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1.
Arch. argent. pediatr ; 119(3): e242-e246, Junio 2021. tab, ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-1248200

ABSTRACT

La leucemia linfoblástica aguda (LLA) es la patología oncológica más frecuente en pediatría, y corresponde al 23% de las neoplasias en menores de 15 años. Alrededor del 20% de los pacientes con LLA presentan recaídas, en la mayoría de los casos, en la médula ósea. Las recaídas extramedulares son inusuales y las dos localizaciones más frecuentes son el sistema nervioso central (SNC) y los testículos. Cuando las recaídas ocurren en el SNC, suelen manifestarse con un síndrome meníngeo. El síndrome hipotalámico se define como la presencia de hiperfagia, obesidad y/o cambios en el estado de ánimo, y es una forma de presentación clínica inusual de las recaídas en el SNC y debe alertar al pediatra para mantener un alto índice de sospecha.Se describen cuatro casos que se presentaron con síndrome hipotalámico al momento de desarrollar una recaída de LLA en el SNC


Acute lymphoblastic leukemia (ALL) is the most common malignancy in childhood, corresponding to 23% of cancer in children younger than 15 years old. About 20% of ALL cases will relapse, commonly in the bone marrow. Extramedullar relapses are unusual, and the two most frequent locations are CNS and testicles. ALL relapses, when diagnosed in the CNS, frequently present with clinical features of a meningeal syndrome. The hypothalamic syndrome, consisting of hyperphagia, obesity and / or behavior disturbances, corresponds to an unusual presentation of relapses in this location and should alert pediatricians to suspect it.We describe 4 ALL cases of hypothalamic syndrome at the time of CNS relapse


Subject(s)
Humans , Male , Female , Child, Preschool , Child , Lymphoma, B-Cell , Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis , Recurrence , Fatal Outcome , Precursor Cell Lymphoblastic Leukemia-Lymphoma/therapy , Hypothalamic Diseases/diagnosis
2.
Hematol., Transfus. Cell Ther. (Impr.) ; 43(1): 9-14, Jan.-Mar. 2021. tab, ilus
Article in English | LILACS | ID: biblio-1154298

ABSTRACT

ABSTRACT Introduction: To assess the frequency of allergic reactions to asparaginase (ASP) and possible risk factors for reactions in a cohort of pediatric patients. Method: The study was performed based on retrospective data from patients under acute lymphoid leukemia treatment in a general university hospital located in southern Brazil. Information on patients who used ASP from 2010 to 2017 was collected. Allergic reactions were identified in electronic medical records. Results: Among the 98 patients included in the study, 16 (16.3 %) experienced an allergic reaction to native l-asparaginase (L-ASP). Of the 22 patients (22.4 %) that received only intravenous (IV) administration of l-ASP, 10 (62.5 %) had allergic reactions, while 48 patients (49 %) received intramuscular (IM) administration and 28 (28.6 %) received IV and IM administrations. The occurrence of allergic reactions differed between the groups (p < 0.001), and IV administration was associated with allergic reactions. Association was also observed between the severity of the reaction and the route of administration, with the IM route associated with grade 2 and IV route associated with grade 3. Occurrence of allergic reactions was higher when the commercial formulation of l-ASP, Leuginase®, was used (p = 0.0009 in the analysis per patient and p = 0.0003 in the analysis per administration). Conclusions: The IV administration and commercial Leuginase® presentation were associated with more allergic reactions in the study population, which corroborates the findings in the literature. The IV route was also associated with higher severity of reactions in the present study.


Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Asparaginase/toxicity , Child , Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis , Precursor Cell Lymphoblastic Leukemia-Lymphoma/therapy , Hypersensitivity
3.
Hematol., Transfus. Cell Ther. (Impr.) ; 43(1): 28-34, Jan.-Mar. 2021. tab, graf, ilus
Article in English | LILACS | ID: biblio-1154296

ABSTRACT

ABSTRACT Aberrant expression of long non-coding RNAs (lncRNAs) has been detected in several types of cancer, including acute lymphoblastic leukemia (ALL), but lncRNA mapped on transcribed ultraconserved regions (T-UCRs) are little explored. The T-UCRs uc.112, uc.122, uc.160 and uc.262 were evaluated by quantitative real-time PCR in bone marrow samples from children with T-ALL (n = 32) and common-ALL/pre-B ALL (n = 30). In pediatric ALL, higher expression levels of uc.112 were found in patients with T-ALL, compared to patients with B-ALL. T-cells did not differ significantly from B-cells regarding uc.112 expression in non-tumor precursors from public data. Additionally, among B-ALL patients, uc.112 was also found to be increased in patients with hyperdiploidy, compared to other karyotype results. The uc.122, uc.160, and uc.262 were not associated with biological or clinical features. These findings suggest a potential role of uc.112 in pediatric ALL and emphasize the need for further investigation of T-UCR in pediatric ALL.


