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Biomedical subjects

S Musumeci

Publications and source records attributed to S Musumeci.

At least 127 records · Page 7Linked to original sources

[Peripheral vascular trauma (author's transl)].

The authors review several existing classifications of traumatic events affecting the peripheral blood vessels; after discussing the symptoms of such events and diagnostic guidelines, they outline therapeutic approaches and emphasize above all the need for prompt surgery with the least possible delay after the injury. They review of cases of their own observation, and conclude by highlighting the basic concepts of modern surgery in this field of pathology.

Accidents, Traffic↗

Fetal haemoglobin in early malignant osteopetrosis.

The characteristics of the fetal haemoglobin (HbF) in two children with osteopetrosis and high levels of HbF have been studied. The structural analysis of the gamma chains demonstrated a fetal Ggamma/Agamma ratio. HbF was distributed inside only 30% of the peripheral red blood cells. In vitro globin chain synthesis studies showed that there was balanced globin chain production, despite the increased level of HbF.

Alanine↗

Thalassaemia of intermediate severity resulting from the interaction between alpha- and beta-thalassaemia.

A Sicilian family is described in which the alpha-thalassaemia gene is interacting in several members with beta-thalassaemia resulting in a balanced alpha/beta chain production ratio. In one patient, affected by homozygous beta-thalassaemia, the presence of alpha-thalassaemia resulted in a less severe clinical expression of the disease, less marked imbalance in the alpha/non-alpha ratio, and a lower level of HbF. Further studies of haemoglobin synthesis are needed to clarify the complex genetic picture that results from the interaction of different forms of thalassaemia.

Child↗

beta-Thalassemia in Sicily: hematological and biosynthetic studies.

The degree of imbalance in beta(0)-Th and beta(+)-Th as well as the frequency of the two forms in Sicilian beta-thalassemic subjects have been studied. The hemoglobin synthesis in Rietti-Greppi-Micheli disease (RGMD) and in the beta-thalassemia trait has also been studied. In an unselected thalassemic population, about 30% have been found to be beta(0)-Th. Both groups of beta(0)-Th and beta(+)-Th showed severe imbalance with alpha/non-alpha ratio of 4.22 +/- 1.88 (SD) and 3.46 +/- 1.36, respectively. This difference was not statistically significant. In RGMD the alpha/non-alpha ratio was 2.12 +/- 0.36 while in the beta thalassemia trait it was 1.76 +/- 0.35.

Child↗

Blood group phenotypes and the origin of sickle cell hemoglobin in Sicilians.

As an approach to investigating the origin of sickle cell hemoglobin (hemoglobin S) in white persons of Sicilian ancestry, two groups of native Sicilians were tested for blood group evidence of African admixture. Among 100 unrelated Sicilians, the phenotypes cDe(Rho) and Fy(a-b-), and the antigens V(hrv) and Jsa, which are considered to be African genetic markers, were detected in 12 individuals. Among 64 individuals from 21 families with at least one known hemoglobin S carrier, African blood group markers were detected in 7 (11%). These findings indicate that hemoglobin S is only one of multiple African genes present in contemporary Sicilian populations. The occurrence of hemoglobin S in white persons of Sicilian ancestry is considered to be a manifestation of the continuing dissemination of the original African mutation.

Black People↗

Leukokinetic studies in Mediterranean kala azar.

Two patients with acute Kala Azar were studied with DF32P (diisopropylfluorophosphate) and three patients with 51Cr (chromate) in an attempt to delineate the mechanism producing neutropenia in this disease. The granulocyte life span was found to be reduced in all the patients with exception of one who was studied during Glucantim treatment. The surface radioactivity counts showed that the reduced granulocyte life span was due to pooling and probable destruction of granulocytes in the spleen and to a lesser degree in the liver. Bone marrow neutrophil reserve, evaluated by the response to the intravenous hydrocortisone hemisuccinate, was found to be markedly reduced in all patients. An enlarged marginal granulocyte pool indicated also that the neutropenia may be due to altered intravascular granulocyte distribution.

Agranulocytosis↗

Radioisotopic evaluation of the treatment of Sudek's syndrome with calcitonin.

The authors report their investigations in ten patients suffering from Sudek's syndrome of the foot, studied by the use of the radioosteotrope 99mTc-Pirophosphate. Through this radioindicator it has been possible to evaluate qualitatively (scintigraphy) as well as quantitatively (scintimetry) the modifications of the metabolism induced by the administration of calcitonin. The evaluation, whose radioisotopic method is described in detail, has been carried out at various intervals during treatment with calcitonin (from two to six months). The normalization of the readjustment of the bone generally corresponded with marked clinical recovery of the patient.

Bone and Bones↗

Granulocyte function in visceral leishmaniasis.

Nitroblue tetrazolium test in nine children with visceral leishmaniasis (VL) showed no increase of spontaneous reduction by neutrophils. The normal bactericidal activity of four of these patients excludes an impaired function of the neutrophils in VL.

Blood Bactericidal Activity↗

Some properties of Hb G San Jose (beta7 glu replaced by gly): comparisons with Hb S.

Hb G San Jose (beta7 glu leads to gly) was studied with respect to oxygen affinity, Bohr effect, surface activity in dilute aqueous solutions, mechanical precipitability, heat stability and its ability to copolymerize in the deoxy form with Hb S. Oxygen affinity, Bohr effect, and polymerization with Hb S were found to be identical to those of Hb A when studied under the same conditions. However, surface activity and mechanical precipitation rates of the oxyconformers closely resembled those of oxyhemoglobin S. Hb G San Jose was also found to be slightly more unstable with heat than Hb A, although the instability was not detected by the usual incubation method of 1 hr at 50 degrees and higher temperatures were needed to elicit this difference. It is concluded that the ability to polymerize and the presence of increased surface activity are distinct and separable attributes of hemoglobin mutants. The finding that mixtures of Hb S and Hb G San Jose gel like mixtures of Hb S and Hb A supports the conclusion that only one beta 6 Val combining site per tetramer is required for polymer formation.

Adult↗

Haematological studies in a case of oculocerebrorenal syndrome.

A four-year-old boy affected by oculocerebrorenal syndrome had moderate anaemia. The haematological study indicated hyperhaemolysis probably due to an extra-erythrocytic factor. It is suggested that this factor might be related to the metabolic disturbance of the disease, particularly the hyperchloraemic acidosis.

Anemia↗