Alveolar Proteinosis, Infectious Complications and Monocytopenia Associated with GATA2 Deficiency.

The authors describe a case of a rare disorder associated with GATA 2 deficiency, which is an important hematopoietic transcription factor for the development of monocytes. The clinical hallmarks of GATA2 deficiency include monocytopenia, cellular immunodeficiency with a resultant marked susceptibility to infections (mycobacterial, fungal, and viral), predisposition to myelodysplasia, alveolar proteinosis of the lungs and congenital lymphoedema. These features overlap with other genetic and acquired syndromes. It is therefore important to establish a genetic diagnosis early. The only known curative treatment is hematopoietic stem cell transplantation and is integral to the appropriate management of these patients.

Overexpression of Galectin-3 in Chronic Lymphocytic Leukemia Is Associated With 17p Deletion: A Short Report.

BACKGROUND/AIM: Galectins belong to the family of galactose-binding proteins known to play an important role in the processes of cell proliferation, differentiation, migration and neoplastic progression. Herein, we studied the expression of galectin-3 (Gal-3) in chronic lymphocytic leukemia (CLL). MATERIALS AND METHODS: The expression of Gal-3 was analyzed by means of multiparametric flow cytometry in normal and pathological B-cells from peripheral blood and bone marrow samples of 67 patients with CLL. RESULTS: Pathological B-cells expressed significantly higher levels of cytoplasmic Gal-3 than normal B-cells. Moreover, overexpression of cytoplasmic Gal-3 was observed in the prognostically poorest subgroup of CLL patients, namely those with 17p deletion. CONCLUSION: Our results indicate a possible role of galectin-3 in CLL pathophysiology and its potential value as a prognostic marker and therapeutic target.

The first report of animal genotypes of Cryptosporidium parvum in immunosuppressed and immunocompetent humans in Slovakia.

The aim of our study was to determine species and genotypes of Cryptosporidium in patients suffering from immunosuppressive illnesses, but also in immunocompetent patients suffering from diarrhoea. A total of 80 samples of faeces were collected from both immunosuppressed and immunocompetent patients. The immunosuppressed patients (65 samples) - 35 adult patients (group A) and 30 children (group B) were hospitalized at the Clinic of Oncohemathology. Samples from immunocompetent humans (15 samples, group C) were taken from patients with clinical signs of acute diarrhoea. With the use of molecular methods targeting the 60 kDa glycoprotein (GP60) gene region, we have identified multiple genotypes of Cryptosporidium. parvum and Cryptosporidium. hominis in immunocompromised, but also in immunocompetent individuals (C. hominis IbA10G2, IeA12G3T3; C. parvum IIaA10G1R1, IIaA11G2R1, IIaA12G2R1, IIaA13G1R1, IIaA14G1R1, IIaA14G2R1, IIaA17G1R1 and IIaA18G1R1). This is the first report of the occurrence of genotypes IIaA10G1R1, IIa12G2R1 and IIaA18G1R1 in human hosts.

Detection of anti-infliximab antibodies in Slovak IBD patients and its costs saving effect.

OBJECTIVE: Management chronic inflammatory bowel disease (IBD) patients is associated with diagnosis, targeted treatment and and individual approach. There is a group of patients which loss the response to the biologic treatment caused by insufficient levels of biologics or positive antibodies against these drugs. This study was aimed to determine the prevalence of patients with positive antibodies against the biological treatment and the costs saving probabilities of the antibodies detection during the treatment. STUDY DESIGN: This retrospective study was based on examination of 183 IBD patients' sera (72 with Crohn's disease (CD) and 111 ulcerative colitis (UC)) treated with infiliximab. METHODS: Circulating serum infliximab concentrations and anti-infliximab antibodies (ATI) were quantified by ELISA methods. Costs associated with the treatment were analysed from the data of General Health Insurance Company, Slovakia. RESULTS: The average infliximab concentrations in groups of CD were 2.9 µg/mL, 38.9% of samples had a concentration ≤1 µg/mL. Group with UC had average infliximab levels of 3.19 µg/mL, 32.4% bellow ≤1 µg/mL. Positive ATI levels were detected in 52 patients, in 28 patients with CD (38.8%) and 24 patients with UC (21.6%). The average values of the antibodies were 387.75 U/ml in CD and 391.94 U/ml in UC group. More than 28% IBD patients were positive for ATI. After application of the results to the database of all IBD patients, finishing of the treatment with ATI could lead (after considering the ATI quantification costs) to possible annual savings of more than €2 million in Slovakian health-care system. CONCLUSIONS: Monitoring of infliximab and antibodies against infliximab and anti-TNF-α biologics may help optimize treatment strategies and costs for biological treatment.