[Psychological implications of cystic fibrosis].
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Biomedical subjects
Publications and source records attributed to M Antonelli.
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Two children aged 9 and 8 years respectively presenting upper and lower respiratory tract infections from early childhood are presented. In both, nasal mucociliary transport was impaired (greater than 30 min) and electron microscopic examination showed cilia devoided of the inner dynein arms. This ciliary defect is one of those recognized as a cause of the Immotile Cilia Syndrome but is very rare, having been described only once in a boy affected with Kartagener's syndrome, which in turn has been reclassified in the Immotile Cilia Syndrome. Therefore the absence of inner dynein arms observed by us in the respiratory cilia of these two children clearly indicated that similarly to many other genetic disorders the immotile cilia syndrome may be determined by many defects in the axonemal structure.
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The aim of our research is to check if the combined use of radionuclide angiography and Doppler-sonography leads to correct screening of carotid lesions in the neck, independently from the indexes of reliability of the individual examinations. 125 cerebrovascular patients (for a total of 250 carotid studies) were investigated with radionuclide angiography and Doppler-sonography. 100 of these carotids were also angiographically investigated. On the basis combined angioscintigraphic and Doppler results, these patients have been classified in four groups. When both non-invasive examinations result negative, the angiography shows pathological arteries only in 22% of cases. When only radionuclide angiography is positive, the angiography shows pathological findings in 63% of cases: when only Doppler is positive, the angiography confirmation occurs in 72% of cases. Finally, when both non-invasive tests results positive, there is always arterial pathology in the angiography.
A 35 years old male began to show, 16 years after a transient paraplegia, the neurological signs of a multifocal damage of the spinal cord, which progressed slowly and irregularly over a period of several months. The diagnosis of spinal cord angioma was suspected on the basis of an increase of cerebrospinal fluid white cells and proteins, and of opaque myelography, and proved by spinal angiography. After surgical excision a transient flaccid paraplegia regressed in two weeks, substituted by a mild spastic paraparesis.
The most recent advances about cystic fibrosis genetics are revised. Their clinical applications are reviewed: prenatal diagnosis, heterozygote screening, genotype and phenotype correlation, gene therapy.