Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia

Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurological disorders characterized primarily by a pyramidal syndrome with lower limb spasticity, which can manifest as pure HSP or associated with a number of neurological or non-neurological signs (i.e., complicated HSPs). The clinical variability of HSPs is associated with a wide genetic heterogeneity, with more than eighty causative genes known. Recently, next generation sequencing (NGS) has allowed increasing genetic definition in such a heterogeneous group of disorders. We report on a 56- year-old man affected by sporadic complicated HSP consisting of a pyramidal syndrome, cerebellar ataxia, congenital cataract, pes cavus, axonal sensory-motor peripheral neuropathy and cognitive decline. Brain MRI showed cerebellar atrophy and thin corpus callosum. By NGS we found a novel homozygous biallelic c.452-1G > C mutation in the b-glucosidase 2 gene (GBA2), known to be causative for autosomal recessive hereditary spastic paraplegia type 46 (SPG46). The rarity of this inherited form besides reporting on a novel mutation, expands the genetic and clinical spectrum of SPG46 related HSP

Eines per la valoració de competències dels estudiants d'enginyeria

Aquest projecte mostra el disseny d’un qüestionari per avaluar el grau d’adquisició per part dels estudiants de les competències genèriques incloses al pla d’estudis de l’Escola Politècnica Superior de Castelldefels. Per tal d’avaluar aquestes competències genèriques s’ha aplicat el mètode Feddback 360º, en el que cada estudiant s’autoavalua i és avaluat pels estudiants del seu grup de treball (self- and peer). L’objectiu del projecte és aconseguir una eina que permeti una avaluació sistemàtica dels resultats. S’han realitzar tres tandes d’enquestes amb diferents mostres i s’han dissenyat dos qüestionaris. El resultat és satisfactori, a falta d’una segona fase en la qual s’incorporaran els professors com a avaluadors (360º) i un avaluador extern, per tal d’acreditar la fiabilitat de l’instrument. Es tracta d’un model que seria transferible a qualsevol universitat en el marc d’adaptació al EEES

Thyme and Savory Essential Oil Vapor Treatments Control Brown Rot and Improve the Storage Quality of Peaches and Nectarines, but Could Favor Gray Mold

The effect of biofumigation, through slow-release diffusors, of thyme and savory essential oils (EO), was evaluated on the control of postharvest diseases and quality of peaches and nectarines. EO fumigation was effective in controlling postharvest rots. Naturally contaminated peaches and nectarines were exposed to EO vapors for 28 days at 0 °C in sealed storage cabinets and then exposed at 20 °C for five days during shelf-life in normal atmosphere, simulating retail conditions. Under low disease pressure, most treatments significantly reduced fruit rot incidence during shelf-life, while, under high disease pressure, only vapors of thyme essential oil at the highest concentration tested (10% v/v in the diffusor) significantly reduced the rots. The application of thyme or savory EO favored a reduction of brown rot incidence, caused by Monilinia fructicola, but increased gray mold, caused by Botrytis cinerea. In vitro tests confirmed that M. fructicola was more sensitive to EO vapors than B. cinerea. Essential oil volatile components were characterized in storage cabinets during postharvest. The antifungal components of the essential oils increased during storage, but they were a low fraction of the volatile organic compounds in storage chambers. EO vapors did not influence the overall quality of the fruit, but showed a positive effect in reducing weight loss and in maintaining ascorbic acid and carotenoid content. The application of thyme and savory essential oil vapors represents a promising tool for reducing postharvest losses and preserving the quality of peaches and nectarines

Brief Tale of a Bacteraemia by Rhodococcus equi, With Concomitant Lung Mass: What Came First, the Chicken or The Egg?

Rhodococcus equi is an uncommon Gram positive, variably acid-fast pathogen, that appears as hard to treat mostly owing to the establishment of intracellular niches. Lack of interpretive criteria for susceptibility testing may lead to under-reporting or overestimation of resistances, whereas knowledge about this pathogen’s clinical impact may be affected by erroneous phenotype-based characterization at a genus and species level