Genotypic and Phenotypic Characterization of Stenotrophomonas maltophilia Strains from a Pediatric Tertiary Care Hospital in Serbia.

Background: Stenotrophomonas maltophilia is an environmental bacterium and an opportunistic pathogen usually associated with healthcare-associated infections, which has recently been recognized as a globally multi-drug resistant organism. The aim of this study was genotyping and physiological characterization of Stenotrophomonas maltophilia isolated in a large, tertiary care pediatric hospital in Belgrade, Serbia, hosting the national reference cystic fibrosis (CF) center for pediatric and adult patients.

Methods: We characterized 42 strains of cystic fibrosis (CF) and 46 strains of non-cystic fibrosis (non-CF) origin isolated from 2013 to 2015 in order to investigate their genetic relatedness and phenotypic traits.

Appendiceal involvement in a patient with Gaucher disease.

Almost any anatomical compartment may be involved in Gaucher disease (GD). Abdominal lymphadenopathy occurred during enzyme replacement therapy in more than a dozen children with GD so far. A fourteen-year-old boy from Serbia developed clinical signs of acute appendicitis six years after the onset of GD type 3 related abdominal lymphadenopathy.

Aggressive human neuroblastomas show a massive increase in the numbers of autophagic vacuoles and damaged mitochondria.

Autophagy is activated in cancer cells in response to multiple stresses and has been demonstrated to promote tumor cell survival and drug resistance in neuroblastoma (NB). This study was conducted to analyze the ultrastructural features of peripheral neuroblastic tumors (pNTs) and identify the relation of the types of NTs, the proliferation rate, and MYCN gene amplification with a number of autophagic vacuoles. Our results indicate that aggressive human NBs show a massive increase in the number of autophagic vacuoles associated with proliferation rate and that alteration of the mitochondria might be an important factor for the induction of autophagy in NTs.

The Child Health Care System of Serbia.

The health care system in Serbia is based on a network of public health institutions funded by the National Health Insurance and from the state budget. Access to public health institutions is free. Preventive and curative services are provided at the local level in primary health care centers.

New PAH gene promoter KLF1 and 3'-region C/EBPalpha motifs influence transcription in vitro.

Phenylketonuria (PKU) is a metabolic disease caused by mutations in the phenylalanine hydroxylase (PAH) gene. Although the PAH genotype remains the main determinant of PKU phenotype severity, genotype-phenotype inconsistencies have been reported. In this study, we focused on unanalysed sequences in non-coding PAH gene regions to assess their possible influence on the PKU phenotype.

Burkholderia cepacia complex in Serbian patients with cystic fibrosis: prevalence and molecular epidemiology.

The Burkholderia cepacia complex (Bcc) organisms remain significant pathogens in patients with cystic fibrosis (CF). This study was performed to evaluate the prevalence, epidemiological characteristics, and presence of molecular markers associated with virulence and transmissibility of the Bcc strains in the National CF Centre in Belgrade, Serbia. The Bcc isolates collected during the four-year study period (2010-2013) were further examined by 16 s rRNA gene, pulsed-field gel electrophoresis of genomic DNA, multilocus sequence typing analysis, and phylogenetic analysis based on concatenated sequence of seven alleles.

Novel E. coli ST5123 Containing bla Carried by IncF Plasmid Isolated from a Pediatric Patient in Serbia.

New Delhi metallo-β-lactamase (NDM) is a serious challenge to the treatment of infections and public health. Serbia has been designated as an endemic region for isolates carrying the bla gene, as well as one of several commonly proposed countries of origin. This is the first report of NDM-1-positive Escherichia coli from Serbia.

FAT1 mutations cause a glomerulotubular nephropathy.

Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease (CKD). Here we show that recessive mutations in FAT1 cause a distinct renal disease entity in four families with a combination of SRNS, tubular ectasia, haematuria and facultative neurological involvement. Loss of FAT1 results in decreased cell adhesion and migration in fibroblasts and podocytes and the decreased migration is partially reversed by a RAC1/CDC42 activator.

Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias.

Specific mitochondrial enzymatic deficiencies in the catabolism of branched-chain amino acids cause methylmalonic aciduria (MMA), propionic acidemia (PA) and maple syrup urine disease (MSUD). Disease-causing mutations were identified in nine unrelated branched-chain organic acidurias (BCOA) patients. We detected eight previously described mutations: p.

Early Presentation of Hyperinsulinism/Hyperammonemia Syndrome in Three Serbian Patients.

Hyperinsulinism/hyperammonemia (HI/HA) syndrome is considered as the second most common type of hereditary HI. Correlation of genotype and phenotype in HI/HA syndrome has been described in several studies. We present three Serbian patients with HI/HA syndrome with emphasis on a possible correlation between genotype and clinical manifestations.

siMS Score: Simple Method for Quantifying Metabolic Syndrome.

Objective: To evaluate siMS score and siMS risk score, novel continuous metabolic syndrome scores as methods for quantification of metabolic status and risk.

