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Folia Neuropathologica

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https://www.readbyqxmd.com/read/28139824/pyramidal-signs-in-a-caucasian-patient-with-spinal-muscular-atrophy-a-case-report
#1
Yu Wan, Jun Zhang
Spinal muscular atrophy (SMA), an autosomal recessive disease, is characterized by the selective loss of spinal motor neurons due to reduced levels of the survival motor neuron (SMN) protein. The clinical symptoms of SMA are progressive proximal muscle weakness and paralysis. Here we describe a 20-year-old Turkmenistan male with SMA who presented with uncommon pathological reflexes and asymmetric onset of weakness. The diagnosis after genetic analysis revealed a homozygous deletion of SMN1 exons seven and eight...
2016: Folia Neuropathologica
https://www.readbyqxmd.com/read/28139823/double-origin-of-the-superior-cerebellar-artery-associated-with-homolateral-haemorrhagic-infarction-of-cerebellum
#2
Andrea Porzionato, Veronica Macchi, Luca Massaro, Aldo Morra, Gloria Sarasin, Anna Rambaldo, Raffaele De Caro
The superior cerebellar artery (SCA) shows the least variable course and the lowest incidence of anatomical variations among cerebellar arteries. In the present study, an 84-year-old woman was affected by a cerebellar infarction which underwent haemorrhagic evolution in the following days. Neuroimaging investigations also showed a probable double origin of the left SCA. Neuropathological examination confirmed the presence of a large haemorrhagic infarction at the level of the superior portion of the left cerebellar hemisphere and vermis...
2016: Folia Neuropathologica
https://www.readbyqxmd.com/read/28139822/bilateral-striatal-necrosis-caused-by-adar-mutations-in-two-siblings-with-dystonia-and-freckles-like-skin-changes-that-should-be-differentiated-from-leigh-syndrome
#3
Dorota Piekutowska-Abramczuk, Hanna Mierzewska, Monika Bekiesińska-Figatowska, Elżbieta Ciara, Joanna Trubicka, Maciej Pronicki, Dariusz Rokicki, Małgorzata Rydzanicz, Rafał Płoski, Ewa Pronicka
Pathogenic molecular variants in the ADAR gene are a known cause of rare diseases, autosomal recessive Aicardi- Goutières syndrome type 6, severe infantile encephalopathy with intracranial calcifications and dominant dyschromatosis symmetrica hereditaria, demonstrated mainly in Asian adults. Recently, they have been also found in patients with nonsyndromic bilateral striatal necrosis accompanied by skin changes of the freckles-like type. Here, we present Polish siblings with acute onset and slowly progressive extrapyramidal syndrome with preserved intellectual abilities and basal ganglia changes found in MRI...
2016: Folia Neuropathologica
https://www.readbyqxmd.com/read/28139821/nanofiber-mat-spinal-cord-dressing-released-glutamate-impairs-blood-spinal-cord-barrier
#4
Dorota Sulejczak, Anna Taraszewska, Stanisław J Chrapusta, Dorota Dziewulska, Paweł Nakielski, Janina Rafałowska
An excessive glutamate level can result in excitotoxic damage and death of central nervous system (CNS) cells, and is involved in the pathogenesis of many CNS diseases. It may also be related to a failure of the blood-spinal cord barrier (BSCB). This study was aimed at examining the effects of extended administration of monosodium glutamate on the BSCB and spinal cord cells in adult male Wistar rats. The glutamate was delivered by subarachnoidal application of glutamate-carrying electrospun nanofiber mat dressing at the lumbar enlargement level...
2016: Folia Neuropathologica
https://www.readbyqxmd.com/read/28139820/protective-role-of-dexmedetomidine-in-unmethylated-cpg-induced-inflammation-responses-in-bv2-microglia-cells
#5
Chen Chen, Yanning Qian
Unmethylated CpG DNA, as a stimulatory molecule, has potent pro-inflammatory effects in the central nervous system (CNS). Dexmedetomidine (DEX) has been confirmed to exert anti-inflammatory effects in CNS. Our study was aimed to explore the effects of DEX on tumor necrosis factor-α (TNF-α) expression in unmethylated CpG DNA-challenged microglia. In vivo, after 3 d intracisternal injection of ODN1668, we evaluated the severity of meningitis with or without DEX via pathobiology method and detected the expression of TNF-α from molecular and protein levels...
