replication timing and gene expression utilizing an algorithm, MutSigCV. Somatic point mutation data from the exome kit-targeted area from 24 exome-sequenced sporadic MSI CRCs and respective normals, and 12 whole-genome-sequenced sporadic MSI CR…

0301 basic medicineMedicine (General)Candidate geneclinical evaluationgenetic identificationgenetic analysisQH426-470medicine.disease_causeChromatin Epigenetics Genomics & Functional Genomicswhole exome sequencingddc:590mutator genesingle nucleotide polymorphismddc:576.5Gene Regulatory NetworksExomeExome sequencingCancercancer cellGeneticsMutation1184 Genetics developmental biology physiology3. Good healthgenetic codesyöpägeenitpriority journalMolecular Medicinewild typepoint mutationSystems MedicineColorectal Neoplasmscongenital hereditary and neonatal diseases and abnormalitiesddc:025.063/5703122 Cancerscancer geneticsSingle-nucleotide polymorphismcolorectal cancerBiologygene frequencyta3111mikrosatelliititcolony formationR105W geneArticle03 medical and health sciencesR5-920Gene interactionReportGeneticsmedicineHumanscontrolled studyhumanneoplasmspaksusuolisyöpäPoint mutationgene interactionhuman celltumor-related geneMicrosatellite instabilityMolecular Sequence AnnotationSequence Analysis DNAmedicine.diseaseta3122digestive system diseaseshuman tissueSTK38L gene030104 developmental biologyvalidation processgene expressionSMARCB1 genemicrosatellite instability3111 Biomedicinegene replicationReports
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Apoptotic Activity of MeCP2 Is Enhanced by C-Terminal Truncating Mutations.

2016

Methyl-CpG binding protein 2 (MeCP2) is a widely abundant, multifunctional protein most highly expressed in post-mitotic neurons. Mutations causing Rett syndrome and related neurodevelopmental disorders have been identified along the entire MECP2 locus, but symptoms vary depending on mutation type and location. C-terminal mutations are prevalent, but little is known about the function of the MeCP2 C-terminus. We employ the genetic efficiency of Drosophila to provide evidence that expression of p.Arg294* (more commonly identified as R294X), a human MECP2 E2 mutant allele causing truncation of the C-terminal domains, promotes apoptosis of identified neurons in vivo. We confirm this novel find…

0301 basic medicineMethyl-CpG-Binding Protein 2lcsh:MedicineApoptosisBiochemistryPhosphoserine0302 clinical medicineAnimal CellsDrosophila ProteinsPost-Translational ModificationPhosphorylationlcsh:ScienceNeuronsMotor NeuronsGeneticsMultidisciplinaryCell DeathbiologyDrosophila MelanogasterAnimal ModelsInsectsFOXG1Cell ProcessesCaspasesPhosphorylationDrosophilaBiological CulturesCellular TypesDrosophila melanogasterResearch ArticleGene isoformcongenital hereditary and neonatal diseases and abnormalitiesArthropodaProtein domainMouse ModelsMotor ActivityResearch and Analysis MethodsTransfectionModels BiologicalMECP203 medical and health sciencesModel OrganismsProtein Domainsmental disordersAnimalsHumansMolecular Biology TechniquesImmunohistochemistry TechniquesMolecular BiologyTranscription factorBinding proteinlcsh:ROrganismsBiology and Life SciencesProteinsCell BiologyCell Culturesbiology.organism_classificationInvertebratesHistochemistry and Cytochemistry TechniquesHEK293 Cells030104 developmental biologyCellular NeuroscienceMutationImmunologic TechniquesMutant Proteinslcsh:Q030217 neurology & neurosurgeryNeuroscienceTranscription FactorsPLoS ONE
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Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trial

2020

AbstractMyotonic dystrophy type 1 (DM1) is a rare genetic disorder, characterised by muscular dystrophy, myotonia, and other symptoms. DM1 is caused by the expansion of a CTG repeat in the 3’-untranslated region of DMPK. Longer CTG expansions are associated with greater symptom severity and earlier age at onset. The primary mechanism of pathogenesis is thought to be mediated by a gain of function of the CUG-containing RNA, that leads to trans-dysregulation of RNA metabolism of many other genes. Specifically, the alternative splicing (AS) and alternative polyadenylation (APA) of many genes is known to be disrupted. In the context of clinical trials of emerging DM1 treatments, it is important…

