Search results for "DISORDERS"

showing 10 items of 4560 documents

The Role of Anabolic Androgenic Steroids in Disruption of the Physiological Function in Discrete Areas of the Central Nervous System

2017

: Anabolic-androgenic steroids (AAS) abuse is often associated with a wide spectrum of adverse effects. These drugs are frequently abused by adolescents and athletes for esthetic purposes, as well as for improvement of their endurance and performances. In this literature review, we evaluated the correlation between AAS and anxiety or aggression. Two pathways are thought to be involved in AAS-induced behavioral disorders. Direct pathway via the amygdalo-fugal pathway, which connects the central nucleus of the amygdala to the brainstem, is involved in cognitive-emotive and homeostatic processes. The latter is modified by chronic AAS use, which subsequently leads to increased anxiety. Indirect…

0301 basic medicineNeuroscience (miscellaneous)SerotonergicAbuse; Amygdala; Anabolic-androgenic steroids (AAS); Behavioral disorders; Central nervous system; Molecular mechanisms; Cellular and Molecular NeuroscienceAmygdalaAbuseMolecular mechanism03 medical and health sciencesCellular and Molecular NeuroscienceAnabolic Agents0302 clinical medicinemedicineAnimalsHumansDirect pathway of movementAggressionCentral nucleus of the amygdalaDopaminergicMolecular mechanismsAmygdalaAggressionBehavioral disorders030104 developmental biologymedicine.anatomical_structureNeurologyHypothalamusCentral nervous systemBehavioral disorderAndrogensAnxietySteroidsmedicine.symptomPsychologyNeuroscience030217 neurology & neurosurgeryAnabolic-androgenic steroids (AAS)
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Loss of synaptic zinc transport in progranulin deficient mice may contribute to progranulin-associated psychopathology and chronic pain

2017

Affective and cognitive processing of nociception contributes to the development of chronic pain and vice versa, pain may precipitate psychopathologic symptoms. We hypothesized a higher risk for the latter with immanent neurologic diseases and studied this potential interrelationship in progranulin-deficient mice, which are a model for frontotemporal dementia, a disease dominated by behavioral abnormalities in humans. Young naïve progranulin deficient mice behaved normal in tests of short-term memory, anxiety, depression and nociception, but after peripheral nerve injury, they showed attention-deficit and depression-like behavior, over-activity, loss of shelter-seeking, reduced impulse cont…

0301 basic medicineNeurotransmitter transportermedicine.medical_specialtyMice03 medical and health sciencesProgranulins0302 clinical medicinePeripheral Nerve InjuriesInternal medicinemental disordersmedicineAnimalsPrefrontal cortexMolecular BiologyGranulinsMice KnockoutIon Transportbusiness.industryChronic painmedicine.diseaseZinc030104 developmental biologyNociceptionEndocrinologyCompulsive behaviorNeuropathic painPeripheral nerve injuryIntercellular Signaling Peptides and ProteinsNeuralgiaMolecular MedicineChronic Painmedicine.symptomCarrier Proteinsbusiness030217 neurology & neurosurgeryFrontotemporal dementiaBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
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Association between DNA methylation and ADHD symptoms from birth to school age: a prospective meta-analysis

2020

Funder: Gouvernement du Canada | Canadian Institutes of Health Research (Instituts de Recherche en Santé du Canada); doi: https://doi.org/10.13039/501100000024

0301 basic medicineOncology3124 Neurology and psychiatryEpigenesis GeneticACTIVATION0302 clinical medicine3123 Gynaecology and paediatricsPregnancyProspective StudiesProspective cohort studyChildRISK0303 health sciencesSchoolsATTENTION-DEFICIT/HYPERACTIVITY DISORDERMethylation3. Good healthPsychiatry and Mental healthMeta-analysisChild PreschoolDNA methylation/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingBiomarker (medicine)FemalePACKAGEmedicine.medical_specialtyAdolescent515 PsychologyArticlelcsh:RC321-571Cellular and Molecular Neuroscience03 medical and health sciencesSDG 3 - Good Health and Well-beingInternal medicinemedicineGeneticsAttention deficit hyperactivity disorderHumansEpigeneticslcsh:Neurosciences. Biological psychiatry. NeuropsychiatryBiological Psychiatry030304 developmental biologyGenetic associationPregnancybusiness.industryInfant NewbornPERFORMANCEDNA Methylationmedicine.diseaseGENE030104 developmental biologyAttention Deficit Disorder with HyperactivityCOHORT PROFILEEtiologybusinessPsychiatric disorders030217 neurology & neurosurgery
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Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization

