Search results for "DISORDER"

showing 10 items of 6405 documents

Efficacy and Safety of Elbasvir/Grazoprevir in Patients with Chronic Hepatitis C Virus Infection and Inherited Blood Disorders: Final Data from the C…

2016

Abstract Background: Complications from chronic hepatitis C virus (HCV) infection are a major cause of morbidity and mortality among individuals with inherited blood disorders (IBLD). Inability to tolerate ribavirin and frequent comorbidities have limited HCV treatment options in these patients. The aim of the C-EDGE IBLD study was to evaluate the efficacy and safety of a once-daily, fixed-dose combination of elbasvir 50 mg (EBR, an NS5A inhibitor) and grazoprevir 100 mg (GZR, an NS3/4A protease inhibitor) in patients with HCV infection and IBLD, including those with hemoglobinopathies. Methods: C-EDGE-IBLD was a randomized, double-blind, placebo-controlled study of treatment-naïve and trea…

0301 basic medicineElbasvirbusiness.industryRibavirinImmunologyCell BiologyHematologyHepatitis Cmedicine.diseaseBiochemistryVirologySickle cell anemiaVirus03 medical and health scienceschemistry.chemical_compound030104 developmental biologyBlood DisorderchemistryGrazoprevirmedicineElbasvir GrazoprevirbusinessBlood
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Effects of the LPA1 Receptor Deficiency and Stress on the Hippocampal LPA Species in Mice

2019

Lysophosphatidic acid (LPA) is an important bioactive lipid species that functions in intracellular signaling through six characterized G protein-coupled receptors (LPA1-6). Among these receptors, LPA1 is a strong candidate to mediate the central effects of LPA on emotion and may be involved in promoting normal emotional behaviors. Alterations in this receptor may induce vulnerability to stress and predispose an individual to a psychopathological disease. In fact, mice lacking the LPA1 receptor exhibit emotional dysregulation and cognitive alterations in hippocampus-dependent tasks. Moreover, the loss of this receptor results in a phenotype of low resilience with dysfunctional coping in res…

0301 basic medicineElevated plus mazemedicine.medical_specialtyMALDI-TOFF mass spectrometry:Medicina Básica [Ciências Médicas]BiologyHippocampal formationemotionslcsh:RC321-57103 medical and health scienceschemistry.chemical_compoundstressCellular and Molecular Neuroscience0302 clinical medicineInternal medicineLysophosphatidic acidmedicineReceptorlcsh:Neurosciences. Biological psychiatry. NeuropsychiatryMolecular BiologyScience & TechnologyEmotional dysregulationmedicine.diseasePhenotypeLPA species030104 developmental biologyEndocrinologychemistryMood disordersCiências Médicas::Medicina Básicalipids (amino acids peptides and proteins)LPA receptor 1LPA1 receptorbiological phenomena cell phenomena and immunity030217 neurology & neurosurgeryIntracellularLPA(1) receptorFrontiers in Molecular Neuroscience
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A Pharmacological Update of Ellagic Acid.

2018

Este artículo se encuentra disponible en la página web de la revista en la siguiente URL: https://www.thieme-connect.com/products/ejournals/pdf/10.1055/a-0633-9492.pdf This is a pre-print of an article published in Ríos, JL., Giner, RM., Marín, M. and Recio, MC. (2018). A pharmacological update of ellagic acid. Planta Medica, vol. 84, n. 15, pp. 1068-1093. The final authenticated version is available online at: https://doi.org/10.1055/a-0633-9492 Este es el pre-print del siguiente artículo Ríos, JL., Giner, RM., Marín, M. and Recio, MC. (2018). A pharmacological update of ellagic acid. Planta Medica, vol. 84, n. 15, pp. 1068-1093 que se ha publicado de forma definitiva en https://doi.org/10…

