A5053048293- Lysosomal Storage Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Tuberculosis Research and Epidemiology
- Child Nutrition and Feeding Issues
- Diagnosis and treatment of tuberculosis
- Parkinson's Disease Mechanisms and Treatments
- Carbohydrate Chemistry and Synthesis
- Pneumocystis jirovecii pneumonia detection and treatment
- Neurogenetic and Muscular Disorders Research
- Pneumonia and Respiratory Infections
- Infectious Diseases and Tuberculosis
- Health Systems, Economic Evaluations, Quality of Life
- Trypanosoma species research and implications
- Health disparities and outcomes
- Esophageal Cancer Research and Treatment
- Cerebral Palsy and Movement Disorders
- Esophageal and GI Pathology
- Mycobacterium research and diagnosis
- Biochemical and Molecular Research
- Gastroesophageal reflux and treatments
- Chronic Disease Management Strategies
- HIV/AIDS Impact and Responses
- Mental Health Treatment and Access
- Employment and Welfare Studies
- Health Promotion and Cardiovascular Prevention
Erasmus MC
2016-2025
Erasmus University Rotterdam
2003-2024
Erasmus MC - Sophia Children’s Hospital
2014-2023
Institute of Social and Preventive Medicine
2022
University of Bern
2022
Institut de Myologie
2019
Assistance Publique – Hôpitaux de Paris
2019
Sorbonne Université
2019
Inserm
2019
University Medical Center
2017
<h3>Background</h3> Major depression is the largest single cause of nonfatal disease burden in Australia. Effective drug and psychological treatments exist, yet are underused. <h3>Objective</h3> To quantify currently averted people seeking care for major amount that could be these under optimal episodic maintenance treatment strategies. <h3>Design</h3> Modeling impact current strategies based on secondary analysis mental health survey data, studies natural history depression, meta-analyses...
Non-tuberculous mycobacteria have long been identified as capable of causing human disease and the number at risk, due to immune-suppression, is rising. Several reports suggested incidence be increasing, yet routine surveillance-based evidence lacking. We investigated recent trends in, epidemiology of, non-tuberculous mycobacterial infections in England, Wales Northern Ireland, 1995-2006.Hospital laboratories voluntarily report Health Protection Agency Centre for Infections. Details reported...
<h3>Background:</h3> Extrapulmonary tuberculosis appears to be increasing in England and Wales. The trends extrapulmonary factors associated with these were examined. <h3>Methods:</h3> National surveillance data from 1999–2006 for Wales used, including demographic, clinical laboratory information. Trends the proportion of cases disease investigated using χ<sup>2</sup> trend test logistic regression. <h3>Results:</h3> Among all tuberculosis, increased 48% 1999 (2717 cases) 53% 2006 (4205...
Tuberculosis (TB) disease adversely affects mother and child, strategies to control TB in this group are important. The aim of study was analyze the epidemiology pregnancy, establish whether pregnancy is an independent risk factor for TB.The United Kingdom-wide cohort based on General Practitioner Research Database (GPRD), enrolling all women with pregnancies between 1996 2008. Incidence rates incidence rate ratios (IRRs) events during 6 months postpartum, outside were calculated compared by...
To determine the effect of enzyme replacement therapy (ERT) after 5 years and to identify predictors for a favorable response because few data are available on long-term efficacy ERT in Pompe disease.We included 102 adult patients with disease nationwide, prospective cohort study. We assessed muscle strength (manual testing Medical Research Council [MRC] grading, handheld dynamometry [HHD]), function (6-minute walk test, Quick Motor Function Test), daily life activities (Rasch-Built...
Abstract Background Pompe disease is a rare metabolic myopathy for which disease-specific enzyme replacement therapy (ERT) has been available since 2006. ERT shown efficacy concerning muscle strength and pulmonary function in adult patients. However, no data on the effect of survival patients are currently available. The aim this study was to assess with disease. Methods Data were collected as part an international observational conducted between 2002 2011, followed annual basis....
