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S Musumeci

Publications and source records attributed to S Musumeci.

At least 145 records · Page 8Linked to original sources

Studies of the neutropenia in kala-azar: results in two patients.

Two patients with kala-azar were studied, one with DF32P (diisopropylfluorophosphate) and one with 51CR (chromate), in an attempt to elucidate the mechanisms producing neutropenia in this disease. The granulocyte half-life was found to be reduced in both patients, with pooling and probable destruction occurring in the spleen and, to a lesser extent, in the liver. Bone marrow neutrophil reserve, estimated by the response to intravenous hydrocortisone hemisuccinate, was found to be markedly reduced in both patients. An enlarged marginal granulocyte pool in one patient indicated that the neutropenia may also be due to altered intravascular granulocyte distribution.

Agranulocytosis↗

Delta-beta-thalassemia is due to a gene deletion.

DNA has been prepared from peripheral blood or cultured skin fibroblasts obtained from three Sicilian and one Greed deltabeta-thalassemia homozygotes. Globin-gene analysis was carried out using a cDNAbeta probe, and the results indicate that deltabeta-thalassemia has arisen from a deletion of the beta-globin genes. A similar result was obtained using DNA prepared from cultured skin fibroblasts from an individual homozygous for the Negro form of hereditary persistence of fetal hemoglobin (HPFH). In both cases, the deletion has spared the Ggamma and Agamma loci directing the gamma chains of hemoglobin F, but it has not been possible to demonstrate any difference between the size of the deletion involved in the production of delta-beta-thalassemia and that which gave rise to HPFH. These experiments provide further direct evidence that deletions of critical areas of the gamma-delta-beta gene cluster result in persistent gamma chain synthesis in adult life.

Chromosome Aberrations↗

A new alkali-resistant hemoglobin alpha2J Oxford gammaF2 in a Sicilian baby girl with homozygous beta0 thalassemia.

A 10-mo-old baby girl with homozygous beta0 thalassemia and alphaJOxford, presenting the clinical picture of homozygous beta thalassemia is described. Hemoglobin electrophoresis showed three bands: the first two with the mobilities of hemoglobin Hb A2 (1%) and Hb F (69%), respectively, the third migrating a little faster than Hb A (30%). About 30% of her alpha chains were J Oxford which, bound to her gamma chains, produced a new alkali-resistant hemoglobin, alpha2 J Oxford gamma F2, which has not been described previously. Hemoglobin synthesis in vitro showed the absence of beta chain synthesis and an alpha/non-alpha ratio of 2. The patient's father was heterozygous for both the Hb J Oxford and beta0 thalassemia genes, the mother a carrier of beta0 thalassemia; four other relatives were carriers of Hb J Oxford, and one was a carrier of beta thalassemia.

Alkalies↗

[Value and limitations of telethermography in the diagnosis of peripheral arterial diseases (clinical contribution)].

Using a diagnostic technique allowing thermal variations of the body surface to be translated into pictures by remote recordings (telethermography), the Authors studied a group of patients suffering from peripheral arteriopathies. The patients were also subjected to other tests (oscillography, pletysmography, electrothermometry, arteriography). The diagnostic reliability of the telethermographic procedure in the cases studied was 80% (8 cases out of 10), with 20% of false negatives. Even in the two falsely negative cases, however, the investigation proved useful, since it allowed the improvement obtained with medical and surgical therapy to be evaluated. The Authors therefore conclude by asserting that telethermography is an effective diagnostic means because of the reliability of the results and its simplicity in use, as well as being non-traumatic and hence easily repeatable.

Adult↗

Platelet and fibrinogen survival with 75Se selenomethionine in acute infectious hepatitis.

Simultaneous platelet and fibrinogen survival with 75Se selenomethionine was determined in eight patients with acute infectious hepatitis of intermediate severity. Fibrinogen survival alone was estimated in another nine patients, seven of whom were receiving heparin treatment. Platelet survival was found to be normal (7-9 days) in seven of the 8 patients; it was reduced 4,6 days) only in one patient, who was also affected by measles. Fibrinogen survival was markedly reduced (1-3.7 days) and fibrinogen turnover sharply increased (0.59-2.80 mg/ml/day) in all but one patient, who had thalassaemia major, with normal fibrinogen survival and fibrinogen turnover. Heparin treatment did not affect either platelet survival or fibrinogen turnover. In all patients the coagulation defect was mild and no sign of disseminated intravascular coagulation or of increased fibrinolytic activity could be demonstrated by routine tests. These results are consistent with the hypothesis that in acute infectious hepatitis the decreased survival and increased turnover of fibrinogen might be due to a pathological pathway of defibrination in dependent of thrombin of plasmin.

Afibrinogenemia↗

Studies in Mediterranean leishmaniasis. 3. The leishmanin skin test in kala-azar.

Leishmanin skin testing was carried out in the Emilia-Romagna region of Northern Italy, the site of an outbreak of kala-azar in 1971-72, and in Catania, Eastern Sicily an old endemic focus of Mediterranean kala-azar. Nearly all the people who had recovered from kala-azar in the past gave positive skin tests. Active cases of kala-azar gave negative tests. There was a higher proportion of positive reactors amongst the household contacts and neighbours of cases of kala-azar than among the general population. Age specific leishmanin rates showed an increasing positive rate with age in Catania, comparable to those found in endemic areas in Kenya, but in the Emilia-Romagna area all age groups showed a high positivity rate suggesting a simultaneous exposure to infection. The age specific rates from Catania suggest an interruption in transmission 20-30 years ago. The leishmanin skin test is a useful tool for the study of the epidemiology of Mediterranean kala-azar.

Adolescent↗