2020

Simple Summary Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome is a very rare hereditary disorder characterized by cutaneous leiomyomas (CLMs), uterine leiomyomas (ULMs), renal cysts (RCys) and renal cell cancer (RCC), with no data on its prevalence worldwide. No genotype-phenotype associations have been described. The aim of our study was to describe the genotypic and phenotypic features of the largest series of patients with HLRCC from Spain reported to date. Of 27 FH germline pathogenic variants, 12 were not previously reported in databases. Patients with missense pathogenic variants showed higher frequencies of CLMs, ULMs and RCys, than those with loss-of-function varia…

0301 basic medicineOncologyCancer ResearchCancer cellsmedicine.disease_causeurologic and male genital diseases:Male Urogenital Diseases::Urogenital Neoplasms::Urologic Neoplasms::Kidney Neoplasms::Male Urogenital Diseases::Carcinoma Renal Cell [DISEASES]<i>FH</i> gene0302 clinical medicineMalalties hereditàriesMissense mutationFH geneFH gene hereditary leiomyomatosis leiomyomas missense pathogenic variants renal cell cancerRenal cell cancerMutationKidney diseasesHereditary leiomyomatosis:Otros calificadores::Otros calificadores::/genética [Otros calificadores]:enfermedades urogenitales masculinas::neoplasias urogenitales::neoplasias urológicas::neoplasias renales::enfermedades urogenitales masculinas::carcinoma de células renales [ENFERMEDADES]leiomyomasmissense pathogenic variants renal cell cancerlcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensRare diseases:Geographic Locations::Europe::Spain [GEOGRAPHICALS]Oncology030220 oncology & carcinogenesisCohortCèl·lules cancerosesMalalties raresRenal Cell CancersGenetic disordersmedicine.medical_specialtyMissense pathogenic variantsBiología Celularlcsh:RC254-282Article03 medical and health sciencesLeiomyomasInternal medicine:Other subheadings::Other subheadings::/genetics [Other subheadings]medicineRonyons - Malalties - Espanya:localizaciones geográficas::Europa (continente)::España [DENOMINACIONES GEOGRÁFICAS]business.industry:neoplasias::neoplasias por tipo histológico::neoplasias de tejido conjuntivo y de tejidos blandos::neoplasias de tejido muscular::leiomioma::leiomiomatosis [ENFERMEDADES]Retrospective cohort studymedicine.diseaseGenética030104 developmental biologyFumaraseClinical diagnosisHereditary leiomyomatosis and renal cell cancer syndromeMalalties del ronyó:Neoplasms::Neoplasms by Histologic Type::Neoplasms Connective and Soft Tissue::Neoplasms Muscle Tissue::Leiomyoma::Leiomyomatosis [DISEASES]hereditary leiomyomatosisbusiness
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Transcriptomic and Genetic Associations between Alzheimer's Disease, Parkinson's Disease, and Cancer.

2021

Simple Summary Epidemiological studies have identified a link between neurodegenerative disorders and a reduced risk of overall cancer. Increases and decreases in the risk of site-specific cancers have also been reported. However, it is still unknown whether these associations arise due to shared genetic and molecular factors or are explained by other phenomena (e.g., biases in epidemiological studies or the use of medication). In this study, we aimed to investigate the potential molecular, genetic, and pharmacological links between Alzheimer’s and Parkinson’s diseases and a large panel of 22 cancer types. To examine the overlapping involvement of genes and pathways, we obtained differentia…

0301 basic medicineOncologyCancer ResearchParkinson's diseaseGenetic correlationsGenome-wide association studyDiseaseComorbidityParkinson Enfermedad de - Aspectos genéticos.chemistry.chemical_compound0302 clinical medicineExemestaneParkinson's disease - Genetic aspects.MedicineParkinsonCáncer - Aspectos genéticos.Càncer -- Aspectes genèticsRC254-282Alzheimer's disease - Genetic aspects.NeurodegenerationNeoplasms. Tumors. Oncology. Including cancer and carcinogensCódigo genético.comorbidityOncology:Informàtica::Aplicacions de la informàtica::Bioinformàtica [Àrees temàtiques de la UPC]medicine.medical_specialtyGenetic code.Alzheimer Enfermedad de - Aspectos genéticos.Article03 medical and health sciencesInternal medicineParkinson Malaltia dePI3K/AKT/mTOR pathwaygenetic correlationsCancer - Genetic aspects.business.industryCancertranscriptomicmedicine.diseaseComorbidityAlzheimer Malaltia d'030104 developmental biologychemistryTranscriptomicmeta-analysesMeta-analysesNeurodegenerative disordersAlzheimerGene expressionbusiness030217 neurology & neurosurgeryCancers
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Germline variation in the insulin-like growth factor pathway and risk of Barrett's esophagus and esophageal adenocarcinoma

