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Familial hypercholesterolemia (FH) is a common autosomal codominant disease with a frequency of 1:500 individuals in its heterozygous form. The genetic basis of FH is most commonly mutations within the LDLR gene. Assessing the pathogenicity of LDLR variants is particularly important to give a patient a definitive diagnosis of FH. Current studies of LDLR(More)
BACKGROUND Plasmodium falciparum, has developed resistance to many of the drugs in use. The recommended treatment policy is now to use drug combinations. The atovaquone-proguanil (AP) drug combination, is one of the treatment and prophylaxis options. Atovaquone (ATQ) exerts its action by inhibiting plasmodial mitochondria electron transport at the level of(More)
Familial hypercholesterolaemia (FH) is an inherited autosomal dominant disorder resulting from defects in the low-density lipoprotein receptor (LDLR), in the apolipoprotein B (APOB) or in the proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. In the majority of the cases FH is caused by mutations occurring within LDLR, while only few mutations in(More)
This document details the design and development of Umbra, an installation-based game that makes use of a semi-transparent screen projected upon from both sides. The setup enables players to be represented in-game via their shadows, instead of avatars. This document discusses the design of Umbra and how its shadow-as-avatar mechanics advance the gaming(More)
Parasitic diseases of companion animals comprise a group of globally distributed and rapidly spreading illnesses that are caused by a wide range of arthropods, helminths and protozoa. In addition to their veterinary importance, many of these parasites can also affect the human population, due to their zoonotic potential. The aim of the present work was to(More)
Stroke rehabilitation is far from meeting patient needs in terms of timing, intensity and quality. This study evaluates the efficacy and safety of an innovative technological tool, combining 3D motion analysis with targeted vibratory feedback, on upper-limb task performance early poststroke (<4 weeks). The study design was a two-sequence, two-period,(More)
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