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Biomedical subjects

F Costa

Publications and source records attributed to F Costa.

18 recordsLinked to original sources

A splice site mutation of the beta-spectrin gene causing exon skipping in hereditary elliptocytosis associated with a truncated beta-spectrin chain.

We studied a French kindred with hereditary elliptocytosis associated with a spectrin variant (spectrin LePuy) containing a beta-spectrin chain that is truncated at its C terminus (Dhermy, D., Lecomte, M., Garbarz, M., Bournier, O., Galand, C., Gautero, H., Feo, C., Alloisio, N., Delaunay, J., and Boivin, P. (1982) J. Clin. Invest. 70, 707-715). The structure of the 3' end of the beta-spectrin gene, the region encoding the C terminus of beta-spectrin, was determined. Nucleotide sequencing of amplified genomic DNA revealed a mutation at position +4 (A----G) of the 5' donor consensus splice site of the intron following the third-to-last exon (exon X) in one beta-spectrin allele of a heterozygous patient. Agarose gel electrophoresis of polymerase chain reaction-amplified cDNA revealed an extra band of lower molecular weight, suggesting that the shortened beta-spectrin chain of spectrin LePuy arises from aberrant mRNA splicing. Nucleotide sequencing of the shorter cDNA amplification product revealed that the sequences encoding exon X were absent. Southern blotting of cDNA amplification products confirmed this result. The skipping of exon X causes a shift in the normal reading frame resulting in the encoding of a new amino acid sequence at the C terminus of the mutant beta-spectrin chain. A new in-frame stop codon is encountered following a single residue of this novel sequence.

Amino Acid Sequence

Carbohydrate and lipid metabolism in patients with non-insulin-dependent diabetes mellitus: effects of a low-fat, high-carbohydrate diet vs a diet high in monounsaturated fatty acids.

Nineteen patients affected by non-insulin dependent diabetes mellitus (NIDDM), in good glycemic control (fasting plasma glucose 7.2 +/- 0.3 mmol/L, glycosylated hemoglobin 6.3 +/- 0.2%), underwent three isocaloric dietary phases. In phases 1 and 3 the diet was rich in complex carbohydrates (Carbo) whereas in phase 2 it was rich in monounsaturated fatty acids (Mono). Plasma glucose concentrations were 7.1 +/- 0.3 and 7.2 +/- 0.3 mmol/L for the two Carbo phases and 7.5 +/- 0.4 mmol/L for the Mono phase (NS). Plasma total cholesterol values for the Carbo phases were 6.2 +/- 0.2 and 6.4 +/- 0.2 mmol/L, respectively, and 6.5 +/- 0.2 mmol/L on the Mono phase (NS). Similarly, no significant changes were noticed for plasma triglycerides and high-density-lipoprotein (HDL) cholesterol. Thus, both diets were well-tolerated and did not alter glucose homeostasis or worsen plasma lipid concentrations. Consequently, these results suggest that a wider dietary choice can be made available to NIDDM patients without producing unwanted side effects.

Adult

Observing countertransference in brief dynamic psychotherapy.

Six cases treated with Brief Dynamic Psychotherapy were studied. Initial countertransferential reactions were identified, and expectations were determined concerning the evolution of the patient-therapist relationship. The existence of a basic pattern of emotional response to the patient in the therapist throughout the treatment was observed, and the authors propose to denominate it countertransferential focus. Three clinical vignettes are reported.

Adult

[Atrial fibrillation in a cohort of the elderly: etiopathogenic role of occult hyperthyroidism and diagnostic and therapeutic considerations. Results of the CASTEL (CArdiovascular STudy in the ELderly)].

