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

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,

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

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

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

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

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

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.

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

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

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

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.

A knowledge of word-formation patterns can have considerable benefits on competence in a second language. A dynamic view of the lexicon can reveal recurring patterns in the vocabulary of a language, representing a useful tool to improve receptive fluency. Unfortunately, reflections on wordformation are not often considered an essential part of second language teaching, and grammar books often tend

Background: Pay-for-performance (P4P) has been widely used in healthcare, but there are few experiences of hospital-based P4P at scale. The evidence of impact from these has been mixed, and there has been increased recognition of the importance of different contexts, designs, incentives and other factors. In 2014, the Lebanese Ministry of Public Health integrated a P4P model for determining hospit

Idiopathic pulmonary fibrosis (IPF) is characterized by an aberrant repair response with uncontrolled turnover of extracellular matrix involving mesenchymal cell phenotypes, where lung resident mesenchymal stem cells (LRMSC) have been supposed to have an important role. However, the contribution of LRMSC in lung fibrosis is not fully understood, and the role of LRMSC in IPF remains to be elucidate

We consider entropy conservative and dissipative discretizations of nonlinear conservation laws with implicit time discretizations and investigate the influence of iterative methods used to solve the arising nonlinear equations. We show that Newton's method can turn an entropy dissipative scheme into an anti-dissipative one, even when the iteration error is smaller than the time integration error.

Conservation and consistency are fundamental properties of discretizations of systems of hyperbolic conservation laws. Here, these concepts are extended to the realm of iterative methods by formally defining locally conservative and flux consistent iterations. These concepts are of both theoretical and practical importance: Based on recent work by the authors, it is shown that pseudo-time iteratio