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De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy—Case Report and Literature Review
No full textPathogenic variants in DNM1L, encoding dynamin-like protein-1 (DRP1), cause
a lethal encephalopathy. DRP1 defective function results in altered mitochondrial networks,
characterized by elongated/spaghetti-like, highly interconnected mitochondria.
We validated in yeast the pathogenicity of a de novo DNM1L variant identified by whole
exome sequencing performed more than 10 years after the patient’s death. Meanwhile, we
reviewed the broadness and specificities of DNM1L-related phenotype. The patient, who
exhibited developmental delay in her third year, developed a therapy-refractory myoclonic
status epilepticus, followed by neurological deterioration with brain atrophy and refractory
epilepsy. She died of heart failure due to hypertrophic cardiomyopathy. She was found
to be heterozygous for the DNM1L variant (NM_ 012062.5):c.1201G>A, p.(Gly401Ser). We
demonstrated its deleterious impact and dominant negative effect by assessing haploid and
diploid mutant yeast strains, oxidative growth, oxygen consumption, frequency of petite,
and architecture of the mitochondrial network. Structural modeling of p.(Gly401Ser) predicted
the interference of the mutant protein in the self-oligomerization of the DRP1 active
complex. DNM1L-related phenotypes include static or (early) lethal encephalopathy and
neurodevelopmental disorders. In addition, there may be ophthalmological impairment,
peripheral neuropathy, ataxia, dystonia, spasticity, myoclonus, and myopathy. The clinical
presentations vary depending on mutations in different DRP1 domains. Few pathogenic
variants, the p.(Gly401Ser) included, cause an encephalocardiomyopathy with refractory
status epilepticus
Soci in affari: κοινωνίαι e κοινωνοί nell’Atene di età classica
No full textThe goal of this article is to identify and survey all cases of business partnerships (koinoniai) attested in the literary and epigraphic sources of classical Athens and to clarify some juridical aspects related to their functioning. At the same time, it intends to assess the role of koinoniai in the various sectors of the Athenian economy and the degree to which they entailed interaction between citizens and non-citizens, with a view to further reflection on the extent of noncitizens integration into the Athenian community beyond the economic sphere
Early-Onset Inherited Metabolic Diseases: When Clinical Symptoms Precede Newborn Screening—Insights from Emilia-Romagna (Italy)
No full textBackground: Expanded Newborn Screening (ENS) allows the early identification of many inherited metabolic diseases (IMDs) for which timely treatment can modify the natural history. For most IMDs, diagnosis by ENS is pre-clinical. However, clinical symptoms may emerge for certain conditions before screening results become available. Methods: We describe six cases of patients with early-onset IMDs born between 2013 and 2023, who were admitted or transferred to Sant’Orsola University Hospital in Bologna (Italy). Results: Over the study period, 379,013 newborns underwent ENS in the Italian region of Emilia-Romagna. Excluding cases of congenital hypothyroidism, pre-clinical diagnoses from ENS were 410. In addition, six cases of IMD presented with early-onset clinical symptomatology, an antecedent to the outcome of newborn screening (incidence over 11 years of 1.58 cases per 100,000 infants). Among these patients, three were diagnosed with Urea Cycle Disorders (UCDs)—two with Citrullinemia type I (CIT1) and one with Argininosuccinic Acidemia (ASA); two were diagnosed with Methylmalonic Acidemia (MMA); and one was found to have Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD). Conclusions: Our 11-year experience with ENS has shown that clinical onset can occur between the second and fourth day of life, though rare. Even if dried blood spot (DBS) collection was performed 24–48 h after birth, the time required for sample transportation and processing would still delay result availability, making early intervention unlikely. Therefore, our experience supports performing ENS at 48–72 h, as currently implemented in Italy, while also highlighting the advantages and limitations of earlier screening
THE SHARP GROWTH RATE IN NONUNIFORMLY ELLIPTIC SCHAUDER THEORY
No full textSchauder estimates hold in nonuniformly elliptic problems under optimal assump-
tions on the growth of the ellipticity ratio
Cannabidiol Enhances the Therapeutic Efficacy of Olsalazine and Cyclosporine in a Murine Model of Colitis
No full textCurrent therapies for inflammatory bowel disease (IBD), such as olsalazine and cyclosporine, often exhibit limited long-term efficacy and are associated with adverse effects. Cannabidiol (CBD), a non-psychoactive phytocannabinoid, shows promise for its anti-inflammatory properties, though its effectiveness as a monotherapy remains inconclusive. This study investigates the therapeutic potential of combining low-dose CBD (10 mg/kg) with olsalazine (50 mg/kg) or cyclosporine (2.5, 5 mg/kg) in dextran sulphate sodium (DSS)-induced acute and chronic colitis models in mice. Disease severity was assessed via disease activity index (DAI), colon morphology, cytokine and chemokine expression, myeloperoxidase (MPO) activity, systemic inflammatory markers, and glucagon-like peptide-1 (GLP-1) regulation. Safety evaluations included haematology and plasma biochemistry. DSS-treated mice showed elevated DAI scores, colon shortening, heightened inflammation, and organ enlargement. Combination therapies significantly ameliorated colitis, reducing DAI, MPO activity, and inflammatory cytokines, while restoring colon length and GLP-1 levels-without inducing liver or kidney toxicity. These findings demonstrate that combining a low dose of CBD with standard IBD drugs enhances therapeutic efficacy while minimizing side effects, supporting its integration into future combination strategies for more effective and safer IBD management