Subject(s)
Humans , Female , Diploidy , Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis , Precursor Cell Lymphoblastic Leukemia-Lymphoma/therapy , Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/diagnosis , Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/therapy , Bone Marrow , Polymerase Chain Reaction
4.
Rev. bras. oftalmol ; 80(1): 33-41, jan.-fev. 2021. graf
Article in Portuguese | LILACS | ID: biblio-1251314

ABSTRACT

RESUMO A Leucemia Linfocitica Aguda (LLA) é uma doença caracterizada por uma alta taxa de sobrevida, porém o número absoluto de crianças que morrem por ela representa uma grande parcela dos casos de óbitos infantis por câncer. A morbidade decorrente de seu tratamento pode deixar sequelas em pessoas com grande expectativa de vida, tornando-se extremamente necessário o entendimento da patogênese desta doença, possibilitando o desenvolvimento de novos tratamentos e diminuição de sequelas provocadas pela doença. O diagnóstico precoce é importante para se evitar complicações oculares que possam levar a baixa de acuidade visual em longo prazo e para avaliação de recaídas de tratamento sendo determinante no direcionamento de condutas.


ABSTRACT The Acute Lymphocytic Leukemia (ALL) is a disease characterized by a high survival rate, but the absolute number of children who die from it represents a large proportion of cases of infant deaths from cancer. The morbidity resulting from its treatment can leave sequelae in people with high life expectancy, making it extremely necessary to understand the pathogenesis of this disease, enabling the development of new treatments and reduction of sequelae caused by the disease. This early diagnosis is important to avoid ocular complications that may lead to low long-term visual acuity and to evaluate treatment relapses and determine the conducts.


Subject(s)
Humans , Male , Child , Prognosis , Retina/pathology , Leukemic Infiltration , Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis
5.
Rev. cuba. hematol. inmunol. hemoter ; 36(1): e1103, ene.-mar. 2020. tab, graf
Article in Spanish | LILACS, CUMED | ID: biblio-1126542

ABSTRACT

Introducción: La leucemia es el cáncer más frecuente en edades pediátricas. La leucemia linfoide aguda (LLA) representa el 23 por ciento de los diagnósticos de cáncer en niños menores de 15 años y el 75 por ciento de todas las leucemias. Más del 90 por ciento de las leucemias mieloides agudas (LMA) en la niñez son agudas y el resto son crónicas. Objetivo: Caracterizar las leucemias agudas de la edad pediátrica en Cuba. Métodos: Estudio descriptivo, longitudinal y retrospectivo. La muestra fue de 799 niños de toda Cuba, los cuales fueron atendidos en los siete hospitales pediátricos acreditados en el país para el tratamiento de leucemias agudas, entre enero 2006 y diciembre de 2015. Como medida de resumen para las variables cuantitativas se utilizaron la media y desviación estándar. Para todas las variables cualitativas se calcularon los porcentajes de cada grupo. Resultados: Las tasas de incidencia fueron de 2,9 x 100 000 niños. El 95 por ciento fueron leucemias agudas (70,6 por ciento linfoides), con el 34,9 por ciento de leucemia promielocíticas (LPM) en las LMA. Predominó el sexo masculino y la edad promedio al diagnóstico fue de 7,1 años. El porcentaje de remisión completa en las LLA fue de 91 por ciento y en las LMA, de 66,7 por ciento. La frecuencia de recaídas de la enfermedad fue de 25,1 por ciento en las LLA, 13,7 por ciento en las LPM y 45 por ciento en las otras mieloides. La sobrevida global y libre de eventos fue de 89 por ciento y 63 por ciento en los niños con LLA, 64 por ciento y 62 por ciento en la LPM, 38 por ciento y 36 por ciento en la LMA no promielocítica, respectivamente. Conclusiones: La frecuencia y distribución etaria de las leucemias en niños cubanos son similares a lo descrito a nivel. Los resultados del tratamiento en las leucemias agudas de manera general pueden considerarse como buenos(AU)


Introduction: Leukemia is the most frequent cancer in pediatric ages. Acute lymphoid leukemia (ALL) accounts for 23 percent of cancer diagnoses in children at ages under 15 years and 75 percent of all leukemias. More than 90 percent of childhood acute myeloid leukemias (AML) are acute and the rest are chronic. Objective: To characterize acute leukemias in pediatric age in Cuba. Methods: Descriptive, longitudinal and retrospective study. The sample was 799 children from all over Cuba, who were treated in any of the country's seven pediatric hospitals accredited for the treatment of acute leukemias, between January 2006 and December 2015. As a summary measure for the quantitative variables, the mean and standard deviation were used. For all qualitative variables, the percentages of each group were calculated. Results: Incidence rates were 2.9 per 100,000 children. 95 percent were acute leukemias (70.6 percent lymphoid), with 34.9 percent corresponding to promyelocytic leukemia (PML) in AML. The male sex predominated and the average diagnosis age was 7.1 years. The percentage of complete remission in ALL was 91 percent, and 66.7 percent in AML. The frequency of disease relapse was 25.1 percent in ALL, 13.7 percent in LPM, and 45 percent in other myeloid leukemias. Overall and event-free survival was 89 percent and 63 percent in children with ALL, 64 percent and 62 percent in LPM, 38 percent and 36 percent in non-promyelocytic AML, respectively. Conclusions: Frequency and age distribution of leukemias in Cuban children are similar to that described worldwide. The results of treatment in acute leukemias in general can be considered as good(AU)


Subject(s)
Humans , Male , Female , Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis , Precursor Cell Lymphoblastic Leukemia-Lymphoma/epidemiology , Epidemiology, Descriptive , Retrospective Studies , Longitudinal Studies , Age Distribution
6.
Rev. bras. cancerol ; 65(4)20191216.
Article in Portuguese | LILACS | ID: biblio-1048480

