Biomedical subjects

R De Leo

Publications and source records attributed to R De Leo.

6 recordsLinked to original sources

PubMed1998

Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy.

We report a patient with a large intragenic dystrophin deletion of exons 17-51 inclusive associated with congenital cataract and mild Becker muscular dystrophy. The cataract was similar to the congenital cataract described in the mdx mouse. The loss of 68% of the rod domain including hinge 2 and 3 regions did not adversely affect the correct localization of the dystrophin and the association with the dystrophin-associated glycoprotein complex. This observation may have implications for minigenes suitable for gene therapy.

Cataract↗

PubMed1995

Analysis of beta-thalassemia mutations in the United Arab Emirates provides evidence for recurrent origin of the IVSI nt 5 (G-C) mutation.

Beta-thalassemia mutations were characterized in a sample of 70 patients from United Arab Emirates (U.A.E.), resulting in an enlargement of the spectrum of types found in the country. The complete association between the most common IVS I nt 5 (G-C) mutation and a specific haplotype reveals an independent origin of this mutation in U.A.E.

DNA Mutational Analysis↗

PubMed1994

A report on 528 intragenic deletions detected in DMD and BMD patients by an Italian collaborative study.

The results of a collaborative study involving about one third of the total DMD and BMD cases living in the Italian territory are reported. The analysis of the breakpoint frequency by intron revealed significant differences among regional groups of DMD patients (for introns 2, 11 and 50 in Sardinia and for introns 9 and 45 in northeastern Italy), whereas no regional differences were observed among regional groups of BMD patients. These differences involve the same Italian regions which previous studies, performed by different markers, identified as "genetically differentiated". The data support the possibility of a differential distribution among populations of some intronic sequences, facilitating the origin of deletion breakpoints within the dystrophin gene.

Dystrophin↗

PubMed1986

Absorbed power distributions from single or multiple waveguide applicators during microwave hyperthermia.

A theoretical model has been developed to calculate the power distributions in biological-like tissues in direct contact with waveguide applicators. A numerical solution of the coupled integral equations is performed by means of their transformation into matrix equations by using the method of moments, where the biological tissue and the applicator are described by two independent matrices. The model permits an accurate evaluation of the electric field at the aperture. The application of this method for the evaluation of arrays is also discussed. Power contour plots produced by applicators routinely used in clinics have been computed and compared with experimental results obtained with tissue-equivalent phantoms for three typical bodies: homogeneous, stratified and inhomogeneous.

Humans↗

PubMedDate not supplied

Computer modelling of brain cortex excitation by magnetic field pulses.

In spite of many clinical and experimental applications, the technique of transcranial magnetic stimulation still presents obscure aspects. This especially concerns safety parameters and the exact characterization of the current induced by a single magnetic pulse. The model proposed consists of an equivalent electric network derived by Maxwell's equations and applied to discretized magnetic resonance imaging of a normal subject. This model allows accurate prediction of current distribution, charge per phase and dissipated energy.

Cerebral Cortex↗

PubMedDate not supplied

An accurate 3-D model for magnetic stimulation of the brain cortex.

We present a 3-D model for the simulation of a realistic clinical situation during magnetic stimulation. The electromagnetic problem is solved by reconstructing the inhomogeneous head tissues from magnetic resonance images and associating relative values of conductivity to each tissue. Application of Maxwell's equations in the integral form leads to an equivalent 3-D electrical network, whose solution gives the current density distribution in the brain. The high spatial resolution and rigorous electromagnetic approach make this model an accurate and useful tool for stimulator design and for estimating the efficiency and safety of this clinical methodology.

Algorithms↗