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Booij S.J.,Leiden University | Tibben A.,Center for Human and Clinical Genetics | Engberts D.P.,LUMC | Marinus J.,Leiden University | Roos R.A.C.,Leiden University
Journal of Neurology | Year: 2014

The aim of this study was to investigate the presence of thoughts or wishes for the end of life in patients with Huntington’s disease (HD) or identified gene carriers (further mentioned together as patients). A custom-made questionnaire, based on previous qualitative research, was sent out to 242 patients with HD and identified gene carriers. Presence of wishes was investigated and correlated to demographic and clinical characteristics. A total of 134 patients (55 %) returned the questionnaire. 101 respondents (75 %) reported to have some kind of thoughts or wishes for the end of life. For 15 respondents (11 %) these thoughts concerned care; 86 respondents (64 %) reported to have also thoughts about euthanasia or physician-assisted suicide (PAS). The presence of any thoughts about the end of life was significantly related to being familiar with HD in the family, but not related to any other demographic or clinical variable. Participants with thoughts specifically about euthanasia or PAS were of higher education and in earlier stages of the disease than participants without such thoughts. Thoughts or wishes for the end of life are present amongst patients with HD. These thoughts include euthanasia or PAS in a majority of the respondents. It is suggested that prudential addressing of these issues may enhance the doctor–patient relationship. © 2014, Springer-Verlag Berlin Heidelberg.


Booij S.J.,Leiden University | Rodig V.,Leiden University | Engberts D.P.,LUMC | Tibben A.,Center for Human and Clinical Genetics | Roos R.A.,Leiden University
Journal of Huntington's disease | Year: 2013

In the literature there are few reports on euthanasia or physician-assisted suicide (PAS) or other matters concerning the end-of-life in patients with Huntington's disease (HD), although clinical experience suggests these issues do arise. To obtain in-depth information about patients' thoughts on and attitudes to euthanasia, PAS and the use of advance directives in HD. To assess the difficulties patients encounter when thinking about end-of-life wishes. Semi-structured in-depth interviews with 14 unselected HD patients from our out-patient clinic based on a topic list. Qualitative analysis of the interviews based on grounded theory. We identified three patterns in our group of respondents: patients with distinct wishes, with general wishes and ideas and patients with no wishes. The most important frame of reference regarding end-of-life wishes in HD patients or known gene carriers is the experience with an affected parent. Family is important when thinking about the end of life and advance directives, even more so than the patient's physician. Knowledge about the (requirements of) law is limited. The majority of interviewees expressed some kind of wish regarding end of life, probably more than they had revealed to their physician, but were sometimes hesitant to discuss it. Knowledge on how to deal with wishes, advance directives and response shift is limited. In general, patients underestimate the requirement for sound professional support when considering euthanasia or PAS and the value of an advance directive. In an attempt to improve knowledge and communication about end-of-life issues, physicians should ask the patient directly about their wishes.


Booij S.J.,LUMC | Engberts D.P.,LUMC | Rodig V.,LUMC | Tibben A.,Center for Human and Clinical Genetics | Roos R.A.C,LUMC
Journal of Medical Ethics | Year: 2013

Euthanasia and physician-assisted suicide (PAS) by request and/or based on an advance directive are legal in The Netherlands under strict conditions, thus providing options for patients with Huntington's disease (HD) and other neurodegenerative diseases to stay in control and choose their end of life. HD is an inherited progressive disease characterised by chorea and hypokinesia, psychiatric symptoms and dementia. From a qualitative study based on interviews with 15 physicians experienced in treating HD, several ethical issues emerged. Consideration of these aspects leads to a discussion about the professional role of a physician in relation to the personal autonomy of a patient. Such a discussion can raise awareness that talking about end-of-life wishes with an HD patient is part of the legal, professional and moral responsibility of the physician, and that a letter of intent on behalf of the physician can improve active participation in the process. Discussion of these issues can help to advance the debate on euthanasia and PAS in HD and other neurodegenerative diseases.


