Multifactorial inheritance and recurrence risks of multiple sclerosis in Italian patients.

This study is based on 166 patients with definite multiple sclerosis (MS) residing in different Italian regions and on 332 parents and 326 siblings. Seven patients had a first-degree relative with a definite diagnosis. The comparison with a population age-matched for specific frequency of MS showed an increase of the disease among relatives.

High efficiency in the attribution of parental origin of non-disjunction in trisomy 21 by both cytogenetic and molecular polymorphisms.

The precise origin of the supernumerary chromosome can be defined in the majority of trisomy 21 cases. This is achieved by evaluating the chromosome 21 short arm polymorphism and analysing restriction fragment length polymorphisms (RFLPs) of multiple chromosome 21 loci. We report a study on 37 Italian families with Down's syndrome.

Favism: impairment of proteolytic systems in red blood cells.

Red blood cells (RBC) from favic patients are characterized by (a) severe oxidative damage (contributed by autoxidation of divicine and isouramil, two pyrimidine aglycones present in fava beans) and (b) greatly increased calcium levels. In vitro, both autoxidation of divicine and calcium loading produced marked alterations of proteolytic systems in intact RBC. Specifically, autoxidizing divicine inactivated procalpain, the proenzyme species of calcium-activated cytosolic neutral proteinase, or calpain.

Evolution and severity markers in 233 MS patients.

Clinical data of 233 patients (202 definite and 31 probable MS) have been examined in relation to the following prognostic indicators: sex, age at onset, poussè frequency, interval between the first two relapses, initial symptomatology. Regression analysis technique and covariate analysis have been used versus the latest Expanded Disability Status Scale of each patients. Onset at younger age and a longer interval between the first two episodes have resulted statistically significant for a more favourable prognosis.

Antigenic similarities among rodent urinary tract glycoproteins.

Urinary glycoconjugates (glycosaminoglycans, glycoproteins, mucopolysaccharides) have been postulated as the natural defense mechanisms which prevent urinary tract infections. As a direct approach to establish the validity of this hypothesis, we have prepared a glycoprotein fraction (GP1) from rabbit bladder mucosal tissue and shown that it may be involved in the prevention of bacterial adherence. Immunohistochemical studies using fluorescence have demonstrated that murine antibodies raised to rabbit GP1 can be used as a semiquantitative index of glycoprotein production.

Myocarditis and cardiomyopathy: diagnosis by endomyocardial biopsy.

Unlabelled: To investigate the incidence of myocarditis, 30 patients, with unexplained congestive heart failure, underwent endomyocardial biopsy. For each case three to five samples were examined on light and electron microscopy. Inflammatory infiltrates and injury to adjacent myocytes consistent with myocarditis were detected in 3 of the 30 cases (10%).

A new technique for hemodilution, preparation of autologous platelet-rich plasma and intraoperative blood salvage in cardiac surgery.

We have developed a new system for the production of autologous platelet-rich plasma and red blood cell concentrates to be used in autologous transfusion support of cardiac surgery patients. In 15 operations no homologous blood products were required. Costs were diminished since with the same harness it was possible to carry out the intraoperative blood salvage and concentrate the erythrocytes contained in the oxygenator and its lines.

Alterations of red blood cell proteolysis in favism.

Damaged RBC drawn from favic patients during acute hemolysis showed marked alterations in their two major proteolytic systems. Cytosolic procalpain (i.e.

Oxidative inactivation of the calcium-stimulated neutral proteinase from human red blood cells by divicine and intracellular protection by reduced glutathione.

Calpain, the micromolar Ca2+-requiring form of Ca2+-stimulated neutral proteinase purified from human red cells, is remarkably inactivated during autoxidation of divicine (2,6-diamino-4,5-dihydroxypyrimidine), an aglycone implicated in the pathogenesis of favism. Inactivation of purified calpain is produced, in decreasing order of efficiency, by transient, probably semiquinonic species arising from autoxidation of divicine, by the H2O2 that is formed upon autoxidation itself, and by quinonic divicine, respectively. Purified procalpain, the millimolar Ca2+-requiring form that can be converted to the fully active calpain form by a variety of mechanisms, is less susceptible than calpain itself to inactivation by the same by-products of divicine autoxidation.

Effect of nerve growth factor on glucose utilization and nucleotide content of pheochromocytoma cells (clone PC12).

The effect of nerve growth factor (NGF) on the utilization and fate of uniformly labeled 14C glucose and on the content of several pyridine and purine nucleotides has been tested in the clonal cell line PC12. After incubation for 72 h with NGF, PC12 cells exhibit a 2.7-fold increase in glucose utilization and a 4.

Calcium-induced alterations in the levels and subcellular distribution of proteolytic enzymes in human red blood cells.

Human red cells were treated with 100 microM Ca2+ and ionophore A 23187. This treatment induces remarkable changes in the activities of the two major proteolytic systems of red cells, i.e.

Hexose monophosphate shunt-stimulated reduction of methemoglobin by divicine.

Reduced divicine (2,6-diamino-4,5-dihydroxypyrimidine), an aglycone implicated in the pathogenesis of favism, reduces methemoglobin efficiently in intact erythrocytes and in hemolysates. Oxidized divicine produces the same effect when glucose or an NADPH-generating system is added to intact erythrocytes or to hemolysates. Although NADPH, NADH, and GSH have no direct methemoglobin-reducing activity in vitro, they convert oxidized divicine to the reduced hydroquinone species, which is responsible for the electron transfer to methemoglobin.

[Acute dissection of the thoracic aorta. Proposal of a new surgical technic].

Acute aortic dissection is a challenging surgical disease. Replacement of the supracoronary aorta alone can be followed by recurrent aneurysm formation at the level of the residual aortic root. The Bentall procedure prevents this late complication but intraoperative haemorrhage may be severe and valve replacement is always mandatory.

[Usefulness of the Doppler velocimetry in patients undergoing direct arterial surgery].

Two patients with an atypical and particularly troubled history, due to numerous direct and indirect interventions of vascular surgery, have been monitored in haemodynamic investigation using only Doppler velocimetry. The use of angiography would have necessitated other general anaesthesiae which would have further compromised the already critical conditions of the patients. Doppler velocimetry proved suitable for surgical indication in emergency situations.

[Analysis of comments on 26 cases of biliary ileus].

The Authors describe a case of gall-stone ileus complicated by a bowel perforation they had the chance to observe. They have treated it surgically with success. Starting from this clinical care, they have analysed the cases of gall-stone ileus in their department in these last ten years, then they have looked over the literature and the draw conclusions concerning diagnosis, time of hospitalisation and a surgical treatment and the levels where occlusions occur more frequently.