[Angiomatous meningioma and epilepsy in a 2.6-years-old girl].

A case of meningo-angiomatosis (MA), in a 2.6 -years-old girl with refractory focal and secondary generalized seizures, starting at the age of 2 years, is presented. MRI evaluation revealed a lesion located at the left temporal lobe; the patient underwent surgical intervention. Histology revealed the lesion to have the features of MA

[Angiomatous meningioma and epilepsy in a 2.6-years-old girl].

A case of meningo-angiomatosis (MA), in a 2.6 -years-old girl with refractory focal and secondary generalized seizures, starting at the age of 2 years, is presented. MRI evaluation revealed a lesion located at the left temporal lobe; the patient underwent surgical intervention. Histology revealed the lesion to have the features of MA

Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature.

Interstitial triplications of 15q11-q13, leading to tetrasomy of the involved region, are very rare, with only 11 cases reported to date. Their pathogenicity is independent of the parental origin of the rearranged chromosome. The associated phenotype resembles, but is less severe, than that of patients bearing inv dup(15) marker chromosomes. Here, we describe a boy of 3 years and 9 months of age who exhibited very mild craniofacial dysmorphism (arched eyebrows, hypertelorism, and a wide mouth), developmental delay, generalized hypotonia, ataxic gait, severe intellectual disability, and autism. Array comparative genomic hybridization (CGH) analysis identified a heterozygous duplication of 1.1\u2009Mb at 15q11.2 (between low-copy repeats BP1 and BP2), and a heterozygous triplication of 6.8\u2009Mb at 15q11.2-q13.1 (BP2-BP4). Both acquisitions were de novo and contiguous. Microsatellite polymorphism analysis revealed the maternal origin of the triplication and the involvement of both maternal chromosomes 15. Furthermore, fluorescence in situ hybridization (FISH) analysis using BAC clones revealed that the rearrangement was complex, containing three differently sized tandem repeats of which the middle one was inverted. Our study confirms and extends the model proposed to explain the formation of intrachromosomal triplications through recombination events between non-allelic duplicons. The comparison of the proband's clinical presentation with those of previously described cases attests the existence of endophenotypes due to the parental origin of the 15q11-q13 triplicated segment and suggests a timetable for achievement of developmental milestones, thereby contributing to improved genotype-phenotype correlations

A Surface-Induced Asymmetric Program Promotes Tissue Colonization by Pseudomonas aeruginosa.

The opportunistic human pathogen Pseudomonas aeruginosa effectively colonizes host epithelia using pili as primary adhesins. Here we uncover a surface-specific asymmetric virulence program that enhances P. aeruginosa host colonization. We show that when P. aeruginosa encounters surfaces, the concentration of the second messenger c-di-GMP increases within a few seconds. This leads to surface adherence and virulence induction by stimulating pili assembly through activation of the c-di-GMP receptor FimW. Surface-attached bacteria divide asymmetrically to generate a piliated, surface-committed progeny (striker) and a flagellated, motile offspring that leaves the surface to colonize distant sites (spreader). Cell differentiation is driven by a phosphodiesterase that asymmetrically positions to the flagellated pole, thereby maintaining c-di-GMP levels low in the motile offspring. Infection experiments demonstrate that cellular asymmetry strongly boosts infection spread and tissue damage. Thus, P. aeruginosa promotes surface colonization and infection transmission through a cooperative virulence program that we termed Touch-Seed-and-Go

Sindrome periodica ed emicrania: uno studio multicentrico italiano

16noneDe Carlo D; Dal Zotto L; Peressinotto E; Zanchin G; Ballottin U; Mazzotta G; Moscato D; Raieli V; Rossi LN; Sangermani R; Soriani S; Termine C; Tozzi E; Vecchio A; Gattai M; Battistella PA.De Carlo, D; Dal Zotto, L; Peressinotto, E; Zanchin, G; Ballottin, U; Mazzotta, G; Moscato, D; Raieli, V; Rossi, Ln; Sangermani, R; Soriani, S; Termine, Cristiano; Tozzi, E; Vecchio, A; Gattai, M; Battistella, P. A