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Biomedical subjects

A Giunta

Publications and source records attributed to A Giunta.

At least 19 recordsLinked to original sources
PubMed1995

Effects of intravenous digoxin on pulmonary venous and transmitral flows in patients with chronic heart failure of different degrees.

Acute effects of digoxin on diastole were evaluated noninvasively by combining data simultaneously obtained by Doppler echocardiograms (echo-Doppler) of transmitral and pulmonary venous flow curves in 38 patients with dilated and failing hearts, who had been stable for at least 7 days before the study. According to the resting ejection fraction (EF), patients were subdivided into Group 1 (EF < 30%: n = 20, mean EF values 23 +/- 8%) and Group 2 (EF > or = 30%: n = 18, mean EF values 40 +/- 3%). Significant differences were observed at rest between the two groups in both transmitral (shorter deceleration time and isovolumic relaxation time and increased peak E and E/A ratio in Group 1 vs. Group 2) and transpulmonary (reduced systolic forward component and systolic fraction of the flow curves in Group 1 compared with Group 2 and control subjects) parameters. Digoxin (1 mg subdivided into two doses, each infused over a 15-min period with 2 h between the doses) significantly modified the diastolic profile in Group 1 patients in the absence of statistically relevant changes in EF: a significant decrease of transmitral peak E (from 76 +/- 17 to 60 +/- 15 cm/s, p < 0.05) and E/A ratio (from 2.5 +/- 1 to 1.6 +/- 0.6; p < 0.05) and a significant lengthening of deceleration time (from 115 +/- 20 to 160 +/- 18 ms; p < 0.05) were detected.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1995

Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population.

Three intragenic microsatellites of the CFTR gene, a TA and a CA repeats, namely IVS17bTA and IVS17bCA, located in intron 17b and a CA repeat (IVS8CA) located in intron 8 of the CFTR gene, were analyzed in a large sample of Italian cystic fibrosis (CF) and normal chromosomes. Linkage disequilibrium was evaluated between each marker and difference CF mutations on a total of 377 CF and 358 normal chromosomes. Our results are consistent with the hypothesis that all delta F508 chromosomes derive from a single mutational event. The same hypothesis is valid for mutations G542X, N1303K, 1717-1G-->A, which might have been originated more recently than delta F508.

Cystic Fibrosis↗
PubMed1995

Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations.

A cohort of 31 cystic fibrosis patients showing pancreatic sufficiency and bearing an unidentified mutation on at least one chromosome was analyzed through denaturing gradient gel electrophoresis of the whole coding region of the cystic fibrosis transmembrane conductance regulator gene, including intron-exon boundaries. Three new and 19 previously described mutations were detected. The combination of these with known mutations detected by other methods, allowed the characterization of mutations on 56/62 (90.3%) chromosomes. Among those identified, 17 can be considered responsible for pancreatic sufficiency, since they were found in patients carrying a severe mutation on the other chromosome. Among these presumed mild mutations, eight were detected more than once, R352Q being the most frequent in this sample (4.83%). Intragenic microsatellite analysis revealed that the six chromosomes still bearing unidentified mutations are associated with five different haplotypes. This may indicate that these chromosomes bear different mutations, rarely occurring among cystic fibrosis patients, further underlying the molecular heterogeneity of the genetic defects present in patients having pancreatic sufficiency.

Adolescent↗
PubMed1994

Analysis of risk factors for the development of liver disease associated with cystic fibrosis.

We prospectively screened for liver disease patients with cystic fibrosis who were more than 3 years of age and who were followed at the cystic fibrosis center of the University of Milan. From January 1991 to December 1992, we screened 189 patients; clinical, biochemical, and echographic abnormalities suggestive of overt liver disease were present in 34 (18%). To define risk factors for the development of liver disease associated with cystic fibrosis, we evaluated the possible role of specific mutations of the CFTR (cystic fibrosis transmembrane regulator) gene and of different clinical and demographic characteristics (sex, pancreatic status, meconium ileus or its equivalent) through a comparison of patients with cystic fibrosis and overt liver disease (n = 34) and those without liver disease (n = 155). Genetic analysis failed to reveal any significant difference in the allele frequencies of defined (delta F508, 1717-1G-A, G542X, N1303K, W1282X, R553X) and undefined mutations of the CFTR gene in the two groups of patients; genotype frequencies were also not significantly different. Pancreatic insufficiency was present in all patients with liver disease and in 87.3% of those without liver disease. A male predominance was found in the group with liver disease. The frequency of meconium ileus or its equivalent was significantly higher in patients with cystic fibrosis and liver disease (35.3%) than in patients without liver disease (12.3%) (p = 0.0025). In the 31 patients with a history of meconium ileus or its equivalent, the following hepatic abnormalities occurred more frequently than in the 155 patients with cystic fibrosis who did not have meconium ileus: hepatomegaly, biochemical abnormalities, heterogeneous echographic pattern of the liver, and microgallbladder. Twenty-four patients with a history of meconium ileus or its equivalent underwent hepatobiliary scintigraphy (with technetium-labeled iminodiacetic acid derivatives), which showed morphologic abnormalities suggestive of impaired biliary drainage in 21 patients and abnormalities in function in 11. The risk of acquiring liver disease was increased almost fourfold in patients with a history of meconium ileus or its equivalent, in comparison with patients who had cystic fibrosis but were unaffected by these complications (odds ratio, 3.9043; 95% confidence interval, 1.666 to 9.149). We conclude that patients with cystic fibrosis and meconium ileus or its equivalent may benefit from prophylactic treatment with ursodeoxycholic acid; genetic analysis of the major mutations present in this population failed to provide evidence of the existence of a specific genetic marker for the development of liver disease in patients with cystic fibrosis.

