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Biomedical subjects

A Dello Russo

Publications and source records attributed to A Dello Russo.

At least 19 recordsLinked to original sources

Rate-control or rhythm-control: where do we stand?

Atrial fibrillation is the most common sustained rhythm disturbance and its prevalence is increasing worldwide due to the progressive aging of the population. Current guidelines clearly depict the gold standard management of acute symptomatic atrial fibrillation but the best-long term approach for first or recurrent atrial fibrillation is still debated with regard to quality of life, risk of new hospitalizations, and possible disabling complications, such as thromboembolic stroke, major bleeds and death. Some authors propose that regaining sinus rhythm in all cases, thus re-establishing a physiologic cardiac function not requiring a prolonged antithrombotic therapy, avoids the threat of intracranial or extracranial haemorrhages due to Vitamin K antagonists or aspirin. On the contrary, advocates of a rate control approach with an accurate antithrombotic prophylaxis propose that such a strategy may avoid the risk of cardiovascular and non cardiovascular side effects related to antiarrhythmic drugs. This review aims to explore the state of our knowledge in order to summarize evidences and issues that need to be furthermore clarified.

Journal Article↗

Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome.

Smith-Lemli-Opitz syndrome (SLOS) is an inborn error of cholesterol biosynthesis characterized by developmental delay and multiple malformations. Some of the patients have skin photosensitivity and therefore tend to avoid direct exposure to sunlight.SLOS patients typically have low concentrations of cholesterol and abnormally high concentrations of its precursor 7-dehydrocholesterol (7-DHC) in biological fluids and tissues. 7-DHC is also a precursor in the cutaneous synthesis of vitamin D. Sunlight exposure plays a major role in this pathway and reactions transforming 7-DHC into vitamin D and then into 25-hydroxyvitamin D are known not to be specifically regulated. The aim of this study was to evaluate vitamin D status in SLOS patients. We measured 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D serum concentrations and markers of calcium metabolism in five SLOS patients. Despite abnormally high concentrations of 7-DHC, circulating concentrations of vitamin D metabolites were not significantly different from appropriate controls matched for sex, age and season of blood collection. The analysis of historical serum samples stored in our laboratory from the same cases plus 10 other SLOS patients further supported these findings. Our data suggest that SLOS patients have a peculiar vitamin D metabolism that protects them from vitamin D intoxication. This appears to be due in most cases to decreased transformation of 7-DHC into 25-hydroxyvitamin D, perhaps depending on reduced sunlight exposure as a consequence of photosensitivity. Possible alternative mechanisms are discussed.

Adolescent↗

Prolonged asystolia in a young athlete: a case of sinus arrest during REM sleep.

A young asymptomatic male athlete came to our laboratory to be enrolled in a research protocol on physical fatigue. Routine clinical and cardiological evaluations including echocardiogram were in the normal range. Several consecutive cardiopulmonary tests showed a fairly good tolerance to exercise, with no symptoms even when the effort was abruptly arrested. On the other hand, Holter ECG recordings showed long nocturnal sinus pauses. As he was absolutely asymptomatic and free from any structural heart disease, he underwent a follow-up with repeated Holter monitorings for one year. During this period he decided on his own to stop practising sports; in spite of this sharp reduction in his overall physical activity, consecutive Holter monitorings showed that the sinus pauses were progressively increasing in duration (up to 9.2 seconds). With the hypothesis of a malignant vagotonia, he underwent a tilt test; however, we could not elicit any pauses or symptoms. The pauses grew longer over time; a endocavitary electrophysiologic test was performed, which showed no evidence of disease. To rule out the hypothesis of a sleep apnoea syndrome, he also underwent a polysomnography, including EEG, eye movement electromyography, arterial blood oxygen saturation and thoracic impedance: no alterations were detected with the exception of the sinus pauses, which appeared to be strictly linked to REM sleep, as suggested by the concurrent increase in rapid eye movements and desynchronized EEG. We hence made a diagnosis of sinus arrest during REM sleep (SAdRS), a very uncommon disease belonging to the parasomnias. Pauses were then quantified for one month by implanting a ECG loop recorder. As the patient became more and more upset and worried, and the pauses increased to nearly 12 seconds, we decided to implant a pacemaker, which is the only therapeutic option established in the literature for patients with SAdRS.

Adult↗

Impairment of cardiac autonomic function in patients with Duchenne muscular dystrophy: relationship to myocardial and respiratory function.

