Presenting symptoms of GBA-related Parkinson's disease.

Background: Mutations in the Glucocerebrosidase gene (GBA) are associated with Parkinson's disease (PD). It has been shown that GBA-related PD (PD-GBA) patients had an earlier age at PD onset and more prevalent non-motor symptoms when compared to "sporadic" PD patients without such mutations (sPD).

Aim: To explore whether presenting symptoms differ between PD-GBA and sPD patients.

Identification of novel variants in LRRK2 gene in patients with Parkinson's disease in Serbian population.

Background: Mutations in LRRK2 (leucine-rich repeat kinase 2) are the most common cause of autosomal dominant Parkinson's disease (PD). Large international studies have revealed that pathogenic mutations are clustered in several exons coding for functional domains of LRRK2 protein, but the mutation frequency differs among populations. Systematic study of LRRK2 mutation prevalence and phenotype in Serbian population has not been performed.

Myocardial mechanical and QTc dispersion for the detection of significant coronary artery disease.

Aims: Ischaemic but viable myocardium may exhibit prolongation of contraction and QT interval duration, but it is largely unknown whether non-invasive assessment of regional heterogeneities of myocardial deformation and QT interval duration could identify patients with significant coronary artery disease (CAD).

Methods And Results: We retrospectively studied 205 patients with suspected CAD who underwent coronary angiography. QTc dispersion was assessed from a 12-lead electrocardiogram (ECG) as the difference between the longest and shortest QTc intervals.

Nosocomial pseudo-outbreak of Mycobacterium gordonae associated with a hospital's water supply contamination: a case series of 135 patients.

Nontuberculous mycobacteria (NTM) are opportunistic pathogens found in natural and human-engineered waters. In 2009, a relative increase in the isolation of Mycobacterium gordonae from pulmonary samples originating from General Hospital Zabok was noted by the National Mycobacteria Reference Laboratory. An epidemiological survey revealed a contamination of the cold tap water with M.

HIV-1 integration landscape during latent and active infection.

The barrier to curing HIV-1 is thought to reside primarily in CD4(+) T cells containing silent proviruses. To characterize these latently infected cells, we studied the integration profile of HIV-1 in viremic progressors, individuals receiving antiretroviral therapy, and viremic controllers. Clonally expanded T cells represented the majority of all integrations and increased during therapy.

Epigenetic targeting of activation-induced cytidine deaminase.

Activation-induced cytidine deaminase (AID) initiates class switch recombination (CSR) and somatic hypermutation (SHM) by deaminating cytosine residues in immunoglobulin genes (Igh, Igκ, and Igλ). At a lower frequency, AID also causes collateral DNA damage at non-Ig loci, including genes that are rearranged or mutated in B-cell lymphoma. Precisely how AID is recruited to these off-target sites is not entirely understood.

B cell super-enhancers and regulatory clusters recruit AID tumorigenic activity.

The antibody gene mutator activation-induced cytidine deaminase (AID) promiscuously damages oncogenes, leading to chromosomal translocations and tumorigenesis. Why nonimmunoglobulin loci are susceptible to AID activity is unknown. Here, we study AID-mediated lesions in the context of nuclear architecture and the B cell regulome.

Qualitative analysis of aphid and primary parasitoid trophic relations of genus Alloxysta (Hymenoptera: Cynipoidea: Figitidae: Charipinae).

Charipinae hyperparasitoids affect effectiveness of the primary parasitoids of aphids by decreasing their abundance and modifying their behavior. As a result, increase of aphid populations can cause severe yield losses in some crops. Therefore, ecological studies on the subfamily Charipinae have a great economical and biological importance.

Isolation of urinary extracellular vesicles from Tamm- Horsfall protein-depleted urine and their application in the development of a lectin-exosome-binding assay.

