59 research outputs found
La novella bandelliana del "sepolto vivo" (III 1), ovvero l'importanza di essere Francesca
No full textThe Role of Autophagy in the Maintenance of Stemness and Differentiation of Mesenchymal Stem Cells
No full textRegulated self-consumption, also known as autophagy, is an evolutionary conserved process that degrades cellular components by directing them to the lysosomal compartment of eukaryotic cells. As a major intracellular degradation and recycling pathway, autophagy is crucial for maintaining and remodeling cellular homeostasis during normal cellular and tissue development. Recent studies have demonstrated that autophagy is necessary for the maintenance of cellular stemness and for a number of differentiation processes, including the lineage determination of mesenchymal stem cells. These are multipotent progenitor cells with self-renewal capacities that can give rise to a subset of tissues and thus hold a consistent potential in regenerative medicine. Here, we review the current literature on the complex liaison between autophagy induced by various extra- or intracellular stimuli and the molecular targets that affect mesenchymal stem cells proliferation and differentiation
APOE ε2 and ε4 influence the susceptibility for Alzheimer's disease but not other dementias
No full textApolipoprotein E (APOE) genotype was determined in a population of patients with dementia, including 735
patients with Alzheimer’s disease (AD), 75 with Frontotemporal Lobar Degeneration (FTLD), 97 with Vascular Dementia
(VaD) and 40 with Lewy Body Dementia (LBD), as well as in 506 age- and gender-matched controls (CON). APOE
ε2 allele frequency was lower in patients with AD (2.8%) than in CON (6.4%, P≤0.001, OR: 0.41). Similar results were
obtained comparing AD with FTLD (6.7%, P≤0.01, OR: 0.37), at difference from VaD (5.6%, P>0.05) or LBD (5.0%,
P>0.05). The frequency of the APOE ε4 allele was increased in patients with AD (25.1%) as compared with CON
(8.2%, P≤0.001, OR: 4.24), FTLD (11.3%, P≤0.001, OR: 2.67), VaD (11.8%, P≤0.001, OR: 3.02), or LBD (13.8%,
P=0.048, OR: 2.07). The frequency of the ε4/ε4 genotype was increased in AD patients compared with controls (6.3
versus 0.8%, P≤0.001, OR: 8.38). The presence of the ε2 allele is a protective factor for AD, whereas the ε4 allele
acts as a risk factor for the disease. Both alleles do not influence the susceptibility to FTLD, LBD and VaD
A Rare Cause of Juvenile Stroke: Extracranial Carotid Artery Aneurysm with Venous Complete Reconstruction of the Carotid Bifurcation
No full textExtracranial carotid artery aneurysms (ECAA) are a rare cause of embolic stroke. The underlying etiology is variable, with atherosclerosis being the most common entity in older subjects. Several treatments have been developed over the last 20 years, but the preferred method remains unknown. Notwithstanding the widespread use of endovascular techniques, surgical reconstruction by means of a bifurcated venous bypass graft should be applied in younger patients. In this way, it is possible to avoid major concerns about the development of long-term intrastent restenosis, and also to spare the external carotid artery which represents the main branch for the ipsilateral cerebral and facial perfusion. We propose ECAA resection and interposition of the inverted great saphenous vein to both the internal and external carotid artery by means the use of a tributary, i.e., the Giacomini vein
Ehlers-Danlos Syndrome classical type: A novel COL5A2 missense mutation with possible additive effect of a COL5A1 stop-gain mutation in a strongly correlated phenotype
No full textClassical Ehlers-Danlos syndrome (cEDS) is a heritable connective tissue disorder (HCTD) characterized by skin hyperelasticity, joint hypermobility and general tissue fragility. Mutations in COL5A1 and COL5A2 genes, encoding the type V collagen proalpha-1 (pro-α1) and proalpha-2 (pro-α2) chains respectively, are responsible of approximately 90% cEDS patients. The molecular basis of cEDS was investigated in a 43-years-old Italian woman by Target Enrichment Approach and variants were confirmed with different method as Sanger Sequencing. The analysis revealed an already described stop-gain mutation c.3769C>T, p. (Arg1257*) (rs748870349) in exon 48 of COL5A1 gene and two additional variants located in exon 48 of COL5A2 gene, that are a novel missense mutation c.3466C>G, p. (Pro1156Ala) and a known variant c.3379C>T, p. (Arg1127Cys) (rs886055354). All mutations were in heterozygous state and located in the triple-helix domain of collagen type V. The combination/co-presence of these three different collagen mutations confirmed the phenotype of EDS patients
Investigation on DNA methylation status of opioid peptides promoters in PBMCs of subjects with bipolar disorder
No full textA New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type with Different Phenotypes in the Same Family
No full textVascular Ehlers-Danlos syndrome (vEDS) is a rare and severe connective tissue disorder caused by mutations in the collagen type III alpha I chain (COL3A1) gene. We describe a pathogenetic heterozygous COL3A1 mutation c.3140 G>A, p. Gly1047Asp, identified using next-generation sequencing, in a 40-year-old Italian female. The genetic test performed on her relatives, which present different clinical phenotypes, confirmed that they carry the same mutation in heterozygous state. This finding confirms that mutations causing vEDS have an incomplete penetrance
Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers–Danlos syndrome with severe intestinal involvement: a case report
No full textThe vascular type of Ehlers-Danlos syndrome is an autosomal dominant connective tissue disorder caused by a mutation in the COL3A1 gene encoding pro-alpha1 chain of type III collagen. The vascular type of Ehlers-Danlos syndrome causes severe fragility of connective tissues with arterial and intestinal ruptures and complications in surgical and radiological treatments
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RETRACTED: Ehlers-Danlos syndrome caused by the c.934C>T, p. Arg312Cys mutation in COL1A1 gene: an Italian family without cardiovascular events
No full textThe article entitled “Ehlers-Danlos syndrome caused by the c.934C>T, p. Arg312Cys mutation in COL1A1 gene: an Italian family without cardiovascular events” has been retracted because the description and characterization of the disease in a family may have been previously published. Upon publication of this article we were notified by an author of a study appearing in 2016 in another journal claiming that characteristics and symptoms of the family described closely matched their study, and that the two studies describe the same family. Whereas constituent family members appearing in both articles were not identical (differing by one member), symptoms and diagnoses of each family proband appeared to be consistent in both studies, leading to the editors’ conclusion that it is likely that the same family was being described in two separate articles.The corresponding author of the article in Dermatology Online Journal was informed of this incident, and responded with the assertion that they were unaware of the study published in 2016, and provided no additional information. They further requested that their article be retracted. In light of the available information and author’s request, the editors of Dermatology Online Journal have retracted this article.The original article was published on July15, 2018 and corrected on September 15, 2018.The original article was published on July15, 2018 and corrected on September 15, 2018
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