BACKGROUND: Previous studies reported an impairment of nervous autonomic activity in patients with Duchenne muscular dystrophy (DMD). However, the relationship of the autonomic dysfunction to the impairment of cardiac mechanical function and of respiratory failure is not completely understood. METHODS: We evaluated cardiac autonomic function by time- and frequency-domain heart rate variability (HRV) analysis on 24-hour Holter recordings in 60 patients with DMD (16.8 +/- 4.8 years) and 28 healthy control patients (15.2 +/- 4.6 years, P = not significant). The circadian rhythm of R-R interval, low frequency, high frequency, and low-frequency/high-frequency ratio was also assessed. In all patients, left ventricular ejection fraction was measured by 2D echocardiography; respiratory function was assessed by spirometry. RESULTS: All HRV parameters were lower in patients with DMD than in control subjects, with the percentage of differences between adjacent R-R intervals >50 ms (11.6% +/- 8.5% vs 27.3% +/- 14.1%, P =.00001) and high frequency (23.9 +/- 10.3 ms vs 36.1 +/- 12.2 ms, P =.0001) showing the strongest differences. A significant circadian rhythm of HRV variables was present in both groups, but it was considerably flattened in patients with DMD. There was no correlation between left ventricular ejection fraction and HRV indexes except for a weak correlation with high frequency (r = 0.30, P =.02) and with low-frequency to high-frequency ratio (r = -0.29, P <.03). Similarly modest correlations were found between forced vital capacity and high frequency (r = 0.4, P =.007) and low-frequency/high-frequency ratio (r = -0.32, P =.026). Multiple regression analysis did not show any independent predictive variable for the autonomic impairment. CONCLUSIONS: Our data show a marked impairment of cardiac autonomic function in patients with DMD, which appears to mainly involve the parasympathetic branch and appears to have a multifactorial origin.

Adolescent↗

Clinical, electrocardiographic and electrophysiological predictors of atrial fibrillation development in different cardiac substrates.

We performed a review of the current literature in order to evaluate clinical, electrocardiographic and electrophysiologic parameters predictive of atrial fibrillation development. Clinical parameters were obtained from two large observational studies (the Framingham heart study and the Cardiovascular health study). Different laboratoristic predictors were also reviewed: ECG-derived predictors, among which we separately evaluated those derived from the 12-lead surface ECG and those derived from the signal averaged P-wave, and other electrophysiologic predictors as atrial monophasic action potential analysis. We also evaluated the clinical value of these different parameters in atrial fibrillation in patients with no overt structural heart disease and in the most common clinical conditions known to be related to atrial fibrillation development such as hypertension, heart failure, cardiovascular surgery.

Atrial Fibrillation↗

Olive oil and reduced need for antihypertensive medications.

BACKGROUND: The blood pressure (BP) effects of changing the total fat intake and saturated-unsaturated fat ratio are still controversial, despite evidence that saturated fat-enriched diets are associated with higher BP levels. This double-blind, randomized crossover study evaluated a possible difference between antihypertensive effects of monounsaturated (MUFA) (extra-virgin olive oil) and polyunsaturated fatty acids (PUFA) (sunflower oil). METHODS: Twenty-three hypertensive patients were assigned randomly to MUFA or PUFA diet for 6 months and then crossed over to the other diet; effects were evaluated on the basis of daily antihypertensives needed. RESULTS: Diets high in MUFA and PUFA differed from the habitual diet for reduced total and saturated fats, whereas they differed from each other for MUFA (17.2% vs 10.5%) and PUFA content (3.8% vs 10.5%). Resting BP was significantly lower (P = .05 for systolic BP; P = .01 for diastolic BP) at the end of the MUFA diet compared with the PUFA diet. Blood pressure responses during sympathetic stimulation with the cold pressor test and isometric exercise were similar. Daily drug dosage was significantly reduced during the MUFA but not the PUFA diet (-48% vs - 4%, P<.005). All patients receiving the PUFA diet required antihypertensive treatment, whereas 8 of those receiving the MUFA diet needed no drug therapy. CONCLUSIONS: A slight reduction in saturated fat intake, along with the use of extra-virgin olive oil, markedly lowers daily antihypertensive dosage requirement, possibly through enhanced nitric oxide levels stimulated by polyphenols.

Adult↗

In vitro exposure of acute promyelocytic leukemia cells to arsenic trioxide (As2O3) induces the solitary expression of CD66c (NCA-50/90), a member of the CEA family.

