Primary ciliary dyskinesia.
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Biomedical subjects
Publications and source records attributed to U Caterino.
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Behçet's disease (BD) is a chronic multisystem vasculitis, affecting many organs and the vascular system, of unknown aetiology. Eyes, skin, joints, the oral cavity, the central nervous system, and, less frequently, heart, lung, kidney, the genital system and the gastrointestinal tract can be involved. Intrathoracic manifestations of BD consist mainly of thromboembolism of the superior vena cava and/or other mediastinal veins; aneurysms of the aorta and pulmonary arteries; pulmonary infarct and haemorrhage; pleural effusion; and, rarely, myocardial and/or hilar lymphoid involvement. In the present case, the patient presented with BD with an asymptomatic subpleural lung mass and bilateral pulmonary artery enlargement. The patient was treated with a combination of surgical and medical therapy with complete resolution of the lung involvement and without any parenchymal relapses after an 8-month follow-up.
Pulmonary epithelioid haemangioendothelioma (PEH) is a rare lung tumour of vascular origin and low-grade malignancy that affects various organs: liver, central nervous system, lung, etc. A rare malignant case of PEH is described. The cryptic clinical appearance and the nonspecific results of radiography and haematological tests caused great difficulty in arriving at a definite diagnosis. Histological analysis and immunohistochemical detection of CD31+ (a membrane receptor and a sensitive and specific marker for vascular lesions), on open lung biopsy, enabled the correct diagnosis to be made.
Improvements in biological research and the development of new techniques for human health protection require animal experimentation of various species. In particular, animal models are always necessary to test new therapies for the treatment of various human diseases. The latest advances in molecular biology involving genetic modification are aimed at developing new animal models of human diseases that are not present in spontaneous murine broods or obtainable with other experimental manipulations. Transgenic techniques and, in particular, the possibility to directly modify specific genetic information in the experimental animal have led to the acquisition of important knowledge on the physiologic functions of many proteins and their function in the course of various diseases. The advent of new transgenic animals is opening up new and interesting frontiers, full of hope and opportunity, for the research into pulmonary diseases. New advances in cystic fibrosis, emphysema, and pulmonary fibrosis have been made through the study of a large number of proteins implicated in the complex of acute and chronic inflammatory processes of lung parenchyma, which are responsible for permanent changes in organ structure and function. Recent studies carried out on murine inbred strains have yielded significant new data on the multifactor origin of pulmonary disease, because of their correlation with the major histocompatibility complex (H2 in mice) or through the different genetic map of the strains. Today it is possible to outweigh or potentiate the function and expression of some genes, obtaining a deficit or abundance, respectively, of specific proteins. These techniques have permitted and will continue to permit the development of new models of human disease, leading to further therapeutic advances as a consequence.
The effects of environmental pollutants on human health and, in particular, on the respiratory apparatus, can be studied fundamentally by means of epidemiological and controlled exposure studies. One epidemiological study has reported the results of research which compared pulmonary function in adults with the average annual concentration of major pollutants in 8 geographical areas of Switzerland; the results demonstrated a direct relationship between atmospheric pollution and a worsening of pulmonary function. Controlled exposure studies, on the other hand, document the effects of specific air pollutants. Ozone (O3) is a secondary pollutant produced in the atmosphere by photochemical reactions which exerts a potent antioxidant and peroxidant action on biomolecules, whether intra or extracellular, with the production of free radicals. Nitrogen dioxide (NO2) is found mainly indoors due to its being a product of combustion of kitchen gas--it possesses low reactivity and low solubility that allows its penetration to the periphery of the lungs; the harmful mechanisms induced by NO2 are not well understood and could differ from those of O3. Sulphur dioxide (SO2) is found above all outdoors and is documented to affect the respiratory function of asthmatic subjects at concentrations above 1 part per million (ppm) while it has a doubtful effect on healthy subjects. Suspended particulate matter (SPM) is one of the major pollutants present in the air that comes mainly from vehicle exhausts, especially diesel models. Although the epidemiological data indicates a close relationship with both cardiac and respiratory pathology, the biological mechanisms by which it exerts its toxicity are still not well established. The great variability in individual response to pollutants suggests the need for further sensitivity tests to be carried out: it is of importance to identify specific genes with a stabilising role in cellular protection against oxidative stress, that influence the production of chemical mediators of inflammation.