The Orthogonal Frequency Division Multiplexing is a promising technology for the Next Generation Networks. This technique was selected because of the flexibility for the various parameters, high spectral efficiency, and immunity to ISI. The OFDM technique suffers from significant digital signal processing, especially inside the Inverse/ Fast Fourier Transform IFFT/FFT. This part is used to perform the orthogonality/De-orthogonality between the subcarriers which the important part of the OFDM system. Therefore, it is important to understand the parameter effects on the increase or to decrease the FPGA power consumption for the IFFT/FFT. This thesis is focusing on the FPGA power consumption of the IFFT/FFT uses in the OFDM system. This research finds a various parameters effect on FPGA power of the IFFT/FFT. In addition, investigate the computer software used to measure and analyse the FPGA power consumption of OFDM transceivers, and selects the target hardware used in the computer software. The researched parameters include the number of bits used in calculating the phase factor precision; Cyclic Prefix length effected on IP core IFFT, Subcarrier modulation type, word length width, Real and Complex Value IFFT, IFFT length, and subcarriers sampling frequency. The real value IFFT is proposed in 1987 and implemented in this thesis. These parameters above are discussed by comparing the result between the Real and Complex value IFFT used inside the OFDM system.

The capacity of Canada’s export-oriented agrifood sectors to cope with contemporary challenges may hinge on their ability to identify new export markets. This thesis uses an import demand model, developed by Hallak (2006), to assess how per capita expenditure on Canadian agrifood exports is influenced by income growth and the presence of a preferential trade agreement for a group of emerging economies, known as ‘the Next-11.’ Results reveal that while as a group the Next-11 does not appear to be distinct from other income groups or the BRICs in terms of their expenditures on agrifood imports, Vietnam and South Korea demonstrate expenditure elasticities notably higher then other Next-11 and BRIC members. Finally, the findings cast doubt on the capacity of PTAs to enhance Canadian agrifood trade. However, this result may be indicative of Canada’s longstanding commitment to multilateral trade liberalization and the corresponding delay in the adoption of PTAs.

