RESUMO
Seckel syndrome is a rare autosomal recessive disease, genetically heterogeneous, characterized by short stature, prenatal microcephaly, intellectual disability, dysmorphic features, chromosomal instability, and hematological disorders. We report the case of a six-yr-old boy with Seckel syndrome and aplastic anemia who underwent successful allogeneic bone marrow transplantation from ten of ten HLA matched unrelated donor. Currently the patient is on D+771, in good health conditions and with no further complications. In conclusion, this case indicates that bone marrow transplantation is an acceptable therapeutic option for Seckel syndrome complicated by hematological alterations.
Assuntos
Anemia Aplástica/terapia , Nanismo/terapia , Microcefalia/terapia , Transplante de Células-Tronco/métodos , Alelos , Anemia Aplástica/complicações , Transplante de Medula Óssea , Criança , Ciclosporina/uso terapêutico , Nanismo/complicações , Fácies , Feminino , Antígenos HLA , Humanos , Doadores Vivos , Masculino , Microcefalia/complicações , Pessoa de Meia-Idade , Condicionamento Pré-Transplante , Transplante Homólogo/métodos , Resultado do TratamentoRESUMO
Oral mucositis (OM) affects patients who are submitted to hematopoietic stem cell transplantation (HSCT) due to high doses of chemotherapy and/or radiotherapy. The purpose of this investigation was to perform a comparative study of the frequency and evolution of OM among patients subjected to therapeutic laser and to the conventional therapy (use of mouthwash called 'Mucositis Formula'). The patients were subjected to a myeloablative conditioning regimen before the allogeneic HSCT. Twenty-two patients were selected and divided into 2 groups: group I was irradiated with InGaAlP laser (660 nm) and GaAlAs laser (780 nm), 25 mW potency, 6.3J/cm(2) dose, in 10-s irradiation time, followed to conventional treatment; group II was subjected only to the conventional treatment. Both World Health Organization (WHO) scale and the Oral Mucositis Assessment Scale (OMAS) were used to evaluate the results. Data were analyzed by the non-parametric Wilcoxon test, with p<0.05 considered as statistically significant. Group I presented a lower frequency of OM (p=0.02) and lower mean scores, according to WHO and OMAS scales (p<0.01 and p=0.01, respectively). In conclusion, laser reduced the frequency and severity of OM, suggesting that therapeutic laser can be used both as a new form of prevention and treatment of OM.
Assuntos
Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Leucemia/complicações , Terapia com Luz de Baixa Intensidade/métodos , Estomatite/prevenção & controle , Adulto , Feminino , Humanos , Leucemia/terapia , Terapia com Luz de Baixa Intensidade/instrumentação , Masculino , Pessoa de Meia-Idade , Antissépticos Bucais/uso terapêutico , Índice de Gravidade de Doença , Estatísticas não Paramétricas , Estomatite/etiologia , Estomatite/terapia , Condicionamento Pré-Transplante/efeitos adversos , Resultado do TratamentoRESUMO
Oral mucositis (OM) affects patients who are submitted to hematopoietic stem cell transplantation (HSCT) due to high doses of chemotherapy and/or radiotherapy. The purpose of this investigation was to perform a comparative study of the frequency and evolution of OM among patients subjected to therapeutic laser and to the conventional therapy (use of mouthwash called "Mucositis Formula"). The patients were subjected to a myeloablative conditioning regimen before the allogeneic HSCT. Twenty-two patients were selected and divided into 2 groups: group I was irradiated with InGaAlP laser (660 nm) and GaAlAs laser (780 nm), 25 mW potency, 6.3J/cm² dose, in 10-s irradiation time, followed to conventional treatment; group II was subjected only to the conventional treatment. Both World Health Organization (WHO) scale and the Oral Mucositis Assessment Scale (OMAS) were used to evaluate the results. Data were analyzed by the non-parametric Wilcoxon test, with p<0.05 considered as statistically significant. Group I presented a lower frequency of OM (p=0.02) and lower mean scores, according to WHO and OMAS scales (p<0.01 and p=0.01, respectively). In conclusion, laser reduced the frequency and severity of OM, suggesting that therapeutic laser can be used both as a new form of prevention and treatment of OM.
A mucosite oral (MO) afeta pacientes que são submetidos ao transplante de células-tronco hematopoéticas (TCTH) devido as altas doses de quimioterapia e/ou radioterapia. A proposta desta investigação foi realizar um estudo comparativo da freqüência e a evolução da MO entre os pacientes submetidos ao laser terapêutico e da terapia convencional (uso de solução de bochecho chamada "Fórmula para Mucosite").Os pacientes foram submetidos ao regime de condicionamento mieloablativo antes da realização do TCTH alogênico.Vinte e dois pacientes foram selecionados e divididos em 2 grupos: grupo I foi irradiado com laser AlGaInP (660 nm) e laser GaAlAs (780 nm), potência de 25 mW, dose de 6,3J/cm², tempo 10 s, seguido do tratamento convencional; grupo II submetido apenas ao tratamento convencional. Ambas as escalas da World Health Organization (WHO) e Oral Mucositis Assessment Scales (OMAS) foram utilizadas para avaliar os resultados. Os dados foram analizados pelo teste não-paramétrico de Wilcoxon, com p<0,05 considerado estatisticamente significante. O grupo I apresentou menor frequência de MO (p=0,02) e menor média de acordo com as escalas WHO e OMAS (p<0,01 e p=0,01, respectivamente). Em conclusão, o laser reduziu a frequência e gravidade da MO, sugerindo que o laser terapêutico pode ser usado para ambos como uma nova forma de prevenção e tratamento da MO.
