We report the first detection of bla CTX-M-19 in South America, harboured in an Escherichia coli isolate obtained from a urine sample; such an isolate belonged to phylogenetic group A, ST603, and showed a ceftazidimase profile. bla CTX-M-19 was encoded in an approximately 100 kb IncI1/IncF conjugative plasmid, featuring pndAC and hok/sok addiction systems; the β-lactamase gene was flanked upstr...

Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disease characterized by widespread tissue deposition of two neutral sterols, cholestanol and cholesterol, resulting in tendinous xanthomas, juvenile cataracts, progressive neurological defects and premature death from arteriosclerosis. The primary biochemical defect is deficiency of hepatic mitochondrial enzyme sterol-2...

The formation of ursodeoxycholic acid, the 7 beta-hydroxy epimer of chenodeoxycholic acid, was investigated in three subjects with cerebrotendinous xanthomatosis and in four subjects with gallstones. Total biliary bile acid composition was analyzed by gas-liquid chromatography before and after 4 months of treatment with 0.75 g/day of chenodeoxycholic acid. Individual bile acids were identified ...

Seven patients with cerebrotendinous xanthomatosis (CTX) were studied by electrophysiological techniques. The percentages of abnormalities detected in nerve conduction studies and electroencephalograms were 28.6% (two patients) and 100%, respectively. All patients showed prolonged central conduction times in short latency somatosensory evoked potentials (SSEPs) by tibial nerve stimulation but n...

A 44-year-old man presented with progressive cerebellar ataxia and spastic paraparesis (see the video on the Neurology Web site). Gait difficulties had started at age 16 years, and at age 42 years bilateral cataracts were diagnosed. His cognitive function progressively declined, and seizures repeatedly occurred. Although diarrhea and tendon xanthomas were not overt, clinical and laboratory inve...