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1.
J Pediatr ; 247: 22-28.e2, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35577119

RESUMO

OBJECTIVE: To describe neurologic, radiologic and laboratory features in children with central nervous system (CNS) inflammatory disease complicating severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. STUDY DESIGN: We focused on CNS inflammatory diseases in children referred from 12 hospitals in the Paris area to Necker-Sick Children Reference Centre. RESULTS: We identified 19 children who had a history of SARS-CoV-2 infection and manifest a variety of CNS inflammatory diseases: encephalopathy, cerebellar ataxia, acute disseminated encephalomyelitis, neuromyelitis optica spectrum disorder, or optic neuritis. All patients had a history of SARS-CoV-2 exposure, and all tested positive for circulating antibodies against SARS-CoV-2. At the onset of the neurologic disease, SARS-CoV-2 PCR results (nasopharyngeal swabs) were positive in 8 children. Cerebrospinal fluid was abnormal in 58% (11/19) and magnetic resonance imaging was abnormal in 74% (14/19). We identified an autoantibody co-trigger in 4 children (myelin-oligodendrocyte and aquaporin 4 antibodies), representing 21% of the cases. No autoantibody was found in the 6 children whose CNS inflammation was accompanied by a multisystem inflammatory syndrome in children. Overall, 89% of patients (17/19) received anti-inflammatory treatment, primarily high-pulse methylprednisolone. All patients had a complete long-term recovery and, to date, no patient with autoantibodies presented with a relapse. CONCLUSIONS: SARS2-CoV-2 represents a new trigger of postinfectious CNS inflammatory diseases in children.


Assuntos
COVID-19 , Autoanticorpos , COVID-19/complicações , Humanos , Glicoproteína Mielina-Oligodendrócito , Doenças Neuroinflamatórias , SARS-CoV-2 , Síndrome de Resposta Inflamatória Sistêmica
2.
Mol Genet Metab ; 107(1-2): 66-71, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22854512

RESUMO

Inborn errors of cobalamin (Cbl, vitamin B(12)) absorption include hereditary intrinsic factor deficiency (HIFD) and Imerslund-Gräsbeck disease (IGD). HIFD is secondary to mutations in the HIF gene while IGD is due to mutations in one of the 2 subunits of the intrinsic factor receptor that is cubilin (CUBN) or amnionless (AMN). These disorders lead to intracellular Cbl depletion which in turn causes megaloblastic bone marrow failure, accumulation of homocysteine and methylmalonic acid (MMA), and methionine depletion. The clinical presentation reflects Cbl deficiency, with gastrointestinal symptoms, pancytopenia, and megaloblastic anemia. Mixed proteinuria, when it is present is strongly suggestive of IGD. Accurate diagnosis is always an emergency because early detection and treatment with life-long parenteral pharmacological doses of hydroxocobalamin are life saving and prevent further deterioration. However, the optimal frequency for cobalamin injections as a maintenance therapy is poorly reported. In order to evaluate the optimal maintenance schedule of cobalamin injections, we retrospectively collected clinical, biological, molecular and treatment data on 7 patients affected with congenital Cbl malabsorption. Unlike previous recommendations, we showed that a maintenance dosage of 1 mg cobalamin twice a year was enough to ensure a normal clinical status and keep the hematological and metabolic parameters in the normal range. These data suggest that patients affected with inborn errors of cobalamin absorption may be safely long-term treated with cobalamin injections every 6 months with careful follow-up of hematological and metabolic parameters. This maintenance regime is beneficial because the patients' quality of life improves.


Assuntos
Síndromes de Malabsorção/tratamento farmacológico , Proteinúria/tratamento farmacológico , Deficiência de Vitamina B 12/tratamento farmacológico , Vitamina B 12/uso terapêutico , Anemia Megaloblástica , Criança , Pré-Escolar , Feminino , Genótipo , Humanos , Lactente , Injeções , Síndromes de Malabsorção/diagnóstico , Masculino , Proteínas de Membrana , Mutação , Proteínas/genética , Proteinúria/diagnóstico , Resultado do Tratamento , Vitamina B 12/administração & dosagem , Deficiência de Vitamina B 12/diagnóstico
4.
Haematologica ; 92(12): 1691-4, 2007 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-18055994

RESUMO

The safety and efficacy of rituximab have been retrospectively assessed in 17 children with Evans syndrome. Patients received 4 or 3 weekly doses of rituximab (375 mg/m(2) per dose) associated with prednisone, alone (14 patients) or associated with other immunosuppressive drugs. Complete or partial remission of at least one cytopenia was achieved in 13 out of the 17 patients (76%), and lasted in 11 of them with a mean follow-up of 2.4 years (range 0.5-7 years). Steroid therapy was stopped or tapered at 50-100% of the baseline dosage in all long-term responders. Moderate side effects and infection occurred only in 4 and 1 children respectively.