Adolescent↗
PubMed1994

Stage A1 prostate cancer: follow-up with digital rectal exploration, prostate markers, fine-needle aspiration, ultrasonographically guided needle biopsy and biopsies of the residual prostate with resectoscope.

From January 1985 to December 1990, we performed 921 TURP and 23 retropubic adenomectomies. In 70 patients (7.4%) histological examination revealed an incidental carcinoma of the prostate (stage A), 51 of which (72.8%) were A1 and 19 (27.2%) stage A2. In our classification A1 covers cases with < 3 G1 focal lesions [Boxer, 1977]. Thirteen of the A2 cases underwent radical prostatectomy: 1 pT1G1-2, 9 pT2G1-2, 3 pT3G2 (TNM 1978); the remaining 6 were given palliative treatment. The 51 stage A1 patients were recalled for follow-up evaluation, only 20 came for checking. They were reassessed by means of DRE, markers, prostate cytologic aspiration, echo-guided transperineal needle biopsy and resection of the prostatic cavity. Our experience seems to suggest that, if we define A1 as < 3 G1 chips or less, this stage is to be considered an incidental illness that seems not to require further treatment, but only a policy of surveillance with yearly markers, DRE and echo-guided needle biopsy.

Aged↗
PubMed1993

Effects of flecainide and propafenone on systolic performance in subjects with normal cardiac function.

Flecainide and propafenone are effective in suppressing both ventricular and supraventricular tachyarrhythmias, but their efficacy is often limited by dose-related side effects. This study was performed to evaluate noninvasively the effects of intravenous flecainide and propafenone on left ventricular systolic function indices in a selected population of 40 subjects (28 men and 12 women; mean age, 25 years) with normal cardiac structure and performance. Echocardiographic indexes of global systolic pump function (ejection fraction [EF] and percentage of fractional shortening [percent FS]) as well as monodimensional parameters of the intraventricular septum (IVS) and left ventricular posterior wall (PW) contractility (percent systolic thickening [percent th] and systolic excursion [ex]) were assessed in all subjects at baseline, immediately after, and in the early recovery (15 min) after randomized injection of either flecainide or propafenone. Heart rate and blood pressure did not significantly change after both drugs. A significant increase (p < 0.001) in left ventricular systolic internal diameter was observed after both flecainide and propafenone; simultaneously a significant decrease of percent FS (p < 0.001), EF (p < 0.001), PW percent thickening (th) (p < 0.001), and PWex (p < 0.001 after flecainide and p < 0.01 after propafenone) was recorded. These changes were comparable and promptly reversible. In analyzing individual data, a marked systolic dysfunction was observed in two patients after intravenous flecainide (percent FS from 37 percent to 17 percent and from 42 percent to 13 percent; EF from 55 percent to 40 percent and from 65 percent to 35 percent, respectively) and in one patient after intravenous propafenone (percent FS from 30 percent to 15 percent; EF from 58 percent to 35 percent). We conclude that both intravenous flecainide and propafenone exhibit mild negative inotropic effects leading to a moderate and reversible reduction of left ventricular systolic performance; however, in some cases, a dramatic impairment of systolic pump function may occur, suggesting careful use of both drugs as first-line agents also in normal subjects; finally, the true incidence of this deleterious effect is still unknown.

Adolescent↗
PubMed1992

Scintigraphic documentation of an improvement in hepatobiliary excretory function after treatment with ursodeoxycholic acid in patients with cystic fibrosis and associated liver disease.

