Neuroblastoma Occurring in Nijmegen Breakage Syndrome.

Nijmegen breakage syndrome (NBS) is a rare primary immunodeficiency disease due to a pathogenic variant in the NBN gene causing impaired DNA repair and increased predisposition for lymphoid malignancy. By contrast, solid tumors have been rarely reported. Neuroblastoma (NB) is a rare childhood solid tumor, associated with the worse outcome if MYCN oncogene is amplified.

The Effect of Static Magnetic Fields of Different Strengths and Polarities on Cytokine Production by Human Lymphocytes In Vitro.

In contrast to electromagnetic fields, static magnetic fields (SMFs) have not been extensively studied in terms of their potential health consequences. Although upward- and downward-oriented magnetic poles may cause various biological effects, only the pole with the upward orientation has been mainly investigated. Considering that the interaction of antigen-presenting cells (APCs) and T lymphocytes is crucial to trigger an immune response, we assessed the effect of long-term exposure of human T lymphocytes and dendritic cells (DCs) to moderate strength SMFs of different orientations focusing on the cytokine profile of activated T cells.

Distinct fatty acid redistribution and textural changes in the brain tissue upon the static magnetic field exposure.

We observed different outcomes upon the subacute exposure to the 128 mT highly homogeneous static magnetic field (SMF) when its orientation was (i) aligned with the vertical component of the geomagnetic field; (ii) in the opposite direction. We employed the fatty acids (FA) composition and digital image analyses (DIA) to provide insights into the underlying processes and examine the possible weak SMF effects. Swiss-Webster male mice were whole-body exposed for 1 h/day over five days.

Biomagnetic Priming-Possible Strategy to Revitalize Old Mustard Seeds.

Different priming methods were developed to improve seed germination and the early growth of seedlings. This study aimed to examine the combined effect of bacterial inoculation and static magnetic field on white mustard (Sinapis alba L.) germination.

Premutations in the FMR1 gene in Serbian patients with undetermined tremor, ataxia and parkinsonism.

: Although one of the most common monogenic late-onset neurodegenerative disorders, fragile-X-associated tremor/ataxia syndrome (FXTAS) is still underdiagnosed. The aim of the present study was to estimate the frequency of premutation carriers in patients with unexplained degenerative ataxias, action tremor or parkinsonism, and action tremor with or without associated cognitive impairment.: The study comprised 100 consecutive patients with the disease onset >49 years who had any form of unexplained action tremor, cerebellar ataxia, followed by parkinsonism with or without incipient dementia, and in whom the repeats size was determined.

Modulation of rat synaptosomal ATPases and acetylcholinesterase activities induced by chronic exposure to the static magnetic field.

Purpose: It is considered that exposure to static magnetic fields (SMF) may have both detrimental and therapeutic effect, but the mechanism of SMF influence on the living organisms is not well understood. Since the adenosine triphosphatases (ATPases) and acetylcholinesterase (AChE) are involved in both physiological and pathological processes, the modulation of Na/K-ATPase, ecto-ATPases and AChE activities, as well as oxidative stress responses were followed in synaptosomes isolated from rats after chronic exposure toward differently oriented SMF.

Material And Methods: Wistar albino rats were randomly divided into three experimental groups (six animals per group): Up and Down group - exposed to upward and downward oriented SMF, respectively, and Control group.

Analysis of methods commonly used in biomedicine for treatment versus control comparison of very small samples.

Background And Objective: A rough estimate indicated that use of samples of size not larger than ten is not uncommon in biomedical research and that many of such studies are limited to strong effects due to sample sizes smaller than six. For data collected from biomedical experiments it is also often unknown if mathematical requirements incorporated in the sample comparison methods are satisfied.

Methods: Computer simulated experiments were used to examine performance of methods for qualitative sample comparison and its dependence on the effectiveness of exposure, effect intensity, distribution of studied parameter values in the population, and sample size.

Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature.

Background: Patients with Angelman syndrome (AS) are affected by severe intellectual disability with absence of speech, distinctive dysmorphic craniofacial features, ataxia and a characteristic behavioral phenotype. AS is caused by the lack of expression in neurons of the UBE3A gene, which is located in the 15q11.2-q13 imprinted region.

Influence of 340 mT static magnetic field on germination potential and mid-infrared spectrum of wheat.

In a number of studies, a static magnetic field was observed to positively influence the growing process of various plants; however, the effect has not yet been related to possible structural changes. We investigate if the static magnetic field that improves germination of wheat also alters wheat's near-infrared spectrum. Two groups of seeds were exposed to 340 mT for 16 h cumulatively.

Subchronic exposure to static magnetic field differently affects zinc and copper content in murine organs.

Purpose: Static magnetic fields (SMF) have been widely used in research, medicine and industry. Since zinc and copper play an important role in biological systems, we studied the effects of the subchronic continuous SMF exposure on their distribution in murine tissues.

Materials And Methods: For 30 days, mice were exposed to inhomogeneous, vertical, downward or upward oriented SMF of 1 mT averaged intensity with spatial gradient in vertical direction.

Homogeneous static magnetic field of different orientation induces biological changes in subacutely exposed mice.

It has been shown that static magnetic field (SMF) of moderate intensity produces considerable impact on biological systems. SMF can be homogeneous or inhomogeneous. In many studies, inhomogeneous SMF was employed.

