[Cardiac involvement in Cooley's disease: study of 11 patients in the post-pediatric age].
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Biomedical subjects
Publications and source records attributed to U Carcassi.
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The frequency of 17 HLA antigens from locus A and locus B has been evaluated by microlymphocytotoxicity test in a population of 233 subjects (157 normal and 76 with deficiency of glucose-6-phosphate dehydrogenase [G-6PD]in red cells) from a village of Sardinia, a mediterranean island relatively close to continental Italy. It appears that G-6-PD-deficient people show a frequency of some HLA antigens (A2, A10, B12, BW35) significatively different from normal Sardinian subjects but close to (A10, BW35) or higher (A2, B12) than that of subjects from peninsular Italy.
The frequency of 17 HLA antigens of loci A and B has been studied by microlymphocytoxicity test in 114 subjects of islet S. Pietro, very close (a few miles) to South-west of Sardinia, but genetically very different from it, deriving the population from a region (Liguria) of continental Northern Italy. The data have been compared with those of a village of Southern Sardinia and with those of a population living in Liguria (continental Italy). The results confirm the striking genetical difference between people of the two islands (S. Pietro and Sardinia) and the close similarity between S. Pietro and Liguria from the genetical point of view.
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Hypertrophic osteoarthropathy (HOA) was first described in 1868 as "hyperostosis of the entire skeleton". It has also been mistaken for acromegaly. In 1887-1888 the first description was given of a dermatological disorder "cutis verticis girata" which coexisted with the peculiar bone anomalies of HOA. In 1890 HOA was named "osteoarthropatie hypertrophiante pneumique". Later a distinction was made between the rare idiopathic (or primary) form, also called "pachydermoperiostosis" and the more common secondary form due to concomitant disorders involving the lungs and pleura. The primary form usually develops shortly after puberty or during adolescence and has not been found associated with underlying disease. Secondary HOA was initially called "hypertrophic pulmonary osteoarthropathy" because it is frequently associated with various malignancies or chronic infections of the lung and pleura. Later, since the site of primary disease may be elsewhere, involving the gut and the cardiovascular, hepatobiliary and endocrine systems, this designation fell into disuse. In some cases of secondary HOA, the osteoarthropatic and facial skin changes subside after pneumonectomy or other procedures. A disease resembling human HOA has been also described in dogs.
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Collagenopathic cardiopathies are a subject of extreme etiologic, pathogenetic and clinical interest. These disorders are associated with congenital or acquired anomalies of the connective tissue and because of the diffusion and nearly total distribution of this tissue, have a higher frequency than what has been previously estimated. The collagenopathic cardiopathies, can be divided into two main groups: one deriving from hereditary connective tissue diseases, and the other from acquired connective tissue diseases. The first group has a Mendelian type of transmission whereas the other appears to be secondary to various kinds of stimuli (viral, immunologic etc.) although polygenic factors are present. Of the first group we considered Marfan's syndrome, the Ehlers-Danlos syndrome, osteogenesis imperfecta, pseudoxanthoma elasticum, cutis laxa and the diseases of the fundamental substance with particular reference to mucopolysaccharidosis type 1H (Hurler's syndrome). In all of these disorders a specific metabolic disturbance is responsible for the cardiovascular damage which is expressed, depending on the specific genetic component in a more or less serious form. Among the acquired diseases of the connective tissue, we examined rheumatoid arthritis, systemic lupus erythematosus, polydermatomyositis, scleroderma; of the reactive arthritis, rheumatic fever; of the seronegative forms, spondyloarthritis, ankylosing spondylitis and Reiter's syndrome, mixed connective tissue disease and Lyme's disease. It must be emphasized that all of these disorders share relatively common pathogenetic characteristics which point to the importance of the presence of various types of antigens, immune complexes and the significant role of some of the histocompatibility antigens, as well as possible disturbances of cell-mediated immunity.(ABSTRACT TRUNCATED AT 250 WORDS)
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Inhibition of cell proliferation, together with the depression of synthesis of non-specific and specific cellular products, are the modes of action of cytotoxic drugs. In systemic autoimmune diseases these actions result in immunosuppressive and anti-inflammatory effects. The adoption of cytotoxic treatment, as well as the choice of the cytotoxic agent and therapeutic strategy in individual patients, depend on the disease status, on the patient's tolerance to previously administered drugs and on the theoretical risk of major side effects. The oncogenic risk and its relationship with the cumulative dose or the duration of traditional administration schedules must be taken into account, even if this is not constant for all cytotoxic drugs. Both in life-threatening and in seriously disabling systemic autoimmune diseases cytotoxic drugs are employed, according to general guidelines, to induce complete or partial remission of active disease in patients intolerant or refractory to corticosteroids and/or to other disease-modifying drugs. Combinations of cytotoxic drugs and other non-specific immunosuppressive agents as well as innovative therapeutic regimens (pulse therapy, alternation of treatments) have been used with encouraging results: in the future cytotoxic drugs may perhaps be used in association with specific immunosuppressive agents in a complementary combination to halt pathologic processes in systemic autoimmune diseases.
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