0301 basic medicineMicroarrayPhysiologyMicroarraysBioinformaticsBiochemistryMachine Learning0302 clinical medicineMathematical and Statistical TechniquesMedicine and Health SciencesMyotonic DystrophyMuscular dystrophyOligonucleotide Array Sequence AnalysisClinical Trials as TopicMultidisciplinaryMusclesQStatisticsRGenetic disorderMuscle AnalysisBody FluidsNucleic acidsBloodBioassays and Physiological AnalysisTreatment OutcomeGenetic DiseasesPhysical SciencesMedicineRegression AnalysisAnatomyDatabases Nucleic AcidResearch Articlemusculoskeletal diseasesGenetic Markerscongenital hereditary and neonatal diseases and abnormalitiesScienceContext (language use)Linear Regression AnalysisBiostatisticsResearch and Analysis MethodsPolyadenylationMyotonic dystrophyMyotonin-Protein Kinase03 medical and health sciencesmedicineGeneticsHumansRNA MessengerStatistical MethodsLeast-Squares AnalysisGeneClinical GeneticsModels Geneticbusiness.industryAlternative splicingBiology and Life Sciencesmedicine.diseaseMyotoniaAlternative Splicing030104 developmental biologyRNA processingRNAGene expressionbusinessTrinucleotide repeat expansionTrinucleotide Repeat Expansion030217 neurology & neurosurgeryBiomarkersMathematicsForecastingPLoS ONE
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Factors influencing cytomegalovirus DNA load measurements in whole blood and plasma specimens from allogeneic hematopoietic stem cell transplant reci…

2019

We assessed the impact of several parameters, including the nature of the episode of Cytomegalovirus (CMV) DNAemia, the use of preemptive antiviral therapy, and the blood cell content in CMV DNA loads measured in whole blood (WB) and plasma (PL). CMV DNA load was quantified in 245 paired specimens collected within 43 postengraftment episodes of CMV DNAemia by using the CMV RealTime CMV PCR (Abbott Molecular). Concordant categorical results were obtained for 78.4% of paired specimens (Kappa index, 0.385; P = 0.001). Overall, CMV DNA loads in PL were higher than those in WB (mean bias, +0.115 log IU/mL) in both initial and recurrent episodes; this was so in post-antiviral treatment but not in…

0301 basic medicineMicrobiology (medical)030106 microbiologyCongenital cytomegalovirus infectionCytomegalovirusCytomegalovirus DNABlood cell03 medical and health sciences0302 clinical medicineHumansTransplantation HomologousMedicine030212 general & internal medicineWhole bloodbusiness.industryHematopoietic Stem Cell TransplantationAntiviral therapyvirus diseasesGeneral MedicineViral Loadmedicine.diseaseTransplant RecipientsBloodInfectious DiseasesReal-time polymerase chain reactionmedicine.anatomical_structureCytomegalovirus InfectionsDNA ViralImmunologyAllogeneic hematopoietic stem cell transplantbusinessViral loadDiagnostic Microbiology and Infectious Disease
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Ethanol Production by Selected Intestinal Microorganisms and Lactic Acid Bacteria Growing under Different Nutritional Conditions

2016

To gain some specific insight into the roles microorganisms might play in non-alcoholic fatty liver disease (NAFLD), some intestinal and lactic acid bacteria and one yeast (Anaerostipes caccae, Bacteroides thetaiotaomicron, Bifidobacterium longum, Enterococcus fecalis, Escherichia coli, Lactobacillus acidophilus, Lactobacillus fermentum, Lactobacillus plantarum, Weissella confusa, Saccharomyces cerevisiae) were characterized by high performance liquid chromatography for production of ethanol when grown on different carbohydrates: hexoses (glucose and fructose), pentoses (arabinose and ribose), disaccharides (lactose and lactulose), and inulin. Highest amounts of ethanol were produced by S. …

0301 basic medicineMicrobiology (medical)Bifidobacterium longumfecal slurriesLactobacillus fermentum030106 microbiologylcsh:QR1-502Weissella confusaBiologydigestive systemMicrobiologylcsh:Microbiologyfructose03 medical and health scienceschemistry.chemical_compoundfluids and secretionsLactobacillus acidophilusEthanol fuelarabinoseOriginal Researchinulinnon-alcoholic fatty liver diseasefood and beveragesFructosebiology.organism_classificationLactic acid030104 developmental biologyBiochemistrychemistrylactuloseFermentationethanolLactobacillus plantarumFrontiers in Microbiology
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