Demenssjukdomar drabbar mer än 35 miljoner människor världen över, en summa som kommer att fördubblas vart tjugonde år.    Demens är en global störning av intellektuella funktioner: förmågan att minnas försämras, och förmågor som att orientera sig i tid och rum, språklig förmåga, tankeprocesser som att gå från tanke till handling, problemlösande, utföra saker praktiskt och känna igen föremål. Symtomen följs ofta av förändringar i beteende och personlighet, som låg initiativförmåga, irritation, grovt socialt beteende och humörsvängningar. I Sverige diagnostiseras 25 000 personer per år, totalt så lever 160 000 personer med sjukdomen i Sverige idag. I Sverige ställs diagnosen ofta utifrån blodprover, hjärnröntgen och Mini Mental Score Evaluation-Swedish Revision tillsammans med personens sjukdomshistoria.   Efter diagnosen har ofta anhöriga många frågor om hur livet kommer att te sig framöver, är det bra att flytta eller ska man bo kvar? Hur kommer sjukdomen att förändra livet och personligheten hos den drabbade? Tidigare studier visar att dessa frågor ofta förblir obesvarade, det är svårt att få en uppföljning hos läkare och det finns få länder där stöd efter diagnosen är vanligt förekommande.    Sverige har sen 2009 lagstiftat om rätten till stöd till anhöriga och närstående med demenssjukdom eller andra kroniska sjukdomar med funktionshinder. Typen av stöd som ges skiljer sig däremot åt, Socialstyrelsen kom därför hösten 2013 ut med riktlinjer för hur stödet bör se ut för att vara effektivt: 8-10 träffar under 3-6 månader med information och socialt stöd till anhöriga. En kommun i norra delen av Sverige har gett långvarigt stöd till personer med demenssjukdom och deras anhöriga sen 2006. Ett nära samarbete med Landstinget i regionen och på senare tid även privata vårdcentraler i området har lett till att stöd kan erbjudas i direkt samband med diagnostillfället. Personerna deltar ofta i stödgrupp inom ca 4-6 veckor efter sin diagnos. Avhandlingens syfte var att fördjupa kunskapen om personernas upplevelse av att vara i stödgrupp under lång tid; den längsta i 4 år. Intervjuer gjordes med anhöriga och personer med demenssjukdom. Resultaten visade att de par som varit med längst i stödgrupp kände sig trygga, de upplevde att de fick god kunskap om demens och var förberedda på den förändring som skulle komma. Resultaten visade också att vara vuxet barn till en person med demens innebar att vara tyngd av ansvar för att agera i den sjuka förälderns intresse trots en djup känsla av sorg of förlust vilket ofta leder till frustration med situationen. Relationerna inom familjen kan förändras efter demens diagnosen både till det bättre; att man sluter upp kring den demenssjuke föräldern men också till det sämre; att familjen splittras då relationerna utsätts för påfrestningar. Personerna med demenssjukdom som deltog i stödgrupperna upplevde och skattade sin känsla av sammanhang högt; att livet var meningsfullt, begripligt och hanterbart. Deras friska partner upplevde mindre begriplighet och hanterbarhet och de vuxna barnen mer meningsfullhet. Avhandlingens resultat har legat till grund för en modell för stöd till personer med demenssjukdom och deras anhöriga kallat PER-modellen®; Pedagogisk, Emotionell och Relationsbaserad modell för stöd. / Dementia disorders affect more than 35 million people around the world, which will double every twenty years. Dementia is a global disruption of intellectual functioning; there is a decrease of memory ability and other intellectual abilities such as orientation, visuospatial- perceptive ability, language, thinking, executive abilities, problem solving, apraxia and agnosia.  These symptoms are often followed by behavioral changes and changes in the personality, such as loss of initiative, emotional instability, irritation, apathy, coarse social behaviour and mood changes. The most frequent symptoms were apathy, depression, irritability, and agitation. About 25, 000 persons are diagnosed with dementia each year in Sweden. Today, estimates are that 160, 000 persons in total are suffering from dementia in Sweden. In Sweden, most diagnoses are done in the primary health care setting by general practitioners  and are based on the person´s own history, interviews with next of kin and an Mini Mental Score Evaluation- Swedish Revision (MMSE-SR) along with blood work and a brain scan to rule out any other diseases. After diagnosis the next of kin often have many questions about the coming lifestyle changes and ways to handle the personality changes that the person suffering from dementia may go through. Previous studies show that in many cases these questions are left unanswered, because it is difficult to get a follow up with a physician and there are few countries where support after diagnose is common.    In 2009, the Swedish Parliament passed a new law that states that support is to be given to persons caring for people with chronic illnesses, elderly people, or people with functional disabilities. There was, however, no detailed description of the extent or kind of services to be provided, and the municipalities had extensive freedom in implementing the legislation. In the autumn of 2013 the Swedish National Health Board therefore, issued guidelines where eight to ten meetings during a three- to six-month period with information and social support were recommended.A municipality in northern Sweden have a long term ongoing support to persons with dementia and their next of kin since 2006. A close collaboration with the geriatric clinic and private health centers has resulted in support being offered within 4-6 weeks after diagnose.     The overall aim of this thesis was to explore experiences of living with dementia both as a sufferer and as a next of kin; and being part of a long-term ongoing support group, the longest for four years.     Interviews were done with persons with dementia and their next of kin. Results showed that couples who had been the longest in a support group felt great comfort and support. They experienced that their knowledge about the disorder was good and that they could prepare for the changes to come. Results also showed that to be an adult child of a person with dementia disease means being burdened with the responsibility to act on behalf of the diseased parent despite a deep sense of grief and loss, which leads to frustration with the situation.     Relationships within the family can sometimes change when a family member is affected by dementia. Sometimes for the better; where the family rallied to support the affected member and sometimes for worse; where the relationships were strained when pressure became too much. The persons with dementia who participated in the support groups experienced a great sense of coherence and felt that life was manageable, comprehensible and meaningful. Their healthy partners experienced less comprehensibility and manageability and the adult children more meaningfulness.   The results of the thesis have founded a model for support called PER-model®; Pedagogical, Emotional and Relationship based model of support.

