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Biomedical subjects

S Musumeci

Publications and source records attributed to S Musumeci.

At least 19 recordsLinked to original sources
PubMed1991

Neopterin as a marker of C hepatitis in thalassaemia major.

The authors studied serum neopterin in 106 patients with beta thalassaemia major. A good correlation was found between neopterin values and glutamic pyruvic transaminase (GPT) mean values of the last 6 months, whereas no correlation was found between neopterin values and some siderosis indexes (iron/body weight, total accumulated iron). A statistically significant correlation was found between neopterin values (greater than 10 nM/L vs. less than 10 nM/L) and histological liver findings (chronic hepatitis vs. siderosis). Neopterin values were also statistically different between splenectomized and not splenectomized patients. Moreover serum neopterin was higher in HCV-Ab positive than in HCV-Ab negative patients, and 91.6% of the HCV-Ab positive group also showed histological signs of chronic hepatitis. These data suggest that increased serum neopterin might help to identify chronic C hepatitis in thalassaemic patients.

Adolescent↗
PubMed1979

Hemoglobin G San José [beta 2 7 (A4) Glu to Gly alpha 2], beta thalassemia, and alpha thalassemia in a Sicilian family.

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.

Child, Preschool↗
PubMed1979

Alpha thalassaemia in Sicily: haematological and biosynthetic studies.

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.

Adolescent↗
PubMed1979

Lymphocyte changes in beta-thalassaemia major.

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.

Adolescent↗
PubMed1979

[Graduated and constant compression of the lower extremities in the prevention of postoperative deep venous thrombosis and of pulmonary thromboembolism. Clinical trial].

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.

Bandages↗
PubMed1979

Viral hepatitis B and Wiskott-Aldrich syndrome.

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.

Child, Preschool↗
PubMed1979

[Primary closure of the perineum after Miles's abdominoperineal amputation for carcinoma of the rectum (author's transl)].

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.

Abdomen↗
PubMed1979

[Pulmonary blastoma. (Personal case)].

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.

Carcinoma, Squamous Cell↗
PubMed1979

[A case of giant hamartochondroma of the lung].

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.

Hamartoma↗
PubMed1979

[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↗
PubMed1978

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↗
PubMed1978

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↗
PubMed1978

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↗
PubMed1978

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↗
PubMed1978

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↗