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Biomedical subjects

G Mastella

Publications and source records attributed to G Mastella.

At least 37 records · Page 2Linked to original sources
PubMed1999

Evidence of mild respiratory disease in men with congenital absence of the vas deferens.

Cystic fibrosis (CF) is a severe disorder, whose main characteristics are, in addition to congenital absence of the vas deferens (CAVD), progressive lung disease, pancreatic insufficiency and elevated sweat chloride levels; CAVD without any other manifest clinical evidence is commonly suggested to be a form of CF with primarily genital expression. We undertook this study to test the hypothesis that men with a CAVD phenotype could be more CF-like than it is usually assumed. Each subject from a population of 42 patients suffering from CAVD was screened for a panel of 16 mutations plus the intron 8 5-thymidine allele of the CF gene (5T), and underwent a thorough clinical evaluation which included a detailed anamnesis, anthropometric data, chest and paranasal sinuses X-rays, pulmonary function tests, sputum cultures, stool chymotrypsin determination, sweat test and, in a limited number of patients, Nasal Potential Difference (NPD) measurement. The genotype analysis detected one compound heterozygote, 23 heterozygotes and 15 individuals carrying the 5T allele; sweat chloride was positive in six, borderline in 11 and negative in 25 subjects; NPD was abnormal in 2/12 patients. Medical history and clinical examination were consistent with respiratory disease in 20 cases; there was radiological evidence of pulmonary hyperinflation in 37/39 and of sinus disease in 20/42 patients; Staphylococcus aureus was cultivated in the sputum of 9/36, Haemophilus influentiae in 3/36 subjects and three patients showed functional evidence of airway obstruction. These findings were equally distributed among sweat positive, borderline and negative patients. These results raise questions about the supposed benignancy of the CAVD condition. A close follow-up of men with CAVD could ascertain potential complications.

Adult↗
PubMed1999

Shwachman's syndrome: pathomorphosis and long-term outcome.

BACKGROUND: Shwachman's syndrome is the second most common cause of inherited/congenital pancreatic insufficiency after cystic fibrosis. The main associated features are usually cyclic neutropenia, metaphyseal dysostosis, and growth retardation. Other organs or functions may be involved in this syndrome, showing a wide range of abnormalities and symptoms. There are reports of Shwachman's syndrome in childhood, but little is known about the long-term clinical course of these patients. This article reports on the pathomorphosis and long-term follow-up of 13 patients with Shwachman's syndrome diagnosed in infancy focusing, in particular, on modifications of the exocrine pancreatic function over time. METHODS: Exocrine pancreatic function was evaluated by duodenal intubation followed by a pancreatic stimulation test. Nutritional, biochemical, hematologic, radiologic, and psychological evaluations were performed at various intervals. Six patients were included in long-term follow-up evaluation. RESULTS: At diagnosis, growth retardation was present in all patients, and all subjects showed pancreatic insufficiency. Hematologic features (intermittent neutropenia, anemia and thrombocytopenia), respiratory infection during the first years of life, and skeletal abnormalities were also frequently observed. Other associated features at diagnosis included hepatic involvement and occasional renal dysfunction. In the six patients followed up, a significant growth improvement was observed. In five of them the pancreatic stimulation test showed values of lipase within reference range outputs, whereas fat balance or fecal fat losses were normal in all but one subject. Of seven subjects assessed by psychological evaluation, IQ test results were markedly abnormal in one and bordered on abnormality in the others. CONCLUSIONS: The present data on Shwachman's syndrome diagnosed in infancy underline the possibility of improvement or normalization of exocrine pancreatic function with age, suggesting the need for periodic checks on pancreatic activity in these subjects. It also indicates the possibility of diagnosis of this syndrome in the absence of pancreatic insufficiency; decreasing frequency of infections over time; and the usefulness of early neuropsychological evaluation.

Child, Preschool↗
PubMed1999

Carrier testing program in a high-risk cystic fibrosis population from northeastern Italy. Active recruitment of relatives via probands' parents.

