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Biomedical subjects

A Giunta

Publications and source records attributed to A Giunta.

At least 37 records · Page 2Linked to original sources
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↗
PubMed1990

Effects of taurine and ursodeoxycholic acid on liver function tests in patients with cystic fibrosis.

In 9 CF patients with clinical and biochemical evidence of liver disease, taurine (30 mg/kg/day) was administered one month before and during the successive treatment with ursodeoxycholic acid (10-15 mg/kg/day). Standard liver function tests were determined before and after each period of treatment. Taurine administration produced only inconsistent changes of liver function tests from baseline, whereas after the addition of ursodeoxycholic acid a substantial improvement in all abnormal indices was observed. The effects of longer period of treatment are currently investigated, with purpose of establishing their clinical impact and their relationship with changes in bile acid metabolism.

Bile Acids and Salts↗
PubMed1990

Survival in cystic fibrosis: preliminary report from an Italian multicenter study.

An Italian multicenter study has been carried out in order to obtain data on survival and prognostic factors in CF. We report data from four CF Centers: Milan, Neaples, Cagliari, Rome, Anagraphic data, mode of presentation and of diagnosis were collected, using CFDB database, from 536 CF pts. 39 pts had meconium ileus (7.3%); 269 (50%) were diagnosed before 12 months of age. 27 pts were lost to follow-up (5%); and 65 pts died (12%). Statistical analysis was performed by Kaplan-Meier survival curves compared by Logrank test.

Adolescent↗
PubMed1990

Nasal polyposis in cystic fibrosis treated by beclomethasone dipropionate.

Nasal polyposis appears frequently in C. F. patients. Our study intends to evaluate the efficacy of topical beclomethasone dipropionate (BMD) when administered in a position designed to increase exposure of nasal and paranasal sinuses mucosa to the drug. 14 patients were analysed: the size of the polyps was assessed by rhinoscopy and rhinomanometry at the beginning and at the end of the therapy. Our findings show that nasal polyps can be successfully treated medically in a significant number of C. F. patients.

Administration, Intranasal↗
PubMed1989

[Mitomycin C in the topical treatment of superficial neoplasms of the bladder].

From January 1982 to October 1987, 100 patients with multifocal superficial bladder cancer received intravesical MMC at the Institute of Urology, University of Padova. Seventy-three patients had papillary multifocal superficial bladder carcinoma (stages Ta-T1): treatment was divided into therapeutic (18 cases), and prophylactic (55 cases). 27 patients had carcinoma in situ. 39 patients affected by neoplasia relapsed to previous intravesical ADM treatment. All patients received 40 mg. intravesical MMC weekly for 8 consecutive weeks, repeating the cycle in cases of relapse. Complete response rates at 12 months was 53%, 50 to 67% for each group, respectively. Recurrence rate was lower compared to that before treatment; progression rate was also lower compared to a group who received only endoscopic treatment. In patients who relapsed with ADM treatment, the percentage of complete response was 69%. We underscore the efficacy of MMC in lowering relapse and progression in multifocal superficial bladder cancer, which represents the best indication for this kind of treatment.

Administration, Intravesical↗
PubMed1989

Echo-Doppler evaluation of diastolic filling in differently induced left ventricular hypertrophy.

The study was performed in order to assess whether left ventricular hypertrophy (LVH) (exercise or pressure-overload induced but of a similar extent) may differently affect LV diastolic function. The authors compared LV filling echo-Doppler indexes of 16 male trained rowers (mean left ventricular mass index (LVMI) = 162 +/- 18 g/m2) with those of 34 male patients with secondary LVH, subdivided into two groups according to the extent of LVH (group I, n = 20, with a mean LVMI = 159 + 20 g/m2, and group II, n = 14, with a mean LVMI = 221 +/- 23 g/m2). No abnormalities of LV diastolic filling were observed in the athletes; while in patients with secondary LVH of group I an impairment of the echo-Doppler indexes was detected. A more severe involvement of the diastolic properties was observed in patients with LVH of group II.

Adolescent↗
PubMed1988

Doppler echocardiographic assessment of left ventricular diastolic function in patients with primary lung cancer treated with doxorubicin.

Eighteen patients were examined by Doppler echocardiography before and after treatment with doxorubicin (DXR). Early left ventricular filling rate decreased from 66 +/- 15 to 51 +/- 10 cm/sec whereas late filling rate increased from 48 +/- 12 to 61 +/- 9 cm/sec (p less than 0.05) with inversion of the E/A ratio suggesting an impairment of left ventricular diastolic function; conversely no significant changes were found in systolic function indexes. These results suggest that follow-up of patients treated with DXR must include left ventricular diastolic function studies. Doppler echocardiography can be successfully used to detect the presence of diastolic abnormalities.

Adult↗
PubMed1988

The management of enzymatic therapy in cystic fibrosis patients by an individualized approach.

We evaluated nutritional status, pulmonary impairment, nutritional intake, and fat absorption in 73 cystic fibrosis (CF) patients to identify the primary factor(s) influencing growth. In general, the growth pattern in our patients was satisfactory since 60/73 were not underweight. When caloric intake is greater than or equal to 95% of RDA, wasting does not occur regardless of the degree of malabsorption, dietary fat content, or lung involvement. In the group of patients who consume less than the RDA, underweight is related to the severity of pulmonary disease; indeed, 11/13 underweight patients have a chest x-ray score over 15. Steatorrhea is well controlled in most patients; only 11 of 73 show a fat excretion greater than 25% of fat intake. The daily number of capsules of Pancrease varies from 4 to 57. The amount of Pancrease to be given was individualized to meet each patient's requirements using fat balance studies to determine the necessary daily Pancrease dose, then distributing the total dose in proportion to the fat content of each meal.