ABSTRACT

Introdução: A leucemia linfoblástica aguda (LLA) é a neoplasia maligna mais comum em crianças e a principal causa de morte por câncer nessa faixa etária. A hipercalcemia associada a lesões osteolíticas francas é uma rara apresentação da LLA. Relato do Caso: Paciente de 9 anos, sexo masculino, 37kg, apresentava cefaleia, dor e impotência funcional em membro inferior direito há 15 dias. Exames laboratoriais evidenciaram elevação de velocidade de hemossedimentação e proteína C reativa com hipercalcemia. Nos exames de imagem, apresentava desmineralização óssea e lesões osteolíticas difusas. Aspirado de medula óssea (MO) evidenciou 10% de blastos, o que não caracterizou leucemia. Pela melhora do quadro clínico, o paciente seguiu com investigação diagnóstica ambulatorialmente. Biópsia de lesão lítica em quadril e novo aspirado de MO detectaram maior número de blastos e confirmaram o diagnóstico de LLA. Iniciou tratamento com protocolo do Grupo Brasileiro de Tratamento de Leucemias na Infância, 2009. Após dois anos, estava bem e sem doença. Conclusão:A hipercalcemia está associada a apenas 0,6% a 4,8% dos casos de LLA. O paciente em questão apresentava apenas dores ósseas difusas e hipercalcemia, sem a sintomatologia habitual, o que torna seu quadro clínico ainda mais raro, sendo tal apresentação muito escassa na literatura. Apesar de incomuns, hipercalcemia e lesões osteolíticas difusas podem ser as primeiras e únicas manifestações de LLA na faixa pediátrica. O presente relato torna-se importante ao auxiliar a formulação de diagnósticos precoces da leucemia infantil, mesmo na vigência de um quadro clínico atípico.


Introduction: Acute lymphoblastic leukemia (ALL) is the most common malignant neoplasm in children and the leading cause of cancer death in this age group. Hypercalcemia associated with frank osteolytic lesions is a rare presentation of ALL. Case Report: 9-year-old male, 37 kg, presented with headache, pain and functional impotence in the lower right leg for 15 days. Laboratory tests showed elevation of erythrocyte sedimentation rate and C-reactive protein with hypercalcemia. Imaging studies revealed bone demineralization and diffuse osteolytic lesions. Bone marrow aspiration showed 10% of blasts, which did not characterize leukemia. Due to the improvement of his clinical condition, the patient continued the clinical investigation as an outpatient. Biopsy of lytic lesion in the hip and new bone marrow aspirations detected higher number of blasts and confirmed the diagnosis of ALL. Treatment was initiated, following the protocol of the Brazilian Group of Treatment of Leukemia in Childhood, 2009. After two years, he was well and without disease. Conclusion: Hypercalcemia is associated with only 0.6% to 4.8% of all ALL cases. The patient presented only diffuse bone pain and hypercalcemia, without the usual symptoms, which makes his clinical condition even rarer, with such presentation being very scarce in the literature. Although uncommon, hypercalcemia and diffuse osteolytic lesions may be the first and only manifestations of ALL in the pediatric range. The present report is important in helping to formulate early diagnosis of childhood leukemia, even in the presence of an atypical clinical condition.


Introducción: La leucemia linfoblástica aguda (LLA) es la neoplasia maligna más común en los niños y principal causa de muerte por cáncer en ese grupo de edad. La hipercalcemia asociada a lesiones osteolíticas francas es una rara presentación de LLA. Relato del Caso: Paciente de 9 años, masculino, 37kg, presentaba cefalea, dolor e impotencia funcional en miembro inferior derecho hace 15 días. Los exámenes de laboratorio evidenciaron elevación de velocidad de sedimentación globular y proteína C reactiva con hipercalcemia. En los exámenes de imagen, presentaba esmineralización ósea y lesiones osteolíticas difusas. Aspirado de médula ósea (MO) evidenció el 10% de blastos, lo que no caracterizó la leucemia. Debido a la mejora del cuadro clínico, el paciente siguió la investigación diagnóstica ambulatoriamente. La biopsia de lesión lítica en cadera y nuevo aspirado de MO detectaron mayor número de blastos y confirmaron el diagnóstico de LLA. Se inició tratamiento con protocolo del Grupo Brasileño de Tratamiento de Leucemias en la Infancia, 2009. Conclusión: La hipercalcemia está asociada a sólo 0,6% a 4,8% de los casos de LLA. El paciente en cuestión presentaba sólo dolores óseos difusas e hipercalcemia, sin la sintomatología habitual, lo que hace el cuadro clínico del paciente aún más raro, siendo tal presentación muy escasa en la literatura. A pesar de inusual, hipercalcemia y lesiones osteolíticas difusas pueden ser las primeras y únicas manifestaciones de LLA en niños. El presente relato se vuelve importante al ayudar a la formulación de diagnósticos precoces de la leucemia infantil, incluso en la vigencia de un cuadro clínico atípico.


