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Biomedical subjects

A Serra

Publications and source records attributed to A Serra.

At least 181 records · Page 10Linked to original sources

Percutaneous mitral valvuloplasty in surgical high risk patients.

Among 126 consecutive patients undergoing percutaneous mitral valvuloplasty, 34 were judged to be at high risk for surgery on the basis of age greater than 70 years (n = 13), New York Heart Association functional class IV (n = 11), ejection fraction less than or equal to 35% (n = 3), severe pulmonary hypertension (n = 7), need for associated coronary bypass (n = 4) or additional valve surgery (n = 20) or severe pulmonary disease (n = 3). Baseline features of the high risk group were substantially worse than those of the other patients: age (65 +/- 11 versus 49 +/- 12 years; p = 0.0001) and echocardiographic score (9.4 +/- 1.8 versus 8.2 +/- 1.5; p = 0.005) were higher, whereas cardiac output (2.9 +/- 0.9 versus 4.1 +/- 1.2 liters/min; p = 0.0001) and mitral valve area (0.9 +/- 0.4 versus 1.1 +/- 0.3 mm2; p = 0.002) were lower. Three high risk patients experienced technical failures and three others had major complications. Among the remaining 28 patients, 18 (65%) had a complete hemodynamic success, 4 (14%) an incomplete success and 6 (21%) hemodynamic failure. Stepwise logistic regression analysis retained echocardiographic score as the only factor independently predictive of success. The percent increase in mitral valve area also correlated with echocardiographic score (r = 0.51, p less than 0.01).(ABSTRACT TRUNCATED AT 250 WORDS)

Aged↗

A newly-characterized alpha-thalassaemia-1 deletion removes the entire alpha-like globin gene cluster in an Italian family.

We describe a new deletional form of alpha thalassaemia which encompasses the entire alpha-like globin gene cluster in a 15-year-old boy of Southern Italian descent. The deletion removes approximately 31 kb, the 5'-end point is located approximately 4 kb upstream of the xi gene, while the 3'-end point maps between the alpha 1- and theta 1-globin genes. The interaction of this deletion with the common-alpha 3.7 form gives origin to a classical form of haemoglobin (Hb) H disease in the propositus of this study. Deletional forms of xi alpha-thalassaemia are uncommon in the Mediterranean basin; as for other unusual xi alpha-thalassaemia forms, heterozygotes for this mutation may escape detection in population surveys based on zeta and alpha probes.

Adolescent↗

[Effect of subvalvular disease on results of percutaneous mitral valvotomy].

In order to study the results of percutaneous mitral valvuloplasty (PMV), subvalvular mitral disease was classified using: 1) the transthoracic echo score (0-4), 2) an index derived from left ventricular angiography defined as the ratio of the distance from the extremity of the papillary muscle and the mitral valve in systole and the distance between the beginning of the aortic root and the apex of the left ventricle in diastole. This index of subvalvular fibrosis could be measured in 80 out of our first 103 PMV performed without complication; the mitral surface are a increased from 1.1 +/- 0.4 to 2.2 +/- 0.8 cm2 (p less than 0.0001). After PMV, mitral regurgitation was observed or was aggravated in 28 patients (35%), by one grade in 25 and by more than one grade in 3. The overall echo score was 8.3 +/- 1.5 and that of subvalvular fibrosis was 2 +/- 0.6. The angiographic index of subvalvular fibrosis was 0.18 +/- 0.04. No correlation was observed between echo and angiographic appreciation of subvalvular fibrosis. Multivariate analyses were selected: 1) the overall echocardiographic score (r = -0.45, p less than 0.0001), but not the angiographic index of subvalvular fibrosis or echocardiographic score of subvalvular fibrosis, was predictive of increase of valve surface area; 2) the absence of mitral regurgitation before PMV (p less than 0.01) and an angiographic index of subvalvular fibrosis less than or equal to 0.15 (p less than 0.03) were predictive of increased mitral regurgitation.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

Red cell membrane dynamic properties and erythrocyte metabolic parameters in essential hypertension: preliminary report.

