Juvenile discursive representations in school writing practices

Los estudios sobre juventudes han crecido sustancialmente en el marco de contribuciones inter y transdisciplinarias. En este contexto, los estudios del discurso cobran especial importancia como campo de análisis de las formas de representación de la juventud, entendiendo que el discurso es una práctica social. Este artículo examina qué representaciones discursivas sobre juventud emergen de producciones escritas de estudiantes de una institución educativa privada de Tucumán, Argentina. Se pretende visibilizar las problemáticas y temas juveniles desde los sujetos sociales que se estudian.Studies on youth have grown substantially within the framework of inter- and trans- disciplinary contributions. In this context, discourse studies are especially important as a field of analysis of the forms of representation of youth, since discourse is a social practice. This article examines which discursive representations about youth are emerging from written productions by students from a private educational institution in Tucumán, Argentina. It aims to make visible the youth problems and issues from the social subjects that are studied.Fil: Palazzo, María Gabriela. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán. Instituto de Investigaciones sobre el Lenguaje y la Cultura. Universidad Nacional de Tucumán. Facultad de Filosofía y Letras. Cátedra de Literatura Argentina. Instituto de Investigaciones sobre el Lenguaje y la Cultura; ArgentinaFil: Marchese, Roberta. Universidad Nacional de Tucumán. Facultad de Filosofía y Letras. Instituto de Investigaciones Lingüística y Literatura Hispanoamericana; Argentin

Il ricorso a società esterne per la ricerca e selezione del personale: il caso Profili Toscana S.r.l.

Il presente elaborato nasce dalla volontà di approfondire il lavoro svolto presso la società di ricerca e selezione Profili Toscana S.r.l. in occasione del mio stage curriculare. Questa esperienza mi ha permesso di apprendere le metodologie inerenti il reclutamento e la selezione del personale e di osservare come una società esterna per il recruiting, si ponga come risposta alle esigenze di acquisizione di nuovo organico nelle aziende. Il focus del lavoro è stato rappresentato dalla volontà di comprendere quali siano i motivi principali per cui le aziende scelgono di rivolgersi a società esterne, al fine di individuare la persona idonea a ricoprire un ruolo specifico. Per tale scopo è stato realizzato un questionario rivolto ad un campione di 34 aziende che hanno usufruito del servizio di consulenza negli ultimi due anni. Tra queste, 20 realtà hanno preso attivamente parte alla ricerca, compilando il questionario. La scelta è ricaduta su tale tipo di strumento di indagine per la sua alta fruibilità in termini di tempistiche. È emerso che tra i motivi principali per cui si ricorre al servizio di tali società esterne, vi è la possibilità di accedere ad un database ricco di profili (costruito durante gli anni di attività) difficilmente individuabili altrimenti e che soddisfano più efficacemente i criteri di selezione. Inoltre si evince che anche le competenze sviluppate nel tempo, la preparazione e la conoscenza aggiornata sulle condizioni del mercato che contraddistingue i consulenti specializzati, costituisce una motivazione rilevante. Mentre la non tempestività nel concludere un incarico sembra rappresentare un motivo poco attrattivo. Per un’impresa che vuole competere sul mercato del lavoro è diventato determinante trovare «la persona giusta al posto giusto», in grado di fare la differenza compatibilmente alle esigenze aziendali. La guerra dei talenti è sempre più acuta ed è qui che entrano in gioco le società di ricerca e selezione del personale, in grado di cogliere i tratti distintivi insiti nei candidati, garantendo professionalità e correttezza. La scoperta e la selezione dei migliori talenti comportano un notevole vantaggio competitivo per l’azienda cliente. Seguendo questo punto di vista e l’interpretazione dei risultati del questionario, si giunge alla conclusione che le società di ricerca e selezione del personale, capaci di soddisfare le esigenze dei clienti e favorendo l’incontro tra le esigenze dell’azienda e del candidato, possano essere concepite come elemento valido all’interno della strategia competitiva aziendale. Tesi supportata anche dal fatto che la maggioranza delle aziende-clienti che hanno risposto al questionario, possiedono figure specifiche all’interno che si occupano dell’iter-selettivo, ma nonostante ciò ritengono opportuno il supporto di società esterne

