Publications by authors named "Bader-Meunier B"

Purpose: To determine whether the use of maintenance therapy (MT) delivered after intensive induction and consolidation therapy confers any advantage in childhood acute myeloid leukemia (AML).

Patients And Methods: A total of 268 children with AML were registered in the Leucámie Aiquë Myéloïde Enfant (LAME) 89/91 protocol. This regimen included an intensive induction phase (mitoxantrone plus cytarabine) and, for patients without allograft, two consolidation courses, one containing timed-sequential high-dose cytarabine, asparaginase, and amsacrine.

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Type I congenital disorders of glycosylation (CDG I) are diseases presenting multisystemic lesions including central and peripheral nervous system deficits. The disease is characterized by under-glycosylated serum glycoproteins and is caused by mutations in genes encoding proteins involved in the stepwise assembly of dolichol-oligosaccharide used for protein N-glycosylation. We report that fibroblasts from a type I CDG patient, born of consanguineous parents, are deficient in their capacity to add the eighth mannose residue onto the lipid-linked oligosaccharide precursor.

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Introduction: In hereditary spherocytosis, erythropoiesis has been described as 'sluggish' during the first months of life. The lack of appropriate erythropoietic response to compensate for increased red cell destruction necessitates blood transfusions in 70-80% of hereditary spherocytosis-affected infants during their first year of life. After this period, less than 30% require regular transfusion support.

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Background: The reactive haemophagocytic syndrome (RHS) is a little-known life-threatening complication of rheumatic diseases in children. It reflects the extreme vulnerability of these patients, especially those with systemic-onset juvenile chronic arthritis (JCA). This immunohaematological process may be triggered by events such as herpes virus infection and non-steroidal anti-inflammatory drug therapy.

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Case Report: A ten-month-old boy presented with a severe auto-immune hemolytic anemia. Direct antiglobin test was positive only for IgA class autoantibodies. He recovered with a high dose corticosteroid treatment.

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Clinical manifestations of hereditary spherocytosis (HS) can be abrogated by splenectomy. However, concerns exist regarding exposure of patients to a lifelong risk for overwhelming infections and, to a lesser extent, to vascular complications after total splenectomy. In the search for alternative treatment modalities, we assessed, in a previous pilot study, the potential usefulness of subtotal splenectomy in a small population of patients.

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Reactive hemophagocytic syndrome is characterized by systemic proliferation and activation of benign hemophagocytic cells of the monocyte-macrophage lineage. Treatment should be directed to the etiology, but successful treatment with high-dose gamma-globulin has been reported, especially in viral-associated hemophagocytic syndrome. We report 17 patients, of which 9 had infection-associated hemophagocytic syndrome, all treated with high-dose gamma-globulin.

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Defective lymphocyte apoptosis caused by mutations of the Fas gene can result in an autoimmune lymphoproliferative syndrome (ALPS) in humans. We report two cases of dyserythropoiesis associated with a Fas-deficient condition in childhood. In both cases, dyserythropoiesis predominated on the more mature erythroblasts, and was associated with a lymphoproliferative syndrome as well as with haemolytic anaemia, hypergammaglobulinaemia and the expansion of an unusual population of CD4- CD8- T cells that express the alpha/beta T-cell receptor.

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There are three different aspects in the etiological diagnosis of hemostasis disorders: (1) primary hemostasis evaluation; (2) coagulation evaluation; and, (3) thrombosis evaluation. In every case, a look at the medical history is an essential step before proceeding to biological investigations. Bleeding time is the first step of the primary hemostasis evaluation; prolonged drug use (particularly salicylates) and thrombocytopenia must be first considered; only then will the Von Willebrand factor and platelet functions be studied.

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Fas (CD95/Apo-1) mutations were previously reported as the genetic defect responsible for human lymphoproliferative syndrome associated with autoimmune manifestations (also known as autoimmune lymphoproliferative syndrome or Canale-Smith syndrome). We have identified 14 new heterozygous Fas mutations. Analysis of patients and families allow us to further dissect this syndrome with regards to the relationship between Fas mutations, inheritance pattern, and phenotype as observed on long-term follow-up.