OBJECTIVE: To assess the practicability and monitor the results of an active carrier testing program among relatives of cystic fibrosis (CF) patients. METHODS: Parents of CF patients in the Veneto and Trentino regions of northeastern Italy were asked to help recruit relatives aged between 18 and 45 years for CF mutation testing. RESULTS: Of 409 enrolled CF parents, 59.6% agreed to send to the CF Center family composition data of relatives up to the third degree, and 28.8% recruited relatives to carrier testing, providing names and addresses of those who, being contacted, expressed a willingness to be tested. The participation of parents was higher if they were young and had a child recently diagnosed with CF. Recruiting parents indicated 333 close relatives (59%) for testing. When contacted by the CF Center, 170 of these 333 (51%) attended for testing. The percentage of close relatives who spontaneously asked for the test was 5.4% before the carrier testing program started; it rose to 25.3% following the introduction of the active strategy. CONCLUSIONS: The participation of the parents of CF patients is an important factor affecting the utilization of testing by relatives. Besides this, the influence of a favorable medical and cultural context (participation of gynecologists and family doctors in testing programs, genetic education of the general population) has to be considered.

Journal Article↗
PubMed1998

Nasal potential difference in congenital bilateral absence of the vas deferens.

Congenital bilateral absence of the vas deferens (CBAVD) is supposed to be due to defective activity of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) in the genital tract. With the aim of studying CFTR activity in vivo we measured nasal potential difference (NPD) in a group of CBAVD subjects, who were then compared with normal control subjects and CF patients. Sodium transport, measured under basal conditions and after amiloride superinfusion, was normal in almost all CBAVD patients, who had NPD values similar to those of normal control subjects. Chloride transport was studied by measuring NPD during perfusion with a chloride-free solution and isoproterenol. Under these circumstances CBAVD patients as a whole showed normal chloride secretion. However, three subjects with CBAVD had abnormal NPD values. They had either elevated sweat chloride concentrations together with symptoms of mild CF, or compound heterozygosity (DeltaF508/R117H). In conclusion the group of CBAVD patients as a whole presented normal bioelectric properties of nasal epithelium, suggesting normal CFTR activity. In a small subgroup NPD was abnormal, suggesting a diagnosis of CF, later confirmed by elevated sweat chloride concentrations or positive DNA testing. We suggest that CBAVD patients with altered NPD should undergo further clinical follow-up in order to detect possible late complications of CF.

Adrenergic beta-Agonists↗
PubMed1997

International practice patterns by age and severity of lung disease in cystic fibrosis: data from the Epidemiologic Registry of Cystic Fibrosis (ERCF).

The Epidemiologic Registry of Cystic Fibrosis provides clinical profiles for more than 6,800 patients and descriptions of practice patterns across eight European countries. Preliminary cross-sectional analysis has been performed by age and pulmonary function as an assessment of disease severity. In general, pulmonary treatments including inhaled bronchodilators and rhDNase increased as lung disease became more severe. Use of a number of treatments, including mucolytic agents and inhaled corticosteroids, varied markedly from country to country. Several widely used therapies are not yet supported by controlled clinical trials, particularly in patients under 6 years of age. Nutritional intervention was more common in patients with advanced lung disease regardless of age. Patients with nasal polyps had less severe lung disease at each age than patients without polyps. It is clear that studies of early interventions are needed to determine the optimal types of treatments and the ages at which to begin treatment.

Adolescent↗
PubMed1997

Newborn screening strategy for cystic fibrosis: a field study in an area with high allelic heterogeneity.

To verify to what extent mutation analysis on blood spot could improve cystic fibrosis neonatal screening in an area with high allelic heterogeneity, we designed a special protocol. Spot trypsin estimation at birth, trypsin re-testing after 1 month, meconium lactase testing and mutation analysis of delta F508, R1162X and N1303K, were retrospectively clustered according to different patterns (trypsin/lactase/mutation; trypsin/lactase/re-testing; trypsin/mutation) and compared. The programme, which lasted 2 years (1993-94) and covered most of North-eastern Italy, included 95,553 screened newborns. Thirty-four affected babies were detected by screening and one by meconium ileus (incidence 1/2730). The combined use of trypsin, lactase and mutation analysis in cystic fibrosis neonatal screening permits a better sensitivity compared to the two other combinations (34 diagnoses vs 32 in both cases). Moreover, the higher specificity of the former method (false positives 42 vs 148) allows a reduction of recalls, which cause considerable anxiety. We confirm in trypsin-positive newborns an increased frequency of cystic fibrosis heterozygotes (1/17).

