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321,215 results
  • p.G360R Is a Pathogenic GLA Gene Mutation Responsible for a Classic Phenotype of Fabry Disease. [Case Reports]
    Cardiology 2019; :1-6Carvalho Silva DM, Marques N, … de Jesus I
  • The authors report the case of a classic phenotype of Fabry disease in a 60-year-old male patient presenting with left ventricular hypertrophy and stroke. Genetic analysis revealed 2 GLA-gene variants, i.e., p.R356Q and p.G360R. This clinical case highlights that the finding of 2 or more GLA gene variants in a Fabry patient should lead to a careful evaluation in order to determine their exact rol…
  • Myocardial Infarction with non-obstructed coronaries - atypical presentation of pheochromocytoma. [Journal Article]
    Endocrinol Diabetes Metab Case Rep 2019; 2019Melson E, Amir S, … Kempegowda P
  • Although pheochromocytoma classically presents with headaches, palpitations and paroxysmal hypertension, atypical presentations such as cardiomyopathy, stroke and subarachnoid haemorrhage have been infrequently documented. We present in this case report, an uncommon presentation of pheochromocytoma with myocardial infarction with normal coronary arteries (MINOCA). A 79-year-old woman presented wi…
  • Non-traumatic cervical artery dissection and ischemic stroke: A narrative review of recent research. [Review]
    Clin Neurol Neurosurg 2019; 187:105561Marciniec M, Sapko K, … Rejdak K
  • Cervical artery dissection (CAD) is a leading cause of ischaemic stroke (IS) in young and middle-aged adults. Despite well characterized clinical presentation, the diagnosis of CAD can be quite challenging due to a wide variety of symptoms ranging from minor neck pain to severe neurological symptoms. Invasive diagnostic procedures such as DSA are nowadays being replaced by the sensitive and CAD-s…
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