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Biomedical subjects

F Schettini

Publications and source records attributed to F Schettini.

At least 37 records · Page 2Linked to original sources
PubMed1989

[Monosomy 5 (-5), deletion of the long arm of chromosome 6 (6q) and acquisition of a chromosome 21 (+21) in a boy with acute leukemia at high-risk].

The chromosomal abnormality 6q-, associated with acute lymphatic leukemia, is often found both in T cell form and in non T non B cell forms. The absence of chromosome -5, frequently associated with acute non-lymphatic leukemia of the adult, has been rarely found in the acute non-lymphatic leukemia of the child. Trisomy of chromosome 21 is the most associated with acute non-lymphatic leukemia of the adult, has been rarely found in the acute non-lymphatic leukemia of the child. Trisomy of chromosome 21 is the most frequent alteration found in children and adult with acute lymphatic leukemia. In a child (aged 7) affected by acute lymphatic leukemia the karyotype analysis showed simultaneously the presence of the 3 above mentioned abnormalities. It will be important to evaluate later on how the association of monosomy 5 with the deletion of chromosome's 6 long arm and with an acquired chromosome 21, the last two being indexes of a favourable prognosis, can influence the clinical course of the disease.

Child↗
PubMed1989

[Bone metabolism in thalassemic children with multiple transfusions. Compartmental analysis of 99mTc-Sn-MDP kinetics].

The kinetics of 99mTc(Sn) methylene diphosphonate [99mTc(Sn)MDP] were evaluated by means of compartmental analysis in 5 normal children and 17 thalassemic subjects. Blood and urine activity were analyzed with a computer program which generates intercompartmental rate constants by an iterative least-square method providing a best-fit to the input data. The amount of tracer in each compartment (corrected for decay) was determined as a function of time. The transfer rate of 99mTc(Sn)MDP from blood to extracellular fluid and lamellar bone (K1-3) was about 20% higher in thalassemic subjects than in normal children. The transfer rate of 99mTc(Sn)MDP from blood to woven bone (K1-4) was about 57% higher in thalassemic subjects. A faster rate of spread into woven bone appears to be the major cause of higher bone uptake of 99mTc(Sn)MDP in thalassemic subjects, which suggests that in these patients bone tissue reoccupies the space previously replaced by hyperplastic marrow. Moreover, the increased bone extraction rate revealed a correlation between anemia and bone metabolic activity.

Adolescent↗
PubMed1989

[Clinico-immunologic evaluation of a trivalent vaccine against measles, rubella and mumps].

Prevention of measles, mumps and rubella can be obtained by a single administration of a trivalent vaccine as it has already been practiced in the U.S.A. since 1970 in the Scandinavian Countries since 1982. The immunological response and the clinical reactions to a new trivalent vaccine (Triviraten-Berna) against measles, mumps, and rubella has been studied in a control group including 41 children (20 females and 21 males) aged from a minimum of 16 months to a maximum of 7 years and 4 months. All the children who resulted not to be immune to the 3 viruses by serologic tests showed a rise in the antibody titer with 100% seroconversion, whereas in those resulting to be already immune to one of the 3 viruses, a persistent antibody titer or an increase was revealed. Neither general nor local clinical reactions were observed. These results suggest that this trivalent vaccine is highly effective, without negative effects and helpful for a mass prevention of such viral diseases.

Child↗
PubMed1989

[Pediatric suspensions of amoxicillin and clavulanic acid in the treatment of bacterial infections of otorhinolaryngologic importance and the upper respiratory tract].

Thirty children, 20 males and 10 females, aged 6.57 +/- 0.78 on the average (range: from 13 to 6 months), weighing 21.60 +/- 2.25 kg with bacterial infections of the upper respiratory tract and ear were admitted to the present trial. A chemotherapeutic agent based on amoxycillin and clavulanic acid in the suspension for children of 312.5 mg/5 ml (4:1 ratio) at the dosage of about 17 mg/kg in two daily administrations according to the weight of the patients was used. The therapy was prolonged for 8.87 +/- 0.30 days on the average, from a minimum of 3 to a maximum of 11 days. In the course of the treatment the symptom parameters and the objective signs progressively reduced until disappearance; the body temperature came promptly back to normal values, confirming the definite improvement and the regression of the infectious pictures. The microbiological data also fully confirmed the successful activity of the chemoantibiotic drug used. No side effects were found and, as regards local and general tolerance, no signs of an even slight impairment related to the administration of the drug were found. The final judgement expressed on the efficacy, on the basis of the more or less quick and complete symptom regression, evolution of the infectious picture and good tolerance were the following: excellent in 22 cases, good in 6, fair in 1 and not able to be evaluated in 1 case (a female patient who left off the trial).

