2020
Using supervised machine learning on neuropsychological data to distinguish OCD patients with and without sensory phenomena from healthy controls
Stamatis C, Batistuzzo M, Tanamatis T, Miguel E, Hoexter M, Timpano K. Using supervised machine learning on neuropsychological data to distinguish OCD patients with and without sensory phenomena from healthy controls. British Journal Of Clinical Psychology 2020, 60: 77-98. PMID: 33300635, DOI: 10.1111/bjc.12272.Peer-Reviewed Original ResearchMeSH KeywordsAdultCase-Control StudiesFemaleHumansMachine LearningMaleNeuropsychological TestsObsessive-Compulsive DisorderSupervised Machine LearningConceptsObsessive-compulsive disorderNeuropsychological literatureNeuropsychological processesSensory phenomenaOCD patientsDistinct cognitive processesDifferent cognitive profilesExecutive function deficitsDistinct neuropsychological featuresCognitive processesNeuropsychological paradigmsCognitive profileNeuropsychological dataFunction deficitsNeuropsychological featuresHealthy controlsMultiple analytic approachesPatient subsampleSymptom presentationCommon experienceSymptom-based approachEmpirical findingsDistinct drivesRisk sensitivityMotivationToward identifying reproducible brain signatures of obsessive-compulsive profiles: rationale and methods for a new global initiative
Simpson H, van den Heuvel O, Miguel E, Reddy Y, Stein D, Lewis-Fernández R, Shavitt R, Lochner C, Pouwels P, Narayanawamy J, Venkatasubramanian G, Hezel D, Vriend C, Batistuzzo M, Hoexter M, de Joode N, Costa D, de Mathis M, Sheshachala K, Narayan M, van Balkom A, Batelaan N, Venkataram S, Cherian A, Marincowitz C, Pannekoek N, Stovezky Y, Mare K, Liu F, Otaduy M, Pastorello B, Rao R, Katechis M, Van Meter P, Wall M. Toward identifying reproducible brain signatures of obsessive-compulsive profiles: rationale and methods for a new global initiative. BMC Psychiatry 2020, 20: 68. PMID: 32059696, PMCID: PMC7023814, DOI: 10.1186/s12888-020-2439-2.Peer-Reviewed Original ResearchConceptsMagnetic resonance imagingCircuit abnormalitiesNew global initiativesBrain signaturesGlobal InitiativeHealthy control subjectsMedication-free adultsMultiple brain circuitsMedication-free subjectsBackgroundObsessive–compulsive disorderClinical profileClinical symptomsControl subjectsClinical evaluationHealthy controlsLeading causeGlobal disabilityLifetime prevalenceResonance imagingNeurocognitive assessmentBrain circuitsImaging signaturesFunctional connectivityBrain-behavior associationsDisease dimensions
2019
Initial findings of striatum tripartite model in OCD brain samples based on transcriptome analysis
Lisboa B, Oliveira K, Tahira A, Barbosa A, Feltrin A, Gouveia G, Lima L, Feio dos Santos A, Martins D, Puga R, Moretto A, De Bragança Pereira C, Lafer B, Leite R, Ferretti-Rebustini R, Farfel J, Grinberg L, Jacob-Filho W, Miguel E, Hoexter M, Brentani H. Initial findings of striatum tripartite model in OCD brain samples based on transcriptome analysis. Scientific Reports 2019, 9: 3086. PMID: 30816141, PMCID: PMC6395771, DOI: 10.1038/s41598-019-38965-1.Peer-Reviewed Original ResearchConceptsObsessive-compulsive disorderSynaptic transmissionPathophysiology of OCDDifferent striatal subregionsPostmortem brain tissueChemical synaptic transmissionStriatal areasCortico-striatoNeurotransmitter levelsStriatum regionThalamic circuitryStriatal subregionsSubregion specificityPsychiatric disordersPresynaptic processesSynaptic plasticityBrain samplesOCD pathophysiologyBrain tissueCSTC modelControl casesPathophysiologyRare variantsDisordersCellular responses
2018
Layer-specific reduced neuronal density in the orbitofrontal cortex of older adults with obsessive–compulsive disorder