Assuntos
Anemia Hemolítica Autoimune/tratamento farmacológico , Anticorpos Monoclonais/administração & dosagem , Fatores Imunológicos/administração & dosagem , Púrpura Trombocitopênica Idiopática/tratamento farmacológico , Adolescente , Anemia Hemolítica Autoimune/complicações , Anemia Hemolítica Autoimune/mortalidade , Anticorpos Monoclonais/efeitos adversos , Anticorpos Monoclonais Murinos , Criança , Pré-Escolar , Intervalo Livre de Doença , Feminino , Seguimentos , França , Humanos , Fatores Imunológicos/efeitos adversos , Lactente , Infecções/induzido quimicamente , Infecções/mortalidade , Masculino , Prednisolona/administração & dosagem , Prednisolona/efeitos adversos , Púrpura Trombocitopênica Idiopática/complicações , Púrpura Trombocitopênica Idiopática/mortalidade , Sistema de Registros , Indução de Remissão , Rituximab , Taxa de Sobrevida , Síndrome
5.
Eur J Cancer ; 50(18): 3206-11, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25459396

RESUMO

PURPOSE: The aim is to study statural growth in a large cohort of children with chronic myeloid leukaemia (CML) treated with front-line imatinib. METHODS: Retrospective data from 81 children less than 18 years of age with CML identified in the French pediatric registry were analysed. Height was expressed as standard deviation score (SDS). RESULTS: A gradual decrease in height SDS was observed over time since starting imatinib. The height SDS was significantly lower 12 months and 24 months after the start of imatinib overall (p < 10(-4)) irrespective of gender and pubertal age. The height SDS was significantly (p < 10(-4)) lower 12 months after the start of imatinib in boys and girls, and in the prepubertal age group as well as in the postpubertal age group, respectively. A similar finding was observed in the subgroups of boys and girls starting imatinib at a prepubertal or postpubertal age. Loss in height SDS 12 months after the start of imatinib was of the same range in boys when compared to girls and in patients who started imatinib at a prepubertal age compared to those who started at a postpubertal age. CONCLUSION: Growth velocity was altered during the first years of imatinib treatment in boys as well as in girls and in prepubertal age patients as well as in adolescents.


Assuntos
Antineoplásicos/efeitos adversos , Benzamidas/efeitos adversos , Transtornos do Crescimento/induzido quimicamente , Leucemia Mielogênica Crônica BCR-ABL Positiva/tratamento farmacológico , Piperazinas/efeitos adversos , Pirimidinas/efeitos adversos , Adolescente , Estatura/efeitos dos fármacos , Índice de Massa Corporal , Criança , Pré-Escolar , Feminino , Humanos , Mesilato de Imatinib , Lactente , Masculino , Estudos Retrospectivos
6.
J Clin Oncol ; 29(20): 2827-32, 2011 Jul 10.
Artigo em Inglês | MEDLINE | ID: mdl-21670449

RESUMO

PURPOSE: Imatinib is the standard of care in adults with chronic myeloid leukemia (CML) in chronic phase (CP). Only a few studies to assess efficacy in children have been performed. We report on the results of the French prospective trial (ClinicalTrials.gov identifier NCT00845221) conducted in children and adolescents with newly diagnosed CML in CP. PATIENTS AND METHODS: A total of 44 patients from age 10 months to 17 years with newly diagnosed CML in CP received daily imatinib 260 mg/m(2). Progression-free survival, responses, and tolerance were evaluated. RESULTS: With a median follow-up times of 31 months (range, 11 to 64 months), the estimated progression-free survival rate at 36 months was 98% (95% CI, 85% to 100%). A complete hematologic response was achieved in 98% of the patients. The rates of complete cytogenetic response (CCyR) and major molecular response (MMR) were 61% and 31% at 12 months, respectively. During follow-up, CCyR and MMR were achieved in 36 children (77%) and 25 children (57%), respectively. Overall, 30% of the patients discontinued imatinib, mainly because of unsatisfactory response. The most common adverse events were neutropenia and musculoskeletal events. CONCLUSION: Imatinib is effective in children with CML in CP with response rates similar to rates reported in adults. The adverse effects are acceptable, but longer follow-up studies are required to fully assess the long-term impact.


Assuntos
Antineoplásicos/uso terapêutico , Leucemia Mielogênica Crônica BCR-ABL Positiva/tratamento farmacológico , Piperazinas/uso terapêutico , Pirimidinas/uso terapêutico , Adolescente , Antineoplásicos/efeitos adversos , Antineoplásicos/farmacologia , Benzamidas , Criança , Pré-Escolar , Intervalo Livre de Doença , Relação Dose-Resposta a Droga , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , França , Humanos , Mesilato de Imatinib , Lactente , Leucemia Mielogênica Crônica BCR-ABL Positiva/patologia , Piperazinas/efeitos adversos , Piperazinas/farmacologia , Estudos Prospectivos , Pirimidinas/efeitos adversos , Pirimidinas/farmacologia , Análise de Sobrevida
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