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Biomedical subjects

G Fiorelli

Publications and source records attributed to G Fiorelli.

At least 271 records · Page 15Linked to original sources
PubMedDate not supplied

Hereditary spherocytosis (HS) due to loss of anion exchange transporter.

BACKGROUND: Hereditary spherocytosis encompasses a heterogenous group of inherited disorders due to alteration of r.b.c. surface/volume ratio. Spectrin deficiency is the most common observed defect. We analyzed a case of HS associated with band 3 deficiency without spectrin reduction. METHODS: In the study of a family originating from southern Italy, we show that a 20% deficiency of band 3 with normal spectrin content may be responsible for dominantly inherited hereditary spherocytosis (HS). The proband is a 12 years old girl consulting for jaundice, chronic anaemia and splenomegaly. Her mother had a similar haematologic phenotype. RESULTS: Electrophoretic analysis of erythrocyte membrane proteins showed a deficiency in band 3 protein. Band 3 protein chymotryptic fragments, deglycosylated band 3, and its isolated cytoplasmic domain, all displayed normal electrophoretic migrations. Furthermore, the tryptic peptides profile of the cytoplasmic domain of the protein did not demonstrate any abnormality, nor did the amino acid composition of the peptides. Analysis of the membrane proteins during erythrocyte ageing, evaluated in density-fractionated red cells, showed that band 3 content was normal in the lighter fraction, whereas in the denser fraction band 3 deficiency was more pronounced than in membranes from non fractionated red blood cells. CONCLUSIONS: This case describes HS due to anion exchange transporter deficiency. Our results on fractioned red cells support the hypothesis that the defect was probably due to a band 3 protein loss during cell ageing and not to a primitive quantitative defect.

Adult↗
PubMedDate not supplied

[Biomechanical fundamentals in the use of the transpalatal bar and the lingual arch].

The Authors deal systematically with the transpalatal bar and lingual arch biomechanics. Particularly passive applications are distinguished from active ones. The Authors propose a classification of active applications based on the activation order (first, second, third), on the kind of biomechanics of the system (statically determinate or indeterminate) and on the symmetry or asymmetry of the activation. Every group of this classification is then analysed in detail.

Biomechanical Phenomena↗
PubMedDate not supplied

Iron metabolism in thalassemia intermedia.

Iron overload is frequently present in patients with thalassemia intermedia, and it becomes evident mainly after the second and third decades of life. The degree of the iron load is heterogeneous ranging from mild to severe. In this study we evaluated the iron status of 38 adult patients with thalassemia intermedia and we looked for factors possibly related to the observed heterogeneity of the iron status. The levels of transferrin saturation (TS), serum ferritin (SF) and desferrioxamine-induced urinary iron excretion (DFU) were spread in a wide range from normal to markedly increased. These indices did not correlate with other parameters such as age, hemoglobin levels and entity of the erythropoietic status. A significant difference in the degree of iron overload was observed between patients who underwent splenectomy and non-splenectomized patients. TS, SF and DFU were significantly higher in splenectomized than in non- splenectomized patients, indicating that the spleen could have a role in the regulation of iron metabolism in these patients.

Adolescent↗
PubMedDate not supplied

Prevalence of idiopathic hemochromatosis in Italy: study of 1301 blood donors.

Idiopathic hemochromatosis (IH) was considered a rare hereditary disease until population studies in the U.S.A. and Northern Europe indicated an unexpectedly high frequency. In this study we estimated the prevalence of IH in Italy by testing 1301 presumably healthy blood donors. Transferrin saturation (TS) and serum ferritin (SF) levels were used as screening methods. The subjects with TS greater than 50% and/or SF greater than 300 micrograms/l in men and greater than 160 micrograms/l in women were given a complete medical and laboratory examination and those with evidence of iron overload were asked to undergo liver biopsy. Five male donors but no female donors presented increased iron indexes. Diagnosis of homozygous IH in two of them was confirmed by liver biopsy, indicating a prevalence of the disease in this population of 0.2%; that is a gene frequency of 4.5% and a heterozygote frequency of 9%. Since our study might underestimate the true prevalence of the disease because blood donors are at high risk of iron depletion, IH could be one of the most frequent hereditary diseases in Italy. Large-scale screening of young adults based on TS and SF determinations should be proposed for early diagnosis and treatment.