Clinical Protocols↗
PubMed1997

Failure to thrive: the earliest feature of cystic fibrosis in infants diagnosed by neonatal screening.

The benefits of early treatment of nutritional and respiratory problems in the CF infant and of genetic counselling for the parents are widely recognized. However, clinical diagnosis of CF is often delayed despite early onset of symptoms and the usefulness of neonatal population screening as a preventive measure is still under debate. This study analyses the clinical history of CF patients diagnosed exclusively on the basis of positive neonatal screening tests with the aim of identifying the earliest markers of the disease. We studied 103 CF infants born in north-east Italy, diagnosed following neonatal screening: assay of immunoreactive trypsin (IRT) from a heel-prick blood sample followed by a measurement of meconium lactase in cases with raised IRT. Diagnosis was confirmed by sweat test at an average age of 39 days. Eighty-one patients (79%) had symptoms strongly suggestive of CF at diagnosis, and signs and/or symptoms of pancreatic insufficiency were present in 16 of the remaining 22 cases. The most frequent symptom was growth failure (69% of infants) and of these, 44% weighed the same as at birth or less. Pancreatic insufficiency was confirmed by the low level of faecal chymotrypsin found in 85% of cases. IRT was elevated in all cases. CF had not been suspected in any symptomatic infant, although most of the infants had been monitored by a paediatrician. In conclusion, most infants with CF diagnosed by neonatal screening are already symptomatic in the first six weeks of life and the most frequent symptom is failure to thrive; pancreatic insufficiency was already present in most cases. In areas without CF neonatal screening programs, the disease should be excluded by differential diagnosis in all cases with growth failure notwithstanding adequate caloric intake in the first months of life. The high sensitivity, low cost and simple execution of IRT and fecal chymotrypsin tests make them an ideal first step in suspect cases before proceeding to the sweat test, often performed late because of limited availability.

Birth Weight↗
PubMed1997

CFTR mutations and IVS8-5T variant in newborns with hypertrypsinaemia and normal sweat test.

Neonates positive for immunoreactive trypsinogen assay (IRT) and negative for sweat test have formerly been found to carry the major cystic fibrosis (CF) mutation, delta F508, much more frequently than the general population. Among the 716 IRT positive newborns detected by a three tier (IRT, mutation analysis plus meconium lactase assay, sweat test) CF screening programme in north eastern Italy during the period January 1993 to March 1996, we found 45 carriers, a number significantly higher than the expected 17 (p < 0.001). We speculated that some of these heterozygotes could actually be affected by a very mild form of CF, and carry on the other chromosome an undetected CFTR mutation or a DNA variant, such as the 5-thymidine allele in intron 8 of the CFTR gene (IVS8-5T). This hypothesis was tested in four samples; group A (the 45 carriers mentioned above), group B (51 non-carrier, IRT positive neonates), group C (50 IRT negative neonates), and group D (90 CF adult female carriers). Chromosomes with IVS8-5T were seven (7.78%) in group A, seven (6.86%) in group B, five (5%) in group C, and four in group D (2.22%). The 5T prevalence in group A was significantly higher (p < 0.05) compared to group D; similarly, a higher (p < 0.05) 5T frequency in group A compared to group C was detected by considering the chromosomes free from CFTR mutations. This study is consistent with previous papers in finding among neonates with high trypsin levels a CF carrier frequency significantly higher than that expected. It is also suggested that in at least some babies raised trypsin levels at birth could be a phenotypic expression of compound heterozygosity for a major CF mutation plus IVS8-5T.

