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No description available.

Thesis (MSc)--University of Stellenbosch, 2004. / ENGLISH ABSTRACT: Progressive familial heart block type II (PFHBII) is an inherited cardiac conduction disorder of unknown aetiology, which has been described in a South African family. The disorder was mapped to a 2.9 centimorgan (cM) locus on chromosome 1q32.2-32.3. Clinically, PFHBII manifests cardiac conduction aberrations, that progress to a disease of the heart muscle, dilated cardiomyopathy (DCM). DCM is also reported as an end phase in hypertrophic cardiomyopathy (HCM), another heart muscle disorder. These cardiomyopathies are genetically heterogeneous with some of the genes reported as causes of both disorders. Therefore, genes identified as causes of HCM and DCM were considered plausible candidates for PFHBII mutation analysis. Additionally, this study provided an opportunity to assess potential modifiers of HCM. HCM exhibits marked phenotypic variability, observed within and between families harbouring the same causative mutation. Genes within the PFHBII locus were selected for PCR-SSCP analysis based on homology to genes previously reported as causing conduction system disorders associated with arrhythmias, DCM and/or HCM. Results were confirmed by direct sequencing and association between the detected variants and HCM parameters was assessed using a quantitative transmission disequilibrium test (QTDT). Eleven plausible candidate genes were selected within the PFHBII locus and two of the genes, PFKFB2 and ATF3, that encode for 6-phosphofructo-2,6-bisphosphatase (PFK-2/FBPase-2) and activating transcription factor 3 (ATF3), respectively, were analysed for PFHBII-causing and HCM main locus and/or HCM modifying mutations. Mutation analysis of PFKFB2 and ATF3 in the PFHBII family revealed no PFHBII causal mutation. PFKFB2 and ATF3 were later localised outside the PFHBII locus, and, therefore, were excluded as PFHBII plausible candidates. Further analysis of the two genes for HCM main locus and/or HCM modifying mutations in the HCM panel identified several sequence variants. QTDT analysis of these variants showed no significant association. Completion of the Human Genome Project (HGP) and annotation of new genes within the PFHBII locus allowed the identification of more PFHBII plausible candidate genes. Identification of causal mutations in plausible PFHBII candidate genes will allow molecular diagnosis of PFHBII pathophysiology. Furthermore, identification of both HCM-modifying and HCM-causing genes will give insight into the phenotypic variability noted among South African HCM-affected individuals and into the molecular cause of the disease among individuals with HCM-like clinical features. / AFRIKAANSE OPSOMMING: Progressiewe familiële hartblok tipe II (PFHBII) is ʼn oorgeërfde hart geleidingsiekte van onbekende etiologie wat in ʼn Suid-Afrikaanse familie beskryf is. Die siekte is ʼn 2.9 sentimorgan (cM) lokus op chromosoom 1q32.2-32.3 gekarteer. Klinies presenteer PFHBII met geleidingsfwykings wat uitloop op gedilateerde kardiomiopatie (DCM). DCM word ook gerapporteer as ʼn endfase in hipertrofiese kardiomiopatie (HCM), ʼn ander hartspiersiekte. Die kardiomiopatieë is geneties heterogeen, met ʼn aantal gene wat as oorsaak van altwee siektetoestande gerapporteer word. Daarom is alle gene wat geïdentifiseer is as oorsake van DCM en HCM, as moontlike kandidaatgene vir PFHBII mutasieanaliese beskou. Bykomend het hierdie studie die geleentheid gebied om potensiële modifiseerders van HCM te assesseer. HCM toon beduidende fenotipiese variasie binne en tussen families wat dieselfde siekteveroorsakende mutasie het. Gene binne die PFHBII-lokus is geselekteer vir PCR-SSCP-analiese gebaseer op homologie met gene wat voorheen gerapporteer is om betrokke te wees by geleidingsiesisteemsiektes, geassosieerde arritmieë, DCM en/of HCM. Resultate is bevestig deur volgordebepaling. Assosiasie tusssen ontdekte variante en die siekteparameter is bepaal met ʼn kwantitatiewe transmissie disekwilibrium toets (QTDT). Elf moontlike kandidaatgene in die PFHBII-lokus is geselekteer en twee van die gene, PFKFB2 en ATF3, wat kodeer vir 6-fosfofrukto-2,6-bifosfatase (PFK-2/FBPase-2) en aktiveringstranskripsiefaktor 3 (ATF3) respektiewelik, is vir PFHBII-oorsakende en HCMhooflokus en/of HCM-modifiseerende mutasies ondersoek. Mutasie-analiese van PFKFB2 en ATF3 in die PFHBII-familie het nie ʼn siekteveroorsakende mutasie onthul/uitgelig nie. PFKFB2 en ATF3 is later buite die PFHBII-lokus geplaas en dus ook as moontlike PFHBII-kandidate uitgesluit. Verdere ondersoek van díe twee gene vir HCM-hooflokus en/of HCM-modifiserende mutasies in die HCM-paneel het ʼn aantal volgorde variante geïdentifiseer. QTDT-analiese van die variante het geen beduidende assosiasies aangetoon nie. Voltooiing van die Menslike Genoom Projek (HGP) en annotasie van nuwe gene in die PFHBIIlokus het tot die identifikasie van verdere moontlike PFHBII-kandidaatgene gelei. Identifikase van siekte-veroorsaakende mutasies in die moontlike PFHBII-kandidaatgene sal die molekulêre diagnose van PFHBII toelaat en insig in die patofisiologie van die siekte gee. Verder, identifikasie van beide HCM-veroorsakende of HCM-modifiserende gene kan insig gee in die fenotipiese varieerbaarheid wat onder Suid-Afrikaanse HCM-geaffekteerde individue waargeneem word en ook in die molekulêre oorsake van die siekte in individue met HCMsoortige kliniese kenmerke.

