Jeroen W. op den Akker

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Marfan syndrome is a clinically and allelic heterogeneous, heritable connective tissue disorder with infrequently reported neuromuscular features. This study is the first to delineate these symptoms in a non-selected population. Neuromuscular involvement was evaluated in 10 Marfan patients through a standardized questionnaire, physical examination, nerve(More)
Marfan syndrome is a inherited connective tissue disorder due to mutations in fibrillin-1. It presents with cardiovascular, ocular, skeletal, pulmonary and dural signs and symptoms. Some of the symptoms of later onset are those associated with scoliosis and dural ectasia. This is the enlargement of the neural canal especially in the lower lumbar and sacral(More)
A 43-year-old haemodialysis patient was admitted to hospital because of paroxysmal pain in the upper abdominal region radiating to the back. Laboratory tests showed severe hyperparathyroidism [intact parathyroid hormone (iPTH) 69 pmol/L; reference range: 1.3-6.8 pmol/L], hypercalcaemia (2.79 mmol/L), hyperphosphataemia (1.6 mmol/L) and elevated serum total(More)
AIM To assess the current diagnostic and therapeutic management and the clinical implications of congenital single coronary artery (SCA) in adults. METHODS We identified 15 patients with a SCA detected from four Dutch angiography centers in the period between 2010 and 2013. Symptomatic patients who underwent routine diagnostic coronary angiography (CAG)(More)
We describe a new method, bodypainting, to enhance courses in living anatomy. This novel approach was fully integrated in a course that comprised gross anatomy, living anatomy, and physical examination of the major abdominal and thoracic organs. We designed a course in which the students familiarized themselves with the surface markings and subsequently(More)
A male infant diagnosed with CHARGE association presented with respiratory insufficiency and a cardiac murmur. Diagnostic evaluation showed a right sided aortic arch with an isolation of the left subclavian artery arising from the pulmonary artery through a left patent arterial duct. This is a rare cardiac disorder not previously described in patients with(More)
BACKGROUND Coronary artery fistulas (CAFs) are infrequent anomalies, coincidentally detected during coronary angiography (CAG). AIM To elucidate the currently used diagnostic imaging modalities and applied therapeutic approaches. MATERIALS AND METHODS Five Dutch patients were found to have CAFs. A total of 170 reviewed subjects were subdivided into two(More)
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