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Biomedical subjects

M Pinotti

Publications and source records attributed to M Pinotti.

33 records · Page 2Linked to original sources
PubMed1996

Estimating mechanical blood trauma in a centrifugal blood pump: laser Doppler anemometer measurements of the mean velocity field.

A laser Doppler anemometer (LDA) was used to obtain the mean velocity and the Reynolds stress fields in the inner channels of a well-known centrifugal vaneless pump (Bio-pump). Effects of the excessive flow resistance against which an occlusive pump operates in some surgical situations, such as cardiopulmonary bypass, are illustrated. The velocity vector field obtained from LDA measurements reveals that the constraint-forced vortex provides pumping action in a restricted area in the core of the pump. In such situations, recirculating zones dominate the flow and consequently increase the damage to blood cells and raise the risk of thrombus formation in the device. Reynolds normal and shear stress fields were obtained in the entry flow for the channel formed by two rotating cones to illustrate the effects of flow disturbances on the potential for blood cell damage.

Blood Flow Velocity↗
PubMed1996

Amyotrophic lateral sclerosis after long-term exposure to drinking water with high selenium content.

We examined 9 years' incidence of amyotrophic lateral sclerosis, a disease previously associated with a high-selenium environment, in a cohort of 5,182 residents of Reggio Emilia, Italy. This cohort had accidentally been exposed to drinking water with high selenium content. Four cases were diagnosed during the follow-up. Using the remainder of the municipal population as the reference group, the standardized incidence ratio was 4.22 (95% confidence interval = 1.15-10.80). The standardized incidence ratio was higher after limiting the analysis to the subcohort with the longest ascertainable exposure period. The findings appear to confirm a causal association between overexposure to environmental selenium and amyotrophic lateral sclerosis.

Amyotrophic Lateral Sclerosis↗
PubMed1995

Molecular bases of CRM+ factor X deficiency: a frequent mutation (Ser334Pro) in the catalytic domain and a substitution (Glu102Lys) in the second EGF-like domain.

The presence of gene lesions in coagulation factor X (FX, Stuart factor) was investigated in asymptomatic subjects with FX deficiency characterized by the presence of dysfunctional molecules in plasma, as demonstrated by the discrepancy between clotting activity and antigen level. A missense mutation (Ser334Pro) in the catalytic domain was found in three unrelated families in both the homozygous and the heterozygous conditions, and also in the compound heterozygous form with the substitution of Lys for 102 Glu. None of the mutations was detected in 40 unrelated subjects from the same geographic area. The Ser334Pro mutation affects a serine protease region characterized by extensive variation in the coagulation factors but conserved in mammalian factor X molecules. The Glu102Lys mutation affects a residue of the second EGF-like module also conserved in protein C. Both mutated residues are surface-exposed and found in protein regions suggested to be involved in macromolecular interactions which are impaired in the dysfunctional molecules.

Base Sequence↗
PubMed1995

Computational prediction of hemolysis in a centrifugal ventricular assist device.

This paper describes the use of computational fluid dynamics (CFD) to predict numerically the hemolysis in centrifugal pumps. A numerical hydrodynamical model, based on the full Navier-Stokes equation, was used to obtain the flow in a vaneless centrifugal pump (of corotating disks type). After proper postprocessing, critical zones in the channel were identified by means of two-dimensional color-coded maps of %Hb release. Simulation of different conditions revealed that flow behavior at the entrance region of the channel is the main cause of blood trauma in such devices. A useful feature resulting from the CFD simulation is the visualization of critical flow zones that are impossible to determine experimentally with in vitro hemolysis tests.

Heart-Assist Devices↗
PubMed1995

Protein S mRNA in patients with protein S deficiency.

A protein S gene polymorphism, detectable by restriction analysis (BstXI) of amplified exonic sequences (exon 15), was studied in seven Italian families with protein S deficiency. In the 17 individuals heterozygous for the polymorphism the study was extended to platelet mRNA through reverse transcription, amplification and densitometric analysis. mRNA produced by the putative defective protein S genes was absent in three families and reduced to a different extent (as expressed by altered allelic ratios) in four families. The allelic ratios helped to distinguish total protein S deficiency (type I) for free protein S deficiency (type IIa) in families with equivocal phenotypes. This study indicates that the study of platelet mRNA, in association with phenotypic analysis based upon protein S assays in plasma, helps to classify patients with protein S deficiency.

Alleles↗
PubMed1994

Molecular defects in CRM+ factor VII deficiencies: modelling of missense mutations in the catalytic domain of FVII.

The molecular defects causing CRM+ factor VII deficiency were investigated in seven unrelated subjects and several members of their families. Four missense mutations located in the catalytic domain of factor VII were found. The previously reported 304Arg-->Gln substitution was present in the homozygous and heterozygous forms, with different polymorphic haplotypes, thus demonstrating that it is recurrent and frequent in the Italian population. The 310Cys-->Phe substitution was found in the homozygous form and in the compound heterozygous condition with the nonsense mutation 356Trp-->stop. Two missense mutations, 298Met-->Ile and 342Gly-->Arg, were found in the homozygous and in the heterozygous condition respectively. Molecular heterogeneity was further increased by finding of the 353Arg-->Gln polymorphism in the doubly heterozygous condition with the 304 and 342 mutations. Plausible explanations for loss of FVII function were found by inspecting a model of the serine protease domain of factor VIIa. Inefficient activation of the catalytic site is predicted for 298Met-->Ile. 342Gly-->Arg would directly distort the geometry of the 'oxyanion hole' preventing formation of a substrate enzyme intermediate. 310Cys-->Phe is predicted to have an adverse effect on tissue factor interaction. These mutations point to important regions of the factor VII molecule.

