Search results for "Hereditary disease"
showing 7 items of 7 documents
Losing DNA methylation at repetitive elements and breaking bad
2021
Abstract Background DNA methylation is an epigenetic chromatin mark that allows heterochromatin formation and gene silencing. It has a fundamental role in preserving genome stability (including chromosome stability) by controlling both gene expression and chromatin structure. Therefore, the onset of an incorrect pattern of DNA methylation is potentially dangerous for the cells. This is particularly important with respect to repetitive elements, which constitute the third of the human genome. Main body Repetitive sequences are involved in several cell processes, however, due to their intrinsic nature, they can be a source of genome instability. Thus, most repetitive elements are usually meth…
From Myth to Science. A Short Survey on Heredity and Its Causes in Ancient Greece
2017
In this contribution, I deal with the notion of “cause” concerning hereditary diseases in ancient Greece. A notion of hereditary disease is already foreshadowed in myths, where guilt is often depicted as a pathologic contamination (miasma) affecting both the individual and his offspring (ghenos). The notion of miasma especially concerns diseases whose signs are not visible: in such cases, either gods or maleficent daemons were believed to harass human beings and inflict them punishments that took the shape of diseases. Contamination mainly spreads itself by means of blood-shedding: the slaughter of kinsmen (especially the murder of one’s parents) was widely considered as a main cause of man…
Two novel mutations at exon 8 of the Sequestosome 1 (SQSTM1) gene in an Italian series of patients affected by Paget's disease of bone (PDB).
2003
PDB is genetically heterogeneous. Mutations of the sequestosome1 gene have been reported in sporadic and familial forms of Paget's in patients of French Canadian and British descent. Mutational analyses in different ethnic groups are needed to accurately investigate hereditary diseases. We describe two novel mutations of sequestosome1 in 62 Italian sporadic patients, confirming the role of the encoded protein in this disorder. Introduction: Paget's disease of bone (PDB) is a relatively common disease of bone metabolism reported to affect up to 3% of whites over 55 years of age. The disorder is genetically heterogeneous, and at present, there is scientific evidence that at least eight differ…
Introduzione
2019
Il volume indaga le radici storiche delle malattie che oggi definiamo genetiche e/o ereditarie, ponendo le premesse terminologiche e scientifiche che stanno a fondamento della riflessione moderna e contemporanea sulla malattia genetica, qui animata dal filo della continuità e della pur forte discontinuità con il pensiero antico. In tal senso, si presenta una retrospettiva storico-critica che, affondando le proprie radici nell’indagine lessicografica dei termini fondanti il pensiero embriogenetico moderno, interroga la validità storica ed epistemica di alcuni concetti e parole-chiave dell’era post-genomica, tra cui quello di causalità, o il rapporto tra natura e cultura, per toccare il nucle…
IC3D Classification of Corneal Dystrophies—Edition 2
2015
To update the 2008 International Classification of Corneal Dystrophies (IC3D) incorporating new clinical, histopathologic, and genetic information.The IC3D reviewed worldwide peer-reviewed articles for new information on corneal dystrophies published between 2008 and 2014. Using this information, corneal dystrophy templates and anatomic classification were updated. New clinical, histopathologic, and confocal photographs were added.On the basis of revisiting the cellular origin of corneal dystrophy, a modified anatomic classification is proposed consisting of (1) epithelial and subepithelial dystrophies, (2) epithelial-stromal TGFBI dystrophies, (3) stromal dystrophies, and (4) endothelial d…
I nomi del male e i segni dell'eredità. Pensare, nominare e curare la malattia "genetica" dai Greci a noi
2019
Il volume indaga le radici storiche delle malattie che oggi definiamo genetiche e/o ereditarie, ponendo le premesse terminologiche e scientifiche che stanno a fondamento della riflessione moderna e contemporanea sulla malattia genetica, qui animata dal filo della continuità e della pur forte discontinuità con il pensiero antico. In tal senso, si presenta una retrospettiva storico-critica che, affondando le proprie radici nell’indagine lessicografica dei termini fondanti il pensiero embriogenetico moderno, interroga la validità storica ed epistemica di alcuni concetti e parole-chiave dell’era post-genomica, tra cui quello di causalità, o il rapporto tra natura e cultura, per toccare il nucle…
"MEG 2015".
2017
Papers presented at the International Conference of the FIRB Project 2010 "Medical Terminology and Epistemology for a Lexikon of Genetics and its Degenerations from Hippocrates to ICD-10" (Palermo, 4-6 May 2015), Special Issue of the Journal Medicina nei Secoli (Voll. 28/3-29/1).