Praxis

About: Praxis is a nonprofit organization based out in Tallinn, Estonia. It is known for research contribution in the topics: Population & Medicine. The organization has 5311 authors who have published 6645 publications receiving 105752 citations.

Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy.

Abstract: Summary Purpose Neurexins are neuronal adhesion molecules located in the presynaptic terminal, where they interact with postsynaptic neuroligins to form a transsynaptic complex required for efficient neurotransmission in the brain. Recently, deletions and point mutations of the neurexin 1 (NRXN1) gene have been associated with a broad spectrum of neuropsychiatric disorders. This study aimed to investigate if NRXN1 deletions also increase the risk of idiopathic generalized epilepsies (IGEs). Methods We screened for deletions involving the NRXN1 gene in 1,569 patients with IGE and 6,201 controls using high-density oligonucleotide microarrays. Key Findings We identified exon-disrupting deletions of NRXN1 in 5 of 1,569 patients with IGE and 2 of 6,201 control individuals (p = 0.0049; odds ratio (OR) 9.91, 95% confidence interval (CI) 1.92–51.12). A complex familial segregation pattern in the IGE families was observed, suggesting that heterozygous NRXN1 deletions are susceptibility variants. Intriguingly, we identified a second large copy number variant in three of five index patients, supporting an involvement of heterogeneous susceptibility alleles in the etiology of IGE. Significance We conclude that exon-disrupting deletions of NRXN1 represent a genetic risk factor in the genetically complex predisposition of common IGE syndromes.

Extrakorporale Stoßwellentherapie beim symptomatischen Fersensporn – eine Übersicht

Abstract: Extrakorporale Stoswellen werden seit Jahren in Europa zur Behandlung von Insertionstendinopathien wie der plantaren Fasziitis mit klinischem Erfolg eingesetzt. Bislang existierte jedoch kein Wirksamkeitsnachweis anhand placebokontrollierter Studien.

Ätiologie und Pathophysiologie des Fibromyalgiesyndroms

Abstract: Hintergrund Die planmasige Aktualisierung der S3-Leitlinie zum Fibromyalgiesyndrom (FMS; AWMF-Registernummer 041/004) wurde ab Marz 2011 vorgenommen.

Effect on lung function and morning activities of budesonide/formoterol versus salmeterol/fluticasone in patients with COPD.

Abstract: Background: Patients with chronic obstructive pulmonary disease (COPD) often experience symptoms and problems with activities early in the morning. This is the first study to compare the effect of ...