Search results for "clinical cases"

showing 4 items of 4 documents

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

2020

Contains fulltext : 218274.pdf (Publisher’s version ) (Closed access) Genetic syndromes frequently present with overlapping clinical features and inconclusive or ambiguous genetic findings which can confound accurate diagnosis and clinical management. An expanding number of genetic syndromes have been shown to have unique genomic DNA methylation patterns (called "episignatures"). Peripheral blood episignatures can be used for diagnostic testing as well as for the interpretation of ambiguous genetic test results. We present here an approach to episignature mapping in 42 genetic syndromes, which has allowed the identification of 34 robust disease-specific episignatures. We examine emerging pa…

0301 basic medicine[SDV]Life Sciences [q-bio]Computational biology030105 genetics & heredityBiologyPediatricsArticleCohort Studiesmolecular diagnostics03 medical and health sciencessymbols.namesakeGenetic HeterogeneityGene duplicationGeneticsHumansHunter-McAlpine syndromeGenetics (clinical)Mass screening030304 developmental biologyEpiSignGenetics0303 health sciencesNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]DNA methylationGenetic heterogeneity030305 genetics & heredityCorrectionSyndromeDNA MethylationMolecular diagnosticsPhenotypePenetranceHuman genetics3. Good healthepisignaturegenomic DNA030104 developmental biologyPhenotypeNeurodevelopmental DisordersDNA methylationuncertain clinical casesMendelian inheritancesymbolsIdentification (biology)VUS classification
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Il fondamento epistemologico della psicoanalisi freudiana nei casi clinici del 1895

2019

Nel rivolgere lo sguardo all’intera produzione di Sigmund Freud, in primo luogo la memoria storica suggerisce di prestare attenzione al contenuto de L’interpretazione dei sogni (del 1899) e di Al di là del principio di piacere (del 1920). Il testo di queste due opere denota l’evoluzione epistemologica della ricerca svolta dal padre della psicoanalisi, sino a giungere alle opere della maturità. I concetti di «isteria», «ipnosi» e «metodo catartico » consentono di riscontrare l’assunzione definitiva del metodo maieutico, esposto negli scritti della maturità e degli ultimi anni. Mi riferisco in particolare, oltre a La negazione (del 1925), soprattutto a Analisi terminabile e interminabile e Co…

Freud psychoanalysis epistemology clinical cases interprertation of dreams hypnosis cathartic method hysteriaSettore M-FIL/06 - Storia Della Filosofia
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Lexical verbs in a medical case-report wordlist

2018

Clinical case reports or clinical cases (CRs) are, perhaps, the most widely read text type in medicine, since they contain a detailed description of the patient’s medical history and symptoms and thus furnish ample teaching material for physicians-in-training. For non-native speakers of English in medicine, autonomous learning is often restricted because of a lack of medical lexicon, poor academic vocabulary, and weak lexical verb use. Here, we present the results of an investigation of lexical verbs: their distribution, classification, and contextual use in the different sections of the genre CRs. We suggest that lexical verbs with contextual use should be included in medical dictionaries …

Linguistics and LanguageVocabularyVerb classemedia_common.quotation_subjectGenre movePatient responseLexiconLanguage and LinguisticsLinguisticsVocabulary developmentMedical corporaSettore L-LIN/12 - Lingua E Traduzione - Lingua IngleseContext analysisClinical casesMedical historyDictionary and text-miningLexical verbPsychologyLexical verbCompetence (human resources)media_common
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Pharmacological treatment of burning mouth syndrome : a review and update

2007

Burning mouth syndrome (BMS) is defined as a burning sensation in the tongue or in any other region of the oral mucosa, in the absence of specific oral lesions. The present study reviews the pharmacological treatments used in the last 10 years to reduce the symptoms of BMS, and assesses the efficacy and safety of pharmacological interventions destined to alleviate the symptoms of BMS. To this effect, searches were made in the following databases: Micromedex®, Cochrane Database® and PubMed®, crossing the following key words: drug, treatment, clinical trial, pain management, and burning mouth syndrome. The searches were limited to articles published in the last 10 years in English or Spanish,…

clinical trialstreatmentantidepresivoseducationdigestive oral and skin physiologyBurning mouth syndrome:CIENCIAS MÉDICAS [UNESCO]stomatognathic diseasestratamientoanalgésicosantidepressantsensayos clínicosUNESCO::CIENCIAS MÉDICASanalgesicscasos clínicosclinical casesSíndrome de boca ardiente
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