2016: Folia Neuropathologica
https://www.readbyqxmd.com/read/28139819/disturbed-integrin-expression-in-the-vascular-media-in-cadasil
#6
Dorota Dziewulska, Ewelina Nycz
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is an inherited angiopathy characterized by degeneration and loss of vascular smooth muscle cells (VSMCs) of still unknown pathomechanism. Many functions of VSMCs, such as adhesion, apoptosis, contraction, differentiation, migration, and proliferation are determined by integrins - surface adhesion receptors involved in binding and interactions between cells and extracellular matrix (ECM). Since integrins play such an important role in VSMCs biology, disturbances in their expression may influence myocytes behavior and fate in CADASIL...
2016: Folia Neuropathologica
https://www.readbyqxmd.com/read/28139818/combined-use-of-biochemical-and-volumetric-biomarkers-to-assess-the-risk-of-conversion-of-mild-cognitive-impairment-to-alzheimer-s-disease
#7
Marta Nesteruk, Tomasz Nesteruk, Maria Styczyńska, Monika Mandecka, Anna Barczak, Maria Barcikowska
INTRODUCTION: The aim of our study was to evaluate the usefulness of several biomarkers in predicting the conversion of mild cognitive impairment (MCI) to Alzheimer's disease (AD): β-amyloid and tau proteins in cerebrospinal fluid and the volumetric evaluation of brain structures including the hippocampus in magnetic resonance imaging (MRI). MATERIAL AND METHODS: MRI of the brain with the volumetric assessment of hippocampus, entorhinal cortex, posterior cingulate gyrus, parahippocampal gyrus, superior, medial and inferior temporal gyri was performed in 40 patients diagnosed with mild cognitive impairment...
2016: Folia Neuropathologica
https://www.readbyqxmd.com/read/28139817/alzheimer-s-amyloid-%C3%AE-peptide-disturbs-p2x7-receptor-mediated-circadian-oscillations-of-intracellular-calcium
#8
Anna Wilkaniec, Karen Schmitt, Amandine Grimm, Joanna B Strosznajder, Anne Eckert
Recent data indicate that Alzheimer's disease (AD) is associated with disturbances of the circadian rhythm in patients. We examined the effect of amyloid-β (Aβ) peptide, the main component of the senile plaques playing a critical role in the deregulation of calcium (Ca<sup>2+</sup>) homeostasis in AD, on the circadian oscillation of cytosolic calcium (Ca<sup>2+</sup>) levels <i><i>in vitro</i></i>. The experiments we carried out in human primary skin fibroblasts...
2016: Folia Neuropathologica
https://www.readbyqxmd.com/read/28139816/micrornas-as-efficient-biomarkers-in-high-grade-gliomas
#9
REVIEW
Anna-Maria Barciszewska
High-grade gliomas are the most aggressive and devastating brain neoplasms. Therefore much effort is put on understanding their background as well as development of new effective diagnostic and therapeutic methods. However, until now the genetic only approach has not provided a satisfactory answer. Recently, it has been shown that the epigenetic issue is important for high-grade gliomas' development and progression. Out of many epigenetic mechanisms, as DNA methylation, histone methylation and acetylation, especially microRNAs showed to be deeply involved in the carcinogenesis process...
2016: Folia Neuropathologica
https://www.readbyqxmd.com/read/28105629/appendix-to-the-abstracts-of-the-joint-conference-the-13th-international-symposium-molecular-basis-of-pathology-and-therapy-in-neurological-disorders-and-the-4th-international-conference-stem-cells-therapeutic-outlook-for-central-nervous-system-disorders
#10
https://www.readbyqxmd.com/read/28105628/polish-french-scientific-conference-alzheimer-s-disease-and-neurodegenerative-disorders-what-challenges-for-tomorrow
#11
(no author information available yet)
No abstract text is available yet for this article.
