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Miller syndrome is a rare Mendelian disorder caused by mutations in the gene encoding human dihydroorotate dehydrogenase (DHODH). Human DHODH, a Class II DHODH, is an integral protein of the inner mitochondrial membrane (IMM) catalyzing the fourth step of the de novo pyrimidine biosynthesis pathway. Here we present a summary of the state of knowledge regarding Miller syndrome in the absence of any

Human dihydroorotate dehydrogenase (DHODH) catalyzes the fourth step of the de novo pyrimidine biosynthesis pathway and uses ubiquinone Q10, a lipophilic molecule located in the inner mitochondrial membrane (IMM), as its co-substrate. DHODH is anchored to the IMM by a single transmembrane helix located at its N-terminus. Nevertheless, how DHODH function is determined by its surrounding membrane en

Efter många år av arbete med tillgänglighet till produkter, tjänster, program och miljöer förpersoner med funktionsnedsättningar pågår nationellt och internationellt ett skifte i synsättfrån arbete med tillgänglighet för särskilda grupper till inkluderande design som har allamänniskor som målgrupp, så kallad Universell utformning (UU) eller Universal Design (UD)som det heter på engelska. En viktig

de senaste fem åren har begreppet universellutformning fått ett allt större genomslag i den svenskafunktionshinderpolitiken. En viktig anledning till detta är att Sverige ratificerade den så kalladefunktionsrättskonventionen år 2008. I konventionenförs universell utformning fram som huvudprincip ochnationellt åtagande för allt nytt som skapas i samhället.Det innebär att alla nya produkter, varor,

När Certec i år arrangerar ”Certec informerar” för 25:e gången firar vi det genom att i bild och text ge bort en tankebok med 25 viktiga tankar och tankesätt som vuxit fram under åren som gått.Att skapa ny kunskap tar tid. När vi till vardags håller på med att skapa användvärd teknik genom människonära design är det sällan någon quick fix. Bakom uppnådda resultat finns det en ständigt pågående teo

The European Spallation Source (ESS) is a neutron-based research facility under construction in Lund in southern Sweden. The spallation reactions will generate not only the desired neutrons, but also many radioactive byproducts, including 14C. As part of the licensing process, and as recommended by the IAEA, various preoperational studies are being carried out, including mapping the “zero-point” r

Objective: To determine incidence rate and predictors of venous thromboembolic events (VTE) in a population-based cohort with ANCA-associated vasculitis (AAV). Methods: The study comprised 325 patients diagnosed with AAV from 1997 to 2016. All cases of VTE from prior to vasculitis diagnosis to the end of the study period were identified. The BVAS was used to assess disease activity at diagnosis. V

Individuals with rapidly progressing atherosclerotic plaques are at higher risk of experiencing acute complications. Currently, we lack knowledge regarding factors in human plaque that cause rapid progression. Using the 14C bomb-pulse dating method, we assessed the physical age of atherosclerotic plaques and which biological processes were associated with rapidly progressing plaques. Interestingly

Objective: To determine the burden of comorbidities in OA and their temporal relationships in the UK. Methods: The Clinical Practice Research Datalink (CPRD) GOLD was used to identify people with incident OA and age, gender and practice matched non-OA controls from UK primary care. Controls were assigned the same index date as matched cases (date of OA diagnosis). Associations between OA and 49 in

Objective: To investigate the occurrence of venous thromboembolic events (VTE) in a large cohort of patients with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) across the European Union, Turkey, Russia, UK and North America. Methods: Patients with a definite diagnosis of AAV who were followed for at least 3 months and had sufficient documentation were included. Data on VTE

The personal character of ethnography makes it meaningful to pay attention to emotions during fieldwork, not the least of which is awkwardness or embarrassment. To make a fool of oneself or to commit a faux pas in the field belongs to the palette of the ethnographic experience, and is often defined as helpful for obtaining new knowledge about the setting. But whereas many ethnographers emphasize t

The dolphin-like ichthyosaurs – also known as ‘fish lizards’ – are extinct marine reptiles that roamed the Mesozoic oceans for some 160 million years. As for most ancient vertebrates, our knowledge of these iconic animals largely derives from biomineralized hard parts (teeth and bones). However, soft tissues are also known from a number of Lagerstätte specimens, and have opened up new avenues for

This is a comment on Michaelian and Simeonov (2015). Michaelian and Simeonov formulate the leading thought in their article: “The driving force behind the origin and evolution of life has been the thermodynamic imperative of increasing the entropy production of the biosphere through increasing the global solar photon dissipation rate”. I shall in the following try to provide some information that

Background: Arterial stiffness is independently associated with orthostatic hypotension. We aimed to investigate the relationship between orthostatic blood pressure reaction and arterial stiffness as well as central hemodynamics in younger subjects from the general population.Methods: We analyzed a large prospective cohort study of 3756 individuals from the general population (mean age 41.9±14.5 y

Oxygenic photosynthesis takes place in thylakoid membranes (TM) of cyanobacteria, algae, and higher plants. Itbegins with light absorption by pigments in large (modular) assemblies of pigment-binding proteins, which thentransfer excitation energy to the photosynthetic reaction centers of photosystem (PS) I and PSII. In green algaeand plants, these light-harvesting protein complexes contain chlorop

The Polycomb complex protein Bmi1 is regarded as a master regulator of hematopoietic stem cells (HSCs). In the blood system, HSCs express Bmi1 most abundantly and Bmi1 expression vanes as cells differentiate. Furthermore, Bmi1 has been found overexpressed in several hematologic cancers. Most studies exploring the normal role of Bmi1 in HSC biology have utilized loss-of-function models, which have

INTRODUCTION: Childbirth is a life-changing event where fathers desire being involved. As fathers take a more active role, fear of childbirth can arise. The aim of this study was to explore fathers' experiences of childbirth fear during pregnancy and after the birth of their baby.METHODS: This was a qualitative longitudinal prospective study that included 14 interviews with seven fathers, one duri