de Oliveira K, Grinberg L, Hoexter M, Brentani H, Suemoto C, Nery F, Lima L, Alho A, Farfel J, Ferretti-Rebustini R, Leite R, Moretto A, da Silva A, Lafer B, Miguel E, Nitrini R, Jacob-Filho W, Heinsen H, Pasqualucci C. Layer-specific reduced neuronal density in the orbitofrontal cortex of older adults with obsessive–compulsive disorder. Brain Structure And Function 2018, 224: 191-203. PMID: 30298291, DOI: 10.1007/s00429-018-1752-8.Peer-Reviewed Original ResearchConceptsObsessive-compulsive disorderMedial orbitofrontalOrbitofrontal cortexNeuronal densityOCD casesLower neuron densityCortical-subcortical circuitryOFC abnormalitiesEfferent targetsNeuron densityClinical evaluationAnterolateral areaControl groupCognitive impairmentAutopsy serviceOrbitofrontal regionsAnteromedialOlder adultsControl casesOFC areasCortexConsistent evidenceDisordersCellular levelTotal
2016
Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways
Cappi C, Brentani H, Lima L, Sanders SJ, Zai G, Diniz BJ, Reis VN, Hounie AG, Conceição do Rosário M, Mariani D, Requena GL, Puga R, Souza-Duran FL, Shavitt RG, Pauls DL, Miguel EC, Fernandez TV. Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways. Translational Psychiatry 2016, 6: e764-e764. PMID: 27023170, PMCID: PMC4872454, DOI: 10.1038/tp.2016.30.Peer-Reviewed Original ResearchConceptsSingle nucleotide variantsPPI networkPathway analysisProtein-protein interaction networkGenome-wide association studiesNovo single nucleotide variantsParticular biological pathwaysRare genetic variationDisease gene prioritizationDirect molecular interactionWhole-exome sequencing studiesGene discoveryNetwork genesSpecific risk genesNetwork enrichmentGenetic variationInteraction networksGene prioritizationCandidate genesAssociation studiesBiological pathwaysSequencing platformsSequencing studiesWhole-exome sequencingGenes
2014
An Inherited Small Microdeletion at 15q13.3 in a Patient with Early- Onset Obsessive-Compulsive Disorder
Cappi C, Hounie A, Mariani D, Diniz J, Silva A, Reis V, Busso A, Silva A, Fidalgo F, Rogatto S, Miguel E, Krepischi A, Brentani H. An Inherited Small Microdeletion at 15q13.3 in a Patient with Early- Onset Obsessive-Compulsive Disorder. PLOS ONE 2014, 9: e110198. PMID: 25303678, PMCID: PMC4193873, DOI: 10.1371/journal.pone.0110198.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAge of OnsetCase-Control StudiesChildChild, PreschoolChromosome DeletionChromosomes, Human, Pair 15Comparative Genomic HybridizationDNA Copy Number VariationsFetal ProteinsForminsGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMicrofilament ProteinsNuclear ProteinsObsessive-Compulsive DisorderConceptsObsessive-compulsive disorderOnset obsessive-compulsive disorderEarly-onset obsessive-compulsive disorderAttention deficit hyperactivity disorderArray-based comparative genomic hybridizationNeurodevelopmental psychiatric disordersDeficit hyperactivity disorderGlutamatergic involvementMale patientsGlutamatergic systemPsychiatric disordersHealthy individualsPatientsHyperactivity disorderGenetic riskComparative genomic hybridizationDisordersSmall microdeletionsChromosome 15q13.3Present studyGenomic hybridizationMicrodeletionCohortMulticenter Voxel-Based Morphometry Mega-Analysis of Structural Brain Scans in Obsessive-Compulsive Disorder
de Wit S, Alonso P, Schweren L, Mataix-Cols D, Lochner C, Menchón J, Stein D, Fouche J, Soriano-Mas C, Sato J, Hoexter M, Denys D, Nakamae T, Nishida S, Kwon J, Jang J, Busatto G, Cardoner N, Cath D, Fukui K, Jung W, Kim S, Miguel E, Narumoto J, Phillips M, Pujol J, Remijnse P, Sakai Y, Shin N, Yamada K, Veltman D, van den Heuvel O. Multicenter Voxel-Based Morphometry Mega-Analysis of Structural Brain Scans in Obsessive-Compulsive Disorder. American Journal Of Psychiatry 2014, 171: 340-349. PMID: 24220667, DOI: 10.1176/appi.ajp.2013.13040574.Peer-Reviewed Original ResearchConceptsHealthy comparison subjectsObsessive-compulsive disorderOCD patientsHealthy subjectsComparison subjectsGreater cerebellar gray matter volumeMatter volumeStructural T1-weighted MRI scansWhite matter brain volumesWhite matter volume differencesT1-weighted MRI scansWhite matter volumePrevious smaller studiesStructural brain scansGray matter volumeVoxel-based morphometryAdult OCD patientsCerebellar gray matter volumeAnterior cingulate cortexAltered neuroplasticityClinical variablesInferior frontal gyrusCognitive dysfunctionDorsomedial prefrontal cortexTemporal cortex
