Publications by authors named "Gennaro V"

We describe a patient suffering from probable Kufs disease who developed a neuroleptic malignant syndrome (NMS) after use of an antipsychotic agent over some weeks during hospitalization due to neuropsychiatric symptoms. Transferred to the neurology department, the patient quickly developed catatonic features. She did not respond to usual medical treatment but did respond to electroconvulsive therapy (ECT).

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Objective: Pediatric rheumatology faces a looming supply-demand crisis. While strategies have been proposed to address the supply shortfall, investigation into the increased demand for pediatric rheumatic care has been limited. Herein, we analyze new patient visits to a large tertiary care pediatric rheumatology center to identify emerging trends in referrals and areas for potential intervention to meet this increased demand.

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Article Synopsis
  • - Juvenile idiopathic arthritis affects about 1 in 1000 children and can be linked to other inflammatory diseases like inflammatory bowel disease (IBD), where genetic factors, such as mutations in the CARD8 gene, may play a role in inflammation.
  • - A case involving a 7-year-old girl with right leg pain and rashes indicated active arthritis, accompanied by elevated inflammatory markers and a suspected CARD8 mutation, but her condition worsened despite initial treatments.
  • - Eventually diagnosed with Crohn’s disease after intensive symptoms and testing, she responded positively to a combination therapy involving Adalimumab, highlighting the connection between CARD8 mutations, IBD, and arthritis in children.
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Background: In cities suffering from heavy environmental pressure or pollution, it is extremely important to rapidly access municipal demographics that can be used as indicators of population health status. Among those, mortality rates represent the most reliable data as they are officially retained and available to municipality with high level of details, thus allowing epidemiological comparison between different neighborhoods of the city across several years. Our study was aimed at validating and propose as universally applicable approach the use of municipal demographics as first-line tool to rapidly assess population health and drive health policies or urban planning in cities characterized by heavy environmental pressure.

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The main objective of this study was to analyse the space-time epidemiological differences by sex during the 2009-2020 period in the total mortality recorded among residents in each of the 25 districts of the Genoa municipality, net of the age effect. The analysis was based on official statistical data relating to total mortality and on the resident population. An estimate of the expected deaths was made to calculate the sex-specific age-standardised mortality ratio (SMR).

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The SAGA coactivator complex is essential for eukaryotic transcription and comprises four distinct modules, one of which contains the ubiquitin hydrolase USP22. In yeast, the USP22 ortholog deubiquitylates H2B, resulting in Pol II Ser2 phosphorylation and subsequent transcriptional elongation. In contrast to this H2B-associated role in transcription, we report here that human USP22 contributes to the early stages of stimulus-responsive transcription, where USP22 is required for pre-initiation complex (PIC) stability.

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Aminoglycoside or colistin therapy may alter the renal tubular function without decreasing the glomerular filtration rate. This association has never been extensively investigated. We conducted a systematic review of the literature following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses recommendations.

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Leukocytoclastic small-vessel vasculitis of the skin (with or without systemic involvement) is often preceded by infections such as common cold, tonsillopharyngitis, or otitis media. Our purpose was to document pediatric (≤18 years) cases preceded by a symptomatic disease caused by an atypical bacterial pathogen. We performed a literature search following the Preferred Reporting of Systematic Reviews and Meta-Analyses guidelines.

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Mezei et al's letter (1) is an opportunity to provide more details about our study on pericardial and tunica vaginalis testis (TVT) mesothelioma (2), which is based on the Italian national mesothelioma registry (ReNaM): a surveillance system on mesothelioma, with individual asbestos exposure assessment. Incidence of pericardial mesothelioma has been estimated around 0.5 and 0.

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The law of March 2019 established the municipal epidemiological report to make easier the rapid and lowresource monitoring of the exposed population. Environmental observatory active in Trino since 2014 has equipped this tool and making the first evalution of the risk with census sections from 1970 to 2018. The result highlighted that overall mortality (for total gender) show a decreasing trend while for oncological diseases the results are more difficult to interpret especially in areas close to former industrial sites or contaminated sites.

