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Biomedical subjects

A Binda

Publications and source records attributed to A Binda.

11 recordsLinked to original sources

Plasmid vectors for selecting IS1-promoted deletions in cloned DNA: sequence analysis of the omega interposon.

We have constructed two plasmid vectors which allow selection for in vivo deletions within cloned DNA fragments. The plasmids are derivatives of pBR322 which carry the Escherichia coli rpsL (strA) gene, known to confer a dominant streptomycin (Sm)-sensitivity phenotype to the host cell, and a copy of the IS1 transposable element. Sm-resistant strains that harbor these plasmids display sensitivity to Sm. Spontaneous IS1-promoted deletions across the rpsL gene can be isolated simply by selection for Sm resistance. Hence, nested sets of deletions of a cloned DNA can be obtained and sequenced with an IS1-specific primer. Using this approach, we have determined the complete nucleotide sequence of the omega interposon [Prentki and Krisch, Gene 29 (1984) 303-313].

Amino Acid Sequence

Cardiac alterations in 36 consecutive patients with idiopathic haemochromatosis: polygraphic and echocardiographic evaluation.

Thirty-six consecutive patients with idiopathic haemochromatosis (IH) were studied by electrocardiography (ECG), polygraphy, M-mode and 2-D echocardiography and Doppler-echocardiography. No significant correlations were found between ECG, PEP/LVET ratio and echocardiographic measurements. Left ventricular (LV) enlargement with impaired LV systolic function was present only in three patients (5.5%), of whom two died during iron-depleting therapy because of cardiovascular complications. Compared with controls, echocardiographic abnormalities were significantly more frequent and marked in subjects with higher iron overload than in those in whom it was lower. Ten patients were studied before and after iron depletion, nine of whom had only mild echocardiographic abnormalities at baseline examination. Significant reduction of end-diastolic thickness of the interventricular septum and LV mass (P less than 0.01 and less than 0.02 respectively) was observed. Also the end-diastolic thickness of the LV posterior wall and the end-systolic diameter of the left atrium reduced although not to a significant degree. The increased thickness of ventricular walls without impairment of LV systolic function is probably the first and still reversible cardiac alteration due to iron deposition in the myocardium. Later, with increasing iron overload, LV function becomes impaired and dilated cardiomyopathy develops. Early diagnosis and treatment of IH cardiopathy is needed before irreversible cardiac damage occurs.

Adult

Ubidecarenone in the treatment of mitochondrial myopathies: a multi-center double-blind trial.

Forty-four patients with mitochondrial myopathies were treated with Ubidecarenone (CoQ10) for 6 months in an open multi-center trial. No side effects of the drug were observed. Sixteen patients showing at least 25% decrease of post-exercise lactate levels were selected as responders. Responsiveness was apparently not related to CoQ10 level in serum and platelets or to the presence or absence of mtDNA deletions. The responders were treated for a further 3 months with CoQ10 or placebo in the second blind part of the trial; no significant differences were observed between the 2 groups. It is not clear why CoQ10 had therapeutic effects in some patients and not in others with the same clinical presentation and biochemical defect, and we failed to identify candidate responders before treatment. At the dose of CoQ10 used in this study (2 mg/kg/day) the therapy requires a long administration time before a response is seen.

Blood Platelets

Myocardial hydatid cyst ruptured into the pericardium: cross-sectional echocardiographic study and surgical treatment.

We describe a patient with a large intramyocardial hydatid cyst lying in the postero-lateral segment of the left ventricle near the atrioventricular groove level which ruptured into the pericardial sac, resulting in cardiac tamponade. Cross-sectional echocardiographic examination from a modified four-chamber apical view showed the multiloculated cyst and the breach connecting it to the pericardial sac, allowing for the definitive diagnosis and indication for emergency cardiac surgery. The risks of pericardiocentesis and invasive diagnostic procedures could thus be avoided.

Adult

Clinical and biochemical correlations in mitochondrial myopathies treated with coenzyme Q10.

We tested the efficacy of coenzyme Q10 (ubidecarenone, CoQ10) therapy in patients with Kearns-Sayre syndrome and other mitochondrial myopathies with chronic progressive external ophthalmoplegia (CPEO). We treated seven patients for 1 year with daily oral administration of 120 mg of CoQ10. Throughout the treatment most of our patients showed a progressive reduction of serum lactate and pyruvate levels following standard muscle exercise and generally improved neurologic functions. The ECG and echocardiogram showed no significant changes in our patients. None of our patients showed any improvement in ptosis and CPEO.

Adolescent

Hemodynamic evaluation by M-mode echocardiography in acute myocardial infarction.

We assessed the relationship between echocardiographic and hemodynamic parameters in 28 patients with documented acute myocardial infarction (AMI), who underwent M-mode echocardiography and Swan-Ganz catheterization during the same hospitalization. Patients with valvular heart disease were excluded from the study. On mitral valve echogram, DE interval was measured and the area enclosed by mitral valve echogram during DE interval (DE subarea ) was calculated in each echocardiogram. DE subarea /DE interval ratio was computed for each measurement set. Hemodynamic parameters were obtained in the usual fashion. Patients with pulmonary artery wedge pressure (PWP) less than 18 mm Hg showed a DE interval markedly longer than patients with PWP greater than 18 mm Hg: 81.72 +/- 15.23 vs 55.12 +/- 9.85 msec (p less than 0.001). Patients with cardiac index greater than 2.2 L min-1 m-2 had a DE subarea /DE interval ratio greater than patients with cardiac index less than 2.2 L min-1 m-2: 0.169 +/- 0.035 vs 0.094 +/- 0.017 dm2 sec-1 (p less than 0.001). Echocardiographic and hemodynamic data were then correlated in the whole study group, and it was found that DE interval was significantly (p less than 0.001) and inversely correlated to PWP; stroke index more than cardiac index was correlated (p less than 0.005) both to DE subarea /DE interval ratio and to DE interval itself; DE interval was not affected by heart rate. We were able to categorize the patients into four subsets on the basis of echocardiographic measurements. Our findings suggest the possibility of providing, through M-mode echocardiography, a noninvasive and accurate evaluation of PWP and stroke index.

Adult

[Control of anticoagulant therapy with coumarin derivatives. Evolution of the tests used and their standardization].

Levels of hypocoagulabity induced with coumarin derivatives (aconocoumarin) were determined in 10 patients Quick's test was used to calibrate commercially available thromboplastin reagents against a reference reagent. The results were then standardised in the form of a correct prothrombin ratio. It was found that comparable results could be obtained, even with poorly sensitive thromboplastins, by determining a thromboplastin sensitivity index and using it to convert the prothrombin ratio obtained with each thromboplastin into a "correct" ratio, i.e. one that allowed for the depressed sensitivity of the thromboplastin concerned. It was found that thrombotest was more sensitive than the commercial thromboplastins; it was also superior to the reference reagent in expressing the level of drug-induced hypocoagulability. Attention is drawn to the soundness of expressing prothrombin times in terms of the correct ratio to cut out the effect of variations in sensitivity on the part of commercial thromboplastins. At the same time, stress is laid on the superiority of thrombotest in the monitoring of oral anticoagulant therapy.

Acenocoumarol