Distribution of killer cell immunoglobulin-like receptor genes in population of Vojvodina, Serbia.

BACKGROUND: Killer cell immunoglobulin-like receptors (KIRs) are glycoproteins regulating the response of natural killer (NK) cells and a few sub-sets of T-cells. The KIR gene frequencies and genotype content vary considerably among different ethnic groups. AIM: The aim of this study was to analyse KIR gene polymorphism in the population of Vojvodina and to compare it with selected worldwide populations. SUBJECTS AND METHODS: The studied sample consists of 134 healthy unrelated individuals, residents of different geographical regions of Vojvodina. DNA samples isolated from peripheral blood leukocytes by the silica-based extraction method were used in reverse PCR-SSO and PCR-SSP technique to detect the presence and absence of KIR genes. RESULTS: All 16 KIR genes, a total of 37 different KIR genotypes, were observed in the Vojvodina population with the presence of framework and pseudogenes in all individuals. The neighbour-joining phylogenetic tree shows that the Vojvodina population is in the same cluster with Croatians, Turkish, Russians, Czechs, Irish, Italians, French, Macedonians and Polish. The Vojvodina population shows polymorphism of the KIR gene family present in other European and European-derived populations studied previously. CONCLUSION: The present study may serve as a reference for comparisons in further anthropological and disease association studies and also provide more informative data valuable for donor search strategy in haematopoietic stem cell transplantation.

[Importance of psychological support for families of children with cancer].

INTRODUCTION: A family of a child with cancer needs continuous help and support from medical and other professionals, relatives, friends and community at the moment of making diagnosis and during the treatment. The goal of this study was to find out the most frequent sources of individual or community based psychological support, reported by parents of children suffering from malignant diseases. We focused on the help received at the moment of making diagnosis and within the first and second year of treatment. MATERIAL AND METHODS: We analyzed data obtained by a questionnaire specially designed for parents of children suffering from different malignancies. The poll was conducted from April 2007 till October 2009 at the Hematology/Oncology Department of Children's Hospital of Novi Sad and it included 72 parents of both sexes, whose children were treated at our Department in the period from 2007 to 2009. The children were of different age. RESULTS: The parents selected the following forms of support as the most important: support given by the emotional partner and other family members (together with sick and healthy child), communication with and accessibility of hospital stuff (physicians at the first place, but also psychologists, nurses, other parents, support groups...). They also expressed their need for contacting friends, relatives and other close people. The selected forms of support are extremely important for the patients (regardless of age) and for their family. All forms of organized and professionally conducted psycho-social support of patients and their family result in higher quality of psychological survival during the treatment and further rehabilitation of patients after rejoining their primary social environment. CONCLUSION: Family is the primary and the most important social surrounding within which disease both happens and is resolved. Adequate support can help family to overcome such crises, thus leading to the positive outcome.

[Financial justification of investments into special diet for patients with phenylketonuria].

INTRODUCTION: Phenylketonuria is a genetic disorder of metabolism of amino acid phenylalanine, which results in the absence of phenylalanine hydroxylase, an enzyme that catalyzes the conversion of phenylalanine into tyrosine. It is an autosomal recessive disorder. Screening for phenylketonuria in Voivodina started in 2003. Screening data are shown in this paper. Treatment of phenylketonuria is based on a strict, life long, low protein diet with the controlled phenylalanine intake. Diet must start early, in the first weeks of life. The aim of the diet is to reduce natural protein intake and to cover protein needs by special phenylalanine free protein products. There is a big variety of formulas found available on the market for treatment of phenylketonuria. All of them are free of phenylalanine and very expensive. DISCUSSION: Till May 2005 there was no refunding for these products in our country. According to the decision made by the Provincial Secretariat for Health, providing all children with protein supplement in their first year of life started at the Institute for Child and Youth Healthcare. In September 2007 the Republic Fund for Health Insurance started to refund protein supplement and low protein products for all children up to the age of 18 years. CONCLUSION: Besides all technical and organizational difficulties associated with this work, this paper also shows how, by good prevention of phenylketonuria complications, much more money can be saved than it has been invested, even in countries with low amounts of money allocated for this purpose (in absolute figures).

[Biphenotypic acute leukaemia: case reports of two paediatric patients].

INTRODUCTION: Biphenotypic acute leukaemia is an uncommon type of leukaemia whose blasts co-express myeloid and B-or T-lymphoid antigens. CASE REPORT: We describe two cases of paediatric patients with biphenotypic acute leukaemia. A four-year-old female patient was found to have myeloid and B-lymphoid associated antigens in the same blast cells. Cytogenetic analysis showed a Philadelphia (Ph) positivity t (9;22) (q34;q1l1 with rearrangements of M.bcr-Abl (p210). She was treated with combined acute myeloid leukaemia/acute lymphoblastic leukaemia induction therapy followed by autologous stem cell transplantation. The patient died due to the complications of stem cell transplantation procedure. Another patient was a 20-month-old girl with myeloid and T-lymphoid associated antigens in the blast cells and with normal karyotype. She received acute myeloid leukaemia induction therapy. She has never achieved remission. DISCUSSION: Immunophenotype is essential to establish the diagnosis of biphenotypic acute leukaemia according to the scoring system adopted by the European Group of Immunological Classification of Leukaemia. There is no agreement about uniformity in treatment for the patients with this type of leukaemia. Biphenotypic acute leukaemia is a high risk leukaemia which requires a more intensive treatment. CONCLUSION: Therapy for every patient with biphenotypic acute leukaemia should depend on their immunophenotype and gene rearrangement profiles.