In a group of 12 subjects with essential hypertension (EH), we evaluated the erythrocyte membrane fluidity and red cell membrane transverse fluidity gradient. We also evaluated the total red cell Ca content, the red cell cytosolic free calcium, the red cell membrane cholesterol/phospholipid ratio and the red cell membrane individual phospholipids. From the data obtained, it is evident that the erythrocyte membrane fluidity and red cell membrane transverse fluidity gradient discriminate normals from hypertensives. None of the red cell metabolic parameters is able, however, to differentiate normals from hypertensive subjects. Our data underline the abnormality of the red cell membrane dynamic properties in hypertension; this abnormality is not, however, related to the red cell metabolic parameters considered.

Adult↗

Total red cell calcium content, cytosolic red cell free calcium and erythrocyte membrane dynamic properties in diabetes mellitus.

In a group of diabetics subdivided for type (12 of type 1 and 12 of type 2), we evaluated the total red cell Ca content, red cell cytosolic free calcium, erythrocyte membrane fluidity and erythrocyte membrane protein lateral mobility. From the results obtained, it is evident that the total red cell Ca content does not discriminate normals from type 1 and 2 diabetics, whereas the red cell cytosolic free calcium does differentiate between these diabetic types. Erythrocyte membrane fluidity and erythrocyte protein lateral mobility discriminate normals from type 1 and 2 diabetics. In normals and in diabetics of type 1 and 2, no relationship is evident between total red cell Ca content, membrane fluidity and membrane protein lateral mobility. A slight, but significant negative correlation between red cell cytosolic free calcium values and parameters reflecting the red cell dynamic properties is present in type 2 diabetics only.

Adolescent↗

Rheological determinants and red cell lipidic pattern in essential obesity, in obese subjects with non-insulin-dependent diabetes mellitus (NIDDM) and in obese subjects with impaired glucose tolerance (IGT).

In a group of subjects with essential obesity, in a group of obese subjects with non-insulin dependent diabetes mellitus (NIDDM), and in a group of obese subjects with impaired glucose tolerance (IGT), we evaluated whole-blood filtration, mean erythrocyte aggregation, erythrocyte membrane fluidity and red cell lipid pattern. From these data, it is evident that the macro- and microrheological determinants are able to discriminate normals from each group of obese subjects. Regarding the red cell lipids, few are the variations between each group of obese subjects and normal controls.

Adult↗

Evaluation of efficacy and tolerability of Nilutamide and Buserelin in the treatment of advanced prostate cancer.

Several different medical strategies have been proposed for the treatment of advanced prostatic cancer: androgen withdrawal by surgical castration on indirect suppression of androgen production by estrogen or estrogen-like substances, antiandrogen compounds or LH-RH analogues. The Authors evaluated in detail tolerability and efficacy of a combination therapy of a LHRH analogue (Buserelin) and a pure antiandrogen (Nilutamide) in a group of 15 patients with advanced prostate cancer (stage D) followed over a period of six months.

Aged↗

[Immediate results and mid-term follow-up after percutaneous mitral valve replacement].

