Search results for "RAM"

showing 10 items of 35643 documents

Fabry Disease, a Complex Pathology Not Easy to Diagnose

2015

Fabry disease is a multisystemic lysosomal storage disorder, inherited in an X-linked manner. It is a defect of metabolism of the glycosphingolipids, due to the reduction or absence of the activity of lysosomal enzyme α-galactosidase A. This reduction of activity causes the storage of globotriaosylceramide and derivatives in the lysosomes, triggering a cascade of cellular events, mainly in vascular endothelium. These events are the responsible for the systemic clinical manifestations and the renal, cardiac and cerebrovascular complications, or a combination of them. The symptomatology can lead to the premature death of patient between the fourth or fifth decade of life. The first symptoms c…

lcsh:Diseases of the circulatory (Cardiovascular) systemPathologymedicine.medical_specialtyα-galactosidase Abusiness.industryGlobotriaosylceramideDiagnostic testDiseaseEnzyme replacement therapyAnderson-Fabry diseasemedicine.diseaseFabry diseaseVascular endotheliumchemistry.chemical_compoundPremature deathchemistrylcsh:RC666-701Clinical diagnosismedicineGeneral Earth and Planetary SciencesbusinessGLA gene.General Environmental ScienceCardiogenetics
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A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report

2012

Abstract Background Fabry disease (FD) is a hereditary metabolic disorder caused by the partial or total inactivation of a lysosomal hydrolase, the enzyme α-galactosidase A (GLA). This inactivation is responsible for the storage of undegraded glycosphingolipids in the lysosomes with subsequent cellular and microvascular dysfunction. The incidence of disease is estimated at 1:40,000 in the general population, although neonatal screening initiatives have found an unexpectedly high prevalence of genetic alterations, up to 1:3,100, in newborns in Italy, and have identified a surprisingly high frequency of newborn males with genetic alterations (about 1:1,500) in Taiwan. Case presentation We des…

lcsh:Diseases of the circulatory (Cardiovascular) systemPathologyα-galactosidase AAnderson-Fabry mutationBiopsyDNA Mutational AnalysisCase Reportmedicine.disease_causeGlobotriaosylceramide0302 clinical medicineSettore BIO/13 - Biologia ApplicataPromoter Regions Genetic0303 health sciencesMutationeducation.field_of_studymedicine.diagnostic_testbiologyMetabolic disorderMagnetic Resonance Imaging3. Good healthPhenotypeCardiovascular DiseasesDisease ProgressionFemaleKidney DiseasesRenal biopsyCardiology and Cardiovascular MedicineAdultmedicine.medical_specialtyPopulation03 medical and health sciencesPredictive Value of TestsBiopsymedicineHumansHigh resolution meltingGenetic Predisposition to Diseaseeducation030304 developmental biologyFabry diseaseAlpha-galactosidasebusiness.industrymedicine.diseaseFabry diseaseIntronslcsh:RC666-701alpha-GalactosidaseMutationGLAbiology.proteinbusiness030217 neurology & neurosurgeryKidney disease
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Pain neuroscience education and physical exercise for patients with chronic spinal pain in primary healthcare: a randomised trial protocol.

2019

AbstractBackgroundChronic musculoskeletal pain affects more than 20% of the population, and the prevalence is increasing, causing suffering, loss of quality of life, disability, and an enormous expenditure on healthcare resources. The most common location for chronic pain is the spine. Many of the treatments used are mainly passive (pharmacological and invasive) and poor outcomes. The treatments currently applied in the public health system do not comply with the recommendations of the main clinical practice guidelines, which suggest the use of educational measures and physical exercise as the first-line treatment. A protocol based on active coping strategies is described, which will be eva…