Adult↗
PubMed1997

Nasal potential difference in cystic fibrosis patients presenting borderline sweat test.

The diagnosis of cystic fibrosis (CF) can be difficult if the sweat test and routine deoxyribonucleic acid (DNA) analysis are inconclusive. Under these circumstances, measurement of nasal potential difference (NPD) was proposed as a complementary diagnostic tool, as demonstrated in subjects bearing the G551S or 3849+10KbC-->T mutations. The purpose of the present study was to verify the diagnostic value of this technique in CF patients with a borderline sweat test. NPD was measured in 18 patients with a borderline sweat test, in whom CF diagnosis was based on the presence of one CF gene mutation in each chromosome (CF borderline). These patients were compared both to non-CF controls and CF patients with an abnormal sweat test (CF controls). Basal NPD values of CF borderline patients (mean value -39+/-6 mV, range -29 to -52 mV; n=18) were in the pathological range of CF controls (-39+/-8 mV, range -28 to -57 mV; n=37), and both were statistically different from values obtained in non-CF controls (-15+/-4 mV, range -6 to -23 mV; n=24; p<0.0001). Mutation analysis confirmed a high frequency of the 3849+10KbC-->T mutation in this group of CF borderline patients (positive in 14 out of 18 subjects), whereas other mutations, such as AF508, Q552X, N1303K and R1162X, were also found to be associated with this atypical CF phenotype. These results confirm the presence of pathological values of basal NPD in CF patients with borderline sweat test, and also extend this finding to subjects bearing genotypes other than the G551S and 3849+10KbC-->T mutations. The present findings, therefore, confirm the usefulness of measurement of basal nasal potential difference in all those patients in whom diagnosis of cystic fibrosis can be suspected but the sweat test remains inconclusive.

Adolescent↗
PubMed1996

Field inversion gel electrophoresis on Pseudomonas cepacia strains isolated from cystic fibrosis patients.

Genome fingerprinting by field inversion gel electrophoresis (FIGE) was utilized to typify 129 isolates of Pseudomonas cepacia (Pc) from 59 patients with cystic fibrosis (CF) and from environmental cultures in the CF ward. The aim of this study was to assess whether a segregation policy avoided colonization of CF patients by nosocomial strains and contamination of the environment by colonized individuals, whether or not an 'epidemic strain' was present in the ward and whether cross-colonization occurred in CF individuals subjected to prolonged close contact. The Pc strains of each patient remained unchanged over time; 78% of the genome finger printings (GFP) were individual, whereas the others gave rise to 9 GFP groups. A spirometer was probably contaminated by a newly colonized patient. Adequate sanitary measures and avoidance of excessive promiscuity are helpful for limiting but are unable to eliminate Pc transmission in the CF ward. Direct or indirect transmission, however seems, more frequent in CF patients in contacts outside the hospital.

Burkholderia Infections↗
PubMed1996

Deficiency of vitamins E and A in cystic fibrosis is independent of pancreatic function and current enzyme and vitamin supplementation.

UNLABELLED: The aim of this study was to evaluate to what extent serum vitamins A and E cystic fibrosis are affected by the underlying disease, pancreatic sufficiency or insufficiency, meconium ileus, nutritional status, age and treatment (enzyme and vitamin supplementation). Serum vitamin A and E levels were determined by high performance liquid chromatography in 210 cystic fibrosis patients, subdivided according to clinical condition into four subgroups (unsupplemented pancreatic insufficiency, supplemented meconium ileus, pancreatic sufficiency, supplemented pancreatic insufficiency) and compared with 42 control subjects. Vitamin A and E levels were generally lower in cystic fibrosis patients than in controls (P < 0.002 and P < 0.001 respectively). Subjects with pancreatic insufficiency regularly receiving enzyme and vitamin supplementation had significantly lower vitamin A (P < 0.05) and vitamin E (P < 0.01) levels than controls. In subjects with pancreatic sufficiency only vitamin A was significantly lower than in controls (P < 0.01). Vitamin levels were not age-dependent in cystic fibrosis, and no significant correlation with standardized body weight (Z-score) was observed. CONCLUSION: Cystic fibrosis patients show a clear tendency to vitamin A and E deficiency, irrespective of pancreatic function, body weight and standardized supplementation with pancreatic extract and liposoluble vitamins. Since the clinical significance of this deficiency is still not clear, longitudinal studies of cystic fibrosis patients with and without adequate vitamin supplementation are required.

