Search results for "NOAC"

Rotational spectra and hyperfine structure of isotopic species of deuterated cyanoacetylene, DC3N

2008

Abstract Cyanoacetylene enriched in deuterium was used to record pure rotational transitions of DC 3 N and its rare 13 C and 15 N isotopic species by employing Fourier transform microwave (FTMW) spectroscopy on a supersonic-jet expansion at centimeter wavelengths (8.2–25.4 GHz) and by using long-path absorption spectroscopy at millimeter and submillimeter wavelengths (82–900 GHz). In addition, submillimeter wave measurements (304–897 GHz) have been performed for DC 3 N in its v 7 = 1 lowest excited vibrational state. Hyperfine structure caused by the 14 N and D nuclei has been resolved in the FTMW spectra. Quantum-chemical calculations have been performed on the hyperfine structure paramete…

Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

2018

Abstract PHARC (Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa and Cataracts) (MIM# 612674 ) is an autosomal recessive neurodegenerative disease caused by mutations in the ABHD12 gene. We evaluated two Spanish siblings affected with pes cavus, sensorimotor neuropathy, hearing loss, retinitis pigmentosa and juvenile cataracts in whom the genetic test of ABHD12 revealed a novel homozygous frameshift mutation, c.211_223del (p.Arg71Tyrfs*26). The earliest clinical manifestation in these patients was a demyelinating neuropathy manifested with a Charcot-Marie-Tooth phenotype over three decades. Progressive hearing loss, cataracts and retinitis pigmentosa appeared after the age of 30. …

In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages

2010

Abstract Background In the recessive aminoaciduria Lysinuric Protein Intolerance (LPI), mutations of SLC7A7/y+LAT1 impair system y+L transport activity for cationic amino acids. A severe complication of LPI is a form of Pulmonary Alveolar Proteinosis (PAP), in which alveolar spaces are filled with lipoproteinaceous material because of the impaired surfactant clearance by resident macrophages. The pathogenesis of LPI-associated PAP remains still obscure. The present study investigates for the first time the expression and function of y+LAT1 in monocytes and macrophages isolated from a patient affected by LPI-associated PAP. A comparison with mesenchymal cells from the same subject has been a…

Association between M467T and 114 C--A variants within the SLC3A1 gene and some phenotypical traits in cystinuria patients from Spain.

2000

Cystinuria is an inherited metabolic disease characterized by an abnormal urinary excretion of cystine and dibasic amino acids. Formation of renal calculi, recurrent infections and renal failure are the main complications of this disease. The SLC3A1 gene, which codes for a dibasic amino acid transporter protein, is involved in the pathogenesis of cystinuria. We investigated the possible association between molecular variants (M467T, E483X, T216 M and 114 C--A) within the SLC3A1 gene and some phenotypical traits in a Spanish area. The study population consisted of 45 cystinuria patients, 42 cystinuria relatives and 81 healthy control subjects. Only the M467T mutation was found in chromosomes…

Three-year follow-up results of the prospective European Multicenter Cohort Study on Cyanoacrylate Embolization for treatment of refluxing great saph…

2021

Abstract Objective Cyanoacrylate closure of refluxing saphenous veins has demonstrated excellent safety and effectiveness results in feasibility and pivotal studies. This article provides the 36-month follow-up results of a prospective, multicenter, nonrandomized cohort study. Methods A total of 70 patients were enrolled in a prospective, multicenter study conducted at seven centers in four European countries and underwent treatment of a solitary refluxing great saphenous vein with endovenous cyanoacrylate embolization without the use of tumescent anesthesia or postprocedure compression stockings. The primary effectiveness end point was freedom from recanalization (closure rate) of the grea…

Synthesis, characterisation and complexation of di- and trifunctional hybrid ferrocenylphosphine ligands.

2020

Organometallic compounds with at least one metal-carbon bond are used in various fields of chemistry: for example, in medical research for anticancer treatments, in catalytic reactions as catalysts or ligands, in electrochemistry for their redox potentials, in materials chemistry for their optical and electronic properties. The principal family of organometallic compounds of this thesis is ferrocene due to its physical and chemical properties particularly its robustness and the possibility of multiple substitutions on cyclopentadienyl ligands, the dissymmetric functionalization of these cyclopentadienyl rings being a major challenge.The first part of this thesis describes the bibliography o…

A NEW DOPAMINE-AMINOACID CONJUGATE: SYNTHESIS AND DETERMINATION OF PHYSICO-CHEMICAL PROPERTIES USEFUL TO CROSS THE BBB

2012

Determination of nitrite by inhibition of the chemiluminescence of acriflavine in a flow-injection assembly

2001

The indirect determination of nitrite was performed with a flow-injection assembly on the basis of the inhibition of the analytical output obtained in a luminometer by oxidation of acriflavine. The acriflavine solution merged with the nitrite and the resulting mixture was injected into a pure water stream. This solution merged with the oxidant solution (potassium permanganate in sulfuric acid medium) and the resulting chemiluminiscence was affected (inhibited) by the presence of nitrite after reaction with the aminoacridine. The method was applicable over the range 10–800 μg l−1 of nitrite with a correlation coefficient of 0.9960. The relative standard deviation was 1.4% and the throughput …

Amminoacidi e proteine

2020

Le proteine sono macromolecole che svolgono svariate e importanti funzioni sia dinamiche che strutturali all’interno degli organismi viventi. Le funzioni dinamiche comprendono la catalisi enzimatica, il trasporto, il controllo metabolico e la contrazione. Dal punto di vista strutturale, le proteine sono componenti fondamentali del tessuto muscolare, connettivo e della matrice delle ossa. Tutte le proteine sono polimeri non ramificati formati dalla combinazione di soli 20 diversi amminoacidi, detti proteici, uniti tra loro tramite il legame peptidico. La vasta gamma di attività che possono svolgere le proteine dipende proprio dalla loro composizione amminoacidica variabile. Lo studio delle p…

Field desorption mass spectrometric characterization of thiol conjugates related to the oxidative metabolism of the anticancer drug 4′-(9-acridinylam…

1983

Conjugation products with glutathione (GSH) and other endogenous thiol derivatives related to the oxidative metabolism of the anticancer drug, 4′-(9-acridinlyamino) methanesulfon-m-anisidide (m-AMSA) were synthesized and characterized by field desorption mass spectrometry. The primary microsomal oxidation product of m-AMSA, m-AQDI, was prepared by MnO2 oxidation of the parent drug and reacted with equimolar GSH, cysteine, N-acetylcysteine and N-acetylcysteine methyl ester to form m-AMSA-(5′)-thiol conjugates linkedat the aniline ring, as major products. Field desorption mass spectra of the conjugates provided abundant [MH]plus; ions, and characteristic fragment ions by cleavage at the thioe…