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V Gabutti

Publications and source records attributed to V Gabutti.

62 records · Page 4Linked to original sources
PubMedDate not supplied

Hematological studies in children with Down syndrome.

Previous studies have reported erythrocyte macrocytosis in adults and children with Down syndrome (DS), the significance of which remains unclear. We compared hematological parameters of 50 DS children aged 2 to 15 years, divided into three age groups, with those of 68 aged-matched healthy children. Patients with DS had a significantly increased mean corpuscular volume (MCV) and hemoglobin in all groups when compared with the controls. Erythrocyte creatine content, hexokinase (Hk) activity, erythrocyte and serum folates, vitamin B12, haptoglobin, serum iron, and ferritin were tested. All of these parameters were not significantly different from those of the control group. We conclude that macrocytosis may not be an expression of reduced red cell survival but rather of an altered folate remethylation pathway, secondary to enhanced cystathionine beta-synthase (CBS) activity, the gene for which is present on chromosome 21.

Adolescent↗
PubMedDate not supplied

[Bone marrow aplasia].

Aplastic anaemia is a haematological syndrome in which pancytopenia is due to a depletion, damage of inhibition of hemopoietic stem cells. The pathogenetic factors are still unclear: damage or inhibition of hemopoietic stem cells may be direct or indirect mediated through changes in the cellular humoral environment; evidence is accumulating that in some cases these processes are of autoimmune nature. The prognostic evaluation is based on hematological parameters at diagnosis: severe aplastic anemia (SAA) is defined by the following criteria: neutrophils less than 0.5 X 10(9)/l; reticulocytes less than 0.5 X 10(9)/l and platelets less than 20 X 10(9)/l. Survival rates in children with SAA are poor; the probability of survival at 1 year from diagnosis being 10%. In this form treatment is based on supportive therapy (transfusion and prevention of infections) and on a specific therapy: immunosuppression and/or BMT. BMT is reserved to patient with an HLA identical sibling donor and may be curative in 70-80% of cases. To date the use of antilymphocytoglobulin in SAA has also given satisfactory results with a favorable response in 50-60% of cases.

Anemia, Aplastic↗
PubMedDate not supplied

[Evaluation of iron overload in thalassemia].

The aim of the paper is to assess the value of a series of clinical and laboratory indices used in determining the degree of iron overload in homozygous beta-thalassaemic patients. 155 thalassaemic patients of different age in chelation with subcutaneous infusions of desferrioxamine for a period of 2-7 years have been studied. Calculation of the total iron accumulated and the iron load per kg of body weight in patients undergoing chelation requires an exact knowledge of their compliance and faecal and urinary iron elimination, and is clearly open to many errors. Despite this, usefull information can be derived from its determination. We have found, for example, that serious organ damage tends to appear when iron accumulation exceeds 1 g/kg. In addition, the serum ferritin and the evaluation of the growth have been proved to be the most important and helpful indices for checking the effectiveness of the chelation therapy and forecasting the appearance of the serious complications as diabetes or hypothyroidism.

Adolescent↗