2012
Genome-wide association study of obsessive-compulsive disorder
Stewart SE, Yu D, Scharf JM, Neale BM, Fagerness JA, Mathews CA, Arnold PD, Evans PD, Gamazon ER, Osiecki L, McGrath L, Haddad S, Crane J, Hezel D, Illman C, Mayerfeld C, Konkashbaev A, Liu C, Pluzhnikov A, Tikhomirov A, Edlund C, Rauch S, Moessner R, Falkai P, Maier W, Ruhrmann S, Grabe H, Lennertz L, Wagner M, Bellodi L, Cavallini M, Richter M, Cook E, Kennedy J, Rosenberg D, Stein D, Hemmings S, Lochner C, Azzam A, Chavira D, Fournier E, Garrido H, Sheppard B, Umaña P, Murphy D, Wendland J, Veenstra-VanderWeele J, Denys D, Blom R, Deforce D, Van Nieuwerburgh F, Westenberg H, Walitza S, Egberts K, Renner T, Miguel E, Cappi C, Hounie A, Conceição do Rosário M, Sampaio A, Vallada H, Nicolini H, Lanzagorta N, Camarena B, Delorme R, Leboyer M, Pato C, Pato M, Voyiaziakis E, Heutink P, Cath D, Posthuma D, Smit J, Samuels J, Bienvenu O, Cullen B, Fyer A, Grados M, Greenberg B, McCracken J, Riddle M, Wang Y, Coric V, Leckman J, Bloch M, Pittenger C, Eapen V, Black D, Ophoff R, Strengman E, Cusi D, Turiel M, Frau F, Macciardi F, Gibbs J, Cookson M, Singleton A, Hardy J, Crenshaw A, Parkin M, Mirel D, Conti D, Purcell S, Nestadt G, Hanna G, Jenike M, Knowles J, Cox N, Pauls D. Genome-wide association study of obsessive-compulsive disorder. Molecular Psychiatry 2012, 18: 788-798. PMID: 22889921, PMCID: PMC4218751, DOI: 10.1038/mp.2012.85.Peer-Reviewed Original ResearchConceptsExpression quantitative trait lociSingle nucleotide polymorphismsGenome-wide significant levelGenome-wide significance thresholdX-chromosome single nucleotide polymorphismsGenome-wide association studiesTrio-based analysisQuantitative trait lociAncestry-matched controlsComplex genetic etiologyTrait lociCase-control association analysisMethylation QTLsGenetic variationGene expressionAssociation studiesTop signalsAssociation analysisBroader roleSignificant enrichmentSNP microarraysCase-control sampleNucleotide polymorphismsGenetic etiologySignificance thresholdAssociation study between functional polymorphisms in the TNF-alpha gene and obsessive-compulsive disorder
Cappi C, Muniz R, Sampaio A, Cordeiro Q, Brentani H, Palácios S, Marques A, Vallada H, Miguel E, Guilherme L, Hounie A. Association study between functional polymorphisms in the TNF-alpha gene and obsessive-compulsive disorder. Arquivos De Neuro-Psiquiatria 2012, 70: 87-90. PMID: 22311210, PMCID: PMC4479271, DOI: 10.1590/s0004-282x2012000200003.Peer-Reviewed Original ResearchConceptsObsessive-compulsive disorderImmune systemTumor necrosis factor alpha genePrevalent psychiatric disordersInflammatory cytokine genesNecrosis factor alpha geneTNF-alpha geneRs361525 polymorphismUnknown etiologyHealthy controlsPsychiatric disordersCytokine genesA alleleFunctional polymorphismsOCD patientsOCD subjectsDisordersPathogenesisPLINK softwarePresent studyPolymorphismAdditional evidenceAssociation studiesPatientsEtiology
2011
Skin picking and trichotillomania in adults with obsessive-compulsive disorder