Percutaneous mitral valvuloplasty (PMV) was performed by the anterograde transseptal approach (double balloon technique) in 154 patients with symptomatic mitral stenosis. The mean age of the patients was high (53 +/- 14 years), 87% were women, 68% were in functional Classes III or IV of the NYHA and 37 (24%) had previously undergone surgical commissurotomy. The echocardiographic score was 8.5 +/- 1.6. PMV could not be completed because of a technical failure or a complication in 14 cases (9%). In the other patients, PMV increased mitral surface area from 1.0 +/- 0.3 to 2.0 +/- 0.8 cm2 (p less than 0.0001). A haemodynamic success (greater than or equal to 25% increase in mitral surface area and final area greater than or equal to 1.5 cm2) was obtained in 104 patients (75%). The predicting factors of success were echocardiographic score (8.1 +/- 1.4 versus 9.4 +/- 1.7; p less than 0.0001) and cardiac output (4.0 +/- 1.1 versus 3.0 +/- 1.0/l/min; p less than 0.0001). The duration of the procedure, the technical failure rate and the frequency of cardiac perforation were influenced by the learning curve. The degree of mitral regurgitation increased after PMV in 34% of cases, usually by one grade and without clinical or haemodynamic consequences. Acute mitral regurgitation was a rare (3%) and impredictable complication. An interatrial shunt was demonstrated in 80% of cases after PMV but the Qp/Qs ratio rarely exceeded 1.5 (11%). This shunt disappeared or decreased in the majority of cases during follow-up. The clinical result was an improvement of at least one functional Class in 83% of cases at 6 months.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

[Detection of strains of E. coli producing STa toxin in the feces of patients with diarrhea using a competitive ELISA system].

We evaluate the presence of heat-stable STa toxin producers E. coli strains from stools of patients with acute diarrhoea. As detection method, we used a commercially-available enzyme-linked competitive assay (ELISA). Over a three months period, 279 E. coli strains were analyzed. Only two (0.71%) were STa toxin producers. Both isolates are from pediatric cases (2 and 4 years of age), without any epidemiologic relationship between them. Therefore, we conclude that this infection could be considered as a non-epidemic community-acquired diarrhoeal disease.

Acute Disease↗

[Percutaneous mitral valvuloplasty. An analysis of the immediate results].

Percutaneous mitral valvuloplasty (PMV) was performed by the anterograde transseptal approach in 113 patients with symptomatic mitral stenosis. Mean age was 53 +/- 14 years and 89% were female. PMV resulted in a marked decrease in mitral gradient from 16 +/- 5 to 6 +/- 3 mmHg (p less than 0.0001) and a significant increase in mitral valve area from 1.09 +/- 0.36 to 2.12 +/- 0.83 cm2 (p less than 0.0001). An optimal hemodynamic result (gain in valve area greater than or equal to 25% and post-PMV valve area greater than or equal to 1.5 cm2) was obtained in 82 patients (73%). Multivariate statistical analysis selected as independent predictors of an optimal result: normal cardiac index (p = 0.0001), NYHA functional class less than 3 (p = 0.002), smaller left atrial diameter (p = 0.005), and echocardiographic score less than or equal to 8 (p = 0.01). The lowest frequency of optimal results was observed in patients with echocardiographic scores greater than or equal to 11 (20%). Three patients died (2.6%). All deaths occurred among the first 34 patients and none in the last 79 (p less than 0.05). Morbidity was also influenced by a learning curve effect. Mitral regurgitation developed or increased in severity in 38% of patients. This increase was mild (1 degree) in 85% of cases. Although the incidence of atrial shunting was high (76% by indicator dilution curve and 33% by oximetry), their magnitude was usually small (mean Qp/Qs 1.23 +/- 0.23) and lacked clinical significance. In conclusion, PMV provides excellent immediate hemodynamic results with low mortality and morbidity risks, specially once experience has been gained with this technique. Patients with echocardiographic scores less than or equal to 8 and smaller left atrial diameters, usually younger and less symptomatic, are the best candidates for PMV.

Adult↗

New type of Bcr/Abl junction in Philadelphia chromosome-positive chronic myelogenous leukemia.

