Biomedical subjects
Publications and source records attributed to S Musumeci.
The immunoglobulins, complement components C3 and C4, lymphocyte subpopulations, and K-cell activity were studied in 13 children with anaphylactoid purpura and in 12 children of the same ages who acted as controls. The children with anaphylactoid purpura had significantly lower T-cell counts, greater K-cell activity and IgM values, and lower C3 levels than the controls.
The chemical and physical properties of haemoglobin S derived from homozygotes for this haemoglobin in Sicily were examined, as well as some erythrocytic characteristics. Sicilian Hb S was identical to that found in USA black patients in electrophoretic mobility on both starch and citrate agar media, solubility, mechanical precipitation rate of oxyhaemoglobins, and minimum gelling concentration, as well as by peptide mapping and amino-acid analysis of all beta-chain peptides. Taken together with the presence in Sicily of African blood group markers and certain historical considerations, it seems clear that the source of Hb S in Sicily is Africa. While the clinical severity in nine Sicilian children did not seem remarkably different from the disease in the USA, the most severe and fatal complications were not seen. Mean Hb F Was 10.5% and 2,3-diphosphoglycerate (2,3-DPG) values were higher in Sicilian homozygotes than in black USA counterparts (21.79 mumol/g Hb vs 15.16). Red cell AT values were also slightly higher in Sicilian patients. The presence of concomitant thalassaemia was excluded by both family studies and globin chain synthetic ratios. In conclusion, haemoglobin S in Sicilian homozygotes is identical to Hb S found in USA blacks. Although the severity of the disease seems quite similar in both groups of patients, other erythrocytic properties were found to be different. Whether these factors influence severity remains to be elucidated.
In the south-east of Sicily 23 children from 14 unrelated families have been diagnosed as suffering from haemoglobin Lepore. Such a high incidence shows that Sicily is an important focus of haemoglobin Lepore. The results of haematological and biosynthetic studies in 18 carriers of Hb Lepore and in five double heterozygotes for Hb Lepore and beta-thalassaemia are presented. In the carriers the haematological and biosynthetic data are compared with carriers of beta-thalassaemia, while the five double heterozygotes are compared with beta o- and beta +-thalassaemia major subjects. In the carriers of Hb Lepore no synthesis of delta beta-chains was observed in peripheral blood cells; in fact we found a peak in the bone marrow. Double heterozygotes with circulating nucleated red cells showed delta beta-chain synthesis in peripheral blood.
Lymphocyte subpopulations were studied in 28 children with acute lymphoblastic leukaemia at different stages of the disease. T and B lymphocytes, present in low percentages at diagnosis, increased towards during remission in most patients. All patients off therapy had normal values of T and B lymphocytes. K cell activity, which was increased during remission in several patients, was normal in all patients off therapy. Further prospective studies will establish whether determination of K cell activity is an indicator of the stage of the disease.
The effect of glucose and polyamines (putrescine, spermidine and spermine) on the rate of autohemolysis in normal and thalassemic red blood cell (RBC) populations has been investigated. In addition, the specific activity of superoxide dismutase (SOD) was measured on blood samples obtained from the same patients. Our results show that glucose, and to a less extent polyamines, reduce the autohemolysis of thalassemic RBC, and that specific activity of SOD is increased in RBC from thalassemic patients compared to normal subjects.
Some hematological aspects of Mediterranean kala-azar were studied with radioisotopical methods. The results showed that pancytopenia is due to increased destruction of circulating elements in the spleen, less in the liver, and not to a defect in production. The serological alterations are characterized by an increase of immunoglobulins, and in particular of IgG, IgA and IgM, which is recorded not only in the acute phase of the disease but also many years after recovery. An hypothesis to explain the persistent alterations of serum proteins is suggested.
