Diagnostic Tools of Waldenströms Macroglobulinemia - Best Possibilities for Non-invasive and Long-term Disease Monitoring.

Waldenströms macroglobulinemia (WM) is a B-cell malignancy characterized by high level of monoclonal immunoglobulin M (IgM) paraprotein in blood serum and associated with the bone marrow infiltration by malignant cells with lymphoplasmacytic differentiation. WM remains incurable advances in therapy. Most of WM cases are associated with a somatic point mutation L265P in MYD88. Significantly higher risk of progression from the IgM monoclonal gammopathy of undetermined significance (IgM MGUS) to WM for patients with mutated MYD88 gene suggests that this mutation is an early oncogenic event and plays a central role in development of malignant clones. The second, most prevalent mutation in WM is found in the CXCR4 gene and is often associated with drug resistance and aggressive disease presentation. Therefore, detection of these mutations (MYD88L265P and CXCR4S338X) could be useful diagnostic and prognostic tool for the patients with WM. While detection of these mutations in bone marrow sample is common, the aim of our study was to compare sensitivity of detection of mutation from different cell fraction from peripheral blood and bone marrow. The results show possibility to describe MYD88 and CXCR4 mutation status even from peripheral blood sample (sensitivity for MYD88L265P was 100%, for CXCR4S338X 91%), which significantly facilitate material collection. Moreover, comparable detection sensitivity of these mutations in bone marrow and peripheral blood samples examined before and during the therapy offers a promising tool for more routine diagnostic and monitoring of disease progression.Key words: Waldenström macroglobulinemia - hematology - neoplasms - lymphoma - mutation - MYD88 - CXCR4.

HJV gene mutations in European patients with juvenile hemochromatosis.

A large variety of mutations within the genes encoding hepcidin (HAMP) and hemojuvelin (HJV) have been identified in patients with the severe iron overload disorder juvenile hemochromatosis (JH). The aim of the present study was to evaluate the molecular background of JH in patients from central parts of Europe. Sequence analyses of HAMP and HJV were performed in seven JH patients from six families from Germany, Slovakia, and Croatia. For detection of the G320V mutation in HJV, a rapid polymerase chain reaction-based assay was developed. No mutations were found within the HAMP gene. Six of seven (86%) JH patients carried at least one copy of the G320V mutation within the HJV gene. Four of these patients were homozygous for the G320V mutation. In addition, two novel HJV mutations were identified (C119F and S328fsX337). Taken together, the present study demonstrates that molecular analysis of the HJV gene is a powerful tool for an early and reliable diagnosis of JH. As in affected patients from Greece, the G320V mutation seems to be widely distributed among JH patients from central parts of Europe. Therefore, detection of the G320V mutation could identify the majority of JH cases from these regions non-invasively.

Maintaining remission of ulcerative colitis with the probiotic Escherichia coli Nissle 1917 is as effective as with standard mesalazine.

BACKGROUND AND AIMS: Evidence exists for the pathogenic role of the enteric flora in inflammatory bowel disease. Probiotics contain living microorganisms which exert health effects on the host. We compared the efficacy in maintaining remission of the probiotic preparation Escherichia coli Nissle 1917 and established therapy with mesalazine in patients with ulcerative colitis. PATIENTS AND METHODS: In total, 327 patients were recruited and assigned to a double blind, double dummy trial to receive either the probiotic drug 200 mg once daily (n = 162) or mesalazine 500 mg three times daily (n = 165). The study lasted for 12 months and patients were assessed by clinical and endoscopic activity indices (Rachmilewitz) as well as by histology. The primary aim of the study was to confirm equivalent efficacy of the two drugs in the prevention of relapses. RESULTS: The per protocol analysis revealed relapses in 40/110 (36.4%) patients in the E coli Nissle 1917 group and 38/112 (33.9%) in the mesalazine group (significant equivalence p = 0.003). Subgroup analyses showed no differences between the treatment groups in terms of duration and localisation of disease or pretrial treatment. Safety profile and tolerability were very good for both groups and were not different. CONCLUSIONS: The probiotic drug E coli Nissle 1917 shows efficacy and safety in maintaining remission equivalent to the gold standard mesalazine in patients with ulcerative colitis. The effectiveness of probiotic treatment further underlines the pathogenetic significance of the enteric flora.

[Incidence and current treatment of cytotoxic cyclopeptide (phalloidine) poisoning in pregnant women]. / Incidencia a súcasná liecba cytotoxických cyklopeptidových (faloidných) otráv u gravidných zien.

The authors treated successfully a patient who ingested along with three members of the family the mushroom Amanita phalloides and was in the 24th week of gestation. She gave birth to a healthy infant. The authors discuss the incidence and contemporary treatment of cytotoxic, cyclopeptide (phalloid, hepatotoxic) intoxications, incl. those with Amanita phalloides during pregnancy. They present case-histories and an account on amatoxin intoxications in pregnant women published so far in the literature, and experience with the treatment of a 18-year-old pregnant woman. They reflect whether termination of pregnancy is indicated in pregnant women intoxicated with Amanita phalloides.

[Angiodysplasia--a cause of severe hemorrhage in the gastrointestinal tract]. / Angiodysplázia--prícina zavazného krvcania v gastrointestinálnom trakte.

The authors describe a case of relapsing severe haemorrhage from angiodysplasias localized in the small intestine in an eighty-year-old female patient diagnosed only after probatory laparotomy. They discuss the diagnostic possibilities in angiodysplasia of the gastrointestinal tract and how it can be influenced by therapy. Even after resection of the affected portion of the intestine the formation of new angiodysplasias must be foreseen in previously intact areas and those can be the source of further severe haemorrhage.

[Crohn's disease of the stomach]. / Crohnova choroba zalúdka.

The authors describe the incidence of Crohn's disease at an uncommon site the stomach--in a 40-year-old man. With regard to the steadily increasing incidence of the disease, it is important to consider its presence also in uncommon sites in the gastrointestinal tract. The establishment of the diagnosis must be comprehensive, as even histological examination of endobioptic specimens or resected portions need not be unequivocal from the diagnostic aspect.