Understanding doctors' knowledge and attitudes concerning genetics and genetic services in South Africa

Includes bibliographical referencesThe burgeoning knowledge in genetics implies that genetic services (including clinical and counselling) will be in increasing demand in the future. This study investigated South African doctors' genetic education, knowledge and attitudes towards genetic services and examined whether these factors affect referral to genetic services. Several studies have indicated that health professionals have poor understanding of genetics and genetic conditions, and this lack of insight extends to knowledge of genetic services and how and when to access them, so that those who would benefit from services might not gain access to them because they are not referred by their doctors (Delikurt et al., 2015). METHODS: A questionnaire was developed based on published research and questions relating to the aims of the project. Forty-one questions were asked, covering referral patterns, demographics, education, knowledge and attitudes to genetic services and genetic counselling. The sample population consisted of 140 GPs attending a family practitioners' conference. Fifty-one responses were received. Results were analysed using descriptive statistics and content analysis of open-ended questions. RESULTS: Results show that 52.9% of general practitioners have referred to genetics in the past, 92.2% think they will refer in future and only 49% know how to access genetic services. Doctors who knew how to access genetic services were more likely to have previously referred patients to these services. Almost half the doctors who had not used genetic services previously felt that genetic services were difficult to access and several attributed this to their lack of knowledge. Doctors who had the most education were more likely to have previously referred patients to genetic services. Doctors indicated that they would like more education on basic genetics, common genetic conditions and genetic services via forums such as conferences, CME activities and online resources. More than half of the doctors rated themselves as "not confident" in their genetic knowledge. Down syndrome was the most commonly seen genetic condition in practice, followed by cystic fibrosis and breast cancer. More than 80% of respondents did not know about direct-to-consumer testing, but 46% thought they might be approached to interpret the results of a direct-to-consumer test in future. Doctors showed poor understanding of the ethics of testing minors for genetic conditions. Genetic services and genetic counselling were seen as indispensable by 66.7% and 74.5% of doctors respectively. CONCLUSIONS: Overall, doctors' knowledge of genetics seems poor and most of them indicate they would like more education on basic genetic concepts, referral guidelines for genetic services and how to access genetic services, which agrees with the amount of education being the most important factor relating to previous referral to genetic services. This study will provide guidance for awareness and education programmes, and inform the future development of genetic services in South Africa

Training South African clinician-scientists: Lessons from the University of Cape Town’s intercalated programme

In 2011, the Faculty of Health Sciences at the University of Cape Town, South Africa (SA), established the Clinician-Scientist Training Programme (UCTCSTP), consisting of intercalated BMedSci Hons/MB ChB and integrated MB ChB/MSc/PhD tracks. We report and reflect on the programme’s performance and challenges. The UCTCSTP has so far enrolled 71 students: 51 have received BMedSci Hons degrees and 4 have received Master’s degrees, while there are 14 BMedSci Hons, 4 MSc and 4 PhD candidates. Graduates have produced significant research outputs, and many remain actively engaged in research. The UCTCSTP has been successful in encouraging a cohort of future clinician-scientists, but should aim to broaden and improve its appeal to address the need to transform and grow the SA clinical academic workforce. As graduates progress with their postgraduate clinical training, they require institutional support and guidance, which may necessitate policy reform

Exploring the determinants of chloride homeostasis in neurons using biophysical models

Fast synaptic inhibition in the nervous system depends on the transmembrane flux of Cl ions via activated GABAA and glycine receptors. As a result, changes to the neuronal driving force for Cl- are thought to play pivotal roles in many physiological and pathological brain processes. Established theories regarding the determinants of Cl- driving force have recently been questioned based on new experimental data. However, it is experimentally difficult to distinguish the respective contributions of the multiple, dynamically interacting mechanisms which may be important in Cl- homeostasis. Here I present biophysical models of Cl- homeostasis using the pump-leak formulation. By means of numerical and novel analytic solutions, I demonstrate that the Na+/K+-ATPase, ion conductances, impermeant anions, electrodiffusion, water fluxes and cation-chloride cotransporters (CCCs) play roles in setting the Cl- driving force. Importantly, I show that while impermeant anions can contribute to setting [Cl- ]i in neurons, they have a negligible effect on the driving force for Cl locally and cell-wide. In contrast, I demonstrate that CCCs are well-suited for modulating Cl- driving force and hence inhibitory signalling in neurons. This prediction is supported by a meta-analysis of multiple experimental studies, which demonstrates a strong correlation between the expression of the cationchloride cotransporter KCC2 and intracellular Cl concentration. My findings reconcile recent experimental findings and provide a framework for understanding the interplay of different chloride regulatory processes in neurons

Analysis of a simulated full-scale mass casualty incident drill regarding process- and outcome quality using automated measured parameters