Subject(s)
Humans , Male , Child , Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis , Hypercalcemia/diagnosis , Osteolysis/diagnostic imaging , Precursor Cell Lymphoblastic Leukemia-Lymphoma/complications , Early Detection of Cancer , Hypercalcemia/etiology
7.
São Paulo; s.n; s.n; 2019. 94 p. graf, tab.
Thesis in Portuguese | LILACS | ID: biblio-1024757

ABSTRACT

L-asparaginase é um inibidor eficiente do crescimento tumoral, usado em sessões de quimioterapia contra a Leucemia Linfoblástica Aguda (LLA), resultando na remissão completa da doença em 90% dos pacientes tratados. A L-asparaginase II de Saccharomyces cerevisiae (ScASNaseII) tem alto potencial de superar os efeitos adversos da L-asparaginase de bactéria, porém sua produção endógena resulta em uma proteína hipermanosilada e, consequentemente, imunogênica. A cepa de Pichia pastoris Glycoswitch tem a maquinaria para expressar e secretar altas quantidades de enzima com glicosilação humanizada. Nesse trabalho, descrevemos o processo genético para expressar a ScASNaseII no meio extracelular pela P. pastoris Glycoswitch, e também os parâmetros bioquímicos, perfil cinético, citotoxicidade contra células leucêmicas e a interferência da glicosilação na atividade da enzima obtida. Nossos dados mostram que a cepa aplicada foi capaz de expressar ScASNaseII no meio extracelular passível de purificação de proteínas contaminantes com apenas um passo cromatográfico. A atividade específica para asparagina foi 218,2 UI/mg e a atividade glutaminásica representou 3,1% da atividade asparaginásica. Os parâmetros cinéticos foram KM = 120,5 µM e a eficiência catalítica de 3,8 x 105 M-1s-1. Análises por meio de gel nativo sugerem uma conformação tetramérica de aproximadamente 150 kDa. Essa é uma nova estratégia de produzir essa enzima de forma extracelular, com mais facilidade de purificação e com melhores propriedades biotecnológicas


L-asparaginase is an efficient inhibitor of tumor development, used in chemotherapy sessions against acute lymphoblastic leukemia (ALL) tumor cell; its use results in 90% complete remission of the disease in treated patients. Saccharomyces cerevisiae's L-asparaginase II (ScASNaseII) has a high potential to overcome the side effects of bacteria L-asparaginase, but the endogenous production of it results in hypermannosylated immunogenic enzyme. However, Pichia pastoris Glycoswitch strain has the machinery to express and secrete high quantity of the enzyme and with humanized glycosylation. Here we describe the genetic process to acquire the ScASNaseII in the extracellular medium expressed by P. pastoris Glycoswitch, and the biochemical properties of the resultant enzyme, kinetic profile, cytotoxicity against ALL cell line and the interference of glycosylation in its activity. Our data show that the strain employed is able to express extracellular asparaginase active and possible to be purified of contaminant proteins using a single chromatographic step. The specific activity using asparagine was 218.2 IU.mg-1 and the glutaminase activity represents 3.1% of its asparaginase activity. The kinetics parameters were KM=120.5 µM and a catalytic efficiency of 3.8x105 M-1s-1. The Native-PAGE suggested a tetrameric protein conformation, with approximately 150 kDa. This is a novel strategy to produce this enzyme extracellularly, easier to purify and with better biotechnological properties


Subject(s)
Pichia/isolation & purification , Asparaginase/analysis , Saccharomyces cerevisiae/isolation & purification , Glycosylation , Recombinant Proteins , Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis
8.
Rev. cuba. hematol. inmunol. hemoter ; 34(3): 1-12, jul.-set. 2018.
Article in Spanish | LILACS, CUMED | ID: biblio-985530

ABSTRACT

Las leucemias son un grupo heterogéneo de hemopatías con diversa etiología, patogenia, historia natural y pronóstico en las que se desencadena una proliferación clonal. La leucemia linfoblástica aguda (LLA) es el tipo de cáncer más común en los niños, se caracteriza por la infiltración de células neoplásicas del sistema hematopoyético a la médula ósea, sangre y otros tejidos. Fue considerada fatal hasta hace 30 años, hoy, la tasa de sobrevida a los 5 años supera el 70 por ciento, lo que implica que la mayoría de los pacientes puede curarse; sin embargo, la situación es diferente para la población infantil de los países en desarrollo. Se estima que la supervivencia al cáncer es entre 10 y 20 por ciento menor que para los infantes en países desarrollados. Uno de los marcadores de inmunofenotipo que ha cobrado mayor relevancia en los últimos años en el diagnóstico de LLA-B y seguimiento de la enfermedad mínima residual es el CD66c, este es una glicoproteína miembro de la familia del antígeno carcinoembrionario con función de adhesión celular y ampliamente utilizado como marcador tumoral que fue descubierto por SvenBerg a finales de los años 1970. Este antígeno se expresa en la superficie de los granulocitos y está implicado en varias funcionesbiológicas, que incluyen la adhesión celular, la migración, la transducción de señales y la regulación de la expresión génica. Este antígeno se presenta frecuentemente en varios tipos de cáncer y su sobrexpresión se asocia a menudo con pobre respuesta al tratamiento y disminución de la supervivencia de los pacientes. Diversos estudios evidencian que este marcador se relaciona con la presencia de diversas alteraciones cromosómicas como BCR-ABL, CRLF2, hiperdiploidía, que permiten orientar al pronóstico de la enfermedad(AU)