Lovato L, Ferrão Y, Stein D, Shavitt R, Fontenelle L, Vivan A, Miguel E, Cordioli A. Skin picking and trichotillomania in adults with obsessive-compulsive disorder. Comprehensive Psychiatry 2011, 53: 562-568. PMID: 22014580, DOI: 10.1016/j.comppsych.2011.06.008.Peer-Reviewed Original ResearchConceptsPathologic skin pickingObsessive-compulsive disorderSkin pickingFourth Edition Axis IEdition Axis IStructured Clinical InterviewLogistic regression analysisComorbid body dysmorphic disorderBody dysmorphic disorderClinical characteristicsSuch comorbiditiesPrimary diagnosisAxis IClinical InterviewSpecific subgroupsMental disordersDysmorphic disorderStatistical ManualTrichotillomaniaDisordersCompulsive symptomsPatientsRegression analysisDiagnosisHigh levelsSensory Gating Scales and Premonitory Urges in Tourette Syndrome
Owens A, Miguel E, Swerdlow N. Sensory Gating Scales and Premonitory Urges in Tourette Syndrome. The Scientific World JOURNAL 2011, 11: 736-741. PMID: 21442151, PMCID: PMC5548288, DOI: 10.1100/tsw.2011.57.Peer-Reviewed Original Research
2009
Association study between the -62A/T NFKBIL1 polymorphism and obsessive-compulsive disorder
Cordeiro Q, Cappi C, Sampaio A, Palácios S, de Bragança Pereira C, Shavitt R, Miguel E, Guilherme L, Hounie A. Association study between the -62A/T NFKBIL1 polymorphism and obsessive-compulsive disorder. Brazilian Journal Of Psychiatry 2009, 31: 131-135. PMID: 19578685, DOI: 10.1590/s1516-44462009000200009.Peer-Reviewed Original Research
2008
Anxiety Disorders and Rheumatic Fever: Is There an Association?
Seixas A, Hounie A, Fossaluza V, Curi M, Alvarenga P, De Mathis M, De Mathis M, Vallada H, Pauls D, de Bragança Pereira C, Miguel E. Anxiety Disorders and Rheumatic Fever: Is There an Association? CNS Spectrums 2008, 13: 1039-1046. PMID: 19179939, DOI: 10.1017/s1092852900017090.Peer-Reviewed Original ResearchConceptsFirst-degree relativesRheumatic feverObsessive-compulsive spectrum disordersObsessive-compulsive disorderAnxiety disordersFamily membersCase-control family studyRates of disorderRelatives of individualsPoisson regression modelsRF patientsSydenham's choreaSeparation anxiety disorderPsychiatric interviewPossible familial relationshipControl probandsRelated disordersDisordersFamilial aggregationFurther studiesPatientsChoreaFeverOCD spectrumFamily studiesTNF-alpha polymorphisms are associated with obsessive-compulsive disorder
Hounie A, Cappi C, Cordeiro Q, Sampaio A, Moraes I, do Rosário M, Palácios S, Goldberg A, Vallada H, Machado-Lima A, Nakano E, Kalil J, Pauls D, Pereira C, Guilherme L, Miguel E. TNF-alpha polymorphisms are associated with obsessive-compulsive disorder. Neuroscience Letters 2008, 442: 86-90. PMID: 18639610, DOI: 10.1016/j.neulet.2008.07.022.Peer-Reviewed Original Research
2007
Association analysis between a VNTR intron 8 polymorphism of the dopamine transporter gene (SLC6A3) and obsessive- compulsive disorder in a Brazilian sample
Miguita K, Cordeiro Q, Siqueira-Roberto J, Shavitt R, Castillo J, Castillo A, Miguel E, Vallada H. Association analysis between a VNTR intron 8 polymorphism of the dopamine transporter gene (SLC6A3) and obsessive- compulsive disorder in a Brazilian sample. Arquivos De Neuro-Psiquiatria 2007, 65: 936-941. PMID: 18094849, DOI: 10.1590/s0004-282x2007000600002.Peer-Reviewed Original Research
2006
Association study between the 1287 A/G exonic polymorphism of the norepinephrine transporter (NET) gene and obsessive-compulsive disorder in a Brazilian sample
Miguita K, Cordeiro Q, Shavitt R, Miguel E, Vallada H. Association study between the 1287 A/G exonic polymorphism of the norepinephrine transporter (NET) gene and obsessive-compulsive disorder in a Brazilian sample. Brazilian Journal Of Psychiatry 2006, 28: 158-159. PMID: 16810402, DOI: 10.1590/s1516-44462006000200017.Peer-Reviewed Original ResearchClinical features associated to refractory obsessive–compulsive disorder
