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Biomedical subjects

A Ferster

Publications and source records attributed to A Ferster.

89 records · Page 5Linked to original sources
PubMed1992

[Bone marrow graft in hereditary diseases].

Since 1968, bone marrow transplantation became the first line therapy for selected metabolic and immunological hereditary disorders. Actually, advances in the supportive care in bone marrow transplantation and a better knowledge of the immunology of BMT complications has been associated with a better disease correction and an increase in long term survival. New approaches are under investigation and include: hematopoietic growth factors, enzymatic replacement and gene therapy. However at the present time BMT is still the only curative treatment for selected hereditary disorders.

Bone Marrow Transplantation↗
PubMed1991

Serum immunoreactive erythropoietin level: a new parameter for monitoring transfusion management of thalassaemia.

Serum immunoreactive erythropoietin (EPO) was measured sequentially in 8 patients with thalassaemia major. The EPO levels were distinctly increased before transfusion; they did not significantly change just after transfusion, but subsequently decreased. Pretransfusion EPO levels were similar to those observed in patients with non renal non inflammatory anaemias of the same severity. Our results show that production of EPO is appropriately increased in thalassaemia major and confirm that stimulation of endogenous erythropoiesis is not completely suppressed by the hypertransfusion regimen commonly used in this disease. As hyperstimulated ineffective erythropoiesis may lead to invalidating complications, we suggest that serum EPO measurements, which are now easily and reliably performed, should be used in monitoring the therapy of thalassaemia major.

Adolescent↗
PubMed1990

Desferrioxamine improves neutrophil phagocytosis in thalassemia major.

The aims of the present study are: first, to assess the toxic role of serum from thalassemic patients in phagocytosis of PMN from healthy controls, and second, to seek to determine whether serum and cellular disturbances of polymorphonuclear neutrophils (PMN) phagocytosis, observed in thalassemic patients, can be prevented and/or corrected by use of desferrioxamine (DFX). Two kinds of in vitro incubations--without or with DFX--were performed. PMN or serum from thalassemic patients or from healthy controls was used. First, a phagocytosis defect of 3 different bacteria species was induced in PMN from healthy controls by incubation in thalassemic serum. Second, DFX could prevent, already at 1 microM, the phagocytic defect induced in normal PMN by the incubation with thalassemic serum, with disappearance of the toxic role of thalassemic serum at higher concentrations. Third, improvement of the phagocytosis defect of PMN from thalassemic patients was also observed at 1 microM of DFX for the 3 bacteria species. Normalization was obtained at higher concentrations for gram-negative bacteria. In vivo studies revealed, after a 3 hr subcutaneous infusion of DFX into 3 thalassemic patients, an improvement of the phagocytosis results and a decrease of the Prussian Blue reactivity of the PMN. It is concluded first that an iron-mediated defect in phagocytosis can be induced in normal neutrophils by incubation in serum from thalassemic patients, and second that a precautious and intensive chelation therapy seems to be advantageous for increasing PMN defense against infectious agents. Special care must nevertheless be taken in order to detect rapidly opportunistic (such as Yersinia) infections.

Adolescent↗
PubMed1990

Trichothiodystrophy, mental retardation, short stature, ataxia, and gonadal dysfunction in three Moroccan siblings.

Three sibs, a boy and two girls, born to Moroccan consanguineous parents, were affected with a syndrome characterized by brittle hair, mental retardation, short stature, ataxia, and gonadal dysfunction. The hair in these three patients displayed the morphological and biochemical hallmarks of trichothiodystrophy (TTD). Gonadal function tests showed abnormal gonadotropic responses to LHRH, consistent with delayed puberty in the male and ovarian failure in both females. Comparison with previously reported cases of TTD associated with mental retardation suggests genetic heterogeneity, although specific biochemical markers are needed in order to answer this question.

Abnormalities, Multiple↗
PubMed1990

Consolidating the role of *I-MIBG-scintigraphy in childhood neuroblastoma: five years of clinical experience.

In recent years, *I-MIBG (*I-metaiodobenzylguanidine), which is transported and stored in the chromaffin cells, has been shown to allow good visualization of neuroblastomas in children. This paper deals with 30 *I-MIBG-scans performed in 20 children: 16 with neuroblastoma, 3 with retinoblastoma, and 1 with a malignant paraganglioma. A high detection rate was found for both primary and secondary sites of neuroblastoma. *I-MIBG was generally superior to 99mTc-MDP bone scintigraphy in the detection of bone metastases. Our experience illustrates the unique place of *I-MIBG-scintigraphy compared with other imaging techniques: it makes it possible to define the nature of the tumour, particularly in cases with normal catecholamine levels; to establish how extensive the lesions are at the time of diagnosis; and to confirm complete remission. No abnormal *I-MIBG uptake was noted in the 3 cases of retinoblastoma.

3-Iodobenzylguanidine↗
PubMed1989

Alkylating activity in serum, urine, and CSF following high-dose ifosfamide in children.