Begonia is one of the most diverse genera on the planet, with a species count approaching 2000 and a distribution across tropics in South America, Africa and South East Asia. The genus has occupied a vast range of niches; many highly variable growth forms can be found across the distribution, and species exhibit very diverse morphologies, even in closely related species. A recent study has revealed a putative whole genome duplication (WGD) event in the evolutionary history of Begonia, which has prompted an interest in investigating the impact gene and genome duplication has had on the diversification of Begonia. To answer questions about phenotypic and ecological diversification in Begonia, two species from South America, B. conchifolia and B. plebeja were chosen as study species based on their close phylogenetic relationship and divergent ecology and phenotype. RNA-seq data for six tissues from B. conchifolia and B. plebeja was generated using the Illumina sequencing platform, and normalised relative expression data was obtained by mapping reads to transcripts predicted from the B. conchifolia draft genome. A bioinformatics pipeline was devised to compare expression profiles across 6 different tissues between duplicated gene pairs shared between B. conchifolia and B. plebeja. Gene duplicate pairs were selected as candidates if they showed divergent expression in one species but not in another. Such duplicate pairs are suggestive of neofunctionalization in one species, providing evidence of a potential basis for phenotypic divergence and diversification between B. conchifolia and B. plebeja. Two duplicate pairs were identified as showing such divergent expression patterns as well as being functionally ecologically relevant, Chalcone Synthase and 3-Ketoacyl-CoA synthase, involved in anthocyanin biosynthesis and wax biosynthesis respectively. Investigation of expression and duplication patterns in both gene families showed the candidate gene families to be strikingly different. While 3-Ketoacyl-CoA synthase showed deeper duplications shared with outgroup taxa, Chalcone Synthase appeared to be expanded very recently, with a burst of duplications specific to the genus. 3-Ketoacyl-CoA synthase showed examples of partitioned expression by tissue for different gene family members, with at least five members of the gene family being highly expressed in one or two tissues only. Chalcone Synthase, however, showed dominance of one basal gene family member. Other Chalcone Synthase members, though expressed at lower levels, showed some evidence of reciprocal silencing in B. plebeja, though this pattern was not observed in B. conchifolia. Further investigation of the Chalcone Synthase gene family revealed lineage specific duplication in B. plebeja, and more extensive differential duplication patterns were found across other South American Begonias. Additionally, signals of positive selection were found in two branches on the Chalcone Synthase phylogeny.

Next Generation 9-1-1 (NG 9-1-1) will revolutionize how the public accesses emergency services and will alter the technological landscape within which existing public safety agencies operate. A lack of systematic methodologies exists for quality control of the required geospatial data layers for NG 9-1-1 systems. The primary objective of this study was to develop and systematize a highly accurate NG 9-1-1 GIS database for Counties of Southern Illinois (CSI). The project goals included mapping relevant geospatial data layers required by and based on NENA standard data formats; conducting data quality control and standardization; and providing standardized spatial datasets for NG 9-1-1 to relevant stakeholders. The approach was developed using a conceptual model for error and uncertainty analysis of the GIS-based NG 9-1-1 system. This included the identification of various sources of input uncertainties often associated with spatial data layers; modeling the accumulation and propagation of errors; analyzing their impact on the quality of the spatial data layers; and correcting the errors. Modeling uncertainty propagation focused on positional errors and was conducted through a simulation procedure. The results showed that the original spatial datasets possessed a large account of uncertainties, especially location errors of railroads and roads. The errors had different sources, including input map errors, the use of different map projection and coordinate systems, a lack of topological structures, etc. In addition, they varied from county to county. From the error propagation simulation, it was also found that the location errors measured as root mean square error (RMSE) fluctuated when the perturbed distance of the ground control points (GCP) was less than 15 m. After that, the RMSE increased as the perturbed distance of GCPs increased. This relationship was significantly linear. In addition, the location errors from railroads were larger than those from roads.

