STK11/LKB1 germline mutations in the first Peutz-Jeghers syndrome patients identified in Slovakia.

Peutz-Jeghers syndrome (PJS) is characterized by number of hamartomatous polyps in the gastrointestinal tract and by mucocutaneous hypermelanocytic lesions at different sites. Older patients have an increased risk of the cancers of small intestine, stomach, pancreas, colon, esophagus, ovary, testis, uterus, breast and lung. In majority of PJS cases, the germline mutations in serine/threonine kinase STK11/LKB1 gene were found to be associated with disease. Here we report the results of a first mutational screen of STK11/LKB1 in PJS patients characterized in Slovak population. The first patient with unusual carcinoma of duodenum was a sporadic case and carried c.842delC change residing in a mutational C6 repeat hotspot. Neither the polyp nor the tumor of the patient displayed the loss of heterozygosity at the site of mutation suggesting different mechanism involved in the formation of polyp and tumor in this case. The second patient belonged to a three-generation family with typical PJS features but not cancers. Interestingly, the patient displayed concomitant occurrence of adenomatous and hamartomatous polyps. Molecular analysis revealed an IVS2+1A>G mutation that alters the second intron 5' splice site and was shown to lead to aberrant splicing mediated by the U12-dependent spliceosome. The same mutation was present in the 9 affected members of the family but in none of their normal relatives. We also observed novel c. IVS2+61G>A unclassified variant, and recurrent IVS2+24G>T and 3UTR+129C>T polymorphisms. Based on the achieved results, we could offer predictive genetic testing and counseling to other members of the patient's families.

[The endorectal advancement flap in the treatment of anorectal fistulae and abscesses]. / Endorektálny posuvný lalok v liecbe anorektálnych fistúl a abscesov.

Since end 1994 all types of high anorectal fistulas were treated by endorectal advancement flap technique. This technique was adopted to treatment of fistulas identified in ischiorectal abscesses in 1997. Our purpose was to demonstrate early experience with this procedure in study focused on minor incontinence, complication and recurrence rate in patients treated in the years 1995-1997.

[Enteral nutrition by means of puncture jejunostomy in patients with septic complications in organs in the abdominal cavity]. / Enterálna výziva metódou punkcnej jejúnostómie u pacientov so septickými komplikáciami orgánov brusnej dutiny.

Authors quoted some own results and experience with using pharmacology define medicine of enteral nutrition feeding served by puncheon jejunostoming in case of difficult malnutrition caused especially by septical condition and also after larger operation of throat and stomach. They stated, that enteral feeding apply into the upper part of jejuna with thin cattier is physiological, secure and economical effective method of nutrition support. Combination serving of nutrition with enteral and parenteral feeding they find out hyperalimentary effect at examined group of patients which was confirmed by watching the anthropometrical parameters.