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Background: Genetic variants in SEC61A1 are associated with autosomal dominant tubulointerstitial kidney disease. SEC61A1 is a translocon in the endoplasmic reticulum membrane and variants affect biosynthesis of renin and uromodulin. Methods: A patient is described that presented at 1 year of age with failure-to-thrive, kidney failure (glomerular filtration rate, GFR, 18 ml/min/1.73m2), hyperkalem
Betydelsen och innebörden av konsumenttjänstlagens fackmässighetsbegrepp som återfinns i 4 § KtjL är svårdefinierbar. Lagen som tillämpas på flera olika typer av tjänster saknar en specifik definition på en tjänsts praktiska utförande. Begreppet fackmässighet baseras på hur branschen ser ut, vilka metoder som används och vilka regler som gäller i nuläget. Detta arbete har haft som syfte att redaThe Consumer Services Act´s professional execution, which can be found in § 4 KtjL, has generated a wide array of interpretations. The law is applicable to several different varieties of services and therefor lacks a specific and coherent definition of how a service should be performed. The concept of professionalism is based on the type of business, what methods are used and which rules that curr
Sekundär användning av e-hälsodata är ett viktigt steg i att direkt och indirekt stärka vården, både inom Sverige och EU. Inom kort förväntas den uppmärksammade EU-förordningen om ett European Health Data Space (EHDS) antas. Genom förordningen kommer ett gemensamt hälsodataområde skapas vilket bland annat möjliggör sekundär användning av uppemot 450 miljoner EU-medborgares e-hälsodata för exempelvSecondary use of e-health data is an important step in directly and indirectly strengthening healthcare, both in Sweden and the EU. The anticipated EU regulation on a European Health Data Space (EHDS) will create a common health data space, allowing for the secondary use of the e-health data of up to 450 million EU citizens for research, innovation and decision-making. This has the potential to re
Frågan om utländska direktinvesteringar och främmande staters inflytande i Sveriges känsliga angelägenheter är en som aktualiserats mycket på senare år, inte minst på grund av det alltmer ansträngda omvärldsläget. Den första december 2023 antogs UDI-lagen, som ger möjlighet att granska investeringar i svensk skyddsvärd verksamhet, och eventuellt förbjuda dem, om de anses kunna vara potentiellt ska
This thesis explores the interaction between conceptions of the right of self-defense in the legally unsettled contexts of cyber armed attacks and non-state actors on foreign territory, examining their respective operational complexities individually and synergistically. Utilizing a legal positivist methodology, the thesis highlights how interpretations of the ratione conditionis of the lawful exe
Since the start of the Arab Spring in 2010, the Middle East has changed drastically. As a result, global and regional powers have turned to the most vulnerable countries, including Syria and Yemen. Saudi Arabia, a regional power, has been actively involved in both the civil wars of Syria and Yemen. This study focuses on the Saudi foreign policy discourse vis-à-vis two cases, Syria and Yemen. Since
Dagens textilindustri är starkt präglad av fast fashion, en global industri som bygger på stora inköp och små marginaler vilket leder till en överproduktion där 40 procent av de textilier som tillverkas globalt aldrig kommer ut på marknaden. Detta resulterar i bristande arbets- och levnadsförhållanden i produktionsländer samt enorma utsläpp. Med hjälp av politiska incitament och teknologiska framsToday's textile industry is strongly characterized by fast fashion, a global industry based on large purchases and small margins, leading to overproduction where 4 percent of the textiles produced globally never reach the market. This results in poor working and living conditions in producing countries and huge emissions. With policy incentives and technological advances, we can move towards l
A significant proportion of the diversity of species seen today are insects and their host plants, and the evolutionary mechanisms behind their radiation have long captured the interest of biologists. The peacock flies of the large genus Tephritis (Tephritidae) use different host plants in the family Asteraceae for their reproduction. There is variation both in use of host plant species and in the
A novel interferometric technique to measure small wedge angle of transparent windows is proposed. The technique is based on the measurement of the shift of the interference pattern generated by two sheared copies of a laser beam after crossing the optical wedge. A simple lens is used to combine the two beams in their focal plane and measurements are taken for different shears. It is not necessary
We investigated the water sorption properties of macroporous cryogels of gelatine (Gel) and dextran dialdehyde (DDA) prepared via cryogelation at 260 K and following the freeze drying processes. Water vapour sorption isotherms for aerogels were studied at 293 K by two inde-pendent methods: static-gravimetric and dynamic vapour sorption (DVS) over a water activity range of 0.11–1.0. Experimental da
When referring to non-present entities, speakers and signers can select from a range of different strategies to create expressions that range from extremely concise to highly elaborate. This design of referring expressions is based partly on the availability of contextual information that can aid addressee understanding. In the small signing community of Providence Island, signers' heavy reliance
The aim of this study is to characterize atrial fibrillatory rate (AFR) extracted from a cohort of continuously monitored atrial fibrillation (AF) patients as function of episode duration and onset time. The f-wave signal used to compute the AFR was extracted from a single lead ECG strip of the AF episodes stored in an Implantable Cardiac Monitor (ICM) in a cohort of 99 patients. The f-wave signal
Digital technologies have undoubtedly changed the outline of the organization of the modern society and indicated an emergence of the new era of its governance. Such manifestations of digitalization as social media, platform economy, big data, AI, fintech, blockchain and internet of things have become an integral and sometimes even unnoticeable part of our life having brought up, on the one hand,
BACKGROUND: TKA generally has excellent long-term survivorship. When a new knee system supersedes a previous model, increased survivorship, improved functional performance, or both may be expected, because key areas of design modification are often targeted to address wear, stability, and the patellofemoral articulation. However, not all design changes are beneficial, and to our knowledge, knee ar
Purpose: This paper has chosen a participatory action design (PAD) to approach the construction of KPIs in a novel way. A PAD will assist the researcher to encourage involvement, engagement of multiple stakeholders in the KPIs construction process. Design/methodology/approach: A workshop series based on participatory action design was developed together with the researcher and stakeholders at the
This article presents and discusses the case study “Scraping the surface,” aworkshop about sustainable design held for master’s students of different design majors at the FHNW Academy of Art and Design. Through marketing we, as consumers, are bombarded with products claiming to be sustainable. As a result, sustainability has become a buzz word. “Scraping the surface” highlighted the complex factor
According to Lefebvre, modern capitalism has led to the commodification of urban life. Even though commodification has taken multiple distinct forms across the urban fabric, it could be argued that no urban feature is more representative of the proliferation of exchange values than shopping malls. Despite being privately owned and managed, commercialised and highly securitised, shopping malls have