2020

Contains fulltext : 235640.pdf (Publisher’s version ) (Closed access) Genome-wide association studies (GWAS) of esophageal adenocarcinoma (EAC) and its precursor, Barrett's esophagus (BE), have uncovered significant genetic components of risk, but most heritability remains unexplained. Targeted assessment of genetic variation in biologically relevant pathways using novel analytical approaches may identify missed susceptibility signals. Central obesity, a key BE/EAC risk factor, is linked to systemic inflammation, altered hormonal signaling and insulin-like growth factor (IGF) axis dysfunction. Here, we assessed IGF-related genetic variation and risk of BE and EAC. Principal component analys…

0301 basic medicineOncologyMaleCancer Researchmedicine.medical_specialtyEsophageal NeoplasmsMedizinSingle-nucleotide polymorphismGenome-wide association studyBiologyAdenocarcinomaPolymorphism Single NucleotideReceptor IGF Type 103 medical and health sciencesBarrett Esophagus0302 clinical medicineRisk FactorsSomatomedinsInternal medicineGenetic variationmedicineBiomarkers TumorSNPHumansGenetic Predisposition to DiseaseRisk factorGerm-Line MutationCancer Biomarkers and Molecular EpidemiologyInsulin-like growth factor 1 receptorGenetic associationAgedGeneral MedicineMiddle Agedmedicine.diseaseRenal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11]030104 developmental biology030220 oncology & carcinogenesisBarrett's esophagusFemaleHuman medicineCarrier ProteinsGenome-Wide Association StudySignal TransductionCarcinogenesis
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Oxidative signature of cerebrospinal fluid from mild cognitive impairment and Alzheimer disease patients

2015

Abstract Background Several studies suggest that pathological changes in Alzheimer’s disease (AD) brain begin around 10–20 years before the onset of cognitive impairment. Biomarkers that can support early diagnosis and predict development of dementia would, therefore, be crucial for patient care and evaluation of drug efficacy. Although cerebrospinal fluid (CSF) levels of Aβ42, tau, and p-tau are well-established diagnostic biomarkers of AD, there is an urgent need to identify additional molecular alterations of neuronal function that can be evaluated at the systemic level. Objectives This study was focused on the analysis of oxidative stress-related modifications of the CSF proteome, from …

0301 basic medicineOncologyPathologyDiseasephysiology (medical)medicine.disease_causeProtein oxidationtau proteins0302 clinical medicineCerebrospinal fluidmiddle aged80 and overoxidative stresshumansAged 80 and overamyloid beta-peptidesredox proteomicsagedfemale030220 oncology & carcinogenesisBiomarker (medicine)Alzheimer's diseaseAlzheimer diseaseAPOEmedicine.medical_specialtyoxidation-reductionproteomeCSFmolecular sequence data03 medical and health sciencesmalecognitive dysfunctionInternal medicinemental disordersmedicineDementiabiochemistryprotein oxidationbusiness.industrypeptide fragmentscase-control studiesCase-control studybiomarkersmedicine.diseaseAPOE; biomarkers; CSF; extracellular chaperones; protein oxidation; redox proteomics; aged; aged 80 and over; Alzheimer disease; amino acid sequence; amyloid beta-peptides; apolipoproteins E; biomarkers; case-control studies; cognitive dysfunction; female; humans; male; middle aged; molecular sequence data; oxidation-reduction; oxidative stress; peptide fragments; proteome; tau proteins; biochemistry; physiology (medical)extracellular chaperonesamino acid sequence030104 developmental biologybusinessOxidative stressapolipoproteins E
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Baseline plasma levels of soluble PD-1, PD-L1, and BTN3A1 predict response to nivolumab treatment in patients with metastatic renal cell carcinoma: a…

