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1.
J Clin Immunol ; 39(3): 298-308, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30838481

RESUMO

DOCK2 is a guanine-nucleotide-exchange factor for Rac proteins. Activated Rac serves various cellular functions including the reorganization of the actin cytoskeleton in lymphocytes and neutrophils and production of reactive oxygen species in neutrophils. Since 2015, six unrelated patients with combined immunodeficiency and early-onset severe viral infections caused by bi-allelic loss-of-function mutations in DOCK2 have been described. Until now, the function of phagocytes, specifically neutrophils, has not been assessed in human DOCK2 deficiency. Here, we describe a new kindred with four affected siblings harboring a homozygous splice-site mutation (c.2704-2 A > C) in DOCK2. The mutation results in alternative splicing and a complete loss of DOCK2 protein expression. The patients presented with leaky severe combined immunodeficiency or Omenn syndrome. The novel mutation affects EBV-B cell migration and results in NK cell dysfunction similar to previous observations. Moreover, both cytoskeletal rearrangement and reactive oxygen species production are partially impaired in DOCK2-deficient neutrophils.

2.
J Pediatr Hematol Oncol ; 40(3): e167-e170, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28816797

RESUMO

We report the clinical history of 2 female patients with Ewing sarcoma and microscopic ovarian infiltration. In both cases, the initial workup found no metastasis. However, the examination of cryopreserved ovarian tissues revealed the presence of CD99 positive tumor cells with rearrangement of EWS gene confirmed by FISH. Both children were treated as patients with localized tumor and are currently in remission. These reports underline that, in Ewing sarcoma patients, retransplantation of cryopreserved ovarian tissue is not harmless and could lead to cancer relapse. These observations question also on the significance of ovarian dissemination on Ewing sarcoma prognosis and therapy.

3.
Acta Paediatr ; 104(8): 801-7, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25847425

RESUMO

AIM: Reports suggest that 10% of hospitalised children in Europe are undernourished. We investigated whether nutritional screening tools (NST) were used in Belgian secondary-level hospitals, examined strategies for detecting undernutrition and identified barriers preventing the systematic management of undernutrition. METHODS: A nationwide questionnaire-based survey of paediatric departments in Belgian secondary-level hospitals was carried out from September 2013 to February 2014. Respondents were dived into French-speaking (Walloon + Brussels) and Dutch-speaking (Flemish) departments. RESULTS: We received replies from 71 of the 97 (73.2%) departments. Half of the departments - 39.5% Flemish speaking and 71.4% Walloon speaking - carried out nutritional screening. Undernutrition was identified by measuring weight and length or height (92.7% of cases), clinical appraisal (74.7%), mid-upper arm circumference and/or skin fold thickness (19.7%). There was no protocol for undernutrition in many Flemish (60.5%)- and Walloon (28.6%)-speaking departments. Reasons given for not screening were as follows: lack of training (46.9%), ignorance of NST (42.2%) and lack of time (29.7%). CONCLUSION: Half of the paediatric departments in Belgian secondary-level hospitals did not carry out nutritional screening, and differences in current practices and attitudes may be due to cultural and/or educational differences.


Assuntos
Desnutrição/diagnóstico , Avaliação Nutricional , Bélgica , Criança , Pessoal de Saúde/educação , Hospitalização , Humanos , Melhoria de Qualidade , Inquéritos e Questionários
4.
Haematologica ; 99(7): 1220-7, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24727815

RESUMO

Dexamethasone could be more effective than prednisolone at similar anti-inflammatory doses in the treatment of childhood acute lymphoblastic leukemia. In order to check if this "superiority" of dexamethasone might be dose-dependent, we conducted a randomized phase III trial comparing dexamethasone (6 mg/m(2)/day) to prednisolone (60 mg/m(2)/day) in induction therapy. All newly diagnosed children and adolescents with acute lymphoblastic leukemia in the 58951 EORTC trial were randomized on prephase day 1 or day 8. The main endpoint was event-free survival; secondary endpoints were overall survival and toxicity. A total of 1947 patients with acute lymphoblastic leukemia were randomized. At a median follow-up of 6.9 years, the 8-year event-free survival rate was 81.5% in the dexamethasone arm and 81.2% in the prednisolone arm; the 8-year overall survival rates were 87.2% and 89.0% respectively. The 8-year incidences of isolated or combined central nervous system relapse were 2.9% and 4.5% in the dexamethasone and prednisolone arms, respectively. The incidence of grade 3-4 toxicities during induction and the frequency of osteonecrosis were similar in the two arms. In conclusion, dexamethasone and prednisolone, used respectively at the doses of 6 and 60 mg/m(2)/day during induction, were equally effective and had a similar toxicity profile. Dexamethasone decreased the 8-year central nervous system relapse incidence by 1.6%. This trial was registered at www.clinicaltrials.gov as #NCT00003728.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Criança , Pré-Escolar , Dexametasona/administração & dosagem , Feminino , Humanos , Imunofenotipagem , Quimioterapia de Indução , Lactente , Recém-Nascido , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , Leucemia-Linfoma Linfoblástico de Células Precursoras/mortalidade , Prednisolona/administração & dosagem , Fatores de Risco , Resultado do Tratamento
5.
J Clin Invest ; 124(1): 328-37, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24292712

