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Biomedical subjects

P Arcuri

Publications and source records attributed to P Arcuri.

15 recordsLinked to original sources
PubMed2000

Mutational analysis of OB gene in obese and type 2 diabetes affected subjects.

Peripheral blood DNA from 12 subjects affected by familial obesity and from 35 subjects affected by type 2 diabetes were analysed for mutations in the coding sequence of the OB gene. Mutational analysis, conducted using the single strand conformation polymorphism (SSCP) technique, followed by direct sequencing did not reveal the presence of nucleotide variants in the coding region of the OB gene. The lack of mutations in the coding sequence is consistent with previous data suggesting that mutations in the coding sequence of the OB gene are not common in human familial obesity. In 2 samples displaying a non-informative pattern of SSCP and in 8 additional samples the nucleotide sequence of portion of the intron 2 bordering the coding sequence of exon 2 identified a G in the positions +14IVS and +18IVS, according to a sequence reported previously, but in contrast with some others. All samples were homozygous for these intron variants.

Adult↗
PubMed1998

A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online.

Gaucher disease results from mutations in the glucocerebrosidase gene located on human chromosome 1q21. Three clinical forms of Gaucher disease have been described: type 1, nonneuropathic; type 2, acute neuropathic; and type 3, subacute neuropathic. We have identified a novel mutation in a German-British patient with type 1 Gaucher disease which results in V191G of the glucocerebrosidase polypeptide. Because the mutation abolishes a HphI cleavage site, its presence was confirmed by HphI RFLP analysis of PCR-amplified genomic DNA. In the second allele of the patient, the mutation identified was g.5841A G(N370S). Sequence analysis of the remainder of the coding region of the gene as well as the exon-intron boundaries showed identity to normal controls. Because mutation N370S has so far been found only in type 1 Gaucher disease and postulated to result in mild clinical presentation, and since the clinical course of this patient has been relatively mild with minimal skeletal involvement, we speculate that the V191G/N370S genotype may also result in good prognosis.

Chromosomes, Human, Pair 1↗
PubMed1998

Transcripts with splicings of exons 15 and 16 of the hMLH1 gene in normal lymphocytes: implications in RNA-based mutation screening of hereditary non-polyposis colorectal cancer.

Germline mutations of the hMLH1 gene are estimated to account for a large fraction of kindreds affected by hereditary non-polyposis colorectal cancer (HNPCC). In a significant number of cases, hMLH1 mutations result in the expression of truncated proteins. We report here two novel alternatively spliced forms of hMLH1 mRNA in normal lymphocytes. One of these novel isoforms lacks the coding region of the gene between codons 557 and 578, corresponding to the entire exon 15. The deletion introduces a frameshift that results in a premature stop signal. The other isoform is characterised by an in-frame deletion spanning codons 578-632, corresponding to loss of the entire exon 16. Further studies are necessary to establish the biological significance of these alternative splicings. The presence of alternatively spliced hMLH1 transcripts that mimic pathogenic mutations should be taken into account in the mutational screening of the hMLH1 gene by reverse transcription-polymerase chain reaction methodologies.

Adaptor Proteins, Signal Transducing↗
PubMed1986

Pattern sensitivity to boundary and initial conditions in reaction-diffusion models.

We consider Turing-type reaction-diffusion equations and study (via computer simulations) how the relationship between initial conditions and the asymptotic steady state solutions varies as a function of the boundary conditions. The results indicate that boundary conditions which are nonhomogeneous with respect to the kinetic steady state give rise to spatial patterns which are much less sensitive to variations in the initial conditions than those obtained with homogeneous boundary conditions, such as zero flux conditions. We also compare linear pattern predictions with the numerical solutions of the full nonlinear problem.

Animals↗
PubMed1985

A simple model for the spatial spread and control of rabies.

A simple mathematical model for the spatial spread of rabies is presented. It models the dynamics of the front of an epizootic wave. We show how the model can be used to estimate the minimum width (in kilometers) of a break, that is, a region in which a control scheme is employed in order to stop the spatial progression of the rabies wave front. A simple expression is derived for the surviving fox population, after the passage of the epizootic, in terms of measurable parameters of the model.

Animals↗
PubMed1985

[Syndrome of catecholamine hypersecretion secondary to a jejuno-ileal bypass].

Hypersecretion of catecholamine primarily affecting adrenaline levels arose in a patient given a jejunoileal bypass for severe obesity. Apart from organic factors, including a hetero and/or orthotopic pheochromocytoma and the therapeutic effect of beta-blocking drugs, it is suggested that the pathogenesis of the patient's condition is based on a hypersecretion of VIP, as sometimes occurs in patients with short intestine/syndrome.

Adult↗
PubMed1977

[Relations between athero-arteriosclerosis and chronic liver diseases. Anatomopathological and statistical studies].

Starting from well known anatomopathological premises and on the basis of relative physiopathological concepts, particularly lipid metabolism and the lipidaemic fractions in patients suffering from chronic hepatopathy and athero-arteriosclerosis, a statistical investigation was carried out into the relations between the two disease conditions on the basis of the anatomopathological material collected over a period of six years in the S. Giovanni and S. Giacomo Hospitals in Rome. The conclusion is that there is a smaller incidence of athero-arteriosclerotic pathology in patients suffering from chronic hepatopathy up to the sixth decade of life.

Adult↗
PubMed1975

[Changes in some plasma parameters in the course of dextran 40].

Changes in certainplasma parameters (Hc, arterial and venous VP, creatinine clearance, potassium, PA and FC) induced by Dextran 40 perfusions (500 ml at 40 drops/min and 250 ml at 20 drops/min) were examined in 50 patients. The expander effect was more intense, though less protracted when the larger quantity was used. A rebound effect 24 hr after the test was also more frequent percentage-wise in this group. Significant changes in Hc were not observed for 24 hr and 96 hr respectively with the higher and the lower dose. The venous district was primarily concerned. There were also increases in blood potassium, FC and max PA, while min PA and blood proteins fell. No relation could be demonstrated between creatinine clearance and diuresis at the end of the test with respect to the amount of Dextran employed. None of these latter modifications was significant. There were no signs of intolerance.

Blood↗