Antigens↗
PubMed1994

[Epidemiology of gestational diabetes in Scandiano health district 12 (USL 12)].

AIM OF THE STUDY: To evaluate retrospectively the results of a screening for gestational diabetes (GD) carried out during the period 1981-91 on pregnant women with one or more risk factors for diabetes. MATERIALS AND METHODS: An oral glucose tolerance test (OGTT) was performed between the 14th and 18th weeks of pregnancy in 423 women. Those who were positive for gestational diabetes were successively treated with diet alone or together with insulin to obtain strict metabolic control. RESULTS: Positivity for GD varied between 2.2% and 2.4% in all women studied and between 20.8% and 28.8% in pregnant women with two or more risk factors. Pathological deliveries (caesarian and dystocial) and macrosomias proved more frequent, though not significantly so, in pregnant women positive for GD compared to those who proved negative. The maternal 5 years follow up of women with previous GD showed 10% positivity for IGT and 14% positivity for diabetes. CONCLUSION: Intensive treatment of a pregnant woman with GD, allows the achievement of results similar, in terms of maternal and fetal health, to those observable in non-diabetic pregnant women. GD moreover seems highly forseeable for the appearance of diabetes mellitus and it is therefore advisable, after pregnancy, to perform a long-term follow-up for preventive purposes.

Adult↗
PubMed1993

In-frame deletion of von Willebrand factor A domains in a dominant type of von Willebrand disease.

von Willebrand disease (vWD), the most common inherited bleeding disorder in humans, is very heterogeneous and has been classified into several subtypes. Missense mutations have been found to be responsible for the dominant type II vWD, characterized by qualitative abnormalities affecting von Willebrand factor (vWF) function. The breakpoints of a heterozygous vWF gene deletion (31 Kb), occurring 'de novo' in a patient with a variant of type II vWD, were localized to introns 25 and 34 and sequenced. An Alu repeat in intron 25 was interrupted between the transcriptional boxes A and B. The new junction present in the abnormal von Willebrand factor mRNA was sequenced after reverse transcription of platelet RNA. The codon 1104 (Cys) is followed in frame by the mutated codon 1926 (Cys to Arg), thus removing the complete A domains, found in a wide variety of genes and characterized by independent assembly 'in vitro'. We propose that the abnormal vWF, which carries intact protein domains responsible for vWF dimer and multimer formation, makes ineffective interactions with the normal molecules in the biosynthetic process, causing the dominant type II phenotype through a novel mechanism.

Base Sequence↗
PubMed1992

Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7).

The 3' portion of the coagulation factor VII gene, containing the activation and serine protease domains, was investigated in four subjects with factor VII deficiency by temperature gradient gel electrophoresis and sequencing of polymerase chain reaction (PCR) products. Molecules displaying an altered melting behaviour were detected in three subjects, and direct sequencing showed two mutations. A G-to-T transversion causing a missense mutation, Cys-310 to Phe, suppresses a disulphide bond conserved in the catalytic domain of all serine proteases. This mutation, which in the homozygous form causes a severe reduction in protease activity (4%), was found in two patients from different Italian regions. A G-to-A transition, which gives rise to a missense mutation, Arg-304 to Gln, and is associated with the factor VII padua variant, was found in the heterozygous form in a subject also affected by von Willebrand disease. Two polymorphic alleles, which differ in one repeat monomer element, were precisely mapped in a region spanning the exon-intron 7 border of the factor VII gene and studied in families with factor VII or X deficiency.

Base Sequence↗
PubMedDate not supplied

Zinc, copper, and zinc- or copper-dependent enzymes in human hypertension.

Imbalance of zinc and copper status has been hypothesized in human hypertension. A case-control study was carried out to elucidate the possible relationship between zinc and copper status and essential hypertension. Thirty-one subjects affected by mild stable hypertension, pharmacologically untreated, were investigated together with 31 normotensive controls individually matched for sex, age, and smoking habits. Zinc and copper in serum and urine wee measured, and serum activities of alkaline phosphatase (AP), lactic dehydrogenase (LDH), copper-zinc superoxide dismutase (Cu-Zn SOD), lysyl oxidase (LOX), and monoamine oxidase (MAO) were evaluated. No significant difference in serum and urine zinc and copper content as far as in serum activity of zinc (AP and LDH) or copper (Cu-Zn SOD, LOX, and MAO)-dependent enzymes was found between hypertensives and normotensives. Positive relationships were found in normotensives between serum and urine levels of zinc (r = 0.577; p = 0.001) and copper (r = 0.394; p = 0.028), and between serum copper and Cu-Zn SOD (r = 0.534; p = 0.002). In normotensives, diastolic blood pressure and serum zinc were positively related (r = 0.370; p = 0.041). In hypertensives, inverse correlations were observed between diastolic blood pressure and AP (r = -0.498; p = 0.004) and Cu-Zn SOD (r = 0.452; p = 0.011), and between systolic blood pressure and LOX (r = -0.385; p = 0.033). Diastolic blood pressure was related to LDH inversely in hypertensives (r = -0.357; p = 0.049) and positively in normotensives (r = 0.457; p = 0.010). In normotensives, diastolic blood pressure was inversely related with MAO (r = -0.360; p = 0.046). These findings support the hypothesis that an imbalance of zinc and copper status might be involved in human hypertension.

Alkaline Phosphatase↗
PubMedDate not supplied

[Spontaneous perforation of the cecum without colonic obstruction. Report of 3 cases].

Spontaneous perforation of the colon without obstruction is related to intestinal and extra intestinal diseases, mainly gynecological procedures. Its etiology is unknown, and there are many theories. Because of its diagnosis peculiarities, as well as its rarity, and mainly the severity of the disease, the authors describe three cases, relating the necessity of early diagnosis and correct surgical treatment.

Adult↗