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Biomedical subjects

A Forabosco

Publications and source records attributed to A Forabosco.

At least 127 records · Page 7Linked to original sources

Morphological features and measurements in a human fetus with karyotype 69, XXX: comparison with fetuses of the same CRL, without chromosomal anomalies.

A triploid fetus (karyotype 69, XXX) with crown-rump length (CRL) 94 mm, presenting micro- and retrognathia, low-set ears and crooked feet, was cleared and double-stained with alizarin red S and alcian blue for detecting the ossification patterns in the vertebral column, ribs, ischium, limbs, and face. Longitudinal measurements of some long bones in the upper (humerus, ulna, radius) and lower (femur, tibia, fibula) limb were taken. The values of both the total length (TL) and the ossified part (OL) of each long bone, as well as the OL/TL per cent ratio were considered. Reference points were located on the mandible, i.e. condylar process (Pcl), coronoid process (Pco), gnathion (GN), gonion (GO), superior symphyseal point (SSP) for measuring linear dimensions. Since the aim of this work was to assess the influence of triploidy 69, XXX the skeletal development and growth patterns, all values obtained in the examined specimen were related with those relative to a group of fetuses, without any detectable malformation and chromosomal anomalies, with a CRL mean value of 93 mm. Results evidenced that the triploid fetus presented growth restriction and that the vertebral centra ossification and the mandibular development were much delayed with the normal ossification patterns.

Alcian Blue↗

[Neuropathology of the Turner syndrome].

We report the neuropathologic examination of a neonatal case of Turner's syndrome (45,XO). We have found some mild irregularities in the cortical organization, notably in frontal and hippocampal regions. In the frontal cortex such anomalies affected particularly the more superficial layers essentially sparing the migrating process which was largely achieved in its fundamental phases. The hippocampal dentate gyrus appeared abnormally infolded. The cerebellum was hypoplasic and contained three types of abnormalities, at least: abundant paradentate matrix cell nests, a large mass of dysplastic cerebellar gyri along the ventral wall of the 4th ventricle and, finally, multiple voluminous heterotopias of macroneurons (possibly, Purkinje cells) in the subcortical white matter. In addition, there were two small olivary heterotopias in the medulla oblongata. The correct identification of all neuropathologic anomalies has been possible for having employed the method of whole brain serial sectioning. We have correlated such cortical, cerebellar and truncal abnormalities to those encountered in similar conditions as lissencephaly, Zellweger's disease and chromosomal trisomies. The pathogenetic mechanisms triggered by the absence of an X chromosome can affect the neuronal migration, but only after the cortical hemispheric one has been almost completely ended. This could explain why cerebellar and olivary neuronal migration are exclusively affected, being there the migration process chronologically slowed down during the normal neurogenesis. There means we might date after the 4th fetal months the neuronal migration trouble. Finally, we would suggest the soft cortical changes in such crucial regions as the frontal and hippocampal cortex to be possibly responsible for the degree of mental retardation seen in these patients.(ABSTRACT TRUNCATED AT 250 WORDS)

Brain↗