Urine is a readily available source of relatively large quantities of extracellular vesicles (EVs). However, the isolation of urinary EVs (uEVs) is complicated by the presence of Tamm-Horsfall protein (THP), which polymerizes and co-precipitates as a contaminant. This may make glycan analysis of uEVs difficult since THP is heavily glycosylated.

Practices of pediatric oncology and hematology providers regarding fertility issues: a European survey.

Background: Fertility is impaired in many survivors of childhood cancer following treatment. Preservation of fertility after cancer has become a central survivorship concern. Nevertheless, several doctors, patients, and families do not discuss fertility and recommendations for fertility preservation in pediatrics are still lacking.

Surviving childhood leukemia in a Latin culture: an explorative study based on young adults' written narratives.

This study investigated memories of childhood leukemia conveyed by survivors belonging to a Latin culture, exploring whether benefit findings was spontaneously reported, as by non-Latin survivors. Three hundred patients previously treated for leukemia were contacted by post/e-mail and asked to write freely about their illness experience. The 106 letters received were analyzed for narrative structure and content, according to a grounded theory approach.

Parathyroid dual tracer subtraction scintigraphy: small regions method for quantitative assessment of parathyroid adenoma uptake.

Objective: The aim was quantitative assessment of parathyroid adenoma (PTA) uptake in dual tracer dynamic scintigraphy.

Methods: In 78 patients, median age 58 (19-80) years, surgically treated for primary hyperparathyroidism (PHPT), with parathyroid hormone median 125 (70-658) pg/ml, we performed preoperative parathyroid scintigraphy, following EANM guidelines of subtraction and double-phase protocol (2009) using two tracers: Tc-99m pertechnetate and Tc-99m MIBI. In addition to standard subtraction processing and visual interpretation of delayed MIBI planar images of neck and mediastinum in oblique sections (positions according to ultrasound PTA localisation), we developed Submarine processing software that enables selecting custom regions grid sizes ≥6 mm (as this solution was not present in commercial software) to follow time activity curve changes in thyroid tissue and PTA.

Validation of IAEA software package for the analysis of scintigraphic renal dynamic studies: parameters of renal transit in children with renal pelvic dilatation.

Purpose: The objectives of the study were to use the International Atomic Energy Agency (IAEA) software package for the analysis of scintigraphic renal dynamic studies to obtain values of curve parameters and excretory parameters in children with hydronephrosis and to validate the reliability of these numerical outputs by comparing with values established by consensus reports.

Patients And Methods: Fifty children with hydronephrosis (median age, 16 months; 30 boys, 20 girls; 99 kidneys) underwent Tc-MAG3 diuresis renography. Studies were analyzed by 2 observers, and according to the assessment of images, renograms, and differential function, kidneys were classified as normal (42, kidneys contralateral to hydronephrotic kidney), hypotonic unobstructed (49), and obstructed (8).

Identification of chromosomal translocation hotspots via scan statistics.

Motivation: The detection of genomic regions unusually rich in a given pattern is an important undertaking in the analysis of next-generation sequencing data. Recent studies of chromosomal translocations in activated B lymphocytes have identified regions that are frequently translocated to c-myc oncogene. A quantitative method for the identification of translocation hotspots was crucial to this study.

ITP-QoL questionnaire for children with immune thrombocytopenia: Italian version validation's.

Background: The ITP-QoL is a disease-specific questionnaire for the assessment of health-related quality of life (HRQoL) in children with immune thrombocytopenia (ITP) and their parents. The aim of this study was to test the psychometric characteristics of the ITP-QoL in the Italian pediatric population in terms of validity and reliability.

Procedure: Children aged 8-16 years with acute or chronic ITP and their parents were recruited in Italy.

GammaKey system for improved diagnostics with gamma cameras.

We designed the GammaKey system for the acquisition, storage and analysis of images from semi-analogue gamma scintillation cameras (GSCs). The GammaKey system, operating on a standard PC, replicates the functionality of earlier dedicated computer systems, allows the exchange of data in the DICOM format and has an open architecture enabling the development of new diagnostic techniques. The main purpose of the GammaKey is to enable the continued use of old GSCs which have functional scintillation crystals, but also to permit data exchange with new digital GSCs.

