Publications by authors named "C Giorgianni"

Introduction: Multilocus Inherited Neoplasia Allele Syndrome (MINAS) is a condition defined by the presence of germline pathogenic variants in more than one Cancer Susceptibility Gene (CSG). MINAS is still underreported in the literature and public databases. Since MINAS-related phenotypes are difficult to predict, case descriptions may contribute to risk assessment, treatment, and personalized surveillance for proband and relatives.

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  • This study investigates how case-level American College of Medical Genetics (ACMG) criteria can clarify the pathogenicity of ultrarare variants causing Anderson-Fabry disease, especially when standard gene and variant-level analyses are inconclusive.
  • A 52-year-old woman presented symptoms like shortness of breath and chest pain, and family screening revealed affected and unaffected siblings, with some presenting with related symptoms indicating possible genetic connections to the disease.
  • Endomyocardial biopsies and advanced genetic testing initially classified a specific variant as uncertain, but incorporating functional data from biopsies and familial segregation eventually led to its reclassification as Likely Pathogenic/Pathogenic.
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  • The study explored the impact of clinical psychological factors on Health-Related Quality of Life (HR-QoL) in patients suffering from Severe Allergic Asthma (SAA) and Hymenoptera Venom Anaphylaxis (HVA).
  • Results indicated that patients with SAA had significantly lower HR-QoL scores and higher depressive symptoms compared to those with HVA.
  • Additionally, higher levels of alexithymia—difficulty identifying emotions—were linked to greater depression and anxiety, as well as lower vitality and mental health scores among participants.
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In the past few years, non-native blue crab has been expanding its range in the Adriatic and Mediterranean Seas. However, when non-indigenous species establish a lasting presence in a novel ecosystem and actively expand into other regions, posing potential risks to local biodiversity and economic harm, they are classified as invasive species. For this study, two different batches of blue crabs were collected: one from the Mediterranean Sea and the other from the Adriatic coast area.

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The incidence of respiratory and cutaneous allergic disorders may be variable if we consider work activity. These disorders are reported in the current literature to have a relevant psychosomatic involvement. The aim of the study was to submit a survey on the self-reported occurrence of allergic respiratory and cutaneous diseases in outdoor and indoor workers to verify the onset or exacerbations of such pathologies, encourage surveillance, and suggest the need for further studies.

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