RESUMO

Multiple intestinal atresia (MIA) is a rare cause of bowel obstruction that is sometimes associated with a combined immunodeficiency (CID), leading to increased susceptibility to infections. The factors underlying this rare disease are poorly understood. We characterized the immunological and intestinal features of 6 unrelated MIA-CID patients. All patients displayed a profound, generalized lymphocytopenia, with few lymphocytes present in the lymph nodes. The thymus was hypoplastic and exhibited an abnormal distribution of epithelial cells. Patients also had profound disruption of the epithelial barrier along the entire gastrointestinal tract. Using linkage analysis and whole-exome sequencing, we identified 10 mutations in tetratricopeptide repeat domain­7A (TTC7A), all of which potentially abrogate TTC7A expression. Intestinal organoid cultures from patient biopsies displayed an inversion of apicobasal polarity of the epithelial cells that was normalized by pharmacological inhibition of Rho kinase. Our data indicate that TTC7A deficiency results in increased Rho kinase activity, which disrupts polarity, growth, and differentiation of intestinal epithelial cells, and which impairs immune cell homeostasis, thereby promoting MIA-CID development.


Assuntos
Atresia Intestinal/genética , Mucosa Intestinal/patologia , Proteínas/genética , Imunodeficiência Combinada Severa/genética , Sequência de Bases , Polaridade Celular , Células Cultivadas , Criança , Consanguinidade , Análise Mutacional de DNA , Células Epiteliais/fisiologia , Exoma , Feminino , Estudos de Associação Genética , Ligação Genética , Humanos , Lactente , Atresia Intestinal/imunologia , Atresia Intestinal/mortalidade , Atresia Intestinal/patologia , Linfonodos/patologia , Linfopenia/genética , Linfopenia/imunologia , Linfopenia/patologia , Masculino , Linhagem , Proteínas/metabolismo , Imunodeficiência Combinada Severa/imunologia , Imunodeficiência Combinada Severa/mortalidade , Imunodeficiência Combinada Severa/patologia , Timo/anormalidades , Timo/patologia , Quinases Associadas a rho/metabolismo
6.
Pediatrics ; 133(1): e154-62, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24366995

RESUMO

OBJECTIVES: Clinical data are lacking on optimal levels of specific antipneumococcal antibodies (PnPsAbs) in patients with primary immunodeficiency (PID) receiving intravenous immunoglobulin (IVIG) replacement. Objectives were to conduct a prospective multicenter study providing data on total immunoglobulin G (IgG) and peak/trough levels of PnPsAbs specifically targeting the 16 most prevalent pneumococcal serotypes in IVIG-treated children with PID; to compare trough PnPsAb levels with those measured in healthy adults and the IVIG product; and to evaluate PnPsAb protection correlates with thresholds based on World Health Organization. METHODS: Patients received 7 consecutive IVIG infusions. Total IgG and PnPsAb levels were determined on plasma samples obtained before and after infusion. RESULTS: Twenty-two children with PID were treated with IVIG (mean weekly dose: 0.10 g/kg). The mean trough and peak levels of total IgG were 7.77 and 13.93 g/L, respectively. Trough and peak geometric mean concentrations and distribution curves differed between serotypes and showed wide dispersion (0.17-7.96 µg/mL). In patients (89%-100%), antibodies against most serotypes reached trough levels ≥ 0.2 µg/mL, a threshold considered protective against invasive pneumococcal infection. For several serotypes, trough levels reached ≥ 1.0 to 1.3 µg/mL, the level found in adults. Trough geometric mean concentrations correlated well with the PnPsAb contents of the IVIG product. CONCLUSIONS: In IVIG-treated children with PID, protective PnPsAb levels for most pathogenic serotypes were obtained. A correlation was observed between PnPsAb levels in patients and in the IVIG product. This offers the potential to improve infection prevention by adapting the IVIG product and dose according to epidemiology.


