Antonio Russo

Structural and ultrastructural study of the ovary in childhood leukemia after successful treatment

Ovarian biopsy specimens from ten girls (three postmenarcheal) who had undergone antiblastic treatment for acute lymphoblastic leukemia (ALL) and were in complete remission were examined by light microscope. the biopsy specimens from four of these patients (three postmenarcheal) were also observed by electron microscope. the structural and ultrastructural analysis showed a reduction in the number of follicles which were otherwise normal. No follicles were found in the thin sections from two of the three postmenarcheal girls, whereas normal follicles were observed in the third. the cortical stroma showed moderate to severe signs of fibrosis and changes of capillaries. All of these alterations were more evident in patients where ALL was diagnosed at an older age and this finding suggests that they are at a higher risk for low fertility or early menopause.

Prophylactic sclerotherapy in nonalcoholic liver cirrhosis: Preliminary results of a prospective controlled randomized trial

Between June, 1984 and December, 1985, a total of 41 patients were enrolled in a prospective controlled randomized trial comparing prophylactic sclerotherapy and medical treatment for the prevention of the first esophageal variceal bleeding. All patients had nonalcoholic liver cirrhosis, fourth degree varices, and no past history of gastrointestinal bleeding. The patients were randomly assigned to the control group (20 patients) or to the sclerotherapy group (21 patients); most of the patients belonged to Childs classes A and B.After a mean follow-up of 16.8 months, there were 3 variceal bleeding episodes and a 10% mortality rate in the control group whereas neither hemorrhage nor death was observed in the sclerotherapy group. In the latter group, severe complications occurred in 9.5% of the patients; the rate of recurrence after eradication of esophageal varices was 40%.Although there were no statistically significant results, the favorable trend toward a lower bleeding risk and better survival observed in the treated patients suggests that a longer trial in a larger population of cirrhotic patients with a longer follow-up should be considered.RésuméEntre juin 1984 et décembre 1985, 41 patients ont été inclus dans une étude prospective et randomisée comparant la sclérothérapie prophylactique et le traitement médical dans la prévention dune première hémorragie provenant de varices oesophagiennes. Tous les patients présentaient une cirrhose hépatique non alcoolique, des varices grade IV, et aucun antécédents dhémorragie digestive. Le groupe de contrôle comportait 20 patients. La majorité des patients appartenait aux groupes A ou B de la classification de Child.Après une période de surveillance de 16.8 mois en moyenne, on a observé 3 récidives hémorragiques et un taux de mortalité de 10% dans le groupe témoin alors quil ny avait ni récidive ni mortalité dans le groupe soumis à la sclérothérapie. Dans ce dernier groupe le taux de complications était de 9.5% et 40% des varices se sont reconstituées après éradication. Même si les résultats nétaient pas statistiquement significatifs, il semble y avoir moins de récidives et une meilleure survie après traitement. Ceci incite à continuer létude pour avoir un plus grand nombre de patients cirrhotiques pendant une observation plus longue.ResumenEntre junio de 1984 y diciembre de 1985 cuarenta y un pacientes fueron incluídos en un estudio prospectivo, controlado, y randomizado para comparar la escleroterapia profiláctiea con el tratamiento médico en la prevención de un primer episodio de sangrado varicoso. Todos los pacientes tenían cirrosis hepática de etiología no alcohólica, várices de 4° grado, y estaban libres de historia de hemorragia gastrointestinal previa. Los pacientes fueron asignados en forma randomizada al grupo control (20 pacientes) o al grupo de escleroterapia (21 pacientes); la mayoría fue clasificada en los grupos A y B de Child.Al completar un seguimiento promedio de 16.8 meses se encontraron 3 episodios de hemorragia varicosa y una mortalidad de 10% en el grupo control, en tanto que no se observaron hemorragias ni muertes en el grupo de escleroterapia. En este último ocurrieron complicaciones severas en 9.5% de los pacientes; la tasa de recurrencia después de la erradicación de las varices esofágicas, observada 3–12 meses después con ocasión de la repetición de la escleroterapia, fue de 54.5% para los pacientes en el grupo A de Child y de 28.6% en los del grupo B. Todas las recurrencias fueron facilmente tratadas con escleroterapia repetida, sin complicaciones.Nuestros resultados preliminares dan lugar a las siguientes consideraciones: los pacientes con cirrosis posthepatitis exhiben una baja tasa de hemorragia, aún sin tratamiento profiláctico; la hemorragia puede ser prevenida mediante escleroterapia con erradicación total de las várices; la incidencia de complicaciones es menor cuando la escleroterapia es realizada en forma profiláctica.Aunque no hay resultados estadísticamente significativos, la tendencia favorable hacia un menor riesgo de hemorragia y una mejor supervivencia observada en el grupo de escleroterapia sugiere que el estudio debe ser continuado en un mayor número de cirróticos y por un tiempo más prolongado.

Late deaths and second primary malignancies among long-term survivors of childhood cancer: An Italian multicentre study

A multicentre registry of children who had been successfully removed from therapy for some common childhood cancers (Hodgkins disease, non-Hodgkins lymphoma, neuroblastoma, nephroblastoma, acute lymphatic leukaemia and other leukaemias) was established in Italy in 1981. The present study describes mortality and occurrence of second primary malignancies (SPMs) among 1467 children who were alive when the registry was established. Follow-up ended on December 31, 1983 for mortality and 1 year later for the occurrence of SPMs. Sixty-seven deaths were recorded, 11 of which were due to causes other than progression of the original disease. Eleven incident SPMs were identified (i.e. 3 acute myeloid leukaemias, 3 thyroid carcinomas, 1 bilateral breast carcinoma, 1 liver malignant mesenchymoma, 1 astrocytoma, 1 chondrosarcoma and 1 osteosarcoma) corresponding to an incidence rate of 2.1/1000 patient-years at risk. Anecdotal reports were collected regarding 2 further SPMs (a thyroid carcinoma and a myeloid leukaemia) as well as several benign tumours, including 2 mammary fibroadenomas.

