Malignancy: X-Linked Cytochrome B Positive Chronic Granulomatous Disease treated by Bone Marrow Transplantation.

Chronic granulomatous disease is caused by a genetic defect in the oxidase of phagocytic cells which results in increased susceptibility to recurrent infections. Conventional treatment includes the use of antimicrobials and interpheron-gamma. This study was performed to assess the clinical efficacy of allogeneic bone marrow transplantation in definitively correcting the functional underlying defect of chronic granulomatous disease. An 8-year-old boy with a rare type X-linked cytochrome b positive chronic granulomatous disease underwent allogeneic bone marrow transplantation after conditioning with busulfan and cyclophosphamide. The patient's HLA identical sister was marrow donor. The post-transplant outcome was uneventful. During the 9 year follow-up period the patient has been constantly free of infections, maintained an excellent clinical performance with full correction of the granulocyte functional defect. This case confirms that allogeneic bone marrow transplantation is the only treatment capable to cure chronic granulomatous disease to those patients who cannot be optimally treated with conventional therapy.

Development of melanoma throughout two close pregnancies. Case report.

Primary melanoma is the most malignant and the least frequent of all cutaneous tumors. Its incidence in pregnancy varies from 0.1 to 2.8/1000. Up to today, impact of pregnancy on melanoma's course is still a much debated question in the literature. Some earlier reports suggested a particularly serious prognosis for melanoma associated with pregnancy, while more recent studies show that pregnancy may influence relapses without significantly altering survival. This paper reports the case of a woman affected by melanoma, whose clinical conditions became more and more serious during her second pregnancy and the following puerperal period. The progressive impairment of her clinical condition has suggested a correlation between the two close pregnancies and the unfavourable course of her disease.

[The clinico-immunological evaluation of a bivalent vaccine against measles and rubella]. / Valutazione clinico-immunologica di un vaccino bivalente contro morbillo e rosolia.

Prevention of measles and rubella can be obtained by a single administration of bivalent vaccine which can be added to the trivalent vaccine already practice in the USA since 1970 and in the Scandinavian Countries since 1982. We evaluated the immunological response and the clinical reactions to a bivalent vaccine against measles and rubella by the study of a control group including 29 children (17 females and 12 males) aged from a minimum of 15 months to a maximum of 9 years and 4 months. All the children who resulted not to be immune to the 2 viruses by serologic tests showed a rise in the antibody titer with 100% seroconversion, whereas in those proving to be already immune to one of the 2 viruses, a persistent antibody titer or an increase was revealed in all except one. Neither general nor local clinical reactions were observed except for two children who showed feverish measles-like reactions 8 days after the vaccine administration. These results suggest that this bivalent vaccine is highly effective, without negative effects. Furthermore associated with trivalent vaccines, it offers larger immunization opportunity mainly in children who have already been affected by mumps.

Morpho-functional characterization of cultured pigment cells from Rana esculenta L. liver.

A simple method to isolate and culture liver pigment cells from Rana esculenta L. is described which utilizes a pronase digestion of perfused liver, followed by sedimentation on a Ficoll gradient. A first characterization of isolated and cultured cells is also reported. They show both positivity for nonspecific esterases, and phagocytosis ability, like the cells of phagocytic lineage. Furthermore, after stimulation with a phorbol ester, these cells generate superoxide anions. At phase contrast microscope, liver pigment cells present variability in size, morphology, and in their content of dark-brown granules. Inasmuch as a cell extract obtained from cultured cells exhibits a specific protein band with dopa-oxidase activity, when run on nondenaturing polyacrylamide gel electrophoresis, liver pigment cells from Rana esculenta L. should not be considered as melanophages, but as cells that can actively synthesize melanin. The method presented here seems to be useful to more directly investigate this extra-cutaneous melanin-containing cell system and to clarify its physiologic relevance.

Reconstitution of normal neutrophil function in chronic granulomatous disease by bone marrow transplantation.

Allogeneic bone marrow transplantation was carried out on an 11-year-old boy with chronic granulomatous disease and severe chronic pulmonary insufficiency of restrictive type. After preparative regimen with busulfan (13 mg/kg) and cyclophosphamide (200 mg/kg), the patient received marrow cells from his HLA-identical and MLC-nonreactive sister. Durable sustained engraftment of donor hematopoietic and lymphoid populations occurred, as documented by analysis of genetic markers and complete reversal of the neutrophil function defect. No episode of infection occurred in the post-transplant course and, currently, 40 months after transplantation the patient is in excellent health and growing normally and showing an increasing improvement of his respiratory capacity. The successful outcome in this patient demonstrates that marrow transplantation is at present the only curative approach for this congenital disorder of neutrophil function.

[Clinico-immunologic evaluation of a trivalent vaccine against measles, rubella and mumps]. / Valutazione clinico-immunologica di un vaccino trivalente contro morbillo, rosolia e parotite.

Prevention of measles, mumps and rubella can be obtained by a single administration of a trivalent vaccine as it has already been practiced in the U.S.A. since 1970 in the Scandinavian Countries since 1982. The immunological response and the clinical reactions to a new trivalent vaccine (Triviraten-Berna) against measles, mumps, and rubella has been studied in a control group including 41 children (20 females and 21 males) aged from a minimum of 16 months to a maximum of 7 years and 4 months. All the children who resulted not to be immune to the 3 viruses by serologic tests showed a rise in the antibody titer with 100% seroconversion, whereas in those resulting to be already immune to one of the 3 viruses, a persistent antibody titer or an increase was revealed. Neither general nor local clinical reactions were observed. These results suggest that this trivalent vaccine is highly effective, without negative effects and helpful for a mass prevention of such viral diseases.

Postnatal development of prekallikrein (Fletcher factor) in man.

The aim of the present study was to determine the concentration of plasma prekallikrein in healthy infants during the first year of life. Prekallikrein levels evaluated by a chromogenic substrate assay were low in the first 15 days of life and increased progressively from the third week of life, reaching normal adult values after the third month of life. The low levels of prekallikrein during the neonatal age reflect the impaired ability of liver cells to synthesize proteins.

Absence of complement receptor type 3 and lymphocyte function antigen 1 causing deficient phagocyte and lymphocyte functions.

We describe a patient with delayed umbilical cord detachment, recurrent bacterial infections, and inability to form pus, despite persistent leucocytosis. Immunofluorescence studies with specific monoclonal antibodies showed a severe deficiency in the expression of alpha-chains of the receptor for the C3bi fragment of C3, complement receptor type 3, and the lymphocyte function antigen 1 molecule, found on neutrophil, monocyte and lymphocyte membranes. These membrane antigen defects were responsible for abnormalities in adhesive cell functions. Polymorphonuclear leucocytes demonstrated a markedly reduced chemiluminescence response as well as an impaired nitroblue tetrazolium test and superoxide generation to a particulate stimulus (zymosan), while the responses to a soluble stimulus (phorbol myristate acetate) were normal. In addition, random migration und chemotactic response to zymosan-activated serum were impaired. The lymphocytes demonstrated abolished natural killer cell cytotoxicity as well as abnormal humoral immunity and a lack of antibody response to pertussis and tetanus antigens.

Post-natal development of protein C in full-term newborns.

The purpose of this study was to determine the concentration of Protein C in the blood of full-term healthy newborns. The levels of Protein C, evaluated by electroimmunoassay, were low in the first 5 days of life and lower than the critical adult thrombotic level. The antigenic activity increased progressively from the 2nd week of life and the adult values were reached after the 6th month. The reduction of Protein C levels may impair the ability of the newborn to control consumptive disorders, thus exposing the infants to the risk of thrombotic conditions in neonatal age.