Targeted next generation sequencing in Italian patients with Usher syndrome: Phenotype-genotype correlations

Abstract We report results of DNA analysis with next generation sequencing (NGS) of 21 consecutive Italian patients from 17 unrelated families with clinical diagnosis of Usher syndrome (4 USH1 and 17 USH2) searching for mutations in 11 genes: MYO7A, CDH23, PCDH15, USH1C, USH1G, USH2A, ADGVR1, DFNB31, CLRN1, PDZD7, HARS. Likely causative mutations were found in all patients: 25 pathogenic variants, 18 previously reported and 7 novel, were identified in three genes (USH2A, MYO7A, ADGRV1). All USH1 presented biallelic MYO7A mutations, one USH2 exhibited ADGRV1 mutations, whereas 16 USH2 displayed USH2A mutations. USH1 patients experienced hearing problems very early in life, followed by visual impairment at 1, 4 and 6 years. Visual symptoms were noticed at age 20 in a patient with homozygous novel MYO7A missense mutation c.849G > A. USH2 patients’ auditory symptoms, instead, arose between 11 months and 14 years, while visual impairment occurred later on. A homozygous c.5933_5940del;5950_5960dup in USH2A was detected in one patient with early deafness. One patient with homozygous deletion from exon 23 to 32 in USH2A suffered early visual symptoms. Therefore, the type of mutation in USH2A and MYO7A genes seems to affect the age at which both auditory and visual impairment occur in patients with USH

Trehalose Treatment in Zebrafish Model of Lafora Disease

Mutations in the EPM2A gene encoding laforin cause Lafora disease (LD), a progressive myoclonic epilepsy characterized by drug-resistant seizures and progressive neurological impairment. To date, rodents are the only available models for studying LD; however, their use for drug screening is limited by regulatory restrictions and high breeding costs. To investigate the role of laforin loss of function in early neurodevelopment, and to screen for possible new compounds for treating the disorder, we developed a zebrafish model of LD. Our results showed the epm2a−/− zebrafish to be a faithful model of LD, exhibiting the main disease features, namely motor impairment and neuronal hyperexcitability with spontaneous seizures. The model also showed increased inflammatory response and apoptotic death, as well as an altered autophagy pathway that occurs early in development and likely contributes to the disease progression. Early administration of trehalose was found to be effective for rescuing motor impairment and neuronal hyperexcitability associated with seizures. Our study adds a new tool for investigating LD and might help to identify new treatment opportunities

Nasopharyngeal Carriage of Streptococcus pneumoniae in Healthy Children: Implications for the Use of Heptavalent Pnemococcal Conjugate Vaccine

We assessed the prevalence of Streptococcus pneumoniae serotypes in the nasopharynx of healthy children, antimicrobial susceptibility patterns, risk factors for carriage, and the coverage of heptavalent pneumococcal conjugate vaccine. In 2,799 healthy infants and children, the S. pneumoniae carrier rate was 8.6% (serotypes 3, 19F, 23F, 19A, 6B, and 14 were most common). Most pneumococci (69.4%) were resistant to one or more antimicrobial classes. The rate of penicillin resistance was low (9.1%); macrolide resistance was high (52.1%). Overall, 63.2% of the isolates belonged to strains covered by the heptavalent pneumococcal vaccine. This percentage was higher in children <2 years old (73.1%) and in those >2-5 years old(68.9%). Sinusitis in the previous 3 months was the only risk factor for carrier status; acute otitis media was the only risk factor for the carriage of penicillin-resistant S. pneumoniae. Most the isolated strains are covered by the heptavalent conjugate vaccine, especially in the first years of life, suggesting that its use could reduce the incidence of pneumococcal disease

Metabolomic fingerprinting of renal disease progression in Bardet-Biedl syndrome reveals mitochondrial dysfunction in kidney tubular cells.

