Publications by authors named "G Bonato"
Background And Aim: In surgically altered anatomy (SAA), endoscopic retrograde cholangiopancreatography (ERCP) can be challenging, and it remains debatable the choice of the optimal endoscopic approach within this context. We aim to show our experience and evaluate the technical and clinical success of endoscopic treatment performed in the setting of adverse events (AE) after pancreaticoduodenectomy (PD).
Methods: This study was conducted on a retrospective cohort of patients presenting biliopancreatic complications after PD from 01/01/2012 to 31/12/2022.
Article Synopsis
- Parkinson's disease (PD) is a complex disorder influenced by genetic factors, with this study focusing on a cohort from Northeastern Italy to explore its genetic basis and clinical characteristics.
- Using a next-generation sequencing (NGS) panel, researchers identified 133 genetic variants in 218 PD patients, diagnosing monogenic PD in 20% of them, primarily linked to mutations in the GBA1, LRRK2, and PRKN genes.
- The findings suggest that certain clinical criteria, like early age of onset, can reliably predict positive genetic test outcomes, which helps in managing patient care and opens avenues for future therapies targeting specific genetic causes of the disease.
Article Synopsis
- - Primary Familial Brain Calcification (PFBC) is a rare condition mainly affecting adults, characterized by abnormal calcium deposits in the brain, leading to movement disorders like parkinsonism and various non-motor symptoms that need further exploration.
- - In a study of 50 PFBC patients, genetic testing revealed mutations in some patients and highlighted symptoms such as headaches, anxiety, depression, sleep disturbances, and constipation, with cognitive issues found in more than half of the cohort.
- - The findings suggest that non-motor symptoms are common among PFBC patients and emphasize the importance of thorough assessments to address the diverse needs of these individuals.
Introduction: Gaucher's disease (GD) is caused by biallelic mutations in the GBA1 gene, leading to reduced glucocerebrosidase (GCase) activity and substrate (glucosylceramide and glucosylsphingosine, GlcSph) accumulation. GBA1 variant carriers are at risk of Parkinson's disease (PD), but only those with biallelic mutations cross the threshold of GCase reduction, leading to substrate accumulation and GD. The link between GBA1 mutations, GD and PD is not fully understood.
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