0301 basic medicineEllagic acid - Pharmacokinetics.Antioxidantmedicine.medical_treatmentMetaboliteInterleukin-1betaAnti-Inflammatory AgentsPharmaceutical ScienceApoptosisPharmacologyProtective AgentsProteína quinasa.NeuroprotectionAntioxidantsAnalytical Chemistry03 medical and health scienceschemistry.chemical_compound0302 clinical medicineEllagic AcidGlycationDrug DiscoverymedicineHumansProtein kinases.Cell ProliferationPharmacologyMetabolic SyndromeAldose reductaseInterleukin-6Tumor Necrosis Factor-alphaMetabolismo - Trastornos.Organic ChemistryNF-kappa BLipid metabolismAtherosclerosisEllagic acid - Physiological effect.NeuroprotectionMetabolism disorder030104 developmental biologyComplementary and alternative medicinechemistryÁcido elágico - Efectos fisiológicos.Antioxidantes.Ácido elágico - Farmacocinética.030220 oncology & carcinogenesisMolecular MedicineMetabolism - Disorders.Antioxidants.Ellagic acidPlanta medica
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The emergence of loss of efficacy during antidepressant drug treatment for major depressive disorder: An integrative review of evidence, mechanisms, …

2018

The re-emergence (i.e. ‘breakthrough’) of depressive symptoms despite maintenance treatment of depression with antidepressant drugs is a complex clinical phenomenon referred to as tolerance. Herein we critically appraise evidence from both pre-clinical and clinical studies, focusing on putative mechanisms as well as clinical correlates and implications of the emergence tolerance during antidepressant treatment for major depressive disorder (MDD). It is firstly unclear to what extent this phenotype reflects a pharmacological effect of an antidepressant, is driven by non-adherence, is a marker of latent bipolarity or another comorbidity, a marker of neuroprogression of the underlying disorder…

0301 basic medicineEmotional bluntingLoss of efficacyAntidepressantTreatment-resistanceSerotonergicloss of response03 medical and health sciences0302 clinical medicinetachyphylaxisMedicineRelapseswitch.Depression (differential diagnoses)treatment-resistancerelapsePharmacologyantidepressantwithdrawalbusiness.industryOperational definitionSwitchloss of efficacymedicine.diseaseComorbidity030104 developmental biologyWithdrawal030220 oncology & carcinogenesisMajor depressive disorderAntidepressantLoss of responsebusinessTachyphylaxiTolerancePsychosocialClinical psychologyPharmacological Research
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Intrasinusoidal HHV8-EBV–Positive Large B-Cell Lymphoma With Features of Germinotropic Lymphoproliferative Disorder

2020

Germinotropic lymphoproliferative disorder (GLPD) is a poorly characterized lymphoproliferative entity, recently included in the World Health Organization classification of hematolymphoid neoplasms. The histological pattern of this disease comprises monotypic plasmablasts that involve the germinal centers of the lymphoid follicles (germinotrophism), forming confluent aggregates positive for both human herpes virus type 8 (HHV8) and Epstein-Barr virus. Currently, after 17 years of its first description, only 18 cases have been reported. In this article, we describe a case of a GLPD presenting in an immunocompetent 79-year-old woman with localized axillary lymphadenopathy, showing a prominen…

0301 basic medicineEpstein-Barr Virus InfectionsHerpesvirus 4 HumanPathologymedicine.medical_specialtyLymphoma B-Cellmedicine.disease_causePathology and Forensic Medicine03 medical and health sciences0302 clinical medicinemedicineAxillary LymphadenopathyHumansB-cell lymphomaAnaplastic large-cell lymphomaAgedbusiness.industryGerminal centerHerpesviridae Infectionsmedicine.diseaseEpstein–Barr virusLymphoproliferative DisordersLymphoma030104 developmental biologyPleomorphism (cytology)030220 oncology & carcinogenesisHerpesvirus 8 HumanFemaleSurgeryLymph NodesAnatomyDifferential diagnosisbusinessInternational Journal of Surgical Pathology
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Protective and regenerative effects of a novel medical device against esophageal mucosal damage using in vitro and ex vivo models.

