Margherita Stefania Rodolico

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Fabry disease is a metabolic and lysosomal storage disorder caused by the functional defect of the α-galactosidase A enzyme; this defect is due to mutations in the GLA gene, that is composed of seven exons and is located on the long arm of the X-chromosome (Xq21-22). The enzymatic deficit is responsible for the accumulation of glycosphingolipids in(More)
Experimental research faces two great problems: the significant reduction of public funding and the firm opposition of the public opinion. The law forbids the use of large animals, so that it is possible to use small animals only, which require microsurgical techniques. However, even a skillful surgeon does not know how to perform microsurgery and has to(More)
The development of experimental microsurgery can be considered the natural evolution of a diffuse need to increase precision in many fields of surgery. Microsurgery accelerated the possibility of deepening many unclear aspects of pathophysiology, using miniaturized and reproducible experimental models. We report briefly on the fundamental principles of(More)
Fabry disease (FD) is a rare X-linked genetic disorder caused by the deficiency or absent activity of lysosomal α-galactosidase A. Cardiovascular remodelling is a hallmark of FD. The present study aimed to comprehensively evaluate the cardiac, vascular and microvascular status in a population of patients with genetic mutations for FD without left(More)
The authors report their experimental studies on early nutritional changes in 30 gastrectomized rats where intestinal continuity was restored by three different reconstruction methods, i.e., exclusion of the duodenum from alimentary transit (Sweet-Allen method), or duodenal recanalization (Longmire method) or double duodenal and jejunal recanalization(More)
Fabry disease (FD) is an inherited metabolic disorder caused by partial or full inactivation of the lysosomal hydrolase α-galactosidase A (α-GAL). The impairment of α-GAL results in the accumulation of undegraded glycosphingolipids in lysosomes and subsequent cell and microvascular dysfunctions. This study reports the clinical, biochemical, and molecular(More)
The wider application of radiological examinations (ultrasound, computed tomography) has led to the pre-clinical discovery of "masses" in some organs, especially in adrenal gland. As these tumors are incidentally discovered, they are called "incidentalomas", and this term has been universally accepted. As soon as adrenal incidentaloma has been diagnosed it(More)
Many surgical procedures have been proposed in the treatment of varicocele; however, the rate of recurrence and of postoperative complications, together with important correlation of this disease with male sterility, has played an important role in determining the success of microsurgery. In the present brief review, the indications for microsurgery and(More)