Publications by authors named "Nardelli C"

Research has shown that heightened emotionality often precedes psychotic experiences. Understanding how individuals cope with these emotions is crucial for psychosis. While prior studies on emotion regulation (ER) and psychosis have mainly relied on self-report questionnaires, recent research has increasingly utilised daily life methods.

View Article and Find Full Text PDF
Article Synopsis
  • Jumping translocations (JT), linked to disease progression in myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML), involve the movement of a tri-tetra-somic 1q chromosome to various other chromosomes.
  • Research showed that in patients with SRSF2 mutations, JT was associated with changes in DNA methylation during treatment with 5'-azacytidine (AZA), revealing significant shifts in the methylome and impacting various biological pathways.
  • The study highlighted that epigenetic modifications, including changes in DNA methylation and specific signaling pathways like PI3K/AKT and MAPK, play a crucial role in the progression of myeloid neoplasms associated with
View Article and Find Full Text PDF

To date, the increased awareness of the impact of microbes on human health has promoted scientific interest in microbiome studies for diagnostic and therapeutic purposes, revealing correlations between specific taxa and cancer. In particular, numerous species of have been associated with several types of tumors. Previously, we studied the urobiome using Next-Generation Sequencing (NGS), and found an increase in in first morning urine of subjects affected by bladder cancer (BCa).

View Article and Find Full Text PDF
Article Synopsis
  • Scientists found a new type of genetic change called t(X;21) in some patients with blood diseases like myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML).
  • This change happened along with other mutations in certain genes, but it didn't create new fusion genes as might be expected.
  • They discovered that this genetic change is linked to the loss of two important genes (BCOR and RUNX1), which affects how cells behave in these diseases.
View Article and Find Full Text PDF
Article Synopsis
  • Research indicates that the urinary microbiome (urobiome) may play a role in bladder cancer (BCa) by causing chronic inflammation that can lead to cancer development, with different bacteria signatures noted among patients based on various factors.
  • The study analyzed the urobiome of 48 patients undergoing bladder tumor resection, comparing samples from those with BCa, benign tumors, and healthy individuals to identify potential cancer biomarkers.
  • The findings revealed specific bacterial patterns in BCa patients, especially in males over 50, but the study faced limitations due to the low quantity of microbial DNA in some samples, affecting the total number of analyzed BCa patients.
View Article and Find Full Text PDF

Our work reports implementation of a useful genetic diagnosis for the clinical managment of patients with astrocytic tumors. We investigated 313 prospectively recruited diffuse astrocytic tumours by applying the cIMPACT-NOW Update 3 signature. The cIMPACT-NOW Update 3 (cIMPACT-NOW 3) markers, i.

View Article and Find Full Text PDF

Objectives: Flexibility in self-regulation has emerged as an important component of mental health. Previous findings found that deficits in two components of regulatory flexibility were linked cross-sectionally to psychosis-proneness. We aimed to replicate and extend these findings longitudinally.

View Article and Find Full Text PDF

The evolution and the development of the symptoms of Coronavirus disease 19 (COVID-19) are due to different factors, where the microbiome plays a relevant role. The possible relationships between the gut, lung, nasopharyngeal, and oral microbiome with COVID-19 have been investigated. We analyzed the nasal microbiome of both positive and negative SARS-CoV-2 individuals, showing differences in terms of bacterial composition in this niche of respiratory tract.

View Article and Find Full Text PDF

BRCA1 and BRCA2 are the most mutated genes in breast cancer. We analyzed 48 breast cancer subjects using two methods that differ in terms of number of genes investigated and strategy used (primers: Panel A - 12 genes - vs probes: Panel B - 48 genes). Both the panels and procedures identified "pathogenic" or "likely pathogenic" variants in TP53, ATM, CHEK2 and BARD1 besides BRCA1 and BRCA2.

View Article and Find Full Text PDF

Self-compassion (SC) seems to play an important role in improving Emotion Regulation (ER). Nevertheless, the results of previous studies regarding the links between SC and ER are not consistent, especially facing diverse models of ER (strategy-based vs skill-based). The goal of this prospective study was to evaluate the links between these three concepts, by testing the predictive roles of SC and ER skills on both ER adaptive and maladaptive strategies, using standardised questionnaires and visual analogue scales.

View Article and Find Full Text PDF

Background: Voice hearing occurs across a number of psychiatric diagnoses and appears to be present on a continuum within the general population. Previous research has highlighted the potential role of past experiences of shame in proneness to voice hearing in the general population.

Aims: This study aimed to extend this past research and compare people with distressing voices, people with voices but no distress, and a non-voice hearing control group, on various dimensions of shame and shame memory characteristics.

View Article and Find Full Text PDF

Background: The detection of homologous recombination deficiency (HRD) can identify patients who are more responsive to platinum and poly ADP ribose polymerase inhibitors (PARPi). MyChoice CDx (Myriad) is the most used HRD test in ovarian cancer (OC). However, some limitations of commercial tests exist, because of the high rate of inconclusive results, costs, and the impossibility of evaluating functional resistance mechanisms.

