Publications by authors named "C F Zambon"

Background: Advances in analytical methods have recently paved the way to Alzheimer's disease (AD) biomarkers testing in blood along with the more established CSF testing. To ensure a forthcoming application of this low-invasive diagnostic that might allow to recognize early onset of dementia, appropriate pathological cut-points need to be defined.

Methods: In this cross-sectional study we measured blood and CSF neurofilament light chain (NFL), phosphorylated tau (pTau 181), Amyloid-β1-42 (AB 1-42) and Amyloid-β1-40 (AB 1-40) on a fully automated chemiluminescent platform (Lumipulse, Fujirebio) in 80 cognitively impaired patients and 55 cognitively unimpaired subjects.

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Cystic fibrosis is a highly prevalent genetic disorder caused by biallelic pathogenic variants in the gene, causing an altered function of the exocrine glands and a subsequent spectrum of hypofunctional and degenerative manifestations. The increasing availability of carrier screening programmes, the enhanced life expectancy of patients due to improved treatment and care strategies and the development of more precise and affordable molecular diagnostic tools have prompted a rise in demand of prenatal diagnosis procedures for at-risk couples, including Preimplantation Genetic Testing (PGT). However, challenges remain: heterogeneity among screening programmes, nuances of variant interpretation and availability of novel treatments demand a considerate and knowledgeable approach to genetic counselling.

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Introduction: Anterior displacement of the temporomandibular joint (TMJ) disc is a disorder in which the articular disc is dislocated from its correct position relative to the mandibular condyle and mandibular fossa. Traditionally, the initial treatment of disc displacements involves various conservative measures, including the use of a stabilizing interocclusal splint. However, in cases where there is associated limited mouth opening, as in the case of anterior disc displacement with reduction and intermittent block (ADDwRIB), and anterior disc displacement without reduction (ADDw/oR), arthrocentesis has been suggested as another modality of initial treatment due to its faster effect in preventing disease progression to a more advanced stage, as well as reducing the chances of pain chronification and central sensitization.

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Objective: Cardiovascular disease (CVD) accounts for most deaths in patients with type 1 diabetes (T1D); however, the determinants of plaque composition are unknown. miRNAs regulate gene expression, participate in the development of atherosclerosis, and represent promising CVD biomarkers. This study analyzed the circulating miRNA expression profile in T1D with either carotid calcified (CCP) or fibrous plaque (CFP).

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Synovial chondromatosis of the temporomandibular joint (TMJ) is a rare disease characterized by cartilaginous metaplasia of the mesenchymal remnants of the synovial membrane with formation of loose cartilaginous nodules. It is prevalent in middle-aged women and the main clinical characteristics are swelling, pain, and limited jaw movements. Diagnosis is difficult, especially in the early stages, because the signs and symptoms are like other TMJ diseases such as internal derangements and tumors.

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