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A 3-year-old child of Sicilian origin was found to have a severe form of Cooley's anemia. Investigations were extended to other members of her family. In three, a rare beta-chain structural Hb variant, Hb G San José [beta 7 (A4) Glu to Gly], was observed: in the father of the porposita heterozygosity for the abnormal Hb was found to be coexistent with beta o thalassemia; two sisters had lowered MCV and MCH values and levels of the abnormal Hb significantly lower than in other heterozygotes for Hb G San José. The alpha-chain/total beta-chain synthesis ratios suggest an alpha-thalassemic-like effect. Their mother had lowered MCV and MCH values, an Hb A2 level in the upper limit of the normal range, and a balanced alpha-chain/beta-chain synthesis ratio. Therefore, the possibility of coexistence of an alpha thalassemia trait with a beta thalassemia trait in the mother of the proposita and with Hb G San José heterozygosity in the two sisters who had lowered levels of abnormal Hb is discussed.
Eight Sicilian patients with Hb H disease and their families have been studied. The standard haematological tests and the alpha/beta chain synthesis ratios showed significantly different results in the patients with Hb H disease as compared with alpha thalassaemia carriers, except for Hb A2 values. There was no significant difference in the mean RBC, MCV, Hb A2, Hb A1 and Hb F of alpha thalassaemia carriers compared with normal controls. On the contrary significant difference was found between the mean alpha/beta chain synthesis ratio of alpha thalassaemia carriers and that of the normal controls; however, the extensive overlapping of alpha/beta values between these two conditions make this parameter insufficiently discriminant. No correlation was found between MCV, MCH, RBC and alpha/beta chain synthesis ratio in patients with alpha thalassaemia trait, suggesting that the ratio cannot be used to distinguish between carriers of a mild gene ('silent' carrier) and carriers of the more severe alpha thalassaemia gene. A possible genetic model for alpha thalassaemia in Sicily is presented.
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Lymphocyte subpopulations were studied in 20 hypertransfused patients with beta-thalassaemia major, some of whom had been splenectomised. B-lymphocytes were normal but T-lymphocytes were decreased in all patients. The T-cell count was lower in the splenectomised patients than in the nonsplenectomised ones. In the former, the active rosette-forming lymphocytes were also diminished, but the difference was not significant. In all patients the percentage of null cells was greater and the activity of K-cells increased compared with controls.
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The authors report their experience with graded-pressure elastic hose (TED Stockings) for the prevention of deep venous thrombosis of the lower limbs and pulmonary embolism in high-risk, bedridden postoperative patients. The trial was designed according to a closed sequential program and gave positive, statistically significant results in terms of preventing pathology with this type of hose.
A 4-year-old boy affected by Wiskott-Aldrich syndrome had overt viral hepatitis B after repetitive blood transfusions. He was given immune serum containing HBs antibodies, with only transient improvement. The HBsAg titer decreased immediately after each administration of immune serum, but 2 days later it was higher than before. This effect could be explained by the presence of HBs antigen-HBs antibody complexes in the immune serum, not detected by the current testing procedure.
In view of the results obtained in 32 cases of primary closure of the perineum after amputation of the rectum for cancer, the authors believe that this policy is best after removal of the malignancy by the abdominoperineal approach. Unquestionable advantages are shortening of the patient's hospital stay and a more rapid recovery; the possible disadvantages are relatively rare, from an uncommonly severe dysmetabolic situation to local disorders such as poor hemostasis, contamination of the operation site, inadequate preoperative antibacterial protection, or an unusually large tumor.
The authors give a detailed description of one case of pulmonary blastoma recently come to their observation. Then, after a review of pertinent literature, they discuss the more interesting aspects of this pulmonary pathology, namely its rarity, uncertain histogenesis, difficult diagnosis, and above all baffling prognosis. They conclude with an appeal for further contributions on this interesting subject, in the hope of understanding it better through the study of an adequate number of cases.
The authors present a case of pulmonary hamartochondroma of exceptional size, of which they give a clinical descrition and explain the surgical treatment. Next, aloso in the light of recent literature on the subject, they review the possible causes of this disorder in terms of several histopathogenetic hypotheses, and they discuss problems of differential diagnosis as well as the histopathological aspects of this rare, benign tumor of the lung. They conclude that even though malignant transformation of hamartochondroma is exceptional, these tumors should always be removed surgically as soon as they are diagnosed or reasonably suspected.