A box-in-a-box: building the future inside the past. Franca Stagi in Modena
No full textThe architect Franca Stagi (Modena, 1937-2008) collaborated for more than twenty years with Cesare Leonardi producing residential and public projects and successful industrial design objects. After the division of the studio in the 1980s, Franca Stagi becomes the reference architect for Modena and she dedicates herself to the recovery and re-functionalization of the large historical buildings of the city center, to the design of greenery, to urban plans and to the construction of new places for the community. In the historic center of Modena, one can remember the functional recovery of Palazzo dei Musei (1995-98), the restoration of the Municipal Opera Theatre (1995-98) and the Synagogue (1995-97), the projects for the University, such as the recovery of the Sant’Eufemia convent (1994-1995) intended for the humanities faculties, the restoration of the Foro Boario, the cattle market (2002) which became the seat of the Faculty of Economics and the recovery of the extensive San Paolo cloisters (2005-07), which today houses the Faculty of Law, a library, two restaurants, a kindergarden and a music school. The quality, quantity and size of her works produced an ongoing project in synergy with associations, citizens (always involved with participatory methods), and with local authorities, in particular with the first female mayor of the city, the partisan Alfonsina Rinaldi.
The paper highlights the method adopted by Stagi when operating inside the large container buildings that represented the history of Modena, capital of the small but glorious Duchy of Este. After a careful restoration, which tells the story of the building at different historical thresholds, the new functions are built inside the monument as independent boxes, in order to establish a respectful dialogue between past and present.
The article aims to reconstruct the precious vision that Franca Stagi had for the city and its territory, expressed through structural projects punctuated by specific interventions designed in detail, without ever losing an overall view. This vision represents at the same time a geographical and historical perspective, which takes into account the peculiarities of a place and its past, without giving up on transforming it in order to give it a future
Do Sustainable Development Goal Disclosure Matter? Unpacking Value Relevance in the European Context
No full textThis study explores the value relevance of Sustainable Development Goal (SDG) disclosures by European listed firms, responding to calls for greater integration of sustainability into corporate strategy and reporting. Drawing on agency theory and voluntary disclosure theory, we examine whether the quality of SDG-related disclosures affects firm value, and how the environmental, social, and economic dimensions of such disclosures influence investor perceptions. Using a sample of European firms and a disclosure quality index, our results show that high-quality SDG disclosures are positively associated with market value, particularly when disclosures are substantive rather than symbolic. This study contributes to the growing discourse on the financial implications of non-financial disclosure, offering practical insights for corporate managers, regulators, and investors. It underscores the importance of credible and comprehensive SDG reporting in capital markets, particularly in light of evolving stakeholder expectations and regulatory pressures
Psychological and Clinical Factors Mediate Post-COVID-19 Irritable Bowel Syndrome
No full textBackground: Exposure to COVID-19 has been shown previously to be associated with a higher risk for irritable bowel syndrome (IBS). This study aimed to better explain this relationship using mediation analysis. Methods: This post hoc analysis of a multicenter cohort study includes 623 patients with and without COVID-19 infection. All participants completed the ROME IV criteria, gastrointestinal symptom rating scale (GSRS), and hospital anxiety and depression scale (HADS) over 1 year. Mediation analysis utilized the PROCESS macro and Baron and Kenny's method for parametric and nonparametric mediating variables, respectively. Key Results: The impact of COVID-19 on the development of post-COVID-19 IBS is completely mediated by dyspnea at baseline (adjusted OR = 3.561, p = 0.012), severity of acid regurgitation at 1 month [indirect effect, log-odds metric = 0.090, 95% CI (0.006–0.180)], hunger pains at 1 [indirect effect, log-odds metric = 0.094, 95% CI (0.024–0.178)], and 6 months [indirect effect, log-odds metric = 0.074, 95% CI (0.003–0.150)], depression at 6 [indirect effect, log-odds metric = 0.106, 95% CI (0.009–0.225)] and 12 months [indirect effect, log-odds metric = 0.146, 95% CI (0.016–0.311)] as well as borborygmus [indirect effect, log-odds metric = 0.095, 95% CI (0.009–0.203)], abdominal distention [indirect effect, log-odds metric = 0.162, 95% CI (0.047–0.303)], and increased flatus [indirect effect, log-odds metric = 0.110, 95% CI (0.005–0.234)] at 12 months. Conclusions and Inferences: Our findings provide evidence for psychological and clinical mediators between COVID-19 and post-COVID-19 IBS, which may be promising targets for interventions tailored for treating or preventing depression. The presence of specific GI symptoms at COVID-19 onset and their persistence should increase awareness of a potential new onset of IBS diagnosis