Nederlands tijdschrift voor geneeskunde
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Ned Tijdschr Geneeskd · Feb 2005
Case Reports[The aortocaval fistula, a rare complication of an aneurysm of the abdominal aorta].
Four patients, 3 men aged 73, 60 and 81 years with hemodynamic instability and 1 man aged 80 with abdominal symptoms and breathlessness appeared to have an arteriovenous fistula secondary to spontaneous rupture of an atherosclerotic aneurysm: between the aorta and the V. cava inferior or between the A. and the left V. iliaca communis. One patient died, one patient had postoperative decompensatio cordis, one suffered a deep vein thrombosis and the 4th recovered without symptoms. ⋯ Furthermore, a fistula can be the underlying cause of therapy-resistant heart failure or acute renal dysfunction. Pre-operative identification can lead to decrease of morbidity and mortality of the phenomenon.
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Ned Tijdschr Geneeskd · Feb 2005
Review[From gene to disease; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis].
The neuronal ceroid lipofuscinoses (NCL) are worldwide the most common lysosomal storage disorders of childhood. Clinical features often include progressive visual impairment, seizures, psychomotor deterioration, dementia, and premature death. ⋯ Diagnosis at the protein level is not available for JNCL, but CLN3 mutation analysis is possible. The carrier status of healthy relatives in families with known mutations in either CLN1, CLN2, CLN3 or CLN6 can be determined with certainty by mutation analysis.