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Biomedical subjects

F Schettini

Publications and source records attributed to F Schettini.

103 records · Page 6Linked to original sources

Postnatal development of prekallikrein (Fletcher factor) in man.

The aim of the present study was to determine the concentration of plasma prekallikrein in healthy infants during the first year of life. Prekallikrein levels evaluated by a chromogenic substrate assay were low in the first 15 days of life and increased progressively from the third week of life, reaching normal adult values after the third month of life. The low levels of prekallikrein during the neonatal age reflect the impaired ability of liver cells to synthesize proteins.

Adult

rhG-CSF in severe chronic neutropenia: successful intermittent treatment in three infants.

We report three cases of infants affected by severe chronic neutropenia (SCN). All the patients were treated with recombinant human granulocyte colony-stimulating factor (rhG-CSF) to avoid or reduce recurrent fevers and severe infections. In order to obtain better compliance and reduce the costs of long-term therapy while achieving the same effectiveness of therapy, we decided to evaluate intermittent treatment in patients with SCN. With a single dose of 3-10 micrograms/kg/d subcutaneously every 3-7 days, the patient attained an absolute neutrophil count (ANC) of 0.5-1.5 x 10(9)/L, a reduction of infections, and no notable side effects.

Chronic Disease

[Multicenter study of serum ferritin assay for the surveillance of subjects at risk of iron deficiency].

A multicentre study was carried out in a sample population of healthy volunteers in order to assess the usefulness of assaying serum ferritin to monitor the extent of reserves in subjects with a risk of iron deficiency. A total of 317 subjects were included in the study. Ninety-nine were children with a mean age of 19 months, 121 were adolescents with a mean age of 18 years and 7 months, and 97 were women with a mean age of 28 years and 9 months. Levels of serum ferritin below the normal minimum levels for each age bracket, an indication of the exhaustion of the body's reserves, were found in 29% of children, 32.2% of adolescents and 27.8% of women. This study therefore confirm the frequent onset, even in our modern society, of iron-deficient states at particular times of life and that these are easily overlooked. The measurements of serum ferritin levels, in addition to being a confirmatory test in cases of suspected sideropenic anemia, has the peculiar characteristic of being the only test able to identify risk subjects before they become symptomatic. This enables rapid treatment to be commenced or better, efficient prevention.

Adolescent

[Oromaxillofacial changes in thalassemia major].

Sixty patients (31 male and 29 female) with thalassemia major, aged between 6 and 26 years, 18 of which were splenectomized, were observed in this study evaluating the oro-maxillo-facial alterations and correlating them to transfusion indexes, serum ferritin levels, splenectomy and age. For each patient a haematologic and odontostomatologic card was filed with a view to report the medical and clinical history regarding: the haematologic picture, the prevention of caries and parodontal disease, the facies characteristics, the odonto-stomatologic examination, the orthodontic diagnosis, the skull X-rays and the orthopantomography. Poor oral hygiene as well as misknowledge of prevention were generally observed. All the patients showed carious lesions but most of them had never seen a dentist for therapy. The disharmonious growth of splanchnocranium, with the enlargement of the jaw and of its alveolar process, induced by the bone marrow hyperplasia, produced various and serious malocclusion stages (Angle's II class, deep bite, open bite), gnathologic alterations, hypodiaphanous paranasal sinuses and orbital hypertelorism, with a typical oriental-like facies. Malocclusion and the poor oral hygienic conditions determined the occurrence of marginal gingivitis, mainly localized at the level of the lower frontal teeth. In only 3 patients the oral mucous membrane was pale and atrophic. During this investigation agenesia and dental retention were reported in 30% and in 26% of the examined cases respectively, while no patients had supernumerary teeth. Tooth volume, position and shape abnormalities rarely occurred. Only in two patients was enamel hypoplasia described. The caries frequency greatly varied in number and in degree. Only five patients did not show any carious lesions. The caries index (DMF) for the permanent teeth calculated in all the 60 subjects was 5, 12 +/- 4.76. By utilizing Spearman's rank test the number of teeth with caries in the permanent dentition (DFM) and in the mixed dentition (DFM + dmf) was correlated to the average value of ferritin, with the ferritin peak, with transfusion requirements and with the age of the patient at the date of the clinical examination. A significant inverse correlation was therefore demonstrated between transfusion requirements and caries in the mixed dentition. The chi 2 test was used to assess the different frequency of the caries index (above 5) between splenectomized and non-splenectomized patients. Splenectomy proved to be associated only apparently to the total number of patients with more than 5 caries. Conversely, in the non-splenectomized group the frequency of patients with more than 5 caries was definitely lower. Indeed the overall number of caries in both groups of splenectomized and non-splenectomized subjects, of the same average age, was almost identical. Consequently, splenectomy and the higher number of caries are statistically more probable in individuals affected by thalassemia, of increasing age, without however being mutually correlated.

Adolescent

Resistance to activated protein C as a risk factor of stroke in a thalassemic patient.

It is well known that thalassemic patients exhibit an increased frequency of thrombotic events. Most individuals with resistance to activated protein C (APCR) are the result of a point mutation replacing Arg 506 with Gln in the factor V aminoacidic sequence (factor V Leiden). Recently APCR has been shown to account for up to 50% of cases of thrombophilia. In this report, we describe a 10 year old thalassemic intermedia patient heterozygous for Factor V R506Q who developed a stroke following transfusion. Coagulation laboratory values were all within the normal range and there was no evidence of a lupus anticoagulant. Computerized brain tomography showed an ischemic area in the left temporo-parietal region. At follow-up, plasma from the patient demonstrated APCR and molecular diagnostic testing revealed heterozygosity for factor V R506Q. We suggest that the heterozygosity for factor V Leiden could increase the thrombotic risk in thalassemia intermedia. We believe it may be beneficial to screen all intermedia thalassemic patients for APCR especially before starting a transfusional regimen.

Blood Coagulation Disorders