A perturbação obsessiva-compulsiva (POC) (português europeu) ou transtorno obsessivo-compulsivo (TOC) (português brasileiro) é uma perturbação mental caracterizada por obsessões e compulsões. As obsessões são pensamentos, impulsos ou imagens recorrentes que provocam na pessoa ansiedade ou mal-estar. A pessoa sente a necessidade de ignorar ou suprimir a ansiedade causada por essas obsessões através de pensamentos, rotinas ou atividades repetitivas denominadas compulsões ou rituais. As obsessões mais comuns são o medo de contaminação por germes, sujidade ou produtos químicos, medo de contrair uma doença, medo de prejudicar outras pessoas de forma acidental ou intencional ou medo de cometer um erro grave.
Introdução
O que você precisa saber de cara
Síndrome Goodman é uma doença genética rara caracterizada por deficiência intelectual, atraso no desenvolvimento, hipotonia e dismorfias faciais. Frequentemente associada a problemas de visão e audição.
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Genética e causas
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Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
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🇧🇷 Atendimento SUS — Síndrome Goodman
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Initial sites of SIV rebound after antiretroviral treatment cessation in rhesus macaques.
The tissue origin(s) and the earliest viral dynamics of HIV rebound after antiretroviral therapy (ART) remain unclear. Here, using barcoded SIVmac239 in rhesus macaques (n = 24), we defined the distribution of barcode-specific viral RNA expression in tissues during ART (n = 6) and then assessed initial clonal rebound 5 and 7 days after ART cessation by identifying barcodes in individual tissues that exceeded the 99th percentile of the on-ART distribution ('outliers'). In 4 of 11 aviraemic and 6 of 7 viraemic animals, 32 such outlier barcodes were identified. Sixteen of these barcodes were also identified in rebound viraemia, confirming specific tissues as rebound origin and early amplification sites. Overall, 27 of the 32 outlier barcodes were determined to reflect rebound origins, of which 96% were in the gastrointestinal tract (26%) or gastrointestinal tract-associated lymphoid tissues (70%). These results indicate that distinct tissue sites differentially support post-ART viral rebound, with potential therapeutic implications for interventions designed to prevent or control these events.
Biomarkers in Irritable Bowel Syndrome: Rationale and Practical Use.
Irritable bowel syndrome (IBS) is currently diagnosed based on symptoms and limited diagnostic testing, highlighting the need for noninvasive biomarkers and personalized therapies. Emerging blood-based biomarkers such as cytolethal distending toxin B and antivinculin antibodies, DNA methylation profiles, and intestinal permeability measures, along with stool-based microbiome and metabolite markers, show promise in distinguishing IBS, and its bowel habit subtypes, from other gastrointestinal disorders with overlapping symptoms. Additionally, stool-based biomarkers and breath tests may also predict response to interventions, like the low fermentable oligosaccharides, disaccharides, monosaccharides, and polyols diet, and rifaximin, supporting more personalized treatment strategies.
Autoimmune HLA alleles and neoantigens predict myelodysplastic syndrome outcomes after allogeneic HSCT: A CIBMTR analysis.
Allogeneic hematopoietic stem cell transplantation (allo-HSCT) offers curative potential for myelodysplastic syndrome (MDS), despite treatment-related mortality and relapse. We investigated how autoimmune human leukocyte antigen (HLA) alleles and mutanome-derived neoantigens influence post-transplantation outcomes. Donor and recipient HLA alleles, somatic mutations (508 genes; exome sequencing) and clinical covariates (N = 494 patients post-allo-HSCT [CIBMTR]) were evaluated. Class-I autoimmune alleles correlated with longer relapse-free survival (HR = 0.657, p = 0.011) (overall survival [OS]; HR = 0.787, p = 0.075). Improved calculated major histocompatibility complex-II (MHC-II) presentation of mutanome-derived neoantigens by donor HLA type correlated with longer OS (HR = 0.876, p = 0.034) (relapse-free survival; HR = 0.887, p = 0.083). Class-I auto-immune alleles plus chronic graft-versus-host disease (GVHD) enhanced the benefit of chronic GVHD alone for relapse-free survival (HR = 0.289, p < 0.001 vs. HR = 0.574, p = 0.031; comparison p = 0.021). Therefore, both autoimmune alleles and improved mutanome-derived neoantigen presentation correlated significantly and independently with relapse-free and OS, respectively, in a large multicenter group of MDS patients post-allo-HSCT. These factors warrant additional investigation for patient/donor selection.
Pediatric Malignancy in the Setting of Lynch Syndrome: A Case Series and Review of the Literature.
Lynch Syndrome (LS) is a hereditary cancer predisposition syndrome caused by germline pathogenic/likely pathogenic variants in mismatch repair (MMR) genes. While LS is not traditionally thought to increase childhood cancer risk, some studies have shown an increased prevalence of germline MMR variants in the pediatric oncology population. Herein, we discuss 55 individuals with pediatric cancer and LS. Of these, MSH2 was the most common germline change (36%). Of those tested for loss of heterozygosity (LOH) or microsatellite instability (MSI), the majority had LOH present (78%) and were MSI high (71%), suggesting the contribution of LS to oncogenesis in these individuals.