2020

Despite a proportion of renal cancer patients can experiment marked and durable responses to immune-checkpoint inhibitors, the treatment efficacy is widely variable and identifying the patient who will benefit from immunotherapy remains an issue. We performed a prospective study to investigate if soluble forms of the immune-checkpoints PD-1 (sPD-1), PD-L1 (sPD-L1), pan-BTN3As, BTN3A1, and BTN2A1, could be candidate to predict the response to immune-checkpoint blockade therapy. We evaluated the plasma levels in a learning cohort of metastatic clear cell renal carcinoma (mccRCC) patients treated with the anti-PD-1 agent nivolumab by ad hoc developed ELISA’s. Using specific cut-offs determined…

0301 basic medicineOncologySettore MED/06 - Oncologia MedicaProgrammed Cell Death 1 ReceptorB7-H1 Antigen0302 clinical medicineRenal cell carcinomaPD-1Immunology and AllergyProspective Studiespredictive biomarkerRC254-282ComputingMilieux_MISCELLANEOUSOriginal ResearchbiologyNeoplasms. Tumors. Oncology. Including cancer and carcinogensfood and beveragesBTN3A1PrognosisTreatment efficacyKidney Neoplasms3. Good healthNivolumabOncology030220 oncology & carcinogenesisBiomarker (medicine)[SDV.IMM]Life Sciences [q-bio]/Immunologysoluble immune-checkpointsNivolumabResearch ArticlePD-L1medicine.medical_specialtyrenal cell carcinomabutyrophilinImmunology03 medical and health sciencesAntigens CDInternal medicinePD-L1mental disordersmedicineHumansIn patientCarcinoma Renal Cellbutyrophilinsbusiness.industryCancercirculating immune checkpointsPlasma levelsRC581-607medicine.diseasecirculating immune checkpoint030104 developmental biologyBTN2A1immunotherapy responsebiology.proteinImmunologic diseases. Allergybusiness
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Positive impact of ABCB1 polymorphisms in overall survival and complete remission in acute myeloid leukemia: a systematic review and meta-analysis

2015

Positive impact of ABCB1 polymorphisms in overall survival and complete remission in acute myeloid leukemia: a systematic review and meta-analysis

0301 basic medicineOncologymedicine.medical_specialtyATP Binding Cassette Transporter Subfamily BPolymorphism Single Nucleotide03 medical and health sciencesRemission induction0302 clinical medicinehemic and lymphatic diseasesInternal medicinemental disordersGeneticsOverall survivalHumansMedicineSurvival ratePharmacologybusiness.industryRemission InductionComplete remissionMyeloid leukemiaSurvival RateLeukemia Myeloid Acute030104 developmental biology030220 oncology & carcinogenesisMeta-analysisMolecular MedicinebusinessThe Pharmacogenomics Journal
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Imaging correlates of behavioral impairments: An experimental PET study in the rat pilocarpine epilepsy model

2018

Abstract Psychiatric comorbidities are prevalent in patients with epilepsy and greatly contribute to the overall burden of disease. The availability of reliable biomarkers to diagnose epilepsy-associated comorbidities would allow for effective treatment and improved disease management. Due to their non-invasive nature, molecular imaging techniques such as positron emission tomography (PET) are ideal tools to measure pathologic changes. In the current study we investigated the potential of [18F]fluoro-2-deoxy- d -glucose ([18F]FDG) and 2′-methoxyphenyl-(N-2′-pyridinyl)-p-18F-fluoro-benzamidoethylpiperazine ([18F]MPPF) as imaging correlates of neurobehavioral comorbidities in the pilocarpine …

0301 basic medicineOncologymedicine.medical_specialtyNeurologyEpileptogenesislcsh:RC321-571Rats Sprague-Dawley03 medical and health sciencesEpilepsychemistry.chemical_compound0302 clinical medicineNeurotrophic factorsInternal medicineMedicineAnimalsInterpersonal RelationsAnimal modellcsh:Neurosciences. Biological psychiatry. NeuropsychiatryBehaviorEpilepsymedicine.diagnostic_testbusiness.industryMental DisordersPilocarpinemedicine.diseaseRatsDisease Models Animal030104 developmental biologyBDNFPETchemistryNeurologyPositron emission tomographyPilocarpinePositron-Emission TomographyReceptor Serotonin 5-HT1ABiomarker (medicine)Female[18F]MPPFMPPF[18F]FDGbusiness030217 neurology & neurosurgerymedicine.drug
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