Publications by authors named "D'oria V"

Background: Valve-sparing root replacement(VSRR) with the David technique is an established therapy for aortic root pathology in young patients. The aim of this study was to evaluate short and long-term outcomes between VSRR and aortic root replacement(ARR) with a biological-valved conduit in sexagenarians.

Methods: A multicenter retrospective review from 2002-2022 identified 299-sexagenarians undergoing aortic root surgery, among whom 82(27.

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Laminopathies represent a wide range of genetic disorders caused by mutations in gene-encoding proteins of the nuclear lamina. Altered nuclear mechanics have been associated with laminopathies, given the key role of nuclear lamins as mechanosensitive proteins involved in the mechanotransduction process. To shed light on the nuclear partners cooperating with altered lamins, we focused on Src tyrosine kinase, known to phosphorylate proteins of the nuclear lamina.

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Background: Hepatocellular carcinoma (HCC) exhibits an exceptional intratumoral heterogeneity that might influence diagnosis and outcome. Advances in digital microscopy and artificial intelligence (AI) may improve the HCC identification of liver cancer cells.

Aim: Two AI algorithms were designed to perform computer-assisted discrimination of tumour from non-tumour nuclei in HCC.

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Article Synopsis
  • * A study on a 16-year-old female patient with APS3A/B used whole-exome sequencing to uncover two genetic variants in the TIM-3 protein that may affect her autoimmune response and overall health.
  • * Additional analyses revealed that, despite similar TIM-3 fluorescence levels to healthy donors, the patient exhibited decreased TIM-3 expression, and unique mutations were found in her compared to a cohort of APS patients, highlighting the potential for new genetic insights in APS classification.
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  • Checkpoint immunotherapy struggles against non-immunogenic tumors like neuroblastoma due to low MHC class I expression and neoantigen burden, but inhibiting ERAP1 can enhance anti-tumor immune responses.
  • A novel strategy combining genetic knockout of ERAP1 with the HDAC inhibitor entinostat was developed, leading to increased immunogenicity and making neuroblastoma more responsive to PD-1 therapy.
  • Experimental methods included CRISPR/Cas9 gene editing, flow cytometry, and mass spectrometry to demonstrate that ERAP1 inhibition improves immune cell activity and increases MHC class I and PD-L1 expression in neuroblastoma cells, ultimately slowing tumor growth.
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Aim: Early childhood caries (ECC) represent a relevant public health issue in paediatric population globally. The current study aimed to investigate the main risk factors of this condition.

Methods: This is a cross-sectional study carried out at the Child Dentistry Clinics of the Istituto Stomatologico Italiano, Milan, Italy, including patients aged 12-71 months and their parents.

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  • Riboflavin transporter deficiency type 2 (RTD2) is a rare genetic disorder caused by mutations in the SLC52A2 gene, affecting riboflavin transporters and leading to neurodegeneration, particularly in motoneurons.
  • Previous research on RTD2 using human induced pluripotent stem cells (iPSCs) revealed issues with energy metabolism and cytoskeletal structure in affected motoneurons.
  • New findings show that astrocytes derived from RTD2 iPSCs maintain normal morphology and survival rates, suggesting that RTD2 does not impair astrocyte function like it does in motoneurons.
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Cannabidiol (CBD), a non-psychotomimetic constituent of Cannabis sativa, has been recently approved for epileptic syndromes often associated with Autism spectrum disorder (ASD). However, the putative efficacy and mechanism of action of CBD in patients suffering from ASD and related comorbidities remain debated, especially because of the complex pharmacology of CBD. We used pharmacological, immunohistochemical and biochemical approaches to investigate the effects and mechanisms of action of CBD in the recently validated Fmr1-exon 8 rat model of ASD, that is also a model of Fragile X Syndrome (FXS), the leading monogenic cause of autism.

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Background: The accurate assessment of resting energy expenditure (REE) is essential for personalized nutrition, particularly in critically ill children. Indirect calorimetry (IC) is the gold standard for measuring REE. This methodology is based on the measurement of oxygen consumption (VO) and carbon dioxide production (VCO).

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IL-37 is a member of the IL-1 superfamily exerting anti-inflammatory functions in a number of diseases. Extracellular IL-37 triggers the inhibitory receptor IL-1R8 that is known to regulate different NK cell pathways and functional activities including their anti-tumor effect. However, the effect of IL-37 on human NK cell functions is still to be unveiled.

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Cardiovascular diseases (CVDs) represent the leading cause of global mortality with 1.7 million deaths a year. One of the alternative systems to drug therapy to minimize the risk of CVDs is represented by alpha-linolenic acid (ALA), an essential fatty acid of the omega-3 series, known for its cholesterol-lowering effect.

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Microtubules are dynamic cytoskeletal structures involved in several cellular functions, such as intracellular trafficking, cell division and motility. More than other cell types, neurons rely on the proper functioning of microtubules to conduct their activities and achieve complex morphologies. Pathogenic variants in genes encoding for α and β-tubulins, the structural subunits of microtubules, give rise to a wide class of neurological disorders collectively known as "tubulinopathies" and mainly involving a wide and overlapping range of brain malformations resulting from defective neuronal proliferation, migration, differentiation and axon guidance.

