Sökresultat

Filtyp

Din sökning på "*" gav 531335 sökträffar

Pedagogisk retorik : En inbjudan till den muntliga relationens vetenskap

Alla relationsberoende yrkesroller – läkare, lärare med flera – vilar på en gemensam idé: att kunna övertyga andra till att tänka och handla i linje med den aktuella professionens särskilda ansvar och mål. Professionellt handlar färdigheten om att förstå vad uttryck och ord gör med och mot oss när vi människor väljer att lyssna och bli delaktiga i någons yrkeskunnande – eller inte. Pedagogisk reto

Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers

Background: Epidemiological studies that examined the association between Parkinson's disease (PD) and cancers led to inconsistent results, but they face a number of methodological difficulties. Objective: We used results from genome-wide association studies (GWASs) to study the genetic correlation between PD and different cancers to identify common genetic risk factors. Methods: We used individua

Embracing Monogenic Parkinson's Disease : The MJFF Global Genetic PD Cohort

Background: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is lim

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

OBJECTIVES: We aim to clarify the pathogenic role of intermediate size repeat expansions of SCA2, SCA3, SCA6, and SCA17 as risk factors for idiopathic Parkinson disease (PD).METHODS: We invited researchers from the Genetic Epidemiology of Parkinson's Disease Consortium to participate in the study. There were 12,346 cases and 8,164 controls genotyped, for a total of 4 repeats within the SCA2, SCA3,

Replication of a Novel Parkinson's Locus in a European Ancestry Population

BACKGROUND: A recently published East Asian genome-wide association study of Parkinson;s disease (PD) reported 2 novel risk loci, SV2C and WBSCR17.OBJECTIVES: The objective of this study were to determine whether recently reported novel SV2C and WBSCR17 loci contribute to the risk of developing PD in European and East Asian ancestry populations.METHODS: We report an association analysis of recentl

Whole exome sequencing of familial, combined or complex dystonia

Background: To determine the usefulness of whole exome sequencing(WES) in the diagnostic evaluation of patients and small families withfamilial, combined and/or complex forms of dystonia identified from anadult neurology clinic at a tertiary center, and to set up a computationalpathway for the bioinformatics analyses.Methods: By mail, we contacted all 347 patients from our department whoduring a 4

A Swedish SCA34 family with late onset ataxia, cerebellar atrophy and ocular movement abnormalities with a novel mutation in ELOVL4

Background: To investigate the clinical and radiological presentation of anew ELOVL4mutation in a Swedish family.Methods:We compiled information on a Swedish family with 6 affectedmembers. Four of these had undergone neurological and radiological examinations. Two patients were independently analysed genetically bywhole exome or whole genome sequencing.Results: All examined affected family members

Patient perspective in hereditary ataxia

Background: Hereditary ataxia is a group of rare disorders. Healthcareproviders and public authorities may have limited knowledge about thisdiagnosis. We asked the patients if they feel well-informed about thediagnosis and whom they usually turn to for support.Methods: Adult patients with a diagnosis of progressive cerebellar ataxiawere identified in the diagnosis register of Scania region or were

Genomic analyses of a large Swedish multi-incident kindred with autosomal dominant Parkinson’s disease with dementia

Background:The known genetic causes for Parkinson’s disease (PD) onlyexplain a small proportion of the familial aggregation of PD. Despiteintensive efforts by researchers internationally, identifying and confirmingadditional monogenic causes for PD has been difficult.Methods:We examined 16 members of a large family with multi-incidentPD and dementia. Eight members were examined by whole exome (WES

Translation and Validation of the Swedish Version of the Tilburg Frailty Indicator

The Tilburg Frailty Indicator (TFI) is a questionnaire with 15 questions designed for screening for frailty in community-dwelling older people. TFI has a multidimensional approach to frailty, including physical, psychological, and social dimensions. The aim of this study was to translate TFI into Swedish and study its psychometric properties in community-dwelling older people with multimorbidity.

Recombinant α 1-Microglobulin (rA1M) Protects against Hematopoietic and Renal Toxicity, Alone and in Combination with Amino Acids, in a 177Lu-DOTATATE Mouse Radiation Model.

177Lu-DOTATATE peptide receptor radionuclide therapy (PRRT) is used clinically to treat metastasized or unresectable neuroendocrine tumors (NETs). Although 177Lu-DOTATATE is mostly well tolerated in patients, bone marrow suppression and long-term renal toxicity are still side effects that should be considered. Amino acids are often used to minimize renal radiotoxicity, however, they are associate

Ciclopirox Ethanolamine Preserves the Immature State of Human HSCs by Mediating Intracellular Iron Content

Culture conditions in which hematopoietic stem cells (HSCs) can be expanded for clinical benefit are highly sought after. To elucidate regulatory mechanisms governing the maintenance and propagation of human HSCs ex vivo, we screened libraries of annotated small molecules in human cord blood (CB) cells using an optimized assay for detection of functional HSCs during culture. We found that the anti

Exploring patient perspectives : A qualitative inquiry into healthcare perceptions, experiences and satisfaction in Lebanon

BACKGROUND: Patient perspectives have received increasing importance within health systems over the past four decades. Measures of patient experience and satisfaction are commonly used. However, these measures do not capture all the information that is available through engaging with patients. An improved understanding of the various types of patient perspectives and the distinctions between them

Varför är den svenska kronan så svag mot euron?

Kronan har försvagats mot euron under tio års tid. Detta har på sistone utlöst enintensiv debatt. Deprecieringen har tagits som intäkt för att Sverige bör ersättakronan med euron. Vi studerar här faktorerna bakom kronförsvagningen. Vårslutsats är att den i huvudsak beror på att inflationen i Sverige varit högre äni euroområdet. Denna process är kopplad till en mer expansiv penningpolitik iSverige.