Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency.
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Biomedical subjects
Publications and source records attributed to C Romano.
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As already described for cystic fibrosis and Friedreich ataxia, the incidence of PKU in Italy has been estimated by determining the increase of consanguineous marriages among 178 couples of PKU parents over the frequencies carefully established for the same marriages in the general Italian population for each of the 95 provinces during a 55-year period. The incidence estimated (between 1/15595 and 1/17815 according to two different formulas) is not very different from the incidence derived from screening programs (almost 1/12000). This indicates that the former method can be applied in Italy to the study of the incidence of other autosomal recessive disorders.
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The discriminative stimulus (cue) property of nicotine was studied in a T-maze paradigm, and the results were analyzed by a new statistical method. For rats trained on 0.4 mg/kg, the ED50 was 0.11 mg/kg. The enantinomer of natural nicotine (+)nicotine was much less potent, and both position isomers of nicotine were inactive. Anabasine, which is active at nicotinic cholinergic receptors, provided the nicotine cue. Cytisine, a potent nicotinic agonist in vitro, was ineffective after SC administration and this was shown to be due to its inability to enter the brain in adequate amounts. High doses of cytisine by the intracerebroventricular route partially provided the cue. The cue was blocked by low doses of mecamylamine and pempidine and by high doses of hexamethonium. The data indicate that the cue receptor is pharmacologically similar to the nicotinic cholinergic receptor in autonomic ganglia.
A new system for the study of the autonomic actions of nicotine in the rat has been developed. It is the oxotremorine-contracted longitudinal muscle of the rat terminal colon, which relaxes transiently in the presence of nicotine. This effect is mediated by nicotinic cholinergic receptors on neuronal structures since it was blocked by hexamethonium and tetrodotoxin. Other nicotinic agonists also caused the muscle strip to relax. Some of these agents 1) provided a greater maximal effect that nicotine, 2) did not show complete cross-desensitization with nicotine and 3) had tetrodotoxin-insensitive components to their action. These agents therefore do not operate solely through the same receptor nicotine does. Nicotine appears to cause relaxation by releasing a nonadrenergic inhibitory substance since 1) alpha and beta adrenergic antagonists are ineffective against nicotine and 2) nicotine retains activity on preparations from reserpinized animals. Nicotine does not cause relaxation by releasing adenosine or ATP since preparations maximally relaxed by adenosine or ATP relax further with nicotine.
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A stereospecific binding site for nicotine has been detected on rat brain membranes. Competition studies with cholinergic agonists suggest that this site is a nicotinic cholinergic receptor.
A decrease in severity of rheumatic fever, in the number of recurrences of the disease, a relative decrease in prevalence of rheumatic heart disease compared to other forms of heart disease are well documented or suggested by the data collected in the last decades. The reasons of the decline are uncertain. Prevalence surveys in more recent years indicate that, while at one time almost all valvular heart disease was considered to be rheumatic in origin, current data suggest that a significant proportion of damaged valves may be attributed to congenital defects or to acquired disease of other etiologies. Bicuspid aortic valve and mitral valve prolapse deserve special mention. The main clinical and echocardiographic features of bicuspid aortic valve and mitral valve prolapse are discussed.
Lung function parameters were examined in 200 asbestos workers. Those exposed to chrysotile alone had less severe impairment than those exposed to both chrysotile and crocidolite. Functional changes did not vary significantly with duration of exposure; however radiographic abnormalities were related to length of exposure. Our results show that, for a population with moderate exposure to asbestos, lung function tests can discriminate smokers and nonsmokers and exposure to different kinds of asbestos, whereas discrepancies among groups with different lengths of exposure are better seen with radiographic methods.
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Instability of the centromeric region of chromosome 1 and multibranched configurations formed by different numbers and combinations of arms of chromosomes 1, 9, and 16 were found in cultured lymphocytes of a 12-year-old male with combined IgA and IgE deficiency. No chromosome abnormalities were found in fibroblast cultures from the patient or in blood cultures from his parents. A possible effect on the frequency of the abnormalities of the almost continuous antibiotic treatment received by the patient was found both in vivo and in vitro, but no abnormalities were found in blood cultures from control subjects who received similar treatment. Interphase association of chromosomes 1, 9, and 16 and a high frequency of interchanges among the centromeric regions of these chromosomes due to the presence of a fragile site is assumed to be the cause of the abnormalities.
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A study has been made of the distribution of bacterial flora in the gastro-enteric tract of rats fed on glycidic, protein and lipidic diets and compared with that found in rats given a standard diet. The flora of the gastro-enteric tract was noted in a fraction adhering to the epithelial cells of the mucous membrane and in a fraction present in the contents of the gastro-enteric tract. Changes resulting from the differences in diet are made particularly at the expense of the adhering flora. In groups fed on a glycidic diet there is a clear prevalence of enterococci, enterobacteria, lactobacilli, peptostreptococci and yeasts. In rats fed on a protein diet the quantity and variability fo the flora are less and clostridia predominate. Where rats are given a lipidic diet there is a prevalence of enterobacteria, lactobacilli and peptostreptococci. An extensive and diversified colonization is noted as a further consequence of differences in diet. The results obtained are discussed in relation to certain pathological intestinal conditions and to results reported elsewhere in the literature.
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