Adolescent↗
PubMed1996

High- versus low-lipase acid-resistant enzyme preparations in cystic fibrosis: a crossover randomized clinical trial.

High-strength pancreatic enzyme preparations have recently come into widespread use in some countries for treatment of pancreatic insufficiency in cystic fibrosis. However, the therapeutic equivalence of these preparations to the standard acid-resistant microsphere preparations, under the same lipase dosage, has not been demonstrated by appropriate clinical trials; they are also considered responsible for severe colonic stricture. In a randomized crossover study, 20 adolescent or adult cystic fibrosis patients were treated in hospital with both low-lipase (A) and high-lipase (B) enteric-coated microsphere preparations. The fat excretion coefficient, evaluated over two 72-h fat balance periods (measured fat intake, 1.43 to 3 g/kg/day according to age), was the main response variable, secondary variables being stool wet and dry weight, fecal nitrogen output, and energy loss. With both preparations, patients were given a daily dose of 1,500-2,000 lipase BP U/g fat ingested, distributed across four meals. The low-strength preparation was divided into three doses during each meal, while the high-strength preparation was taken as a single dose in the middle of each meal. The considerable variability of results did not provide conclusive evidence of equivalence or significant differences between the two preparations in terms of steatorrhea and other variables. However, mean differences between the two treatments and their 95% confidence intervals showed less satisfactory results with the high-lipase preparation. A high-strength preparation is thought to release relatively less enzyme activity in the small intestine, forcing patients to increase their dosage and possibly creating a dangerous enzyme hyperconcentration in the large intestine. For this reason, the occasional occurrence of colonic stricture should be borne in mind, as must the possible scope for division of dosage during each meal.

Adolescent↗
PubMed1996

Burkholderia (Pseudomonas) cepacia epidemiology in a cystic fibrosis population: a genome finger-printing study.

In patients with cystic fibrosis, infection with Pseudomonas cepacia is associated with poor outcomes. However, the epidemiology of Burkholderia cepacia is still unclear. The aim of this study was to investigate the epidemiology of Burkholderia (Pseudomonas) cepacia colonization among cystic fibrosis patients attending the Verona CF Centre, a large specialized unit to which patients from different parts of Italy are admitted. We used a genome finger-printing system to analyse the nucleotidic structure of B. cepacia isolates from 60 colonized cystic fibrosis patients. Forty-two different finger-printing patterns were identified. Thirty-two patients were colonized by individual B. cepacia strains (53.3%). The remaining 28 subjects were divided into 10 different subgroups, each exhibiting a distinct strain of B. cepacia (46.7%). Nevertheless, direct, person-to-person transmission was evident in only 10 cases (16.7%). The stability up to 12 months, of the B. cepacia colonizing strain was documented in 36 individuals. Consistent with other reports, risk of B. cepacia transmission between cystic fibrosis patients through intimacy or nosocomial contact was found in our study. However, besides low contagiousness, our data suggest that the environmental reservoir of B. cepacia outside the hospital seems to play an important role in B. cepacia infection of our cystic fibrosis population.

Burkholderia Infections↗
PubMed1996

Effect of different inspiratory maneuvers on FEV1 in patients with cystic fibrosis.