Leukemias are a heterogeneous group of blood diseases with a diverse etiology, pathogenesis, natural history and prognosis in which a clonal proliferation may be triggered. Acute lymphoid leukemia (ALL) is one of the most common types of cancer in children, it is characterized by the infiltration of neoplastic cells from the haematopoietic system to the bone marrow, blood and other tissues. Until 30 years ago, it was considered fatal; nowadays, the five-year survival rate exceeds 70 percent, which implies that most patients may heal. Nevertheless, in developing countries the situation might be different for pediatric population; it is estimated that cancer survival rate ranges between 10 and 20 percent less than those children living in developed countries. One of the immunophenotype markers that has been relevant in the last few years in the diagnosis of B-ALL and the follow-up of the minimal residual disease is CD66c. This is a member of the glycoprotein family from the carcinoembryonic antigen with a cellular adhesion function that has been widely used as a tumor marker as discovered by Sven Berg in the late 1970's. This antigen has been identified as a superficial protein expressed on the granulocytes and it is also involved in several biological functions, including cellular adhesion, migration, signal transduction and regulation of gene expression. This antigen is frequently presented in several types of cancer and its overexpression is often associated with a poor response to treatment and a decrease of survival rates for patients. Several studies have evidenced that this marker is relatedwith the presence of several chromosomal abnormalities, such as: BCR-ABL, CRLF2, and hyperdiploidy, which may help in the disease prognosis(AU)


Subject(s)
Humans , Biomarkers, Tumor/standards , Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis , Flow Cytometry/methods , Antigens/therapeutic use , Leukemia/epidemiology
10.
Rio de Janeiro; s.n; jul. 2017. 191 f p. tab, ilus.
Thesis in Portuguese | LILACS, BDENF | ID: biblio-876135

ABSTRACT

A família pode ser uma aliada importante na suspeição da leucemia ao narrar as manifestações dos primeiros sinais de adoecimento da criança para o profissional de saúde que a acompanha regularmente. Para evitar antecipações geradoras de pânico, sofrimento, angústias e desesperança, é preciso monitorar mais restritamente as necessidades da família e das crianças menores de cinco anos, por meio de uma comunicação terapêutica qualificada e construção de vinculo no território do cuidado. Investigaram-se como objeto de estudo as necessidades de familiares de crianças com leucemia linfoide aguda (LLA) no itinerário de cuidados em saúde, a partir dos primeiros sinais de adoecimento. Os objetivos foram: a) descrever o itinerário percorrido por familiares ou não para atender as necessidades da criança, quando perceberam os primeiros sinais de adoecimento; b) identificar, na narrativa dos familiares, aqueles sinais associados à suspeição, investigação e definição do diagnóstico de LLA; c) compreender a comunicação da notícia do diagnóstico; e d) analisar o itinerário do tratamento e a construção das redes na resolutividade do adoecimento da criança e da família. Método: Pesquisa qualitativa implementada com o método narrativo. Participaram sete familiares cuidadores de cinco crianças com LLA, entre junho e setembro de 2016, em cenários da comunidade de livre escolha dos residentes nas cidades do Rio de Janeiro e São Bernardo do Campo. As entrevistas narrativas, presenciais (6/7) e virtuais (1/7), foram mediadas pelas técnicas de criatividade e sensibilidade Mapa Falante e Corpo Saber. Pesquisa aprovada pelo Comitê de Ética em Pesquisa com o Parecer nº 1.517.322. A análise de conversação resultou em cinco unidades de análise: sinais de adoecimento; itinerário da suspeição ao diagnóstico; a comunicação da notícia; itinerário do tratamento e intercorrências; redes social e de apoio no itinerário de cuidados. Resultados: A memória dos primeiros sinais de adoecimento da criança os relacionou às doenças mais comuns na infância, sem associação inicial com a LLA. As boas condições de vida, acesso aos serviços privados x de saúde e tecnologia de investigação diagnóstica, vínculo da criança com um profissional de saúde de referência e autonomia contribuíram para que houvesse a suspeição e se iniciasse a investigação diagnóstica. A integralidade do cuidado foi determinante para que o diagnóstico e tratamento da LLA ocorressem em tempo oportuno. A comunicação da notícia do diagnóstico foi marcada pelo despreparo profissional. As redes de apoio e social contribuíram para a superação das adversidades e o impacto da doença na vida dos familiares e das crianças com LLA no itinerário de cuidados. Conclusão: As narrativas das famílias indicam a necessidade da realização de exame físico completo, comunicação e escuta terapêutica dos familiares, construção de vínculo e confiança com o enfermeiro e o médico; e monitoramento restrito da criança com LLA, em todo o curso da doença, do tratamento e na fase de monitoramento da sobrevivência.(AU)


Subject(s)
Humans , Child , Child Health , Family Health , Pediatric Nursing , Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis , Precursor Cell Lymphoblastic Leukemia-Lymphoma/nursing , Primary Health Care
11.
Rev. méd. Chile ; 145(6): 804-807, June 2017. tab
Article in Spanish | LILACS | ID: biblio-902548

ABSTRACT

Hematological diseases may cause acute hepatic failure and are seldom sought. We report two cases illustrating this situation. A 16-year-old male presented with an acute liver failure: a bone marrow biopsy showed complete infiltration with lymphoid type blasts. A flow cytometry confirmed the presence of an acute lymphoblastic leukemia. The patient died days later. A 20-year-old female presented with acute liver failure: due to a pancytopenia, a bone marrow biopsy was performed, which confirmed the presence of an acute lymphoblastic leukemia. Chemotherapy was started immediately. The patient had a favorable evolution.