The pharmacokinetics of alkylating activity were studied in 17 children treated i.v. with ifosfamide (IF) at 3 g/m2 as a 1-h infusion for 2 consecutive days every 3 weeks, with mesna as a uroprotector. Two patients were treated for a newly diagnosed rhabdomyosarcoma according to the current SIOP (International Society of Pediatric Oncology) protocol. The other 15 patients were treated in a phase II study and presented with one of the following malignancies in relapse: neuroblastoma (7), osteosarcoma (3), soft tissue sarcoma (2), Wilms' tumor (1), non-Hodgkin's lymphoma (1), and acute lymphoblastic leukemia (1). Plasma alkylating activity levels determined by using 4(4'-nitro-benzyl)-pyridine showed considerable inter-individual and intercyclic variations and decreased biphasically, with mean alpha and beta half-lives of 60 min and 6-7 h, respectively. Probably as a result of liver mixed-function oxidase induction, on the 2nd day of treatment the terminal half-lives were shorter, the plasma exposures were lower, and the mean plasma clearances were higher. Renal excretion was almost complete after 24 h, accounting for a mean of 19% of the injected dose. The CSF alkylating activity levels, obtained in four children, were always lower than the plasma levels and ranged from 8 to 51 micrograms/ml, with a mean CSF/plasma ratio of 0.53 +/- 0.23 during the first 12 h. We conclude that IF alkylating activity was biphasically cleared from the plasma, with significant interindividual and intercyclic variability, that the renal contribution to the clearance was low, and that high levels of CSF alkylating activity could possibly contribute to the CNS toxic side effects observed in pediatric patients treated with high-dose IF/mesna.

Adolescent↗
PubMed1989

Inherited factor XIII deficiency.

A new observation of inherited factor XIII deficiency is described. The patient had presented in the past with an umbilical haemorrhage, a cerebral haemorrhage, multiple haematomas with delayed onset after minimal trauma, and episodes of spontaneous haemarthrosis. The biological diagnosis was made at the age of 7 years. The child had undetectable transamidating activity and factor XIII a chains, while the level of b chains was reduced. The values observed in the parents were intermediate between those of the patient and those of normal plasma. Heated factor VIII concentrates were found to contain only low amounts of factor XIII, and were thus unsuitable for the prophylactic therapy of this rare disease. The patient was successfully treated with monthly injections of a factor XIII concentrate.

Blood Coagulation Factors↗
PubMed1989

Protein kinase C deficiency in juvenile chronic myeloid leukemia: a case report.

Protein kinase C activity was assayed in morphologically differentiated and undifferentiated myeloid cells of a 13-month-old girl with chronic myeloid leukemia. A reduced protein kinase C activity was seen in the morphologically differentiated neutrophils, while the activity in the leukemic cells was higher to that of normal neutrophils from control subjects.

Adult↗
PubMed1988

Neuroblastoma today.

Notwithstanding the progress made in radiology, nuclear medicine, immunohematology and genetics for more accurate diagnosis and staging in neuroblastoma and the availability of general new efficacious cytostatic drugs, the prognosis of children over 1 yr with advanced disease has remained poor. New refinements in therapeutics with multiagent regimens, massive chemotherapy followed by autologous bone marrow transplantation treatment, with or without immunomagnetic purging, and/or total body irradiation have improved response rate and disease-free survival in metastatic patients, but their effect on long-term survival needs further evaluation.

3-Iodobenzylguanidine↗
PubMed1987

Neutrophil dysfunctions in thalassaemia major: the role of cell iron overload.

The susceptibility to infections was recorded in 13 patients with beta thalassaemia major (T.P.). The following parameters were also investigated in their polymorphonuclear neutrophils (PMN): nitro blue tetrazolium (NBT) reduction, heated yeast and Escherichia coli phagocytosis, Escherichia coli killing and myeloperoxydase activity. These results were compared to those obtained in healthy controls (H.C.). The Perls's reaction was performed on PMN and graded according to a scoring system with the aim of quantifying the iron intoxication of PMN. Phagocytosis and Perls's reaction of PMN from H.C. were also studied after 20 h of incubation with thalassaemic serum. 6 T.P. out of 13 developed septicaemia during their lifetime and in all 9 septicaemic episodes were noted. Phagocytosis was greatly impaired, disclosing both cellular and serum abnormalities. The mean percentage of Perls's positive PMN was 13% in T.P., contrasting with the constant negative reaction in H.C. The incubation of PMN from H.C. with serum from T.P. induced the simultaneous appearance of a phagocytosis defect and of a positive Perl's reaction. It was concluded that in beta thalassaemia major the phagocytosis of PMN was altered due to a combination of serum and cellular abnormalities and that both may be related to the iron overload.

Adolescent↗
PubMed1986

Leukemia in a trisomy 21 mosaic: specific involvement of the trisomic cells.

Acute monoblastic leukemia was diagnosed in a 32-month-old boy with mild signs of Down's syndrome. Chromosome analysis of cultured skin fibroblasts and peripheral blood lymphocytes disclosed a constitutional mosaicism (46,XY/47,XY,+21). At initial diagnosis of acute leukemia, additional chromosomal changes were found in bone marrow blasts that were consistent with the M5 subtype. The cytogenetic markers of the acute leukemia were restricted to the trisomic subset and disappeared during remission. These findings add further weight to the suggestion that the propensity of Down's syndrome patients to develop leukemia is directly related to their karyotype abnormality and that leukemia might be clonal in origin.

Child, Preschool↗
PubMedDate not supplied

Recurrent viral associated hemophagocytic syndrome in a child with Langerhans cell histiocytosis.

Langerhans cell histiocytosis (LCH) with subsequent viral-associated hemophagocytic syndrome (VAHS) or secondary hemophagocytic lymphohistiocytosis (HLH) is extremely rare. A 15-month-old girl with disseminated LCH experienced three episodes of VAHS during maintenance therapy. Viral infection, with influenza A, herpes simplex, and adenovirus, respectively, was documented at each episode. She recovered each time after interruption of maintenance therapy. The occurrence of fever and pancytopenia in patients with chemotherapy-treated LCH can be associated with VAHS and not with relapsing LCH.

Adenoviruses, Human↗