Discrete choice experiments (DCEs) allow systematic assessment of preferences by asking respondents to choose between scenarios. We conducted a labelled discrete choice experiment with realistic choices to investigate patients
Michelle E Kruijshaar [email protected] 2 5 Marie-Louise Essink-Bot [email protected] 2 4 Bas Donkers [email protected] 1 Caspar WN Looman [email protected] 2 Peter D
in:PubMed • Google Scholar Search for Michelle E Kruijshaar in:PubMed • Google Scholar Search for Heinke Kunst in:PubMed • Google Scholar Search for Gerrit Woltmann in:PubMed • Google Scholar Search for
Background Tuberculosis (TB) has increased within the UK and, in response, targets for TB control have been set and interventions recommended. The question was whether these had been implemented and, if so, had they been effective in reducing TB cases. Methods Epidemiological data were obtained from enhanced surveillance and clinics. Primary care trusts or TB clinics with an...
, Michelle E Kruijshaar & Ibrahim AbubakarDepartment of Chest Medicine, Royal Blackburn Hospital, Haslingden Road, Blackburn, Lancashire, BB2 3HH, UKL Peter OrmerodHealth Protection Agency Centre for ... Moore in:PubMed • Google Scholar Search for Michelle E Kruijshaar in:PubMed • Google Scholar Search for L Peter Ormerod in:PubMed • Google Scholar Search for Francis Drobniewski in:PubMed • Google
Jonathan E Moore 0 Michelle E Kruijshaar 0 L Peter Ormerod Francis Drobniewski Ibrahim Abubakar 0 0 Health Protection Agency Centre for Infections, Respiratory Diseases Department - Tuberculosis
Pompe disease is a progressive metabolic myopathy. Involvement of respiratory muscles leads to progressive pulmonary dysfunction, particularly in supine position. Diaphragmatic weakness is considered to be the most important component. Standard spirometry is to some extent indicative but provides too little insight into diaphragmatic dynamics. We used lung MRI to study...
Background Pompe disease is a progressive metabolic myopathy. Involvement of respiratory muscles leads to progressive pulmonary dysfunction, particularly in supine position. Diaphragmatic weakness is considered to be the most important component. Standard spirometry is to some extent indicative but provides too little insight into diaphragmatic dynamics. We used lung MRI to study...
Biotinidase deficiency is a rare inherited metabolic disorder that can cause severe neurological symptoms. To prevent severe clinical presentations, it was included in the Dutch neonatal screening programme in 2007. Since then the number of cases detected has been high. This study set out to describe the incidence of the disease, the clinical and demographic characteristics of...
, Esther Kuperus, Marianne Hoogeveen-Westerveld, Marian A. Kroos, Stephan C.A. Wens, Merel Stok, Nadine A.M.E. van der Beek, Michelle E. Kruijshaar, Pieter A. van Doorn, Ans T. van der Ploeg & W.W.M. Pim ... Pediatrics, Erasmus MC University Medical Center, Rotterdam, The NetherlandsMerel Stok, Michelle E. Kruijshaar, Ans T. van der Ploeg & W.W.M. Pim PijnappelDepartment of Biostatistics, Erasmus MC University
Policy and Management, Institute for Medical Technology Assessment, Erasmus University Rotterdam , Rotterdam , The Netherlands 1 Michelle E. Kruijshaar 2 Department of Biostatistics, Erasmus MC University
Vascular abnormalities and glycogen accumulation in vascular smooth muscle fibres have been described in Pompe disease. Using carotid-femoral pulse wave velocity (cfPWV), the gold standard methodology for determining aortic stiffness, we studied whether aortic stiffness is increased in patients with Pompe disease. Eighty-four adult Pompe patients and 179 age- and gender-matched...
Center, Rotterdam, The Netherlands Meng Yuan, Michelle E. Kruijshaar, Aglina Lika & Ans T. van der Ploeg Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC University ... -Rosalina Andrinopoulou View author publications You can also search for this author in PubMed Google Scholar Michelle E. Kruijshaar View author publications You can also search for this author in
Pompe disease is a rare metabolic myopathy. In adult patients, progressive weakness of limb-girdle and respiratory muscles often leads to wheelchair and respirator dependency. Clinical studies have shown enzyme replacement therapy (ERT) to positively affect motor and respiratory outcomes. Here we investigate whether ERT reduces patients’ risk of needing a wheelchair or respirator...
Pompe disease is a rare, progressive, metabolic disease, and the first treatable inheritable muscle disorder. Enzyme replacement therapy (ERT) with alglucosidase alfa is disease specific and the only medicinal product authorized for the treatment of Pompe disease. Costs of ERT are very high as for most orphan drugs. This study investigates the cost-effectiveness of ERT compared...
Pompe disease is a proximal myopathy. We investigated whether exercise training is a safe and useful adjuvant therapy for adult Pompe patients, receiving enzyme replacement therapy. Training comprised 36 sessions of standardized aerobic, resistance and core stability exercises over 12 weeks. Before and after, the primary outcome measures safety, endurance (aerobic exercise...
Studies in orphan diseases are, by nature, confronted with small patient populations, meaning that randomized controlled trials will have limited statistical power. In order to estimate the effectiveness of treatments in orphan diseases and extrapolate effects into the future, alternative models might be needed. The purpose of this study is to develop a conceptual disease model...
Pompe disease is a rare metabolic myopathy for which disease-specific enzyme replacement therapy (ERT) has been available since 2006. ERT has shown efficacy concerning muscle strength and pulmonary function in adult patients. However, no data on the effect of ERT on the survival of adult patients are currently available. The aim of this study was to assess the effect of ERT on...
Pompe disease has a broad clinical spectrum, in which the phenotype is partially explained by the genotype. The aim of this study was to describe phenotypical variation among siblings with non-classic Pompe disease. We hypothesized that siblings and families with the same genotype share more similar phenotypes than the total population of non-classic Pompe patients, and that this...