Thesis (MCur)--Stellenbosch University, 2015. / ENGLISH ABSTRACT: Background: Coronary artery disease is a form of cardiovascular disease (CVD) which manifests itself in three ways: angina pectoris, acute coronary syndrome and cardiac death. Thirty-three people die daily of a myocardial infarction (cardiac death) and 7.5 million deaths annually are caused by CVD (51% from strokes and 45% from coronary artery disease) worldwide. Globally, the CVD death rate is a mere 4% compared to South Africa which has a 42% death rate. It is predicted that by the year 2030 there will be 25 million deaths annually from CVD, mainly in the form of strokes and heart disease. The WHO compared the death rates of high-income countries to those of low- and middle-income countries, like South Africa, and the results show that CVD deaths are declining in high-income countries but rapidly increasing in low- and middle-income countries. Although there are several risk prediction tools in use worldwide, to predict ischemic risk, South Africa does not use any of these tools. Current practice in South Africa to diagnose acute coronary syndrome is the use of a physical examination, ECG changes and positive serum cardiac maker levels. Internationally the same practice is used to diagnose acute coronary syndrome but risk assessment tools are used additionally to this practise because of limitations of the ECG and serum cardiac markers when it comes to NSTE-ACS. Objective: The aim of this study was to systematically appraise evidence on the accuracy of acute coronary syndrome risk prediction tools in adults. Methods: An extensive literature search of studies published in English was undertaken. Electronic databases searched were Cochrane Library, MEDLINE, Embase and CINAHL. Other sources were also searched, and cross-sectional studies, cohort studies and randomised controlled trials were reviewed. All articles were screened for methodological quality by two reviewers independently with the QUADAS-2 tool which is a standardised instrument. Data was extracted using an adapted Cochrane data extraction tool. Data was entered in Review Manager 5.2 software for analysis. Sensitivity and specificity was calculated for each risk score and an SROC curve was created. This curve was used to evaluate and compare the prediction accuracy of each test. Results: A total of five studies met the inclusion criteria of this review. Two HEART studies and three GRACE studies were included. In all, 9 092 patients participated in the selected studies. Estimates of sensitivity for the HEART risks score (two studies, 3268 participants) were 0,51 (95% CI 0,46 to 0,56) and 0,68 (95% CI 0,60 to 0,75); specificity for the HEART risks score was 0,90 (95% CI 0,88 to 0,91) and 0,92 (95% CI 0,90 to 0,94). Estimates of sensitivity for the GRACE risk score (three studies, 5824 participants) were 0,03 (95% CI0,01 to 0,05); 0,20 (95% CI 0,14 to 0,29) and 0,79 (95% CI 0,58 to 0,93). The specificity was 1,00 (95% CI 0,99 to 1,00); 0,97 (95% CI 0,95 to 0,98) and 0,78 (95% CI 0,73 to 0,82). On the SROC curve analysis, there was a trend for the GRACE risk score to perform better than the HEART risk score in predicting acute coronary syndrome in adults. Conclusion: Both risk scores showed that they had value in accurately predicting the presence of acute coronary syndrome in adults. The GRACE showed a positive trend towards better prediction ability than the HEART risk score. / AFRIKAANSE OPSOMMING: Agtergrond: Koronêre bloedvatsiekte is ‘n vorm van kardiovaskulêre siekte. Koronêre hartsiekte manifesteer in drie maniere: angina pectoris, akute koronêre sindroom en hartdood. Drie-en-dertig mense sterf daagliks aan ‘n miokardiale infarksie (hartdood). Daar is 7,5 miljoen sterftes jaarliks as gevolg van kardiovaskulêre siektes (51% deur beroertes en 45% as gevolg van koronêre hartsiektes) wêreldwyd. Globaal is die sterfte syfer as gevolg van koronêre vaskulêre siekte net 4% in vergelyking met Suid Afrika, wat ‘n 42% sterfte syfer het. Dit word voorspel dat teen die jaar 2030 daar 25 miljoen sterfgevalle jaarliks sal wees, meestal toegeskryf aan kardiovaskulêre siektes. Die hoof oorsaak van sterfgevalle sal toegeskryf word aan beroertes en hart siektes. Die WHO het die sterf gevalle van hoeinkoms lande vergelyk met die van lae- en middel-inkoms lande, soos Suid Afrika, en die resultate het bewys dat sterf gevalle as gevolg van kardiovaskulêre siekte is besig om te daal in hoe-inkoms lande maar dit is besig om skerp te styg in lae- en middel-inkoms lande. Daar is verskeie risiko-voorspelling instrumente wat wêreldwyd gebruik word om isgemiese risiko te voorspel, maar Suid Afrika gebruik geen van die risiko-voorspelling instrumente nie. Huidiglik word akute koronêre sindroom gediagnoseer met die gebruik van n fisiese ondersoek, EKG verandering en positiewe serum kardiale merkers. Internationaal word die selfde gebruik maar risiko-voorspelling instrumente word aditioneel by gebruik omdat daar limitasies is met EKG en serum kardiale merkers as dit by NSTE-ACS kom. Doelwit: Die doel van hierdie sisematiese literatuuroorsig was om stelselmatig die bewyse te evalueer oor die akkuraatheid van akute koronêre sindroom risiko-voorspelling instrumente vir volwassenes. Metodes: 'n Uitgebreide literatuursoektog van studies wat in Engels gepubliseer is was onderneem. Cochrane biblioteek, MEDLINE, Embase en CINAHL databases was deursoek. Ander bronne is ook deursoek. Die tiepe studies ingesluit was deurnsee-studies, kohortstudies en verewekansigde gekontroleerde studies. Alle artikels is onafhanklik vir die metodologiese kwaliteit gekeur deur twee beoordeelaars met die gebruik van die QUADAS-2 instrument, ‘n gestandaardiseerde instrument. ‘n Aangepaste Cochrane data instrument is gebruik om data te onttrek. Data is opgeneem in Review Manager 5.2 sagteware vir ontleding. Sensitiwiteit en spesifisiteit is bereken vir elke risiko instrument en ‘n SROC kurwe is geskep. Die SROC kurwe is gebruik om die akkuraatheid van voorspelling van elke instrument te evalueer en te toets. Resultate: Twee HEART studies en drie GRACE studies is ingesluit. In total was daar 9 092 patiente wat deelgeneeem het in die gekose studies. Skattings van sensitiwiteit vir die HEART risiko instrument (twee studies, 3268 deelnemers) was 0,51 (95% CI 0,47 to 0,56) en 0,68 (95% CI 0,60 to 0,75) spesifisiteit vir die HEART risiko instrument was 0,89 (95% CI 0,88 to 0,91) en 0,92 (95% CI 0,90 to 0,94). Skattings van sensitiwiteit vir die GRACE risiko instrument (drie studies, 5824 deelnemers) was 0,28 (95% CI 0,13 to 0,53); 0,20 (95% CI 0,14 to 0,29) en 0,79 (95% CI 0,58 to 0,93). Die spesifisiteit vir die GRACE risiko instrument was 0,97 (95% CI 0,95 to 0,99); 0,97 (95% CI 0,95 to 0,98) en 0,78 (95% CI 0,73 to 0,82). Met die SROC kurwe ontleding was daar ‘n tendens vir die GRACE risiko instrument om beter te vaar as die HEART risiko instrument in die voorspelling van akute koronêre sindroom in volwassenes. Gevolgtrekking: Altwee risiko instrumente toon aan dat albei instrumente van waarde is. Albei het die vermoë om die teenwoordigheid van akute koronêre sindroom in volwassenes te voorspel. Die GRACE toon ‘n positiewe tendens teenoor beter voorspelling vermoë as die HEART risiko instrument.

