Search results for "Croce"
showing 10 items of 170 documents
Microcephaly and macrocephaly. A study on anthropometric and clinical data from 308 subjects
2019
Head circumference is the auxological parameter that most correlates with developmental anomalies in childhood. Head circumference (HC) two standard deviations (SD) below or above the mean defines microcephaly and macrocephaly, respectively. The aim of this retrospective study was to explore anthropometric parameters and clinical characteristics among subjects with abnormalities in HC who had been referred for developmental assessment. One hundred and sixty four subjects with microcephaly and 144 subjects with macrocephaly were enrolled from birth to 18 months of age. Head circumference at birth and the association with variables related to maternal health status, gestational age, growth pa…
Dysmorphic face, precociously senile appearance, microcephaly, growth retardation and neuropsychomotor delay
2005
Cockayne's syndrome is a rare recessive autosomal disorder. Its frequency at birth is very low. In the classical form (type 1) the clinical appearance becomes evident by the second year of life. Itis characterized by severe growth delay, microcephaly, progressive loss of adipose tissue, senile appearance, dysmorphic facial features, ocular anomalies (retinal pigmentary degeneration, nistagmus, cataract, optic atrophy).
Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities
2014
Background: Anorectal malformations (ARM) have a prevalence of around 1 in 2500 live births. In around 50% of patients, the malformation is isolated, while in the remainder it arises within the context of complex genetic abnormalities or a defined genetic syndrome. Recent studies have implicated rare copy number variations (CNVs) in both isolated and nonisolated ARM, and identified plausible candidate genes. Methods: In the present study, array-based molecular karyotyping was performed to identify causative CNVs in 32 sporadic ARM patients with comorbid abnormalities of the central nervous system (CNS). This phenotype was selected to enrich for rare CNVs, since previous research has implica…
Dantisti, dantofili, dantologi, dantomani e dantofobi nel dibattito estetico (e politico) nell’Italia di primo Novecento
2019
« Dantofobi », « dantisti » et « dantomani » étaient au début du XXe siècle trois mots clés moins d’un discours sur la fortune ou réception de Dante que d’un débat esthétique décisif en Italie : celui qui avait lieu entre les adeptes de la méthode historique, l’avant-garde crocienne et le leader de la culture italienne, B. Croce. Dantomani et dantofobi, risquaient vraiment de troubler les eaux dantesques encore plus que ne l’avaient fait les dantisti. Encore une fois, dans l’histoire culturelle italienne.
Etude des effets cohérents dans la vapeur de rubidium atomique sous irradiation laser bi-chromatique
2013
The effect of electromagnetically induced transparency is observed, using nanocelland microcell. The EIT-resonance with good parameters (high contrast and small FWHM) is obtained in thick cells. The EIT-resonance splitting in magnetic field is observed for the cases of D1-line of 85Rb and 85Rb. The theoretical model, explaining the EIT-resonance components frequency shift dependence on magnetic field strength is presented. The theoretical and experimental results are compared and good agreement is shown. Also the EIT-resonance behavior in hyperfine Paschen-Back regime is presented and explained. For the first time the N-type resonance in microcell is observed. Good parameters of theN-type r…
Hybridization between mouse lemurs in an ecological transition zone in southern Madagascar
2009
Hybrid zones in ecotones can be useful model systems for the study of evolutionary processes that shape the distribution and discreteness of species. Such studies could be important for an improved understanding of the complex biogeography of Madagascar, which is renowned for its outstanding degree of small-scale endemism. Certain forest remnants in central Madagascar indicate that transitional corridors across the island could have connected microendemics in different forest types in the past. Evolutionary processes in such corridors are difficult to study because most of these corridors have disappeared due to deforestation in central Madagascar. We studied a hybrid zone in one of the few…
Range Shifts of Mouse Lemurs in South-Eastern Madagascar: Evidence from Mitochondrial Genetic Data
2012
The gray mouse lemur, Microcebus murinus, occurs mainly in dry forests in western Madagascar, but its distribution extends into humid littoral forests in the south-eastern Anosy Region. We sequenced the mitochondrial hypervariable region 1 for 282 M. murinus individuals from 13 south-eastern study sites. The spatial distribution of mitochondrial haplotypes and the varying genetic distances within two haplotype clades indicated a trend of decreasing genetic diversity towards the south-eastern margin of the range. Rufous mouse lemurs, Microcebus cf. rufus, have a complementary distribution in south-eastern Madagascar which does not overlap with that of M. murinus. Taken together, the spatial …
Population Genetics, Parasitism, and Long-Term Population Dynamics of Microcebus murinus in Littoral Forest Fragments of South-Eastern Madagascar
2012
Habitat fragmentation is a major threat for lemur conservation, as it reduces population sizes to levels that are nonviable in the long term. Alternatively, isolated populations may have great importance for conservation, as some are well protected and some lemurs do well even in small areas. Hence, knowing which characteristics indicate a population under threat is of paramount importance for conservation action. We studied Microcebus murinus populations confined to forest fragments of different sizes and states of degradation in south-eastern Madagascar to investigate relationships between population size, population dynamics, genetic diversity of coding and noncoding DNA, and infection r…
Galloway-Mowat syndrome: New insights from bioinformatics and expression during Xenopus embryogenesis.
2021
Abstract Galloway-Mowat syndrome (GAMOS) is a rare developmental disease. Patients suffer from congenital brain anomalies combined with renal abnormalities often resulting in an early-onset steroid-resistant nephrotic syndrome. The etiology of GAMOS has a heterogeneous genetic contribution. Mutations in more than 10 different genes have been reported in GAMOS patients. Among these are mutations in four genes encoding members of the human KEOPS ( k inase, e ndopeptidase and o ther p roteins of small s ize) complex, including OSGEP, TP53RK, TPRKB and LAGE3. Until now, these components have been functionally mainly investigated in bacteria, eukarya and archaea and in humans in the context of t…
Microsatellite markers for paternity testing in fork-marked lemurs (Phaner furcifer)
2003
We report the development of three new microsatellites and four transferred across-species for fork-marked lemurs ( Phaner furcifer ). Two markers were isolated from Cheirogaleus medius and one from Microcebus murinus . The transferred markers also originate from Cheirogaleus medius and Microcebus murinus . The seven markers were tested on 30 individuals of Phaner furcifer and have proven to be useful for inclusion and exclusion of potential parents. The markers presented here are the first published for application on Phaner furcifer .