Search results for "arki"

showing 10 items of 1015 documents

DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB

2020

Abstract DCTN1 encodes the largest subunit of dynactin complex essential in the retrograde axonal transport and cytoplasmic transport of vesicles; mutations in DCTN1 have been reported predominantly in individuals with Perry syndrome and, recently, in patients with progressive supranuclear palsy. Our genetic screening of DCTN1 in 79 patients with progressive supranuclear palsy, 100 patients with multiple system atrophy, and 28 patients with dementia with Lewy bodies from Italy revealed only synonymous and intronic variants, suggesting that DCTN1 mutations do not have a key role in the development of atypical parkinsonism in the Italian population.

Lewy Body DiseaseMale0301 basic medicineAgingPathologymedicine.medical_specialtyDementia with Lewy bodieDNA Mutational AnalysisDynactinProgressive supranuclear palsy03 medical and health sciences0302 clinical medicineAtrophymedicineHumansIn patientGenetic TestingGenetic Association StudiesAgedDCTN1Dementia with Lewy bodiesbusiness.industryProgressive supranuclear palsyGeneral NeuroscienceParkinson DiseaseDynactin ComplexMiddle AgedMultiple System Atrophymedicine.diseaseDCTN1030104 developmental biologyItalyMutation testingDynactinAxoplasmic transportDCTN1; Dementia with Lewy bodies; Dynactin; Multiple system atrophy; Progressive supranuclear palsyFemaleSupranuclear Palsy ProgressiveNeurology (clinical)Geriatrics and GerontologybusinessNegative Results030217 neurology & neurosurgeryDevelopmental BiologyNeurobiology of Aging
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Nasal chemosensory tests: biomarker between dementia with Lewy bodies and Parkinson disease dementia.

2020

BACKGROUND: Dementia with Lewy bodies (DLB) and Parkinson disease dementia (PDD) are progressive and disabling neurodegenerative disorders, which are often misdiagnosed due to theirs overlapping clinical and paraclinical features. Nevertheless, their adequate management requires an accurate differential diagnosis. The main aim of this study was to investigate the usefulness of olfactory and trigeminal nasal testing for the differential diagnosis between DLB and PDD. METHODS: Odor thresholds to three odorants differentially activating the olfactory and trigeminal systems were assessed in patients with DLB, PDD and healthy controls (n = 20 per group). RESULTS: Odor thresholds were significant…

Lewy Body Diseasemedicine.medical_specialtyDiseasebehavioral disciplines and activitiesGastroenterologyDiagnosis Differential03 medical and health sciences0302 clinical medicineInternal medicinemental disordersmedicineDementiaHumansIn patient030223 otorhinolaryngologyCanonical discriminant analysisDetection thresholdDementia with Lewy bodiesbusiness.industryParkinson DiseaseGeneral Medicinemedicine.diseasenervous system diseasesSmellOtorhinolaryngologyBiomarker (medicine)Differential diagnosisbusinessBiomarkersRhinology
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Analysis of the LRP10 gene in patients with Parkinson's disease and dementia with Lewy bodies from Southern Italy

2020

Recently, the LRP10 gene has been associated with Parkinson's disease (PD), Parkinson's disease with dementia (PDD), and dementia with Lewy bodies (DLB). The aim of the present study was to evaluate the presence of mutations of the LRP10 gene in patients with PD or DLB from Southern Italy. Sequencing analysis revealed only 2 missense and 3 synonymous variants in patients and control subjects and a rare variant p.L622F in a PD case. These results suggest that LRP10 mutations are not a frequent cause of PD and DLB in Southern Italy.

Lewy Body Diseasemedicine.medical_specialtyNeurologyParkinson's diseaseLRP10 . Parkinson’s disease . Dementia with Lewy bodiesDermatologyDiseasebehavioral disciplines and activities03 medical and health sciences0302 clinical medicineAlzheimer DiseaseInternal medicineDementia with Lewy bodies; LRP10; Parkinson's disease.mental disordersmedicineDementiaMissense mutationHumans030212 general & internal medicineNeuroradiologyDementia with Lewy bodiesbusiness.industryParkinson DiseaseGeneral Medicinemedicine.diseasenervous system diseasesPsychiatry and Mental healthItalyMutationSettore MED/26 - NeurologiaNeurology (clinical)Neurosurgerybusiness030217 neurology & neurosurgery
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Presence phenomena in parkinsonian disorders: Phenomenology and neuropsychological correlates.