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Due to the lipophilic nature of vitamin D, overweight and obese patients have an increased risk of inadequate circulating 25-hydroxy-vitamin D (25(OH)D) concentrations. Vitamin D deficiency has in turn several consequences especially among children and adolescents. Therefore, a few supplementation strategies of vitamin D for pediatric subjects with an excessive body weight have been proposed, but their efficacy remains controversial.

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Lower levels of omega-3 polyunsaturated fatty acids (PUFAs) have been described in individuals with reading difficulties, but the degree and the nature of such deficiencies as well as the role of nutrition are a matter of debate. The aim of the present study was to investigate the associations between PUFA blood levels, nutritional status, and reading/writing/phonological awareness performances in 42 school-age children with varying levels of reading ability. Significant correlations were found between PUFA levels (specific omega-6/omega-3 ratios), the ratio of omega-6-derived calories to the total amount of calories and reading scores.

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Background: Poor infiltration of functioning T cells renders tumors unresponsive to checkpoint-blocking immunotherapies. Here, we identified a combinatorial in situ immunomodulation strategy based on the administration of selected immunogenic drugs and immunotherapy to sensitize poorly T-cell-infiltrated neuroblastoma (NB) to the host antitumor immune response.

Methods: 975A2 and 9464D NB cell lines derived from spontaneous tumors of TH-MYCN transgenic mice were employed to study drug combinations able of enhancing the antitumor immune response using in vivo and ex vivo approaches.

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Cysteamine is currently the only therapy for nephropathic cystinosis. It significantly improves life expectancy and delays progression to end-stage kidney disease; however, it cannot prevent it. Unfortunately, compliance to therapy is often weak, particularly during adolescence.

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Article Synopsis
  • ARPC1B deficiency is an inborn error of immunity leading to combined immunodeficiency, recurrent infections, and low platelet counts, along with severe immune dysregulation symptoms like colitis and dermatitis.
  • The only potential cure currently available is hematopoietic stem cell transplantation.
  • This study identifies increased radiosensitivity in ARPC1B-deficient patients, which involves higher chromatid aberrations and cell cycle arrest after radiation exposure, suggesting a need for further investigation and tailored clinical management in these patients and others with similar immune deficiencies.
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Obese children are at high risk of developing vitamin D deficiency. Omega-3 polyunsaturated fatty acids and their derivatives might have a beneficial effect on vitamin D status of obese children, due to their anti-inflammatory action, and increasing its absorption. This multicenter, randomized, double-blind controlled study aims to investigate the effect of vitamin D and docosahexaenoic acid (DHA) co-supplementation for six months on vitamin D status, body composition, and metabolic markers of obese children with vitamin D deficiency.

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  • This study looks at how autistic kids might have problems with eating, especially those aged 1.5 to 5 years old.
  • It finds that these kids often have more feelings of sadness or anxiety and may also experience their senses differently compared to kids who don’t have feeding problems.
  • The researchers suggest that when helping autistic kids with eating issues, we should think about how they experience their senses, like making sure their eating environments are calm and not too loud.
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Background: Toll-like receptors (TLRs) are pattern-recognition sensors mainly expressed in innate immune cells that directly recognize conserved pathogen structures (pathogen-associated molecular patterns-PAMPs). Natural killer (NK) cells have been described to express different endosomal TLRs triggered by RNA and DNA sequences derived from both viruses and bacteria. This study was addressed to establish which endosomal TLR could directly mediate NK activation and function after proper stimuli.

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It is widely acknowledged that mammalian exosomes (or extracellular vesicles), have a key role in intercellular communication, owing to the presence of various bioactive molecules such as lipids, proteins, and microRNAs within their inner compartment. Most recently, the discovery of extracellular vesicles isolated from edible plants (such as vegetables and fruits) and their similarity in terms of size and content with exosomes has opened new perspectives on possible intercellular communication and regulation of important biological processes in which these vesicles are involved. It is also well-known that a balanced diet rich of fruits and vegetables (i.

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Introduction: Accurate assessment of resting energy expenditure (REE) can guide optimal nutritional prescription in critically ill children. Indirect calorimetry (IC) is the gold standard for REE measurement, but its use is limited. Alternatively, REE estimates by predictive equations/formulae are often inaccurate.

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Besides its structural properties in the nucleoskeleton, Lamin A/C is a mechanosensor protein involved in perceiving the elasticity of the extracellular matrix. In this study we provide evidence about Lamin A/C-mediated regulation of osteosarcoma cell adhesion and spreading on substrates with tissue-specific elasticities. Our working hypothesis is based on the observation that low-aggressive and bone-resident SaOS-2 osteosarcoma cells express high level of Lamin A/C in comparison to highly metastatic, preferentially to the lung, osteosarcoma 143B cells, thereby suggesting a role for Lamin A/C in tumor cell tropism.

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Down syndrome (DS) patients prematurely show clinical manifestations usually associated with aging. Their immune system declines earlier than healthy individuals, leading to increased susceptibility to infections and higher incidence of autoimmune phenomena. Clinical features of accelerated aging indicate that trisomy 21 increases the biological age of tissues.

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