Archivio Istituzionale della Ricerca- Università del Piemonte Orientale
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Polygenic score from MODY genes is associated with type 1 diabetes and disease characteristics
Aims: This study evaluates the contribution of common variants in Maturity-Onset Diabetes of the Young (MODY) genes on type 1 diabetes (T1D), using a polygenic score (PGS) approach. Methods: 485 children and youth diagnosed with T1D from at least 1 year and 271 healthy controls (HC) were recruited. Personal information (i.e. age, sex, height, weight) were collected for each participant, and clinical information (i.e. age at diagnosis, disease duration, presence of autoantibodies and ketoacidosis at onset (DKA)) were also obtained for T1D subjects. Participants were genotyped using Illumina Infinium Global Screening Array. PGS based on Single Nucleotide Polymorphisms (SNPs) in 16 MODY genes were developed. The association of this PGS with T1D susceptibility and clinical disease characteristics was assessed by regression analysis. Results: A PGS including 335 SNPs in MODY genes discriminates T1D from HC (AUC = 60.1%, AIC = 787.6). This PGS was significantly higher in T1D compared to HC (p-value = 0.0004, pseudo-R2 = 2.85%). Moreover, regression analysis between PGS and T1D clinical characteristics showed higher PGS values in T1D subjects with zinc transporter 8 autoantibodies (ZnT8A) compared with T1D subjects without ZnT8A (p-value = 0.04). A similar trend was also observed for antibodies directed against glutamic acid decarboxylase (GADA), although the association did not reach statistical significance (p-value = 0.06). Conclusions: Our study suggests that a polygenic approach based on MODY genes may discriminate T1D from HC and may contribute to patient stratification, helping to better understand T1D heterogeneity
Multiplicity dependence of Υ production at forward rapidity in pp collisions at sqrt(s) = 13 TeV
The measurement of Υ(1S), Υ(2S), and Υ(3S) yields as a function of the charged-particle multiplicity density, dNch/dη, using the ALICE experiment at the LHC, is reported in pp collisions at s= 13 TeV. The Υ meson yields are measured at forward rapidity (2.5<4) in the dimuon decay channel, whereas the charged-particle multiplicity is defined at central rapidity (|η|<1). Both quantities are divided by their average value in minimum bias events to compute the self-normalized quantities. The increase of the self-normalized Υ(1S), Υ(2S), and Υ(3S) yields is found to be compatible with a linear scaling with the self-normalized dNch/dη, within the uncertainties. The self-normalized yield ratios of excited-to-ground Υ states are compatible with unity within uncertainties. Similarly, the measured double ratio of the self-normalized Υ(1S) to the self-normalized J/ψ yields, both measured at forward rapidity, is compatible with unity for self-normalized charged-particle multiplicities beyond one. The measurements are compared with theoretical predictions incorporating initial or final state effects
Il significato di sacrificio nella teoria economica: breve sinossi del pensiero
Questo articolo si propone di descrivere una breve sinossi del pensiero eco-
nomico circa il concetto di sacrificio. Nella storia del pensiero economico, il
concetto di sacrificio si è delineato come uno degli elementi cardine per inter-
pretare il comportamento umano, sia nell’ottica individuale sia in quella col-
lettiva. Questo tema ha attraversato molte delle scuole di pensiero, dai classici
ai neoclassici, dai marginalisti fino a raggiungere l’economia comportamen-
tale e delle scelte sociali. Nelle sfide attuali dell’economia contemporanea,
il sacrificio richiede una riflessione attenta e integrata, che tenga conto dei
contributi provenienti anche da altre discipline e da prospettive etiche, come
quelle offerte dalla dottrina sociale della Chiesa. In questo modo, il sacrificio
può essere interpretato non solo come una rinuncia, ma come un investimento
morale e sociale per una società più equa e sostenibile
Cannabinol’s Modulation of Genes Involved in Oxidative Stress Response and Neuronal Plasticity: A Transcriptomic Analysis
Psychiatric drugs dispensing trends in the affected population following Brumadinho dam failure
Introduction: In January 2019 D1 tailing Dam Failed in Brumadinho, Minas Gerais, Brazil. Two hundred and seventy people were immediately killed when 11.7 million cubic meters of mining byproducts were released, promoting major destruction and environmental damage traveling through the Paraopeba river basin. This study aims to investigate the impact of this disaster in the dispensing of psychiatric drugs. Methods: We evaluated monthly aggregated data from 12 months before to 12 months after the event from two data sources, one accounting for psychiatric drugs dispensed by private pharmacies and the other by public health services. We compared the median dispensing of benzodiazepines and antidepressants from the periods before and after the event using the Mann Whitney test and performed a visual analysis of line graphs from both datasets. Results: Data shows an increase of 294% in dispensing of benzodiazepines in the month following the event with a return almost to the baseline subsequently. When comparing the periods before and after the event the increase was not statistically significant, going from 16.03 to 20.60 daily defined daily doses (DDD) per 1,000 inhabitants (p = 0.07). In the private sector dispensing increased from 8.54 to 11.70 (p = 0.01), whereas in the public it went from 6.67 to 8.91 (p = 0.15). Data on the dispensing of antidepressants showed a statistically significant increase in the period following the event, going from 44.15 daily DDD per 1,000 inhabitants to 53.32 (p = 0.02). In the public sector it rose from 27.89 to 32.43 (p = 0.20), and in the private from 14.90 to 22.03 (p < 0.01). Discussion: We observed a peak in the dispensing of benzodiazepines in the month following the event drawn by the dispensing of diazepam in the public health sector. Dispensing of both benzodiazepines and antidepressants tended to be higher in the period following the event. Our findings should be taken carefully due to the nature of the data used for the study. This study can serve as a call for more evidence and local guidelines on acute psychiatric pharmacological care following disasters and for better integration of pharmaceutical assistance in disaster plans