Adolescent↗
PubMed1989

Reconstitution of normal neutrophil function in chronic granulomatous disease by bone marrow transplantation.

Allogeneic bone marrow transplantation was carried out on an 11-year-old boy with chronic granulomatous disease and severe chronic pulmonary insufficiency of restrictive type. After preparative regimen with busulfan (13 mg/kg) and cyclophosphamide (200 mg/kg), the patient received marrow cells from his HLA-identical and MLC-nonreactive sister. Durable sustained engraftment of donor hematopoietic and lymphoid populations occurred, as documented by analysis of genetic markers and complete reversal of the neutrophil function defect. No episode of infection occurred in the post-transplant course and, currently, 40 months after transplantation the patient is in excellent health and growing normally and showing an increasing improvement of his respiratory capacity. The successful outcome in this patient demonstrates that marrow transplantation is at present the only curative approach for this congenital disorder of neutrophil function.

Adolescent↗
PubMed1988

Problems in prenatal diagnosis of beta-thalassaemia by fetal blood analysis: beta-chain variant comigrating with gamma chains.

This report describes a couple at risk for beta-thalassaemia in which one spouse was heterozygous for classical high Hb A2 beta-thalassaemia while the other had the compound heterozygous state for beta+-thalassaemia and a beta-chain variant. This variant comigrates on carboxymethyl-cellulose columns (CMC) with gamma-chains, indicating that globin separation on CMC columns could not have been used for fetal diagnosis. The beta-chain variant migrates separately from the other globin chains on HPLC and the respective abnormal haemoglobin can be separated by isoelectrofocusing. Oligonucleotide hybridization showed that both parents were carriers of the beta+ IVS-1, nt 6 mutation. Prenatal diagnosis was successfully accomplished by oligonucleotide analysis on trophoblast DNA. This case indicates that an Antenatal Service should have alternative methods to CMC columns so as to carry out prenatal diagnosis of beta-thalassaemia in uncommon cases.

Blood Protein Electrophoresis↗
PubMed1987

Coagulation contact phase factors and inhibitors in beta-thalassemia major children.

Selected hemostatic parameters of 23 children affected by beta-thalassemia major were studied and compared to an age- and sex-matched group. Plasma prekallikrein level was reduced in all patients, splenectomized or not. In splenectomized patients, platelet count and in vitro platelet aggregability were significantly increased and Protein C was slightly increased. The activated partial thromboplastin time was prolonged and the normotest reduced. Finally, a reduction in the plasma levels of fibrinogen and of vitamin K-dependent proteins, including the antithrombotic Protein C, was observed in nonsplenectomized patients. Our data indicate that the hemostatic system in patients with thalassemia major may be altered. The relationship between these laboratory changes and clinical manifestations remains to be established.

Adolescent↗
PubMed1987

Neonatal diabetes mellitus: evaluation of pancreatic beta-cell function in two cases.

Two cases of neonatal diabetes mellitus, a transient form and a permanent form, are described. Comparing their clinical presentations and courses, we exclude the possibility of an early differential diagnosis based on clinical or laboratory data. We hypothesize that only repeated dynamic evaluations of pancreatic beta-cell function could be useful to differentiate the two forms.

Blood Glucose↗
PubMed1987

Lymphadenopathy syndrome and HIV infection in multitransfused beta-thalassemia child.

Lymphoadenopathic Syndrome (LAS), diagnosed also with histologycal studies, is described in a polytransfused 11-year old boy affected by beta-thalassemia major. After three days of the admission he suffered a serious acute diarrhea by Aeromonas hydrophila, an opportunistic enteric bacteria demonstrated, up to date, in immunocompromised patients and never in AIDS patients. It is important to remark that beta-thalassemic patients are at high risk from HIV infections, either for the chronic need of transfusions and for the impairment of the immunological functions.

AIDS-Related Complex↗
PubMed1986

Cytochrome b and FAD content in polymorphonuclear leucocytes in a family with X-linked chronic granulomatous disease.

