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Biomedical subjects

G Mastella

Publications and source records attributed to G Mastella.

At least 55 records · Page 3Linked to original sources
PubMed1995

Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from north-eastern Italy: identification of 90% of the mutations.

A complete coding-region analysis on 225 cystic fibrosis (CF) chromosomes from a cohort that includes all the affected subjects born in two North-Eastern Italian regions over eight years was performed. In a previous study, we identified mutations on 166/225 (73.8%) CF chromosomes after screening for 62 mutations. To characterise the remaining 59 CF chromosomes, we carried out automated direct DNA sequencing (exons 9 and 13), RNA single-strand conformation polymorphism (exons 1-8 and 10-12) and denaturing gradient gel electrophoresis (exons 14a-24) of the 27 exons and flanking regions of the CF transmembrane conductance regulator gene. We identified 22 mutations, four of which are novel, viz. 711 + 5G-->A, R709X, 3132delTG and 2790-2A-->G, and we characterised 90.2% (203/225) of the CF chromosomes. Taking advantage of the homogeneity of the sample, an evaluation of the most important clinical parameters, assessed at the age of 12 years, is presented. We confirm some previously reported genotype-phenotype correlations and we report a new nonsense mutation (R709X) associated with a pancreatic sufficient phenotype.

Adolescent↗
PubMed1994

Determinants of maximal transdiaphragmatic pressure in adults with cystic fibrosis.

To investigate whether diaphragmatic strength could be reduced in cystic fibrosis (CF), and to examine possible mechanisms leading to diaphragmatic weakness, we measured transdiaphragmatic pressure (Pdi), together with lung mechanics, including dynamic "intrinsic" positive end-expiratory pressure (PEEPi,dyn), ventilation, lung volumes, and nutritional status in 15 adult patients with CF in stable clinical condition. Diaphragmatic strength was assessed as the maximum Pdi (Pdimax). Nutritional assessment included the calculation of weight as a percentage of ideal weight for height (Wt/Ht). On average, our 15 CF patients had airway obstruction (FEV1 = 59 +/- 28% predicted) and a small PEEPi,dyn (1 +/- 0.7 cm H2O). Functional residual capacity average 52 +/- 9% of the predicted total lung capacity. The Wt/Ht was normal on average (95%), but with a large range from malnutrition to a good nutritional status (76 to 109%). We found that Pdimax decreased with increasing FRC/TLC percent predicted (r = 0.55, p < 0.05), but more significantly with decreasing Wt/Ht (r = 0.76, p < 0.001). The multiple linear regression analysis for these factors was significant (R2 = 0.70, p < 0.05); however, the partial regression coefficient was significant only for Wt/Ht (p < 0.01). These results suggest that in CF patients, diaphragmatic strength decreases with the progression of the disease, increasing lung volume and worsening nutritional status, and that malnutrition is the strongest determinant of diaphragmatic weakness.

Adolescent↗
PubMed1993

Ear disease is not a common complication in cystic fibrosis.

Although upper respiratory tract involvement is a common finding in cystic fibrosis (CF), there is no agreement on whether hearing is affected in these patients. We studied 75 CF subjects and 50 healthy age-matched children with the same audiological protocol. An original scoring system was used to quantify the degree of hearing involvement (normal, mild, moderate and severe) in each subject. Prevalence of ear involvement in children with CF was similar to that in age-matched control subjects (25.4% and 18% respectively, P > 0.05). Ear disease in CF was not related to pulmonary disease, radiological sinusitis, nasal polyposis, or use of parenteral aminoglycosides. These data showed that the risk of ear disease in CF was not increased even if patients with severe audiological involvement were described only in the CF group.

Audiometry↗
PubMed1993

Cystic fibrosis: the delta F508 mutation does not lead to an exceptionally severe phenotype. A cohort study.

In an attempt to ascertain a relationship between genotype and phenotype, we studied the pulmonary and nutritional status of 123 cystic fibrosis patients with known genotype at an age of 8.5-10 years. Patients represent a cohort as they are almost all those born and diagnosed in a given area and period. They were followed at a single centre using uniform diagnostic and treatment protocols. Pulmonary and nutritional status of homozygous delta 508 patients did not differ from that of compound heterozygotes or of patients with other unspecified genotypes. Pulmonary manifestations varied widely in all genotype groups. With the given number of patients, a slightly higher mortality of delta F508 homozygotes could have been coincidental. We conclude that up to the age of 8.5-10 years the severity of pulmonary lesions and nutritional deficiencies is not related to the delta F508 mutation.

Child↗
PubMed1992

Effect of introducing prenatal diagnosis on the reproductive behaviour of families at risk for cystic fibrosis. A cohort study.

