Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

16 patients of the Medical ambulatory at the University of Basel born between 1940 and 1945 were explored with the State-Trait Anxiety Inventory (STAI) of Spielberger for the presence of anxiety. With this self-rating inventory state anxiety as well as general trait anxiety can be recognized. The examined group was not selected on specific diagnoses. Two patients with a heavy organic disease (Aids, Friedreich's ataxia) showed an increased state anxiety and an increased general trait anxiety. Six patients with hypertension showed decreased, average as well as increased values of state anxiety and general trait anxiety. In one patient with epilepsia decreased general trait anxiety and average state anxiety were manifest. A patient with a depressive neurosis and functional abdominal pain showed increased general trait anxiety and average state anxiety. Finally, in six patients with different diseases, such as patients with different diseases, such as bronchitis, diabetes, coronary and congestive heart disease, obesity and myalgias, no deviation of their state and general trait anxiety values was evident when compared with standard values. The results are discussed.
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PMID:[The assessment of anxiety in somatic patients--a pilot study]. 291 53

A 37-year-old man with advanced Friedreich's ataxia was referred to our emergency department with acute exacerbated abdominal pain of unclear aetiology. Laboratory tests showed slightly increased inflammatory parameters, elevated troponin and B-type natriuretic peptide, as well as minimal proteinuria. Transthoracic echocardiography revealed a pre-existing dilated cardiomyopathy. Abdominal sonography showed no pathological alterations. Owing to persistent pain under analgesia, a contrast-enhanced CT-abdomen was performed, which revealed a non-homogeneous perfusion deficit of the right kidney, although neither abdominal vascular alteration, cardiac thrombus, deep vein thrombosis nor a patent foramen ovale could be detected. Taking all clinical and radiological results into consideration, the current incident was diagnosed as a thromboembolic kidney infarction. As a consequence, lifelong oral anticoagulation was initiated.
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PMID:Kidney infarction in Friedreich's ataxia with dilated cardiomyopathy. 2303 61