Chronic kidney disease (CKD) is a major clinical sign of patients with Bardet-Biedl syndrome (BBS), especially in those carrying BBS10 mutations. Twenty-nine patients with BBS and 30 controls underwent a serum-targeted metabolomic analysis. In vitro studies were conducted in two kidney-derived epithelial cell lines, where Bbs10 was stably deleted (IMCD3-Bbs10-/-cells) and over-expressed. The CKD status affected plasmatic metabolite fingerprinting in both patients with BBS and controls. Specific phosphatidylcholine and acylcarnitines discriminated eGFR decline only in patients with BBS. IMCD3-Bbs10-/ cells displayed intracellular lipidaccumulation, reduced mitochondrial potential membrane and citrate synthase staining. Mass-Spectrometry-based analysis revealed that human BBS10 interacted with six mitochondrial proteins, in vitro. In conclusion, renal dysfunction correlated with abnormal phosphatidylcholine and acylcarnitines plasma levels in patients with BBS; in vitro, Bbs10 depletion caused mitochondrial defects while human BBS10 interacted with several mitochondria-related proteins, suggesting an unexplored role of this protein

Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52.

Autosomal recessive spastic paraplegia 52 is caused by biallelic mutations in AP4S1 which encodes a subunit of the adaptor protein complex 4 (AP-4). Using next-generation sequencing, we identified three novel unrelated SPG52 patients from a cohort of patients with cerebral palsy. The discovered variants in AP4S1 lead to reduced AP-4 complex formation in patient-derived fibroblasts. To further understand the role of AP4S1 in neuronal development and homeostasis, we engineered the first zebrafish model of AP-4 deficiency using morpholino-mediated knockdown of ap4s1. In this model, we discovered several phenotypes mimicking SPG52, including altered CNS development, locomotor deficits, and abnormal neuronal excitability

Psychopathological Impact in Patients with History of Rheumatic Fever with or without Sydenham's Chorea: A Multicenter Prospective Study

Sydenham's chorea (SC) is a post-streptococcal autoimmune disorder of the central nervous system, and it is a major criterium for the diagnosis of acute rheumatic fever (ARF). SC typically improves in 12-15 weeks, but patients can be affected for years by persistence and recurrencies of both neurological and neuropsychiatric symptoms. We enrolled 48 patients with a previous diagnosis of ARF, with or without SC, in a national multicenter prospective study, to evaluate the presence of neuropsychiatric symptoms several years after SC's onset. Our population was divided in a SC group (n = 21), consisting of patients who had SC, and a nSC group (n = 27), consisting of patients who had ARF without SC. Both groups were evaluated by the administration of 8 different neuropsychiatric tests. The Work and Social Adjustment Scale (WSAS) showed significantly (p = 0.021) higher alterations in the SC group than in the nSC group. Furthermore, 60.4% (n = 29) of the overall population experienced neuropsychiatric symptoms other than choreic movements at diagnosis and this finding was significantly more common (p = 0.00) in SC patients (95.2%) than in nSC patients (33.3%). The other neuropsychiatric tests also produced significant results, indicating that SC can exert a strong psychopathological impact on patients even years after its onset

Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species

Germline-activating mutations in HRAS cause Costello syndrome (CS), a cancer prone multisystem disorder characterized by reduced postnatal growth. In CS, poor weight gain and growth are not caused by low caloric intake. Here, we show that constitutive plasma membrane translocation and activation of the GLUT4 glucose transporter, via reactive oxygen species-dependent AMP-activated protein kinase α and p38 hyperactivation, occurs in primary fibroblasts of CS patients, resulting in accelerated glycolysis and increased fatty acid synthesis and storage as lipid droplets. An accelerated autophagic flux was also identified as contributing to the increased energetic expenditure in CS. Concomitant inhibition of p38 and PI3K signaling by wortmannin was able to rescue both the dysregulated glucose intake and accelerated autophagic flux. Our findings provide a mechanistic link between upregulated HRAS function, defective growth and increased resting energetic expenditure in CS, and document that targeting p38 and PI3K signaling is able to revert this metabolic dysfunction.n