Assuntos
Anticorpos Antibacterianos/sangue , Imunoglobulina G/sangue , Imunoglobulinas Intravenosas/uso terapêutico , Síndromes de Imunodeficiência/tratamento farmacológico , Fatores Imunológicos/uso terapêutico , Streptococcus pneumoniae/imunologia , Adolescente , Adulto , Idoso , Biomarcadores/sangue , Estudos de Casos e Controles , Criança , Pré-Escolar , Esquema de Medicação , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Síndromes de Imunodeficiência/sangue , Síndromes de Imunodeficiência/imunologia , Lactente , Infusões Intravenosas , Masculino , Pessoa de Meia-Idade , Nefelometria e Turbidimetria , Estudos Prospectivos , Resultado do Tratamento , Adulto Jovem
7.
Pediatr Dermatol ; 30(6): e146-8, 2013 Nov-Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23017081

RESUMO

Sterile folliculitis is known to be one of the rare cutaneous manifestations of Crohn's disease (CD). To our knowledge it has never been emphasized as a marker of significant diagnostic value, perhaps maybe even more significant than more common cutaneous manifestations such as erythema nodosum (EN).


Assuntos
Doença de Crohn/complicações , Doença de Crohn/diagnóstico , Eritema Nodoso/diagnóstico , Eritema Nodoso/etiologia , Foliculite/diagnóstico , Foliculite/etiologia , Adolescente , Biópsia , Diagnóstico Diferencial , Eritema Nodoso/patologia , Feminino , Foliculite/patologia , Humanos
8.
Am J Hum Genet ; 90(6): 986-1001, 2012 Jun 08.
Artigo em Inglês | MEDLINE | ID: mdl-22608502

RESUMO

Most autosomal genetic causes of childhood-onset hypogammaglobulinemia are currently not well understood. Most affected individuals are simplex cases, but both autosomal-dominant and autosomal-recessive inheritance have been described. We performed genetic linkage analysis in consanguineous families affected by hypogammaglobulinemia. Four consanguineous families with childhood-onset humoral immune deficiency and features of autoimmunity shared genotype evidence for a linkage interval on chromosome 4q. Sequencing of positional candidate genes revealed that in each family, affected individuals had a distinct homozygous mutation in LRBA (lipopolysaccharide responsive beige-like anchor protein). All LRBA mutations segregated with the disease because homozygous individuals showed hypogammaglobulinemia and autoimmunity, whereas heterozygous individuals were healthy. These mutations were absent in healthy controls. Individuals with homozygous LRBA mutations had no LRBA, had disturbed B cell development, defective in vitro B cell activation, plasmablast formation, and immunoglobulin secretion, and had low proliferative responses. We conclude that mutations in LRBA cause an immune deficiency characterized by defects in B cell activation and autophagy and by susceptibility to apoptosis, all of which are associated with a clinical phenotype of hypogammaglobulinemia and autoimmunity.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Autoimunidade/genética , Síndromes de Imunodeficiência/genética , Agamaglobulinemia/genética , Apoptose , Autofagia , Linfócitos B/citologia , Proliferação de Células , Criança , Pré-Escolar , Mapeamento Cromossômico , Feminino , Ligação Genética , Genótipo , Homozigoto , Humanos , Imunofenotipagem , Masculino , Microscopia Eletrônica de Transmissão/métodos , Modelos Genéticos , Mutação , Linhagem , Fenótipo
9.
Arthritis Rheum ; 63(10): 3142-52, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21647864