Environmental radioactivity in southern Serbia at locations where depleted uranium was used.

In the 1999 bombing of the Federal Republic of Yugoslavia, NATO forces used ammunition containing depleted uranium. The cleaning of depleted uranium that followed was performed in southern Serbia by the Vinča Institute of Nuclear Sciences between 2002 and 2007 at the locations of Pljačkovica, Borovac, Bratoselce, and Reljan. This paper presents detailed results of radioactivity monitoring four years after cleaning (2011), which included the determination of gamma emitters in soil, water, and plant samples, as well as gross alpha and beta activities in water samples.

CA-125 of fetal origin can act as a ligand for dendritic cell-specific ICAM-3-grabbing non-integrin.

CA-125 (coelomic epithelium-related antigen) forms the extracellular portion of transmembrane mucin 16 (MUC16). It is shed after proteolytic degradation. Due to structural heterogeneity, CA-125 ligand capacity and biological roles are not yet understood.

Economic evaluation of treatment for acute lymphoblastic leukaemia in childhood.

Berlin-Frankfurt-Munster (BFM) and Dana-Farber Cancer Institute (DFCI) consortia's treatment strategies for acute lymphoblastic leukaemia (ALL) in children are widely used. We compared the health effects and monetary costs of hospital treatments for these two strategies. Parents of children treated at seven centres in Canada, Italy and the USA completed health-related quality of life (HRQL) assessments during four active treatment phases and at 2 years after treatment.

Evaluation of molecular species of prostate-specific antigen complexed with immunoglobulin M in prostate cancer and benign prostatic hyperplasia.

This study was aimed at defining molecular species of prostate-specific antigen (PSA) in immune complexes with immunoglobulin M (IgM). Having in mind the oligoreactivity of IgM and its preference for carbohydrate antigens, there is the possibility that it can selectively recognize known PSA glycoisoforms. PSA-IgM complexes and free PSA fractions were separated from the sera of subjects with prostate cancer (PCa) and benign prostatic hyperplasia (BPH) by gel filtration and subjected to on-chip immunoaffinity and ion-exchange chromatography.

Evaluation of Xpert MTB/RIF assay for rapid molecular diagnosis of tuberculosis in a two-year period in Croatia.

Mycobacterium tuberculosis remains a major global health problem and is currently killing 1.5 million people every year. One of the most important steps in tuberculosis control is the rapid and accurate laboratory diagnosis.

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.

Calcifications in the basal ganglia are a common incidental finding and are sometimes inherited as an autosomal dominant trait (idiopathic basal ganglia calcification (IBGC)). Recently, mutations in the PDGFRB gene coding for the platelet-derived growth factor receptor β (PDGF-Rβ) were linked to IBGC. Here we identify six families of different ancestry with nonsense and missense mutations in the gene encoding PDGF-B, the main ligand for PDGF-Rβ.

T follicular helper cell dynamics in germinal centers.

T follicular helper (T(FH)) cells are a specialized subset of effector T cells that provide help to and thereby select high-affinity B cells in germinal centers (GCs). To examine the dynamic behavior of T(FH) cells in GCs in mice, we used two-photon microscopy in combination with a photoactivatable fluorescent reporter. Unlike GC B cells, which are clonally restricted, T(FH) cells distributed among all GCs in lymph nodes and continually emigrated into the follicle and neighboring GCs.

The effects of propofol and ketamine on the cytokine levels of children with acute lymphoblastic leukemia.

The immune system of children with acute lymphoblastic leukemia (ALL) is affected by both the underlying disease and the chemotherapy. Children with ALL receive sedation for diagnostic and therapeutic procedures, which may contribute to immune competence alteration. The effects of propofol-ketamine combination on the immune system of children with ALL have not been investigated.