A new and rare type of Bcr/Abl junction between exon C3 of the 3' portion of the Bcr gene and Abl exon 2 has been identified in the leukemic cells of two Ph1-positive chronic myelogenous leukemia patients in chronic phase. This is the fourth type of Bcr/Abl junction so far identified in Ph1-positive hematologic malignancies and is a consequence of an unusual breakpoint position on chromosome 22 that falls approximately 20 kb downstream of the major breakpoint cluster region (bcr) of the Bcr gene. The new hybrid mRNA is 540 base pairs (bp) longer than that expressed by the K562 cell line and could codify for a Bcr/Abl protein carrying 180 additional aminoacids with respect to the larger P210 protein so far identified. The hematologic phenotype expressed by the two patients carrying this unusual type of Bcr/Abl rearrangement does not significantly differ from that commonly seen in chronic myelogenous leukemia.

Amino Acid Sequence↗

A new hereditary persistence of fetal hemoglobin deletion has the breakpoint within the 3' beta-globin gene enhancer.

A new deletion of the beta-globin gene cluster has been characterized in two Italian brothers who are heterozygous carriers of a G gamma A gamma hereditary persistence of fetal hemoglobin (HPFH). Restriction endonuclease mapping and DNA sequencing of the region encompassing the breakpoint show that the deletion starts 3.2 kilobases (kb) upstream from the delta gene and ends within the enhancer region 3' to the beta-globin gene. Here the deletion removes one of the four binding sites for an erythroid specific transcriptional factor (NF-E1). The molecular comparison of the new deletion with others of similar size and location but associated with a delta beta-thalassemia phenotype suggests that the residual enhancer element, relocated near gamma genes, may increase the fetal hemoglobin (HbF) expression above the level observed in delta beta-thalassemia.

Adult↗

[Pulmonary hypertrophic osteoarthropathy of Pierre-Marie-Bamberger. Discussion of 5 cases and review of the literature].

Hypertrophic osteoarthropathy (HOA) may be defined as a syndrome of chronic proliferative periostitis of the long bones, clubbing of the fingers and toes, arthralgia and or arthritis, oligo- or polysynovitis. It is often associated with primary pulmonary carcinoma, rarely with other intra- or extrathoracic disease processes. With the present report, the Authors would like to contribute some informations on the clinical aspects of pulmonary HOA and a review of literature.

Adult↗

Trisomy 21: conference report and 1990 update.

The most relevant data and stimulating ideas presented and discussed at the symposium are briefly summarized. They centered around four major foci: the genotype, the phenotype, the pathogenesis of Down syndrome (DS), and the Down person. The molecular genetic approaches to the isolation of genes encoded by chromosome 21, the definition of a possible "critical region," and the acquisition of further insights on the origin of trisomy 21 were the main topics of the analysis of the genotype. The study of the phenotype concentrated essentially on three complex traits related to the nervous, immune, and hematologic systems, which show great sensitivity to developmental disturbances, with major effects on DS subjects' health and behavior. The difficulties of investigating the pathogenesis of the syndrome were outlined, but the theoretical bases for devising sound and complete experimental approaches were also delineated. Finally, the special attention that in the last decade the medical and sociopsychological sciences gave to Down persons was also underlined, and future developments indicated. DS still remains a challenge to science and medicine; however, from the symposium emerged a less pessimistic view on actual potentialities for a decisive advancement in its basic knowledge.

Down Syndrome↗

Potential gene sequence isolation and regional mapping in human chromosome 21.

The transcription start sites of many genes are associated with CpG-rich DNA regions (CpG islands) containing clusters of rare cutting, methylation-sensitive restriction enzyme sites [Bird, 1986]. To detect gene sequences from human chromosome 21, we have screened cloned DNA fragments from a chromosome 21-specific cosmid library for the presence of such restriction sites. Several DNA fragments containing rare cutter sites, including Sac II, were isolated and five of them partially characterized. The average insert size of the fragments was 38.4 kb. By using a panel of somatic cell hybrids, one insert was assigned to the distal part of region 21q21, three fragments to the region 21q22.1, and one sequence to the segment 21q22.2-22.3. Restriction mapping showed clusters of rare cutter sites in at least three of the cloned fragments, suggesting the presence of CpG islands. These fragments are thus good candidates for carriers of coding sequences.

Animals↗