RESUMO

OBJECTIVE: To evaluate response to therapy over a 24-month period in a large prospective international cohort of patients with juvenile dermatomyositis (DM). METHODS: The study included 145 patients with recent-onset juvenile DM and 130 juvenile DM patients experiencing disease flare, all of whom were <18 years old. Disease activity parameters and therapeutic approaches in 4 geographic areas were analyzed at baseline and at 6, 12, and 24 months. Response was assessed according to the Pediatric Rheumatology International Trials Organization (PRINTO) juvenile DM response criteria, and data were reported "as observed" and in the intent-to-treat (ITT) population. RESULTS: Patients with recent-onset juvenile DM at baseline had higher baseline disease activity and greater improvement over 24 months when compared to juvenile DM patients experiencing disease flare at baseline. Methotrexate (MTX) or high-dose corticosteroids were administered more frequently to patients with recent-onset juvenile DM, compared to juvenile DM patients experiencing disease flare, who were more likely to receive cyclosporine. Compared to patients from Western and Eastern Europe, a higher proportion of patients from South and Central America and North America received pulse steroids, and the average steroid dosage was higher in the North American and South and Central American patients. The use of MTX was similar in all 4 regions, while cyclosporin A was more frequently used in Western Europe. In the "as observed" analysis, 57.9% of the patients with recent-onset juvenile DM and 36.4% of the patients experiencing disease flare (P<0.001) reached at least a 70% response by PRINTO criteria at 6 months; these proportions had increased at month 24 to 78.4% and 51.2%, respectively (P<0.001). Corresponding results of the ITT analysis were much lower, with only one-third of the patients able to maintain the initial assigned therapy over 24 months. CONCLUSION: Patients with recent-onset juvenile DM are more likely to achieve significant clinical improvement over 24 months, when compared to patients experiencing flares of juvenile DM. Internationally, various therapeutic approaches are used to treat this disease.


Assuntos
Corticosteroides/uso terapêutico , Fármacos Dermatológicos/uso terapêutico , Dermatomiosite/tratamento farmacológico , Metotrexato/uso terapêutico , Adolescente , Criança , Feminino , Humanos , Estudos Longitudinais , Masculino , Estudos Prospectivos , Resultado do Tratamento
10.
Pediatr Blood Cancer ; 57(1): 119-25, 2011 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-21412967

RESUMO

BACKGROUND: Intensive chemotherapy has markedly improved the survival of children with acute lymphoblastic leukaemia (ALL) or lymphoblastic lymphoma (LL). Evaluation of late effects and analysis of factors contributing to their occurrence has become of major importance. Second neoplasm (SN) belongs to the most severe late events. PROCEDURE: We report the incidence of SN which occurred in patients recruited in EORTC trial 58881 for children with ALL or LL. The front-line treatment regimen was adapted from the BFM protocol, but did not include cranial radiotherapy, even in patients with initial involvement of the central nervous system. A total of 2,216 patients were recruited, of whom 2,136 achieved complete remission (CR). RESULTS: At a median follow-up of 7.5 years, 22 (1%) patients developed a SN: 20 during or after completion of front-line therapy and 2 in second CR, after relapse treatment including haematopoietic stem cell transplantation (HSCT). Ten patients developed acute myeloblastic leukaemia. Only one SN, a glioblastoma, was a brain tumour. Other SN were: two Hodgkin lymphomas, one non-Hodgkin lymphoma, two thyroid cancers, one osteosarcoma, two soft tissue sarcomas, one Ewing sarcoma, one cutaneous histiocytosis and one peritoneal carcinomatosis. The cumulative incidences of SN at 5, 8 and 13 years after registration were 0.8% (SE 0.2%), 1.0% (SE 0.2%) and 3.0% (SE 1.9%), respectively. CONCLUSION: The overall incidence rate of SN is comparable to that reported previously. In spite of short follow-up time, the low incidence of brain tumours might be related to the omission of cranial radiotherapy.


Assuntos
Neoplasias do Sistema Nervoso Central/mortalidade , Segunda Neoplasia Primária/mortalidade , Leucemia-Linfoma Linfoblástico de Células Precursoras/mortalidade , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Asparaginase/administração & dosagem , Asparaginase/efeitos adversos , Neoplasias do Sistema Nervoso Central/terapia , Criança , Pré-Escolar , Ensaios Clínicos como Assunto , Daunorrubicina/administração & dosagem , Daunorrubicina/efeitos adversos , Intervalo Livre de Doença , Feminino , Seguimentos , Humanos , Incidência , Lactente , Masculino , Segunda Neoplasia Primária/terapia , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Prednisona/administração & dosagem , Prednisona/efeitos adversos , Indução de Remissão , Estudos Retrospectivos , Taxa de Sobrevida , Vincristina/administração & dosagem , Vincristina/efeitos adversos
11.
Rheumatology (Oxford) ; 49(8): 1550-8, 2010 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-20444859

