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Biomedical subjects

S Musumeci

Publications and source records attributed to S Musumeci.

At least 91 records · Page 5Linked to original sources
PubMed1983

Unusual combination of genetic defects in a Sicilian family: beta-thalassaemia, haemoglobin Lepore Boston-Washington and heterocellular hereditary persistence of fetal haemoglobin.

This paper reports a Sicilian family in which beta-thalassaemia, haemoglobin Lepore Boston-Washington and heterotocellular hereditary persistence of fetal haemoglobin (HPFH) were present in various combinations. The most interesting combination was that of Hb Lepore and heterocellular HPFH, which has not been previously reported. This subject was clinically normal, with the haematological picture of Hb Lepore trait and an unusually high level of HbF due to an increased number of circulating F cells.

Adult↗
PubMed1983

Serum IgE in polytransfused thalassemic patients.

Serum IgE was determined by radioimmunoassay in 28 subjects affected by homozygous beta thalassemia (14 males and 14 females, aged 3-19 years, mean age 7 +/- 5.6 years). They were given transfusions with packed red cells and chelant therapy. Blood samples were taken just before a transfusion (basal value) and at 10-day intervals (2-3 times) between transfusions. Serum IgE values were significantly increased in the thalassemic patients as compared with the control group. There was no relation between IgE and age, sex, skin allergy, familial atopy and splenectomy. Serum IgE was significantly higher in 7 subjects with a history of febrile non-hemolytic transfusion reactions. In the intertransfusional period there was a further serum IgE increase, which was statistically significant only in the older patients.

Adolescent↗
PubMed1983

delta beta-Thalassaemia in Sicily: report of a case of double heterozygosity for A gamma delta beta-thalassaemia and A gamma G gamma delta beta-thalassaemia.

A case of double heterozygosity for A gamma delta beta-thalassaemia and A gamma G gamma delta beta-thalassaemia was found during a screening programme in Sicily. The proband, a 4-year-old girl, showed a clinical picture of thalassaemia intermedia. Hb F (85.12% by the Singer method) was G gamma A gamma type. The parents and the brother were delta beta-thalassaemia carriers. Structural analysis of Hb F showed both G gamma and A gamma chains in the father, but only A gamma chains in the mother.

Blood Protein Electrophoresis↗
PubMed1983

Lymphocyte changes in favism: in vitro evidence of a modifying effect of bilirubin and hemoglobin on T-lymphocyte receptors.

Lymphocyte subpopulations were studied in 13 Sicilian glucose-6-phosphate dehydrogenase (G6PD)-deficient children during and after the hemolytic crisis due to fava bean ingestion. A statistically significant reduction of sheep-red-cell (SRC)-rosetting lymphocytes occurred in all patients during the hemolytic crisis, whereas B lymphocytes were not affected. In order to establish the possible relationship between serum changes occurring during hemolysis and reduction of SRC-rosetting lymphocytes, the effect in vitro of varying concentrations of bilirubin and hemoglobin on the rosette formation capacity of lymphocytes was studied. Both substances produced a statistically significant reduction of SRC-rosetting lymphocytes both in normal and deficient subjects. This effect showed a direct relationship with the concentrations of bilirubin and hemoglobin used and was more pronounced on lymphocytes from G6PD-deficient children. These data suggested that the reduction of SRC-rosetting lymphocytes observed during acute hemolysis of favism can be related to a modifying effect of bilirubin and hemoglobin.

Bilirubin↗
PubMed1981

Haemoglobin synthesis in bone marrow of patients with beta O and beta +-thalassaemia.

Haemoglobin synthesis was studied in bone marrow erythroblasts and in reticulocytes of 4 children with beta O-thalassaemia major and of 7 children with beta +-thalassaemia major. In patients with beta O-thalassaemia the gamma/a ratio was found to be lower in bone marrow than in peripheral blood. On the contrary, in patients with beta + thalassaemia the beta + gamma/a ratio was more balanced in bone marrow, where the beta-chain synthesis was higher, than in reticulocytes. This last result could be explained by the presence of an abnormal m-RNA for beta-chains in beta +-thalassaemia.

Bone Marrow↗
PubMed1981

A radio-isotopic investigation of the morphological and functional changes in pathological conditions of the synovial membrane of the knee joint.

Patients with hydrarthrosis of the knee, whatever its origin, always exhibit a change in synovial permeability. This can be detected by scintigraphy (visualization of the site and extent of the hydrarthrosis) and scintimetric investigation. In the present study, patients with hydrarthrosis of the knee of a degenerative, inflammatory or traumatic origin, received an appropriate dose of 99mTc pertechnetate, and a gamma camera was used as the detector. At the same time a scintimetric study was carried out to provide a quantitative assessment of the rate of absorption of the radio-isotope. This indicates the functional state of the synovial membrane. The results of these investigations are of value both in diagnosis and in treatment.

Humans↗
PubMed1980

Transient increase of fetal haemoglobin in kala-azar.

Haemoglobin F (HbF) levels were significantly increased in 40 children with kala-azar in comparison with controls (3.36 +/- 2.32 versus 0.90 +/- 1.8; P < 0.01). The HbF was heterogeneously distributed among the red blood cells. The glycine residue of peptides gamma CN3 were within the normal umbilical cord blood range, and the haemoglobin synthesis in vitro was balanced. After recovery from kala-azar the HbF fell within the normal range. These results suggest that increased production of HbF is associated with accelerated erythropoiesis due to temporary marrow stress.

Child↗
PubMed1980

Accidental glibenclamide ingestion in an infant: clinical and electroencephalographic aspects.

The clinical and EEG features of an infant during and after a severe episode of glibenclamide-induced hypoglycaemia are reported, with a 12-month follow-up. The very few cases reported in the literature, together with the present report, suggest that the neurological sequelae of severe hypoglycaemia resulting from ingestion of this drug are due to more patchy involvement of the central nervous system than would be expected from experimental work on hypoglycaemia.

Cerebral Cortex↗
PubMed1980

Elevated Hb F associated with beta-thalassaemia trait: haemoglobin synthesis in reticulocytes and in blood BFU-E.

The red cells of a patient heterozygous for beta-thalassaemia contained 19% fetal Hb. Study of his family suggested that the proband had inherited the Swiss type of hereditary persistence of fetal Hb (HPFH) from his mother who is not thalassaemic and possessed 1.37% of Hb and 11% F-cells. Studies of globin synthesis showed a similar imbalance in the heterocellular HPFH-beta-thalassaemia compound heterozygotes and in the heterozygous beta-thalassaemic members of the family. Age stratification of the red cells showed a slight enrichment in Hb F and a decreased Hb A2 level in the older cell populations. Hb F production in the BFU-E colonies of the proband was higher than that found in vivo and in other beta-thalassaemic heterozygotes in culture. Study of single erythroid burst colonies showed a marked heterogeneity in Hb F synthesis from one colony to another, while the pool of free alpha-chains remained of similar magnitude. It is suggested that in the proband, the HPFH gene, which is in trans with respect to the beta-thal-gene, increases the size of the F-cell population and its activity is carried on at the expense of the normal beta A gene.

Cells, Cultured↗