Publications by authors named "Bellini M"

Article Synopsis
  • - Primary sclerosing cholangitis (PSC) and primary biliary cholangitis (PBC) are chronic liver diseases that damage bile ducts and lead to liver fibrosis and cirrhosis, but no specific biomarkers exist to differentiate them.
  • - This study analyzed saliva samples from 6 PBC patients using advanced mass spectrometry, comparing the results with samples from PSC patients, and identified 40 proteins that were significantly deregulated in PSC.
  • - The research revealed that some of these proteins are involved in immune responses and cytoskeleton remodeling, suggesting that saliva could be a valuable source for discovering biomarkers to differentiate between PSC and PBC.
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Diffusion tensor imaging (DTI) and its parameters such as fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD), radial diffusivity (RD) are increasingly being used to assess peripheral nerve integrity alongside nerve conduction studies. This pilot study aims to compare DTI values of lumbar spinal nerve roots before (T0) and after (T1) treatment with an interspinous process device (IPD). Seven patients (5 females, 2 males; mean age: 68) suffering from neurogenic claudication and lumbar spinal canal and foraminal stenosis were evaluated.

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Spontaneous coronary artery dissection (SCAD) is a relevant non-atherosclerotic cause of acute coronary syndrome with a complex genetic architecture. Recent discoveries have highlighted the potential role of miRNAs and protein-coding genes involved in the processing of small RNAs in the pathogenesis of SCAD. Furthermore, there may be a connection between SCAD and the increased cardiovascular risk observed in fragile X premutation carriers as well as a correlation with pathogenetic variants in genes encoding for collagen and extracellular matrix, which are related to connective tissue disorders (CTDs).

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Cardiovascular (CV) disease is the major cause of mortality. Estrogens (E) exert multiple CV and neuroprotective effects. During menopause, CV and cognitive pathologies increase dramatically.

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Ni nanoparticles supported on graphene-based materials were tested as catalysts for the oxygen reduction reaction (ORR) to be used in anion exchange membrane fuel cells (AEMFCs). The introduction of N into the graphene structure produced an enhancement of electrocatalytic activity by improving electron transfer and creating additional active sites for the ORR. Materials containing both N and S demonstrated the highest stability, showing only a 3% performance loss after a 10 h stability test and therefore achieving the best overall performance.

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Background: The International Anorectal Physiology Working Group (IAPWG) suggests a standardized protocol to perform high-resolution anorectal manometry. The applicability and possible limitations of the IAPWG protocol in performing three-dimensional high-definition anorectal manometry (3D-ARM) have still to be extensively evaluated.

Methods: The IAPWG protocol was applied in performing 3D-ARM.

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Chronic constipation (CC) is one of the most common disorders of gut-brain interaction (DGBI). The management of CC requires specific skills due to its complex and multifactorial pathophysiology and its multistep treatment. The aims of this study were to evaluate the availability and the use of diagnostic tools for CC in Italy and the therapeutic management of CC by Italian gastroenterologists (GEs).

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Background: Functional defecation disorders (FDD) are a common etiology of refractory chronic constipation (CC). FDD diagnosis (dyssynergic defecation [DD] and inadequate defecatory propulsion [IDP]), requires diagnostic tests including anorectal manometry (ARM) and balloon expulsion test (BET). Biofeedback (BF) is the treatment of choice for DD.

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Article Synopsis
  • Silver-Russell Syndrome (SRS) is a disorder that leads to growth failure, characteristic physical features, and feeding issues, with significant genetic causes remaining unclear in many cases.
  • The study aimed to assess the genetic variants in undiagnosed SRS patients and determine if (epi)genetic patients show distinct characteristics compared to genetic patients.
  • Findings revealed that only 9.1% of patients had identifiable pathogenic variants, emphasized body asymmetry as a key trait in (epi)genetic SRS, and recommended including IGF1R sequencing in the diagnostic process for SRS.
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  • A low-FODMAPs Diet (LFD) is a dietary strategy for managing irritable bowel syndrome (IBS), which requires personalization after an initial strict phase, particularly for patients who may also have fibromyalgia.
  • A study followed 51 IBS patients, including those with fibromyalgia, over an average of 62.5 months to assess their symptoms, adherence to the diet, and psychological status.
  • Results showed that while comorbid fibromyalgia had a minimal impact on overall IBS symptom relief and diet adherence, all patients experienced improvements, suggesting that the LFD can be effective for managing IBS symptoms in both populations.
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  • Visceral pain is a common digestive issue linked to conditions like inflammatory bowel diseases, and current treatments are inadequate, prompting research into new therapeutic compounds like GABA and Mo.
  • In a rat study, GABA-Mo (a mixture of GABA and Mo) was administered either preventively or curatively after inducing colitis to assess its effects on inflammation and pain response.
  • Results showed that GABA-Mo reduced visceral pain responses, decreased oxidative stress and inflammation markers in the colon, and improved intestinal barrier function, demonstrating both preventive and curative benefits in managing visceral pain and inflammation.
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Introduction: AADCd is an ultrarare, underdiagnosed neurometabolic disorder for which a screening test (3-OMD dosing on dried blood spot (DBS)) and targeted gene therapy (authorized in the EU and the UK) are available. Therefore, it is mandatory to raise awareness of presenting symptoms and signs among practitioners. Delivering scientifically sound information to promote screening of patients with the correct cluster of symptoms and signs would be critical.

