Le premier rayonnement en France des idées d'Auguste Comte (1824-1848) : les milieux, les institutions, les hommes

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Case report: a typical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum

The amount of Insulin Growth Factor 2 (IGF2) controls the rate of embryonal and postnatal growth. The IGF2 and adjacent H19 are the imprinted genes of the telomeric cluster in the 11p15 chromosomal region regulated by differentially methylated regions (DMRs) or imprinting centers (ICs): H19/IGF2:IG-DMR (IC1). Dysregulation due to IC1 Loss-of-Methylation (LoM) or Gain-of-Methyaltion (GoM) causes Silver–Russell syndrome (SRS) or Beckwith–Wiedemann syndrome (BWS) disorders associated with growth retardation or overgrowth, respectively. Specific features define each of the two syndromes, but isolated asymmetry is a common cardinal feature, which is considered sufficient for a diagnosis in the BWS spectrum. Here, we report the case of a girl with right body asymmetry, which suggested BWS spectrum. Later, BWS/SRS molecular analysis identified IC1_LoM revealing the discrepant diagnosis of SRS. A clinical re-evaluation identified a relative macrocephaly and previously unidentified growth rate at lower limits of normal at birth, feeding difficulties, and asymmetry. Interestingly, and never previously described in IC1_LoM SRS patients, since the age of 16, she has developed hand-writer’s cramps, depression, and bipolar disorder. Trio-WES identified a VPS16 heterozygous variant [NM_022575.4:c.2185C>G:p.Leu729Val] inherited from her healthy mother. VPS16 is involved in the endolysosomal system, and its dysregulation is linked to autosomal dominant dystonia with incomplete penetrance and variable expressivity. IGF2 involvement in the lysosomal pathway led us to speculate that the neurological phenotype of the proband might be triggered by the concurrent IGF2 deficit and VPS16 alteration

Libertà politica e virtù civile. Significati e percorsi del repubblicanesimo classico

Tra storia e filosofia della politica, il volume analizza il ruolo delle idee politiche repubblicane nella formazione delle repubbliche moderne e propone spunti di riflessione sul significato del repubblicanesimo per il futuro delle democrazie.- Indice #5- Introduzione, Maurizio Viroli #9- Il repubblicanesimo di Machiavelli, Maurizio Viroli #19- Declino e durata delle repubbliche e delle idee repubblicane nell’Italia del Cinquecento, Elena Fasano Guarini #49- Patriottismo e riforma politica, Rosario Villari #113- Le idee repubblicane e la Rivoluzione inglese, Blair Worden #127- Cittadini, clienti e creditori: la repubblica come critica del mutamento storico, John G. A. Pocock #151- Le trasformazioni del repubblicanesimo classico nella Francia del Settecento, Keith Michael Baker #167- Virtù e Vittorianesimo. I valori repubblicani del liberalismo inglese, 1860/1890, Eugenio F. Biagini #195- Tra virtù e libertà: percorsi dell’idea repubblicana nella Francia ottocentesca (1830/1875), Mirella Larizza #217- La tradizione repubblicana nell’Italia dell’Ottocento e del Novecento, Massimo L. Salvadori #245- Considerazioni sulla libertà repubblicana, Quentin Skinner #267- “Moderno repubblicanesimo”? La promessa della società civile, Benjamin R. Barber #279- La moderna repubblica: mito o realtà?, Jean Fabien Spitz #30

Italie

Larizza Lolli Mirella. Italie. In: 1848. Révolutions et mutations au XIXe siècle, Numéro 9, 1993. Utopies au XIXe siècle. pp. 183-185

Repères pour une année d'activités historiques en Italie

Larizza Lolli Mirella. Repères pour une année d'activités historiques en Italie . In: Revue d'histoire du XIXe siècle, Tome 11, 1995/1. L'exil. pp. 178-180

Italie

Larizza Lolli Mirella. Italie. In: Revue d'histoire du XIXe siècle, Tome 15, 1997/2. 1848. Nouveaux regards. pp. 150-152

Repères pour une année d'activités historiques en Italie

Larizza Lolli Mirella. Repères pour une année d'activités historiques en Italie . In: 1848. Révolutions et mutations au XIXe siècle, Numéro 5, 1989. Histoires de centenaires ou le devenir des révolutions. pp. 136-138

Italie

Larizza Lolli Mirella. Italie. In: 1848. Révolutions et mutations au XIXe siècle, Numéro 10, 1994. Le silence au XIXe siècle. pp. 187-189

Italie

Larizza Lolli Mirella. Italie. In: 1848. Révolutions et mutations au XIXe siècle, Numéro 10, 1994. Le silence au XIXe siècle. pp. 187-189

Repères pour une année d'activités historiques en Italie

Larizza Lolli Mirella. Repères pour une année d'activités historiques en Italie. In: Revue d'histoire du XIXe siècle, Tome 12, 1996/1. L'incendie. pp. 134-135