Chromosomal instability in patients with Fanconi anemia from Serbia.

Background/aim: Fanconi anemia (FA) is a rare hereditary disease in a heterogeneous group of syndromes, so-called chromosome breakage disorders. Specific hypersensitivity of its cells to chemical agents, such as diepoxybutane (DEB), was used as a part of screening among patients with clinical suspicion of FA. The aim of this study was to determine chromosomal instability in patients with FA symptoms in Serbia.

Complex small supernumerary marker chromosomes - an update.

Background: Complex small supernumerary marker chromosomes (sSMC) constitute one of the smallest subgroups of sSMC in general. Complex sSMC consist of chromosomal material derived from more than one chromosome; the best known representative of this group is the derivative chromosome 22 {der(22)t(11;22)} or Emanuel syndrome. In 2008 we speculated that complex sSMC could be part of an underestimated entity.

Ten years of experience in molecular prenatal diagnosis and carrier testing for spinal muscular atrophy among families from Serbia.

Objective: To describe 10 years of experience of prenatal analysis of spinal muscular atrophy (SMA).

Methods: Data were retrospectively evaluated from prenatal analysis and carrier screening among parents and close relatives between January 2003 and December 2012. Screening was done before the parents were offered prenatal diagnosis.

Hematological parameters' changes in mice subchronically exposed to static magnetic fields of different orientations.

Static magnetic fields (SMFs) are time independent fields whose intensity can be spatially dependent. This study investigates influence of subchronic continuous exposure to upward and downward directed SMF on hematological parameters and spleen cellularity in mice. The experiment is performed on the Northern hemisphere; consequently, the vertical component of geomagnetic field is directed downward.

Diagnosis of Fanconi's Anemia by Diepoxybutane Analysis in Children from Serbia.

The high sensitivity of Fanconi's anemia (FA) cells to drug induced DNA interstrand crosslinks (ICL) such as diepoxybutane (DEB) was used as a part of FA screening in the children with clinical suspicion of FA. The study considered a total of 66 children with the hematological and/or congenital phenotypic symptoms reminiscent of FA. Blood samples from patients with clinical suspicion of FA and controls were collected for chromosome fragility evaluation by the DEB test.

Lower incidence of deletions in the survival of motor neuron gene and the neuronal apoptosis inhibitory protein gene in children with spinal muscular atrophy from Serbia.

Spinal muscular atrophy (SMA) is the second most frequent autosomal recessive disease characterized by degeneration of the anterior horn cells of the spinal cord, leading to muscular atrophy. SMA is classified into three types according to disease severity and age-onset: severe (type I), intermediate (type II) and mild (type III). Deletions in the survival motor neuron (SMN) gene, located in the chromosome region 5q11.

Successful treatment of hodgkin lymphoma in nijmegen breakage syndrome.

Nijmegen breakage syndrome (NBS) is a rare DNA repair disorder characterized by microcephaly, immunodeficiency, and predisposition to malignancy. We report on a 5-year-old patient with NBS who presented with nodular sclerosing type of Hodgkin disease stage IVB. Chemotherapy consisting of COPP/ABV regimen with reduction at 75% of full doses was employed.

[Diagnosis of subarachnoid hemorrhage].

Objectives And Methods: A total of 115 patients with subarachnoid hemorrhage were retrospectively analyzed with the aim to evaluate the timing and reliability of the applied diagnostic procedures. In the group of 63 patients the reliability of CT as the diagnostic procedure was investigated, and CT scan was correlated with the clinical status of the respective patient. In the group of 79 patients with operatively treated cerebral aneurysm the angiographic and intraoperative findings were mutually compared and discrepancies were analyzed.

Brainstem auditory evoked potentials following head injury.

Brainstem auditory evoked potentials (BAEP) were examined in 40 patients with subjective disorders following closed head injury (CHI), with the established degree of recovery and performed CT-scan of the head. For all BAEP parameters the interval of normality was defined as 3 SD above and below mean value in the control group comprised of 20 healthy subjects. The upper limits of thus defined intervals of normality enabled the formation of four types of findings: type 1--normal finding that was registered in 23 (57.

[Magnetic resonance findings and cerebrospinal fluid parameters in the evaluation of blood-brain barrier status and multiple sclerosis activity].

The diagnosis of disseminated demyelinating disease of central nervous system (DDD CNS) was established on clinical criteria, cerebrospinal fluid (CSF) analyses, electrophysiological and neuro-radiological examinations. The aim of this investigation was to perform an analysis of the state of blood-brain barrier and activity of demyelinating process in the patients, by the comparison of CSF findings and results of magnetic resonance (MR) examinations using paramagnetic contrast. Investigations were performed in 30 patients with DDD CNS in the phase of clinical impairment, without immunosuppressive/immunomodulatory therapy in the last 3 months.

[Carotid-cavernous fistula with spontaneous remission].

Carotid-cavernous fistulas (CCF) represent the complication of traumatic injuries mostly of bone structures of skull base and face, and rarely of soft neck tissues with the fast development of the shunt and imperiled hemodynamics that in a short time endangers the patient for the increase of intracranial mass. The therapy of this clinical entity significantly changed in the last few years. In this report, we present the case of spontaneous CCF healing with the complete restitution of neurological deficit and CCF healing in control angiographies.