Publications by authors named "Mancini C"

Introduction: Indoleamine-2,3-dioxygenase (IDO) converts L-tryptophan (T) to L-kynurenine (K) resulting in an immunosuppressive microenvironment. Aim of the current study is to evaluate in patients with neuroendocrine tumor (NET): 1) T and K concentrations; 2) correlation with clinical outcome; 3) relationship between IDO activity and inflammatory cytokines.

Methods: A cross-sectional study was performed to investigate the IDO pathway in patients in follow-up for NET.

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Background: In post-conflict Guatemala, Indigenous men's psychological distress has been linked to violence exposure, disrupted social support systems, and structural inequities.

Purpose: We aimed to document how communities themselves understand men's wellbeing and the factors that influence men's wellbeing.

Research Design And Study Sample: Fuzzy Cognitive Mapping with 20 stakeholder groups in Santiago Atitlán and Cuilco, Guatemala defined men's wellbeing in local terms and identified the influences community groups understood to promote and detract from men's wellbeing.

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Although clinically relevant, evidence for a protective effect of early secure attachment against the development of depressive symptoms in adulthood is still inconsistent. This study used a translational approach to overcome this limitation. The analysis of a non-clinical adult population revealed a moderating effect of secure attachment on depressive symptoms in women only.

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Diabetes mellitus (DM) and neuroendocrine tumors (NET) can exert unfavorable effects on each other prognosis. In this narrative review, we evaluated the effects of NET therapies on glycemic control and DM management and the effects of anti-diabetic therapies on NET outcome and management. For this purpose, we searched the PubMed, Science Direct, and Google Scholar databases for studies reporting the effects of NET therapy on DM as well as the effect of DM therapy on NET.

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Article Synopsis
  • The study examined how full vaccination and the timing of vaccinations affected SARS-CoV-2 infection rates among healthcare workers (HCWs) in Italy's Marche Region.
  • 81.2% of HCWs in the cohort were fully vaccinated, with factors such as age, role, and prior health status influencing vaccination rates.
  • Vaccination reduced infection risk by 77%, particularly for those vaccinated earlier, highlighting the need for effective vaccination strategies for all HCWs.
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Cancer cachexia is a multifactorial syndrome characterized by a progressive loss of body weight occurring in about 80% of cancer patients, frequently representing the leading cause of death. Dietary intervention is emerging as a promising therapeutic strategy to counteract cancer-induced wasting. Serine is the second most-consumed amino acid (AA) by cancer cells and has emerged to be strictly necessary to preserve skeletal muscle structure and functionality.

