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Aim: To investigate the interobserver agreement on phenotypic early-onset ataxia (EOA) assessment and to explore whether the Scale for Assessment and Rating of Ataxia (SARA) could provide a supportive marker. Method: Seven movement disorder specialists provided independent phenotypic assessments of potentially ataxic motor behaviour in 40 patients (mean age 15y [range 5-34]; data derived from Univ

Objective To examine cognitive functioning in patients with tyrosinemia type I treated with nitisinone and a protein-restricted diet. Study design We performed a cross-sectional study to establish cognitive functioning in children with tyrosinemia type I compared with their unaffected siblings. Intelligence was measured using age-appropriate Wechsler Scales. To assess cognitive development over ti

Objective: Exclusively breastfed infants with unrecognised cholestatic jaundice are at high risk of a vitamin K deficiency (VKD) bleeding. It is presently unknown whether (the size of) this risk depends on the degree of cholestasis. Since alpha-1-antitrypsin deficiency (A1AD) induces a variable degree of cholestasis, we assessed the risk of VKD bleeding in infants with cholestatic jaundice due to

BACKGROUND AND PURPOSE: Brain imaging is an integral part of the diagnostic work-up for metabolic disorders, and the bedside availability of cranial ultrasonography (cUS) allows very early brain imaging in symptomatic neonates. Our aim was to investigate the role and range of abnormalities seen on cUS in neonates presenting with metabolic disorders. A secondary aim, when possible, was to address t

Vein of Galen malformation is a rare intracranial disorder in newborns. In recent years the survival rate has improved due to improvement in endovascular treatment of this abnormality. We describe three neonates with a vein of Galen malformation for whom treatment was not attempted because of associated severe cerebral damage, of antenatal origin in two and of perinatal origin in the other. Autops

Artikel om den assyriska lobbningen vid fredskonferensen i Paris 1919.

Reflections in memory of Professor Per Stjernquist, one of the leading pioneers in the field of sociology of law.

Head-and-neck tumors are often situated at an air-tissue interface what may result in an underdosage of part of the tumor in radiotherapy treatments using megavoltage photons. especially for small fields. In addition to effects of transient electronic disequilibrium, for these small fields, an increased lateral electron range in air will result in an important extra reduction of the central axis (

While the income per capita in the developing world since the turn of the Millennium has grown faster than that of the developed world, the question whether there is an ongoing process of catching up between countries remains. The notion of income convergence has provided many insights into the sources for long-run growth but has largely neglected the role of social capabilities in economic develo

Uppsatsen diskuterar det tre uppsåtsformerna eventuellt uppsåt med hypotetiskt prov, likgiltighetsuppsåt och kvalificerat sannolikhetsuppsåt. Syftet är att jämföra dessa uppsåtsformer ur ett skuldperspektiv och undersöka vilken uppsåtsform som är bäst lämpad att användas som gräns för det personliga ansvaret. Uppsåtet är en viktig del av det svenska brottsbegreppet. För att ansvar ska kunna dömas

Ethanol and water form an azeotropic mixture at an ethanol molecular percentage of ∼91% (∼96% by volume), which prohibits ethanol from being further purified via distillation. Aqueous solutions at different concentrations in ethanol have been studied both experimentally and theoretically. We performed cylindrical micro-jet photoelectron spectroscopy, excited by synchrotron radiation, 70 eV above C

The nature of the few known solar-mass stars simultaneously containing debris disks and planets remains an open question. A number of works have shown that this property appears to be independent of planetary masses as well as of stellar age, but possible correlations with stellar kinematics and metallicity have not been investigated. In this paper, we show that the majority of known stars contain

Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs is challenging since >280 genes are associated with these conditions. While whole exome sequencing (WES) is commonly used by diagnostic facilities, the

I denna uppsats undersöks huruvida det av Liberalerna föreslagna gottgörande arbetet som disciplinåtgärd i grundskolan är förenligt med det rättighetsskydd som stadgas i svensk rätt, genom RF och SkolL, och det rättighetsskydd som stadgas i EKMR genom artiklarna 4 och 14. Det saknas utrymme för gottgörande arbete som disciplinåtgärd i nuvarande SkolL. I SkolL stadgas att barnets bästa ska beaktaThis paper examines whether the compensatory labour proposed by the Swedish Liberal Party as a disciplinary measure in elementary school is compatible with the protection of rights enshrined in Swedish law, through the Constitution and the Education Act, and the protection of rights enshrined in the European Convention on Human Rights through Articles 4 and 14. There is no provision for compensa

https://www.iac.lu.se/processing-emilia-bongilaj-phillip-staffa - 2026-07-05

IASPIS residency 1 October to 31 December 2021 Francesco Fonassi is an Italian artist, sonic researcher and musician operating in the field of live media, contemporary art, transmission art and experimental music since 2006. His work, developed through actions, recordings, environmental configurations, radio transmissions, listening sessions, sculptural prototypes, experimental music and the creat

https://www.iac.lu.se/iaspis-residency/francesco-fonassi - 2026-07-05

https://www.huntington-research.lu.se/point-mutation-dynein-heavy-chain-gene-leads-striatal-atrophy-and-compromises-neurite-outgrowth - 2026-07-05