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Amsterdam-Zuidoost, Netherlands

Sudden cardiac death occurs in a minority of patients in the absence of structural or functional abnormalities. In this category, pure electrical heart diseases are responsible for a large number of these unexpected deaths. These conditions include the long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, short QT syndrome (collectively referred to as channelopathies) and idiopathic ventricular fibrillation. This article reviews the current molecular understanding of the electrical diseases of the heart associated with sudden cardiac death, and provides a summary of the causal genes and a flowchart with an overview of the genotype-phenotype correlation of the most common arrhythmia syndromes. © 2010 Future Medicine Ltd.

Background: Timely intervention in patients with splenic injury is essential, since delay to treatment is associated with an increased risk of mortality. Transcatheter Arterial Embolisation (TAE) is increasingly used as an adjunct to non-operative management. The aim of this study was to report time intervals between admission to the trauma room and start of intervention (TAE or splenic surgery) in patients with splenic injury. Methods: Consecutive patients with splenic injury aged ≥16 years admitted between January 2006 and January 2012 were included. Data were reported according to haemodynamic status (stable versus unstable). In haemodynamically (HD) unstable patients, transfusion requirement, intervention-related complications and the need for a re-intervention were compared between the TAE and splenic surgery group. Results: The cohort consisted of 96 adults of whom 16 were HD unstable on admission. In HD stable patients, median time to intervention was 105 (IQR 77-188) min: 117 (IQR 78-233) min for TAE compared to 95 (IQR 69-188) for splenic surgery (p = 0.58). In HD unstable patients, median time to intervention was 58 (IQR 41-99) min: 46 (IQR 27-107) min for TAE compared to 64 (IQR 45-80) min for splenic surgery (p = 0.76). The median number of transfused packed red blood cells was 8 (3-22) in HD unstable patients treated with TAE versus 24 (9-55) in the surgery group (p = 0.09). No intervention-related complications occurred in the TAE group and one in the splenic surgery group (p = 0.88). Two spleen related re-interventions were performed in the TAE group versus 3 in the splenic surgery group (p = 0.73). Conclusions: Time to intervention did not differ significantly between HD unstable patients treated with TAE and patients treated with splenic surgery. Although no difference was observed with regard to intervention-related complications and the need for a re-intervention, a trend towards lower transfusion requirement was observed in patients treated with TAE compared to patients treated with splenic surgery. We conclude that if 24/7 interventional radiology facilities are available, TAE is not associated with time loss compared to splenic surgery, even in HD unstable patients. © 2013 Elsevier Ltd. All rights reserved.

Li K.-Y.,Leiden Institute of Chemistry | Witte M.D.,Leiden Institute of Chemistry | Aten J.,Meibergdreef | Jiang J.,Leiden Institute of Chemistry | And 7 more authors.
Angewandte Chemie - International Edition | Year: 2012

A high-end label: Cyclophellitol aziridine-type activity-based probes allow for ultra-sensitive visualization of mammalian β-glucosidases (GBA1, GBA2, GBA3, and LPH) as well as several non-mammalian β-glucosidases (see picture). These probes offer new ways to study β-exoglucosidases, and configurational isomers of the cyclophellitol aziridine core may give activity-based probes targeting other retaining glycosidase families. Copyright © 2012 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Vester M.E.M.,Amsterdam Medical Center | Vester M.E.M.,Netherlands Forensic Institute | Visser G.,University Utrecht | Wijburg F.A.,Meibergdreef | And 4 more authors.
European Journal of Pediatrics | Year: 2016

Patients with glutaric aciduria type 1 (GA1), a rare inherited metabolic disorder, have an increased risk for subdural hematomas (SDHs). GA1 is therefore generally included in the differential diagnosis of children presenting with SDHs. This retrospective cohort study reviews all 25 registered, in the Dutch Diagnosis Registration for Metabolic Disorders, GA1 patients in the Netherlands. This was done between May 2014 and November 2014 to determine the lifetime incidence of SDHs in this population. Seventeen patients were diagnosed either due to clinical symptoms or because of family members with GA1. One out of these 17 had a SDH. This patient showed widened Sylvian fissures on MRI, characteristic for GA1. Eight patients were diagnosed by newborn screening. Three of them had neuroimaging results, and none of them had SDHs. This study shows an overall lower incidence (4.0 %) of SDHs in patients with GA1 than reported in the literature (20–30 %). Conclusion: This finding, in combination with the fact that SDHs in GA1 appear to occur only in the presence of characteristic brain abnormalities on imaging, we recommend that GA1 should not routinely be a part of the differential diagnosis of children with unexplained SDHs in the absence of imaging characteristics suggestive of GA1. What is known:• Glutaric aciduria type 1 is a rare metabolic disorder predisposing children to subdural hematoma development due to brain abnormalities.• Because of these subdural hematomas, glutaric aciduria type 1 testing is part of abusive head trauma work-up.What is new:• The overall subdural hematoma incidence in glutaric aciduria type 1 patients is much lower than previously reported and only occurs in case of predisposing brain abnormalities. © 2016, The Author(s).

Lahrouchi N.,Meibergdreef | Bezzina C.R.,Meibergdreef
Netherlands Heart Journal | Year: 2016

Cardiac resynchronisation therapy (CRT) is an accepted treatment for heart failure patients with depressed left ventricular (LV) function and dyssynchrony. However, despite better clinical outcome and improved cardiac function after CRT in the majority of eligible heart failure patients, a large proportion of implanted patients do not seem to benefit clinically from this therapy. In this review we consider whether genetic factors may play a role in modulating response to CRT and summarise the few genetic studies that have investigated the role of genetic variation in candidate genes. © The Author(s) 2015.

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