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  • - User-centered design methods from human-computer interaction (HCI) have improved the welfare of various animals but are not widely applied in farm animal settings, prompting the emergence of animal-computer interaction (ACI) aimed at benefiting both animals and humans.
  • - Despite advancements in HCI and ACI, their application in improving welfare for farm animals, especially dairy cows, swine, and poultry, is still lacking, indicating a need for innovation in these areas.
  • - The paper advocates for a shift towards animal-centered farming methods and the integration of HACI within precision livestock farming and artificial intelligence to enhance animal welfare, aligning with the 'One Welfare' approach that considers broader societal benefits.
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  • Research Focus
  • : The study investigates how fatty acid metabolism impacts stem-like characteristics in intrahepatic cholangiocarcinoma (iCCA), a serious type of liver cancer.
  • Key Findings
  • : Cancer cells with stem-like features (SPH) have higher levels of free fatty acids and lipid synthesis enzymes compared to regular cells. Inhibition of fatty acid synthase (FASN) reduces these stem characteristics and tumor growth in lab models.
  • Clinical Implications
  • : Targeting fatty acid metabolism could provide new strategies for treating iCCA, potentially improving patient survival and slowing disease progression.
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  • Microglia, the immune cells in the brain, contribute to neuroinflammation and aging, both of which increase the risk of neurodegenerative disorders like Alzheimer's disease (AD).
  • This study examines the effects of Honokiol (HNK), a natural compound, and its synthetic version, Honokiol Hexafluoro (CH), on reducing inflammation and cellular aging in microglia cells.
  • Results show that both HNK and CH effectively reduce harmful inflammation, improve anti-inflammatory responses, and inhibit markers of cellular senescence, suggesting their potential as therapeutic agents in treating age-related neurodegenerative diseases.
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  • Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare metabolic disorder caused by genetic mutations, affecting the body's ability to process fatty and amino acids, occurring in about 1 in 200,000 live births.
  • MADD manifests in three ways: severe neonatal-onset, which may include additional congenital anomalies, and a milder late-onset variant, with diagnosis supported by advanced urine and blood tests.
  • Researchers successfully diagnosed a newborn with a unique intronic mutation using whole-genome and RNA sequencing, emphasizing the need to analyze RNA to uncover hidden genetic issues that typical methods might miss.
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  • Bardet-Biedl syndrome (BBS) is a rare genetic disorder with symptoms like vision loss, obesity, extra fingers or toes, cognitive issues, and genitourinary defects, caused by mutations in various genes.
  • An 18-year-old boy showing symptoms of BBS underwent genetic testing, but initial methods didn't provide a clear diagnosis until whole-genome sequencing revealed two significant genetic changes affecting the BBS9 protein.
  • The study emphasizes the importance of whole-genome sequencing for diagnosing rare diseases and highlights the need for functional validation to better understand the impact of genetic variants.
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Evaluate the prevalence of genetic factors in a large population of infertile subjects and define the seminological, hormonal, and ultrasonographic features for each alteration. : This single-center retrospective study included male partners of infertile couples undergoing genetic investigations due to oligozoospermia or azoospermia evaluated from January 2012 to January 2022. The genetic investigations consist of karyotype, gene mutations plus variant of the IVS8-5T polymorphic trait, Y chromosome microdeletion, and Next Generation Sequencing panel to analyze genes implicated in congenital hypogonadotropic hypogonadism (CHH).

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While it is widely thought that de novo mutations (DNMs) occur randomly, we previously showed that some DNMs are enriched because they are positively selected in the testes of aging men. These "selfish" mutations cause disorders with a shared presentation of features, including exclusive paternal origin, significant increase of the father's age, and high apparent germline mutation rate. To date, all known selfish mutations cluster within the components of the RTK-RAS-MAPK signaling pathway, a critical modulator of testicular homeostasis.

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Objective: We sought to determine the impact of hydroxychloroquine (HCQ) dose on the risk of hospitalizations for systemic lupus erythematosus (SLE).

Methods: We conducted a case-crossover study within an academic health system, including patients with SLE who used HCQ and had ≥1 hospitalization for active SLE between January 2011 and December 2021. Case periods ended in hospitalization for SLE, whereas control periods did not.

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Pathogenic, largely truncating variants in the ETS2 repressor factor (ERF) gene, encoding a transcriptional regulator negatively controlling RAS-MAPK signaling, have been associated with syndromic craniosynostosis involving various cranial sutures and Chitayat syndrome, an ultrarare condition with respiratory distress, skeletal anomalies, and facial dysmorphism. Recently, a single patient with craniosynostosis and a phenotype resembling Noonan syndrome (NS), the most common disorder among the RASopathies, was reported to carry a de novo loss-of-function variant in ERF. Here, we clinically profile 26 individuals from 15 unrelated families carrying different germline heterozygous variants in ERF and showing a phenotype reminiscent of NS.

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Neuroendocrine neoplasms (NENs), arising from various sites, present therapeutic challenges. Radioligand therapy (RLT) is effective for unresectable/metastatic NENs with increased somatostatin receptor uptake. While evidence supports RLT's efficacy in midgut NETs, its role in lung NETs remains underexplored.

