Megalencephalic leukoencephalopathy with subcortical cysts (MLC), is a congenital leukodystrophy with childhood onset. It is an extremely rare genetic disorder of the brain that affects less than 1 per 1,000,000 live births. Patients typically present macrocephaly during early childhood and later develop symptoms like decreased motor and cognitive functions, and epileptic seizures, all of which us

Utvärdering av Variantrankmodellen vid Genetiska Sjukdomar Vid misstänkt genetisk sjukdom kan en person få remiss till helgenomsekvensering, vilket är en teknik där näst intill hela DNA-uppsättningen (genomet) hos patienten blir avläst. Detta kan användas till att hitta skillnader, eller varianter, mellan patientens genom och ett friskt genom. Alla människor har väldigt många små ofarliga genetisIn this master’s thesis, different options to update the variant rank model used at the University hospital in Lund are presented. The variant rank model filters genetic variants from whole genome sequencing. This is done to identify potential causative variants in patients. Since the knowledge concerning these variants and rare genetic diseases grows rapidly, the model which filters said variants

Travelling in a straight line, answers in a beetle brain If you find yourself outdoors in South Africa you might stumble upon a ball-rolling dung beetle determinately rolling a dung ball. if you then follow the direction of the beetle from where it was rolling along a straight line, you will find yourself at a dung pat. The dung beetle is capable of rolling a dung ball in a straight line. It assi

En potentiell biomarkörer för prostatacancer metastaser Prostatacancer (PCa) är den vanligaste cancerformen hos män i industriländer. Då den primära tumören inte längre är en stor utmaning för dagens medicin, är den metastaserande sjukdom den främsta orsaken till cancerrelaterade dödsfall hos dessa män. Trots många olika palliativa behandlingar mot metastaser, finns det ingen tillgänglig behandl

A guide in the darkness; A system shedding light on mRNA pseudouridylation by PUS7 Proteins, the building blocks of life, are produced from messenger RNA (mRNA). mRNA is built by four ribonucleotides, namely adenine (A), guanine (G), cytosine (C) and uridine (U). Interestingly, RNA includes also chemically modified versions of the above nucleotides affecting many physiological processes. The most

Type 2 diabetes is a growing health problem. 537 million people had diabetes in 2021 and the number is continuously increasing. Our group previously showed that the isoforms of the complement inhibitor CD59, named IRIS-1 and IRIS-2 (Isoforms Rescuing Insulin Secretion 1 and 2) are localized in the cytoplasm of pancreatic ß-cells, where they are needed for insulin secretion. A downregulation in the

Decoding Colors: How mutations in barley genes affect pigmentation Plants are an incredibly diverse group of organisms that share one crucial component: the presence of a green pigment called chlorophyll. Chlorophyll plays a pivotal role in capturing light energy and facilitating the process of photosynthesis, which converts this light energy into chemical energy. The green appearance of plants i

Syftet med uppsatsen är att undersöka hur tolv svenska skönlitterära förlag tänker kring att använda AI (artificiell intelligens) inom sin verksamhet, vilka hinder som kan finnas, samt om åsikterna kring AI är kopplade till synen på litterärt värde. Frågeställningarna som undersökningen utgår från fokuserar på hur förlagsanställda ställer sig till den potentiella användningen av AI i förlagsarbete

Klimatförändringar utgör ett stort hot mot mänskligheten. Samtidigt som den vetenskapliga kunskapen om problemen aldrig har varit större minskar inte utsläppen. Expertgruppen IPCC är en särskilt spännande aktör i sammanhanget och har till uppdrag att ge världens ledare kunskap om klimatfrågan. Men hur ser egentligen IPCC på klimatfrågan och hur menar de att våra klimatproblem kan lösas? Syftet m

HOW WILL SOIL BACTERIA REACT TO RISING TEMPERATURES? A significant amount of carbon is stored in soil, where microbes play a crucial role in determining how much carbon gets fixed and how much is released as CO2 into the atmosphere. This depends on the balance between microbial growth, which fixes carbon in soils, and in contrast on respiration which leads to the release of CO2. Approximately 50%

Reinforcement learning is one of the three main paradigms in machine learning, which is increasingly used as a method to approach scientific problems. In this thesis, we introduce and use reinforcement learning to find the optimal parameters of a numerical solver. We first motivate that solving the linear systems can be done by solving initial value problems. These initial values problems can the

Forskningsfråga: Hur presenteras reklamfilmer av ett nytt varumärke för att bygga en stark och värdefull varumärkesidentitet? Syftet: Syftet med studien är att urskilja vad det är i Polestars reklamfilmer som skapar dess styrka i varumärkesidentiteten och hur reklamfilmerna porträtterar varumärkets identitet och personlighet. Denna studie syftar till att bidra med insikt och kunskap hur varumärken

This thesis will be an attempt to look beyond this relatively new conceptualisation of CRSV committed in the context of terrorism, so called ‘sexual terrorism’, to determine what are its implications for the development of the WPS agenda. Answering the research question ‘What are the consequences of the increased linking of CT and WPS, in particularly with regards to the consideration of sexual te

IKEA is a Swedish company that has been the largest retailer of furniture for the past fifteen years. Selling orders worth EUR 44.6 billion in 2022, IKEA has to meet great logistic needs in order to maintain a functioning business. In the current IKEA landscape teams that consume order data have to listen to multiple sources and compare the data they receive to get specific information from an ord

This project is about designing outerwear for equestrians. Jackets used in stables are often just like other jackets, and not optimized for the context. Being around horses includes needs, safety risks and movements that are irrelevant in most other situations. The product is a garment design that is adapted to the objects and activities that equestrians face on a daily basis. Integrated soft cove

The situation for the environment is in many ways dire. However, amidst all the negative environmental developments it is easy to neglect the successes that have actually happened. With the aim of better understanding what factors facilitated such a success this thesis analyses one such case, namely emissions of dioxins and chlorinated waste from the pulp and paper industry in Sweden. Dioxins were

Switzerland's current food system is unsustainable and responsible for 25% of the country's environmental footprint. Half of the greenhouse gas emissions from the Swiss food system are caused by meat and dairy consumption. Reducing Switzerland's GHG emissions from the food system requires an orchestrated approach, targeting amended consumption and production patterns. A primary change

In an era of globalization, where decision-making transcends national boundaries, it is crucial to recognize the importance of individual participation in shaping the international legal sphere. This recognition becomes even more critical in the 21st century, as we are faced with the need to respond to global challenges and emergencies that demand the collaboration of diverse actors. The inclusive