Publications by authors named "M Bertacchi"
Introduction: The Swiss allocation system for kidney transplantation has evolved over time to balance medical urgency, immunological compatibility, and waiting time. Since the introduction of the transplantation law in 2007, which imposed organ allocation on a national level, the algorithm has been optimized. Initially based on waiting time, HLA compatibility, and crossmatch performed by cell complement-dependent cytotoxicity techniques, the system moved in 2012 to a score including HLA compatibility, waiting time, anti-HLA antibodies detected by the Luminex technology, and a virtual crossmatch.
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- The study investigates how the morphogen FGF8 affects the development of brain-like structures derived from human stem cells, specifically focusing on its role in establishing cellular diversity and regional identities during early brain development.
- FGF8 treatment led to the formation of various brain regions within the organoids, influencing the identity of neural progenitor cells and the ratio of different types of neurons (GABAergic and glutamatergic).
- The research highlights FGF8's critical role in regulating genes linked to neurodevelopmental disorders, suggesting its potential involvement in both healthy brain development and related pathological conditions.
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- Circulatory shock and multi-organ failure happen when the body doesn't get enough oxygen, making patients really sick.
- The study looked at how well the tiny blood vessels (capillaries) can work in patients with and without circulatory shock by checking their blood flow after giving them nitroglycerin.
- Results showed that patients with circulatory shock had lower blood flow in their capillaries, even after treatment, but some other heart measures were higher compared to those who weren't in shock.
Deciphering the structural effects of gene variants is essential for understanding the pathophysiological mechanisms of genetic diseases. Using a neurodevelopmental disorder called Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) as a genetic disease model, we applied structural bioinformatics and Genetic Code Expansion (GCE) strategies to assess the pathogenic impact of human NR2F1 variants and their binding with known and novel partners. While the computational analyses of the NR2F1 structure delineated the molecular basis of the impact of several variants on the isolated and complexed structures, the GCE enabled covalent and site-specific capture of transient supramolecular interactions in living cells.
View Article and Find Full Text PDFThe formation and maturation of the human brain is regulated by highly coordinated developmental events, such as neural cell proliferation, migration and differentiation. Any impairment of these interconnected multi-factorial processes can affect brain structure and function and lead to distinctive neurodevelopmental disorders. Here, we review the pathophysiology of the Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS; OMIM 615722; ORPHA 401777), a recently described monogenic neurodevelopmental syndrome caused by the haploinsufficiency of gene, a key transcriptional regulator of brain development.
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