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Introduction: The concept of "life engagement" encompasses several aspects of one's life, including personal well-being, contentment, purpose, and engagement in meaningful activities. In 2006, the group led by Scheier designed a 6-item scale to measure this concept in the general population: the Life Engagement Test (LET), however, this tool was never validated in clinical populations (Scheier et al. 2006 J Clin Psychiatry 2006; 29 291-298). In subjects living with schizophrenia life engagement can be measured through the Positive and Negative Syndrome Scale-Life Engagement (PANSS-LE), derived by isolating 11 items (i.e., N01, N02, N03, N04, N05, N06, G06, G07, G13, G15, G16) from the PANSS (Correll et al. 2022 J Clin Psychiatry 2022; 83-4) (Correll et al. 2022 J Clin Psychiatry 2022; 83-5). Objectives: The aim of this study was to investigate the clinical and functional correlates of two different measures of life engagement in a cohort of individuals living with schizophrenia spectrum disorders (SSD). Methods: Ninety-five subjects living with SSD recruited from the ASST Spedali Civili of Brescia (Italy) were included in the preliminary ad-interim analysis of the present study: for each patient information regarding the clinical presentation were measured with the Clinical Global Impression (CGI) scale, the Health of the Nation Outcome Scales (HoNOS), the Brief Negative Symptoms Scale (BNSS) and the PANSS; additionally, information related to the psychosocial functioning were collected through the Global Assessment of Functioning (GAF) scale; finally, life engagement was evaluated through the LET and the PANSS-LE. Spearman's correlations were performed using SPSS v28 and p values < 0.05 were considered significant. Results: Both the LET and the PANSS-LE were correlated with the CGI (p=0.002 and p<0.001 respectively), but only the PANSS-LE was found to be correlated with the GAF (p<0.001), the BNSS (p<0.001) and the HoNOS (p<0.001). Conclusions: The concept of life engagement is of growing interest for healthcare professionals working in the mental health field, in line with the concept of reaching a full functional recovery and considering patient-reported outcomes. From our study it is evident that life engagement in individuals living with SSD is better characterized through the PANSS-LE rather than the LET, as the former is more specific to define the complexity of the SSD symptomatology. Disclosure of Interest: None Declared [ABSTRACT FROM AUTHOR]

Autoantibodies directed against the GluA3 subunit (anti-GluA3 hIgGs) of AMPA receptors have been identified in 20%-25% of patients with frontotemporal lobar degeneration (FTLD). Data from patients and in vitro/ex vivo pre-clinical studies indicate that anti-GluA3 hIgGs negatively affect glutamatergic neurotransmission. However, whether and how the chronic presence of anti-GluA3 hIgGs triggers synaptic dysfunctions and the appearance of FTLD-related neuropathological and behavioural signature has not been clarified yet. To address this question, we developed and characterized a pre-clinical mouse model of passive immunization with anti-GluA3 hIgGs purified from patients. In parallel, we clinically compared FTLD patients who were positive for anti-GluA3 hIgGs to negative ones. Clinical data showed that the presence of anti-GluA3 hIgGs defined a subgroup of patients with distinct clinical features. In the preclinical model, anti-GluA3 hIgGs administration led to accumulation of phospho-tau in the postsynaptic fraction and dendritic spine loss in the prefrontal cortex. Remarkably, the preclinical model exhibited behavioural disturbances that mostly reflected the deficits proper of patients positive for anti-GluA3 hIgGs. Of note, anti-GluA3 hIgGs-mediated alterations were rescued in the animal model by enhancing glutamatergic neurotransmission with a positive allosteric modulator of AMPA receptors. Overall, our study clarified the contribution of anti-GluA3 autoantibodies to central nervous system symptoms and pathology and identified a specific subgroup of FTLD patients. Our findings will be instrumental in the development of a therapeutic personalised medicine strategy for patients positive for anti-GluA3 hIgGs., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved.)

Chronic Obstructive Pulmonary Disease (COPD) is a pathological condition of the respiratory system characterized by chronic airflow obstruction, associated with changes in the lung parenchyma (pulmonary emphysema), bronchi (chronic bronchitis) and bronchioles (small airways disease). In the last years, the importance of phenotyping and endotyping COPD patients has strongly emerged. Metabolomics refers to the study of metabolites (both intermediate or final products) and their biological processes in biomatrices. The application of metabolomics to respiratory diseases and, particularly, to COPD started more than one decade ago and since then the number of scientific publications on the topic has constantly grown. In respiratory diseases, metabolomic studies have focused on the detection of metabolites derived from biomatrices such as exhaled breath condensate, bronchoalveolar lavage, and also plasma, serum and urine. Mass Spectrometry and Nuclear Magnetic Resonance Spectroscopy are powerful tools in the precise identification of potentially prognostic and treatment response biomarkers. The aim of this article was to comprehensively review the relevant literature regarding the applications of metabolomics in COPD, clarifying the potential clinical utility of the metabolomic profile from several biologic matrices in detecting biomarkers of disease and prognosis for COPD. Meanwhile, a complete description of the technological instruments and techniques currently adopted in the metabolomics research will be described., Competing Interests: The authors declare no conflicts of interest.

