Publications by authors named "A Rubartelli"

Fidelity of intercellular communication depends on unambiguous interactions between protein ligands and membrane receptors. Most proteins destined to the extracellular space adopt the required three-dimensional shape as they travel through the endoplasmic reticulum (ER), Golgi complex, and other organelles of the exocytic pathway. However, some proteins, many of which are involved in inflammation, avoid this classical secretory route and follow unconventional pathways to leave the cell.

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Background: Despite the widespread clinical use of hypoabsorptive metabolic bariatric surgery, very long-term outcomes are still lacking. The aim of the study was to assess the long-term safety and efficacy of biliopancreatic diversion at 30 years in patients with class 3 obesity (BMI over 40 kg/m2).

Methods: This retrospective single-centre study used data from a prospectively collected database on a sample of consecutive patients submitted to biliopancreatic diversion with a minimum follow-up of 30 years.

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Syndrome of undifferentiated recurrent fever (SURF) is characterized by recurrent fevers, a lack of confirmed molecular diagnosis, and a complete or partial response to colchicine. Despite the clinical similarities to familial Mediterranean fever (FMF), the underlying inflammatory mechanisms of SURF are not yet understood. We here analyzed the in vitro activation of the pyrin inflammasome in a cohort of SURF patients compared to FMF and PFAPA patients.

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Autoinflammatory diseases are a group of distinct disorders characterized by recurrent fever and inflammatory manifestations predominantly mediated by cytokines of the innate immune system, particularly IL-1β, without involvement of autoantibodies or autoreactive T lymphocytes. Cryopyrin-associated periodic syndromes (CAPS), due to NLRP3 gene mutations, represent the prototype of these diseases. Owing to their genetic nature, most of these disorders have an early onset, ranging from the first hours to the first decade of life.

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Article Synopsis
  • Autoinflammatory diseases are inherited and multifactorial disorders marked by excessive innate immune response, mainly due to the hyperactivity of the NLRP3 inflammasome and increased IL-1β secretion.
  • Researching these diseases is challenging due to their rarity, the young age of patients, and issues with modifying gene expression in primary immune cells.
  • Studying freshly drawn blood monocytes from patients with IL-1-mediated diseases helps ensure that findings are relevant to the disease's development and not affected by long-term cell culture or gene manipulation methods.
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