11 research outputs found
SAND: a Screening for Aphasia in NeuroDegeneration. Development and normative data
Language assessment has a critical role in the clinical diagnosis of neurodegenerative diseases, in particular, in the case of Primary Progressive Aphasia (PPA). The current diagnostic criteria (Gorno-Tempini et al., 2011) identify three main variants on the basis of clinical features and patterns of brain atrophy. Widely accepted tools to diagnose, clinically classify, and follow up the heterogeneous language profiles of PPA are still lacking. In this study, we develop a screening battery, composed of nine tests (picture naming, word and sentence comprehension, word and sentence repetition, reading, semantic association, writing and picture description), following the recommendations of current diagnostic guidelines and taking into account recent research on the topic. All tasks were developed with consideration of the psycholinguistic factors that can affect performance, with the aim of achieving sensitivity to the language deficit to which each task was relevant, and to allow identification of the selective characteristic impairments of each PPA variant. Normative data on 134 Italian subjects pooled across homogeneous subgroups for age, sex, and education are reported. Although further work is still needed, this battery represents a first step towards a concise multilingual standard language examination, a fast and simple tool to help clinicians and researchers in the diagnosis of PPA
Predictive Value of Mutation Analysis in the Diagnostic Approach to Patients with Unexplained Cytopenia
Clinical significance of somatic mutation in unexplained blood cytopenia
Unexplained blood cytopenias, in particular anemia, are often found in older persons. The relationship between these cytopenias and myeloid neoplasms like myelodysplastic syndromes is currently poorly defined. We studied a prospective cohort of patients with unexplained cytopenia with the aim to estimate the predictive value of somatic mutations for identifying subjects with, or at risk of developing a myeloid neoplasm. The study included a learning cohort of 683 consecutive patients investigated for unexplained cytopenia, and a validation cohort of 190 patients referred for suspected myeloid neoplasm. Using granulocyte DNA, we looked for somatic mutations in 40 genes that are recurrently mutated in myeloid malignancies. Overall, 435/683 patients carried a somatic mutation in at least one of these genes. Carrying one somatic mutation with a variant allele frequency equal to or greater than 0.10, or carrying two or more mutations had a positive predictive value for diagnosis of myeloid neoplasm equal to 0.86 and 0.88, respectively. Spliceosome gene mutations and co-mutation patterns involving TET2, DNMT3A, or ASXL1 had positive predictive values for myeloid neoplasm ranging from 0.86 to 1.0. Within subjects with inconclusive diagnostic findings, carrying one or more somatic mutations was associated with a high probability of developing a myeloid neoplasm during follow-up (HR=13.9, P<.001). The predictive values of mutation analysis were confirmed in the independent validation cohort. The findings of this study indicate that mutation analysis on peripheral blood granulocytes may significantly improve the current diagnostic approach to unexplained cytopenia, and more generally the diagnostic accuracy of myeloid neoplasms
L'intelligenza artificiale al servizio dell'uomo e il controllo etico dell'algoritmo
Stiamo vivendo un cambiamento epocale. La vitalitĂ , i valori e lo spirito sono quelli di sempre, ma lâevoluzione tecnologica sta andando velocemente oltre gli schemi sino ad oggi conosciuti, e noi ci sentiamo un poâ disallineati rispetto al mondo che gira sempre piĂš veloce, con sistemi massivi che non riusciamo a governare appieno.
Ă nostro dovere essere informati e âformatiâ, al fine di affrontare uno sviluppo inarrestabile con un approccio necessariamente antropocentrico ed un controllo âeticoâ che tuteli noi e le generazioni che verranno, nellâeterno antagonismo tra la libertĂ di iniziativa privata (art. 41 Cost.) e la necessaria regolazione del fenomeno, al fine di salvaguardare i diritti fondamentali dellâuomo e quelli del consumatore finale.
In un momento in cui è centrale porre in essere tutte le azioni possibili per salvaguardare il pianeta in unâottica di sostenibilitĂ ed economia circolare, fin dalla fase di progettazione dei prodotti, lâIntelligenza Artificiale può rappresentare lâoccasione di non perdere lâopportunitĂ di salvare il pianeta dalla fame, dallâinquinamento, dai cambiamenti climatici, dalla povertĂ , dalle barbarie.
Sebbene, infatti, la capacitĂ di una macchina di mettere in correlazione grandi quantitĂ di informazioni e dati, elaborarli secondo una determinata formula preconfezionata (lâalgoritmo) e dare il risultato previsto e richiesto, può dirsi essere assimilabile allâintelligenza umana, è fuori di dubbio che alla stessa manchi la capacitĂ del c.d. âdiscernimentoâ. Vale a dire, la capacitĂ , tutta umana, di valutare e adattarsi alle molteplici variabili impreviste e/o imprevedibili.
Conseguentemente, il giurista è chiamato a âinterpretareâ e âregolareâ tale fenomeno, vieppiĂš tenuto conto della inevitabile dicotomia tra libertĂ di iniziativa economica privata e salvaguardia dei diritti inviolabili dellâuomo.
Ă intuibile ed evidente che - nonostante la potenza elaborativa, la precisione e la velocitĂ di esecuzione delle macchine consentirĂ un progresso esponenzialmente nei prossimi anni in quasi tutti i settori (i.e. sanitĂ , medicina, agricoltura, ambiente, finanza, impresa, sicurezza, mobilitĂ ) - potranno determinarsi non trascurabili stravolgimenti e problematiche connessi, tra lâaltro, al pericolo del cd. digital divide, al diritto del lavoro, alla cybersecurity, alla privacy ecc.
Occorre, quindi, necessariamente riflettere e considerare la necessitĂ di un âcontrollo eticoâ dellâalgoritmo nonchĂŠ di una sua âregolazioneâ. Ed invero, giĂ vi sono ad oggi, pronunce dei giudici amministrativi (Cons. Stato, Sez. VI; Sent. 8 aprile 2019, n. 2270) che hanno confermato la necessitĂ di trasparenza, accessibilitĂ e âgiustiziabilitĂ â dellâalgoritm
The Compression Flow as a Measure to Estimate the Brain Connectivity Changes in Resting State fMRI and 18FDG-PET Alzheimer's Disease Connectomes
Correction: Italian adaptation of the Uniform Data Set Neuropsychological Test Battery (IâUDSNB 1.0): development and normative data
Italian adaptation of the Uniform Data Set Neuropsychological Test Battery (I-UDSNB 1.0): development and normative data
Background: Neuropsychological testing plays a cardinal role in the diagnosis and monitoring of Alzheimer's disease. A major concern is represented by the heterogeneity of the neuropsychological batteries currently adopted in memory clinics and healthcare centers. The current study aimed to solve this issue. Methods: Following the initiative of the University of Washington's National Alzheimer's Coordinating Center (NACC), we presented the Italian adaptation of the Neuropsychological Test Battery of the Uniform Data Set (I-UDSNB). We collected data from 433 healthy Italian individuals and employed regression models to evaluate the impact of demographic variables on the performance, deriving the reference norms. Results: Higher education and lower age were associated with a better performance in the majority of tests, while sex affected only fluency tests and Digit Span Forward. Conclusions: The I-UDSNB offers a valuable and harmonized tool for neuropsychological testing in Italy, to be used in clinical and research settings