Publications by authors named "L Rigoli"

The gene was first identified in Wolfram Syndrome 1 (WS1), a rare autosomal recessive genetic disorder characterized by severe and progressive neurodegenerative changes. 's role in various cellular mechanisms, particularly in calcium homeostasis and the modulation of endoplasmic reticulum (ER) stress, suggests its potential involvement in the pathogenesis of Alzheimer's disease (AD) and sleep disorders. Because it is involved in maintaining ER balance, calcium signaling, and stress responses, plays a multifaceted role in neuronal health.

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Article Synopsis
  • * The disorder is caused by mutations in a gene on chromosome 4p16, which produces a protein called wolframin, crucial for cellular functions related to insulin signaling and stress response.
  • * Currently, there are no specific treatments for WS1; however, early diagnosis and genetic counseling can help manage symptoms and extend care to affected families, highlighting the need for ongoing research to find new therapies.
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Aims: Alcohol use disorder (AUD) is a common mental disorder characterized by sex-gender differences (SGDs). The present study was aimed at evaluating attitudes displayed by Italian AUD treatment services towards investigating the presence of SGDs in their patients and implementing gender-specific treatments for female AUD patients.

Methods: Potential SGDs were initially investigated in a sample of AUD outpatients, subsequently followed by a national survey on the adoption of specific interventions for female AUD outpatients.

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Unlabelled: A case of poorly cohesive NOS gastric carcinoma, characterised by high-grade tumour-associated tissue eosinophilia (TATE), is studied by transmission electron microscopy. Eosinophil clustering around single tumour cells constituted a recurrent ultrastructural hallmark. Some eosinophils were in intimate contact with tumour cells and exhibited extracellular trap cell death (ETosis): a non-apoptotic cell death process, recently described in non-neoplastic, eosinophil-associated diseases.

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Wolfram syndrome 1 (WS1) is a rare neurodegenerative disease transmitted in an autosomal recessive mode. It is characterized by diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA), and sensorineural hearing loss (D) (DIDMOAD). The clinical picture may be complicated by other symptoms, such as urinary tract, endocrinological, psychiatric, and neurological abnormalities.

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