N-type voltage-gated calcium channel controls the release of neurotransmitters from neurons. The association of other voltage-gated calcium channels with epilepsy is well-known. The association of N-type voltage-gated calcium channels and pain has also been established.
View Article and Find Full Text PDFEpilepsy is a neurological disorder that affects more than 50 million people. Its etiology is unknown in approximately 60% of cases, although the existence of a genetic factor is estimated in about 75% of these individuals. Hundreds of genes involved in epilepsy are known, and their number is increasing progressively, especially with next-generation sequencing techniques.
View Article and Find Full Text PDFIn this work, we study the electrochemical oxidation of methyl red, a dye present in textile industrial effluents, which is selected as the model for the degradation of Contaminants of Emerging Concern. The influence of the initial pollutant concentration (1-5 mg dm), applied current density (2-15 mA cm), and the coupling of ultraviolet or ultrasound radiation have been studied using a titanium plate as anode. The results show that electrochemical oxidation is able to efficiently remove methyl red, and the process efficiency decreases with the initial pollutant concentration.
View Article and Find Full Text PDFThe integration of genetic information in current clinical routine has raised a need for tools to exploit family genetic knowledge. On the clinical side, an application for managing and visualizing pedigree diagrams could provide genetics specialists with an integrated environment with potential positive impact on their current practice. This article presents a web tool (genoDraw) that provides clinical practitioners with the ability to create, maintain and visualize patients' and their families' information in the form of pedigree diagrams.
View Article and Find Full Text PDFThis work presents the results of a treatment process of municipal solid waste incineration (MSWI) fly ash using a solution of sodium carbonate as a stabilizing agent. The effectiveness of the treatment was evaluated by means of leaching test for waste characterization according to European Standard, with special focus on soluble chlorides and heavy metals (Zn, Cd, Pb and Cu). Chemical, XRD and DTA/DTG analysis were used to gain insight into the chemical changes induced in the fly ash by the treatment.
View Article and Find Full Text PDFThe influence of particle size in both the structure and thermochromic behavior of 4H-SrMnO3 related perovskite is described. Microsized SrMnO3 suffers a structural transition from hexagonal (P63/mmc) to orthorhombic (C2221) symmetry at temperature close to 340 K. The orthorhombic distortion is due to the tilting of the corner-sharing Mn2O9 units building the 4H structural type.
View Article and Find Full Text PDFClin Dysmorphol
July 2012
Objectives: Redirect demand pathology severity level IV-V of the hospital emergency room (ED) to the Primary Health Care (AP) reference, increase in technical consultation and assess the effectiveness of the proposed Accessibility Plan (PA). Improving the quality of care offered, lowering the cost to achieve it.
Design: Quality research study conducted in January-2010 data collected throughout 2009, and compare them versus those obtained in 2008.
Mutations of the ataxia-telangiectasia-mutated (ATM) gene are responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T). This study reports the first A-T prenatal diagnosis performed in Spain by direct molecular analysis. The pregnant woman had a previous child suffering from A-T due to a deletion in the ATM gene.
View Article and Find Full Text PDFBackground: The incidence of chromosomal anomalies in patients with short stature (SS) was studied in order to determine the value of routine karyotyping in this population.
Methods: This study was a retrospective evaluation of 972 patients (719 females and 253 males) with SS. Chromosomal analysis was performed on cultured peripheral lymphocytes.