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Next-Generation Gene Therapy for Parkinson's Disease Using Engineered Viral Vectors

Recent technological and conceptual advances have resulted in a plethora of exciting novel engineered adeno associated viral (AAV) vector variants. They all have unique characteristics and abilities. This review summarizes the development and their potential in treating Parkinson's disease (PD). Clinical trials in PD have shown over the last decade that AAV is a safe and suitable vector for gene t

Choice of dialysis modality among patients initiating dialysis : results of the Peridialysis study

Background: In patients with end-stage kidney disease (ESKD), home dialysis offers socio-economic and health benefits compared with in-centre dialysis but is generally underutilized. We hypothesized that the pre-dialysis course and institutional factors affect the choice of dialysis modality after dialysis initiation (DI).Methods: The Peridialysis study is a multinational, multicentre prospective

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In Burkina Faso, the recent emergence of the “koglweogo” vigilante groups is often explained as a result of a “security vacuum.” This explanation, however, tends to depoliticize the power relations that underlie the phenomenon of vigilantism. In this article we analyze the justifications for the emergence and work of koglweogo groups and for the national policy of community-based policing that aim

Ombordmätningar av luftburna partiklar i X60 samt på citybanans plattformar

SyfteMålsättningen med denna studie var dels att säkerställa att tågpersonalen inte utsätts för höga halter av partiklar i sitt arbete på X60B fordon som trafikerar Arlanda. Syftet var även att ta fram ett förhållande mellan partikelnivåerna i tunnelmiljö och ombord på pendeltågsfordon av typ X60B i förarhytterna för att avgöra ventilationsfiltrets kapacitet. Kunskapen om filtreringseffektiviteten

Contributions to Molecular Phylogeny of Lichen-Forming Fungi 2. Review of Current Monophyletic Branches of the Family Physciaceae

Seven genera new to science, i.e.: Helmutiopsis, Huriopsis, Johnsheardia, Klauskalbia, Kudratovia, Kurokawia and Poeltonia of the Physciaceae are proposed for the ‘Rinodina’ atrocinerea, the ‘Rinodina’ xanthophaea, the ‘Rinodina’ cinnamomea, the ‘Heterodermia’ obscurata, the ‘Rinodina’ straussii, the ‘Anaptychia’ isidiata and the ‘Physconia’ grisea groups consequently that all form strongly suppor

CDG-Id in two siblings with partially different phenotypes

We present two sibs with congenital disorder of glycosylation (CDG) type Id. Each shows severe global delay, failure to thrive, seizures, microcephaly, axial hypotonia, and disaccharidase deficiency. One sib has more severe digestive issues, while the other is more neurologically impaired. Each is compound heterozygous for a novel point mutation and an already known mutation in the ALG3 gene that

Trajectories of body mass index and risk for coronary heart disease : A 38-year follow-up study

Objective Obesity is a well-known risk factor for coronary heart disease (CHD), but there is little evidence on the effect of long-term trajectories of body mass index (BMI) over the life course. By using repeated assessments, the aim was to study the risk of CHD in adults during 38 years in different trajectories of BMI. Methods A sample of 2129 men and women, aged 20-59 years at baseline, took p

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

Subcellular membrane systems are highly enriched in dolichol, whose role in organelle homeostasis and endosomal-lysosomal pathway remains largely unclear besides being involved in protein glycosylation. DHDDS encodes for the catalytic subunit (DHDDS) of the enzyme cis-prenyltransferase (cis-PTase), involved in dolichol biosynthesis and dolichol-dependent protein glycosylation in the endoplasmic re

Ablation of mouse phosphomannose isomerase (Mpi) causes mannose 6-phosphate accumulation, toxicity, and embryonic lethality

MPI encodes phosphomannose isomerase, which interconverts fructose 6-phosphate and mannose 6-phosphate (Man-6-P), used for glycoconjugate biosynthesis. MPI mutations in humans impair protein glycosylation causing congenital disorder of glycosylation Ib (CDG-Ib), but oral mannose supplements normalize glycosylation. To establish a mannose-responsive mouse model for CDG-Ib, we ablated Mpi and provid

Cognitive interference processing in adult survivors of childhood acute lymphoblastic leukemia using functional magnetic resonance imaging

Background: Childhood acute lymphoblastic leukemia (ALL) is associated with cognitive impairment in adulthood. Cognitive interference processing and its correlated functional magnetic resonance imaging (fMRI) activity in the brain have not yet been studied in this patient group.Material: Twenty-six adult childhood ALL survivors (median [interquartile range {IQR}] age, 40.0 [37.0-42.3] years) were

Complexity of electrocortical dynamics in children : Developmental aspects

Dimensional complexity (DCx) is an EEG measure derived from nonlinear systems theory that can be indicative of the global dynamical complexity of electrocortical activity. This study examined developmental changes in DCx, as well as the effects of cognitive tasks, gender, and brain topography, and compared DCx with traditional spectral power measures. EEG was recorded in three groups of children a