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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
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
Aims: The role of resection remains debated in cases of metastatic gastric carcinoma (mGC). Some mGCs are technically resectable. At the population level, the real-world application of resection for mGC remains largely unclear in most Western countries. This large, population-based international investigation aimed to reveal the resection patterns and trends for mGC and the treatment-associated fa
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
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
Reversible phosphorylation is an important regulatory mechanism. Regulation of protein phosphorylation in β-cells has been extensively investigated, but less is known about protein dephosphorylation. To understand the role of protein dephosphorylation in β-cells and type 2 diabetes (T2D), we first examined mRNA expression of the type 2C family (PP2C) of protein phosphatases in islets from T2D dono
Human-mediated changes in island vegetation are, among others, largely caused by the introduction and establishment of non-native species. However, data on past changes in non-native plant species abundance that predate historical documentation and censuses are scarce. Islands are among the few places where we can track human arrival in natural systems allowing us to reveal changes in vegetation d
Objectives: To evaluate whether the Morphological Uterus Sonographic Assessment (MUSA) features of adenomyosis need to be better defined and, if deemed necessary, to reach consensus on the updated definitions. Methods: A modified Delphi procedure was performed among European gynecologists with expertise in ultrasound diagnosis of adenomyosis. To identify MUSA features that might need revision, 15
Background: The purpose of treating toxic nodular goitre (TNG) is to reverse hyperthyroidism, prevent recurrent disease, relieve symptoms and preserve thyroid function. Treatment efficacies and long-term outcomes of antithyroid drugs (ATD), radioactive iodine (RAI) or surgery vary in the literature. Symptoms often persist for a long time following euthyroidism, and previous studies have demonstrat
Genome-wide association studies have identified multiple single-nucleotide polymorphsims (SNPs) associated with prostate cancer (PCa). Although these SNPs have been clearly associated with disease risk, their relationship with clinical outcomes is less clear. Our aim was to assess the frequency of known PCa susceptibility alleles within a single institution ascertainment and to correlate risk alle
This paper aims to reveal how urban ‘development-induced displacement’ (Koenig, 2015; Neef and Singer, 2015) shapes and perpetuates modalities of spatial violence in the context of rapidly urbanising Southeast Asia. While Southeast Asian postcolonial scholars have explored some manifestations of spatial violence such as displacement, a comprehensive regional analysis is still lacking, especially i
