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A novel phenotype associated with the R162W variant in the KCNJ13 gene

Background: Pathogenic variants in KCNJ13 have been associated with both autosomal dominant Snowflake vitreoretinal degeneration (SVD) and autosomal recessive Leber congenital amaurosis. SVD is characterized by aberrant vitreoretinal interface leading to increased risk of retinal detachment, crystalline retinal snowflake deposits, optic disc abnormalities, early-onset cataract, and cornea guttae.

Acetonic extracts of the endolichenic fungus EL002332 isolated from Endocarpon pusillum exhibits anticancer activity in human gastric cancer cells

BACKGROUND: Endolichenic fungi are microbes that inhabit the thalli of lichens and produce various unique chemicals that can be used for pharmaceutical purposes.PURPOSE: This study screened a library of endolichenic fungal extracts to identify novel anticancer agents capable of suppressing the tumorigenicity of human cancer cells.METHODS: Active compounds were isolated from extracts of endolicheni

Minimum Power Losses Based Optimal Power Flow for Iraqi National Super Grid (INSG) and its Effect on Transient Stability

In the present work Optimal Power Flow (OPF) with minimum net work losses for Iraqi National Super Grid (400kv) INSG which consist of 19 load buses and 6 generating buses was studied. The losses were calculated and compared with that in case of ordinary load flow which is equal to 37592 MW according to data of generation and load on 2/1/2003.Mathematical model using Lagrange method programmed in M

Increased Frequencies of Switched Memory B Cells and Plasmablasts in Peripheral Blood from Patients with ANCA-Associated Vasculitis

B cells are thought to play a central role in the pathogenesis of antineutrophil cytoplasmic antibody- (ANCA-) associated vasculitis (AAV). ANCAs have been proposed to cause vasculitis by activating primed neutrophils to damage small blood vessels. We studied a cohort of AAV patients of which a majority were in remission and diagnosed with granulomatosis with polyangiitis (GPA). Using flow cytomet

Det smarta hemmets mundanisering

The smart home around 2020 is based on interconnected software equipped things that through automation are supposed to deliver new pleasures and conveniences. This technological makeover of domestic settings is characterised by consumption of things that are promoted as novel and spectacular. If successful, these things are then gradually transformed into ignored infrastructure, into paraphernalia

Strengthened clay brick and lightweight aggregate concrete block walls tested under eccentric axial loading – a feasibility study on different strengthening techniques

Strengthening of masonry walls is a means to improve the energy performance of modern external masonry walls without further increasing their total thickness. The present paper evaluates the feasibility - here refer-ring to ease-of-application and structural performance - of several techniques aimed at strengthening mason-ry walls subjected to eccentric axial loading. Four full scale walls made of

Omfogning av tegelfasader

En översiktlig uppskattning visar att man i Sverige årligen lägger flera hundra miljoner kronor på omfogning av tegelfasader. Beslut om underhåll baseras ofta på generella mallar, utan hänsyn till det aktuella behovet. Detta medför onödigt stora utgifter samtidigt som omfogning är ett slitsamt arbete. Ett doktorandprojekt vid Lunds tekniska högskola avser ge utökad kunskap om när omfogning är rati

Work

Work is drudgery for a lot of people, whether physically or mentally, as they have to work a lot to make a living. Despite this, the work we do defines how we are perceived in society, while precarity of work has become the norm. A lot of work in capitalist growth-oriented economies is also environmentally and socially destructive. However, work can be different and meaningful, if radically reorga

Centrum kommenterar: Konsumenters förtroende för handelns datainsamling är lågt

Vissa menar att tillit och förtroende är en av de viktigaste komponenterna i relationen mellan handlare och kund. Samtidigt befinner sig i handeln i en stark förändring som har med digitalisering att göra, och de analytiska möjligheter som stora mängder data erbjuder inom såväl e-handel som fysisk handel. Tillgång till data är en förutsättning för utvecklade tjänster, individuell relevans och stär

Review: The Media World of ISIS

The Islamic State group (IS) has grabbed the world’s attention as one of the most dangerous and gruesome terrorist organizations in history. The group has been studied from different disciplines such as political science, history, and theology. Michael Krona and Rosemary Pennington’s edited volume, The Media World of ISIS, is an attempt by media studies scholars to explore different aspects and di

Recension av: En traengslernes historie. En antologi om museumsmannen og historikeren Yngvar Nielsen. Red Camilla Ruud & Gro Ween, Orkana forlag 2019.

I studiet av den norska kulturhistorien så som den framträder under andra halvan av 1800-talet och 1900-talets två första decennier är Yngvar Nielsen (1843-1916) en person som förekommer i imponerande många sammanhang. Han agerar som historiker och arkivforskare, professor i geografi, museiföreståndare, kulturhistorisk författare, föreningsgrundare och i politiken. Fenomenet med verksamhet på en l

Digitalising the Ethnographic Field in and Post Covid-19 : How (a study of ) child rights activism in India moved online

The Covid-19 pandemic has forced us all to adapt. For ethnographic areastudies, such adaptations take place both at the level of the researcher andthe researched. This essay reflects on how the study of an Indian childrights advocacy network adapted to ‘going online’ as a consequence of thepandemic and lockdown in India. Although the researcher could no longerbe physically present in the studied s