[Hematological screening of a group of children from a school population].
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Biomedical subjects
Publications and source records attributed to C Tolone.
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Rat mast cells, isolated from peritoneal fluids, were found to release substantial amounts of immunoreactive E-type prostaglandin when stimulated in vitro by foetal calf serum or incubated in the presence of arachidonic acid. Extracellular accumulation of iPGE reflected synthesis, rather than release of preformed material, since it was abolished by indomethacin, a potent and relatively specific inhibitor of prostaglandin synthetase. Hydrocortisone and Compound 48/80, in such experimental conditions, did not affect PGE release.
A case of hyperornithinemia and gyrate atrophy of choroid and retina has been observed in a 3-year and 9-month-old girl. She presented also mild mental retardation, delayed language development and speech defects. The restriction of protein intake to a minimum of 0.8 g/kg/day induced a significant reduction of plasma ornithine levels. In some of the previous reports of the syndrome, a deficient ornithine-ketoacid transaminase activity has been found in cultured fibroblasts.
In vitro hydrocortisone, in pharmacologically attainable concentrations, binds nonspecifically to rat peritoneal mast cells and amplifies the stimulating effects of PGE1 on membrane-bound adenylate cyclase. As a consequence, the intracellular concentration of cyclic AMP in the target cells increases and histamine release is markedly reduced. Deoxycorticosterone, at the same concentrations, has no effect. These findings may in part explain the mechanism of action of anti-inflammatory steroids, possibly related to the modulating effects of E-type prostaglandins.
Human polymorphonuclear leukocytes were found to be able to synthetize and release substantial amounts of PGE2' when stimulated by a phagocytic stimulus such as zymosan particles coated with complement. Hydrocortisone, at a concentration of 10(-5) M, which proved to be effective in other biological systems, failed to inhibit phagocytosis and PG release.
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Here we report two children with Aase-Smith syndrome (triphalangeal thumbs and congenital red cell plasia). In vitro growth of erythroid colonies was normal in the first patient and totally absent in the other. In both patients, treatment with glucocorticoids induced remission of anemia. Our results suggest that the different growth patterns of erythroid colonies observed in the two patients could reflect the defect of erythroid differentiation occurring at discrete maturational levels.
We report an 18-year-old boy with common variable immunodeficiency who presented with splenomegaly as well as left axillary and lateral cervical lymphadenopathy. Main laboratory investigations showed severe thrombocytopenia. Epstein-Barr virus (EBV) DNA was detected in the patient's throat-washing specimens and lymph node biopsy. Lymphocytes from the lymph node biopsy were also positive for EBV nuclear antigen. Serology for EBV and cytomegalovirus was negative. A therapeutic attempt with acyclovir did not influence the course of infection. Six months' treatment with human lymphoblastoid interferon-alpha (IFN alfa) brought about the normalization of clinical and hematologic conditions. Detection on throat-washing specimens carried out 1 year after therapy was negative. Our preliminary experience suggests that human lymphoblastoid IFN-alpha is a valid alternative in therapy of immunodeficient EB virus-infected patients.
We describe an infant with juvenile chronic myelogenous leukemia (JCML), the diagnosis of which was made by the characteristic clinical and hematologic findings. The absence of a related HLA-compatible donor for bone marrow transplantation coupled with the awareness that chemotherapy is usually ineffective prompted our decision to treat the patient with lymphoblastoid interferon-alpha [alpha(Ly)-IFN]. During the 26-month course of treatment with alpha(Ly)-IFN an incomplete regression of hematologic and clinical findings was achieved. The above results, along with the easy administration and absence of considerable side effects, suggest that alpha(Ly)-IFN may be a useful therapeutic tool in patients affected by JCML awaiting bone marrow transplantation.
Fanconi's anemia (FA) is a rare, genetically heterogeneous, autosomal recessive disorder characterized by bone marrow failure, congenital abnormalities, chromosome instability, and increased susceptibility to neoplasia. Congenital abnormalities vary in location and in severity and not all patients are affected. Although the primary defect of FA is unknown, hypersensitivity to the clastogenic effect of agents that introduce cross-links in the DNA, such as diepoxybutane (DEB), is a marker of the FA phenotype in patients suffering from aplastic anemia without the physical characteristics of the syndrome and, conversely, in cases with abnormalities in the preanemic phase. We report the case of two dizygotic twins suffering from FA with discordant hematologic data. The DEB test repeated several times in various laboratories yielded conflicting results, whereas cell cycle studies by flow cytometry revealed a pattern typical of FA patients. Moreover, the flow cytometric pattern was correlated with the clinical severity of the disease.
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E-type PGs, injected in rat skin at a low dose concentration (1-5 ng ml-) proved not to release vasoactive amines from local mast cell, enhance increase in vascular permeability evoked by hypersensitivity endogenous inflammatory reactions (passive cutaneous anaphylaxis and reversed passive Arthus) or by intradermal injection of histamine and bradykinin. The possible role of PGE1 and PGE2 as modulators of the inflammatory response is discussed.
The authors report a case of rhabdomyosarcoma of posterior urethra they observed in a 10 year-old boy who was referred for an acute urinary retention. The story of the patient included other urinary tract troubles: macroscopic haematuria and stranguria had been observed when the boy was four year old and at that time cystography and cystoscopy grave normal results. In the following years the patient presented repeatedly episodes of haematuria, stranguria, dysuria and urinary tract infections. The authors stress the slow evolution of the tumor and the difficulties for diagnosing the disease in its early phase.
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