lcsh:Diseases of the musculoskeletal systemSports medicinePsychological interventionChronic pain:Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings]Study Protocol:Diseases::Nervous System Diseases::Neurologic Manifestations::Pain::Chronic Pain [Medical Subject Headings]0302 clinical medicineExercise/physiologyHealth careAdaptation PsychologicalMedicineTreatment protocolOrthopedics and Sports Medicine030212 general & internal medicine:Persons::Persons::Age Groups::Adult::Aged [Medical Subject Headings]education.field_of_studyPatient Education as Topic/methodsChronic pain:Anthropology Education Sociology and Social Phenomena::Education::Education Nonprofessional::Health Education::Patient Education as Topic [Medical Subject Headings]Middle Aged:Psychiatry and Psychology::Behavior and Behavior Mechanisms::Adaptation Psychological [Medical Subject Headings]Primary careEjercicio físico:Health Care::Health Services Administration::Patient Care Management::Comprehensive Health Care::Primary Health Care [Medical Subject Headings]Exercise TherapySpinal DiseasesChronic Pain/diagnosisSpinal Diseases/diagnosis:Analytical Diagnostic and Therapeutic Techniques and Equipment::Therapeutics::Physical Therapy Modalities::Exercise Therapy [Medical Subject Headings]:Persons::Persons::Age Groups::Adult::Young Adult [Medical Subject Headings]Adultmedicine.medical_specialtyPopulationChronic spinal painAdaptation Psychological/physiology03 medical and health sciencesYoung AdultQuality of life (healthcare)Primary Health Care/methodsRheumatologyPatient Education as TopicAtención primaria de salud:Anthropology Education Sociology and Social Phenomena::Human Activities::Exercise [Medical Subject Headings]Humans:Persons::Persons::Age Groups::Adult [Medical Subject Headings]educationExercisePain neuroscience educationAgedPrimary Health Carebusiness.industryPhysical exercise:Persons::Persons::Age Groups::Adult::Middle Aged [Medical Subject Headings]:Diseases::Musculoskeletal Diseases::Bone Diseases::Spinal Diseases [Medical Subject Headings]Dolor crónicomedicine.diseaseExercise Therapy/methodsClinical trialPotocolos clínicoslcsh:RC925-935businessNeuroscienceEducational program030217 neurology & neurosurgery
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Atlas of the Baltic languages: from idea to pilot project

2015

Atl as of the B a ltic l a ngu a ge s : from idea to pilot project Dialectologists from Latvian Language Institute of the University of Latvia and the Department of Language History and Dialectology of the Institute of the Lithuanian Language, have developed a proposal for a joint project entitled, The Atlas of the Baltic Languages, which is intended to demonstrate the close kinship of these two Baltic languages. A pilot project, supported by a grant from the University of Latvia and Directorate for the Millenium of Lithuania has been carried out between 2006 and 2008 to determine what the form and eventual content of such an atlas might be. In 2009 a summary of work carried out on the pilo…

lcsh:Ethnology. Social and cultural anthropologyTarmės. Dialektai. Dialektologija / Dialects. DialectologyLinguistics and LanguageAreal linguisticsBaltic languagesmedia_common.quotation_subjectLanguage and LinguisticsdialectologyLatvių kalba / Latvian languageGeolingvistikaLietuva (Lithuania)Geolinguistic atlasLinguistic cartographyGeolinguisticsmedia_commongeolinguistic atlasGrammarGeolingvistinis atlasaslcsh:PG1-9665DialektDialectologyLatvianLithuanianLingvistinė kartografijalanguage.human_languagelcsh:GN301-674Geographygeolinguisticslcsh:Slavic languages. Baltic languages. Albanian languageslanguageBaltų kalbos / Baltic languagesAnglų kalba / English languageHumanitiesBaltic languagesActa Baltico-Slavica
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Identità e omofobia in Cosa Nostra: un contributo gruppoanalitico soggettuale

2012

Il contributo propone alcune riflessioni sull’identità, la sessualità e l’omofobia nei contesti mafiosi. Gli studi sulla psicologia del fenomeno mafioso hanno sin ora consentito di evidenziare la fragilità identitaria degli appartenenti alle organizzazioni criminali mafiose e l’impossibilità a concepire la diversità in qualunque forma essa si presenti. L’omosessualità in particolare rappresenta in questi contesti la paura terrificante dell’alterità e il terrore di perdere il controllo della rigidità impenetrabile che fonda l’identità mafiosa. L’articolo attraverso l’utilizzo di frammenti di interviste a collaboranti di giustizia mette in luce come in realtà ciò che l’uomo di mafia radicalme…

lcsh:Ethnology. Social and cultural anthropologylcsh:GN301-674lcsh:P101-410Settore M-PSI/08 - Psicologia ClinicaMafia identità sessualità omofobiahomophobiamafiaidentitylcsh:Language. Linguistic theory. Comparative grammarsexuality
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La gruppoanalisi soggettuale e la terapia di gruppo: introduzione alla teoria e alla prassi

2012

rticle explains the theoretical foundations of the group-analysis approach, its main Italian developments, and its link with technique. In particular, after showing the hesitations of the original English model, it illustrates the Italian approach (Subjectual Groupanalysis), its evolution and dialogue with disciplines (complexity theory, cultural anthropology) that contributed to the foundation of its meta-psychological apparatus. Subsequently, it focuses on the relational foundation of psyche, on the therapeutic aspects linked to it, highlighting some key aspects of a classic group-analytic functioning, some of the main therapist’s responsibility, and some of the hardest troubles for the p…

lcsh:Ethnology. Social and cultural anthropologylcsh:GN301-674lcsh:P101-410Settore M-PSI/08 - Psicologia Clinicasubjectualgrouptechniquetheorylcsh:Language. Linguistic theory. Comparative grammargroup subjectual technique theory.
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Sequestrati dalla vendetta: “rimanere chiusi fuori dall’oggetto”

