Paul de Laat

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The distribution of precipitation events in the Meuse basin during the past century has been found to reflect the large-scale atmospheric circulation, as characterised by the Grosswetterlagen system. Statistical analysis of the long observation records (1911-2002) for the basin showed that although the annual (November to October) and winter half-year(More)
OBJECTIVE To describe the spectrum of retinal abnormalities associated with the m.3243A>G mutation in the mitochondrial MTTL1 gene and to analyze putative correlations among the severity of retinal abnormalities, disease severity in other organ systems, and heteroplasmy levels. DESIGN Observational, cohort-based, cross-sectional study. PARTICIPANTS(More)
In this observational cohort study, we examined the prognostic value of growth and differentiation factor 15 (GDF15) in indicating and monitoring general mitochondrial disease severity and progression in adult carriers of the m.3243A>G mutation.Ninety-seven adult carriers of the m.3243A>G mutation were included in this study. The Newcastle mitochondrial(More)
OBJECTIVES To determine the value of fibroblast growth factor 21 (FGF21), a recently discovered biomarker for mitochondrial disease, in predicting clinical disease severity and disease progression in adult carriers of the m.3243A>G mutation. METHODS In the context of a national inventory, the heteroplasmy levels of the m.3243A>G mutation were measured in(More)
The m.3243A > G mutation is the most prevalent, disease-causing mitochondrial DNA (mtDNA) mutation. In a national cohort study of 48 families harbouring the m.3243A > G mutation, we identified three families in which the mutation appeared to occur sporadically within these families. In this report we describe these three families. Based on detailed mtDNA(More)
BACKGROUND Previous research has shown that dysphagia and gastrointestinal problems occur frequently in carriers of the m.3243A>G mutation; however, the exact frequency and severity have not been determined. We hypothesise that adult carriers have an increased risk for malnutrition. METHODS In this observational study we evaluated the presence of(More)
Graves' disease is the most prevalent cause of hyperthyroidism in children. The treatment commonly involves antithyroid therapy using a thionamide. We present a case of a 13-year-old girl with the antithyroid arthritis syndrome, presenting as a migratory polyarthritis, after the initiation of thionamide treatment for Graves' disease. Antithyroid arthritis(More)
BACKGROUND More than half of the patients harbouring the m.3243A > G mutation were found to have trouble maintaining balance when walking in a recent study by our group. Others demonstrated that these patients had an abnormal gait pattern, as quantified by gait analysis. Gait analysis is an emerging method to quantify subtle changes in walking pattern, also(More)
INTRODUCTION The mitochondrial DNA m.3243A>G mutation is the most prevalent mutation causing mitochondrial disease in adult patients. Aside from some case reports, there are no studies on obstetric complications in a cohort of m.3243A>G carriers. We aimed to identify the prevalence of obstetric complications in a cohort of women carrying the m.3243A>G(More)