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  • Childhood Onset Schizophrenia is a rare mental health issue seen in kids, and it can sometimes be linked to a genetic condition called 22q11.2 Deletion Syndrome.
  • The case focuses on a boy who had difficulties with communication, learning, and social skills from a young age, which later developed into Childhood Onset Schizophrenia.
  • The report highlights the need to check for 22q11.2 Deletion Syndrome in kids with this type of schizophrenia, especially if they have unusual brain features like Hippocampal Malrotation.
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  • The study explores the relationship between omega-3 fatty acids (ω3 FAs) deficiency in the brain and its link to cognitive issues and behavioral changes.
  • Researchers provided ω3 FA supplements to spontaneously hypertensive rats, which led to significant increases in ω3 levels in their cerebral cortex, affecting the brain-cell membrane's properties.
  • The findings indicate that ω3 fatty acids alter the organization and stability of brain membranes, highlighting their importance in brain health and potential implications for dietary fat's effects on cognitive function and diseases.
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Metformin (MTF) is the only biguanide included in the World Health Organization's list of essential medicines; representing a widespread drug in the management of diabetes mellitus. With its accessibility and affordability being one of its biggest assets, it has become the target of interest for many trying to find alternative treatments for varied pathologies. Over time, an increasing body of evidence has shown additional roles of MTF, with unexpected interactions of benefit in other diseases.

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  • - Evans syndrome (ES) is a rare condition without established treatment guidelines, prompting a survey of 64 Italian clinicians involved in managing autoimmune cytopenias to assess disease awareness and management practices.
  • - The survey revealed that the combination of autoimmune hemolytic anemia (AIHA) and immune thrombocytopenic purpura (ITP) is more prevalent than the combination involving neutropenia, with many patients having associated conditions like lymphoproliferative syndromes or autoimmune diseases.
  • - There was a notable variation in diagnostic test agreement among clinicians, indicating that while essential tests like blood counts were universally recognized, others like anti-platelet tests showed much less consensus; this highlights a need for more standardized treatment approaches for
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Background: No biomarkers are currently available to predict therapeutic response to ustekinumab (UST) in Crohn's disease (CD). The aim of this prospective study was to identify 1 or more cytokines able to predict mucosal healing in patients with CD treated with UST.

Methods: We prospectively enrolled consecutive CD patients treated with UST.

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The management of patients with diverticular disease remains challenging. The aim of this national survey was to assess how gastroenterologists and general practitioners use rifaximin to manage diverticulosis and diverticular disease. Members of the Italian Association of Hospital Gastroenterologists and Endoscopists (AIGO) and the Italian Federation of General Practitioners (FIMMG) were invited to complete a 39-item online survey concerning the use of rifaximin in five clinical settings: (1) diverticulosis; (2) reducing symptoms in symptomatic uncomplicated diverticular disease; (3) reducing the occurrence of diverticulitis in patients with symptomatic uncomplicated diverticular disease (primary prevention); (4) reducing the recurrence of diverticulitis in patients with previous attacks of diverticulitis (secondary prevention); (5) treatment of uncomplicated acute diverticulitis.

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Pathogenic, largely truncating variants in the ETS2 repressor factor (ERF) gene, encoding a transcriptional regulator negatively controlling RAS-MAPK signaling, have been associated with syndromic craniosynostosis involving various cranial sutures and Chitayat syndrome, an ultrarare condition with respiratory distress, skeletal anomalies, and facial dysmorphism. Recently, a single patient with craniosynostosis and a phenotype resembling Noonan syndrome (NS), the most common disorder among the RASopathies, was reported to carry a de novo loss-of-function variant in ERF. Here, we clinically profile 26 individuals from 15 unrelated families carrying different germline heterozygous variants in ERF and showing a phenotype reminiscent of NS.

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Cognitive impairment in Parkinson's disease is considered an indicator of the prodromal stages of this condition, occurring prior to the onset of classic and pathognomonic motor symptoms. Among other factors, neuroinflammation is increasingly recognized as a potential mediator of this neurodegenerative process, and glial cells are directly involved. However, the use of neurotrophic factors is associated with neuroprotection and cognitive improvements.

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