The time course of inspiration has been shown to have a significant influence on the subsequent maximal expiratory flows and timed forced expiratory volumes in healthy adults and those with COPD. The purpose of this study was to evaluate the effect of two different inspiratory maneuvers on the spirogram in 15 patients with cystic fibrosis, aged 13 to 35 years, who had mild to moderate airway obstruction. Patients performed a forced expiratory maneuver either after a rapid inspiration without an end-inspiratory pause or after a slow inspiration with a 4-s end-inspiratory pause. Flow-time and volume-time curves were measured by a pneumotachograph. The mean values of FVC, FEV1, and peak expiratory flow were significantly larger by 11%, 13%, and 26%, respectively, after the rapid inspiration without an end-inspiratory pause compared to the slow inspiration with the end-inspiratory pause. This discrepancy probably reflects differences in effective elastic recoil pressure between the two maneuvers. Although the nature of this phenomenon is not fully understood, our results show that for spirometry in patients with cystic fibrosis, the preceding inspiratory maneuver influences the results. An important corollary is that this inspiratory maneuver should be standardized.

Adolescent↗
PubMed1995

Short-term effects of three chest physiotherapy regimens in patients hospitalized for pulmonary exacerbations of cystic fibrosis: a cross-over randomized study.

The aim of our study was to compare the short-term efficacy of three different chest physiotherapy (CPT) regimens (PD, postural drainage; PEP, positive expiratory pressure physiotherapy; HFCC, high-frequency chest compression physiotherapy) on patients with cystic fibrosis (CF) hospitalized for an acute pulmonary exacerbation. Sixteen patients with CF, 8 males, 8 females, aged 15-27 years (mean, 20.3 +/- 4), met the inclusion criteria: 1) age over 14 years; 2) mild or moderate airway obstruction; 3) sputum volume > 30 mL/day; 4) being proficient in PD and PEP CPT. Patients at admission had (mean +/- SD) forced volume in 1 second (FEV1) 52.2 +/- 21.9 percent predicted; Shwachman-Kulczycki clinical score 65.1 +/- 11 points; Chrispin-Norman chest radiography score 18.6 +/- 4.3 points. The three CPT regimens and a control-treatment (CONT) were administered in a random sequence, each patient receiving each treatment twice a day (in 50 minute sessions) for 2 consecutive days. During CONT and for 30 minutes after each session only spontaneous coughing was allowed. Wet and dry weight of sputum were recorded during the 50-minute sessions and 30 minutes afterward. Lung function was measured before and 30 minutes after each session. For each treatment a score was given by the patient for efficacy, and by both the patient and the physiotherapist for tolerance. Wet and dry weights of sputum collected during the sessions were greater for all CPT regimens than for CONT (P < 0.001, P < 0.0001). No significant differences between the three CPT regimens for both wet and dry weights were found when the number of coughs was taken into account.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1995

Bronchial artery embolization in the management of hemoptysis in cystic fibrosis.

Massive hemoptysis and/or recurrent expectoration of measurable amounts of blood are common complications of chronic bronchopulmonary infections in cystic fibrosis (CF). When conservative treatment fails to control bleeding, surgery or bronchial artery embolization (BAE) is frequently considered. We present our experience and long-term follow up of BAE in 14 CF patients (age range 15-39 years) with massive (6 subjects) and/or recurrent (8 subjects) hemoptysis not responsive to medical treatment. Seven had chronic hypercapnic respiratory failure. After angiographic evaluation, polyvinyl alcohol particles (Ivalon) were injected to embolize obviously enlarged bronchial arteries. Seventeen procedures were performed in 14 patients and 36 bronchial arteries were embolized. All the patients stopped bleeding immediately upon BAE. Most of the patients had postembolization fever, dysphagia, and transient chest pain which were managed symptomatically. After a median follow-up period of 10.5 months (range 0.5-38 months), no recurrence of hemoptysis was observed in 8 patients who are still alive. In 3 patients hemoptysis recurred and they underwent reembolization after 3, 22, and 25 months, respectively. Three subjects died of respiratory failure within 5 months from BAE. Presently, 50% of patients studied had a > or = 1 year interval free of major hemoptysis after the first BAE. Our experience indicates that massive and/or recurrent hemoptysis in CF patients can be safety and effectively managed by BAE if the procedure is performed by a skilled practitioner. The procedure was well tolerated and resulted in prolonged and satisfactory bleeding control in most patients.

Adolescent↗