Ferrão Y, Shavitt R, Bedin N, de Mathis M, Lopes A, Fontenelle L, Torres A, Miguel E. Clinical features associated to refractory obsessive–compulsive disorder. Journal Of Affective Disorders 2006, 94: 199-209. PMID: 16764938, DOI: 10.1016/j.jad.2006.04.019.Peer-Reviewed Original ResearchAdultBrazilCase-Control StudiesChronic DiseaseCodependency, PsychologicalCognitive Behavioral TherapyCombined Modality TherapyComorbidityElectroconvulsive TherapyFemaleHospitalizationHumansMaleMental DisordersMiddle AgedObsessive-Compulsive DisorderQuality of LifeSelective Serotonin Reuptake InhibitorsSocioeconomic FactorsTreatment FailureObsessive-Compulsive Spectrum Disorders and Rheumatic Fever: A Family Study
Hounie A, Pauls D, do Rosario-Campos M, Mercadante M, Diniz J, De Mathis M, De Mathis M, Chacon P, Shavitt R, Curi M, Guilherme L, Miguel E. Obsessive-Compulsive Spectrum Disorders and Rheumatic Fever: A Family Study. Biological Psychiatry 2006, 61: 266-272. PMID: 16616727, DOI: 10.1016/j.biopsych.2006.02.021.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultBacterial ProteinsCase-Control StudiesChildData Interpretation, StatisticalFamilyFemaleHumansInterview, PsychologicalLogistic ModelsMaleObserver VariationObsessive-Compulsive DisorderOdds RatioPsychiatric Status Rating ScalesRheumatic FeverRiskStreptococcal InfectionsStreptolysinsConceptsFirst-degree relativesRheumatic feverObsessive-compulsive spectrum disordersSydenham's choreaFDRs of controlsStructured psychiatric interviewUnderlying etiologic mechanismsCase-control family studyFamily studiesControl first-degree relativesBest-estimate diagnosesHigh rateRF patientsCompulsive spectrum disordersOdds ratioMorbid riskEtiologic mechanismsPsychiatric interviewSpectrum disorderLogistic regressionProbandsFeverPatientsChoreaDiagnosis
2003
Association analysis of the catechol‐o‐methyltransferase (COMT ), serotonin transporter (5‐HTT ) and serotonin 2A receptor (5HT2A) gene polymorphisms with obsessive‐compulsive disorder
Meira‐Lima I, Shavitt R, Miguita K, Ikenaga E, Miguel E, Vallada H. Association analysis of the catechol‐o‐methyltransferase (COMT ), serotonin transporter (5‐HTT ) and serotonin 2A receptor (5HT2A) gene polymorphisms with obsessive‐compulsive disorder. Genes Brain & Behavior 2003, 3: 75-79. PMID: 15005715, DOI: 10.1046/j.1601-1848.2003.0042.x.Peer-Reviewed Original ResearchMeSH KeywordsAdultAmino Acid SubstitutionCarrier ProteinsCase-Control StudiesCatechol O-MethyltransferaseFemaleGene FrequencyHumansMaleMembrane GlycoproteinsMembrane Transport ProteinsNerve Tissue ProteinsObsessive-Compulsive DisorderPolymorphism, GeneticReceptor, Serotonin, 5-HT2AReference ValuesRegulatory Sequences, Nucleic AcidSerotonin Plasma Membrane Transport ProteinsConceptsObsessive-compulsive disorderGene polymorphismsT variantOCD patientsSerotonin receptor type 2A geneSerotonin-2A receptor gene polymorphismCross-sectional studyReceptor gene polymorphismsStrong genetic factorGenetic risk factorsControl subjectsRisk factorsDopaminergic systemDisease pathogenesisControl groupSerotonin transporter genePharmacological studiesPatientsGenetic factorsGenotypic distributionPrecise mechanismSignificant differencesFurther studiesCOMT geneFrequency of allelesObsessive-Compulsive Symptoms, Obsessive-Compulsive Disorder, and Related Disorders in Parkinson's Disease
Maia A, Pinto A, Barbosa E, Menezes P, Miguel E. Obsessive-Compulsive Symptoms, Obsessive-Compulsive Disorder, and Related Disorders in Parkinson's Disease. Journal Of Neuropsychiatry 2003, 15: 371-374. PMID: 12928516, DOI: 10.1176/jnp.15.3.371.Peer-Reviewed Original ResearchMeSH KeywordsAgedCase-Control StudiesComorbidityDiagnosis, DifferentialFemaleFunctional LateralityHumansMaleMiddle AgedObsessive-Compulsive DisorderParkinson DiseasePersonality InventoryPsychiatric Status Rating ScalesReproducibility of ResultsSomatoform DisordersStereotyped BehaviorTic DisordersTourette SyndromeTrichotillomania