Search results for "17"
showing 10 items of 14048 documents
Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.
2012
Objective: Description of 8 new ANO5 mutations and significant expansion of the clinical phenotype spectrum associated with previously known and unknown mutations to improve diagnostic accuracy. Methods: DNA samples of 101 patients in 95 kindreds at our quaternary referral center in Finland, who had undetermined limb-girdle muscular dystrophy (LGMD), calf distal myopathy, or creatine kinase (CK) elevations of more than 2,000 IU/L, were selected for ANO5 genetic evaluation, and the clinical findings of patients with mutations were retrospectively analyzed. Results: A total of 25 patients with muscular dystrophy caused by 11 different recessive mutations in the ANO5 gene were identified. The …
The pain threshold of high-threshold mechanosensitive receptors subsequent to maximal eccentric exercise is a potential marker in the prediction of D…
2017
Background Delayed-onset muscle soreness (DOMS) refers to dull pain and discomfort in people after participating in exercise, sport or recreational physical activities. The aim of this study was to detect underlying mechanical thresholds in an experimental model of DOMS. Methods Randomised study to detect mechanical pain thresholds in a randomised order following experimentally induced DOMS of the non-dominant arm in healthy participants. Main outcome was the detection of the pressure pain threshold (PPT), secondary thresholds included mechanical detection (MDT) and pain thresholds (MPT), pain intensity, pain perceptions and the maximum isometric voluntary force (MIVF). Results Twenty volun…
Myoadenylate deaminase deficiency
1987
Myoadenylate deaminase (MAD) is the rate-limiting enzyme in the purine nucleotide cycle which is biochemically linked to glycolysis and the citric cycle and thereby providing energy during intense muscular activity. In muscle fibers, myoadenylate deaminase operates at considerably higher activity levels than in other organs. First detected using enzyme-histochemical methods, it now appears that deficiency of myoadenylate deaminase is one of the most frequent enzyme defects in muscle. The primary defect may occur as an isolated nosological entity or not infrequently it is also associated with a large spectrum of different neuromuscular conditions. It seems to be the primary unassociated MAD …
Open-label ODYSSEY APPRISE study: Interim data from the first 843 participants
2018
Background PCSK9 inhibitors (PCSK9i) have been recommended by the ESC/EAS Task Force in very high risk subjects with ASCVD and those with heterozygous familial hypercholesterolemia (HeFH) with persistent high LDL-C levels despite maximally tolerated LLT. Purpose ODYSSEY APPRISE (NCT02476006) is the first study to assess efficacy and safety at Week (W) 12 of the PCSK9i alirocumab (ALI) in a real-life setting prior to commercial availability. Methods APPRISE was an open-label, single-arm study, conducted in 16 European countries and Canada. Subjects with inadequately controlled lipid levels despite maximally tolerated LLT were included. Based on physician's judgment, participants received eit…
Paradigma pragmático-funcional en la rehabilitación de la afasia
2020
Durante las últimas dos décadas, la investigación sobre la rehabilitación de la afasia ha desarrollado una visión pragmática y funcional del lenguaje, lo que ha llevado a una orientación cada vez más multifacética del trabajo terapéutico. En este enfoque pragmático-funcional de la rehabilitación de la afasia convergen diferentes programas concebidos de forma independiente, centrando la terapia en la dimensión relacional del lenguaje, que incluye: las interrelaciones funcionales entre los componentes del sistema lingüístico; la función comunicativa y el uso del lenguaje en contextos naturales como las conversaciones cotidianas; las interrelaciones entre el comportamiento verbal y otros medio…
I den folkliga modedräktens fotspår : bondekvinnors välstånd, ställning och modemedvetenhet i Gamlakarleby socken 1740-1800
2018
My research study deals with the wealth, social position, and fashion awareness of farmers’ wives in Gamlakarleby (Kokkola) parish in the latter half of the eighteenth century. In addition, I investigate the picture that present national costumes give about eighteenth century dressing. The aim is to examine farmer wives’ wealth in the villages of Karleby (Gamlakarleby socken) and the village of Nedervetil, which were part of the class society regulated by the Church Law of 1686 and the Swedish Civil Code enacted in 1734. The perspective of my research is microhistorical, which means that I study individual persons and phenomena in the villages of Gamlakarleby parish, and I mention the perso…
Orjuuttakin kurjempi kohtalo : Sarah Chapone ja käsitykset naisten oikeudellisesta asemasta 1700-luvun alun Englannin oikeustieteellisessä ja julkise…
2007
"Rakkauden ja suosiollisuuden tähden" : patriarkaalinen valta ja naisen asema Skotlannissa 1752-1769 perintö- ja avio-oikeuden näkökulmasta
2015
Työ käsittelee naisen asemaa Skotlannissa vuosina 1752–1769 oikeuslähteiden näkökulmasta. Aineistona on käytetty Skotlannin korkeimman siviilioikeuden Court of Sessionin oikeudenkäyntipöytäkirjoja kyseiseltä ajanjaksolta. Aineisto koostuu pääosin sukulaisten välisistä perintöriidoista, avioliiton todistamistapauksista ja elatukseen sekä aviottomien lasten huoltajuuteen liittyvistä tapauksista. Toisena tärkeänä lähteenä on kaksi aikakaudella kirjoitettua lakiteosta, Lordi Banktonin An institute of the laws of Scotland in civil rights ja John Erskinen The principles of the law of Scotland. Työ esittelee pääpiirteissään aikakauden patriarkaalisen perimysjärjestelmän ja avioliittolainsäädännön …