Search results for "Marie"

Dal FIRB al Marie Curie: proposte di Progetti interdisciplinari per il futuro delle Scienze Umane

2016

From the FIRB to the Marie Curie Project: this report presents the inter- and multidisciplinary approach as well the latest scientific results of a Researcher in Greek Language and Literature as Principal Investigator and Proponent of Research Projects at national and european level, in order to seek funding for the survival of the human studies.

Calibrated international standards including ATHO-G, T1-G, and VG-568 (USNM 72854)

2021

Charcot-Marie-Tooth disease: Genetic and clinical spectrum in a Spanish clinical series

2013

Objectives: To determine the genetic distribution and the phenotypic correlation of an extensive series of patients with Charcot-Marie-Tooth disease in a geographically well-defined Mediterranean area. Methods: A thorough genetic screening, including most of the known genes involved in this disease, was performed and analyzed in this longitudinal descriptive study. Clinical data were analyzed and compared among the genetic subgroups. Results: Molecular diagnosis was accomplished in 365 of 438 patients (83.3%), with a higher success rate in demyelinating forms of the disease. The CMT1A duplication (PMP22 gene) was the most frequent genetic diagnosis (50.4%), followed by mutations in the GJB1…

Un viaje de ida y vuelta al otro mundo. El Cabaret del Diavolo de Gino Gori y Fortunato Depero en Roma (1922-1925)

2023

The Roman cabarets linked to Futurism were meeting places where the programme of the manifesto Ricostruzione futurista dell’universo was applied. Following the experiences of Bragaglia and Marchi at the Circolo delle Cronache d’Attualità and the setting by Giacomo Balla at the Bal Tic Tac, the entrepreneur and poet Gino Gori commissioned Fortunato Depero to decorate the Cabaret del Diavolo. Based on Dante’s Commedia, Depero would create an integral design of three spaces that configured an allegorical inverted reading of the Florentine poet’s journey to the afterworld. Its originality and careful advertising made the cabaret one of the representative spaces of the Roman nightlife which, des…

Ricerca di mutazioni primarie agli inibitori della fusione in soggetti con infezione da virus dell’immunodeficienza umana (HIV-1)

2008

Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease

2016

Charcot-Marie-Tooth disease (CMT) is a complex disorder with wide genetic heterogeneity. Here we present a new axonal Charcot-Marie-Tooth disease form, associated with the gene microrchidia family CW-type zinc finger 2 (MORC2). Whole-exome sequencing in a family with autosomal dominant segregation identified the novel MORC2 p. R190W change in four patients. Further mutational screening in our axonal Charcot-Marie-Tooth disease clinical series detected two additional sporadic cases, one patient who also carried the same MORC2 p. R190W mutation and another patient that harboured a MORC2 p. S25L mutation. Genetic and in silico studies strongly supported the pathogenicity of these sequence vari…

A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4

2019

Abstract Background Mutations in the FGD4 gene cause an autosomal recessive demyelinating peripheral neuropathy referred to as CMT4H, characterized by its onset in infancy or early-childhood and its slow progression. Methods The clinical and genetic status of two patients with CMT4H was studied, performing genetic testing with a panel of genes and analysing FGD4 mRNA expression by quantitative PCR. Results Two novel FGD4 variants (c.514delG and c.2211dupA) were identified in two mildly affected Spanish siblings with CMT4H, and with disease onset in late adolescence/adulthood (one of them remaining asymptomatic at 20). On examination, foot deformity was observed without weakness or sensory i…

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

2001

We identified three distinct mutations and six mutant alleles in GDAP1 in three families with axonal Charcot-Marie-Tooth (CMT) neuropathy and vocal cord paresis, which were previously linked to the CMT4A locus on chromosome 8q21.1. These results establish the molecular etiology of CMT4A (MIM 214400) and suggest that it may be associated with both axonal and demyelinating phenotypes.

Patient-reported impact of Charcot-Marie-Tooth disease: protocol for a real-world digital lifestyle study

2021

Abstract Background Charcot-Marie-Tooth disease (CMT) is a rare, chronic, progressive motor and sensory neuropathy that affects the peripheral nervous system, leading to progressive, predominantly distal muscle weakness, atrophy, sensory loss and progressive limb dysfunction. As with many rare diseases, there is a lack of patient-reported data with which to understand and address patient needs. This study aims to explore the real-world impact of CMT from the patient perspective. Methods This is a prospective, digital lifestyle study of at least 2,000 people with CMT, >18 years, resident in the following countries: France, Germany, Italy, Spain, the UK and the USA. Participants will be re…

Prevalence of potentially inappropriate medications and risk of adverse clinical outcome in a cohort of hospitalized elderly patients: results from t…

2014

SummaryWhat is known and objective Inappropriate prescribing is highly prevalent for older people and has become a global healthcare concern because of its association with negative health outcomes including ADEs, hospitalization and resource utilization. Beers' criteria are widely utilized for evaluating the appropriateness of medications, and an up-to-date version has recently been published. To assess the prevalence of patients exposed to PIMs at hospital discharge according to the 2003 and 2012 versions of Beers' criteria and to evaluate the risk of adverse clinical events, re-hospitalization and all-cause mortality at 3-month follow-up. Methods This cross-sectional study was held in 66…