Made available in DSpace on 2018-08-01T21:35:03Z (GMT). No. of bitstreams: 1 tese_12056_Dissertação_Amanda Silva Coutinho.pdf: 1166104 bytes, checksum: f4756c682c195491abc65c33b3ce87fc (MD5) Previous issue date: 2018-02-26 / A osteogênese imperfeita (OI) é uma doença genética rara do tecido conjuntivo, causada por mutações em genes que participam, em geral, da formação óssea. A maioria dos pacientes é portadora de mutações nos genes que codificam o colágeno tipo 1, mas já foram descritas mutações em mais de 17 outros genes causando OI e ainda existe uma busca constante de novos genes na área cientifica. Entre as estratégias de diagnóstico molecular destaca-se a técnica de sequenciamento de nova geração (NGS), que pode sequenciar vários genes presentes em uma plataforma customizada, gerando uma grande quantidade de dados genômicos. Esses dados se tornam preciosas fontes de informação na busca de novos genes relacionados a doenças. O objetivo desta pesquisa foi realizar a busca de novos genes potencialmente causadores de OI por meio de recursos de bioinformática. Foram utilizadas estratégias de filtragem pelo programa Microsoft Office Excel 2013, bem como análises de predição de mutação. Como referência genômica foram utilizados os bancos de dados Ensembl e National Center for Biotechnology Information. Foram selecionados quatro pacientes diagnosticados clinicamente com OI que foram submetidos à técnica de NGS e apresentaram resultados normais para os genes conhecidos. Com o intuito de selecionar uma lista de genes candidatos na plataforma customizada de NGS que estivessem relacionados com os sintomas de OI, foi realizada uma busca de genes no banco de dados Ensembl envolvidos com as vias metabólicas de formação óssea, cartilaginosa ou de colágeno, que identificou 643 genes. A lista de genes candidatos foi comparada com os genes sequenciados dos pacientes, onde foram selecionados 70 genes em comum para análise. Foram realizadas filtragens in silico de forma a selecionar alterações raras na população, preditas como patogênicas e que efetivamente codifiquem uma proteína ou uma molécula de RNA funcional. Os resultados mostraram que o paciente P.1 é portador de uma mutação em heterozigose potencialmente patogênica no gene ALX1. O paciente P.2 apresentou apenas uma alteração no gene COL6A3 que foi predita como polimorfismo. O paciente P.3 apresentou mutações patogênicas em heterozigose nos genes ALPL e FKBP10. No paciente P.4 foram encontradas mutações patogênicas em heterozigose nos genes P3H1 e RYR1. Entre os cinco genes identificados, sabe-se que dois deles, FKBP10 e P3H1, estão relacionados com a OI de herança autossômica recessiva. Também já é descrito que mutações no gene ALPL causam sintomas clínicos semelhantes a OI, podendo confundir o diagnóstico. Assim, o presente estudo identificou dois genes, ALX1 e RYR1, potencialmente causadores de OI. O gene ALX1 tem um papel importante no desenvolvimento craniano e dos membros, pois atua na formação da cartilagem. Já o RYR1 codifica a rianodina, um importante receptor de cálcio nos osteoblastos. Estudos funcionais dos genes identificados são necessários para validar esta hipótese em pesquisas futuras. Os resultados deste trabalho sugerem que ferramentas de bioinformática podem direcionar a busca por novos genes relacionados a doenças genéticas. A caracterização de novas mutações em genes relacionados com OI auxilia no planejamento de estratégias mais eficientes que permitam o diagnóstico molecular da doença e o aconselhamento genético.