We have previously documented that ursodeoxycholic acid exerts a beneficial effect on liver function and bile acid metabolism in patients with cystic fibrosis. We hypothesized that the mechanism of action may be related in part to the choleretic properties of the administered bile acid. We therefore compared hepatobiliary scintigraphic images obtained before and 1 yr after initiation of ursodeoxycholic acid therapy to document an improvement in bile flow in 13 patients with cystic fibrosis and hepatobiliary involvement. Before therapy, hepatobiliary scintigraphy documented biliary stasis with retention of the isotope in intrahepatic and extrahepatic bile ducts in nine patients; during therapy, duct dilatation decreased substantially in eight patients, with decreased intrahepatic retention and more rapid biliary outflow of the tracer. The time of appearance of isotope in the intestine decreased (from a mean of 36.9 +/- 17.8 min to 18.8 +/- 9.0 min; p less than 0.01) in all patients in whom it had been abnormal, and the half-time of hepatic washout decreased from a mean of 35 +/- 20.7 min to 26 +/- 15.6 min (p less than 0.05). During ursodeoxycholic acid administration enrichment of bile was achieved, with the mean ursodeoxycholic acid percent composition increasing from 5.8% +/- 2.9% to 35.7% +/- 8.5%. Ursodeoxycholic acid became the predominant bile acid in serum. Liver function improved in all 10 of the patients with abnormal values at baseline. We conclude that hepatobiliary scintigraphy is of value in monitoring the therapeutic responses of cystic fibrosis patients with liver disease to ursodeoxycholic acid therapy.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1992

Ursodeoxycholic acid therapy in cystic fibrosis-associated liver disease: a dose-response study.

Previous studies from our groups have demonstrated improvements in biochemical markers of liver function when cystic fibrosis patients with associated liver disease were administered oral ursodeoxycholic acid. The magnitude of the response was somewhat less than that found when comparable doses (10 to 15 mg/kg body wt/day) of ursodeoxycholic acid are given to other liver disease patients; this may be explained by the bile acid malabsorption that is characteristic of the disease. For this reason a dose-response study was carried out in nine cystic fibrosis patients with liver disease to establish whether improved efficacy could be obtained with higher doses. Ursodeoxycholic acid in doses of 5, 10 and 15 mg/kg body wt/day was given orally for consecutive 2-mo periods in a replicated Latin-square design. After this, all patients received 20 mg/kg body wt/day. Liver function, individual serum bile acids and biliary bile acid composition were determined at entry and at the end of each treatment period. Our data demonstrate that the magnitude of the biochemical improvement in serum liver enzymes was significantly greater with higher doses of ursodeoxycholic acid; at 20 mg/kg body wt/day it was similar to that reported for patients with other liver diseases administered lower doses. Biliary ursodeoxycholic acid enrichment increased with increasing doses, attaining 42% +/- 6% of the total biliary bile acids with the highest dose. Fasting serum ursodeoxycholic acid concentrations increased during ursodeoxycholic acid administration but were variable and correlated poorly with the dose of ursodeoxycholic acid administered, whereas no correlation was found between serum ursodeoxycholic acid concentration and the proportion of ursodeoxycholic acid in bile.(ABSTRACT TRUNCATED AT 250 WORDS)

Bile Acids and Salts↗
PubMed1992

Treatment of hydrocele: randomised prospective study of simple aspiration and sclerotherapy with tetracycline.

Following reports in the literature on the efficacy of tetracycline sclerotherapy in the treatment of hydroceles, we carried out a randomised prospective study of 45 patients (50 hydroceles), comparing simple evacuation with tetracycline sclerotherapy. The results revealed no statistically significant difference in the percentage of success between the 2 groups, but complications were more common in the patients treated with tetracycline. The good results reported by other authors in non-randomised studies are, therefore, not confirmed.

Adolescent↗
PubMed1992

Left ventricular diastolic function with epirubicin therapy: an echodoppler study.

Thirty patients undergoing epirubicin therapy for primary lung cancer were studied by echocardiography and Doppler echocardiography. 2 D ejection fraction (EF) and Doppler left ventricular filling parameters (peak E, peak A, E/A ratio) were calculated before and after the completion of therapy. No differences in the mean values of these parameters were observed. However, 6 out of 30 patients (20%) showed left ventricular filling abnormalities; in 2 of them a slight reduction of EF was also noted. These abnormalities seem to be dose related. A longer term prospective study will be required to evaluate whether these findings are irreversible and to establish the clinical implications of our observations.

Adult↗
PubMed1991

Evaluation of cardiac structures and function in systemic sclerosis by Doppler echocardiography.

Ventricular diastolic filling was investigated in a series of 51 consecutive patients with systemic sclerosis by means of Doppler echocardiography. Peak flow velocity in early (peak E) and late (peak A) diastole, E/A ratio, slope of the early diastolic flow velocity and isovolumic relaxation period were calculated. Nine out of the 51 patients showed abnormalities of ventricular filling dynamics in the absence of left ventricular systolic dysfunction at rest and after provocation. The abnormal diastolic filling pattern in these patients was detected in spite of the absence of systemic hypertension, left ventricular hypertrophy or other clinically evident myocardial disease. These diastolic abnormalities might represent an isolated evidence of the underlying myocardial fibrosis not yet clinically apparent.