Chronic granulomatous disease (CGD), an immunodeficiency syndrome characterized by extreme susceptibility to bacterial infections, is due to a defect of the respiratory burst in human phagocytes. NADPH oxidase, the enzyme that catalyzes the reduction of oxygen and the release of oxidative radicals, was studied in polymorphonuclear leucocytes (PMNs) in a family affected by an x-linked inheritance form at high penetrance of the disease. The contents of cytochrome b, suggested as the terminal component of the oxidase electron transport chain, and FAD, the hypothetical proximal component of the chain, were determined in patients and in carriers. Cytochrome b showed the typical behaviour of x-linked CGD: total absence in patients, intermediate values in carriers. FAD content evaluated on plasma membranes was less decreased than cytochrome b. Carriers also showed a decrease of this flavoprotein. Cytochrome b and FAD contents were compared to NBT test and superoxide production: a clear correlation was observed for the cytochrome b, but FAD plasma membrane evaluation could also be an interesting tool for the metabolic characterization of the disease in patients and in carriers.

Adult↗
PubMed1985

Post-natal development of protein C in full-term newborns.

The purpose of this study was to determine the concentration of Protein C in the blood of full-term healthy newborns. The levels of Protein C, evaluated by electroimmunoassay, were low in the first 5 days of life and lower than the critical adult thrombotic level. The antigenic activity increased progressively from the 2nd week of life and the adult values were reached after the 6th month. The reduction of Protein C levels may impair the ability of the newborn to control consumptive disorders, thus exposing the infants to the risk of thrombotic conditions in neonatal age.

Age Factors↗
PubMed1984

Endocrine involvement in children with beta-thalassaemia major. Transverse and longitudinal studies. I. Pituitary-thyroidal axis function and its correlation with serum ferritin levels.

Thyroid function was investigated by a TRH test in 24 clinically prepubertal children, 3-15 years old with beta-thalassaemia major; in 7 of them the test was repeated once and in 2 twice at intervals of at least 12 months. Basal T4, T3, TBG and TSH levels and the TSH levels during a TRH test were determined and correlated with age and serum ferritin levels. Basal serum T4, T3 and TBG levels were lower and serum TSH levels were higher during the test and in the basal state in thalassaemia major children than in control children. These results show a compensated sub-clinical primary hypothyroidism. The transversal study did not show any significant correlation between the hormonal parameters studied and chronological age or serum ferritin levels. In contrast, the longitudinal study showed a significant correlation between pituitary-thyroidal axis function and siderosis (positive correlations between the variations of TSH levels as delta, peak, 30 and 45 min values and the variations of serum ferritin levels). The thyroid impairment seems not to be correlated with serum ferritin levels in the transversal study because of the presence of an individual different sensitivity of the gland to the iron overload. The ferritin dependence of this impairment is shown only by longitudinal studies where individual differences in sensitivity of the gland are absent.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1984

[Longitudinal echocardiographic evaluation in children with thalassemia major].

We report the results of a longitudinal echocardiographic survey on 15 children with thalassemia major, who had received multiple transfusions. The average interval between the two examinations was 2.9 +/- 0.7 years. At the second examination the mean hemoglobin (Hb) level for the group was higher because of the increased number of transfusions. During the same period of time the chelating treatment with desferrioxamine was administered subcutaneously instead of intramuscularly. The following echocardiographic parameters have been measured: left ventricular dimension, diastolic (LVDd); left ventricular dimension, systolic (LVDs); septal thickness, diastolic (STd); free wall, diastolic (FWd); left atrial dimension (LAD); aortic root (AoR); fractional shortening (FA); velocity of circumferential shortening (VCF). At the first examination 6 patients had abnormal values of LVDd, STd and AoR; 10 subjects had increased LAD; the mean Hb levels of the patients with abnormal STd and LAD was significantly lower than in normals (p less than 0.05 and less than 0.01 respectively). At the second examination 8 patients had abnormal LVDd values and 7 had increased LAD. Only the patients with increased LVDd had lower Hb values. Patients with increased LAD had received more transfusions. The following functional parameters were found to be decreased at the second study: FA (29 +/- 3.3 vs 32.6 +/- 7; p less than 0.05); VCF (1.16 +/- 0.25 vs 0.99 +/- 0.14; p less than 0.05). From the results it appears that the change of treatment improved some parameters (STd, AoR, LAD), but was unable to arrest the deterioration of the LV contractile efficiency.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