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We retrospectively analyzed the bone marrow (BM) smears of 10 children with mitochondrial cytopathies. Light microscopic examination showed large and coalescent cytoplasmic vacuolization of some BM precursors in nine cases, including two children with normal peripheral blood counts and four with sideroblastic anemia. BM ultrastructural study showed abnormal mitochondria in the erythroid lineage in all three children studied.

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Unlabelled: Castleman disease is a distinct lymphoproliferative disorder of unknown origin. Seven new cases in children are reported here and 76 cases from the paediatric literature are reviewed. The disease has been reported in 46 females and 37 males, their age ranging from 2 months to 17 years.

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Background: Benign intracranial hypertension is due to an increased intracranial pressure of unknown cause. The initial symptoms, complications and associations with medical conditions are discussed.

Case Report: A 6-year-old girl developed symptoms of benign intracranial hypertension following reduction of oral corticosteroid therapy.

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Porphyrias, a group of inborn errors of heme synthesis, are classified as hepatic or erythropoietic according to clinical data and the main site of expression of the specific enzymatic defect. Hereditary coproporphyria (HC) is an acute hepatic porphyria with autosomal dominant inheritance caused by deficient activity of coproporphyrinogen III oxidase (COX). Typical clinical manifestations of the disease are acute attacks of neurological dysfunction; skin photosensitivity may also be present.

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Sideroblastic anemia associated with vacuolization of haemopoietic precursors can be observed in some constitutional diseases associated with mitochondrial DNA deletion. In this condition, it is the haematological expression of a multi-tissue disorder. Haemopoiesis is polyclonal, without abnormality of nuclear DNA differing from the acquired idiopathic sideroblastic anemias which arise from a clonal transformed stem cell.

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Myelodysplastic syndromes (MDS) in children constitute a heterogeneous disorder, including 'primary' MDS and MDS associated with constitutional abnormalities. The Franco-American-British (FAB) cytological classification for adults can be applied for childhood in 50 to 100% of the cases. The transformation into acute myeloblastic leukemia often occurs, but stabilisation or spontaneous regression of the disease may also be observed.

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Background: Effectiveness of subtotal splenectomy, a procedure recently advocated as an alternative treatment to total splenectomy for patients with hereditary spherocytosis (HS), has been evaluated.

Methods And Patients: Eighty-eight patients (74 children) with HS were included in this series. Clinical presentations ranged from asymptomatic cases to severe transfusion-dependent forms.

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We report four cases of Noonan syndrome associated with chronic myelomonocytic leukemia in childhood. These children shared some hematologic features: thrombocytopenia, splenomegaly in the first months of life, occurrence of chronic myelomonocytic leukemia without abnormalities of the initial bone marrow karyotype, and, in three cases, improvement of the hematologic disease. A common pathophysiologic process in such patients is suggested.

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Total splenectomy eliminates the splenic destruction of erythrocytes with impaired deformability. However, concern has increased over the lifelong risk of overwhelming postsplenectomy infections in splenectomized patients, a risk reduced but not totally suppressed by appropriate prophylaxis. Partial splenectomy, as long as 80% to 90% of the enlarged spleen is removed and less than 25% of the normal spleen volume is retained, is a logical alternative, both preserving the phagocytic and immune function of the spleen and decreasing erythrocyte destruction.

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Unlabelled: This report documents the occurrence of a nephrotic syndrome in five children with Hodgkin disease. In two cases the nephrotic syndrome predated the diagnosis of lymphoma by 6 months and 12 months respectively, while in the other three, the two disorders occurred simultaneously. The nephrotic syndrome resolved in four cases during effective treatment for active Hodgkin disease, while proteinuria remained unchanged in the fifth case with partial control of the lymphoma.

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