Search results for "Croce"
showing 10 items of 170 documents
Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical …
2014
Intellectual disability (ID), which affects around 2–3% of the general population, is classically divided into syndromic and nonsyndromic forms, with several modes of inheritance. Nonsyndromic autosomal recessive ID (NS-ARID) appears extremely heterogeneous with numerous genes identified to date, including inborn errors of metabolism. The TUSC3 gene encodes a subunit of the endoplasmic reticulum (ER)-bound oligosaccharyltransferase complex, which mediates a key step of N-glycosylation. To date, only five families with NS-ARID and TUSC3 mutations or rearrangements have been reported in the literature. All patients had speech delay, moderate-to-severe ID, and moderate facial dysmorphism. Micr…
La concordia discors tra Gentile e Croce
2016
Se scorriamo le pagine più significative della biografia di Giovanni Gentile, non si può trascurare l’arco di tempo nel corso del quale si avvia e si consolida l’amicizia con Benedetto Croce. A questo proposito occorre porre in rilievo i quattro anni trascorsi presso la Scuola Normale Superiore di Pisa, ove il giovane, diplomatosi presso il liceo classico Ximenes di Trapani, conseguì la laurea in filosofia con la tesi su Rosmini e Gioberti seguita da Donato Jaja. Perciò il 1897 può e deve essere considerato come punto di inizio di una lunga carriera di filosofo, che avrebbe attraversato varie fasi della storia della cultura italiana. A dire il vero, ancora nel 1896, il giovane proveniente d…
Breeding ecology and dispersal capability of wetland birds: a comparison between two Acrocephalus warblers with unsynchronized life histories
2016
El carricerín real Acrocephalus melanopogon y el carricero común Acrocephalus scirpaceus son paseriformes insectívoros típicos de carrizal. Estas especies son muy similares en tamaño, pero difieren en muchas características ecológicas y etológicas, como migración, fenología reproductiva y especialización de hábitat. En este estudio, hemos considerado sobre todo poblaciones españolas de las dos especies, y nuestros objetivos fueron por un lado investigar algunos aspectos de la ecología reproductiva, la estructura genética y la capacidad de dispersión de estas poblaciones, y por otro estudiar el solapamiento de nichos entre las dos especies en condiciones de simpatría. Nos interesaba especial…
Cohen syndrome is associated with major glycosylation defects
2014
International audience; Cohen syndrome (CS) is a rare autosomal recessive disorder with multisytemic clinical features due to mutations in the VPS13B gene, which has recently been described encoding a mandatory membrane protein involved in Golgi integrity. As the Golgi complex is the place where glycosylation of newly synthesized proteins occurs, we hypothesized that VPS13B deficiency, responsible of Golgi apparatus disturbance, could lead to glycosylation defects and/or mysfunction of this organelle, and thus be a cause of the main clinical manifestations of CS. The glycosylation status of CS serum proteins showed a very unusual pattern of glycosylation characterized by a significant accum…
MACROCEPHALY FROM A NORMAL VARIANT TO A THREATENING CONDITION. A SINGLE CENTER RETROSPECTIVE STUDY ON 189 SUBJECTS
2020
Introduction: Macrocephaly, defined as a head circumference more than two standard deviations from the normal distribution, is among the most frequently requested neuropediatric consultations. Materials: we conducted a retrospective study on 189 subjects with macrocephaly, from birth to 18 years old, enrolled from October 2001 to December 2019, for diagnostic definition and/or neurodevelopmental assessment. Brain sonography has been performed in all infants and CT or MR in selected patients. Results: macrocephaly was prevalent in males (62.4%), a head circumference >3SD (8.5%) has been associated with a neurodevelopmental impairment. A genetic and/or concomitant malformation were present…
Guy Debord, classicità, tempo e spazio
2020
After having defined what "classical" means (the recovery of one's own time from time), the essay explains why Debord's theory of historicity is to be considered "classical". This assertion is argued with reference to Hegel, Croce, Feuerbach.
Croce und die Aetas Kantiana. Anmerkungen zur historiographischen Konstruktion
2020
The essay investigates what theory of historical time can be found in Croce's philosophical historiography. His analysis of philosophical debate in Kant's epoch, especially in regard to W. v. Humboldt, Jacobi and Schleiermacher, serves as example of this theory.
Le "Grenzen" di Rickert e il concetto di categoria di Croce
2005
Confronto per differenza tra la logica formale del valore di Rickert e la logica del giudizio di Croce
Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration
2018
Mitochondrial Fission Factor (MFF) is part of a protein complex that promotes mitochondria and peroxisome fission. Hitherto, only 5 patients have been reported harboring mutations in MFF, all of them with the clinical features of a very early onset Leigh-like encephalopathy. We report on an 11-year-old boy with epileptic encephalopathy. He presented with neurological regression, epileptic myoclonic seizures, severe intellectual disability, microcephaly, tetraparesis, optic atrophy, and ophthalmoplegia. Brain MRI pattern was compatible with Leigh syndrome. NGS-based analysis of a gene panel for mitochondrial disorders revealed a homozygous c.892C>T (p. Arg298*) in the MFF gene. Fluorescen…
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly
2021
International audience; 13q12.3 microdeletion syndrome is a rare cause of syndromic intellectual disability. Identification and genetic characterization of patients with 13q12.3 microdeletion syndrome continues to expand the phenotypic spectrum associated with it. Previous studies identified four genes within the approximately 300 Kb minimal critical region including two candidate protein coding genes: KATNAL1 and HMGB1. To date, no patients carrying a sequence-level variant or a single gene deletion in HMGB1 or KATNAL1 have been described. Here we report six patients with loss-of-function variants involving HMGB1 and who had phenotypic features similar to the previously described 13q12.3 m…