2020

Gastroesophageal reflux disease (GERD) is a common digestive disorder that causes esophagitis and injuries to the esophageal mucosa. GERD symptoms are recurrent during pregnancy and their treatment is focused on lifestyle changes and nonprescription medicines. The aim of this study was to characterize the mechanism of action of a new patented medical device, an oral formulation containing hyaluronic acid, rice extract, and amino acids dispersed in a bioadhesive polymer matrix, by assessing its protective effects in in vitro and ex vivo models of esophageal mucosa damage. Acidic bile salts and pepsin cocktail (BSC) added to CP-A and COLO-680 N esophagus cells were used as an in vitro GERD mo…

0301 basic medicineEsophageal MucosaHyaluronic acidRM1-950PharmacologyPermeability03 medical and health scienceschemistry.chemical_compound0302 clinical medicinePepsinCell Line TumorDigestive disorderHyaluronic acidMedicineHumansRegenerationEsophagusAmino AcidsHyaluronic AcidEvans BlueMedical devicePharmacologybiologybusiness.industryBioadhesive polymer; Gastroesophageal reflux disease (GERD); Hyaluronic acid; Medical device; Rice extractPlant ExtractsRice extractAdhesivenessOryzaGeneral MedicineBioadhesive polymermedicine.diseaseGastroesophageal reflux disease (GERD)digestive system diseases030104 developmental biologymedicine.anatomical_structurechemistryEquipment and Supplies030220 oncology & carcinogenesisbiology.proteinGERDGastroesophageal RefluxTherapeutics. PharmacologybusinessWound healingEx vivoBiomedicinepharmacotherapy = Biomedecinepharmacotherapie
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A TRAPPC6B splicing variant associates to restless legs syndrome

2016

Abstract INTRODUCTION: RLS is a common movement disorders with a strong genetic component in its pathophysiology, but, up to now, no causative mutation has been reported. METHODS: We re-evaluated the previously described RLS2 family by exome sequencing. RESULTS: We identified fifteen variations in the 14q critical region. The c.485G > A transition of the TRAPPC6B gene segregates with the RLS2 haplotype, is absent in 200 local controls and is extremely rare in 12988 exomes from the Exome Variant Server (EVS). This variant alters a splicing site and hampers the normal transcript processing by promoting exon 3-skipping as demonstrated by minigene transfection and by patient transcripts. CON…

0301 basic medicineExome sequencingMaleVesicular Transport ProteinsLocus (genetics)VariationGene mutationBiologySplicingTransfection03 medical and health sciencesExonGene FrequencyRLSRestless Legs SyndromeAnimalsHumansGenetic Predisposition to DiseaseRNA MessengerRestless legs syndromeExomeExome sequencingMovement disorderCells CulturedGeneticsChromosomes Human Pair 14Family HealthSleep disorderHaplotypeExonsRats030104 developmental biologyAuthors report no disclosureNeurologyHaplotypesRNA splicingMutationFemaleNeurology (clinical)Geriatrics and GerontologyNeurological diseaseMinigene
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Autism is a prenatal disorder: Evidence from late gestation brain overgrowth

2018

This retrospective study aimed to specify the critical period for atypical brain development in individuals with autism spectrum disorder (ASD) using prenatal and postnatal head growth parameters. The sample consisted of 80 Caucasian, unrelated, idiopathic patients with ASD born after 1995. Fetal ultrasound parameters (head circumference [HC], abdominal circumference, and femur length) were obtained during the second and third trimesters of gestation. HC at birth and postnatal parameters at 12 and 24 months of age were also collected. Head overgrowth, assessed by HC, was highlighted during the second (20-26 weeks of amenorrhea) and third (28-36 weeks of amenorrhea) trimesters. Normal growth…