Materials And Methods: Developed siMS score was calculated using formula: siMS score = 2*Waist/Height + Gly/5.6 + Tg/1.

Nasopharyngeal Capillary Arteriovenous Malformation with Ancient/Symplastic Change: A Simulator of Malignancy.

There are only 8 published cases of symplastic hemangioma (SH), a relatively recently described, distinct benign entity characterized by pleomorphic vascular smooth muscle and interstitial cells in a pre-existing, long-standing vascular lesion. Seven of these cases were of SH in cutaneous locations, and 1 case was described in the mediastinum. We report the case of the 12-year-old girl with a nasopharyngeal tumor mass with prominent symplastic changes arising in the background of a combined capillary arteriovenous malformation.

Associated extrarenal vascular diseases may complicate the treatment and outcome of renovascular hypertension.

Aim: This studied reviewed renovascular hypertension (RVH) due to renal artery stenosis (RAS) in two Serbian paediatric centres from 2001 to 2013.

Methods: The patients' demographic data, underlying syndromes, blood pressure (BP), antihypertensive treatments and outcomes were reviewed.

Results: The incidence of RVH was 1.

Chronic necrotizing pulmonary aspergillosis in an immunocompetent, obese 10-year-old boy.

Chronic necrotizing pulmonary aspergillosis is a rare form of pulmonary aspergillosis. It is usually seen in middle-aged or elderly patients with underlying chronic lung disease or mild immunodeficiency, and has been only rarely encountered in children. Clinical presentation is variable and usually involves constitutional symptoms of several months' duration as well as respiratory symptoms.

Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations.

Purpose: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease characterized by impaired adrenal steroidogenesis and most often caused by CYP21A2 gene mutations. For the first time, we reported complete spectrum and frequency of CYP21A2 gene mutations in 61 unrelated patients with classical and non-classical CAH from Serbia.

Methods: Direct DNA sequencing of whole CYP21A2 gene and polymerase chain reaction with sequence-specific primers for detection of CYP21A1P/CYP21A2 chimeras were combined.

The NO-modified HIV protease inhibitor as a valuable drug for hematological malignancies: Role of p70S6K.

Covalent attachment of NO to the first approved HIV protease inhibitor Saquinavir (Saq-NO) expands the therapeutic potential of the original drug. Apart from retained antiviral activity, the modified drug exerts strong antitumor effects and lower toxicity. In the present study, we have evaluated the sensitivity of different hematological malignancies to Saq-NO.

Preserved insulin sensitivity predicts metabolically healthy obese phenotype in children and adolescents.

Unlabelled: Available data on metabolically healthy obese (MHO) phenotype in children suggest that gender, puberty, waist circumference, insulin sensitivity, and other laboratory predictors have a role in distinguishing these children from metabolically unhealthy obese (MUO) youth. The goal of this study was to identify predictors of MHO phenotype and to analyze glucose and insulin metabolism during oral glucose tolerance test (OGTT) in MHO children. OGTT was performed in 244 obese children and adolescents aged 4.

After-Hours Versus Office-Hours Dental Injuries in Children: Does Timing Influence Outcome?

Aim: The aim of this study was to analyze the outcomes and factors associated with after-hours dental trauma.

Methods: Study sample consisted of 1762 permanent teeth injuries in children, gender and age matched with office-hours injuries. Epidemiological and clinical data were collected from 4 university dental trauma centers.

Carbapenem-resistant Acinetobacter baumannii from Serbia: revision of CarO classification.

Carbapenem-resistant A. baumannii present a significant therapeutic challenge for the treatment of nosocomial infections in many European countries. Although it is known that the gradient of A.

A cryptic three-way translocation t(10;19;11)(p12.31;q13.31;q23.3) with a derivative Y-chromosome in an infant with acute myeloblastic leukemia (M5b).

Acute myeloid leukemia (AML) is a heterogeneous disease characterized by the malignant transformation of hematopoietic precursors to a pathogenic cell clone. Chromosomal band 11q23 harboring MLL (=mixed lineage leukemia) gene is known to be involved in rearrangements with variety of genes as activating partners of MLL in different AML subtypes. Overall, an unfavorable prognosis is associated with MLL abnormalities.

Analysis of Prognostic Factors and Mortality in Children with Esophageal Atresia.

Objective: The survival rate in newborns with congenital esophageal atresia (EA) is about 85-90 %, and it raises over 95 % in the developed countries. The survival rate in developing countries is much lower and the authors describe their experience with 60 newborns.

Methods: Medical records of 60 newborns (40 boys and 20 girls) with congenital EA were reviewed for the prognostic factors and mortality.

Epidemiology of Rett syndrome in Serbia: prevalence, incidence and survival.

Background: Rett syndrome (RTT) is a severe neurodevelopmental disorder that represents the second most common cause of mental retardation in females. However, incidence and prevalence of RTT are scarcely reported.

Methods: A retrospective study included all patients with RTT diagnosed between 1981 and 2012 in Serbia.