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| 2. |
- Munn-Chernoff, M. A., et al.
(author)
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Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies
- 2021
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In: Addiction Biology. - : Wiley. - 1355-6215 .- 1369-1600. ; 26:1
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Journal article (peer-reviewed)abstract
- Eating disorders and substance use disorders frequently co-occur. Twin studies reveal shared genetic variance between liabilities to eating disorders and substance use, with the strongest associations between symptoms of bulimia nervosa and problem alcohol use (genetic correlation [r(g)], twin-based = 0.23-0.53). We estimated the genetic correlation between eating disorder and substance use and disorder phenotypes using data from genome-wide association studies (GWAS). Four eating disorder phenotypes (anorexia nervosa [AN], AN with binge eating, AN without binge eating, and a bulimia nervosa factor score), and eight substance-use-related phenotypes (drinks per week, alcohol use disorder [AUD], smoking initiation, current smoking, cigarettes per day, nicotine dependence, cannabis initiation, and cannabis use disorder) from eight studies were included. Significant genetic correlations were adjusted for variants associated with major depressive disorder and schizophrenia. Total study sample sizes per phenotype ranged from similar to 2400 to similar to 537 000 individuals. We used linkage disequilibrium score regression to calculate single nucleotide polymorphism-based genetic correlations between eating disorder- and substance-use-related phenotypes. Significant positive genetic associations emerged between AUD and AN (r(g) = 0.18; false discovery rate q = 0.0006), cannabis initiation and AN (r(g) = 0.23; q < 0.0001), and cannabis initiation and AN with binge eating (r(g) = 0.27; q = 0.0016). Conversely, significant negative genetic correlations were observed between three nondiagnostic smoking phenotypes (smoking initiation, current smoking, and cigarettes per day) and AN without binge eating (r(gs) = -0.19 to -0.23; qs < 0.04). The genetic correlation between AUD and AN was no longer significant after co-varying for major depressive disorder loci. The patterns of association between eating disorder- and substance-use-related phenotypes highlights the potentially complex and substance-specific relationships among these behaviors.
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| 3. |
- Bryois, J., et al.
(author)
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Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease
- 2020
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 52:5, s. 482-493
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Journal article (peer-reviewed)abstract
- Genome-wide association studies have discovered hundreds of loci associated with complex brain disorders, but it remains unclear in which cell types these loci are active. Here we integrate genome-wide association study results with single-cell transcriptomic data from the entire mouse nervous system to systematically identify cell types underlying brain complex traits. We show that psychiatric disorders are predominantly associated with projecting excitatory and inhibitory neurons. Neurological diseases were associated with different cell types, which is consistent with other lines of evidence. Notably, Parkinson’s disease was genetically associated not only with cholinergic and monoaminergic neurons (which include dopaminergic neurons) but also with enteric neurons and oligodendrocytes. Using post-mortem brain transcriptomic data, we confirmed alterations in these cells, even at the earliest stages of disease progression. Our study provides an important framework for understanding the cellular basis of complex brain maladies, and reveals an unexpected role of oligodendrocytes in Parkinson’s disease. © 2020, The Author(s), under exclusive licence to Springer Nature America, Inc.
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| 5. |
- Babusci, D., et al.
(author)
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Measurement of the branching fraction for the decay K-S -> pi mu nu with the KLOE detector
- 2020
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In: Physics Letters B. - : ELSEVIER. - 0370-2693 .- 1873-2445. ; 804
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Journal article (peer-reviewed)abstract
- Based on a sample of 300 million K-S mesons produced in phi -> KLKS decays recorded by the KLOE experiment at the DA Phi NE e(+)e(-) collider we have measured the branching fraction for the decay K-S -> pi mu nu. The K-S mesons are identified by the interaction of K-L mesons in the detector. The K-S -> pi mu nu decays are selected by a boosted decision tree built with kinematic variables and by a time-of-flight measurement. Signal efficiencies are evaluated with data control samples of K-L -> pi mu nu decays. A fit to the reconstructed muon mass distribution finds 7223 +/- 180 signal events. Normalising to the K-S -> pi(+)pi(-) decay events the result for the branching fraction is B(K-S -> pi mu nu) = (4.56 +/- 0.11(stat) +/- 0.17(syst)) x 10(-4). It is the first measurement of this decay mode and the result allows an independent determination of vertical bar V-us vertical bar and a test of the lepton-flavour universality. (c) 2020 The Author. Published by Elsevier B.V. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
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| 6. |
- Babusci, D., et al.
(author)
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Precision tests of quantum mechanics and CPT symmetry with entangled neutral kaons at KLOE
- 2022
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In: Journal of High Energy Physics (JHEP). - : Springer Nature. - 1126-6708 .- 1029-8479.
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Journal article (peer-reviewed)abstract
- The quantum interference between the decays of entangled neutral kaons is studied in the process phi -> KSKL -> pi(+)pi(-)pi(+)pi(-), which exhibits the characteristic Einstein-Podolsky-Rosen correlations that prevent both kaons to decay into pi(+)pi(-) at the same time. This constitutes a very powerful tool for testing at the utmost precision the quantum coherence of the entangled kaon pair state, and to search for tiny decoherence and CPT violation effects, which may be justified in a quantum gravity framework. The analysed data sample was collected with the KLOE detector at DA Phi NE, the Frascati phi-factory, and corresponds to an integrated luminosity of about 1.7 fb(-1), i.e. to about 1.7 x 10(9) phi -> KSKL decays produced. From the fit of the observed Delta t distribution, being Delta t the difference of the kaon decay times, the decoherence and CPT violation parameters of various phenomenological models are measured with a largely improved accuracy with respect to previous analyses. The results are consistent with no deviation from quantum mechanics and CPT symmetry, while for some parameters the precision reaches the interesting level at which - in the most optimistic scenarios - quantum gravity effects might show up. They provide the most stringent limits up to date on the considered models.