Autonomic nervous system autoimmunity and proposed immunotherapies.
Autoimmune autonomic disorders are common, though often under-recognized, and suboptimally understood. Autonomic nervous system impairment may result from immune-mediated damage to central or peripheral autonomic pathways, and typically involve both sympathetic and parasympathetic systems, as well as the enteric nervous system. Various autoimmune conditions may primarily involve the autonomic nervous system, as in autoimmune autonomic ganglionopathy associated with ganglionic nicotinic acetylcholine receptor antibodies or may involve autonomic systems as part of a multisystem neurologic process with or without underlying malignancy, or autonomic nerves may be targeted in systemic autoimmunity as is seen with Sjögren's syndrome. A careful history and diagnostic evaluation is necessary to determine the type, distribution, and severity of dysautonomia; which may be generalized or more restricted in nature. An understanding of potential autonomic features in the various autoimmune autonomic disorders can help to provide diagnostic clarity, and recognition of autonomic signs and symptoms is necessary to direct symptomatic and immunotherapeutic decisions in these patients.
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American journal of medical genetics. Part APost-acute COVID-19 neuropsychiatric symptoms are not associated with ongoing nervous system injury.
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International journal of women's dermatologyTreatment of Refractory Low Back Pain Using Passive Recharge Burst in Patients Without Options for Corrective Surgery: Findings and Results From the DISTINCT Study, a Prospective Randomized Multicenter Controlled Trial.
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CirculationIleal Dysbiosis Is Associated with Increased Acoustic Startle in the 22q11.2 Microdeletion Mouse Model of Schizophrenia.
NutrientsSemi-supervised exercise training program more effective for individuals with postural orthostatic tachycardia syndrome in randomized controlled trial.
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Leukemia & lymphomaCold and warmth intensify pain-linked sodium channel gating effects and persistent currents.
The Journal of general physiologyThe Association Between a Mediterranean Diet and Symptoms of Irritable Bowel Syndrome.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological AssociationBiomarkers of immune checkpoint inhibitor response and toxicity: Challenges and opportunities.
Immunological reviewsDetection of the clinically persistent, pathogenic yeast spp. Candida auris from hospital and municipal wastewater in Miami-Dade County, Florida.
The Science of the total environmentOutcomes Among Patients Hospitalized With Non-COVID-19 Conditions Before and During the COVID-19 Pandemic in Alberta and Ontario, Canada.
JAMA network openProgranulin is an FMRP target that influences macroorchidism but not behaviour in a mouse model of Fragile X Syndrome.
Current research in neurobiologyResearching COVID to Enhance Recovery (RECOVER) adult study protocol: Rationale, objectives, and design.
PloS oneGenetic Susceptibility to Nonalcoholic Fatty Liver Disease and Risk for Pancreatic Cancer: Mendelian Randomization.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive OncologyParticipant perceptions of changes in psychosocial domains following participation in an adaptive deep brain stimulation trial.
Brain stimulationEffect of alirocumab on cataracts in patients with acute coronary syndromes.
BMC ophthalmologyEffectiveness of GRACE risk score in patients admitted to hospital with non-ST elevation acute coronary syndrome (UKGRIS): parallel group cluster randomised controlled trial.
BMJ (Clinical research ed.)Redox Dysregulation of Vascular Smooth Muscle Sirtuin-1 in Thoracic Aortic Aneurysm in Marfan Syndrome.
Arteriosclerosis, thrombosis, and vascular biologyProtocol for WeExPAnd: a prospective, mixed-methods pilot demonstration study to increase access to pre-exposure prophylaxis among women vulnerable to HIV infection in the Southern USA.
BMJ openDevelopment of a Definition of Postacute Sequelae of SARS-CoV-2 Infection.
JAMACardiac complications in children with acute COVID-19 vs multisystem inflammatory syndrome in children (MIS-C).
American heart journalFuture directions in psychiatric neurosurgery: Proceedings of the 2022 American Society for Stereotactic and Functional Neurosurgery meeting on surgical neuromodulation for psychiatric disorders.
Brain stimulationRisk Factors for Unplanned Returns to the Operating Room in Pediatric Trauma Patients.
The American surgeonClinical, contextual and hospital-level factors associated with escalation and de-escalation of empiric Gram-negative antibiotics among US inpatients.
JAC-antimicrobial resistanceClinical Features and Risk Factors Associated With Multisystem Inflammatory Syndrome in Children With Cancer and COVID-19.
JAMA oncologyLipoprotein(a) and the Effect of Alirocumab on Revascularization After Acute Coronary Syndrome.
The Canadian journal of cardiologyCerebral revascularization surgery reduces cerebrovascular events in children with sickle cell disease and moyamoya syndrome: Results of the stroke in sickle cell revascularization surgery retrospective study.
Pediatric blood & cancerGenetic-Guided Oral P2Y12 Inhibitor Selection and Cumulative Ischemic Events After Percutaneous Coronary Intervention.
