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Biomedical subjects

G Marchetti

Publications and source records attributed to G Marchetti.

At least 91 records · Page 5Linked to original sources
PubMed1990

Bronchoalveolar lavage and morphology of the airways after cessation of exposure in asthmatic subjects sensitized to toluene diisocyanate.

To evaluate the morphologic basis of the different outcomes of toluene diisocyanate (TDI) asthma after quitting occupational exposure, we examined ten patients with TDI asthma who showed, at diagnosis, a positive TDI challenge test and nonspecific bronchial hyperresponsiveness (NSBH) to methacholine. After diagnosis, all patients ceased work and a 4- to 40-month follow-up was obtained with three to eight determinations of the cumulative dose producing a 15 percent fall in FEV1 (PD15FEV1) methacholine in each patient. Bronchoalveolar lavage (BAL) and biopsy of bronchial muscosa were performed 3 to 39 months after cessation of work, in the absence of acute exacerbations of the disease. Total cell count in BAL fluid was moderately increased in four of ten patients, eosinophils were increased in five of ten patients, and neutrophils were increased in eight of ten patients. Mucosal biopsy specimens of main or lobar bronchi were available in eight of ten patients; epithelial damage and thickening of basement membrane was observed in almost all patients, as well as a mild-to-moderate inflammatory reaction in the submucosa, mainly represented by lymphocytes, eosinophils, and neutrophils. No relationship was observed between the cellularity of BAL and the degree of NSBH at the time of BAL; mean values of total cells and differential count were not different between patients with presence or absence of the different histologic findings. Mucosal biopsy and BAL were performed also in four subjects exposed to dusts without respiratory symptoms or NSBH; similar findings were obtained except for the absence of eosinophils in BAL and a lesser degree of basement membrane thickening and inflammatory reaction in the submucosa. The study of the changes in NSBH after quitting exposure showed that five of ten patients had a significant improvement in NSBH to methacholine, as evaluated by a positive significant linear regression between months of work cessation and PD15FEV1 methacholine; only one of these five patients had an increased number of eosinophils in BAL fluid. By contrast, four of the five patients with persistent NSBH after quitting exposure had an increased number of eosinophils in BAL. We suggest that persistent NSBH in TDI asthma after cessation of work may be related to an inflammatory reaction in which eosinophil infiltration seems to be a major determinant.

Adult↗
PubMed1990

Cough test to assess cardiovascular autonomic reflexes in diabetes.

Coughing induces cardioacceleratory responses under cholinergic control. The Cough Test (CT), a standardized test that uses a series of coughs with electrocardiographic monitoring, was used to assess the functional integrity of cardiovascular autonomic nerves. In 224 control subjects and 235 diabetic patients, heart-rate (HR) responses were compared with four established tests: lying to standing (LS), standing to lying (SL), deep breathing (DB), and Valsalva maneuver (VM). In control subjects, HR responses declined significantly with age in a curvilinear pattern. Log-transformed indices were used to estimate percentiles. The CT-HR responses were reproducible and significantly associated with other HR-response tests. Sixty-nine (29%) diabetic patients had an abnormal value less than or equal to 1st percentile, whereas only 2 control subjects had such an abnormality. Among diabetic patients, age and duration of diabetes exerted a significant negative influence. With the use of the criteria of two abnormal or one abnormal and two borderline tests (among CT, LS, SL, DB, or VM) as a minimal criteria for cardiovascular autonomic neuropathy, CT and LS had the least overlap between the control and diabetic populations and were significantly better than SL or VM (P less than 0.005 for CT, P less than 0.01 for LS). They were not different from DB. We found the CT to be simple to perform, reproducible, and useful for the assessment of cardiovascular autonomic reflexes.

Adult↗
PubMed1990

Direct detection of a missense mutation causing severe hemophilia A by PCR amplification and fluorescence scanning.

The amplification of Factor VIII gene-specific sequences, obtained by polymerase chain reaction, was used for hemophilia A carrier detection. Exon 24 sequences were employed in the carrier status determination of a missense mutation causing severe hemophilia A in two unrelated patients. After agarose gel electrophoresis, the digested DNA was subjected to quantitative determination of fluorescence. This technique significantly improves the digest analysis.

Base Sequence↗
PubMed1989

Acute haemodynamic effects of ibopamine and dopamine on isovolumic relaxation.

The effects of intraduodenal ibopamine (a new orally active inotropic agent claimed to have haemodynamic effects similar to dopamine) on isovolumic relaxation were monitored for 90 min in eight closed-chest anaesthetized dogs. Dopamine and epinine (ibopamine active metabolite) were also infused at graded doses. After 15 min, ibopamine (12 mg/kg) shortened the time constant of isovolumic relaxation, and increased stroke volume and mean aortic pressure. Peak positive dP/dt increased significantly only 10 min later. Heart rate did not change. Dopamine (10 micrograms/kg per min) similarly reduced the time constant, and increased stroke volume, mean aortic pressure, peak positive dP/dt and heart rate. Epinine (10 micrograms/kg per min) caused similar changes in peak positive dP/dt, stroke volume, mean aortic pressure, and accelerated time constant without raising the heart rate. Ibopamine and epinine therefore significantly improved the isovolumic relaxation phase, like dopamine, without however affecting the heart rate.