Subject(s)
Humans , Male , Female , Adolescent , Adult , Young Adult , Liver Failure, Acute/etiology , Precursor Cell Lymphoblastic Leukemia-Lymphoma/complications , Pancytopenia/blood , Liver Failure, Acute/diagnosis , Fatal Outcome , Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis , Flow Cytometry , Clinical Deterioration
12.
Rio de Janeiro; s.n; 2017.
Thesis in Portuguese | LILACS, Inca | ID: biblio-943735

ABSTRACT

Introdução: Leucemia é o câncer mais comum em crianças e a principal causa de óbito relacionada ao câncer na infância. A sobrevida das crianças com leucemia tem melhorado de forma significativa, entretanto, ainda permanece abaixo de 50% na maioria dos países com recursos limitados. Objetivo: Descrever o perfil epidemiológico, incidência, mortalidade, sobrevida das leucemias agudas e os fatores de risco para o óbito em crianças e adolescentes com leucemia mieloide aguda (LMA) em Pernambuco. Metodologia: a) coorte retrospectiva com crianças e adolescentes (0-19 anos), a partir das informações do Registro de Câncer de Base populacional (RCBP) do Recife (período de 1998 - 2007). As tendências da incidência e da mortalidade foram avaliadas utilizando-se o método Joinpoint. A sobrevida relativa foi calculada, utilizando-se a tábua completa de mortalidade disponível no Instituto Brasileiro de Geografia Estatística (IBGE) para o Brasil em 2010. b) Foram analisados o risco cumulativo de óbito precoce (até 6 semanas do diagnóstico) e a sobrevida global (SG) e livre de eventos (recidiva, segunda neoplasia ou óbito) pelo método de Kaplan Meier para leucemia promielocítica aguda (LPA), LMA da síndrome de Down (LMA-SD) e outros subtipos (exceto LMASD e LPA) e os fatores preditivos para o óbito, por características do diagnóstico utilizando-se a regressão multivariada de Cox, distintamente para leucemia promielocítica aguda (LPA) e para outros subtipos de LMA a partir de uma coorte de crianças diagnosticadas entre 2000-2014 com LMA e acompanhadas no Instituto de Medicina Integral Prof. Fernando Figueira (IMIP). Resultados: a) o estudo de base populacional envolveu 175 casos. A taxa de incidência para leucemias foi de 41,1/milhão de habitantes menores de 20 anos, com pico de incidência de 78,3/milhão na faixa de 1 a 4 anos....


Introduction Leukemia is the most common cancer in children and the leading cause of cancerrelateddeath in childhood, with a variable incidence worldwide. The survival rates for children with leukemia have significantly improved. However, it remains below 50% in most countries with limited resources. Objective The aim of the study was to describe the epidemiological profile, incidence,mortality, survival, and risk factors for death in children and adolescents with acute myeloid leukemia (AML) in Pernambuco, Brazil. Methodology Two studies were conducted. a) The first study included a retrospective cohort of children and adolescents aged 0–19 years, based on the data obtained fromthe population-based cancer registry in Recife (1998–2007). Joinpoint method was used to evaluate the incidence and mortality trends. The relative survival was calculated using the complete mortality table available at the Instituto Brasileiro de Geografia e Estatística for Brazil in 2010. b) The second study included a cohort of children who were diagnosed with AML between 2000 and 2014 and treated at the Instituto de Medicina Integral Prof. Fernando Figueira - IMIP. The cumulative risk ofearly death (until 6 weeks of diagnosis), overall survival (OS), and event-free survival (EFS) considered as recurrence, second neoplasia, or death for acute promyelocytic leukemia (APL), AML with Down syndrome (AML-DS), and other subtypes (except AML-DS and APL) were analyzed using the Kaplan-Meier method. Cox multivariate regression model was used to identify factors predictive of death, by the characteristics of the diagnosis, distinctly for APL and for the othersubtypes of AML...


Subject(s)
Humans , Male , Female , Child , Adolescent , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis , Precursor Cell Lymphoblastic Leukemia-Lymphoma/etiology , Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics , Precursor Cell Lymphoblastic Leukemia-Lymphoma/mortality
14.
Article in English | WPRIM | ID: wpr-59846

ABSTRACT

BACKGROUND: Intrachromosomal amplification of chromosome 21 (iAMP21) is known to be associated with poor prognosis in B-cell ALL (B-ALL). To determine the frequency and clinical characteristics of iAMP21 in Korean B-ALL patients, we performed FISH and multiplex ligation-dependent probe amplification (MLPA) analyses. METHODS: A total of 102 childhood B-ALL patients were screened with ETV6-RUNX1 FISH probes (Abbott Molecular, USA). The presence of an iAMP21 was confirmed by using MLPA P327 iAMP21-ERG probemix (MRC Holland, The Netherlands). RESULTS: iAMP21 was detected in one of the screened B-ALL patients (1/102 patients, 1.0%) who presented the ALL immunophenotype and complex karyotype at initial diagnosis. The patient relapsed twice after bone marrow transplantation. MLPA showed 12.5-Mb and 4.28-Mb regions of amplification and deletion, respectively. CONCLUSIONS: The frequency of iAMP21 is considerable in Korean pediatric patients. Our report suggests that iAMP21 in childhood B-ALL has very unfavorable impact on patient's prognosis. Additional methods such as MLPA analysis is essential to rule out patients with equivocal interphase FISH results.


