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- Piras, A, et al.
(author)
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Inhibition of autophagy delays motoneuron degeneration and extends lifespan in a mouse model of spinal muscular atrophy
- 2017
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In: Cell death & disease. - : Springer Science and Business Media LLC. - 2041-4889. ; 8:12, s. 3223-
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Journal article (peer-reviewed)abstract
- Spinal muscular atrophy (SMA) is a recessive autosomal neuromuscular disease, due to homozygous mutations or deletions in the telomeric survival motoneuron gene 1 (SMN1). SMA is characterized by motor impairment, muscle atrophy, and premature death following motor neuron (MN) degeneration. Emerging evidence suggests that dysregulation of autophagy contributes to MN degeneration. We here investigated the role of autophagy in the SMNdelta7 mouse model of SMA II (intermediate form of the disease) which leads to motor impairment by postnatal day 5 (P5) and to death by P13. We first showed by immunoblots that Beclin 1 and LC3-II expression levels increased in the lumbar spinal cord of the SMA pups. Electron microscopy and immunofluorescence studies confirmed that autophagic markers were enhanced in the ventral horn of SMA pups. To clarify the role of autophagy, we administered intracerebroventricularly (at P3) either an autophagy inhibitor (3-methyladenine, 3-MA), or an autophagy inducer (rapamycin) in SMA pups. Motor behavior was assessed daily with different tests: tail suspension, righting reflex, and hindlimb suspension tests. 3-MA significantly improved motor performance, extended the lifespan, and delayed MN death in lumbar spinal cord (10372.36 ± 2716 MNs) compared to control-group (5148.38 ± 94 MNs). Inhibition of autophagy by 3-MA suppressed autophagosome formation, reduced the apoptotic activation (cleaved caspase-3 and Bcl2) and the appearance of terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL)-positive neurons, underlining that apoptosis and autophagy pathways are intricately intertwined. Therefore, autophagy is likely involved in MN death in SMA II, suggesting that it might represent a promising target for delaying the progression of SMA in humans as well.
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- Gherardi, Silvia, et al.
(author)
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Quanto è «personal» il «Personal Health Record»? Tecnologia ed empowerment del paziente diabetico
- 2018
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In: Politiche sociali. - 2284-2098. ; 2, s. 179-200
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Journal article (peer-reviewed)abstract
- This paper explores the role and meaning of medical information against the backdrop of new digital tools that allow for new forms of data management and sharing within the healthcare management network. The research investigates data management practices by parents of children with Type 1 diabetes as they are enabled by a Personal Health Record to become stewards of their own medical information. The underlying assumption of this and similar technologies is that they would support patient-provided collaboration and reduce the information gap between clinical encounters. Drawing on a qualitative research design, the authors analyze data management and sharing practices among patients and healthcare providers before and after the introduction of a digital logbook for diabetes management in the pediatric department of a hospital in northern Italy. The paper reveals how patients interpreted their new roles in terms of restricting access to their information, rather than facilitating its dissemination, to preserve their own competence and independent management of the information regarding their «Personal» diseases
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