Publications by authors named "F Pieruzzi"

Article Synopsis
  • - Fabry disease (FD) is a rare genetic disorder causing issues in the kidneys, nervous system, and heart, with four treatment options: three enzyme replacement therapies (ERTs) and one pharmacological chaperone.
  • - Agalsidase beta and agalsidase alfa improve various organ functions and quality of life, with agalsidase beta possibly being more effective long-term; early treatment is crucial for optimal response.
  • - Migalastat benefits patients with specific gene variants by stabilizing kidney function and relieving some symptoms, but its neurological effects are unclear and further research is needed for direct treatment comparisons.
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Article Synopsis
  • Fabry Disease cardiomyopathy (FDc) and sarcomeric hypertrophic cardiomyopathy (HCM) show similar hypertrophic heart features, particularly anomalies of the mitral valve apparatus (AMVA), which were assessed in this study for better diagnosis and understanding of disease progression.
  • The study involved 80 Fabry patients and 40 HCM patients, utilizing cardiovascular magnetic resonance (CMR) imaging to measure various AMVA and compare groups with similar levels of left ventricular hypertrophy.
  • Results indicated that Fabry patients exhibited greater hypertrophy of papillary muscles compared to HCM patients, alongside significant anomalies like apical displacement, supporting the idea that AMVA may serve as early indicators in Fabry disease. *
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The development of reliable artificial intelligence (AI) algorithms in pathology often depends on ground truth provided by annotation of whole slide images (WSI), a time-consuming and operator-dependent process. A comparative analysis of different annotation approaches is performed to streamline this process. Two pathologists annotated renal tissue using semi-automated (Segment Anything Model, SAM)) and manual devices (touchpad vs mouse).

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Introduction: Despite major advances in the field of dialysis, there are still some unmet needs such as reducing inflammation through adequate depuration. It is well known that the wide spectrum of pro-inflammatory and pro-atherosclerotic uremic toxins are inefficiently removed by current dialysis techniques. Adsorption seems to be an extra tool to remove toxins, but its effect and optimization have not been widely studied.

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Background: Peripherally Inserted Central Catheters play an increasingly important role in Central Venous Access Devices. However, the use of these devices should be carefully considered in specific situations such as central catheterisation in patients with chronic kidney disease. When evaluating the feasibility of placement for a patient undergoing dialysis, the relationship between changes in circulating volume before and after dialysis treatment, and potential variations in the size of deep veins in the upper limbs, should be considered.

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