Publications by authors named "Novelli M"

Objective: Gastric adenocarcinoma (GAC) is the 17th most common cancer in the UK with a 5-year survival rate of 22%. GastroPanel (Biohit Oyj; Helsinki, Finland) is an ELISA kit that measures pepsinogen I (PGI); pepsinogen II (PGII); gastrin-17 (G-17); and Helicobacter pylori IgG antibodies (Hp IgG). PGI and the PGI/PGII ratio correlate inversely with the severity of chronic atrophic gastritis (AG).

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Introduction: The evolving landscape of inflammatory bowel disease (IBD) necessitates refining colonoscopic surveillance guidelines. This study outlines methodology adopted by the British Society of Gastroenterology (BSG) Guideline Development Group (GDG) for updating IBD colorectal surveillance guidelines.

Methods And Analysis: The 'Grading of Recommendations, Assessment, Development and Evaluation' (GRADE) approach, as outlined in the GRADE handbook, was employed.

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The poor prognosis of relatively undifferentiated cancers has long been recognized, suggesting that selection against differentiation and in favor of uncontrolled growth is one of the most powerful drivers of cancer progression. Goblet cells provide the mucous surface of the gut, and when present in colorectal cancers (CRC), the cancers are called mucinous. We have used the presence of MUC2, the main mucous product of goblet cells, and an associated gene product, TFF3, to classify a large panel of nearly 80 CRC-derived cell lines into five categories based on their levels of MUC2 and TFF3 expression.

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Article Synopsis
  • In June 2023, a hospital started using a new robot system called Medtronic Hugo RAS for surgeries on the colon, aiming to improve how doctors perform these complex operations.
  • The study looked at 31 surgeries to see how well a new way of setting up the robot (called multi-docking) worked, especially how long it took to get the robot ready for surgery.
  • Results showed that with practice, doctors got faster at using the robot, reaching a good speed around the 15th surgery, which could help other doctors learning to use robot surgery too.
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Objective: To compare robotic-assisted proctectomy with ileal pouch-anal anastomosis (R-IPAA) outcomes and laparoscopic proctectomy with ileal pouch-anal anastomosis (L-IPAA) within a specialized robotic surgery center, using matching techniques to minimize potential confounding factors.

Summary Background Data: Minimally invasive approaches, particularly laparoscopy, have improved outcomes for IBD and FAP patients undergoing IPAA. Robotic-assisted surgery offers potential technical advantages, but its definitive superiority over laparoscopy in this context remains under debate.

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With histopathology results typically taking several days, the ability to stage tumors during interventions could provide a step change in various cancer interventions. X-ray technology has advanced significantly in recent years with the introduction of phase-based imaging methods. These have been adapted for use in standard labs rather than specialized facilities such as synchrotrons, and approaches that enable fast 3D scans with conventional x-ray sources have been developed.

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Article Synopsis
  • The GCH1 gene produces an enzyme essential for making tetrahydrobiopterin (BH4), crucial for monoamine neurotransmitter production; deficiencies can lead to various forms of dystonia and developmental issues.
  • The study reviewed 45 patients with arGTPCH deficiency, identifying three main phenotypes: early-infantile encephalopathy, dystonia-parkinsonism, and late-onset dopa-responsive dystonia (DRD).
  • Early pharmacological treatment is vital for the first two phenotypes to mitigate serious neurodevelopmental damage, and genotype analysis may help in quicker diagnosis and assessment of clinical severity.
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Stratification on important variables is a common practice in clinical trials, since ensuring cosmetic balance on known baseline covariates is often deemed to be a crucial requirement for the credibility of the experimental results. However, the actual benefits of stratification are still debated in the literature. Other authors have shown that it does not improve efficiency in large samples and improves it only negligibly in smaller samples.

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Mismatch repair (MMR)-deficient cancer evolves through the stepwise erosion of coding homopolymers in target genes. Curiously, the MMR genes MutS homolog 6 (MSH6) and MutS homolog 3 (MSH3) also contain coding homopolymers, and these are frequent mutational targets in MMR-deficient cancers. The impact of incremental MMR mutations on MMR-deficient cancer evolution is unknown.

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The rise of multi-drug-resistant (MDR) pathogenic bacteria presents a grave challenge to global public health, with antimicrobial resistance ranking as the third leading cause of mortality worldwide. Understanding the mechanisms underlying antibiotic resistance is crucial for developing effective treatments. Efflux pumps, particularly those of the resistance-nodulation-cell division (RND) superfamily, play a significant role in expelling molecules from bacterial cells, contributing to the emergence of multi-drug resistance.

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The phenomenon of mixed/heterogenous treatment responses to cancer therapies within an individual patient presents a challenging clinical scenario. Furthermore, the molecular basis of mixed intra-patient tumor responses remains unclear. Here, we show that patients with metastatic lung adenocarcinoma harbouring co-mutations of EGFR and TP53, are more likely to have mixed intra-patient tumor responses to EGFR tyrosine kinase inhibition (TKI), compared to those with an EGFR mutation alone.