The aims of the present study were threefold: firstly, to further the understanding of the psychological response to heart disease; secondly, to consider the differences in the ways in which doctors and patients perceive heart disease; and thirdly, to consider how the doctor, patient, and condition interact within the illness process over a period of time. The nature of coronary heart disease (CHD) was considered, and the influence of psychological variables in CHD was discussed. Psychological factors in illness were examined, with particular emphasis on health beliefs, illness behaviour, compliance, and the doctor-patient relationship. Conclusions were drawn that to understand the illness process in heart disease, doctor, patient, and condition must be considered together, in an interactional framework. Two pilot studies were performed. The first study found that heart patients' health beliefs differed from a normal population. The second pilot study, with raised cholesterol patients, suggested the existence of five major components of the illness process: illness perception, illness effect, health orientation, doctor-patient relationship, and compliance. The main study considered groups of heart and cholesterol patients (experimental groups) and a group of general outpatients (control group), over a four-to-six month period. Patients were interviewed and given a questionnaire concerning their feelings regarding their condition. Doctors and judges also completed similar questionnaires. Results indicate that cholesterol patients rate superior coping to the other groups, and both experimental groups were higher than controls with regard to patient understanding, responsibility for health, and communication with doctor. Findings suggests alterations should be made in current conceptualization of illness behaviour. and that patient and doctor assessment of condition severity were found to be unrelated to illness behaviour. Doctor and patient perception of patient behaviour were found to be discrepant. Modifications in the treatment of heart and cholesterol patients are suggested.