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Background: as a legacy of the large asbestos consumption until the definitive ban in 1992, Italy had to tackle a real epidemic of asbestos related diseases. The Italian National Registry of Malignant Mesotheliomas (ReNaM) is a permanent surveillance system of mesothelioma incidence, with a regional structure. Aims, assignments and territorial network of ReNaM are described, as well as data collection, recording and coding procedures.

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Background: Malignant pleural mesothelioma (MPM) is a rare cancer with a poor prognosis. Centralization of rare cancer in dedicated centers is recommended to ensure expertise, multidisciplinarity and access to innovation. In Italy, expert centers for MPM have not been identified in all regions.

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Objectives The purposes of this study are to describe the epidemiology of pericardial and tunica vaginalis testis mesothelioma and assess the role of asbestos exposure for these rare diseases. Methods Based on incident pericardial and tunica vaginalis testis mesothelioma cases collected from the Italian national mesothelioma registry (ReNaM) in the period 1993-2015, incidence rates, survival median period and prognostic factors have been evaluated. A case-control study has been performed to analyze the association with asbestos exposure (occupational and non-occupational) for these diseases.

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Introduction: since 2000s, epidemiological studies conducted by the Italian Ministry of Defence on Italian soldiers sent on a mission abroad showed excess mortality and/or incidence for Hodgkin lymphomas and also a significant reduction of all tumours and of all diseases.

Objectives: this analysis aim to evaluate tumour incidence and overall mortality among Italian soldiers sent on a mission abroad (period 1996-2012; 3,663 cases). This investigation is preliminary to a more complete retrospective study on the cohort of soldiers affected by tumour (No.

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Background: The oncoprotein MYC has the dual capacity to drive cell cycle progression or induce apoptosis, depending on the cellular context. BAG1 was previously identified as a transcriptional target of MYC that functions as a critical determinant of this cell fate decision. The BAG1 protein is expressed as multiple isoforms, each having an array of distinct biochemical functions; however, the specific effector function of BAG1 that directs MYC-dependent cell survival has not been defined.

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Ataxia telangiectasia is a rare, multi system disease caused by ATM kinase deficiency. -knockout mice recapitulate premature aging, immunodeficiency, cancer predisposition, growth retardation and motor defects, but not cerebellar neurodegeneration and ataxia. We explored whether Atm loss is responsible for skeletal muscle defects by investigating myofiber morphology, oxidative/glycolytic activity, myocyte ultrastructural architecture and neuromuscular junctions.

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Overexpression of the deubiquitylase ubiquitin-specific peptidase 22 (USP22) is a marker of aggressive cancer phenotypes like metastasis, therapy resistance, and poor survival. Functionally, this overexpression of USP22 actively contributes to tumorigenesis, as USP22 depletion blocks cancer cell cycle progression in vitro, and inhibits tumor progression in animal models of lung, breast, bladder, ovarian, and liver cancer, among others. Current models suggest that USP22 mediates these biological effects via its role in epigenetic regulation as a subunit of the Spt-Ada-Gcn5-acetyltransferase (SAGA) transcriptional cofactor complex.

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Objective: To investigate the carcinogenicity of styrene by reanalysing data from a previous international cohort study of workers in the reinforced plastics industry.

Methods: Mortality from cancers of prior interest was analysed with more detailed consideration of exposure-response relations and an updated classification of leukaemias and lymphomas in data from a previous international cohort study of 37 021 reinforced plastics workers exposed to airborne styrene.

Results: Increased mortality from non-Hodgkin's lymphoma (NHL) was associated with the mean level of exposure to styrene in air (relative risk (RR) 2.

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Introduction: The epidemiology of gender differences for mesothelioma incidence has been rarely discussed in national case lists. In Italy an epidemiological surveillance system (ReNaM) is working by the means of a national register.

Methods: Incident malignant mesothelioma (MM) cases in the period 1993 to 2012 were retrieved from ReNaM.

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The unfolded protein response (UPR) is a stress-activated signalling pathway that regulates cell proliferation, metabolism and survival. The circadian clock coordinates metabolism and signal transduction with light/dark cycles. We explore how UPR signalling interfaces with the circadian clock.

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