DUCAT (Dutch inventory of invasive Coronary Atherosclerosis Treatments)

Het DUCAT (Dutch inventory of invasive Coronary Atherosclerosis Treatments) project had tot doel te bepalen hoe passend behandelbeslissingen (beleidsbeslissingen) zijn bij patiënten met vernauwing van een of meer kransslagaders rond het hart (coronairlijden). DUCAT bestond uit drie delen: a) bepaling van de passendheid van behandelindicaties door een panel van deskundigen, uitgaande van drie behandelvormen: coronaire-omleidingsoperatie (CABG), 'dotteren' (PTCA), en medicamenteuze of andere niet-invasieve therapie (conservatieve behandeling); b) toetsing van de beleidsbeslissingen in tien hartcentra in Nederland aan de paneloordelen; c) het volgen van de lotgevallen van patiënten met passende en niet-passende beleidsbeslissingen. Dat laatste is beperkt gebleven tot een periode van een jaar. Hoe kan men vaststellen of een indicatie voor een ingreep passend is of niet? Ideaal zou zijn als de wetenschappelijke literatuur geen twijfel toelaat over wat de beste benadering is, maar dat is niet zo. De literatuur biedt voor vele toepassingen van CABG en vooral PTCA onvoldoende zekerheid. Er moet daarom ook een beroep worden gedaan op de ervaring van deskundigen die de indicaties in de praktijk stellen. Een aanpak - maar zeker niet de enige - om die ervaring te laten meetellen is ontwikkeld door het Amerikaanse instituut RAND in samenwerking met de Universiteit van California in Los Angeles (UCLA). De RAND/UCLA methode houdt in dat vele modelpatiënten, en bijpassende indicaties voor behandeling, worden onderscheiden op basis van combinaties van klinische kenmerken. Deskundige leden van een panel geven, op grond van de literatuur en aanvullende medische inzichten, voor elk van die modelpatiënten aan of een behandelindicatie passend, onzeker of niet-passend is. DUCAT is het eerste onderzoek in Nederland waarin deze methode is toegepast. DUCAT kende een theorie- en een praktijkdeel. In het theoriedeel kwamen twee vragen aan de orde. Hoe passend waren volgens het DUCAT-panel de vele indicaties voor behandeling bij coronairlijden en welke klinische en niet-klinische factoren hadden invloed op de oordelen van het panel? Het panel koos bij bijna de helft van de modelpatiënten voor invasieve behandeling en bij ruim een op de vijf voor conservatieve therapie, terwijl het in de rest van de gevallen geen voorkeur had voor de ene of andere benadering. Het panel vond CABG-indicaties vaker passend dan PTCA-indicaties. Het baseerde zich daarbij vooral op medische overwegingen, zoals het actuele klinische beeld en vooral de ernst van de anatomische afwijkingen. Anatomische kenmerken wogen in de oordeelsvorming zwaarder dan andere karakteristieken, zoals medicatie en de uitslag van een inspanningsproef. DUCAT richtte zich op patiënten die in het hartcentrum werden besproken op initiatief van een verwijzend cardioloog waarbij de bespreking leidde tot een beleidsbeslissing. Onze primaire belangstelling ging uit naar 3647 mensen met anatomisch gedefinieerd significant coronairlijden. De desbetreffende DUCAT-populatie bestond in doorsnee uit niet al te jonge mannen en vrouwen van wie velen zich presenteerden met een uitgebreide geschiedenis of actuele uiting van risicofactoren, ziekteverschijnselen, vatafwijkingen en behandelingen, dus met ernstige pathologie. Dat gold niet over de hele linie. Opvallend was het grote aantal mensen met eenvatslijden. Bij verreweg de meeste patiënten met significant coronairlijden opteerden de interventieartsen voor invasieve behandeling (CABG of PTCA); bij 13 procent viel de keus op conservatieve therapie. CABG kr

Newborn screening for pompe disease? A qualitative study exploring professional views