This work was performed in order to evaluate the weight of hyperthyroidism on the genesis of atrial fibrillation in elderly subjects. The data are from the CASTEL (CArdiovascular STudy in the ELderly), an epidemiologic study performed in a town of northern Italy (Castelfranco Veneto), whose 3088 elderly subjects were called and 2254 enrolled for a 7-year intervention trial. From 2224 elderly persons examined in the present study, 90 had atrial fibrillation (AF) as determined by the presence of Minnesota Code 8-3; the other 2134 were used as control population. In the 90 with AF and in the randomly chosen controls, the thyroid function was studied by means of the TRH-test. Taking into consideration an increase of TSH greater than 0.5 or greater than or greater than 1 muUI/ml over the basal value after TRH administration, 5.5% of subjects with atrial fibrillation had a suppressed response (i.e. hyperthyroidism); taking into consideration a peak value of TSH greater than or equal to 2.3 muUI/ml irrespective to the basal value, the prevalence of hyperthyroidism was higher (17.8%), but not different than in control subjects. In conclusion, hyperthyroidism is frequent in elderly subjects but it does not play a role in the pathophysiology of AF. On the contrary, AF may be explained in the majority of cases by concomitant cardiovascular disease, i.e. left atrial enlargement, arterial hypertension, myocardial ischemia, and heart failure.

Aged

Blind serosurvey of HIV antibodies in newborns in 92 Italian hospitals: a method for monitoring the infection rate in women at time of delivery.

In Italy, drug abusers are the major risk category for HIV infection, representing 67% of all the reported cases of AIDS. This can in part explain the higher incidence of the infection observed in Italian females (17.7%) in comparison with the data reported in Europe (11.5%) or in the U.S. (8.5%). Therefore, anti-HIV screening in newborns reflects the serologic pattern of the respective mothers and can provide a useful tool in evaluating the incidence of the infection in a relatively unselected population. Furthermore, the data collected can provide a good predictive parameter for the rate at which pediatric AIDS will develop. Blood samples were collected on filter paper for routine screenings from 39,102 consecutive newborns in 92 hospital nurseries, from eight different Italian regions, during the period June 1988-April 1989. Blood-saturated disks were screened for anti-HIV antibodies (HIV Ab) using an ELISA; positive results were confirmed using a Western blot. Among the 39,102 blood samples tested, 51 (0.00130, 95% confidence intervals, Poisson distribution of 0.00097-0.00171) were found to be positive for HIV Ab. The distribution pattern of the positive samples among the different regions correlates to the cumulative AIDS incidence rate, with a higher prevalence in urban and industrialized areas.

Blotting, Western

Outcome after a "perfect" Fontan operation.

A study was undertaken to determine the early and long-term outcomes dictated by the Fontan state per se (a state in which the force driving pulmonary blood flow is solely or largely a residue, in the systemic venous pressure, of the main ventricular chamber's contractile force) and the transition (by surgery) to it from the state of congenital heart disease under optimal conditions (after a "perfect" Fontan operation). The primary study design used a solution of a multivariate risk factor equation for death, by which survival rate under optimal conditions was predicted to be 92%, 89%, 88%, 86%, 81%, and 73% at 1 month, 6 months, and 1, 5, 10, and 15 years, respectively, after the Fontan operation. The hazard function (instantaneous risk of death at each moment in time after the operation) had an early rapidly declining phase of hazard that at about 6 months began to give way to a late hazard phase, which was rising by about 6 years after surgery. A secondary study design, using the theory of competing risks, yielded survival and hazard function information very similar to that of the primary study design. The functional capacity of the patients as expressed by New York Heart Association class was less, the longer the period of follow-up. No risk factors (other than older age at time of surgery) were found for the late decline in survival or the decline in functional status. The inference is that the premature decline in survival and functional status and the late rise in hazard function are from the Fontan state per se and that the Fontan operation is, therefore, palliative but not curative.

Adolescent

[Cardiovascular effects of coffee consumption in the aged: the CASTEL epidemiologic study].

The data obtained from 2240 subjects aged 65 years or more from the general population of Castelfranco Veneto (Italy) included in the CASTEL (CArdiovascular STudy in the ELderly) epidemiological Italian project were analyzed in relation to coffee consumption. Subjects were divided into 3 classes: class 1 (N = 109): non coffee drinkers; class 2 (N = 1554): 1 to 2 cups of coffee per day; class 3 (N = 577): 3 or more cups per day. The results were described by ANOVA, Tukey post hoc test and Pearson correlation coefficient with Bonferroni's conservative correction. In classes 2 and 3 total cholesterol, apolipoprotein B100 and calculated LDL-cholesterol were higher than in class 1. The number of cups of coffee per day directly correlated to both the number of cigarettes per day and the number of drinks per week. Although these data seem to indicate a convergence of risk factors (cholesterol, smoking, alcohol) in coffee drinkers, no increase in the prevalence of cardiovascular events was found in coffee drinkers in comparison with non drinkers. This could be attributed to the fact that prevalence of hypertension and diabetes did not increase with increasing coffee consumption; on the contrary, they were lower in classes 2 and 3 than in class 1.

