Search results for "eps"
showing 10 items of 1777 documents
De novo GRIN2A variants associated with epilepsy and autism and literature review
2021
N-methyl-D-aspartate receptors (NMDAR) are di- or tri-heterotetrameric ligand-gated ion channels composed of two obligate glycine-binding GluN1 subunits and two glutamate-binding GluN2 or GluN3 subunits, encoded by GRIN1, GRIN2A–D, and GRIN3A–B receptor genes respectively. Each NMDA receptor subtype has different temporal and spatial expression patterns in the brain and varies in the cell types and subcellular localization resulting in different functions. They play a crucial role in mediating the excitatory neurotransmission, but are also involved in neuronal development and synaptic plasticity, essential for learning, memory, and high cognitive functions. Among genes coding NMDAR subunits…
Giant subcutaneous lipomatosis in Myoclonic Epilepsy with Ragged Red Fibers syndrome: The first literature report of “laparoscopic” excision
2020
Background MERRF (Myoclonic Epilepsy with Ragged Red Fibers) is a rare multisystem clinical disorder due to a pathogenic variant of the mitochondrial DNA. Rare symptoms of MERRF include multiple systemic lipomatosis with symmetric uncapsulated lipomas occurs generally on the posterior cervical region and upper back. Methods We report the clinical case of a 46 years-old Caucasian man with MERRF syndrome who presented with MSL on the right cervical region. We decided to perform a mini-invasive approach using laparoscopic instruments. We performed a 10-mm incision about 5 cm under the mass and conducted a blunt dissection of the subcutaneous plane. Then we positioned a 10-mm port and started C…
Differential expression levels of urokinase-type plasminogen activator and cathepsin D in locally advanced laryngeal squamous cell carcinoma: Clinica…
2002
The expression levels and the prognostic impact of urokinase-type plasminogen activator (uPA) and cathepsin D (CD) were evaluated in patients with locally advanced laryngeal squamous cell carcinoma (LSCC). uPA and CD protein levels were determined by immunoluminometric or immunoenzymatic assays in the cytosol of paired sets of tumor tissues and corresponding adjacent normal mucosa (NLM) from 57 patients with stage III/IV LSCC and were correlated with a number of clinicobiological parameters of this tumor including anatomical site, tumor grade, nodal status, clinical stage, DNA ploidy, proliferation rate, and patient outcome. Median uPA levels were significantly higher in LSCC than in NLM (…
Modeling Atmospheric Turbulence via Rapid Distortion Theory: Spectral Tensor of Velocity and Buoyancy
2017
Abstract A spectral tensor model is presented for turbulent fluctuations of wind velocity components and temperature, assuming uniform vertical gradients in mean temperature and mean wind speed. The model is built upon rapid distortion theory (RDT) following studies by Mann and by Hanazaki and Hunt, using the eddy lifetime parameterization of Mann to make the model stationary. The buoyant spectral tensor model is driven via five parameters: the viscous dissipation rate ε, length scale of energy-containing eddies L, a turbulence anisotropy parameter , gradient Richardson number (Ri) representing the local atmospheric stability, and the rate of destruction of temperature variance . Model outp…
Closed foldable capsular rings
2004
A new foldable capsular tension and bending ring system with a sharp-edged design is described. The closed foldable capsular rings (CFCR) consist of 8 hydrophobic and 8 hydrophilic ring segments. The CFCRs have a 9.2 mm minimum overall diameter. The CFCRs were inserted using various cartridge systems or a two-folded technique with a forceps. The CFCRs were implanted after phacoemulsification through a small (1.6 to 3.2 mm) incision in 104 human adult eyes without intraoperative complications. No postoperative complications such as capsule folds or inward bending were observed over a 6-month follow-up. Posterior capsule opacification was minimal or absent in all eyes.
Serum leptin level as a diagnostic and prognostic marker in infectious diseases and sepsis: A comprehensive literature review.
2021
Abstract Background: Infections and sepsis are common causes of morbidity and mortality, with an increasing incidence worldwide. Leptin is involved in the inflammatory process and may modulate the cytokine production, immune cell proliferation and endothelial function. There are conflicting results regarding alterations of leptin levels in infectious diseases and the outcome from sepsis. The aim of the current article is to provide an overview of the medical literature on the correlations between variations of leptin levels and infectious diseases and sepsis. Methods: We performed an extensive literature search in PubMed and Google Scholar databases, using keywords to identify articles rela…
Malformations of Cortical Development and Neocortical Focus
2014
Abstract Developmental neocortical malformations resulting from abnormal neurogenesis, disturbances in programmed cell death, or neuronal migration disorders may cause a long-term hyperexcitability. Early generated Cajal–Retzius and subplate neurons play important roles in transient cortical circuits, and structural/functional disorders in early cortical development may induce persistent network disturbances and epileptic disorders. In particular, depolarizing GABAergic responses are important for the regulation of neurodevelopmental events, like neurogenesis or migration, while pathophysiological alterations in chloride homeostasis may cause epileptic activity. Although modern imaging tech…
First colonization of the genus Amphistegina and other alien benthic foraminifera in the Pelagian Islands and in the south-eastern Sicily (central Me…
2013
Identification, cloning and environmental factors modulation of a αβ defensin from the lessepsian invasive mussel Brachidontes pharaonis (Bivalvia: M…
2015
International audience; Immunological effectors of invasive species playing a role in addressing new colonization are still poorly studied. In the present study the cDNA sequence of the defensin from a Lessepsian invasive species, the Red Sea mussel Brachidontes pharaonis, was cloned using RACE method. Defensins are a class of widely known antimicrobial peptides (AMPs), oligopeptides with a broad spectrum of targeted organisms ranging from viruses to parasites. Analysis of BpDef sequence (262 bp) revealed the presence of an ORF coding for 81 amino acids. The full-length amino acid sequence showed the highest similarity to antimicrobial peptides MGD1 and MGD2 sequence from Mytilus galloprovi…