Background: Developments in enzyme replacement therapy have kindled discussions on adding Pompe disease, characterized by progressive muscle weakness and wasting, to neonatal screening. Pompe disease does not fit traditional screening criteria as it is a broad-spectrum phenotype disorder that may occur in lethal form in early infancy or manifest in less severe forms from infancy to late adulthood. Current screening tests cannot differentiate between these forms. Normally, expanding screening is discussed among experts in advisory bodies. While advisory reports usually mention the procedures and outcome of deliberations, little is known of the importance attached to different arguments and the actual weighing processes involved. In this research we aim to explore the views of a wide range of relevant professionals to gain more insight into the process of weighing pros and cons of neonatal screening for Pompe disease, as an example of the dilemmas involved in screening for broad-spectrum phenotype disorders.Methods: We conducted 24 semi-structured interviews with medical, lab, insurance and screening professionals, and executive staff of patient organisations. They were asked about their first reaction to neonatal screening for Pompe disease, after which benefits and harms and requirements for screening were explored in more detail.Results: Advantages included health gain by timely intervention, avoiding a diagnostic quest, having a reproductive choice and gaining more knowledge about the natural course and treatment. Being prepared was mentioned as an advantage for the later manifesting cases. Disadvantages included treatment costs and uncertainties about its effect, the timing of treatment in later manifesting cases, the psychological burden for the patient-in-waiting and the family. Also the downsides of having prior knowledge as well as having to consider a reproductive option were mentioned as disadvantages.Conclusion: When weighing pros and cons, interviewees attach different importance to different arguments, based on personal and professional views. Professionals expect benefits from neonatal screening for Pompe disease, especially for early-onset cases. Some interviewees valued screening in later manifesting cases as well, while stressing the need for adequate support of pre-symptomatic patients and their families. Others considered the psychological burden and uncertainties regarding treatment as reasons not to screen

Stabilizing and passivating halide perovskites with amorphous materials

The search of new materials is an important way to address climate change. Engineered materials make up a large part of the world we live in. They determine how we generate and use energy, and are a large source of greenhouse gas emissions and pollution, both at the stage of fabrication, during usage, and at their end of life. Therefore, we should research materials that can aid in supplying the energy and material demands of the future in an energy and material efficient manner. The material class under investigation in this thesis is halide perovskite. These colorful, semiconducting materials are promising candidates for a wide variety of applications, such as solar cells or lighting. They are brightly luminescent, and the color at which they absorb and emit light can be altered by using different ions as building blocks in their crystalline structure. To balance all great aspects of halide perovskites, they also have significant downsides. They are unstable when they come into contact with common environmental factors such as water or heat, and due to the presence of lead in the most popular halide perovskite compositions, they are toxic. These downsides need to be addressed before perovskites can be widely used.This thesis is aimed to address the instability and improve the material quality, by combining them with amorphous, transparent materials

Stabilizing and passivating halide perovskites with amorphous materials

The search of new materials is an important way to address climate change. Engineered materials make up a large part of the world we live in. They determine how we generate and use energy, and are a large source of greenhouse gas emissions and pollution, both at the stage of fabrication, during usage, and at their end of life. Therefore, we should research materials that can aid in supplying the energy and material demands of the future in an energy and material efficient manner. The material class under investigation in this thesis is halide perovskite. These colorful, semiconducting materials are promising candidates for a wide variety of applications, such as solar cells or lighting. They are brightly luminescent, and the color at which they absorb and emit light can be altered by using different ions as building blocks in their crystalline structure. To balance all great aspects of halide perovskites, they also have significant downsides. They are unstable when they come into contact with common environmental factors such as water or heat, and due to the presence of lead in the most popular halide perovskite compositions, they are toxic. These downsides need to be addressed before perovskites can be widely used.This thesis is aimed to address the instability and improve the material quality, by combining them with amorphous, transparent materials

A prospective cohort study assessing clinical referral management & workforce allocation within a UK regional medical genetics service

Abstract Ensuring patient access to genomic information in the face of increasing demand requires clinicians to develop innovative ways of working. This paper presents the first empirical prospective observational cohort study of UK multi-disciplinary genetic service delivery. It describes and explores collaborative working practices including the utilisation and role of clinical geneticists and non-medical genetic counsellors. Six hundred and fifty new patients referred to a regional genetics service were tracked through 850 clinical contacts until discharge. Referral decisions regarding allocation of lead health professional assigned to the case were monitored, including the use of initial clinical contact guidelines. Significant differences were found in the cases led by genetic counsellors and those led by clinical geneticists. Around a sixth, 16.8% (109/650) of referrals were dealt with by a letter back to the referrer or re-directed to another service provider and 14.8% (80/541) of the remaining patients chose not to schedule an appointment. Of the remaining 461 patients, genetic counsellors were allocated as lead health professional for 46.2% (213/461). A further 61 patients did not attend. Of those who did, 86% (345/400) were discharged after one or two appointments. Genetic counsellors contributed to 95% (784/825) of total patient contacts. They provided 93.7% (395/432) of initial contacts and 26.8% (106/395) of patients were discharged at that point. The information from this study informed a planned service re-design. More research is needed to assess the effectiveness and efficiency of different models of collaborative multi-disciplinary working within genetics services. Keywords (MeSH terms) Genetic Services, Genetic Counseling, Interdisciplinary Communication, Cohort Studies, Delivery of Healthcare, Referral and Consultation