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13 papers found.
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Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations

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...

Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up

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

Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy

, 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

Lung MRI and impairment of diaphragmatic function in Pompe disease

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...

Increasing reports of non-tuberculous mycobacteria in England, Wales and Northern Ireland, 1995-2006

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

Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study

Background 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...

Tuberculosis in UK cities: workload and effectiveness of tuberculosis control programmes

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...

Phenotypical variation within 22 families with Pompe disease

Background 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...

Increased aortic stiffness and blood pressure in non-classic Pompe disease

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...

A labelled discrete choice experiment adds realism to the choices presented: preferences for surveillance tests for Barrett esophagus

Michelle E Kruijshaar 2 5 Marie-Louise Essink-Bot 2 4 Bas Donkers 1 Caspar WN Looman 2 Peter D

Different perceptions of the burden of upper GI endoscopy: an empirical study in three patient groups

BackgroundFew studies have evaluated patients’ perceived burden of cancer surveillance tests. Cancer screening and surveillance, however, require a large number of patients to undergo potentially burdensome tests with only some experiencing health gains from it. We investigated the determinants of patients’ reported burden of upper gastrointestinal (GI) endoscopy by comparing...

Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study

Background Enzyme replacement therapy (ERT) in adults with Pompe disease, a progressive neuromuscular disorder, is of promising but variable efficacy. We investigated whether it alters the course of disease, and also identified potential prognostic factors. Methods Patients in this open-label single-center study were treated biweekly with 20 mg/kg alglucosidase alfa. Muscle...