We studied 101 couples to determine how far their reproductive behaviour was affected by the diagnosis of cystic fibrosis (CF) on its first occurrence in the couple's progeny and by the availability of prenatal diagnosis (PD). The couples were all resident in the Veneto and Trentino regions and attending the Verona CF Centre. CF had been diagnosed in the first affected child, during the period 1 January 1980-1 July 1990, before the age of 1 year. Couples received a questionnaire regarding socio-demographic status, reproduction data, and awareness of PD. Reproductive history was divided into three phases: prior to diagnosis of CF in the first affected child; from this time until PD was made available; and after the couples had learned of PD. In phase 2 (awareness of the genetic risk but not of PD), 54 couples showed a marked decrease in reproduction, none of the few pregnancies that occurred being taken to term. When couples became aware of PD, some resumption of reproductive activity occurred and 11 per cent of the 101 couples had another child; PD was used in 65 per cent of pregnancies and the abortion rate decreased to 35 per cent. All couples who opted for PD had no children without CF.

Abortion, Eugenic↗
PubMed1992

Hemoglobin desaturation during sleep and daytime in patients with cystic fibrosis and severe airway obstruction.

Transcutaneous hemoglobin saturation by pulse oximetry was evaluated during sleep and for 2-3 h during the day in 31 patients with cystic fibrosis (median age 15.2 years; range 7.6-33.6 years) and severe airway obstruction. Pulse oximetry readings were analyzed as a cumulative percentage of time in which oxygen saturation was < 90% during both sleep and daytime. Each patient was also examined using clinical and radiological scores, spirometry and arterial blood-gas analysis. The agreement between arterial and transcutaneous saturation was evaluated in 29 patients. The difference between transcutaneous and arterial saturation was 2.4 +/- 2.0% and it increased as arterial saturation decreased. Clinical and radiological scores and spirometry parameters showed a poor correlation with both overnight and daytime desaturation. An arterial saturation < 94% may indicate a risk of consistent desaturation. This occurred for more than 50% of the time in 11 of 20 patients during sleep and in 5 of 20 patients during daytime hours.

Adolescent↗
PubMed1992

Modification of some markers of inflammation during treatment for acute respiratory exacerbation in cystic fibrosis.

An objective approach for monitoring the treatment of acute pulmonary exacerbation in cystic fibrosis was evaluated. Eleven biochemical markers of inflammation (erythrocyte sedimentation rate, neutrophil count, C-reactive protein, alpha-1 antitrypsin, haptoglobin, ceruloplasmin, fibronectin, alpha-1 glycoprotein, alpha-2 macroglobulin, C3, granulocyte elastase and anti-Pseudomonas IgG) were measured in blood serum and plasma from 46 cystic fibrosis patients with chronic Pseudomonas aeruginosa colonization before and after treatment. The overall outcome in each patient was evaluated by means of a pondered sum of clinical, chest X-ray and lung function scores. Biochemical markers were related to the overall clinical improvement: haptoglobin, ceruloplasmin, fibronectin and alpha-1 glycoprotein showed a good sensitivity (64-70%), specificity (60-70%) and positive predictive value (86-89%). Granulocyte elastase showed a similar sensitivity (67%) and positive predictive value (85%) but a lower specificity (33%). The negative predictive value was generally poor (32-39%). Our data suggest that the combined measurement of some markers of inflammation and of conventional clinical parameters, may help in evaluating the efficacy of anti-infective treatment in cystic fibrosis.

Acute Disease↗
PubMed1992

Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.

The clinical course of nine cystic fibrosis patients homozygous for the CF gene nonsense mutation R1162X was investigated. Since this mutation should lead to an interruption in the synthesis of the cystic fibrosis transmembrane regulator (CFTR) protein, a severe clinical course was expected. All patients showed pancreatic insufficiency, while the course of the lung disease was mild to moderate. These results suggest that this form of truncated CFTR protein, still containing the regulatory region, the first ATP binding domain, and both transmembrane domains, could be partially working in the lung tissues.

Adenosine Triphosphate↗
PubMed1991

Ultrastructural ciliary defects in children with recurrent infections of the lower respiratory tract.

One hundred fifty-four children with recurrent or chronic infections of the lower respiratory tract compatible with the diagnosis of primary ciliary dyskinesia (PCD) were evaluated for the presence of ultrastructural ciliary abnormalities. Studies were performed on multiple samples of respiratory mucosa obtained by nasal and bronchial brushing. Twenty-eight children showed ultrastructural ciliary defects compatible with the diagnosis of PCD: Twenty-four presented dynein arm deficiency (either as isolated defect or in association with microtubular abnormalities), two had ciliary aplasia, and two showed microtubular abnormalities. Eleven patients with PCD had situs viscerum inversus, bronchiectasis, and chronic sinusitis (Kartagener's syndrome); one child with Kartagener's syndrome had normal ciliary structure. The appearance of respiratory symptoms within the first month of life, the colonization by Haemophilus influenzae, and a history of recurrent rhinitis and otitis were characteristically present in children with PCD. The clinical status of those patients who reached adolescence was, in our experience, remarkably good. An early diagnosis with adequate prevention and therapy of respiratory infections may have an important role in minimizing irreversible lung damage.

Adolescent↗