Functional and morphological cardiovascular alterations associated with neurofibromatosis 1.

Subjects with Neurofibromatosis 1 (NF1) develop vascular complications. The protein product of the gene affected in NF1, neurofibromin, physiologically modulates endothelial function and preserves vascular and myocardial structure. Our study aimed to verify whether subjects with NF1 have early, preclinical abnormalities of carotid artery structure, brachial artery function, and cardiac function.

Intracellular FMRpolyG-Hsp70 complex in fibroblast cells from a patient affected by fragile X tremor ataxia syndrome.

Background: Fragile X-associated tremor/ataxia syndrome is a late-onset neurodegenerative disorder that affects about 40% of carriers of CGG-repeat expansions in the premutation range within the fragile X gene (). Main clinical features include intention tremor, cerebellar ataxia, and parkinsonism. Recently, great emphasis on the deposition of soluble aggregates produced by a RAN translation process, as main pathogenic mechanism, has been given.

Hyaluronan fragments produced during tissue injury: A signal amplifying the inflammatory response.

Inflammation is a complex mechanism that plays a key role during diseases. Dynamic features of the extracellular matrix (ECM), in particular, during phases of tissue inflammation, have long been appreciated, and a great deal of several investigations has focused on the effects of ECM derivatives on cell function. It has been well defined that during inflammatory and tissue injury, ECM components were degraded.

Flash visual-evoked potentials and flash electroretinography in the preoperative visual prognosis of eyes with cataracts.

This study evaluated the reliability of flash visual-evoked potentials and flash electroretinography in the prognosis of postoperative visual acuity after cataract extraction. We tested 94 patients with cataract in whom the preoperative visual acuity ranged from light perception to 3/10. On the basis of the electrophysiologic tests, we formulated three types of preoperative visual prognosis: high, intermediate, and poor.