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The aim of the present research was to explore the mechanisms underlying the role of dopamine in the regulation of insulin secretion in beta cells. The effect of dopamine on insulin secretion was investigated on INS 832/13 cell line upon glucose and other secretagogues stimulation. Results show that dopamine significantly inhibits insulin secretion stimulated by both glucose and other secretagogues, while it has no effect on the basal secretion.

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Phosphatidylethanol (PEth) is an alcohol derivative that has been employed as a blood-based biomarker for regular alcohol use. This study investigates the utility of phosphatidylethanol (PEth) as a biomarker for assessing alcohol consumption in post-mortem brain tissue. Using samples from the New South Wales Brain Tissue Resource Centre, we analysed PEth(16:0/18:1) levels in the cerebellum and meninges of individuals with varying histories of alcohol use, including those diagnosed with alcohol use disorder (AUD) and controls.

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The New South Wales Brain Tissue Resource Centre is a human brain bank that provides top-quality brain tissue for cutting-edge neuroscience research spanning various conditions from alcohol use disorder to neurodegenerative diseases. However, the conventional practice of preserving brain tissue in formalin poses challenges for immunofluorescent staining primarily due to the formalin's tendency, over time, to create cross-links between antigens, which can obscure epitopes of interest. In addition, researchers can encounter issues such as spectral bleeding, limitations in using multiple colors, autofluorescence, and cross-reactivity when working with long-term formalin-fixed brain tissue.

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Background: The introduction of laparoscopy in 1989 revolutionized surgical practices, reducing post-operative complications, and enhancing outcomes. Despite its benefits, limitations in laparoscopic tools have led to continued use of open surgery. Robotic-assisted surgery emerged to address these limitations, but its adoption trends and potential impact on open and laparoscopic surgery require analysis.

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Article Synopsis
  • Functional neurological symptom disorders (FNSD) are commonly encountered in clinical practice, especially in children, and can be mistaken for other medical issues due to their complex symptoms.
  • The review contrasts FNSD with various psychiatric and neurological disorders, clarifying that FNSD should be viewed as a diagnosis of inclusion, not just exclusion based on overlapping symptoms.
  • A key case study of a 14-year-old boy initially diagnosed with FNSD, later found to have paroxysmal kinesigenic dyskinesia, highlights the need for thorough assessment to avoid misdiagnosing FNSD and to identify true underlying conditions.
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Objectives: to evaluate the knowledge of Community Health Agents about dementia before and after the training workshop for detecting signs of the disease.

Methods: a quasi-experimental study with 33 community agents, in which sociodemographic information and knowledge about dementia were collected and assessed using the Alzheimer's Disease Knowledge Scale before and after the workshop. There were 10 weekly, online, synchronous meetings.

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Background: Cognitive functions represent foundational factors for mental health and quality of life (QoL). In Tourette syndrome (TS), psychiatric comorbidities are common and have been inconsistently reported to affect the cognition and QoL of patients, while the role of tic disorder duration has not been yet explored.

Methods: To examine how comorbidities and TS duration may influence cognition and QoL, = 80 children with TS (6-16 years) were evaluated using the Wechsler Intelligence Scale for Children (WISC-IV).

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Due to their increased cancer risk, patients with longstanding inflammatory bowel disease are offered endoscopic surveillance with concomitant histopathologic assessments, aimed at identifying dysplasia as a precursor lesion of colitis-associated colorectal cancer. However, this strategy is beset with difficulties and limitations. Recently, a novel classification criterion for colitis-associated low-grade dysplasia has been proposed, and an association between nonconventional dysplasia and progression was reported, suggesting the possibility of histology-based stratification of patients with colitis-associated lesions.

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Background: Grade 4 astrocytomas are usually incurable due to their diffusely infiltrative nature. Photodynamic therapy (PDT) is a promising therapeutic option, but external light delivery is impractical when cancer cells infiltrate unknown areas of normal brain. Hence the search for endogenous sources to generate light at cancer cells.

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Introduction: utism spectrum disorder (ASD) is a heterogeneous clinical condition, and its genetic basis is widely confirmed. The chromosomal microarray analysis (CMA) is a first-line diagnostic test that identifies copy number variants (CNVs). Some of these genomic rearrangements are associated with ASD, but the meaning of most of them is still unknown.

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Aim: To evaluate clinical phenotype and molecular findings of 157 cases with GNAO1 pathogenic or likely pathogenic variants delineating the clinical spectrum, course, and response to treatments.

Method: Clinical phenotype, genetic data, and pharmacological and surgical treatment history of 11 novel cases and 146 previously published patients were analyzed.

Results: Complex hyperkinetic movement disorder (MD) characterizes 88% of GNAO1 patients.

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