Adolescent↗
PubMed1988

Noninvasive assessment of systolic and diastolic function in 50 patients with Friedreich's ataxia.

Fifty consecutive patients with Friedreich's ataxia were examined to characterize their cardiac diastolic function. Electrocardiographic abnormalities were detected in 42 (80%) of the 50 patients. Echocardiography showed left ventricular hypertrophy in 14 patients (28%): concentric in 12 and asymmetric in 2. Left ventricular percent fractional shortening was normal in all except 2 patients. Diastolic filling characteristics measured from Doppler mitral flow velocity traces were not statistically different from those of 18 healthy control subjects. No abnormal diastolic flow pattern was observed in patients with left ventricular hypertrophy, whether concentric or asymmetric.

Adolescent↗
PubMed1988

Effect of taurine supplementation on fat and bile acid absorption in patients with cystic fibrosis.

Eleven children with cystic fibrosis (CF) and pancreatic insufficiency were given supplementation with taurine (30-40 mg/kg/day) for 2 months, while taking their usual dosage of enzymatic therapy. One patient dropped out of the study because she developed severe constipation. In the other 10 patients, urinary taurine excretion (88 +/- 30.1 mg/m2s.a./24 h) was similar to that of controls (86.2 +/- 6 mg/m2s.a./24 h) before taurine and increased markedly after supplementation (618.2 +/- 79.97 mg/m2s.a./24 h), indicating efficient intestinal absorption. Their coefficient of fat absorption was 81.2 +/- 2.3% and increased significantly after taurine (91.3 +/- 1.13%; p less than 0.01); the area under the curve of plasma triglyceride postprandial levels (1 +/- 0.1 mg X min/ml) also increased significantly after taurine (1.4 +/- 0.3 mg X min/ml; p less than 0.05), showing values very similar to those of controls. Conversely, no change was observed in the serum postprandial levels of glycocholic acid: the maximum postprandial peak before (1.2 +/- 0.3 mumol/l) and after taurine (1 +/- 0.1 mumol/l) remained significantly lower than in controls (2.4 +/- 0.3 mumol/l); p less than 0.01 and p less than 0.001, respectively. Mean total fecal bile acid (BA) excretion was 10.24 +/- 2.15 mg/kg/day before taurine and 12.8 +/- 4.27 mg/kg/day after taurine (normal pediatric values, 2.91 +/- 1.1 mg/kg/day); however, in the individual patients we found a variable trend, four of them showing a net increase in fecal BA excretion.(ABSTRACT TRUNCATED AT 250 WORDS)

Bile Acids and Salts↗
PubMed1987

Ceftazidime monotherapy vs. combined therapy in Pseudomonas pulmonary infections in cystic fibrosis.

To evaluate whether the addition of an aminoglycoside might enhance the clinical efficacy of ceftazidime in cystic fibrosis patients with acute exacerbations of chronic Pseudomonas lung infections we carried out a prospective, comparative, randomized blind study with three schedules: ceftazidime vs. ceftazidime plus sisomicin (C/S) vs. piperacillin plus sisomicin, for a total of 60 courses of 14 days of treatment. Each treatment led to clinical and radiologic improvement with marked reduction of signs of acute infection. Statistically there was no significant difference in clinical responses among the schedules. No side effect appeared during treatments with ceftazidime or C/S. Hyperpyrexia was seen in 35% of patients receiving piperacillin. Decrease in Pseudomonas aeruginosa count to less than 10(5) colony-forming units/ml of sputum was achieved in 60% of patients treated with C/S and in 30% of patients who received ceftazidime or piperacillin plus sisomicin (statistically not significant). A transient increase in mean geometric minimal inhibitory concentrations for ceftazidime and piperacillin was observed at the end of the combined therapies. A larger percentage of persistent resistant strains of P. aeruginosa was seen after the combined therapies. We conclude that ceftazidime as monotherapy may be an effective alternative in Pseudomonas lung infections in cystic fibrosis patients. Its clinical efficacy seems not to be enhanced by the addition of an aminoglycoside, although reduction of Pseudomonas in the sputum was better achieved by the combination of C/S.

Adolescent↗
PubMed1986

Long-term follow-up of dermatitis herpetiformis in children.

Dermatitis herpetiformis was diagnosed in seventy-six children by its clinical features and by detection of granular IgA deposits in the papillary dermis of perilesional skin. Enteric alterations demonstrated by measurement of D-xylose absorption and by small intestinal biopsies were detected in over 90% of all patients. A complete follow-up was obtained for all children who were followed for 3 to 10 years. Treatment with a gluten-free diet alone led to a reversal of the intestinal abnormality in 100% of our children and to the disappearance of cutaneous lesions in 82% of reported cases. This suggests that a complete remission of symptoms can be obtained with a gluten-free diet alone. Dapsone alone is effective therapy for the rash but does not affect the intestinal alterations. Furthermore, the lack of side effects to dietetic therapy for a long period of time makes the diet the treatment of choice in this disease.

Child↗