2020

Introduction The feeling of a presence that occurs in the absence of objectively identifiable stimuli is common in parkinsonian disorders. Although previously considered benign and insignificant, recent evidence suggests that presence phenomena may act as the gateway to more severe hallucinations and dementia. Despite this, we still know relatively little about these phenomena. Objective To examine parkinsonian disorder patients' subjective experience of presence phenomena, and retrospectively analyse their cognitive correlates, in order to elucidate the emergence of information processing deficits in parkinsonian disorders. Methods/design 25 patients who endorsed presence phenomena were as…

Lewy Body Diseasemedicine.medical_specialtyParkinson's diseaseHallucinationsmedia_common.quotation_subjectAudiologyNeuropsychological TestsVisual processingParkinsonian DisordersmedicineDementiaHumansmedia_commonRetrospective StudiesDementia with Lewy bodiesNeuropsychologyCognitionParkinson Diseasemedicine.diseasePsychiatry and Mental healthFeelingAnxietyGeriatrics and Gerontologymedicine.symptomPsychologyCognition DisordersInternational journal of geriatric psychiatryREFERENCES
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Recognition by familiarity is preserved in Parkinson's without dementia and Lewy-Body disease.

2010

Objective The retrieval deficit hypothesis states that the lack of deficit in recognition often observed in patients with Parkinson's disease is because of the low retrieval requirements of the task, given that these patients have retrieval and not encoding deficits. To test this hypothesis we investigated recognition memory by familiarity in Parkinson's patients and in patients with Lewy Bodies disease and Parkinson with dementia. Method We analyzed to what extent the experimental groups were able to recognize by familiarity in a typical yes/no recognition memory task. The experimental groups were patients with early nondemented Parkinson's disease, advanced nondemented Parkinson's disease…

Lewy Body Diseasemedicine.medical_specialtyParkinson's diseaseMatched-Pair AnalysisAudiologyCentral nervous system diseaseDegenerative diseaseReference ValuesmedicineDementiaHumansPsychiatryRecognition memoryAgedAnalysis of VarianceDementia with Lewy bodiesMemoriaCognitionParkinson DiseaseRecognition Psychologymedicine.diseaseNeuropsychology and Physiological PsychologyCase-Control StudiesMental RecallTrastorns de la memòria en la vellesaDementiaPsychologyNeuropsychology
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Measuring network disruption in neurodegenerative diseases: New approaches using signal analysis

2019

Advanced neuroimaging has increased understanding of the pathogenesis and spread of disease, and offered new therapeutic targets. MRI and positron emission tomography have shown that neurodegenerative diseases including Alzheimer’s disease (AD), Lewy body dementia (LBD), Parkinson’s disease (PD), frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS) and multiple sclerosis (MS) are associated with changes in brain networks. However, the underlying neurophysiological pathways driving pathological processes are poorly defined. The gap between what imaging can discern and underlying pathophysiology can now be addressed by advanced techniques that explore the cortical neural synchro…

Lewy Body Diseasemedicine.medical_treatmentElectroencephalographysurgery03 medical and health sciences0302 clinical medicineNeuroimagingAlzheimer DiseasemedicineDementiaHumans1506Amyotrophic lateral sclerosisNeurodegeneration030304 developmental biologyneurology (clinical)0303 health sciencesLewy bodymedicine.diagnostic_testbusiness.industryAmyotrophic Lateral Sclerosissurgery; neurology (clinical); psychiatry and mental healthMagnetoencephalographyElectroencephalographyNeurodegenerative DiseasesParkinson DiseaseMagnetoencephalographymedicine.diseaseTranscranial Magnetic Stimulation3. Good healthTranscranial magnetic stimulationpsychiatry and mental healthFrontotemporal DementiaNerve NetbusinessNeuroscience030217 neurology & neurosurgeryFrontotemporal dementiaJournal of Neurology, Neurosurgery, and Psychiatry
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A critical review of life cycle assessment benchmarking methodologies for construction materials

2022

As it stands, the construction sector accounts for a significant proportion of global emissions. The majority of these emissions can be associated with material production. As a result, the importance of quantifying these environmental impacts is continually increasing. However, there is a current lack of guidance and methodologies regarding how to benchmark the impacts of construction products, and thus achieve more transparent environmental reporting and decision-making. Therefore, the aim of this study was to review engineering life-cycle assessment (LCA) literature and applicable standards to identify the key methodological variables required and the key steps for a sector-wide methodol…