2016: Folia Neuropathologica
https://www.readbyqxmd.com/read/27764522/combination-of-acid-phosphatase-positivity-and-rimmed-vacuoles-as-useful-markers-in-the-diagnosis-of-adult-onset-pompe-disease-lacking-specific-clinical-and-pathological-features
#12
C Dolfus, J-P Simon, G Landemore, F Leroy, F Chapon
INTRODUCTION: The clinical and histological presentations of the adult form of Pompe disease may be atypical. In such cases, identifying histological signs that point to the diagnosis would be crucial to avoid a delay in care. The aim of our study was to investigate the presence of rimmed vacuoles and acid phosphatase positivity in muscle biopsies of patients with late-onset Pompe disease. MATERIAL AND METHODS: We retrospectively studied muscle biopsies of all cases of the adult form of Pompe disease diagnosed at the University Hospital of Caen...
2016: Folia Neuropathologica
https://www.readbyqxmd.com/read/27764521/fahr-s-syndrome-and-clinical-correlation-a-case-series-and-literature-review
#13
M Pistacchi, M Gioulis, F Sanson, S M Marsala
INTRODUCTION: Fahr's disease is characterized by bilateral calcium deposition within the basal ganglia, cerebellar dentate nucleus and subcortical brain white matter. The main clinical manifestations are rigid or hyperkinetic syndrome, mood disorders and cognitive impairment. The correlation between neurological impairment and symmetrical basal ganglia calcification is not so frequent. Aim of the study was to report the results of neurological assessment of three sporadic cases of Fahr's disease highlighting a correlation between the clinical syndrome and neuroimaging...
2016: Folia Neuropathologica
https://www.readbyqxmd.com/read/27764520/warburg-micro-syndrome-type-1-associated-with-peripheral-neuropathy-and-cardiomyopathy
#14
D Kabzińska, H Mierzewska, J Senderek, A Kochański
The Warburg micro syndrome (WARBM) is a genetically heterogeneous syndrome linked to at least 4 loci. At the clinical level, WARBM is characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, corpus callosum hypoplasia, severe mental retardation, and hypogonadism. In some families additional clinical features have been reported. The presence of uncommon clinical features (peripheral neuropathy, cardiomyopathy) may result in misdirected molecular diagnostics. Using the next generation sequencing approach (NGS), we were able to diagnose WARBM1 syndrome by detection of a new mutation within the RAB3GAP1 gene...
2016: Folia Neuropathologica
https://www.readbyqxmd.com/read/27764519/protective-effects-of-peel-and-seed-extracts-of-citrus-aurantium-on-glutamate-induced-cytotoxicity-in-pc12-cell-line
#15
A Hosseini, H R Sadeghnia, A Rajabian
Oxidative stress and apoptosis contribute to neuronal degeneration in many neurodegenerative diseases such as Alzheimer's disease. Glutamate is a major excitatory neurotransmitter in the central nervous system (CNS) and is considered responsible for the pathogenesis of many neurological disorders. Reactive oxygen species (ROS) production is thought to be involved in glutamate-induced apoptosis process. In this study, the neuroprotective effects of Citrus aurantium in the glutamate-induced rat's adrenal pheochromocytoma cell line (PC12 cells) were investigated...
2016: Folia Neuropathologica
https://www.readbyqxmd.com/read/27764518/administration-of-vitamin-d3-induces-cnpase-and-myelin-oligodendrocyte-glycoprotein-expression-in-the-cerebral-cortex-of-the-murine-model-of-cuprizone-induced-demyelination
#16
F Mashayekhi, Z Salehi
In the central nervous system (CNS) the main proteins of myelin are proteolipid protein (PLP), myelin basic protein (MBP), myelin oligodendrocyte glycoprotein (MOG) and CNPase. Myelin oligodendrocyte glycoprotein is a minor component of the myelin sheath, but is an important autoantigen linked to the pathogenesis of multiple sclerosis (MS). CNPase is expressed exclusively by oligodendrocytes in the CNS, and the appearance of CNPase seems to be one of the earliest events of oligodendrocyte differentiation and myelination...