Congenital heart defects (CHD) are structural anomalies affecting the heart, are found in 1% of the population and arise during early stages of embryo development. Without surgical and medical interventions, most of the severe CHD cases would not survive after the first year of life. The improved health care for CHD patients has increased CHD prevalence significantly, and it has been estimated that the population of adults with CHD is growing ~5% per year. Understanding the causes of CHD would greatly help improve our knowledge of the pathophysiology, family counseling and planning and possibly prevention and treatment in the future. The aim of my thesis was to identify novel or known CHD genes enriched for rare coding genetic variants in isolated CHD cases and learn about the relative performance of different study designs. High-throughput next generation sequencing (NGS) was used to sequence all coding genes (whole exome) coupled with various analytical pipelines and tools to identify candidate genes in different family-based study designs. Since there is no general consensus on the underlying genetic model of isolated CHD, I developed a suite of software tools to enable different family-based exome analyses of de novo and inherited variants (chapter 2) and then piloted these tools in several gene discovery projects where the mode of inheritance was already known to identify previously described and novel pathogenic genes, before applying them to an analysis of families with two or more siblings with CHD. Based on the tools developed in chapter 2, I designed a two-stage study to investigate isolated parent-offspring trios with Tetralogy of Fallot (chapter 3). In the first stage, I used whole exome sequence data from 30 trios to identify genes with de novo coding variants. This analysis identified six de novo loss-of-function and 13 de novo missense variants. Only one gene showed recurrent de novo mutations in NOTCH1, a well known CHD gene that has mostly been associated with left ventricle outflow tract malformations (LVOT). Besides NOTCH1, the de novo analysis identified several possibly pathogenic novel genes such as ZMYM2 and ARHGAP35, that harbor de novo loss-of-function variants (frameshift and stop gain, respectively). In the second stage of the study, I designed custom baits to capture 122 candidate genes for additional sequencing using NGS in a larger sample size of 250 parent-offspring trios with isolated Tetralogy of Fallot and identified six de novo variants in four genes, half of them are loss-of-function variants. Both of NOTCH1 and its ligand JAG1 harbor two additional de novo mutations (two stop gains in NOTCH1 and one missense and a splice donor in JAG1). The analysis showed a strongly significant over-representation of de novo loss-of-function variants in NOTCH1 (P=3.8 ×10-9). To assess alternative family-based study design in CHD, I combined the analysis from 13 isolated parent-offspring trios with 112 unrelated index cases of isolated atrioventricular septal defects (AVSD) in chapter 4. Initially, I started with a case/control analysis to test the burden of rare missense variants in cases compared with 5,194 ethnically matching controls and identified the gene NR2F2 (Fisher exact test P=7.7×10-07, odds ratio=54). The de novo analysis in the AVSD trios identified two de novo missense variants in the same gene. NR2F2 encodes a pleiotropic developmental transcription factor, and decreased dosage of NR2F2 in mice has been shown to result in abnormal development of atrioventricular septa. The results from luciferase assays show that all coding sequence variants observed in patients significantly alter the activity of NR2F2 target promoters. My work has identified both known and novel CHD genes enriched for rare coding variants using next-generation sequencing data. I was able to show how using single or combined family-based study designs is an effective approach to study the genetic causes of isolated CHD subtypes. Despite the extreme heterogeneity of CHD, combining NGS data with the proper study design has proved to be an effective approach to identify novel and known CHD genes. Future studies with considerably larger sample sizes are required to yield deeper insights into the genetic causes of isolated CHD.

5 ABSTRACT Charles University in Prague Faculty of Pharmacy in Hradec Králové Department of Biochemical Sciences Candidate: Bc. Pavel Votýpka Supervisor: Doc. PharmDr. Martin Beránek, Ph.D. Consultant: Mgr. Nikola Ptáková Title of diploma thesis: Contribution of Next Generation Sequencing for Laboratory Diagnostics The endeavor to sequence the whole human genome lead not only to the knowledge acquisition regarding the human genetic information but as well to the development of new sequencing methods and technologies. In order to keep up with progress in genetic field in many clinical and research laboratories the new massive parallel sequencing equipment is being utilized. On the market are currently established four leading platforms - Illumina, Solid, Ion Torrent and 454 Life Technologies. The process of sequencing analysis can be summarized into three main steps - the sequencing library preparation, sequencing itself, variant calling and data analysis. Each part of the sequencing analysis exhibits certain specifics, we need to count with and as well its pitfalls, we need to avoid or to minimalize their impact on the analysis final result. Recently new methods termed sequencing of the 3rd generation are being developed, enabling sequence of a single DNA molecule to be determined without previous...

This paper presents the design of a graphics subroutine library, MacPac, as a contribution to the development of a standard for future graphics packages. The need for a new graphics standard, and hence the motivation for the development of MacPac, is illustrated through a detailed discussion of existing graphics standards and systems. MacPac is based on a design philosophy developed by Mark Green for the next generation of graphics packages. It addresses the hardware and software ideas of the 80's, incorporating and building upon the valuable and tested ideas of a number of existing graphics systems. The design languages used in the development of MacPac were created by Mark Green for the design of user interfaces. This work examines the effectiveness of these languages in the design of a graphics system. / Thesis / Master of Science (MS)

Pseudorandom generators belong to the primary focus of cryptology. The key to every cipher has to be generated at random, otherwise the security of the whole cipher is threatened. Another point of importance is the pseudorandom generators' close relationship to the stream ciphers. In this work, we first introduce statistical theory related to randomness testing. Then, we describe 8 classical statistical tests. We introduce a concept of next bit testing and derive variants of previous tests. Moreover, with this new battery of tests we examine the randomness of SHA-3 second round candidates and present the results. Also a sensitivity of tests is investigated and several useful transformations are shown. Powered by TCPDF (www.tcpdf.org)