Publications by authors named "Carlo-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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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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The cytochrome P450 (CYP)4F2 gene is known to influence mean coumarin dose. The aim of the present study was to undertake a meta-analysis at the individual patients level to capture the possible effect of ethnicity, gene-gene interaction, or other drugs on the association and to verify if inclusion of CYP4F2*3 variant into dosing algorithms improves the prediction of mean coumarin dose. We asked the authors of our previous meta-analysis (30 articles) and of 38 new articles retrieved by a systematic review to send us individual patients' data.

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Telomere deregulation is a hallmark of cancer. Telomere length measured in lymphocytes (LTL) has been shown to be a risk marker for several cancers. For pancreatic ductal adenocarcinoma (PDAC) consensus is lacking whether risk is associated with long or short telomeres.

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Purpose: A previous trial failed to demonstrate the superiority of a demographic-genetic algorithm in predicting warfarin (W) dose over a standard clinical approach. The purpose of the present study is to re-analyse the results in subgroups of patients with differing baseline sensitivity to W, integrated with additional pharmacokinetic data.

Methods: The original trial allocated 180 treatment-naïve patients with non-valvular atrial fibrillation to a control arm (CTL, n = 92) or a genetic-guided arm (GEN, n = 88).

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Pancreatic neuroendocrine neoplasms (pNEN) account for less than 5% of all pancreatic neoplasms and genetic association studies on susceptibility to the disease are limited. We sought to identify possible overlap of genetic susceptibility loci between pancreatic ductal adenocarcinoma (PDAC) and pNEN; therefore, PDAC susceptibility variants (n = 23) from Caucasian genome-wide association studies (GWAS) were genotyped in 369 pNEN cases and 3277 controls from the PANcreatic Disease ReseArch (PANDoRA) consortium to evaluate the odds associated with pNEN risk, disease onset and tumor characteristics. Main effect analyses showed four PDAC susceptibility variants-rs9854771, rs1561927, rs9543325 and rs10919791 to be associated with pNEN risk.

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Article Synopsis
  • Pancreatic ductal adenocarcinoma (PDAC) has a very low five-year survival rate of less than 6% and is linked to chronic pancreatitis (CP), which significantly raises PDAC risk.* -
  • The study investigated five genetic variants (SNPs) previously associated with CP to see if they contribute to PDAC risk, studying a large group of participants.* -
  • While one SNP showed a weak link to PDAC risk, the findings indicate that these specific variants are more closely associated with CP susceptibility rather than PDAC, suggesting no shared genetic risk factors between the two conditions.*
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Pancreatic neuroendocrine tumors (PNETs) are rare neoplasms for which very little is known about either environmental or genetic risk factors. Only a handful of association studies have been performed so far, suggesting a small number of risk loci. To replicate the best findings, we have selected 16 SNPs suggested in previous studies to be relevant in PNET etiogenesis.

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Article Synopsis
  • The CDKN2A (p16) gene is crucial in pancreatic cancer development, with common mutations linked to both familial and sporadic cases.
  • A study analyzed 13 SNPs in 2,857 pancreatic ductal adenocarcinoma patients and 6,111 controls, revealing that the A allele of rs3217992 significantly raises pancreatic cancer risk.
  • The findings suggest that the CDKN2A/B region may connect the risk of pancreatic cancer with diabetes, highlighting its importance in cancer susceptibility.
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Aberrant let-7c microRNA (miRNA) expression has been observed in Helicobacter pylori-related gastric cancer (GC) but fragmentary information is available on the let-7c dysregulation occurring with each phenotypic change involved in gastric carcinogenesis. Let-7c expression was assessed (qRT-PCR) in a series of 175 gastric biopsy samples representative of the whole spectrum of phenotypic changes involved in H. pylori-related gastric oncogenesis including: i) normal gastric mucosa, as obtained from dyspeptic controls (40 biopsy samples); ii) non-atrophic gastritis (40 samples); iii) atrophic-metaplastic gastritis (35 samples); iv) intra-epithelial neoplasia (30 samples); v) GC (30 samples).

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Background: The role of PCa3 score in the diagnostics of prostate cancer (PCa) is still under debate, mainly due to the lack of a univocal cut-off useful alone or within nomograms proposed by Urologists. Aim of present study is to compare different PCA3 score cut-off values (20, 25, 35 and 50) observed in 734 patients with suspected PCa who were monitored for about three years with single or multiple biopsies.

Methods: 734 patients who underwent first prostate biopsy for suspected PCa were enrolled.

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Background: Data on quality indicators (QIs) should be collected over time in order to identify and continuously monitor clinical laboratory performance and to improve patient safety by identifying and implementing effective interventions. The aim of the present study was to ascertain whether the utilization of a set of quality indicators over a 3-year period resulted in an improvement in the efficiency and effectiveness of an individual laboratory.

Methods: Over a 3-year time interval (2009-2011), a series of 38 QIs covering all stages of the total testing process (21 in the pre-analytic, nine in the analytic and eight in the post-analytic phase) was monitored.

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The aim of this study was to evaluate whether there was any correlation between Helicobacter pylori-associated diseases and (1) H. pylori virulence genes or (2) IL-1B, IL-1RN, IFN-G, TNF-A, IL-10 genetic polymorphisms. Patients with non-cardia gastric cancer (NCGC, n=129) or benign gastroduodenal diseases (n=792) were studied.

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