0301 basic medicineFetusPediatricsmedicine.medical_specialtybusiness.industryGeneral Neurosciencemedicine.disease03 medical and health sciences030104 developmental biology0302 clinical medicineNeurodevelopmental disorderAutism spectrum disorderIn uteromedicineGestationAutismAmenorrheaNeurology (clinical)medicine.symptombusinessPathological030217 neurology & neurosurgeryGenetics (clinical)Autism Research
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A specific prelimbic-nucleus accumbens pathway controls resilience versus vulnerability to food addiction

2019

Food addiction is linked to obesity and eating disorders and is characterized by a loss of behavioral control and compulsive food intake. Here, using a food addiction mouse model, we report that the lack of cannabinoid type-1 receptor in dorsal telencephalic glutamatergic neurons prevents the development of food addiction-like behavior, which is associated with enhanced synaptic excitatory transmission in the medial prefrontal cortex (mPFC) and in the nucleus accumbens (NAc). In contrast, chemogenetic inhibition of neuronal activity in the mPFC-NAc pathway induces compulsive food seeking. Transcriptomic analysis and genetic manipulation identified that increased dopamine D2 receptor express…

0301 basic medicineFood addictionSciencemedicine.medical_treatmentPrefrontal CortexAddictionGeneral Physics and AstronomyNucleus accumbensNeurotransmissionBiologySynaptic TransmissionNucleus AccumbensArticleGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesGlutamatergic0302 clinical medicineReceptor Cannabinoid CB1Dopamine receptor D2Behavioural genetics ; AddictionNeural Pathwaysmental disordersmedicineAnimalsPremovement neuronal activitylcsh:SciencePrefrontal cortexMice KnockoutMultidisciplinaryReceptors Dopamine D2Gene Expression ProfilingQdigestive oral and skin physiologyFeeding BehaviorGeneral ChemistryUp-RegulationDisease Models Animal030104 developmental biologyGene Expression RegulationBehavioural geneticslcsh:QFood AddictionCannabinoidNeuroscience030217 neurology & neurosurgery
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Increased Motor-Impairing Effects of the Neuroactive Steroid Pregnanolone in Mice with Targeted Inactivation of the GABAA Receptor γ2 Subunit in the …

2016

Endogenous neurosteroids and neuroactive steroids have potent and widespread actions on the brain via inhibitory GABAA receptors. In recombinant receptors and genetic mouse models their actions depend on the α, β, and δ subunits of the receptor, especially on those that form extrasynaptic GABAA receptors responsible for non-synaptic (tonic) inhibition, but they also act on synaptically enriched γ2 subunit-containing receptors and even on αβ binary receptors. Here we tested whether behavioral sensitivity to the neuroactive steroid agonist 5β-pregnan-3α-ol-20-one is altered in genetically engineered mouse models that have deficient GABAA receptor-mediated synaptic inhibition in selected neuro…

0301 basic medicineGAMMA-2-SUBUNITCerebellumNeuroactive steroidcerebellumDISORDERSPurkinje cellINHIBITIONBiologyPharmacologyGABAA-rho receptor03 medical and health scienceschemistry.chemical_compound0302 clinical medicineCRE RECOMBINASE EXPRESSIONmedicinePharmacology (medical)Pharmacology & PharmacyReceptorPARVALBUMIN-POSITIVE INTERNEURONSIN-VIVOOriginal ResearchPregnanolonePharmacologyScience & TechnologyGABAA receptorAllopregnanolonelcsh:RM1-950POINT MUTATIONA RECEPTORS3. Good health030104 developmental biologymedicine.anatomical_structurelcsh:Therapeutics. Pharmacologychemistrynervous systemPurkinje cellsALLOPREGNANOLONEextrasynaptic GABAA receptorsmotor performance1115 Pharmacology And Pharmaceutical Sciences3111 BiomedicineneurosteroidsLife Sciences & Biomedicine030217 neurology & neurosurgeryextrasynaptic GABA(A) receptors
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