Publications by authors named "Ermini S"

Acute necrotizing encephalopathy (ANE) is a severe neurological condition that is diagnosed clinically and upon specific radiological imaging. Medical treatment of this condition is uncertain, and timing is likely very important to minimize brain damage and systemic inflammation. The present case series describes three patients suffering from ANE secondary to influenza A/H1N1 infection during a recent outbreak, treated with increasingly aggressive anti-inflammatory approach, and with significantly different outcomes.

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Pancreatic ductal adenocarcinoma (PDAC) is one of the most lethal cancers with patients having unresectable or metastatic disease at diagnosis, with poor prognosis and very short survival. Given that genetic variation within autophagy-related genes influences autophagic flux and susceptibility to solid cancers, we decided to investigate whether 55,583 single nucleotide polymorphisms (SNPs) within 234 autophagy-related genes could influence the risk of developing PDAC in three large independent cohorts of European ancestry including 12,754 PDAC cases and 324,926 controls. The meta-analysis of these populations identified, for the first time, the association of the BID variant with an increased risk of developing the disease (OR = 1.

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Article Synopsis
  • CoRSIVs are regions in the genome with consistent DNA methylation patterns across tissues but show individual differences and are influenced by nearby genetic variants.
  • This study focused on investigating SNPs within CoRSIVs and their potential link to pancreatic ductal adenocarcinoma (PDAC) risk, analyzing data from over 14,000 patients and 247,000 controls.
  • The research identified that the A allele of SNP rs2976395 is linked to a higher risk of PDAC in Europeans and is associated with changes in DNA methylation and overexpression of the prostate stem cell antigen gene, highlighting the need for further functional studies.
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Pleiotropic variants (i.e., genetic polymorphisms influencing more than one phenotype) are often associated with cancer risk.

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Genome-wide association studies (GWAS) are a powerful tool for detecting variants associated with complex traits and can help risk stratification and prevention strategies against pancreatic ductal adenocarcinoma (PDAC). However, the strict significance threshold commonly used makes it likely that many true risk loci are missed. Functional annotation of GWAS polymorphisms is a proven strategy to identify additional risk loci.

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Coding sequence variants comprise a small fraction of the germline genetic variability of the human genome. However, they often cause deleterious change in protein function and are therefore associated with pathogenic phenotypes. To identify novel pancreatic ductal adenocarcinoma (PDAC) risk loci, we carried out a complete scan of all common missense and synonymous SNPs and analysed them in a case-control study comprising four different populations, for a total of 14 538 PDAC cases and 190 657 controls.

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Article Synopsis
  • Modern non-Africans have 1-3% Neandertal DNA due to interbreeding events that occurred 50,000-60,000 years ago, which may affect traits linked to diseases like pancreatic ductal adenocarcinoma (PDAC).
  • In this study, researchers examined how specific Neandertal-related genetic variations (aSNPs) correlate with PDAC risk in European and East Asian populations, using data from over 200,000 individuals.
  • While no significant link was found in Europeans, a specific allele in East Asians was associated with a 35% increased risk of developing PDAC, suggesting only a limited role of Neandertal genes in this cancer's risk.
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Pancreatic cancer has an incidence that almost matches its mortality. Only a small number of risk factors and 33 susceptibility loci have been identified. so Moreover, the relative rarity of pancreatic cancer poses significant hurdles for research aimed at increasing our knowledge of the genetic mechanisms contributing to the disease.

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Chimeric antigen receptor (CAR) T-cell therapy relies on T cells engineered to target specific tumor antigens such as CD-19 in B-cell malignancies. In this setting, the commercially available products have offered a potential long-term cure for both pediatric and adult patients. Yet manufacturing CAR T cells is a cumbersome, multistep process, the success of which strictly depends on the characteristics of the starting material, i.

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Introduction: Only a small number of risk factors for pancreatic ductal adenocarcinoma (PDAC) has been established. Several studies identified a role of epigenetics and of deregulation of DNA methylation. DNA methylation is variable across a lifetime and in different tissues; nevertheless, its levels can be regulated by genetic variants like methylation quantitative trait loci (mQTLs), which can be used as a surrogate.

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Background: Early-onset pancreatic cancer (EOPC) represents 5-10% of all pancreatic ductal adenocarcinoma (PDAC) cases, and the etiology of this form is poorly understood. It is not clear if established PDAC risk factors have the same relevance for younger patients. This study aims to identify genetic and non-genetic risk factors specific to EOPC.

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Importance: Low back and neck pain are often self-limited, but health care spending remains high.

Objective: To evaluate the effects of 2 interventions that emphasize noninvasive care for spine pain.