<h3>Objective</h3> To determine the effects of 10 years enzyme replacement therapy (ERT) in adult patients with Pompe disease, focusing on individual variability treatment response. <h3>Methods</h3> In this prospective, multicenter cohort study, we studied 30 from Netherlands and France who had started ERT during only randomized placebo-controlled clinical trial late-onset disease (NCT00158600) or its extension (NCT00455195) 2005 to 2008. Main outcomes were walking ability (6-minute walk...
Abstract 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 and also identified potential prognostic factors. Methods Patients this open-label single-center study were treated biweekly 20 mg/kg alglucosidase alfa. Muscle strength, muscle function, pulmonary function assessed every 3–6 months analyzed using repeated-measures ANOVA. Results Sixty-nine...
Elevated plasma cardiac troponin T (cTnT) levels in patients with neuromuscular disorders may erroneously lead to the diagnosis of acute myocardial infarction or injury.In 122 Pompe disease, relationship between cTnT, I, creatine kinase (CK), CK-myocardial band levels, and skeletal muscle damage was assessed. ECG echocardiography were used evaluate possible disease. Patients divided into classic infantile, childhood-onset, adult-onset patients. cTnT elevated 82% (median 27 ng/L, normal...
Abstract Background and purpose Two novel enzyme replacement therapies (ERTs), studied in phase 3 trials late‐onset Pompe patients, reached marketing authorization by the European Medicines Agency 2022 2023. The Consortium (EPOC) updates extends scope of 2017 recommendations for starting, switching stopping ERT. Methods consists 25 neuromuscular metabolic experts from eight countries. This update was performed after an in‐person meeting, three rounds discussion voting to provide a consensus...
<h3>Background:</h3> In 1998, the World Health Organization (WHO) and International Union Against Tuberculosis Lung Disease (IUATLD) published recommendations standardising evaluation of tuberculosis treatment outcome in Europe. These guidelines fail to account for clinically appropriate alterations management patients. <h3>Objectives:</h3> To evaluate England, Wales Northern Ireland by redefining criteria investigate factors associated with unsuccessful 12 months after notification....
Pompe disease has a broad clinical spectrum, in which the phenotype is partially explained by genotype. The aim of this study was to describe phenotypical variation among siblings with non-classic disease. We hypothesized that and families same genotype share more similar phenotypes than total population patients, might reveal genotype-phenotype correlations. identified all Dutch two or three were diagnosed described genotype, acid α-glucosidase activity, age at symptom onset, presenting...
Summary Background Pompe disease is an inheritable metabolic disorder for which enzyme replacement therapy (ERT) has been available since 2006. Effects of ERT have shown on distance walked, pulmonary function and survival. We investigated whether it also improves quality life participation in daily adult patients with the disease. Methods In international survey, we assessed (Short Form 36, SF‐36) (Rotterdam Handicap Scale, RHS) annually between 2002 2012. Repeated measurements mixed effects...
Spinal muscular atrophy (SMA) is an autosomal recessive disorder causing progressive proximal muscular, respiratory, and bulbar weakness. We present outcome data on motor function, ventilation, nutrition, language development of SMA patients treated with nusinersen in Switzerland. This multicenter, observational study included 44 patients. At treatment initiation, after 2 months then every 4 we assessed function the Children's Hospital Philadelphia Infant Test Neuromuscular Disorders...
Pompe disease is a proximal myopathy. We investigated whether exercise training safe and useful adjuvant therapy for adult patients, receiving enzyme replacement therapy. Training comprised 36 sessions of standardized aerobic, resistance core stability exercises over 12 weeks. Before after, the primary outcome measures safety, endurance (aerobic capacity distance walked on 6 min walk test) muscle strength, secondary stability, function body composition, were evaluated. Of 25 patients...
Pompe disease is a progressive metabolic myopathy. Involvement of respiratory muscles leads to pulmonary dysfunction, particularly in supine position. Diaphragmatic weakness considered be the most important component. Standard spirometry some extent indicative but provides too little insight into diaphragmatic dynamics. We used lung MRI study and chest-wall movements disease.In ten adult patients six volunteers, we acquired two static spirometer-controlled scans during maximum inspiration...