Bakgrund:Alzheimers sjukdom leder till nedsatta kognitiva förmågor. Det påverkar framförallt minne och kommunikationsförmåga och begränsar gradvis individens förmåga att klara vardagen själv. Närstående är viktiga i vården av den drabbade och det innebär ett stort ansvar eftersom vårdbehovet hos den drabbade ökar ju mer sjukdomen fortskrider. Syfte: Syftet var att belysa närståendes upplevelser av att vårda en anhörig med Alzheimers sjukdom. Metod: En kvalitativ litteraturöversikt baserad på nio vetenskapliga artiklar och hämtad från databaserna Cinahl Complete och PubMed. Resultat: Resultat visade både negativa och positiva upplevelser men de negativa upplevelserna dominerade Utmaningar orsakade av vårdrollen ledde till varierande känslor av börda, ensamhet, isolering, förlust och sorg. Vikten av att få stöd beskrevs. Utveckling i vårdarrollen ledde till acceptens av situationen och acceptens av den anhörige oavsett vilken fas hon/han befann sig i. Diskussion: Ökad kunskap hos vårdpersonal samt bättre förståelse av symtomen som manifestera tidigt i sjukdomens förlopp kan leda till tidigt diagnos. Anhöriga och närstående behöver känna sig sedda och behöver mötas med empati och lyhördhet. Detta i sin tur kan leda till tidiga insatser av resurser och stöd som behövs. Kompetens och god kommunikation är väsentlig för att sätta in de specifika resurser och stöd som behövs och därmed främja hälsa hos närstående och anhöriga. / Background: Alzheimer's disease leads to impaired cognitive abilities. It mainly affects memory and communication skills and gradually limits the individual's ability to cope with everyday life itself. Relatives are very important in the care of the affected person and this means a great responsibility since the need for care of the affected person increases as the disease progresses. Aim: The aim was to illuminate the experiences of loved ones caring for a relative with Alzheimer's disease Method: A qualitative review of literature based on nine scientific articles from the databases Cinahl complete and PubMed.  Results: Results showed both negative and positive experience, however, the negative experiences were in majority. Challenges caused by the caring role led to feelings of burden, loneliness, isolation, loss and grief. The importance of receiving support was described. Development in role of caregiver led, to the acceptance of the situation, and the acceptance of the relative no matter what phase of the illness he/she was in.  Discussion: Increased knowledge of healthcare professionals and a better understanding of the symptoms that manifest early in the course of the disease can lead to early intervention by relatives. Relatives and their loved ones need to feel seen and need to be met with empathy and sensitivity. This in turn can lead to early deployment of the resources and support needed. Competence and good communication are essential for putting in place these specific resources and support that is needed and thereby promoting the health of the relatives and their loved ones.

Cancer the second most common causes of death in the Czech Republic. Carriers of mutations in genes predisposing to hereditary cancers represent a small but clinically significant group of high risk individuals. Today, dozens of predisposing genes for hereditary tumor syndromes are known and targeted next generation sequencing (NGS) has become a standard approach for their analysis. NGS allows rapid acceleration diagnostics of causal mutation in high-risk individuals. To identify mutations in genes predisposing to hereditary cancers, we designed a panel NGS analysis including subsequent bioinformatics analysis allowing a reliable identification of single nucleotide variants, insertions/deletions, and large intragenic rearrangements. The bioinformatics procedures described in this thesis were used for panel NGS validation, but also for identification of alterations associating with so far undescribed hereditary tumor types. Bioinformatics analyzes have become the basis for the unified processing of large datasets from the CZECANCA consortium and enable the construction of a population-specific database of genotypes that serve to improve clinical diagnostics of cancer predisposition in Czech patients. The versatility of NGS also allows its use for RNA (cDNA-based) analyzes of splicing variants in the...

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>Magister Scientiae - MSc / Rooibos (Aspalathus linearis) is endemic to the Cederberg region of South Africa, and one of the few indigenous medicinal plants commercially cultivated in the country. International interest in rooibos is growing, and currently most of the rooibos harvest is exported overseas to more than 30 countries. Various problems hamper the growth of the rooibos industry, including insect pests, diseases, drought and a decreasing lifespan of the plants. The availability of whole-genome data for rooibos can contribute to the selection of genetically superior plants, facilitating not only the identification of important genes and metabolic pathways in rooibos, but also the establishment of breeding programs.