JACC. Cardiovascular interventionsDNA methylation signatures for chromatinopathies: current challenges and future applications.
Human geneticsThe combination of the enhanced liver fibrosis and FIB-4 scores to determine significant fibrosis in patients with nonalcoholic fatty liver disease.
Alimentary pharmacology & therapeuticsMultiple Perianal Epidermal Cysts Found in a Case of Lowe Syndrome: A Case Report and Review of the Literature.
The American journal of case reportsA case of dose-dependent Heiner syndrome.
The journal of allergy and clinical immunology. In practiceAntithrombotic therapies in Canadian atrial fibrillation patients with concomitant coronary artery disease: Insights from the CONNECT AF + PCI-II program.
Journal of cardiologyRace and Ethnicity With Atherosclerotic Cardiovascular Disease Outcomes Within a Universal Health Care System: Insights From the CARTaGENE Study.
The Canadian journal of cardiologyRandomized Trial of Anticoagulation Strategies for Noncritically Ill Patients Hospitalized With COVID-19.
Journal of the American College of CardiologyTransiently achieved very low LDL-cholesterol levels by statin and alirocumab after acute coronary syndrome are associated with cardiovascular risk reduction: the ODYSSEY OUTCOMES trial.
European heart journalOcular and inflammatory markers associated with Gulf War illness symptoms.
Scientific reportsDual-Target Deep Brain Stimulation for Obsessive-Compulsive Disorder and Tourette Syndrome.
Biological psychiatryDiabetes Mellitus in Pregnancy.
NeoReviewsEfficient Delivery of FMR1 across the Blood Brain Barrier Using AAVphp Construct in Adult FMR1 KO Mice Suggests the Feasibility of Gene Therapy for Fragile X Syndrome.
GenesAge of First Overweight and Obesity, COVID-19 and Long COVID in Two British Birth Cohorts.
Journal of epidemiology and global healthBrain evolution and the meaning of catatonia - An update.
Schizophrenia researchCase-Control Study Examining the Composition of the Gut Microbiome in Individuals With and Without Immune-Mediated Dry Eye.
CorneaRobustness of reported postacute health outcomes in children with SARS-CoV-2 infection: a systematic review.
Archives of disease in childhoodA global bibliometric analysis on Kawasaki disease research over the last 5 years (2017-2021).
Frontiers in public healthIt Is in the Eye of the Beholder: Ocular Ultrasound Enhanced Monitoring of Neurotoxicity after CAR-T Cell Therapy.
Hematology reportsClinical characteristics, impairment, and psychiatric morbidity in 102 youth with misophonia.
Journal of affective disordersDevelopment and Implementation of State and Federal Child Welfare Laws Related to Drug Use in Pregnancy.
The Milbank quarterlyRapid Community Engagement in Response to SARS-CoV-2 Funding Opportunities: New York City, 2020‒2021.
American journal of public healthDiet-induced modifications to human microbiome reshape colonic homeostasis in irritable bowel syndrome.
Cell reportsGeneration of DNA Methylation Signatures and Classification of Variants in Rare Neurodevelopmental Disorders Using EpigenCentral.
Current protocolsAllogeneic Hematopoietic Cell Transplantation after Chimeric Antigen Receptor T Cell Therapy in Large B Cell Lymphoma.
Transplantation and cellular therapyChronic Spontaneous Urticaria in Patients With Interstitial Cystitis/Bladder Pain Syndrome: Insights From Big Data Analyses.
UrologySurvival After Invasive or Conservative Management of Stable Coronary Disease.
CirculationMultimorbidity, functional impairment, and mortality in older patients stable after prior acute myocardial infarction: Insights from the TIGRIS registry.
Clinical cardiologyAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Initial sites of SIV rebound after antiretroviral treatment cessation in rhesus macaques.
- Biomarkers in Irritable Bowel Syndrome: Rationale and Practical Use.
- Autoimmune HLA alleles and neoantigens predict myelodysplastic syndrome outcomes after allogeneic HSCT: A CIBMTR analysis.
- Pediatric Malignancy in the Setting of Lynch Syndrome: A Case Series and Review of the Literature.
- Autonomic nervous system autoimmunity and proposed immunotherapies.
- Comparative efficacy of 1064 nm Q-Switched Nd:YAG laser and microneedling in treating atrophic acne scars: a retrospective study.
- N,N'-Di-Boc-N″-fluorosulfonyl-guanidine: A SuFEx-Enabled Guanylating Reagent (SuFEx-G) with Enhanced Reactivity on Water.
- Reliability and Validity Study of the Turkish Version of the Goodman Arthroplasty Satisfaction Score.
- From intersubjective correspondence to the counterpart relation-motifs from Carnap's Aufbau in Lewis's counterpart theory and his philosophical methodology.
- Association between obesity and mental health problems among Spanish children aged 9 and 12 years: the ELOIN study.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:65798(Orphanet)
- MONDO:0008711(MONDO)
- GARD:2549(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55781628(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