Adolescent↗
PubMedDate not supplied

Alterations of pineal gland and of T lymphocyte subsets in metastatic cancer patients: preliminary results.

Melatonin (MLT), the main hormone produced by the pineal gland, has been seen to play a role in antineoplastic activity either by exerting a direct inhibitory effect on cancer cell growth, or by stimulating the immune system. Moreover, MLT blood levels have been shown to be often increased in cancer patients. On the basis of these data, a study was started to evaluate what relation exists between MLT levels and T lymphocyte subsets in patients with metastatic solid neoplasm. The study included 28 patients (breast: 10; non-small cell lung: 18). None of the patients was previously treated for their metastatic disease. Abnormally high MLT levels and a low T helper/suppressor ratio (CD4/CD8) were seen in 10/28 and in 11/28 patients, respectively. Serum mean levels of MLT were significantly higher in patients with low CD4/CD8 ratio than in those with a normal ratio. These results would suggest that immune dysfunctions may represent a signal for MLT release from the pineal in patients with metastatic solid neoplasm.

Adult↗
PubMedDate not supplied

Effects of cancer chemotherapy on the relation between serum levels of soluble interleukin-2 receptors and CD4/CD8 ratio in patients with solid neoplasms.

The clinical significance of sIL-2R in solid tumors has still to be clarified. To further define the biological role of sIL-2R in cancer and their relation to chemotherapy, we have measured serum levels of sIL-2R and CD4/CD8 ratio in 45 patients with limited or metastatic solid tumor, 28 of whom had never received chemotherapy, whereas the other 17 had been previously treated with chemotherapy. sIL-2R were significantly higher in metastatic cancer patients than in the non-metastatic ones, while no difference was seen between patients treated and untreated with chemotherapy. Within the untreated group, sIL-2R mean values were significantly higher in patients with low CD4/CD8 ratio than in those with the normal one, while an opposite behavior was seen in patients previously treated with chemotherapy. The present study shows that cancer chemotherapy influences the release of sIL-2R and its relation to T lymphocyte subpopulations.

Adult↗
PubMedDate not supplied

[Nasal respiratory stenosis and maxillary hypoplasia. Changes after orthodontic treatment with rapid palatal expansion].

The relationship between hypoplasia of the upper maxillary bone and nasal respiratory insufficiency in a group of twenty infants with malocclusion being treated by rapid maxillary expansion (RME) were studied. Prior to treatment all patients presented endognatia with discrepancies of from -4 to -7 mm in the transverse basal skeleton. These were often associated with adenoid hypertrophy (70% of the cases), increased total nasal resistance (70%), oral respiration (80%) and middle ear diseases (30%). RME led to resolution of occlusion alterations in all cases and often also brought about a regression in adenoid hypertrophy (57% of the cases), normalization of the total nasal resistance (70%) and respiration (80%). These effects were achieved alone without association with any other form of medical or surgical E.N.T. treatment. The functional results confirmed by the radiological and clinical findings indicate an increase in the diameters of the nasal fossa and in the distance between the canines, between premolars and between molars as well as reduction in adenoid vegetation and in the diffuse hypertrophic tissues lining the naso-pharyngeal space. Nonetheless, hypoplasia of the upper maxillary bone and nasal respiratory insufficiency remain strictly linked and are bound to a variable, and at times uncertain, cause-effect relationship. Is nasal stenosis the moving force of maxillary-mandibular dysmorphism and gnatological dysfunction or does it result from an overall genetic conditioning of facial skeleton development? During their vast experience in adenoid and metadenoid pathologies in infancy the authors have, at times, observed significant maxillo-facial dysmorphisms. They have likewise found that "facies adenoidea" were not always associated with hypertrophy of the pharyngeal tonsil.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