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.

Glucose-6-phosphate dehydrogenase deficiency in Sicily. Incidence, biochemical characteristics and clinical implications.

This report deals with the incidence, type and clinical implications of G6PD deficiency in Sicily. Of 3347 male subjects examined, 56 were deficient in G6PD. They were distributed throughout the island. The G6PD levels in RBC were almost zero; in leukocytes, platelets and saliva they were found to be 26%, 18% and 16%, respectively, of controls. The Michaelis constant for NADP and G6PD was lower than for controls. Conversely, the utilization of the analogous Gal6P and 2dG6P was higher. The thermostability of the enzyme was lower and the pH optima (6.5 and 9.5) were different from the controls. An identical electrophoretic pattern was found both in normal and deficient subjects. This pattern is superimposable on that described as Mediterranean variant. The analysis among 270 subjects admitted to our Clinic with hemolysis due to G6PD deficiency demonstrated that the most frequent disease is favism, followed by neonatal jaundice, while hemolysis due to drugs is very rare. Ingestion of fresh fava beans was the most frequent cause of favism, but cases occurred after breast feeding and inhalation of pollen.

Gastric Gastrinoma and Diffuse G Cell Hyperplasia Associated with Chronic Atrophic Gastritis

Chronic atrophic gastritis and a sessile polyp were diagnosed during gastroscopy of a patient with splenomegaly and portal hypertension. The polyp was removed endoscopically. Histologically, it proved to be an endocrine tumour, which was identified as gastrinoma by immunohistochemistry. Then, hypergastrinemia was found and gastrectomy was performed to ensure complete removal of the tumour. The surgical specimen showed G cell hyperplasia of the antro-pyloric mucosa and severe atrophic gastritis with scattered argyrophil micronodules in the corpus-fundus region. 3 years after this treatment the patient is well.

Population structure of Sicily: beta-thalassemia and HbS.

SummaryThe population structure of two alleles with similar characteristics, HbS and beta-thalassemia, was studied in the same area in Sicily. It was observed that beta-thalassemia has uniform frequencies over the island, and that HbS shows a South-North cline. A singularity exists for HbS in the town of Butera, where the frequency of the S gene is six times higher than the island average. It was suggested that HbS entered Sicily from Greece (or directly from North Africa) when the beta-thalassemia allele was already established in the Island.

Population Structure of Eastern Sicily

A sample of 465 persons from Eastern Sicily was studied for 11 red-cell enzymes, namely GLO, GPT, EsD, PGP, PGD, Dia, AcP, PGM, SOD, CAI and CAII. The allele frequencies were compared with those of other Italian populations and showed that the island is homogeneous with the mainland for these systems. The rate of heterozygosity was studied as a function of interparental distance; although high (0.77) the correlation did not reach significance.

Leukocyte function and characterization of leukocyte glucose-6-phosphate dehydrogenase in Sicilian mutants.

Extract: Nine Sicilian children known to be deficient in glucose-6-phosphate dehydrogenase (G6PD) were studied to see if there were anomalies of bactericidal activity in peripheral blood phagocytes. The type of deficiency was established. The G6PD levels in the leukocyte were found to be 26% of the controls (0.094 ± 0.03, normal controls 0.360 ± 0.12). The Michaelis constant for NADP and glucose-6-phosphate (G6P) was lower than the control. Conversely, the utilization of the analogous 2-deoxyglucose-6-phosphate (2dG6P) and galactose-6-phosphate (Ga16P) was higher. The thermostability of the enzyme in the deficient subjects was lower and the pH optima (8 and 9.5) were different from the controls. An identical electrophoretic pattern was found in both normal and deficient subjects. The bactericidal activity in the deficient subjects was normal. There was no difference in the results of nitroblue tetrazolium (NBT) tests in either group.Speculation: Although leukocyte G6PD was only one-quarter of the normal level, the phagocytic activity and the NBT test were normal in all subjects studied. It is not clear how such low levels of enzyme allow normal function. Perhaps further investigation under simulated intracellular conditions could give more reliable information about the enzyme activity.

Some Aspects of Neurotoxicity Associated with Central Nervous System Prophylaxis in Childhood Leukemia

Late effects of central nervous system (CNS) prophylaxis with cranial radiation (CR) and intrathecal chemotherapy encompass a broad spectrum of phenomena, ranging from fatal leukoencephalopathy to subclinical dysfunctions. Therefore, we studied 55 asymptomatic children with leukemia or solid tumors by means of visual-evoked potentials (VEP) in order to detect subclinical demyelination of the optic pathway after CNS prophylaxis. Ten of the 11 patients showed increased VEP latency after CR with 1,800 cGy, as compared with previous values. One third of our 34 children treated months to years before the study, with 2,400 cGy CR also showed increased VEP latency which was normal in children treated with intrathecal methotrexate only. Growth hormone secretion was investigated using sequential arginine (ARG) and insulin (INS) tolerance tests in 7 leukemic children treated with 1,800 cGy CR. At diagnosis all patients were responsive to both tests; after CNS prophylaxis, 2 patients were still responsive to ARG and INS, whereas the other 5 were responsive to ARG test only. These results are at variance with our previous experience in a series of 22 children treated with 2,400 cGy CR where 2 patients responded to ARG only and 5 did not respond to either stimulus. These data indicate that, even after a reduction of the CR dose, CNS prophylaxis is still associated with subclinical dysfunctions.