Balgobind B.V.,Erasmus University Rotterdam | van den Heuvel-Eibrink M.M.,Erasmus University Rotterdam | De Menezes R.X.,Erasmus University Rotterdam | De Menezes R.X.,Center for Human and Clinical Genetics | And 17 more authors.
Haematologica | Year: 2011

Background Pediatric acute myeloid leukemia is a heterogeneous disease characterized by non-random genetic aberrations related to outcome. The genetic subtype is currently detected by different diagnostic procedures which differ in success rate and/or specificity. Design and Methods We examined the potential of gene expression profiles to classify pediatric acute myeloid leukemia. Gene expression microarray data of 237 children with acute myeloid leukemia were collected and a double-loop cross validation approach was used to generate a subtype-predictive gene expression profile in the discovery cohort (n=157) which was then tested for its true predictive value in the independent validation cohort (n=80). The classifier consisted of 75 probe sets, representing the top 15 discriminating probe sets for MLL-rearranged, t(8;21)(q22;q22), inv(16)(p13q22), t(15;17)(q21;q22) and t(7;12)(q36;p13)-positive acute myeloid leukemia. Results These cytogenetic subtypes represent approximately 40% of cases of pediatric acute myeloid leukemia and were predicted with 92% and 99% accuracy in the discovery and independent validation cohort, respectively. However, for NPM1, CEBPA, MLL(-PTD), FLT3(-ITD), KIT, PTPN11 and N/K-RAS gene expression signatures had limited predictive value. This may be caused by a limited frequency of these mutations and by underlying cytogenetics. This latter is exemplified by the fact that different gene expression signatures were discovered for FLT3-ITD in patients with normal cytogenetics and in those with t(15;17)(q21;q22)-positive acute myeloid leukemia, which pointed to HOXB-upregulation being specific for FLT3-ITD+ cytogenetically normal acute myeloid leukemia. Conclusions In conclusion, gene expression profiling correctly predicted the most prevalent cytogenetic subtypes of pediatric acute myeloid leukemia with high accuracy. In clinical practice, this gene expression signature may replace multiple diagnostic tests for approximately 40% of pediatric acute myeloid leukemia cases whereas only for the remaining cases (predicted as 'acute myeloid leukemia-other') are additional tests indicated. Moreover, the discriminative genes reveal new insights into the biology of acute myeloid leukemia subtypes that warrants followup as potential targets for new therapies.© Ferrata Storti Foundation.


Booij S.J.,Leiden University | Tibben A.,Center for Human and Clinical Genetics | Engberts D.P.,LUMC | Marinus J.,Leiden University | Roos R.A.C.,Leiden University
Journal of Neurology | Year: 2014

The aim of this study was to investigate the presence of thoughts or wishes for the end of life in patients with Huntington's disease (HD) or identified gene carriers (further mentioned together as patients). A custom-made questionnaire, based on previous qualitative research, was sent out to 242 patients with HD and identified gene carriers. Presence of wishes was investigated and correlated to demographic and clinical characteristics. A total of 134 patients (55 %) returned the questionnaire. 101 respondents (75 %) reported to have some kind of thoughts or wishes for the end of life. For 15 respondents (11 %) these thoughts concerned care; 86 respondents (64 %) reported to have also thoughts about euthanasia or physician-assisted suicide (PAS). The presence of any thoughts about the end of life was significantly related to being familiar with HD in the family, but not related to any other demographic or clinical variable. Participants with thoughts specifically about euthanasia or PAS were of higher education and in earlier stages of the disease than participants without such thoughts. Thoughts or wishes for the end of life are present amongst patients with HD. These thoughts include euthanasia or PAS in a majority of the respondents. It is suggested that prudential addressing of these issues may enhance the doctor-patient relationship. © 2014 Springer-Verlag Berlin Heidelberg.

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