Adult↗
PubMed1991

Nomogram for penile biothesiometry.

Three hundred and fifty men, aged between 17 and 80 years, with normal sexual anamnesis and without any neurological pathology, underwent finger (index) and penile biothesiometry using a biothesiometer. Tabular and graphical nomograms were obtained according to age and instrumental values. The use of the above-mentioned nomograms is an effective aid in detecting each individual case.

Adolescent↗
PubMed1991

Sudden appearance of echocardiographic changes in a case of acute massive pulmonary embolism.

We report a case of a 68-years-old woman who developed during hospitalization a massive pulmonary embolism. Since the patient had undergone routine cardiac examination, comparison between the echo features immediately preceding and following the event allowed to detail the time interval required for the occurrence of the anatomical and functional changes of the heart chambers.

Acute Disease↗
PubMed1990

Frequency of the delta F508 mutation in a sample of 175 Italian cystic fibrosis patients.

A sample of 175 Italian cystic fibrosis patients has been analysed for the presence of the delta F508 mutation. The frequency of this mutation among 137 patients with pancreatic insufficiency is equal to 57%; in 23 patients with pancreatic sufficiency it is 26%. A high proportion of the unknown mutations is associated with the same rare haplotype found in association with delta F508, suggesting that at least another mutation occurred on a chromosome characterized by the same haplotype.

Chromosome Deletion↗
PubMed1990

Effects of ursodeoxycholic acid therapy for liver disease associated with cystic fibrosis.

The hydrophilic bile acid ursodeoxycholic acid (UDCA) has recently been shown to improve indexes of liver function in adult patients with various liver diseases. The clinical and biochemical responses to UDCA administration (10 to 15 mg/kg body weight per day) were therefore investigated in nine patients with cystic fibrosis and evidence of liver disease. All patients were receiving pancreatic enzymes and taurine supplementation. Liver function tests were done and serum bile acid concentrations and biliary bile acid composition were determined before and during UDCA therapy; fat balance studies and fecal bile acid excretion were carried out before and 6 months after UDCA treatment. After 2 months of bile acid therapy, biliary bile acid composition was enriched in UDCA from approximately 5% before treatment to 25%, at the expense of cholic and chenodeoxycholic acids, thus making the pool more hydrophilic. This enrichment is lower than that reported for adults with chronic liver diseases. Serum concentrations of UDCA increased significantly but variably. UDCA became the predominant fecal bile acid excreted (12% to 67%), indicating a variable absorption of the administered bile acid. Liver function improved in all patients after 2 to 6 months of therapy, although the degree of improvement (aspartate aminotransferase, -34%; alanine aminotransferase, -41%; gamma-glutamyltranspeptidase, -41% alkaline phosphatase, -19%) was lower than that observed in adults with chronic liver diseases. Mean coefficient of fat absorption and growth rate were, on average, unaffected by UDCA therapy, although an improvement was noted for three patients with greater severity of steatorrhea. The study indicates that UDCA can be used safely in this patient population but that higher doses of UDCA may be of greater benefit in the treatment of the liver disease associated with cystic fibrosis.

Adolescent↗
PubMed1990

[Cost-benefit relationship between endoscopic resection (TURP) and open surgery (Millen) in prostatic hypertrophy ].

Evaluation of the cost/benefit relationship between TURP (50 cases) and Millin (30 cases). The factors considered are as follows: average post-operative hospitalization, average catheterisation time, average operation time, cost of materials, number of operators employed, number of transfused blood units. The post-operative hospitalization relating to the two kinds of operation varies considerably with a difference of 5.15 days less for the TURP, while the average catheterisation time doesn't seem to be affected. Blood transfusion was necessary in the 43.3% (0.75 unit/patient) of cases for the Millin compared to the 14% (0.26 unit/patient) for the TURP. Evaluation of economical advantages between TURP and Millin shows a relationship of 1:2.3 in favour for of TURP.

Aged↗
PubMed1990

Prevention of cystic fibrosis in Italian families by DNA studies.

We performed a feasibility study of prenatal diagnosis in the Italian population by DNA analysis utilizing the probes: metD, metH, J3.11, KM.19 and XV-2c. With these probes, 118 out of 126 families (93.7%) were fully informative. We also tested part of the families with new additional tightly linked probes, E.9 and W3D1.4. With all the probes feasibility was complete in 44 out of 45 families (97.8%). In particular with a set of only 3 tightly linked probes, KM.19 + XV-2c + W3D1.4, 71% of the families were fully informative. We carried out 8 prenatal diagnoses, 4 of which with the polymerase chain reaction (PCR) for KM.19. These data show that these probes are highly informative and can be used for feasibility studies and prenatal diagnosis of CF in the Italian population.

Cystic Fibrosis↗