Schadensereignisse mit Massenanfall von Verletzten (MANV) nehmen weltweit stetig zu. Für lokale Rettungsdienste sind diese Ereignisse hingegen selten. Um Einsatzpersonal trotzdem darauf vorzubereiten und die fundamental veränderten Management- und Versorgungsprinzipien zu trainieren, werden regelmäßig Simulationsübungen durchgeführt. Die Auswertung dieser Übungen erfolgt jedoch meist nur auf Grundlage von subjektiven Einzelmeinungen. Eine detailliertere Auswertung ist durch die Einführung von Performance Indikatoren (PI) möglich geworden, die allerdings bisher nur wenige Teilaspekte der komplexen medizinischen und logistischen Prozesse abbilden können. Methodik Es wurde die Erprobung eines neu entwickelten IT-Unterstützungssystems (A.L.A.R.M.) während einer Simulationsübung im Oktober 2011 ausgewertet. Dazu erfolgte die Aufarbeitung automatisiert gemessener Prozesszeiten und –ergebnisse. Vordefinierte Verletzungsmuster, Vitalparameter und Registrierungsdaten wurden mit den dokumentierten Übungsergebnissen verglichen. Ergebnisse Prozesszeiten wie die Zeitdauer der Sichtungs-, Behandlungs- und Transportprozesse sowie Ergebnisparameter wie Sichtungskategorien, Therapiemaßnahmen und Transportziele konnten umfänglich erfasst und ausgewertet werden. Durch den Vergleich mit zuvor festgelegten Soll-Ergebnissen war es möglich, Ergebnisse quantitativ und qualitativ auszuwerten. Schlussfolgerung Durch die Nutzung eines elektronischen Unterstützungssystems lassen sich automatisiert PI messen und auswerten. Dadurch können detailliert Prozesszeiten und –ergebnisse transparent aufgezeigt und evaluiert werden. So gewonnene Erkenntnisse können zur Überprüfung der aktuellen Konzepte und durch Feedback an das Einsatzpersonal zur strukturierten Übungsauswertung eingesetzt werden.Occurrence of events involving mass casualty incidents (MCI) is frequently increasing all over the world. In contrast these events are rarely experienced by a local rescue service. To prepare responding staff for these occasions and train the fundamentally different management and treatment approach full- scale-simulation drills are conducted regularly. Evaluation of these drills is usually based on personal perceptions and opinion. A more detailed analysis is now possible after the introduction of performance indicators (PI). However PI so far allow only to represent certain aspects of complex medical and logistical processes. Methods The testing of a recently developed IT-support system (A.L.A.R.M.) in a simulation drill in October 2011 was analyzed. Therefore automated measured process periods and outcomes were reviewed. Predefined injury patterns, vital parameters and registration data were compared to the documented drill results. Results Process times like periods of sorting, treatment and transport processes as well as outcome parameters like sorting categories, treatment procedures and transport destinations could be measured and reviewed comprehensively. By comparison of predefined outcome levels it was possible to evaluate outcome quantitatively and qualitatively. Conclusion The use of an IT-support system enables automated measurement and reviewing of PI. Thus the transparent demonstration and analysis of detailed process periods and outcomes can be realized. Knowledge which is obtained that way can be applied to verify current concepts and can be used for giving feedback and a structured drill report to the personnel on scene

Überprüfung der perioperativen Response und Evaluation einer standardisierten Optimierung der antithrombozytären Therapie bei gefäßchirurgischen Patienten

Inhalt: Trotz der Einnahme von Thrombozytenaggregationshemmern gibt es eine relativ hohe Prävalenz an inadäquat gehemmten Patienten. Das Ziel war die Datenlage bezüglich der Prävalenz bei gefäßchirurgischen Patienten zu verbessern, eine Veränderung der Response aufzudecken und eine wirksame Therapie dieser Low-Response zu evaluieren. Zur Beurteilung der Wirkung von ASS und Clopidogrel diente die Impedanz-Aggregometrie mittels Multiplate. In der prospektiven Studie mit 176 Patienten mit einer pAVK/Carotis-Stenose wurden 39 leitliniengerechte Therapieanpassungen komplikationslos durchgeführt. Zur Identifizierung von möglichen Einflussgrößen der Low-Responder dienten demografische Daten, Begleitmedikationen, Laborparameter und die Co-Morbiditäten. Hierbei wurden unabhängige Risikofaktoren für ASS identifiziert

Untersuchung eines Methanolreformerkonzepts unter den besonderen Bedingungen der Dynamik und Langzeitstabilität beim Einsatz im Brennstoffzellen-Pkw

All over the world, research and development programs concentrate on new propulsion systems for passenger cars with PEM-Fuel Cell (Proton Exchange Membrane) systems, hydrogen production unit on-board, and electric motor. The objectives of this thesis are the investigation of the dynamic methanol-reformer behavior and simulation calculations of the fuel-cell powered propulsion system. The methanol reformer as a key component in terms of the dynamics of the whole system, the start-up conditions and the stability of the reforming catalysts are experimentally investigated in great detail. The experimental results are then integrated and analysed within the framework of the simulation calculations. In addition, further system components such as gas treatment, catalytic burner, fuel cell and electric motor are simulated as well. By varying the length of the catalyst bed, it could be shown that when starting the operation, the methanol reforming process occurs within the first centimeters of the catalyst bed. Due to the endothermic reaction, there is a sharp temperature drop of about 50 K within the first catalyst layer. The specific hydrogen production within the first 10 centimeters of the catalyst bed is relatively high (9,6 Nm31(h kgr,)). The methanol conversion is about 45 %. With increasing operation time, the most active reaction zone moves along the catalyst bed. The decrease in catalyst activity with time is almost linear (deactivation rate). Cycled start-up andshut-down processes of the methanol/steam reformer do not harm the catalyst. The catalyst keeps its activity under condensation conditions for methanol and water.The simulation emphasizes the connection between the power requirement at the wheel and the methanol supply to the reformer unit. Because of the system start-up time and the limited reformer dynamics, a hydrogen storage is integrated into the whole fuel-cell powered propulsion system. Characteristic system parameters are described for particular driving cycles. Calculations for the New European Driving Cycle show an equivalent gasoline consumption of 3,8 l/100 kin for a test weight of 1480 kg of a passenger car and an overall efficiency of about 31 %. The results of the methanol reformer investigation as well as the simulation calculations represent not only the progress required in terms of comparability with conventional powertrains, but also a high potential of fuel-cell powered drives in terms of specific energyconsumption data

Der heilige Kreuzweg zu Jerusalem und die Kreuzweg-Andacht

von F. H. Düsterwal