Medium-Chain Acyl-CoA Dehydrogenase Deficiency in an Infant with Dilated Cardiomyopathy

We report about an infant affected by dilated cardiomyopathy (CMP) in whom metabolic investigations evidenced medium-chain-acyl-CoA dehydrogenase deficiency (MCADD), that is one of three types of inherited disorders of mitochondrial fatty-acid β-oxidation. Long-chain and very long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficits are recognized as responsible of hypertrophic or, less frequently, dilated cardiomyopathy (CMP) in childhood. Otherwise, to our knowledge, no case of MCADD associated to dilated CMP has been reported in literature

Photocatalityc membrane reactor for CO2 conversion

Global warming is considered to be one of the principal environmental problems and CO2, being a greenhouse gas, largely contributes to the global climate change. Owing to this problem, an increasing concern has brought the scientific community to devote huge efforts towards CO2 reduction and/or valorization through a sustainable process. In this contest, photocatalytic membrane technologies can be a promising and innovative way to pursue CO2 conversion into value-added products.1 To this purpose, Carbon Nitride (C3N4) photocatalyst was prepared and characterized by FTIR and IR-ATR, DRS and XRD analyses. The preliminary reactivity experiments were carried out in a batch reactor (V = 120 mL) filled with humid CO2 and irradiated in a solar box (65°C). CH4 and CO were the main reduction products detected. This catalyst was then dispersed to obtain catalytic mixed matrix Nafion membranes. Comprehensive structural and morphological analyses by DRS, FT-IR, ATR-IR, SEM and N2 and CO2 permeability measurements were performed. The photocatalytic membranes were then used for the same reaction under UV-Vis irradiation in a membrane reactor operating in continuous mode, as already done with TiO2-Nafion catalytic membranes2. Different H2O/CO2 molar ratios and residence times were used. MeOH, EtOH and HCHO were the main products detected. Under the best experimental conditions, methanol and ethanol were identified as the main products with a productivity of 23 and 25 mol g-1 h-1, respectively. References. 1. R. Molinari, A. Caruso, L. Palmisano, Photocatalytic Membrane reactor in the conversion or degradation of organic compounds, in E. Drioli et L. Giorno (Eds.) Membrane Operations, innovative Separation and transformations, Chapter 15, 335-361, 2009, Wiley-Vch Verlag GmbH & Co. KGaA, Weinheim (Germany). 2. M. Sellaro, M. Bellardita, A. Brunetti, E. Fontananova, L. Palmisano, E. Drioli, G. Barbieri, “CO2 conversion in a photocatalytic continuous membrane reactor”, RSC Advances, 2016, 6, 67418 – 67427

Catalytic Dehydration of Fructose to 5-Hydroxymethylfurfural in Aqueous Medium over Nb2O5-Based Catalysts

The catalytic dehydration of fructose to 5-hydroxymethylfurfural (HMF) in water was performed in the presence of pristine Nb2O5 and composites containing Nb and Ti, Ce or Zr oxides. In all experiments, fructose was converted to HMF using water as the solvent. The catalysts were characterized by powder X-ray diffraction, scanning electron microscopy, N2 physical adsorption, infrared and Raman spectroscopy and temperature-programmed desorption of NH3. Experimental parameters such as fructose initial concentration, volume of the reacting suspension, operation temperature, reaction time and amount of catalyst were tuned in order to optimize the catalytic reaction process. The highest selectivity to HMF was ca. 80% in the presence of 0.5 g\ub7L 121 of bare Nb2O5, Nb2O5-TiO2 or Nb2O5-CeO2 with a maximum fructose conversion of ca. 70%. However, the best compromise between high conversion and high selectivity was reached by using 1 g\ub7L 121 of pristine Nb2O5. Indeed, the best result was obtained in the presence of Nb2O5, with a fructose conversion of 76% and a selectivity to HMF of 75%, corresponding to the highest HMF yield (57%). This result was obtained at a temperature of 165\ub0 in an autoclave after three hours of reaction by using 6 mL of 1 M fructose suspension with a catalyst amount equal to 1 g\ub7L 121

Different Cardiac Anomalies in Mother and Son with 4q-Syndrome

We report a female patient with asymptomatic cor triatriatum sinister, associated with 4q34.3 deletion. Her child, carrying the same imbalance, suffers from tetralogy of Fallot. To the best of our knowledge, this is the first reported case of cor triatriatum associated with deletion of the long arm of the chromosome 4; furthermore, the majority of patients with chromosome 4 long arm syndrome have de novo deletions and only few familial cases have been reported so far

Mitral regurgitation due to caseous calcification of the mitral annulus: two case reports

Caseous calcification is a rare variant of mitral annular calcification, occurring in about 0.06% of echocardiographic studies performed. It is usually a benign lesion, but it should be differentiated by abscess and tumors. Echocardiography is the most sensitive method to identify caseous calcification which appears typically as a round, calcified mass with an echo-lucent, liquid-like inner part