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Biomedical subjects

G Taddeucci

Publications and source records attributed to G Taddeucci.

7 recordsLinked to original sources
PubMed2000

beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.

GM1-gangliosidosis is a lysosomal storage disorder caused by deficiency of acid beta-galactosidase (GLB1). We report five new beta-galactosidase gene mutations in nine Italian patients and one fetus, segregating in seven unrelated families. Six of the eight patients with the infantile, severe form of the disease presented cardiac involvement, a feature rarely associated with GM1-gangliosidosis. Molecular analysis of the patients' RNA and DNA identified two new RNA splicing defects, three new and three previously described amino acid substitutions. Interestingly, all patients with cardiac involvement were homozygous for one of these mutations: R59H, Y591C, Y591N, or IVS14-2A>G. In contrast, all other patients were compound heterozygous for one of the following mutations: R201H, R482H, G579D, IVS8+2T>C. Although we could not directly correlate the presence of cardiac abnormalities with specific genetic lesions, the mutations identified in patients with cardiomyopathy fell in the GLB1 cDNA region common to the lysosomal enzyme and the Hbeta-Gal-related protein, also known as the elastin binding protein (EBP). Consequently, both molecules are affected by the mutations, and they may contribute differently to the occurrence of specific clinical manifestations.

Amino Acid Sequence↗
PubMed1995

Radiological findings in a case of Menkes' disease.

Menkes' disease, a neurodegenerative progressive X-linked disorder, was diagnosed in a 4-month-old child. The diagnosis was made on the combination of clinical features with laboratory and radiological findings. The pathogenesis of the skeletal findings in Menkes' disease is as yet unclear. Because of the severity of the prognosis and in order to plan treatment, the correct diagnosis has to be reached quickly. Typical manifestations of the syndrome are likely to develop after 3 months of age, with a pleiotropic appearance. In the present case, on the basis of the clinical investigation the patient underwent retrograde cystourethrography, roentgenographic examination of the skeleton, and magnetic resonance imaging of the brain. On analysis of the magnetic resonance imaging, we detected one-sided involvement of both subcortical and cortical parenchyma resembling a unilateral ischemic lesion such as, to our knowledge, has not yet been reported.

Brain↗
PubMed1984

Pattern reversal evoked potentials in infantile spasms.

Visual evoked potentials in response to sinusoidal gratings of various spatial frequencies, alternating in contrast at 8 Hz were recorded from infants affected by an idiopathic form of infantile spasms (West syndrome). In two infants in whom the spasms began at 3 and 5 months of age, respectively, the VEP's were found to be depressed in amplitude at and around a spatial frequency of 3 and 5 c/deg, respectively. This midfrequency depression, which has never been reported in the literature for normal infants, suggests that infantile spasms in idiopathic patients may interfere at least temporarily with the development of visual function.

Evoked Potentials, Visual↗
PubMedDate not supplied

[Gardner syndrome].

The observation of Gardner's syndrome case, in a six year old girl, referred to the hospital for seizures, provides the Authors with the opportunity of reviewing that important subject of the medical and surgical clinical pathology. The diagnostic features and differential diagnosis are described. The current criteria for diagnosis and surveillance of the affected or at risk subjects are outlined. Today the molecular, and, thereafter, the prenatal, neonatal and preclinical diagnosis of the disease, is possible.

Child↗