Arsenic trioxide (As2O3) is a useful drug for the treatment of acute promyelocytic leukemia (APL), acting through a complex mechanism involving the induction of apoptosis. We investigated by flow cytometry whether in vitro treatment of APL leukemic cells with As2O3 determined specific surface membrane changes. Twelve APL bone marrow aspirates were analyzed following 7 days of in vitro treatment with As2O3 (0.25, 0.5 and 2.5 microM) with regard to the expression of a series of differentiation antigens. Twelve acute myeloid leukemia (AML) samples of non-APL morphotype were analyzed as controls. Exposure of APL as well as non-APL samples to any concentration of As2O3 did not affect the expression of beta2 integrins (CD11a and CD11b), CD45 isoforms (RA, RB and R0), CD44/H-CAM, CD33 and the CEA-related antigen family members CD66ade and CD66b, thus failing to disclose any maturating effect. Of interest, in all APL samples (but not in AML) every tested dose of As2O3 determined a dramatic upregulation of CD66c display; intermediate concentration (0.5 microM) of As2O3 increased the median percentage of CD66c+ cells from 5% in control cultures (25th-75th percentile 2-12%) to 80% in drug-exposed cultures (25th-75th percentile 58-90%) (P<0.001). The induction of solitary expression of CD66c is a new finding which demonstrates As2O3 capability of generating phenotypic changes absolutely restricted to APL cells Moreover, these results provide experimental basis for considering the involvement of the newly described CD66 signalling pathway in As2O3-driven programmed cell death.

Antigens, CD↗

Complete remission in acute myeloid leukaemia with t(8;21) following treatment with G-CSF: flow cytometric analysis of in vivo and in vitro effects on cell maturation.

A 75-year-old patient diagnosed as having acute myeloid leukaemia with t(8;21) received G-CSF alone as induction therapy. Complete remission was achieved following 2 weeks of treatment. Flow cytometric analysis, performed by CD45 technique modified by the introduction of preliminary gating with LDS-751, confirmed the disappearance of blast cells along with myeloid maturation. Finally, in vitro studies demonstrated that G-CSF, as compared to other differentiation inducers, was able to induce a striking effect toward neutrophilic differentiation.

Acute Disease↗

Iron superoxide dismutase from the archaeon Sulfolobus solfataricus: average hydrophobicity and amino acid weight are involved in the adaptation of proteins to extreme environments.

The iron-superoxide dismutase in the thermoacidophilic archaeon Sulfolobus solfataricus has a homodimeric structure with a metal content of 0.7 atom of iron per subunit. The enzyme is insensitive to cyanide inhibition, sensitive to inactivation by H2O2 and is the most heat resistant SOD known so far being its half-life 2 h at 100 degrees C. Its primary structure was determined by a profitable combination of advanced mass spectrometry and automated sequence analysis of peptides obtained after cleavage of the purified protein. The enzyme subunit is composed of 210 amino acid residues accounting for a relative molecular mass of 24,112. It does not contain cysteine residues and has a high average of both hydrophobicity and amino acid weight. Vice versa, the hydrophobicity is lower in halophilic SODs. Therefore, it seems that the average hydrophobicity is involved in the adaptation of proteins to extreme environments. The multiple alignment of the primary structure of archaeal and thermophilic eubacterial SODs indicated that archaeal SODs evolved separately from the thermophilic eubacterial SODs and that halophiles originated from a gene different from that of thermophilic archaea.

Amino Acid Sequence↗

Brief report: healed myocarditis as a cause of ventricular repolarization abnormalities in athlete's heart.

In the past myocarditis has been suggested as a possible cause of repolarization abnormalities in sportsmen, but, to our knowledge, no direct in-vivo demonstration of this relationship has so far been found. We report the cases of three professional athletes with repolarization changes at rest and/or during exercise and mild segmental wall motion anomalies in the left ventricle on echocardiography, in whom myocarditis was diagnosed by non-invasive and invasive clinical investigations, including endomyocardial biopsy. We think that probably the frequency with which myocarditis is responsible for electrocardiographic and echocardiographic abnormalities in athletes has so far been underestimated, and that caution must be employed when interpreting minor segmental wall motion abnormalities on resting and exercise echocardiograms in trained subjects as being due to athlete's hart, especially when they present with repolarization changes.

Adult↗

Purification and characterization of NADH oxidase from the archaea Sulfolobus acidocaldarius and Sulfolobus solfataricus.