Subject(s)
Adolescent , Asian Continental Ancestry Group/genetics , B-Lymphocytes/metabolism , Child , Child, Preschool , Chromosomes, Human, Pair 21 , Core Binding Factor Alpha 2 Subunit/genetics , DNA Probes/metabolism , Female , Humans , Immunophenotyping , In Situ Hybridization, Fluorescence , Infant , Infant, Newborn , Male , Multiplex Polymerase Chain Reaction , Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis , Proto-Oncogene Proteins c-ets/genetics , Repressor Proteins/genetics , Republic of Korea , Translocation, Genetic , Young Adult
15.
Rev. bras. ter. intensiva ; 27(4): 402-405, out.-dez. 2015. tab, graf
Article in English | LILACS | ID: lil-770051

ABSTRACT

RESUMO A hipercalcemia é um distúrbio metabólico raro em pediatria, potencialmente fatal, apresentando um vasto diagnóstico diferencial, incluindo neoplasias. Relatamos aqui o caso de uma criança de 3 anos, previamente saudável, admitida no serviço de urgência por fadiga, hiporreatividade, febre e claudicação da marcha com 5 dias de evolução, de agravamento progressivo. À observação, apresentava-se inconsciente (escore de coma Glasgow: 8). Laboratorialmente, apresentava hipercalcemia grave (cálcio total 21,39mg/dL, ionizado 2,93mmol/L) e anemia microcítica. Iniciou hiper-hidratação e foi transferido para a unidade de cuidados intensivos pediátricos. Instituiu-se hemodiafiltração venovenosa contínua com soluto livre de cálcio, ocorrendo a progressiva normalização da calcemia, com melhoria do estado de consciência. Administrou-se zolendronato. Excluíram-se causas metabólicas, infecciosas e intoxicação. O mielograma permitiu o diagnóstico de leucemia linfoblástica aguda. A hipercalcemia associada à malignidade em pediatria é rara, ocorrendo como forma de apresentação da neoplasia ou na recorrência desta. Em situações com risco de vida iminente, deve se considerar hemodiafiltração venovenosa contínua.


ABSTRACT Hypercalcemia is a rare metabolic disorder in children and is potentially fatal. It has a wide differential diagnosis, including cancer. Here, we report the case of a previously healthy 3-year-old who was admitted to the emergency room with fatigue, hyporeactivity, fever and limping gait that had evolved over 5 days and that was progressively worsening. On examination the patient was unconscious (Glasgow coma score: 8). Laboratory tests indicated severe hypercalcemia (total calcium 21.39mg/dL, ionized calcium 2.93mmol/L) and microcytic anemia. Hyperhydration was initiated, and the child was transferred to the pediatric intensive care unit. Continuous venovenous hemodiafiltration with calcium-free solution was instituted, which brought progressive normalization of serum calcium and an improved state of consciousness. Zoledronate was administered, and metabolic and infectious causes and poisoning were excluded. The bone marrow smear revealed a diagnosis of acute lymphoblastic leukemia. Hypercalcemia associated with malignancy in children is rare and occurs as a form of cancer presentation or recurrence. Continuous venovenous hemodiafiltration should be considered in situations where there is imminent risk to life.


Subject(s)
Humans , Male , Child, Preschool , Hemodiafiltration/methods , Williams Syndrome/etiology , Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis , Diphosphonates/therapeutic use , Bone Density Conservation Agents/therapeutic use , Precursor Cell Lymphoblastic Leukemia-Lymphoma/complications , Zoledronic Acid , Hypercalcemia/therapy , Imidazoles/therapeutic use
17.
Arch. argent. pediatr ; 113(4): 331-336, ago. 2015. graf, tab
Article in English, Spanish | LILACS, BINACIS | ID: lil-757045

ABSTRACT

Introducción. El reconocimiento de la sintomatología inicial de la leucemia linfoblástica aguda (LLA) podría contribuir a su diagnóstico temprano. Este estudio busca identificar las manifestaciones clínicas que anteceden al diagnóstico de la LLA pediátrica desde la perspectiva materna y determinar el tiempo transcurrido desde la primera manifestación hasta el diagnóstico. Métodos. Estudio de casos. Seis hospitales ubicados en Bogotá y Bucaramanga (Colombia) participaron. Los casos fueron menores de 15 años con diagnóstico incidente de LLA entre enero de 2000 y marzo de2005. Una entrevista realizada a la madre recolectó información sobre características sociodemográficas, manifestaciones clínicas prediagnósticas, primer síntoma y tiempo hasta el diagnóstico. Se calcularon medianas, rangos y proporciones. Los valores p menores de 0,05 fueron considerados significativos. Resultados. Se analizaron 128 casos. La palidez (83,6%), la pérdida del apetito (72,6%), la pérdida de peso (62,5%) y el sangrado en piel (39,1%) fueron los síntomas más frecuentes antes del diagnóstico. La demora entre la aparición del primer síntoma y el diagnóstico de la LLA depende de cuál es la primera manifestación y ella es menor cuando hay evidencia de hemorragia (mediana= 14 días). La presencia de ganglios palpables en las axilas fue más significativa en niñas que en niños (p= 0,04). Conclusión. La sintomatología de la LLA pediátrica en su etapa prediagnóstica no es específica de esta enfermedad; no obstante, el signo clínico y el tiempo desde su aparición podrían llegar a ser orientadores en la fase temprana de la enfermedad.