2016: Folia Neuropathologica
https://www.readbyqxmd.com/read/27764517/effect-of-recombinant-lactococcus-lactis-producing-myelin-peptides-on-neuroimmunological-changes-in-rats-with-experimental-allergic-encephalomyelitis
#17
K Kasarełło, A Szczepankowska, B Kwiatkowska-Patzer, A W Lipkowski, R Gadamski, D Sulejczak, M Łachwa, M Biały, J Bardowski
Multiple sclerosis (MS) is a human autoimmune neurodegenerative disease with an unknown etiology. Despite various therapies, there is no effective cure for MS. Since the mechanism of the disease is based on autoreactive T-cell responses directed against myelin antigens, oral tolerance is a promising approach for the MS treatment. Here, the experiments were performed to assess the impact of oral administration of recombinant Lactococcus lactis producing encephalogenic fragments of three myelin proteins: myelin basic protein, proteolipid protein, and myelin oligodendrocyte glycoprotein, on neuroimmunological changes in rats with experimental allergic encephalomyelitis (EAE) - an animal model of MS...
2016: Folia Neuropathologica
https://www.readbyqxmd.com/read/27764516/characteristics-of-the-expression-of-kai1-cd82-and-pdgfr%C3%AE-and-their-impact-on-glioma-progression
#18
M Paradowski, M Bilinska, J Bar
The biological features of glioma cells may define their clinical outcome. Little is known about the interactions between KAI1/CD82 metastatic suppressor protein and PDGFR in gliomas. The aim of the study was to examine KAI1/CD82 and PDGFR expression in gliomas in order to find the impact of these proteins on progression of the tumors. PDGFR, KAI1/CD82 protein expression and mRNA of genes were evaluated on eighty four paraffin-embedded tissue of gliomas using immunohistochemical staining and RT-PCR analysis...
2016: Folia Neuropathologica
https://www.readbyqxmd.com/read/27764515/5-aminolevulinic-acid-mediated-sonosensitization-of-rat-rg2-glioma-cells-in-vitro
#19
K Bilmin, T Kujawska, W Secomski, A Nowicki, P Grieb
Sonodynamic therapy (SDT) is a promising technique based on the ability of certain substances, called sonosensitizers, to sensitize cancer cells to non-thermal effects of low-energy ultrasound waves, allowing their destruction. Sonosensitization is thought to induce cell death by direct physical effects such as cavitation and acoustical streaming as well as by complementary chemical reactions generating oxygen free radicals. One of the promising sonosensitizers is 5-aminolevulinic acid (ALA) which upon selective uptake by cancer cells is metabolized and accumulated as protoporphyrin IX...
2016: Folia Neuropathologica
https://www.readbyqxmd.com/read/27764514/sirtuins-and-their-interactions-with-transcription-factors-and-poly-adp-ribose-polymerases
#20
H Jęśko, R P Strosznajder
Sirtuins (SIRT1 to -7) are unique histone deacetylases (HDACs) whose activity depends on NAD+, thus making them capable of sensing the cellular metabolic status. Sirtuins orchestrate the stress response and damage repair, and are able to modulate the course of ageing and neurodegenerative diseases. Despite their classification as HDACs, sirtuins deacetylate a vast number of targets in many cellular compartments, and some display additional enzymatic activities including mono(ADP-ribosyl)ation. SIRTs interact with multiple signalling proteins, transcription factors and enzymes including p53, FOXOs (forkhead box subgroup O), PPARs (peroxisome proliferator-activated receptors), NF-B, and DNA-PK (DNA-dependent protein kinase)...
2016: Folia Neuropathologica
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