Niemann-Pick Disease (NPD) is a rare autosomal recessive disease belonging to lysosomal storage disorders. Three types of NPD have been described: NPD type A, B, and C. NPD type A and B are caused by mutations in the gene SMPD1 coding for sphingomyelin phosphodiesterase 1, with a consequent lack of acid sphingomyelinase activity. These diseases have been thus classified as acid sphingomyelinase deficiencies (ASMDs). NPD type C is a neurologic disorder due to mutations in the genes NPC1 or NPC2 , causing a defect of cholesterol trafficking and esterification. Although all three types of NPD can manifest with pulmonary involvement, lung disease occurs more frequently in NPD type B, typically with interstitial lung disease, recurrent pulmonary infections, and respiratory failure. In this sense, bronchoscopy with broncho-alveolar lavage or biopsy together with high-resolution computed tomography are fundamental diagnostic tools. Although several efforts have been made to find an effective therapy for NPD, to date, only limited therapeutic options are available. Enzyme replacement therapy with Olipudase α is the first and only approved disease-modifying therapy for patients with ASMD. A lung transplant and hematopoietic stem cell transplantation are also described for ASMD in the literature. The only approved disease-modifying therapy in NPD type C is miglustat, a substrate-reduction treatment. The aim of this review was to delineate a state of the art on the genetic basis and lung involvement in NPD, focusing on clinical manifestations, radiologic and histopathologic characteristics of the disease, and available therapeutic options, with a gaze on future therapeutic strategies.

Introduction: We assessed TAR DNA-binding protein 43 (TDP-43) seeding activity and aggregates detection in olfactory mucosa of patients with frontotemporal lobar degeneration with TDP-43-immunoreactive pathology (FTLD-TDP) by TDP-43 seeding amplification assay (TDP43-SAA) and immunocytochemical analysis., Methods: The TDP43-SAA was optimized using frontal cortex samples from 16 post mortem cases with FTLD-TDP, FTLD with tau inclusions, and controls. Subsequently, olfactory mucosa samples were collected from 17 patients with FTLD-TDP, 15 healthy controls, and three patients carrying MAPT variants., Results: TDP43-SAA discriminated with 100% accuracy post mortem cases presenting or lacking TDP-43 neuropathology. TDP-43 seeding activity was detectable in the olfactory mucosa, and 82.4% of patients with FTLD-TDP tested positive, whereas 86.7% of controls tested negative (P < 0.001). Two out of three patients with MAPT mutations tested negative. In TDP43-SAA positive samples, cytoplasmatic deposits of phosphorylated TDP-43 in the olfactory neural cells were detected., Discussion: TDP-43 aggregates can be detectable in olfactory mucosa, suggesting that TDP43-SAA might be useful for identifying and monitoring FTLD-TDP in living patients., (© 2023 The Authors. Alzheimer's & Dementia published by Wiley Periodicals LLC on behalf of Alzheimer's Association.)

Introduction: To compare the diagnostic sensitivity of artificial intelligence (AI) assisted videocolposcopy with standard videocolposcopy performed by specialist colposcopists., Methods: A descriptive retrospective cross-sectional study, 782 anonymized medical records from the Computerized System for Screening (SITAM) of women who underwent videocolposcopy with AI and colposcopy with common videocolposcopy performed by specialists, with their corresponding biopsies (gold standard) were analyzed. The relationship between the results of IA videocolposcopy and regular videocolposcopy and the results of biopsies was evaluated. The overall accuracy of each diagnostic procedure was calculated. The sensitivity and concordance of the results of AI videocolposcopy with the gold standard (biopsy) were determined., Results: A total of 395 patient records of patients with IA videocolposcopy and 387 with regular videocolposcopy were analyzed. The accuracy of results was 80% (IC 95%: 75-83%) in IA videocolposcopy and 65% (IC 95%: 60-69%) in regular videocolposcopy (p<0.001). Videocolposcopy results with IA and common colposcopy were significantly correlated with biopsy results, rs=0.75 vs. rs=0.57 respectively (p<0.001). The sensitivity of videocolposcopy with AI was 96% (95% CI: 94-98%), and 93% (95% CI: 89-95%) for regular colposcopy. The overall agreement of colposcopic impressions classified by videocolposcopy with AI and disease was higher than that of colposcopic interpretation by colposcopists (90% vs. 83%, Kappa 0.59 vs. 0.47, p<0.001)., Conclusion: The high diagnostic accuracy of AI videocolposcopy allows obtaining highly sensitive studies that help in the early detection of precursor lesions of cervical neoplasia.