A 12 year-old boy in Germany developed urinary schistosomiasis in January 2014. He had bathed in rivers in south-eastern Corsica five months earlier. Before this case, human schistomiasis had not been reported on the island, although its vector, the snail Bulinus truncatus, locally transmitted the zoonotic Schistosoma bovis. The boy's father excreted S. haematobium ova that were not viable; the boy's three siblings had a positive serology against schistosomes.
The combined immuno-chromographic-malaria dipstick (ICT) for the rapid diagnosis of malaria detects both Plasmodium falciparum (P.f.)-specific, histidine-rich protein 2 (HRP-2) and a plasmodial aldolase expressed by all Plasmodium species pathogenic to humans. ICT was applied in 674 febrile returnees from malaria-endemic regions attending our Tropical Diseases Unit. Microscopy confirmed malaria in 69/674 cases, of whom 67/69 had returned from Africa or Madagascar, and 2/69 from the Caribbean. Monoparasitic P.f. infection occurred in 52/69, mixed infection was due to P.f.+ P. ovale (P.o.) in 3/69, and P.f.+P. malariae (P.m.) in 1/69 cases. Monoparasitic P. vivax (P.v.) infection occurred in 8/69 , P.o. in 3/69, and P.m. in 2/69 cases . Whereas a positive HRP-2 band on the test was a highly sensitive indicator for P.f. infection (52/52 patients; sensitivity 100%), this was not the case for a positive aldolase band (25/52 patients; sensitivity 48.1%). Sensitivity of aldolase band for non-falciparum plasmodia was even lower: aldolase was positive in only 3/8 (37.5%) of patients with vivax malaria, and in 0/5 cases with P.o.- or P.m. infection. Co-reaction of both bands occurred more frequently in patients with P.f. parasitaemia of > or =40,000/microl (20/25, 80.0%) as compared to patients with P.f. parasitaemia <40,000/microl (5/27, 18.5%; P<0.00005), and to patients with mixed infection (P.f.+ P.o., P.f.+ P.m.: 2/4, 50.0%; diff. n.s.). In our series, co-reaction of HRP-2 and aldolase indicated monoparasitic falciparum malaria with high P.f. parasitaemia, rather than mixed infection. Whereas the aldolase band is not a reliable qualitative marker for malaria, co-reaction of HRP-2 and aldolase band may have a potential for indicating high parasitaemia in falciparum malaria.
The phospholipidfloppase MDR3 (gene symbol: ABCB4) is expressed in the canalicular membrane of hepatocytes and mediates the biliary excretion of phosphatidylcholine, which is required for the formation of mixed micelles in bile. Several mutations of ABCB4 have been identified, which cause cholestatic liver diseases of varying severity including progressive familial intrahepatic cholestasis type 3 (PFIC-3), intrahepatic cholestasis of pregnancy (ICP) and the low phospholipid associated cholelithiasis syndrome (LPAC). Here, we report on four new (S1076N; L 23Hfs16X; c.286 + 1G > A; Q 1181E) and one known (S27G) MDR3 mutations in eight patients of three families. The patients presented with a wide spectrum of liver diseases. The clinical presentation and decisive laboratory findings or the association to a trend-setting family history led to the identification of the genetic background in these patients. Even the same mutation may be associated with varying disease progression.
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