Age Factors

[Description of a case of rheumatoid pleuropneumopathy with primary onset].

A case of pleuropulmonary manifestation as the first symptom of rheumatoid arthritis is reported; articular involvement followed at a later stage. Pleuropulmonary localisation of rheumatoid arthritis is varied and infrequent; it is seldom the first manifestation of illness. This case was particular because isolated pleuropulmonary symptom appeared in a subject negative rheumatoid factor. The patient improved after initial NSAIDS treatment, followed by corticosteroids and NSAIDS together, leading to the resolution of clinical and x-ray symptoms.

Arthritis, Rheumatoid

Liver triglyceride accumulation after chronic ethanol administration: a possible protective role of metadoxina and ubiquinone.

Hepatoprotective actions of metadoxina and ubiquinone have been studied in alcoholic rats by evaluating hepatic triglyceride accumulation and serum biochemical parameters of liver function. The two drug-treated groups displayed significantly lower triglyceride concentrations as compared to the ethanol-treated group. No significant differences were found among the two drug-treated and the control groups. Electron-microscopic abnormalities were found only in ethanol-treated rats. Serum biochemical parameters of liver function did not show any significant difference among all four groups. These results suggest a possible protective role of metadoxina and ubiquinone in ethanol-induced liver triglyceride accumulation.

Animals

Evaluation of the sensitivity of microfilter paper assays in an anthropological study: results of samples from Cameroon and Tanzania.

Microfilter absorbed whole blood samples from 223 Tanzanian babies and 189 adults from Cameroon have been examined. Blood specimens are difficult to obtain from African suburban and rural areas, and lack of storage and transportation facilities can prevent the collection of samples. We evaluated some microassays employing whole blood collected on filter paper. This method is a well established technique in neonatal screening for endocrinometabolic diseases. We also developed microassays for whole dried blood spots to type AB0 blood groups and HIV disease using commercial reagents. Phenotype and gene frequencies for AB0 and hemoglobin systems as well as our results concerning the typings of thyroxine (T4), thyroid stimulating hormone (TSH), human immunodeficiency virus (HIV) and hepatitis B virus (HBV) are reported.

ABO Blood-Group System

Integrated excitatory response to microinjections of L-glutamic acid into the reticular system of the toad.

Microinjections of L-glutamic acid into the mesencephalic tegmentum and diencephalon of anesthetized toads evoked an excitatory response consisting of electrocephalographic and electromyographic activation, and a rise in arterial blood pressure. Electromyographic responses were reduced or absent in diencephalically injected toads. Except for this case, all other components of the response always appeared together and presented the same time course. L-glutamic acid was able to activate a group of neurons at different levels of the reticular system involved in an integrated response of ergotropic nature.

Animals

[The small kidney].

The diseases capable of giving rise to congenital or acquired small kidney are examined, together with their pathogenesis and radiological pictures. Various examples are presented of each form.

Adolescent

Double pylorus: report of two cases and review of the literature.

Double pylorus is a rare condition consisting of a double communication between gastric antrum and duodenal bulb; in most cases it is a complication of penetrating ulcer, sometimes it is a congenital abnormality. The prevalence of this rare anomaly ranges from 0.02% to 0.13%; the male:female ratio is about 2:1. Two cases of acquired double pylorus are reported with a review of the literature. The first case represented an occasional report; in the other one the development of double pylorus from confluent prepiloric and bulbar ulcers was documented through serial endoscopies. Both patients were affected with chronic renal failure and referred previous treatment with diclofenac; however, their relationship with double pylorus onset remains unproven.

Duodenal Diseases