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| 7. |
- Babusci, D., et al.
(author)
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Upper limit on the eta -> pi(+)pi(-) branching fraction with the KLOE experiment
- 2020
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In: Journal of High Energy Physics (JHEP). - : SPRINGER. - 1126-6708 .- 1029-8479. ; :10
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Journal article (peer-reviewed)abstract
- Based on an integrated luminosity of 1.61 fb(-1)e(+)e(-) collision data collected with the KLOE detector at DA Phi NE, the Frascati phi -factory, a search for the P- and CP-violating decay eta -> pi (+)pi (-) has been performed. Radiative phi -> eta gamma decay is exploited to access the eta mesons. No signal is observed in the pi (+)pi (-) invariant mass spectrum, and the upper limit on the branching fraction at 90% confidence level is determined to be B(eta -> pi (+)pi (-)) < 4.9 x 10(-6), which is approximately three times smaller than the previous KLOE result. From the combination of these two measurements we get B( -> pi (+)pi (-)) < 4.4 x 10(-6) at 90% confidence level.
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| 8. |
- Sgouros, D., et al.
(author)
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Dermatoscopic features of thin (<= 2 mm Breslow thickness) vs. thick (>2 mm Breslow thickness) nodular melanoma and predictors of nodular melanoma versus nodular non-melanoma tumours: a multicentric collaborative study by the International Dermoscopy Society
- 2020
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In: Journal of the European Academy of Dermatology and Venereology. - : Wiley. - 0926-9959 .- 1468-3083. ; 34:11, s. 2541-2547
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Journal article (peer-reviewed)abstract
- Background Thin nodular melanoma (NM) often lacks conspicuous melanoma-specific dermatoscopic criteria and escapes clinical detection until it progresses to a thicker and more advanced tumour. Objective To investigate the dermatoscopic morphology of thin (<= 2 mm Breslow thickness) vs. thick (>2 mm) NM and to identify dermatoscopic predictors of its differential diagnosis from other nodular tumours. Methods Retrospective, morphological case-control study, conducted on behalf of the International Dermoscopy Society. Dermatoscopic images of NM and other nodular tumours from 19 skin cancer centres worldwide were collected and analysed. Results Overall, 254 tumours were collected (69 NM of Breslow thickness <= 2 mm, 96 NM >2 mm and 89 non-melanoma nodular lesions). Light brown coloration (50.7%) and irregular brown dots/globules (42.0%) were most frequently observed in <= 2 mm NMs. Multivariate analysis revealed that dotted vessels (3.4-fold), white shiny streaks (2.9-fold) and irregular blue structureless area (2.4-fold) were predictors for thinner NM compared to non-melanoma nodular tumours. Overall, irregular blue structureless area (3.4-fold), dotted vessels (4.6-fold) and serpentine vessels (1.9-fold) were predictors of all NM compared to non-melanoma nodular lesions. Limitations Absence of a centralized, consensus pathology review and cases selected form tertiary centres maybe not reflecting the broader community. Conclusions Our study sheds light into the dermatoscopic morphology of thin NM in comparison to thicker NM and could provide useful clues for its differential diagnosis from other non-melanoma nodular tumours.
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| 9. |
- Markiewicz-Kijewska, M, et al.
(author)
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ABO Incompatible Liver Transplantation in Children: A 20 Year Experience from Centres in the TransplantChild European Reference Network
- 2021
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In: Children (Basel, Switzerland). - : MDPI AG. - 2227-9067. ; 8:9
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Journal article (peer-reviewed)abstract
- An increasing number of AB0-incompatible (AB0i) liver transplantations (LT) are being undertaken internationally in recent years due to organ shortages and the need for urgent transplantation. The aim of our study was establish the value of ABOi LT from available retrospective results of AB0i pediatric liver transplantations performed in European reference centers now belonging to the TransplantChild, European Reference Network (ERN). Data from medical records were analyzed, including demographic data, diagnosis, urgency of transplantation, time on the waiting list, PELD/MELD score, desensitization procedures, immunosuppression, selected post-transplant complications, and patient and graft survival. A total of 142 patients (pts) with transplants between 1986 and 2018 in 8 European transplant centers were included in the study. The indications for liver transplantation were: cholestatic diseases in 62 pts, acute liver failure in 42 pts, and other conditions in the remaining 38 pts. Sixty-six patients received grafts from living donors, and seventy-six received grafts from deceased donors. Both patient and graft survival were significantly affected by deceased donor type, urgent transplantation, and the development of vascular complications. In the multivariate analysis, vascular complications had a negative impact on patient and graft survival, while a longer time from the first AB0i LT in the study showed better results, suggesting an international learning experience. In conclusion, we believe that AB0i LT in children is now a safe procedure that may be adopted more readily in children.
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| 10. |
- Petruzzo, P., et al.
(author)
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VCA in the Era of the COVID-19 Pandemic
- 2022
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In: Transplantation. - : Ovid Technologies (Wolters Kluwer Health). - 0041-1337. ; 106:4, s. 690-692
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Journal article (peer-reviewed)
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