Animals↗
PubMed1989

Clinical and hemodynamic effects of long-term administration of gallopamil in patients with coronary artery disease and normal or impaired left ventricular function.

The hemodynamic and clinical profiles of gallopamil, a new calcium antagonist, were evaluated in 20 patients with severe coronary artery disease in a placebo-controlled, single-blind study. The patients were divided into 2 groups depending on baseline ejection fraction (greater than 45 or less than or equal to 45%) and underwent nuclear ventriculography, both at rest and during bicycle exercise under electrocardiographic monitoring, after 3 weeks of therapy (50 mg 3 times daily) and the 1-week run in and washout placebo periods. The mean anginal weekly frequency per patient was significantly reduced, from 3.4 to 0.5 (p less than 0.001). The left ventricular ejection fraction, cardiac volumes, ejection and filling indexes at rest and for the same workload were not altered in the population as a whole or in each of the 2 groups. The rate pressure product during exercise was reduced for the same workload from 18.0 +/- 5.0 X 10(3) to 16.8 +/- 4.7 X 10(3), while the regional ejection fraction in ischemic regions was not significantly changed. Individual variations of ventriculographic parameters in both groups were not related to basal values. Gallopamil increased the total duration of exercise from 432 +/- 201 to 537 +/- 188 s (p less than 0.001). Six patients did not complain of angina and their exercise was interrupted because of muscular weakness. The hemodynamic and clinical responses did not differ when the results in the population as a whole and in each of the 2 groups were compared. Gallopamil was effective and well tolerated, even in patients with very depressed cardiac function.

Aged↗
PubMed1989

Sublocalization of von Willebrand factor pseudogene to 22q11.22-q11.23 by in situ hybridization in a 46,X,t(X;22)(pter;q11.21) translocation.

The von Willebrand factor pseudogene, previously mapped to chromosome 22, was sublocalized by in situ hybridization using as probe a von Willebrand factor cDNA fragment completely contained in the pseudogenic region. Chromosome spreads were from a patient carrying a unique balanced de novo translocation 46,X,t(X;22)(pter;q11.21). Silver grain analysis indicated that the human von Willebrand factor pseudogene is located on 22q,11,22-q11,23, a region relevant for several somatic and constitutional chromosomal alterations.

Child, Preschool↗
PubMed1989

A recurrent missense mutation (Arg----Gln) and a partial deletion in factor VIII gene causing severe haemophilia A.

The presence of gene lesions in coagulation factor VIII (FVIII) gene was investigated in 70 Italian patients severely affected by haemophilia A. cDNA probes specific for exons 14-26 of the FVIII gene were used. In two related patients a gene deletion removes exon 26, a gene lesion similar to that described previously in a British haemophiliac. In exon 24 a C to T transition in the reverse complement strand causes a missense mutation in the coding strand (CGA----CAA, 2209 Arg----Gln). The mutation is located in a very conserved FVIII homology region and severely reduces FVIII activity. By restriction analysis and hybridizations with oligonucleotide probes this gene alteration was found in two unrelated haemophiliacs and in their relatives.

Chromosome Deletion↗
PubMed1989

Mammalian tissue culture growth, viral replication, and cultivation using serum replacement factor.

Variability, cost, and availability of fetal bovine serum are in question; thus, we examined whether using a serum replacement factor in multiple mammalian tissue cultures could support not only cell growth, but also viral replication, expression, and retention of phenotypic markers. By using a serum replacement in defined media, we demonstrated multipassage cell growth of several different cell lines and viral cultivation and replication equivalent to fetal bovine serum. Moreover, by supplementing media with a serum replacement factor we observed at least a 28% financial savings.

Animals↗
PubMed1989

Partial gene deletion in a family with factor X deficiency.

The presence of gene lesions in coagulation factor X (FX, Stuart factor) was investigated in patients with FX deficiency or an FX abnormality (FX Friuli). The proposita had a heterozygous partial deletion of the FX gene with severe deficiency of FX activity and antigen. The lesion, which was inherited from her mother, removes the 3' portion of the gene coding for the catalytic domain of the factor. In this family, two differently affected FX genes are present, leading to double heterozygosity of the proposita and thus excluding consanguinity of parents. An apparently normal gene structure was observed in the other patient with FX abnormality, suggesting the presence of a small gene lesion.

Alleles↗
PubMed1988

A HindIII RFLP and a gene lesion in the coagulation factor VIII gene.