Lateral Periodontal Cyst in a 10-year-old Child
The lateral periodontal cyst (LPC) is a relatively rare odontogenic non-inflammatory cyst that arises in the alveolar process in close proximity to the roots of vital teeth.LPC is considered to be an odontogenic cyst of developmental origin that arise in close proximity to the periodontal space of teeth, with the exclusion of an inflammatory pathogenesis.LPC is most frequently observed in the premolar region of the mandible, followed by the maxillary incisor region. It is preferentially diagnosed in individuals aged between 40 and 70 years, although it may be occasionally diagnosed in patients outside this age range.LPC is usually asymptomatic and it is usually found by a combination of a clinical finding of a gingival swelling in the facial or lingual aspect of a tooth and of a radiographic finding. The involved teeth are usually vital. The radiographic feature of LPC is a well circumscribed ovoid-round radiolucent area, usually with a less than 1 cm diameter.The aim of the present article is to present an unusual case of LPC in the molar region in a 10-year-old child, and to discuss its diagnosis and management
L'attribution à Jacques Amyot d'un corpus de manuscrits anonymes: une question encore ouverte
Cellular Uptake of Hybrid PLGA-Lipid Gadolinium Nanoparticles Functionalized for Magnetic Resonance Imaging of Pancreatic Adenocarcinoma Cells
Pancreatic adenocarcinoma (PDAC) presents significant diagnostic challenges, necessitating improved imaging techniques. Here, we develop hybrid poly(lactic-co-glycolic acid) (PLGA)-phospholipid nanoparticles (NPs) loaded with gadolinium (Gd) chelates and functionalized with albumin, adenosine, or glutamine to boost their internalization in PDAC cells and increase the detectability by magnetic resonance imaging (MRI). Gd-PLGA NPs were synthesized using an oil-in-water emulsion solvent extraction method and incorporating DSPE-PEG(2000)methoxy and DPPE-PEG(2000) N-Hydroxysuccinimide (NHS) for surface functionalization with albumin, adenosine, or glutamine. NPs were characterized by dynamic light scattering for particle size and ζ potential measurements, in addition to 1H NMR and proton nuclear magnetic relaxation dispersion to assess relaxivity and contrastographic properties, and stability studies were conducted in both HEPES-buffered saline and human serum. Reported studies demonstrated that all the preparations display a good stability, a hydrodynamic diameter lower than 200 nm, and a slight negative surface charge, with good potential for applications in cells and in vivo. In vitro studies on MiaPaca2 and Panc1 cell lines confirmed that functionalized NPs display higher cellular uptake and stronger MRI signal enhancement than unconjugated controls, with albumin-PLGA-lipid NPs leading to the greatest uptake. Our findings highlight a promising route toward a more sensitive, targeted MRI of PDAC, calling for in vivo studies to assess diagnostic potential and therapeutic applications
Study of same-sign W boson scattering and anomalous couplings in events with one tau lepton from pp collisions at TeV
A first study is presented of the cross section for the scattering of same-sign W boson pairs via the detection of a τ lepton. The data from proton-proton collisions at the center-of-mass energy of 13 TeV were collected by the CMS detector at the LHC, and correspond to an integrated luminosity of 138 fb−1. Events were selected that contain two jets with large pseudorapidity and large invariant mass, one τ lepton, one light lepton (e or μ), and significant missing transverse momentum. The measured cross section for electroweak same-sign WW scattering is times the standard model prediction. In addition, a search is presented for the indirect effects of processes beyond the standard model via the effective field theory framework, in terms of dimension-6 and dimension-8 operators
Characterising acute and chronic care needs: insights from the Global Burden of Disease Study 2019
: Chronic care manages long-term, progressive conditions, while acute care addresses short-term conditions. Chronic conditions increasingly strain health systems, which are often unprepared for these demands. This study examines the burden of conditions requiring acute versus chronic care, including sequelae. Conditions and sequelae from the Global Burden of Diseases Study 2019 were classified into acute or chronic care categories. Data were analysed by age, sex, and socio-demographic index, presenting total numbers and contributions to burden metrics such as Disability-Adjusted Life Years (DALYs), Years Lived with Disability (YLD), and Years of Life Lost (YLL). Approximately 68% of DALYs were attributed to chronic care, while 27% were due to acute care. Chronic care needs increased with age, representing 86% of YLDs and 71% of YLLs, and accounting for 93% of YLDs from sequelae. These findings highlight that chronic care needs far exceed acute care needs globally, necessitating health systems to adapt accordingly