2013

RiassuntoA partire dal loro lavoro di psicoterapeute e attraverso alcuni frammenti clinici che si riferiscono ad un gruppo di adolescenti svoltosi in un quartiere a rischio di Palermo, le Autrici analizzano la dimensione mafiosa non restringendola al solo comportamento criminale; piuttosto declinandola lungo alcuni significanti: non identità e gruppo mafioso che colonizza e sottomette lo psichismo del singolo; fantasmi familiari potenti e spietati che impediscono il costituirsi di sé originali e autonomi; personalità impastate di indifferenza emotiva e vendicatività. Significanti che rendono conto delle vaste aree di desertificazione e pietrificazione – resistenza al cambiamento – avvertita…

lcsh:Ethnology. Social and cultural anthropologylcsh:GN301-674lcsh:P101-410identitàresistenzacambiamentogruppomafiaStarting from their work as psychotherapists and by means of some clinical fragments which refer to a group of teenagers of a neighbourhood at risk in Palermo the Authoresses analyze the Mafia dimension not limiting it to a criminal behaviour only. They rather decline it along some signifiers: non identity and mafia group which colonizes and subjugates the individual’s psychism. Powerful and merciless family ghosts who prevent from building original and autonomous selves. Personalities kneaded with emotional indifference and vindictiveness. Signifiers which account for the large desertification and petrification areas – resistance to change – that psychotherapists who deal with young people belonging to Mafia families are able to feel.vendettalcsh:Language. Linguistic theory. Comparative grammarpsicoterapia
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Al di là del sintomo. Il gruppo psicodinamico nelle dipendenze

2012

I Disturbi da Uso di Sostanze (DUS) e i Disturbi del Comportamento Alimentare (DCA) presentano delle caratteristiche comuni. Essi infatti si manifestano attraverso un attacco al corpo, presentano un’insorgenza in età adolescenziale o tardo adolescenziale e una prevalenza associata rispettivamente al genere maschile e femminile. In una prospettiva psicodinamica, ciò che soprattutto accomuna i DUS e i DCA (insieme ai disturbi psicosomatici) è il fatto di poter essere considerati dei disturbi di secondo livello, dei quadri sintomatologici di copertura rispetto ad una sofferenza psichica sottostante. In questo senso possono essere considerate delle modalità di auto-terapia e autoregolazione emo…

lcsh:Ethnology. Social and cultural anthropologylcsh:GN301-674lcsh:P101-410nalytic therapySettore M-PSI/08 - Psicologia Clinicaaddictioneating disorderslcsh:Language. Linguistic theory. Comparative grammarterapia gruppoanalitica tossicodipendenza disturbi alimentari
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Disidentità: una chiave di lettura per le nuove forme di psicopatologia?

2012

Le trasformazioni cui è andata incontro la società nel passaggio dalla modernità alla post-modernità hanno scosso la dimensione gruppale e, perciò stesso, l’identità personale. Lo sfilacciarsi del senso d’appartenenza legato al considerare proprie alcune tradizioni culturali, linguistiche, religiose, ecc. rende difficile non solo la comprensione del mondo, ma anche la possibilità d’interiorizzare tutti quegli aspetti legati all’esperienza stessa di “appartenere” che, slegandosi, si perdono in frammenti di un mondo essenzialmente incerto e provvisorio. L’articolo propone una riflessione sul perché alcuni recenti mutamenti socio-antropologici possono rappresentare una minaccia rispetto allo s…

lcsh:Ethnology. Social and cultural anthropologylcsh:GN301-674postmodernitylcsh:P101-410dis-identity psychopathology postmodernitydis-identitySettore M-PSI/08 - Psicologia ClinicaSettore M-PSI/07 - Psicologia Dinamicadis-identità psicopatologia postmodernitàpsychopathologylcsh:Language. Linguistic theory. Comparative grammar
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Il riconoscimento, il lavoro, la cura

2015

Il contributo che propongo vuole essere una riflessione sul tema del riconoscimento, nel contesto lavorativo e nel sociale, che mette l’accento sulle problematiche e sulle difficoltà che le persone incontrano in questo momento storico. Un periodo nel quale non sembrano più avere valore i rapporti di reciprocità e di riconoscimento del proprio percorso formativo e lavorativo, perché altro è divenuto il fulcro d'interesse del mondo del lavoro, ormai da anni indirizzato a coinvolgere le persone nella produttività senza più interessarsi a sufficienza del progetto di vita dei soggetti coinvolti. Si evidenziano i rischi e le sofferenze di soggetti che percepiscono, sempre con maggiore precisione,…

lcsh:Ethnology. Social and cultural anthropologylcsh:GN301-674riconoscimentolcsh:P101-410lavoroSettore M-PSI/08 - Psicologia Clinicaintersoggettivitàidentitàriconoscimento; lavoro; identità; intersoggettivitàlcsh:Language. Linguistic theory. Comparative grammar
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