The enzyme NADH oxidase (EC 1.6.99.3) has been isolated from the two thermoacidophilic archaea Sulfolobus acidocaldarius and Sulfolobus solfataricus and characterized. In both organisms the enzyme oxidizes specifically beta-NADH in the presence of molecular oxygen and requires the presence of a flavin cofactor, showing a high specificity for FAD. A stoicheiometric amount of hydrogen peroxide to NADH is formed as the end product of the reaction, indicating that both enzymes are two-electron donors. The purified enzymes exhibit quite different molecular properties. S. acidocaldarius NADH oxidase is a monomeric protein with an estimated molecular mass of about 27 kDa, whereas S. solfataricus NADH oxidase is a dimeric protein with a molecular mass of 35 kDa per subunit; S. solfataricus NADH oxidase is purified as an FAD-containing protein, whereas S. acidocaldarius NADH oxidase does not contain a flavin molecule. Furthermore, a comparison of the N-terminal amino acid sequence shows no similarities either between the two proteins or to any other NADH oxidases. Both enzymes are essentially thermophilic. In the temperature range 20-80 degrees C, the energy of activation is almost the same for both activities, suggesting that similar energetic parameters are required. Also both oxidases display a great stability to heat. The half-life of heat inactivation is about 180 min at 90 degrees C for S. acidocaldarius NADH oxidase and 77 min at 98 degrees C for the S. solfataricus enzyme. The activity of the two enzymes is inhibited by urea and guanidine and are regulated very differently by several organic solvents.

Amino Acid Sequence↗

Echocardiographic size of conductance vessels in athletes and sedentary people.

The purpose of the present study was to assess the size of great and medium caliber arterial and venous vessels (conductance vessels) in athletes of different sports and sedentary people. Vessel size was measured by two-dimensional echocardiography in 15 professional cyclists, 15 highly-trained long-distance runners, 15 professional volley-ball players, 10 wheelchair basketball players, 11 wheelchair distance runners and 20 sedentary controls. The following vessels were imaged and measured: aortic arch, left carotid and left subclavian artery, right pulmonary artery, abdominal aorta and mesenteric artery, superior and inferior vena cava. Vessel size was considered in absolute value and normalized for body surface area (BSA). Among the able-bodied athletes, both cyclists and long-distance runners showed a generalized increase in vessels size in respect to controls, either absolute or normalized for BSA. The increase was highly significant for normalized inferior vena cava: cyclists, mean 15.1 mm, 95% confidence intervals 14.2 to 15.8 mm; long-distance runners, 15.8 mm, 15.3 to 16.4; controls, 10.5 mm, 9.8 to 11.3. Volleyball players also showed larger vessels than controls, but this feature was clearly related to their greater body size because statistical differences were attenuated or abolished by normalization for BSA. Wheelchair athletes exhibited significantly larger upper-body vessels but significantly smaller lower-body vessels than controls when normalized for BSA. In addition, wheelchair distance runners, who trained more intensively, had larger abdominal aorta and inferior vena cava than wheelchair basket players. Long-term endurance training leads to a generalized increase in arterial and venous conductance vessels size.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗

The nucleotide sequence of the gene coding for the elongation factor 1 alpha in Sulfolobus solfataricus. Homology of the product with related proteins.

The cloning and sequencing of the gene coding for the archaebacterial elongation factor 1 alpha (aEF-1 alpha) was performed by screening a Sulfolobus solfataricus genomic library using a probe constructed from the eptapeptide KNMITGA that is conserved in all the EF-1 alpha/EF-Tu known so far. The isolated recombinant phage contained the part of the aEF-1 alpha gene from amino acids 1 to 171. The other part (amino acids 162-435) was obtained through the amplification of the S. solfataricus DNA by PCR. The codon usage by the aEF-1 alpha gene showed a preference for triplets ending in A and/or T. This behavior was almost identical to that of the S. acidocaldarius EF-1 alpha gene but differed greatly from that of EF-1 alpha/EF-Tu genes in other archaebacteria eukaryotes and eubacteria. The translated protein is made of 435 amino acid residues and contains sequence motifs for the binding of GTP, tRNA and ribosome. Alignments of aEF-1 alpha with several EF-1 alpha/EF-Tu revealed that aEF-1 alpha is more similar to its eukaryotic than to its eubacterial counterparts.

Amino Acid Sequence↗