Αντικείμενο της παρούσας διπλωματικής εργασίας είναι η ανάπτυξη εφαρμογής για λειτουργικό σύστημα Android, τη μέτρηση του καρδιακού ρυθμού. Αρχικά μελετάται ο καρδιακός ρυθμός σαν λειτουργία του σώματος μας, παθήσεις που οφείλονται ή μπορούν να ανιχνευτούν από αυτόν. Γίνεται αναφορά στις φορητές ηλεκτρονικές συσκευές για τη μέτρηση και τις διαφορετικές τεχνολογίες που χρησιμοποιούν προκειμένου να την πραγματοποιήσουν. Τελικά, αναλύεται η τεχνική της φωτοπληθυσμογραφίας. Έπειτα παρουσιάζεται το λειτουργικό σύστημα Android, αναλύεται η αρχιτεκτονική του καθώς και η αρχιτεκτονική των εφαρμογών που αναπτύσσονται για αυτό το λογισμικό. Παρουσιάζεται η πλατφόρμα ανάπτυξης Eclipse καθώς και οι επιπρόσθετες δυνατότητες που αποκτά με την προσθήκη του πακέτου Android SDK. Τέλος παρουσιάζεται βασικό παράδειγμα εφαρμογής ώστε να μπορεί ο αναγνώστης να εξοικειωθεί με βασικές δομές που χρησιμοποιήθηκαν για την ανάπτυξη της παρούσας εφαρμογής. Παρουσιάζεται επίσης η λογική της εφαρμογής που αναπτύχθηκε. Βασικές αρχές για την ψηφιακή επεξεργασία σήματος όπως αυτές χρησιμοποιήθηκαν για την επεξεργασία του σήματος του καρδιακού ρυθμού αναλύεται αυτόματα από την εφαρμογή και τέλος προβάλλεται ο μηχανισμός εξαγωγής του τελικού συμπεράσματος, δηλαδή ο τρόπος με τον οποίο η εφαρμογή πραγματοποιεί την τελική της μέτρηση. / The subject of the thesis under consideration is the development of an application on the operating system Android,for the heart rate measurement. Initially I studied the heart rate as a function of the human body ailments caused or potentially detected by it.I made reference to any portable electronic devices to measure as well as various technologies used in order to accomplish it. At the last part I analyze the technique of photoplethysmography. I later present the operating system Android and I analyze the general logic and the architecture of the applications developed for this software.I presented the Eclipse development platform and the additional possibilities obtained by adding the packet Android SDK. Finally, I demonstated an example of a user friendly application with basic structures used in the development of this application. I also presented the application logic developed. Basic principles of digital signal processing such as those used for signal processing of heart rate are analyzed automatically by the mechanism and finally the final conclusion, that is the way the application performs the final measurement,is exported.

published_or_final_version / Physiology / Doctoral / Doctor of Philosophy

published_or_final_version / Sports Science / Master / Master of Science in Sports Science

published_or_final_version / abstract / Diagnostic Radiology / Master / Master of Philosophy

published_or_final_version / Electrical and Electronic Engineering / Doctoral / Doctor of Philosophy