Life cycle assessmentBenchmarkingSustainabilityRenewable Energy Sustainability and the EnvironmentSettore ICAR/04 - Strade Ferrovie Ed AeroportiGeneral Materials ScienceMaterialsWaste Management and DisposalIndustrial and Manufacturing EngineeringConstructionSustainable Materials and Technologies
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Language ideological landscapes for students in university language policies: inclusion, exclusion, or hierarchy

2022

Many universities in non-English speaking countries have been adopting English as a medium of instruction to internationalize their education. We set out to compare the language policies of a Finnish and a Japanese university using the lens of language ideology – a set of normative beliefs about the social dimension of language. Data were collected from selected documents of the two universities, and analyzed utilizing critical discursive psychology. This social constructionist approach allows mapping out language ideological landscapes – interrelationships among different co-occurring language ideologies – from which students may draw ideas about how they orient themselves towards their pe…

Linguistics and LanguageopiskelijatsosiolingvistiikkaLanguage and LinguisticsEducationlanguage ideologiesEnglish as a medium of instructionsocial categories for studentskielipolitiikkauniversity language policiesmonikielisyyskansalliskielethierarkiakansainvälistyminenyliopistotenglannin kielicritical discursive psychologyCurrent Issues in Language Planning
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Acute and reversible Pisa syndrome as unusual presentation of portosystemic encephalopathy

2020

Abstract We present the first case of acute and reversible Pisa Syndrome, as a clinical manifestation of a portosystemic encephalopathy bout occurring in a patient affected with cirrhosis and clinical-radiological signs of acquired hepatocerebral degeneration, without exposure to psychotropic medications. A 62 year-old man suffering from cirrhosis was admitted to our hospital for sudden onset of mild confusion and postural change. He was observed walking and standing with a tilt toward the right during the last two hours. On neurological examination, he showed bilateral asterixis and extrapyramidal signs. Clinical diagnosis of Pisa Syndrome was made in a setting of raised serum ammonia. A b…

Liver CirrhosisMalemedicine.medical_specialtyCerebellumCirrhosisNeurological examination03 medical and health sciences0302 clinical medicineNeuroimagingAcquired hepatocerebral degenerationInternal medicineBasal gangliaHumansMedicinePortosystemic encephalopathyAsterixisPisa syndrome Axial dystonia Portosystemic encephalopathy Acquired hepatocerebral degeneration Orthotopic liver transplantmedicine.diagnostic_testbusiness.industryParkinsonismOrthotopic liver transplantGeneral MedicineMiddle Agedmedicine.diseaseAxial dystoniaDystoniaPisa syndromeGlobus pallidusmedicine.anatomical_structureHepatic Encephalopathy030220 oncology & carcinogenesisCardiologySurgeryNeurology (clinical)medicine.symptombusiness030217 neurology & neurosurgery
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Vieraalla maalla : kuolansuomalaisten elinkaari Päiväjärven / Tuuloman kylän kautta tarkasteltuna

2017

Tutkimukseni kohteena on kuolansuomalaisen uudisasutuksen kehittyminen ja suomalaisyhteisöjen elinkaari Kuolan niemimaalla 1800-luvun puolivälistä 1940-luvun alkuun. Keskiössä on Päiväjärven eli Tuuloman kylä Murmanskin eteläpuolella Tuulomajoen varressa. Tutkimusaineisto koostuu tekemästäni entisen Päiväjärven asukkaan, Helena Lokan haastattelusta sekä Murmanskin aluearkiston arkistomateriaalilähteistä, joihin kuuluvat mm. Päiväjärven ja viereisen Jyrkinän kylän kyläneuvostojen pöytäkirjat 1930-luvulta. Lisäksi työssä on käytetty kirjallisia lähteitä, joista mm. kuolansuomalaisen taiteilijan ja kirjailijan Sven Lokan omaelämäkerralliset teokset kuuluvat muistelukerronnan piiriin. Tutkimuks…

Lokka SvenkuolansuomalaisetTuulomajokiarkisuomalaisetTuulomayhteisötelinkeinotPäiväjärvi1800-luku1900-lukuKuolan niemimaa
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