RESUMO

OBJECTIVES: Chronic inflammation in juvenile idiopathic arthritis interferes with linear growth and bone mass acquisition. We prospectively evaluated and compared linear growth and evolution of bone mass acquisition and body composition in MTX-resistant polyarticular-course JIA (polyJIA) patients started on etanercept and in recently diagnosed polyJIA patients started on MTX monotherapy. METHODS: Sixteen MTX-resistant polyJIA patients were given add-on etanercept, eight recently diagnosed polyJIA patients were started on MTX. Patients were evaluated at baseline and at 1, 6, 12 and 18 months with respect to disease activity, linear growth, BMD and body composition. RESULTS: Baseline patient and disease characteristics were similar in both groups. Clinical disease activity (Pediatric ACR30) was equally well controlled in both groups. Growth velocity increased significantly allowing catch-up growth in the etanercept + MTX group only. BMD (lumbar spine Z-score) improved significantly in both groups. A significant increase of bone mineral content and lean:fat mass ratio was seen in the etanercept + MTX group, but not in the MTX group. CONCLUSION: Clinical control of disease activity by etanercept in MTX-refractory polyJIA is associated with rapidly instituted catch-up growth and improvement of bone mineralization and body composition. In recently diagnosed polyJIA patients treated with MTX the relation between clinical response and these parameters was less evident. Preliminary data on serum IL-6 and osteoprotegerin levels indicate that the beneficial effects seen with etanercept therapy may be related to its control of systemic IL-6 production and enhancement of osteoblast activity.


Assuntos
Antirreumáticos/uso terapêutico , Artrite Juvenil/tratamento farmacológico , Densidade Óssea/efeitos dos fármacos , Crescimento/efeitos dos fármacos , Imunoglobulina G/uso terapêutico , Metotrexato/uso terapêutico , Receptores do Fator de Necrose Tumoral/uso terapêutico , Adolescente , Artrite Juvenil/fisiopatologia , Criança , Pré-Escolar , Resistência a Medicamentos , Etanercepte , Feminino , Humanos , Masculino , Estudos Prospectivos , Estatística como Assunto , Fatores de Tempo , Resultado do Tratamento
12.
Blood ; 116(1): 36-44, 2010 Jul 08.
Artigo em Inglês | MEDLINE | ID: mdl-20407035

RESUMO

The European Organisation for Research and Treatment of Cancer 58951 trial for children with acute lymphoblastic leukemia (ALL) or non-Hodgkin lymphoma (NHL) addressed 3 randomized questions, including the evaluation of dexamethasone (DEX) versus prednisolone (PRED) in induction and, for average-risk patients, the evaluation of vincristine and corticosteroid pulses during continuation therapy. The corticosteroid used in the pulses was that assigned at induction. Overall, 411 patients were randomly assigned: 202 initially randomly assigned to PRED (60 mg/m(2)/d), 201 to DEX (6 mg/m(2)/d), and 8 nonrandomly assigned to PRED. At a median follow-up of 6.3 years, there were 19 versus 34 events for pulses versus no pulses; 6-year disease-free survival (DFS) rate was 90.6% (standard error [SE], 2.1%) and 82.8% (SE, 2.8%), respectively (hazard ratio [HR] = 0.54; 95% confidence interval, 0.31-0.94; P = .027). The effect of pulses was similar in the PRED (HR = 0.56) and DEX groups (HR = 0.59) but more pronounced in girls (HR = 0.24) than in boys (HR = 0.71). Grade 3 to 4 hepatic toxicity was 30% versus 40% in pulses versus no pulses group and grade 2 to 3 osteonecrosis was 4.4% versus 2%. For average-risk patients treated according to Berlin-Frankfurt-Muenster-based protocols, pulses should become a standard component of therapy.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Linfoma não Hodgkin/tratamento farmacológico , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Corticosteroides/administração & dosagem , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Doença Hepática Induzida por Substâncias e Drogas/etiologia , Criança , Pré-Escolar , Dexametasona/administração & dosagem , Feminino , Humanos , Lactente , Linfoma não Hodgkin/diagnóstico , Linfoma não Hodgkin/mortalidade , Masculino , Osteonecrose/induzido quimicamente , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , Leucemia-Linfoma Linfoblástico de Células Precursoras/mortalidade , Prednisolona/administração & dosagem , Análise de Sobrevida , Taxa de Sobrevida , Resultado do Tratamento , Vincristina/administração & dosagem
13.
Hemoglobin ; 32(3): 279-85, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18473244