Design, Setting, And Participants: Pragmatic, cluster, randomized clinical trial conducted at 33 centers in the US that enrolled 2971 participants with neck or back pain of 3 months' duration or less (enrollment, June 2017 to March 2020; final follow-up, March 2021).

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Article Synopsis
  • * Researchers conducted a two-phase study with over 12,000 female participants focusing on single nucleotide polymorphisms (SNPs) related to hormone pathways, finding 14 significant associations initially, but none were validated in the replication phase.
  • * Though the study didn't confirm the influence of common polymorphisms on PDAC risk tied to hormone pathways, it did validate a link between variants in the NR5A2 gene and increased PDAC risk.
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The Stroop test evaluates the ability to inhibit cognitive interference. This interference occurs when the processing of one stimulus characteristic affects the simultaneous processing of another attribute of the same stimulus. Eye movements are an indicator of the individual attention load required for inhibiting cognitive interference.

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Introduction: Telomere length (TL) is a potential indicator of cancer predisposition; however, the multitude of techniques used to measure it causes the results to be heterogeneous and, in some cases, controversial. In the last years, several studies adopted a strategy based on TL-associated genetic variants to generate a polygenic score, often referred as teloscore, used in lieu of direct TL measurement. For pancreatic neuroendocrine neoplasms (PanNEN), this strategy has not been attempted yet.

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Although 21 pancreatic cancer susceptibility loci have been identified in individuals of European ancestry through genome-wide association studies (GWASs), much of the heritability of pancreatic cancer risk remains unidentified. A recessive genetic model could be a powerful tool for identifying additional risk variants. To discover recessively inherited pancreatic cancer risk loci, we performed a re-analysis of the largest pancreatic cancer GWAS, the Pancreatic Cancer Cohort Consortium (PanScan) and the Pancreatic Cancer Case-Control Consortium (PanC4), including 8,769 cases and 7,055 controls of European ancestry.

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Genetic factors play an important role in the susceptibility to pancreatic cancer (PC). However, established loci explain a small proportion of genetic heritability for PC; therefore, more progress is needed to find the missing ones. We aimed at identifying single nucleotide polymorphisms (SNPs) affecting PC risk through effects on micro-RNA (miRNA) function.

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Article Synopsis
  • The study examines the relationship between mitochondrial metabolism and pancreatic ductal adenocarcinoma (PDAC) risk, highlighting a lack of previous systematic investigations into the genetic variability associated with this link.
  • A two-phase analysis was conducted on a large group of almost 56,000 individuals, focusing on both mitochondrial and nuclear genetic variations related to mitochondrial function.
  • The results showed no significant association between genetic variations (n-mtSNPs or mtSNPs) and PDAC risk, suggesting that mitochondrial metabolism may not play a significant role in PDAC etiology despite prior hypotheses.
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Background: Manufacturing of human Mesenchymal Stromal Cells as advanced therapy medicinal product (ATMP) for clinical use involves an ex vivo expansion, which leads to a risk of contamination by microbiological agents. Even if manufacturing under Good Manufacturing Practice (GMP) license minimizes this risk, contamination of cell cultures by mycoplasmas still represents a widespread problem. Furthermore, the absence of mycoplasma contamination represents one of ATMPs release criteria.

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Hematopoietic progenitor cells (HPCs) cryopreservation have applications, especially in the autologous setting, allowing therapeutic use several years after collection. Cryopreservation aims to preserve the therapeutic properties of HPCs, and successful cryopreservation depends on several factors such as preservation procedures, biopreservation media, freezing rates, and thawing procedures. In this context, the choice of the freezing bag is critical as it provides mechanical protection during the freezing process.

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Background: PBSC collection using a blood cell separator in very low weight patients can be frequently complicated by severe adverse effects and technical difficulties.

Material And Methods: From March 2013 to January 2017, 14 PBSC collections were performed in 12 children weighing less than 10 kg, affected by different solid tumours. PBSC collection was performed with a "homemade" aseptically assembled circuit.

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There is considerable debate in the literature with relation to the best method to treat patients with chronic venous disease (CVD). CHIVA is an office-based treatment for varicose veins performed under local anesthesia. The aim of the technique is to lower transmural pressure in the superficial venous system and avoid destruction of veins.

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Background: The use of platelet lysate (PL) for the ex-vivo expansion of mesenchymal stromal/stem cells (MSCs) was initially proposed by Doucet et al. in 2005, as an alternative to animal serum. Moreover, regulatory authorities discourage the use of fetal bovine serum (FBS) or other animal derivatives, to avoid risk of zoonoses and xenogeneic immune reactions.

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