<div>In the U.S., unitary residential air conditioners are rated using standard AHRI 210/240 that is inadequate to credit equipment with advanced controls and variable-speed components since the ratings are based on results of steady-state laboratory tests. Contrarily, a load-based testing and rating approach is presented in this work that can capture equipment performance with its integrated controls and thermostat responses that is more representative of the field. In this approach, representative building sensible and latent loads are emulated in a psychrometric test facility at different indoor and outdoor test conditions utilizing a virtual building model. The indoor test room conditions are continuously adjusted to emulate the dynamic response of the virtual building to the test equipment sensible and latent cooling rates and the equipment dynamic response is measured. Meanwhile, the inlet temperatures to the test equipment thermostat are independently controlled to track the same virtual building response using a thermostat environment emulator that encloses the test thermostat, that provides typical flow conditions and of which the design and control are presented in this work. Climate-specific cooling seasonal performance ratings can be determined by propagating load-based test results through a temperature-bin method to estimate a seasonal coefficient of performance (SCOP). In addition, a next-generation rating approach is developed that extends load-based testing for performance mapping, such that the SCOP can be obtained using building simulations that incorporate specific building types, climates and an equipment-specific performance map. </div><div> </div><div>In this work, the proposed approaches were implemented to test and rate a variable-speed residential heat pump operating in cooling mode. Trained with results from only 12 load-based test intervals carried out using the test equipment, a quasi-steady-state mapping model was able to map the equipment performance across almost the entire operating envelope within $\pm10\%$ errors and the $R^2$ values were very close to 1. Using the identified performance map, the next-generation SCOP was obtained based on an annual simulation deployed in EnergyPlus, where the map was coupled to a typical single-family building in Albuquerque,NM. Compared to the temperature-bin-based rating, this simulation-based rating is able to comprehensively and appropriately reflect equipment annual field performance associated with a specific building type and climate, as the rating is extended from automated laboratory load-based testing and performance mapping.</div>

The application of Y-chromosome analysis is expanding in fields such as forensic science and genealogy. By researching the potential polymorphisms this chromosome can present, we can further our ability to assess DNA profiles for these disciplines to avoid erroneous exclusions of paternal linkage, wrongful convictions based on forensic evidence, and other misinformed genetic conclusions. The conservation of Y-haplotypes during transmission occurs due to a relative lack of genetic recombination events in the inheritance of the Y-chromosome [1]. However, random mutation events can occur in a paternal line resulting in haplotype changes. These changes can include allele duplications and deletions that occur at the STR and SNP loci used in forensic DNA analysis. This can become important in cases of sexual assault where male-female mixture samples have low amounts of male DNA such that the male signal is not amplified in currently used STR multiplexes [7]. In this study, we analyzed a father and his eleven sons using two different methodologies for genetic analysis; next generation sequencing and capillary electrophoresis. The samples were obtained from the Coriell Institute for Medical Research located in Hamden, NJ, in the form of frozen DNA extracts isolated from a blood-sourced lymphocyte cell culture [22]. DNA from these samples was tested with the ForenSeqTM DNA Signature Prep Kit [14] (Verogen, San Diego, CA) primer set A and the YFilerTM Plus PCR Amplification Kit [24] (Thermo Fisher Scientific, Waltham, MA). Using these two platforms, three Y-STR loci were identified as discordant between the father and all of his eleven sons. In all three instances, the father possessed the same allele as the sons as well as one additional allele. At two of these loci (DYS449 and DYS635), the additional allele was one repeat (4bp) longer than that of the shared allele. At the other locus (DYS458), the additional allele was three repeats (12bp) longer than that of the shared allele. Following read count and peak height analysis, it was concluded that these double allele loci are not the product of stutter and are potentially the product of a non-inheritable mutation. With the knowledge that the DNA was extracted from a blood lymphocyte cell culture, it is believed that a somatic mutation may be present in the cell line. We are not able to determine whether the mutations exist in the blood of the father (true somatic mutations) or occurred as a result of the cell culture process. Throughout the study, details concerning the position of these loci on the Y-chromosome, the repeat motifs of the alleles, and the potential for duplication and/or stutter as the originating event are discussed in an effort to further understand this phenomenon. Potential locus duplications were compared to those reported on the National Institute of Standards and Technology STRBase [21] list of allele variations and also to information found in literature. The observed DYS635 locus had an allele designation of 21,22 which is reported on STRBase. The DYS449 and DYS458 loci showed potential allele-specific locus duplications that were not found on STRBase. The implications of potentially undocumented non-inheritable allele patterns in the Y-chromosome, such as this, are significant when considering comparisons between DNA obtained from germline cells (sperm) versus a known casework sample which is usually obtained from blood or saliva [7].

This work summarizes the results of a research inquiring into relatively rare neuroendocrine tumors - pheochromocytomas and paragangliomas (PHEO/PGL) These tumors may arise on a hereditary genetic predisposition basis. On that account we primarily focused on a genetic examination of patients with PHEO/PGL. Methods for diagnostics of changes in SDHD, SDHB and RET genes were implemented. The number of examined genes has been (and is still being) extended. Currently we are investigating these genes: ATRX, BRAF, CDH1, CDKN2A, CDKN2B, FGFR1, FH, FHIT, GNAS, HIF2A (EPAS1), H-RAS, IDH1, IDH2, KIF1Bß, KMT2D, K-RAS, MAML3, MAX, MDH2, MET, NF1, NGFR, N-RAS, PHD2/EGLN1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TERT, TMEM 127, TP53 and VHL, using next generation sequencing. The number of variations of the above mentioned genes is different (23%) in Czech patients with PHEO/PGL in comparison with some foreign studies (27%, 40%). This may be caused by geographical influences or selection of patients. PHEO/PGL occur mainly (75%) in a benign form. A malignant form may be indicated by the presence of chromaffin tissue in locations where these tumors do not usually occur - liver, lungs, bones. In our study we focused on characteristics indicating the malignancy, for example, the lower age of patients with the first manifestation...