RESUMO

An estimation of the incidence and demographic picture of the major hemoglobinopathies in Belgium has been approached through a confidential inquiry sent to 228 pediatric and adult hematological departments. Forty-two percent of responses showed that 417 patients are known in Belgium: 83% with sickle cell disease, 13% with beta-thalassemia (beta-thal) major, 2% with beta-thal intermedia, and 1% with Hb H disease. Twenty-five percent of the sickle cell disease patients and 54% of those suffering from a beta-thal major were older than 20 years. Three hospitals ensure the follow-up of 70% of the patients and are situated in Brussels, Belgium; a follow-up of less than 20 patients was reported at 21 centers. These results confirm that sickle cell disease is the major hemoglobinopathy in Belgium; it concerns mostly pediatricians but adult hematologists are also confronted with these pathologies. Therefore, it is necessary to implement integrated programs of prevention and treatment.


Assuntos
Hemoglobinopatias/epidemiologia , Bélgica/epidemiologia , Demografia , Feminino , Seguimentos , Humanos , Masculino
14.
Childs Nerv Syst ; 22(11): 1475-8, 2006 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-16708251

RESUMO

CASE REPORT: We describe the case of a 5-year-old-boy who underwent surgery and focal radiotherapy for an anaplastic ependymoma of the fourth ventricle. One year later, a spinal metastasis was treated the same way. Six years later, a 16-mm lesion was found on a control MRI in the posterior fossa. To help the differential diagnosis between a relapse, a radio-induced modification, and a new tumor, magnetic resonance spectroscopy was performed. The main findings were a peak at the expected resonance frequency of reduced glutathione, a prominent peak of glutamate/glutamine compounds, a low N-acetylaspartate, and the absence of elevated choline. These findings were suggestive of a meningioma, although the latency between irradiation and development of the lesion was quite short. The diagnosis was confirmed by the pathological examination. CONCLUSION: This case exemplifies the fact that magnetic resonance spectroscopy provides useful biochemical information in such a clinical setting.


Assuntos
Neoplasias Encefálicas/diagnóstico , Ependimoma/diagnóstico , Quarto Ventrículo/patologia , Espectroscopia de Ressonância Magnética , Neoplasias Encefálicas/cirurgia , Criança , Diagnóstico Diferencial , Ependimoma/cirurgia , Quarto Ventrículo/cirurgia , Humanos , Estudos Longitudinais , Masculino , Radioterapia , Estudos Retrospectivos
15.
Blood ; 105(7): 2685-90, 2005 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-15604217

RESUMO

Hydroxyurea (HU) is considered to be the most successful drug therapy for severe sickle cell disease (SCD). Nevertheless, questions remain regarding its benefits in very young children and its role in the prevention of cerebrovascular events. There were 127 SCD patients treated with no attempt to reach maximal tolerated doses who entered the Belgian Registry: 109 for standard criteria and 18 who were at risk of stroke only. During 426 patient-years of follow-up for patients with standard criteria, 3.3 acute chest syndromes, 1.3 cerebrovascular events, and 1.1 osteonecrosis per 100 patient-years were observed. A subgroup of 32 patients followed for 6 years experienced significant benefit over this period. In each subgroup of children (younger than 2 years, 2-5, 6-9, and 10-19 years) followed for 2 years, clinical and biologic changes were similar, except for children younger than 2 years who had no total hemoglobin increase and remained at risk of severe anemia. In 72 patients evaluated by transcranial Doppler studies (TCD), 34 patients were at risk of primary stroke and only 1 had a cerebrovascular event after a follow-up of 96 patient-years. These results confirm the benefit of HU, even in very young children, and its possible role in primary stroke prevention.


Assuntos
Anemia Falciforme/tratamento farmacológico , Antidrepanocíticos/administração & dosagem , Hidroxiureia/administração & dosagem , Acidente Vascular Cerebral/prevenção & controle , Adolescente , Adulto , Anemia Falciforme/epidemiologia , Antidrepanocíticos/efeitos adversos , Bélgica/epidemiologia , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Hidroxiureia/efeitos adversos , Lactente , Masculino , Cooperação do Paciente , Sistema de Registros , Fatores de Risco , Prevenção Secundária , Acidente Vascular Cerebral/epidemiologia
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