Bert A.E. van der Pol

University of Groningen, Groningen, Groningen, Netherlands

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Publications (2)4.93 Total impact

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    ABSTRACT: Marfan syndrome (MFS) is diagnosed according to the Ghent nosology, which has recently been revised. In the Netherlands, evaluation for possible MFS is performed in specialized Marfan outpatient clinics. We investigated the diagnostic yield in our clinic and the impact of the 2010 nosology. All adult patients (n = 343) who visited our clinic between 1998 and 2008 were included. We analyzed their reasons for referral, characteristics, and established diagnoses. In addition, we applied the 2010 nosology to all patients and compared the outcomes to those obtained with the 1996 nosology. Diagnoses that were made using the 1996 and the 2010 Ghent nosology included MFS (44/343 vs. 47/343), familial thoracic aortic aneurysm and/or dissection (22/343 vs. 22/343 patients), Loeys-Dietz syndrome (4/343 vs. 4/343 patients), and (familial) mitral valve prolapse (MVPS; 5/343 vs. 28/343 patients). In both nosologies, 77% of MFS patients had an FBN1 mutation. The 2010 nosology led to an increase in the number of diagnoses made: 4 additional cases of MFS were identified (one patient was "lost" who no longer fulfilled the criteria) and 23 additional cases of MVPS were diagnosed. The diagnostic yield of patients with aortic root dilatation was 65% using the 1996 nosology and 70% using the 2010 nosology. The change in diagnoses did not lead to a difference in clinical follow-up. We conclude that the diagnostic yield of our specialized clinic was high, in particular in patients with aortic root dilatation. Further more the 2010 Ghent nosology led to a significant increase in the number of diagnoses made, mainly due to lowering of the diagnostic threshold for MVPS.
    American Journal of Medical Genetics Part A 05/2012; 158A(5):982-8. DOI:10.1002/ajmg.a.35343 · 2.16 Impact Factor
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    ABSTRACT: Light is the signal that entrains the biological clock in humans to the 24-hour external time. Recently, it has been shown that short wavelengths play a key role in this process. In the present study, we describe a procedure to measure, objectively and in a quick way, the spectral composition of the light reaching the retina in vivo. The instruments involved are the foveal reflection analyzer (FRA) and the macular pigment reflectometer (MPR). By making use of these reflectometers, we show quantitatively that in subjects with cataracts, the light input is especially reduced in the short wavelength range. After cataract surgery during which the crystalline lens is replaced by a transparent artificial lens, the transmittance of the short wavelengths (between 420-500 nm) improved on average by a factor of 4. We conclude that this technique holds great promises for the chronobiological field because it allows for quantification of the spectral composition and light levels reaching the retina in vivo.
    Journal of Biological Rhythms 04/2010; 25(2):123-31. DOI:10.1177/0748730409360888 · 2.77 Impact Factor