24 research outputs found
A novel in-frame deletion in MYOT causes an early adult onset distal myopathy
Missense mutations in MYOT encoding the sarcomeric Z-disk protein myotilin cause three main myopathic phenotypes including proximal limb-girdle muscular dystrophy, spheroid body myopathy, and late-onset distal myopathy. We describe a family carrying a heterozygous MYOT deletion (Tyr4_His9del) that clinically was characterized by an early-adult onset distal muscle weakness and pathologically by a myofibrillar myopathy (MFM). Molecular modeling of the full-length myotilin protein revealed that the 4-YERPKH-9 amino acids are involved in local interactions within the N-terminal portion of myotilin. Injection of in vitro synthetized mutated human MYOT RNA or of plasmid carrying its cDNA sequence in zebrafish embryos led to muscle defects characterized by sarcomeric disorganization of muscle fibers and widening of the I-band, and severe motor impairments. We identify MYOT novel Tyr4_His9 deletion as the cause of an early-onset MFM with a distal myopathy phenotype and provide data supporting the importance of the amino acid sequence for the structural role of myotilin in the sarcomeric organization of myofibers
A longitudinal study on BIO14.6 hamsters with dilated cardiomyopathy: micro-echocardiographic evaluation
<p>Abstract</p> <p>Background</p> <p>In recent years, several new technologies for small-animal imaging have been developed. In particular, the use of ultrasound in animal imaging has focused on the investigation of accessible biological structures such as the heart, of which it provides a morphological and functional assessment. The purpose of this study was to investigate the role of micro-ultrasonography (μ-US) in a longitudinal study on BIO14.6 cardiomyopathic hamsters treated with gene therapy.</p> <p>Methods</p> <p>Thirty hamsters were divided into three groups (n = 10): Group I, untreated BIO 14.6 hamsters; Group II, BIO 14.6 hamsters treated with gene therapy; Group III, untreated wild type (WT) hamsters. All hamsters underwent serial μ-US sessions and were sacrificed at predetermined time points.</p> <p>Results</p> <p>μ-US revealed: in Group I, progressive dilation of the left ventricle with a change in heart morphology from an elliptical to a more spherical shape, altered configuration of the mitral valve and subvalvular apparatus, and severe reduction in ejection fraction; in Group II, mild decrease in contractile function and ejection fraction; in Group III, normal cardiac chamber morphology and function. There was a negative correlation between the percentage of fibrosis observed at histology and the ejection fraction obtained on μ-echocardiography (Spearman r: -0.839; p < 0.001).</p> <p>Conclusions</p> <p>Although histological examination remains indispensable for a conclusive diagnosis, high-frequency μ-echocardiography, thanks to the high spatial and contrast resolution, can be considered sufficient for monitoring therapeutic efficacy and/or the progression of dilated cardiomyopathy, providing an alternative tool for repeatable and noninvasive evaluation.</p
Cambiamenti ambientali indotti dalle variazioni climatiche oloceniche e dall’uomo nell’area dell’abitato antico di Pontecagnano
L’abitato antico di Pontecagnano (vii-iii a.C.), sorge su un alto morfologico di natura travertinosa, che in antico emergeva di pochi metri dal settore NO della pianura alluvionale costiera del Fiume Sele. I lavori per l’ampliamento dell’autostrada A3 SA-RC hanno intercettato livelli archeologici rappresentativi di ampie porzioni del territorio urbano e periurbano dell’abitato antico e messo in evidenza un record archeostratigrafico che va dal Pleistocene Superiore ad oggi. Lo studio geomorfologico ed archeo-tephro-stratigrafico di dettaglio, corredato da analisi paleoambientali, ha consentito di delineare gli aspetti salienti dell’evoluzione del paesaggio e degli ambienti nel corso dell’Olocene. Le modifiche dell’ambiente e del paesaggio sono state prevalentemente indotte da condizionamenti antropici sul sistema idraulico e forestale e sull’organizzazione del territorio soprattutto per il periodo di vita dell’abitato, dove si coglie un importante bonifica. Nei periodi precedenti e successivi alla vita dell’abitato i cambiamenti ambientali sono stati indotti da variazioni climatiche e dai prodotti delle eruzioni dei vulcani napoletani.The ancient settlement of Pontecagnano (7th-3rd centuries B.C.) was built up on the travertine plateau overlooking the Sele river on the NW sector
of the alluvial-coastal plain. Motorway construction works brought to light archaeological remains of an ancient urban and suburban settlement.
Archaeostratigraphical records dated between the late Pleistocene and today have been elucidated. The geomorphological and archaeo-tephro-stratigraphical study, coupled with palaeoenvironmental analysis, allowed us to outline the evolution of the environment during the Holocene. The environmental changes have been mainly induced by human activities, during the 7th -3rd centuries B.C., by land reclamation. During other periods of the Holocene the environmental changes can be attributed to climatic variations and, secondly, to the impact of the distal products of Neapolitan volcanic eruptions on geomorphic systems
Valore d’uso e valore d’ornamento: L’ostentazione dello status attraverso l’uso delle asce pendenti nell’Italia neolitica ed eneolitica
International audienc
Orizzonti culturali e dinamiche di occupazione nelle grotte della Campania tra Neolitico ed età del Bronzo
Human communities living in the central campania plain during eruptions of vesuvius and campi flegrei
Archaeological and volcanological studies have revealed that eruptions of Neapolitan volcanoes have conditioned human settlement patterns since prehistoric times. The occurrence of high intensity explosive eruptions, interspersed with long periods of quiescence, has characterized the last 10 ka of activity of these volcanoes. Geoarchaeological studies, carried out in advance of investigations for the construction of the Rome-Naples and the new Naples-Bari railway lines, have made possible a detailed reconstruction of human presence in the central part of the Campania Plain up to the coastal strip, between the late Neolithic and the late Bronze Age. The examined chronological interval includes sequences of pyroclastic deposits erupted by both Campi Flegrei and Somma-Vesuvius, and paleosols with evidence of anthropic frequentation. Altogether, the geoarchaeological data have provided a detailed picture of human settlement and activities through time with a particular focus on a long period of quiescence of the two volcanoes and also during their intense activity