Introduction. Recognizing early symptoms of acute lymphoblastic leukemia (ALL) may help to make an early diagnosis. The objective of this study is to identify clinical manifestations preceding the diagnosis of childhood ALL from the maternal perspective and to establish the time elapsed from the first manifestation to the diagnosis. Methods. Case study. Six hospitals located in Bogotá and Bucaramanga (Colombia) participated. Cases consisted of children under 15 years old with incidental diagnosis of ALL between January 2000 and March 2005. Data on sociodemographic characteristics, pre diagnostic clinical manifestations, first symptom, and time to diagnosis were collected during interviews with mothers. Medians, ranges and proportions were estimated. P values below 0.05 were considered significant. Results. One hundred and twenty-eight cases were analyzed. Pallor (83.6%), loss of appetite (72.6%), weight loss (62.5%), andbleeding into the skin (39.1%) were the most common symptoms preceding diagnosis. The delay between the occurrence of the first symptom and the diagnosis of ALL depends on what the first manifestation is, and it maybe shorter when there is evidence of hemorrhage (median= 14 days). The presence of palpable lymph nodes in the armpits was more significant in girls than in boys (p= 0.04). Conclusion. Childhood ALL symptomatology in the prediagnostic stage is not specific to this disease; however, the clinical sign and time since its occurrence may serve as a guide in the early stage of this disease.


Subject(s)
Humans , Child, Preschool , Child , Adolescent , Leukemia, Lymphoid , Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis , Mothers
18.
Med. interna (Caracas) ; 31(2): 112-115, 2015. ilus, tab
Article in Spanish | LILACS | ID: lil-777828

ABSTRACT

La tuberculosis pericárdica es una presentación poco frecuente de infecciones causadas por especies de Micobacterias. Se presenta el caso de una paciente femenina de 43 años de edad con antecedentes de Leucemia linfocítica aguda en remisión completa, en fase de mantenimiento con Dasatinib durante cuatro años: había derrame pleural derecho como efecto secundario, y consultó por presentar disnea progresiva, concomitante fiebre de 39ºC precedida por escalofríos, sin patrón horario asociándose a las 72 horas exacerbación del patrón de disnea hasta la ortopnea y disminución del volumen urinario motivo por el cual es traída a nuestro centro. Durante su estancia hospitalaria se realiza TC de tórax hallándose de manera incidental la existencia de derrame pericárdico, se realiza ecoscopia donde se visualiza derrame pericárdico importante a predominio posterior, de 27 mm de volumen con colapso de cavidades cardíacas derechas, estableciéndose el diagnóstico de taponamiento cardíaco. Se realiza pericardiocentesis con obtención de 720 cc de liquido pericárdico turbio. 72 horas posterior al procedimiento presenta nuevo episodio de taponamiento cardíaco realizándose ventana pleuropericárdica; el ADA de líquido pericárdico reportó valores 2 veces superior a limite de corte; el resultado de la biopsia de pericardio reportó fibrosis pericárdica. En vista de hallazgos clínicos y paraclínicos se planteó el diagnóstico de Pericarditis tuberculosa.


Pleuropericardial tuberculosis is a rare presentation of infections caused by Micobacterias. The case of a 43 years - old female patient with a history of acute lymphocytic leukemia in complete remission in the maintenance phase with dasatinib for four years with right pleural effusion is presented. She consulted for progressive dyspnea; there was also fever (39ºC) and chills. Within 72 hours orthopnoea and decreased urine volume appeared. During her hospital stay a chest CT showed the existence of pericardial effusion, and endoscopy confirmed severe pericardial effusion of 27 mm with right-sided heart collaps, and because the diagnosis of cardiac taponade was made pericardiocentesis was performed, obtaining 720 cc of pericardial turbid fluid; after s 72 hours after a new episode of cardiac taponade occurred, so that a pleuropericardial window was done. ADA values reported 2 times higher cutting; pericardial biopsy reported pericardial fibrosis. In view of these findings, clinical and laboratory diagnosis of tuberculous pericarditis was established.


Subject(s)
Humans , Adult , Female , Pericardial Effusion/pathology , Precursor Cell Lymphoblastic Leukemia-Lymphoma/complications , Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis , Pericarditis, Constrictive/pathology , Tuberculosis , Cardiac Tamponade/therapy , Dyspnea/pathology , Fever/pathology
19.
Article in English | WPRIM | ID: wpr-64358

ABSTRACT

We report three patients with normal karyotype (NK) ALL, who showed genetic aberrations as determined by high-resolution single nucleotide polymorphism array (SNP-A) analysis at both diagnosis and relapse. We evaluated the clinical relevance of the SNP-A assay for the detection of subtle changes in the size of affected genetic lesions at relapse as well as the prognostic value of the assay. In our patients, application of the SNP-A assay enabled sensitive detection of cryptic changes affecting clinically important genes in NK ALL. Therefore, this assay seems to be more advantageous compared to other conventional methods such as FISH assay, HemaVision (DNA Technology, Denmark), and conventional karyotyping for the detection of an "unstable genotype" at relapse, which may be associated with microscopic clonal evolution and poor prognosis. Further comprehensive studies are required to confirm the issues presented by our case patients in this report.


Subject(s)
Adult , Cyclin-Dependent Kinase Inhibitor p16/genetics , Female , Genotype , Humans , In Situ Hybridization, Fluorescence , Karyotype , Karyotyping , Loss of Heterozygosity , Male , Middle Aged , Oligonucleotide Array Sequence Analysis , Polymorphism, Single Nucleotide , Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis , Recurrence , Retinoblastoma Protein/genetics
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