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Utilizing trio whole-exome sequencing and a gene matching approach, we identified a cohort of 18 male individuals from 17 families with hemizygous variants in KCND1, including two de novo missense variants, three maternally inherited protein-truncating variants, and 12 maternally inherited missense variants. Affected subjects present with a neurodevelopmental disorder characterized by diverse neurological abnormalities, mostly delays in different developmental domains, but also distinct neuropsychiatric signs and epilepsy. Heterozygous carrier mothers are clinically unaffected.

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Animals under human care are exposed to a potentially large range of both familiar and unfamiliar humans. Human-animal interactions vary across settings, and individuals, with the nature of the interaction being affected by a suite of different intrinsic and extrinsic factors. These interactions can be described as positive, negative or neutral.

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The involvement of animals in research procedures that can harm them and to which they are deemed unable to consent raises fundamental ethical dilemmas. While current ethical review processes emphasize the application of the 3Rs (Replacement, Reduction, and Refinement), grounded in a human-centered utilitarian ethical approach, a comprehensive ethical review also involves a harm-benefit analysis and the consideration of wider ethical issues. Nevertheless, to our knowledge, approaches are still needed to facilitate the integrative assessment and iterative revision of research designs to improve their ethical value or to identify cases in which using animals is irremediably unethical.

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Article Synopsis
  • The MRPS36 gene is crucial for the 2-oxoglutarate dehydrogenase complex, which plays a significant role in the Krebs cycle, and defects in this gene lead to serious metabolic disorders including developmental delays and neurological issues.
  • Researchers studied two siblings with Leigh syndrome and identified a specific mutation in the MRPS36 gene that impacts enzyme function without affecting protein levels.
  • The findings suggest that MRPS36 mutations contribute to Leigh syndrome, with elevated plasma glutamate and glutamine potentially serving as biomarkers for this condition.
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The semiconductor industry is undergoing a transformative phase, marked by the relentless drive for miniaturization and a constant demand for higher performance and energy efficiency. However, the reduction of metal-oxide-semiconductor field-effect transistor sizes for advanced technology nodes below 10 nm presents several challenges. In response, strained silicon technology has emerged as a key player, exploiting strain induction in the silicon crystal lattice to improve device performance.

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Tip-enhanced Raman spectroscopy (TERS) is an advanced technique to perform local chemical analysis of the surface of a sample through the improvement of the sensitivity and the spatial resolution of Raman spectroscopy by plasmonic enhancement of the electromagnetic signal in correspondence with the nanometer-sized tip of an atomic force microscope (AFM). In this work, TERS is demonstrated to represent an innovative and powerful approach for studying extracellular vesicles, in particular bovine milk-derived extracellular vesicles (mEVs), which are nanostructures with considerable potential in drug delivery and therapeutic applications. Raman spectroscopy has been used to analyze mEVs at the micrometric and sub-micrometric scales to obtain a detailed Raman spectrum in order to identify the 'signature' of mEVs in terms of their characteristic molecular vibrations and, therefore, their chemical compositions.

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We introduce a new scanning probe microscopy (SPM) concept called reverse tip sample scanning probe microscopy (RTS SPM), where the tip and sample positions are reversed as compared to traditional SPM. The main benefit of RTS SPM over the standard SPM configuration is that it allows for simple and fast tip changes. This overcomes two major limitations of SPM which are slow data acquisition and a strong dependency of the data on the tip condition.

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Purpose: The diagnosis of insulinoma can be challenging, requiring documentation of hypoglycaemia associated with non-suppressed insulin and C-peptide, often achieved during a prolonged 72 h fast performed in inpatient setting. Our goal is to predict weather a shorter outpatient fasting test initiated overnight and prolonged up until 24 h could be a sensitive method for diagnosing insulinoma.

Methods: We conducted a retrospective monocentric study on subjects admitted to our Unit of Endocrinology from 2019 to 2022 for clinical suspicion of insulinoma and underwent the short fasting test.

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