Congenital trichinellosis ? Case report

A large trichinellosis outbreak in the Slovak Republic caused by the species Trichinella britovi and affecting 336 people also affected a pregnant woman. The mother was infected in the 10thth week of pregnancy and was treated with mebendazole. On her own request abortion was performed in the 22nd week of pregnancy. Medium lgM and high lgG anti-Trichinella antibody titres were found. The placenta, body cavities liquid, tissues and organs of the foetus contained 0.02 - 30 larvae per gram of tissue, measuring 0.68 ± 0.05 - 1.17 ± 0.07 mm, with blurred inner structure. Immunocytochemical examination identified Trichinella larvae that infected the foetus in the early stage of development

Congenital trichinellosis ? Case report

A large trichinellosis outbreak in the Slovak Republic caused by the species Trichinella britovi and affecting 336 people also affected a pregnant woman. The mother was infected in the 10thth week of pregnancy and was treated with mebendazole. On her own request abortion was performed in the 22nd week of pregnancy. Medium lgM and high lgG anti-Trichinella antibody titres were found. The placenta, body cavities liquid, tissues and organs of the foetus contained 0.02 - 30 larvae per gram of tissue, measuring 0.68 ± 0.05 - 1.17 ± 0.07 mm, with blurred inner structure. Immunocytochemical examination identified Trichinella larvae that infected the foetus in the early stage of development

Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia

Hereditary nonpolyposis colorectal cancer (HNPCC) is a dominantly-inherited cancer predisposition syndrome, in which the susceptibility to cancer of the colon, endometrium and ovary is linked to germline mutations in DNA mismatch repair (MMR) genes. We have recently initiated a cancer prevention program in suspected HNPCC families in the Slovak Republic. The first ten families fulfilling Amsterdam criteria or Bethesda guidelines were screened for germline mutations in MLH1 and MSH2, two MMR genes most frequently mutated in HNPCC families. Six mutations were identified, five of which have not been reported previously. Two of the three new mutations in MLH1 (c.380+2T>A; c.307-2A>C) were absent from 100 chromosomes of healthy controls and probably cause a splicing defect, while the third was a 1 bp deletion (c.1261delA). In the MSH2 gene, one new nonsense (c.1030C>T [p.Q344X]) and one missense (c.524T>C [p.L175P]) mutation were identified. This latter variant was not found in 104 alleles of healthy control individuals. Moreover, a previously-reported pathogenic mutation (c.677G>T [p.R226L]) was found in one kindred. The clinical data and the genotypic and phenotypic evaluation of the tumors indicate that all the new alterations are pathogenic HNPCC mutations