View Article and Find Full Text PDF

Chromothripsis is a mitotic catastrophe that arises from multiple double strand breaks and incorrect re-joining of one or a few chromosomes. We report on incidence, distribution, and features of chromothriptic events in T-cell acute lymphoblastic leukemias (T-ALL). SNP array was performed in 103 T-ALL (39 ETP/near ETP, 59 non-ETP, and 5 with unknown stage of differentiation), including 38 children and 65 adults.

View Article and Find Full Text PDF
Article Synopsis
  • * Overweight/obese individuals have different microbiome compositions compared to normal-weight individuals, with specific bacteria more abundant in the overweight/obese healthy group and significantly increased in CRC patients' tumor and healthy tissues.
  • * The study suggests that changes in the gut microbiome may cause inflammation and contribute to CRC, with certain bacteria possibly linking obesity to a higher risk of developing the disease.
View Article and Find Full Text PDF

The outcome of patients with Hodgkin lymphoma (HL) has improved significantly in recent years, and now attention is increasingly being focused on the well-being of these young patients. This study aimed to analyse the influence of HL and its treatment on the spermatogenic status of 46 male HL patients with available spermiograms, treated between 2008 and 2016. Analysing prognostic factors at diagnosis, we found that the number of spermatozoa was reduced in stage III-IV; motility and vitality were reduced in stage III-IV and in the presence of B symptoms; and abnormal forms were increased in patients with elevated erythrocyte sedimentation rate (ESR) and low albumin.

View Article and Find Full Text PDF

Background: We report the case of a woman with non-Hodgkin lymphoma who remained positive on the molecular assay for SARS-CoV-2 for six months: she has never experienced a severe form of COVID-19 although in absence of seroconversion.

Methods: The whole SARS-CoV-2 genome analysis was performed by the CleanPlex SARS-CoV-2 Research and Surveillance NGS Panel (PARAGON GENOMICS, Hayward, USA).

Results: We found twenty-two mutations in SARS-CoV-2 genome and a novel deleterious ORF3a frameshift c.

View Article and Find Full Text PDF

To evaluate the expression of genes encoding cytokines, grow factors and cell cycle regulators in the proliferative endometrium of women with chronic endometritis (CE) compared to controls. We performed a case-control study on seven women with CE as diagnosed by hysteroscopy and histology (Cases) compared to six women without CE (Controls). All women underwent diagnostic hysteroscopy plus endometrial biopsy during the mid-proliferative phase of the menstrual cycle.

View Article and Find Full Text PDF

The partner and localizer of () is a major binding partner that participates in homologous recombination repair in response to DNA double-strand breaks. Germline alterations of the gene have recently been associated with a high risk of developing breast cancer. We investigated a 37-year-old Caucasian woman with breast cancer and family history of breast cancer using targeted next generation sequencing.

View Article and Find Full Text PDF

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) caused the pandemic Coronavirus Disease 2019 (COVID-19). This virus is highly transmissible among individuals through both droplets and aerosol leading to determine severe pneumonia. Among the various factors that can influence both the onset of disease and the severity of its complications, the microbiome composition has also been investigated.

View Article and Find Full Text PDF

It is believed that the approximate estimation of large sets and the exact quantification of small sets (subitizing) are supported by two different systems, the Approximate Number System (ANS) and Object Tracking System (OTS), respectively. It is a current matter of debate whether they are both impaired in developmental dyscalculia (DD), a specific learning disability in symbolic number processing and calculation. Here we tackled this question by asking 32 DD children and 32 controls to perform a series of tasks on visually presented sets, including exact enumeration of small sets as well as comparison of large, uncountable sets.

View Article and Find Full Text PDF

Obesity is a multifactorial disorder, and the gut microbiome has been suggested to contribute to its onset. In order to better clarify the role of the microbiome in obesity, we evaluated the metatranscriptome in duodenal biopsies from a cohort of 23 adult severely obese and lean control subjects using next generation sequencing. Our aim was to provide a general picture of the duodenal metatranscriptome associated with severe obesity.

View Article and Find Full Text PDF

Purpose: Chronic endometritis (CE) is a frequent hysteroscopic and histological finding which affects embryo transfer implantation during IVF-ICSI cycles. In particular, CE impairs proper decidualization and, subsequently, implantation. Although this correlation has been clearly clarified, a pathophysiological explanation assembling all the studies performed has not been elucidated yet.

View Article and Find Full Text PDF

The catalytic activity of human Telomerase Reverse Transcriptase (TERT) compensates for the loss of telomere length, eroded during each cell cycle, to ensure a correct division of stem and germinal cells. In human tumors, ectopic TERT reactivation, most frequently due to hotspot mutations in the promoter region (TERTp), i.e.

View Article and Find Full Text PDF