The presence and inheritance of restriction fragment length polymorphisms (RFLPs) and gene lesions in the coagulation factor VIII gene were investigated in 15 hemophilia families. An abnormal HindIII 2.6-kb band, previously detected in a severe hemophiliac, was observed in a not severely affected patient and also in the normal gene of a woman carrying a hemophilic gene in which the lesions was found. The TaqI site in exon 24 of this defective gene was removed by a C to T transition causing an amino acid change (Arg----Gln). Very low amounts of factor VIII activity and antigen were detected in the severely affected grandson. The presence of the HindIII 2.6-kb fragment in both normal and pathological genes indicates that a factor VIII RFLP without functional meaning was found. Its frequency, determined in 60 chromosomes, is 0.18. Double digestions enabled us to map the polymorphic site 3' to the exon 19.

Antigens↗
PubMed1988

A frequent factor XII gene mutation in Hageman trait.

An additional TaqI restriction site was mapped in intron 2 of the factor XII gene. The site was found only in subjects with total or partial factor XII deficiency and thus represents the true gene lesion or a very tightly linked restriction fragment length polymorphism. The altered gene identified by this marker is present in four (three heterozygotes and one homozygote) of five unrelated Hageman trait subjects from different Italian regions. In the homozygous state the altered gene gives rise to a very marked reduction of factor XII activity. No deletion was found in the deficient factor XII genes.

Blotting, Southern↗
PubMed1988

von Willebrand disease investigated by two novel RFLPs.

Two partial cDNAs for von Willebrand factor (vWF) were used to investigate gene lesions and restriction fragment length polymorphisms (RFLPs) in vW disease (vWd) and normal controls. No gene alteration was detected but two TaqI RFLPs, likely to be intronic and originating from point mutations, were found in the 3' part of vWF gene. The two TaqI RFLPs, identified by the same probe, are informative in approximately 50% of the subjects. Used in combination with two other known RFLPs, they define several haplotypes similarly distributed in vWd and normals. Linkage disequilibrium between loci identified by the RFLPs is present. In a family study the RFLP patterns demonstrate homozygosity for the affected vWF gene in a severe (type III) patient and identify several heterozygous subjects. The RFLPs analysis has been related to the haemostatic values and multimer distribution. In two of the four unrelated patients with severe vWd examined the RFLPs study indicates double heterozygosity for the affected vWF genes.

Genetic Linkage↗
PubMed1988

Parotid sialography and minor salivary gland biopsy in the diagnosis of Sjögren's syndrome. A comparative study of 84 patients.

Parotid sialography and labial salivary gland biopsy were performed in 84 patients with clinical features of primary or secondary Sjögren's syndrome (SS). Signs of focal sialoadenitis were found in 73/84 patients (87%), but only 37 (44%) scored 4 which is considered diagnostic for classic SS. In contrast 55/84 patients (66%) showed some sialographic abnormalities. In patients with both primary and secondary SS, hypergammaglobulinemia and anti-SSA antibodies appeared to be the serological variables more closely related to the entity of either sialographic or histologic abnormalities. In primary SS extraglandular manifestations and recurrent parotid swelling were significantly associated with parotid sialography and labial salivary gland biopsy changes, respectively. Our study indicates that currently both radiological and histological examination are necessary for the assessment of salivary gland involvement in SS.

Antibodies, Antinuclear↗
PubMed1988

Plasmacytoma of the parotid gland. Report of a case and review of the world literature.

Extramedullary plasmacytoma (EP) is a relatively rare neoplasm; about 90% of cases are localized in the head and neck area. EP has been considered a precursor of multiple myeloma but cases showing long disease free intervals or cure by surgery alone have been reported. A research of the world literature pointed out the extremely rare localization of solitary plasmacytoma in the salivary glands. Only 9 cases have been reported until now, 6 in the parotid gland, 2 in the submandibular glands and 1 in both the parotid and submandibular gland.

Humans↗
PubMed1987

RFLP analysis in families with sporadic hemophilia A. Estimate of the mutation ratio in male and female gametes.

To investigate the sporadic occurrence of hemophilia A and to estimate the sex ratio of mutation rates directly, 17 families with isolated cases of the disorder were studied by RFLP analysis and by clotting assays. Three RFLPs, one intragenic and two with close linkage to hemophilia A, were used. In eight families the RFLP study excluded the carrier status of the maternal grandmothers. Since hemostatic studies showed that the eight mothers of these propositi were hemophilia carriers, the origin of the newly mutated genes was inferred from the RFLP patterns: six hemophilic genes derived from the normal maternal grandfathers and two, from maternal grandmothers. The data indicate a higher mutation rate in males than in females, as previously suggested by segregation analysis and coagulation studies. However the sex ratio indicated by the RFLP analysis is lower than previously reported and could explain previous conflicting estimates.

Female↗