Advances in sequencing technologies constantly improves the throughput andaccuracy of sequencing instruments. Together with this development comes newdemands and opportunities to fully take advantage of the massive amounts of dataproduced within a sequence run. One way of doing this is by analyzing a large set ofsamples in parallel by pooling them together prior to sequencing and associating thereads to the corresponding samples using DNA sequence tags. Amplicon sequencingis a common application for this technique, enabling ultra deep sequencing andidentification of rare allelic variants. However, a common problem for ampliconsequencing projects is formation of unspecific PCR products and primer dimersoccupying large portions of the data sets. This thesis is based on two papers exploring these new kinds of possibilities andissues. In the first paper, a method for including thousands of samples in the samesequencing run without dramatically increasing the cost or sample handlingcomplexity is presented. The second paper presents how the amount of high qualitydata from an amplicon sequencing run can be maximized. The findings from the first paper shows that a two-tagging system, where the first tagis introduced by PCR and the second tag is introduced by ligation, can be used foreffectively sequence a cohort of 3500 samples using the 454 GS FLX Titaniumchemistry. The tagging procedure allows for simple and easy scalable samplehandling during sequence library preparation. The first PCR introduced tags, that arepresent in both ends of the fragments, enables detection of chimeric formation andhence, avoiding false typing in the data set. In the second paper, a FACS-machine is used to sort and enrich target DNA covered emPCR beads. This is facilitated by tagging quality beads using hybridization of afluorescently labeled target specific DNA probe prior to sorting. The system wasevaluated by sequencing two amplicon libraries, one FACS sorted and one standardenriched, on the 454 showing a three-fold increase of quality data obtained. / QC20100907

During the last decade, the use of Next-Generation Sequencing(NGS) technologies has sky-rocketed. The vast amount of data produced by these platforms require processing and analysis. This is usually performed at locations remote from the sequencing facilities thereby introducing the need for data-transportation to the place of analysis. The use of internet transfer would greatly facilitate the process, however since NGS data is considered to be personal sensitive information the handling of the data is highly regulated by the General Data Protection Regulation(GDPR). During this project, a web-based application was developed for the privacy-protecting transfer of personal sensitive data, implementing an in-motion encryption scheme which ensures data integrity and authenticity. The application consists of three scripts: the HTML web page with JavaScript functionality, a PHP script responsible for connection establishment and integrity verification, and a Python script executing the majority of the server-side operations. The resulting application uses the symmetric encryption algorithm AES in GCM mode, using a key size of 128 bits and transfers 60 Kibibytes of the file at a time. The key is established by using the asymmetric RSA encryption scheme with a 4096 bit key pair. SHA-256 is used for verifying the integrity of the transferred files. The JavaScript encryption speed is 584 MB/s and the Python decryption speed 251 MB/s. While the focus of the project was to optimize the application for NGS data, it is not limited to this type of file and can transfer different formats, enabling the use in multiple different fields.

<div>Machine learning models are rising every day. Most of the Computer Vision oriented</div><div>machine learning models arise from Convolutional Neural Network’s(CNN) basic structure.</div><div>Machine learning developers use CNNs extensively in Image classification, Object Recognition,</div><div>and Image segmentation. Although CNN produces highly compatible models with</div><div>superior accuracy, they have their disadvantages. Estimating pose and transformation for</div><div>computer vision applications is a difficult task for CNN. The CNN’s functions are capable of</div><div>learning only shift-invariant features of an image. These limitations give machine learning</div><div>developers motivation towards generating more complex algorithms.</div><div>Search for new machine learning models led to Capsule Networks. This Capsule Network</div><div>was able to estimate objects’ pose in an image and recognize transformations to these</div><div>objects. Handwritten digit classification is the task for which capsule networks are to solve</div><div>at the initial stages. Capsule Networks outperforms all models for the MNIST dataset for</div><div>handwritten digits, but to use Capsule networks for image classification is not a straightforward</div><div>multiplication of parameters. By replacing the Capsule Network’s initial layer, a</div><div>simple Convolutional Layer, with complex architectures in CNNs, authors of Residual Capsule</div><div>Network achieved a tremendous change in capsule network applications without a high</div><div>number of parameters.</div><div>This thesis focuses on improving this recent Residual Capsule Network (RCN) to an</div><div>extent where accuracy and model size is optimal for the Image classification task with a</div><div>benchmark of the CIFAR-10 dataset. Our search for an exemplary capsule network led to</div><div>the invention of RCN2: Residual Capsule Network 2 and RCNX: Residual Capsule NeXt.</div><div>RCNX, as the next generation of RCN. They outperform existing architectures in the domain</div><div>of Capsule networks, focusing on image classification such as 3-level RCN, DCNet, DC</div><div>Net++, Capsule Network, and even outperforms compact CNNs like MobileNet V3.</div><div>RCN2 achieved an accuracy of 85.12% with 1.95 Million parameters, and RCNX achieved</div><div>89.31% accuracy with 1.58 Million parameters on the CIFAR-10 benchmark.</div>