Search results for "Croce"
showing 10 items of 170 documents
Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary toVPS13Bmutations
2013
Over one hundred VPS13B mutations are reported in Cohen syndrome (CS). Most cases exhibit a homogeneous phenotype that includes intellectual deficiency (ID), microcephaly, facial dysmorphism, slender extremities, truncal obesity, progressive chorioretinal dystrophy, and neutropenia. We report on a patient carrying two VPS13B splicing mutations with an atypical phenotype that included microcephaly, retinopathy, and congenital neutropenia, but neither obesity nor ID. RNA analysis of the IVS34+2T_+3AinsT mutation did not reveal any abnormal splice fragments but mRNA quantification showed a significant decrease in VPS13B expression. RNA sequencing analysis up- and downstream from the IVS57+2T>C…
Congenital hypertrophy of the retinal pigment epithelium and familial polyposis of the colon.
1987
Inquiries to Manuel Diaz Llopis, M.D., Cl Cirilo Amoros No. 1 PTA 2, Valencia 46004, Spain. Familial polyposis of the colon is a dominant autosomal disorder that is characterized by hundreds and sometimes thousands of adenomatous polyps throughout the entire colon, which begin in adolescence. Virtually all pa tients with familial polyposis develop carcino ma of the colon by age 50 years. A total colectomy should be carried out early in adult life in affected persons. Because of the autosomal dominant inheritance pattern, an intensive sur vey of family members must be conducted. There is no phenotype biochemical abnormality or serologic marker that indicates whether a familial member will…
Deteriorating Weather Conditions Predict the use of Suboptimal Stopover Sites by Aquatic WarblersAcrocephalus paludicola
2011
Abstract. The Aquatic Warbler Acrocephalus paludicola is a globally threatened songbird and its decline is related to habitat loss. Accordingly, most studies dealing with the stopover ecology of this species have been chiefly focused on the habitat use and the availability of suitable habitats along its route of migration. In contrast, much less attention has been paid to other environmental causes potentially explaining the use of stopover sites. Our aim here was to investigate whether the Aquatic Warbler at an apparently suboptimal stopover site with small area of suitable habitats stops over only during adverse weather conditions. We used data obtained at a suboptimal (Jaizubia marshland…
Croce e Fidler. Le due interpretazioni
2016
Il saggio ricostruisce la storia dell'interesse di Croce per la filosofia dell'arte di Fidler, motivandone le variazioni. This essay deals with Croce's interest for the Fiedlerian Philosophy of Art. It sheds some light on the shifts in his appraisal of Fiedler's achievements.
The neuroprotective potential of carotenoids in vitro and in vivo.
2021
Abstract Background Despite advances in research on neurodegenerative diseases, the pathogenesis and treatment response of neurodegenerative diseases remain unclear. Recent studies revealed a significant role of carotenoids to treat neurodegenerative diseases. The aim of this study was to systematically review the neuroprotective potential of carotenoids in vivo and in vitro and the molecular mechanisms and pathological factors contributing to major neurodegenerative diseases (Alzheimer's disease, Huntington's disease, Parkinson's disease, amyotrophic lateral sclerosis, and stroke). Hypothesis Carotenoids as therapeutic molecules to target neurodegenerative diseases. Results Aggregation of …
Approssimazioni alla “leggenda del legno della Croce” nell'Occitania medievale
2019
La leggenda del legno della croce è una delle storie apocrife più significative del medioevo religioso. Essa è il risultato di un lungo processo di stratificazione di racconti e motivi leggendari, e risulta declinata in versioni plurime, più o meno scorciate e interpolate. Il presente contributo indaga la diffusione della storia del lignum crucis nel contesto occitano. La scelta non è casuale; appare, anzi, necessaria. In effetti, come spesso è avvenuto per quella che può essere considerata un’appendice alla cosiddetta «eccezione narrativa» occitana, lo studio della letteratura religiosa del Midi necessita ancora di nuovi spunti d’indagine, trasversali e comparativi. Di questo soffrono anch…
Croce e la modernità tedesca
2017
The book collects the proceedings of the international symposium held with the support of the DFG in 2016 at Villa Vigoni about the relationship between Benedetto Croce and German culture. In particular, the essays deal with the question of the crisis of modernity in German culture through a spectrum of inquiries ranging from Kant to Th. Mann. Il volume costituisce l'edizione italiana dei materiali del seminario internazionale svoltosi con il sostegno della DFG nel 2016 presso Villa Vigoni, avente per argomento il ruolo di Croce in Germania e della cultura tedesca per Croce. In particolare, i singoli contributi affrontano la questione della crisi della modernità nella cultura tedesca in uno…
Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome.
2022
Funder: Università degli Studi di Catania