Ultraconserved long non-coding RNA uc 112 is highly expressed in childhood T versus B-cell acute lymphoblastic leukemia

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.

Osteoartrite: Análise Citogenética / Osteoarthritis: Cytogenetic analysis

Introdução: a osteoartrite (OA) é uma doença degenerativa, caracterizada por degradação da matriz extracelular e a perda de um fenótipo condrogênico na cartilagem, com etiologia complexa, a qual envolve fatores genéticos, epigenéticos e ambientais. Objetivo: foi a análise citogenética em OA para detecção de alterações cromossômicas consistentes para estudos de biomarcadores e melhor entendimento da etiologia desta doença. Métodos: material obtido de lesão, com estudo histopatológico confirmando a OA, na articulação talonavicular direita de paciente, com 31 anos de idade, foi submetido à análise citogenética realizada a partir de cultura de células e bandamento GTG das metáfases. Resultados: o cariótipo composto evidenciou monossomia clonal dos cromossomos X, 1, 6, 9, 11, 13, 14 e 15, além das alterações estruturais de adição em 16q e 22p, deleção do 17p (com ponto de quebra que envolve o gene TP53) e 9qh+ (com envolvimento de 9q onde estão mapeados loci associados à OA). Conclusão: foram encontradas alterações cromossômicas já descritas na literatura para OA e outras ainda não referidas, mas anteriormente encontradas em outras doenças. As análises genética e epigenética da OA podem auxiliar na descoberta de biomarcadores de prognóstico e ser utilizadas, futuramente, na rotina médica para um melhor manejo dos pacientes.

Introduction: Osteoarthritis (OA) is a degenerative disease, characterized by extracellular matrix degradation and loss of a chondrogenic phenotype in the cartilage. OA has a complex etiology involving genetic, epigenetic, and environmental factors. Objective: the main aim of our study was the cytogenetic analysis in OA for detection of consistent chromosomal abnormalities for biomarker studies. Methods: a sample, with histopathology analysis confirming OA, was obtained from the right talonavicular joint of a 31-yearold female patient. Cytogenetic analysis was carried out after cell culture and GTG banding. Results: The clonal numerical alterations were monosomies of chromosomes X, 1, 6, 9, 11, 13, 14 and 15. We detected an addition material on 16q, and 22p, deletion of the 17p (with the breakpoint involving the TP53 gene) and 9qh + (significant loci on chromosome 9q have been associated with OA). Conclusion: we found chromosomal aberrations reported in the literature and other alterations not yet described, but previously reported in other diseases. Genetic and epigenetic analysis of OA may allow the discovery of prognostic biomarkers and they could influence, in the future, the medical routine for better management of patients.

Moyamoya syndrome associated with neurofibromatosis type I in a pediatric patient / Síndrome de moyamoya associada a neurofibromatose tipo I em paciente pediátrico

CONTEXT: Neurofibromatosis type 1 (NF-1) is the most prevalent autosomal dominant genetic disorder among humans. Moyamoya disease is a cerebral vasculopathy that is only rarely observed in association with NF-1, particularly in the pediatric age range. The present study reports an occurrence of this association in an infant. CASE REPORT: An eight-month-old female presented convulsive seizures with clonic movements. The patient suffered an ischemic stroke with hemiparesis. Magnetic resonance imaging revealed radiological findings compatible with moyamoya disease. The diagnosis of NF-1 was made at the age of 20 months. CONCLUSION: Despite the rarity of this association in childhood, children with focal neurological symptoms and a diagnosis of NF-1 deserve to be investigated for moyamoya syndrome.

CONTEXTO: Neurofibromatose tipo 1 (NF-1) é a doença genética autossômica dominante mais prevalente no ser humano. A doença de moyamoya é uma vasculopatia cerebral que raramente se encontra associada à NF-1, particularmente na faixa etária pediátrica. Este estudo descreve a ocorrência desta associação em um lactente. RELATO DE CASO: Paciente feminina, aos oito meses de idade, apresentou quadro de crise convulsiva com movimentos clônicos. Evoluiu com acidente vascular encefálico isquêmico e com hemiparesia à direita. Ressonância nuclear magnética mostrou achados compatíveis com a doença de moyamoya. O diagnóstico de NF-1 foi realizado aos 20 meses de vida. CONCLUSÃO: Apesar da raridade desta associação na faixa etária infantil, crianças com sintomas neurológicos focais e diagnóstico de NF-1 merecem ser investigadas para síndrome de moyamoya.

Antiproliferative effects of Tubi-bee propolis in glioblastoma cell lines

Propolis is a resin formed by a complex chemical composition of substances that bees collect from plants. Since ancient times, propolis has been used in folk medicine, due to its biological properties, that include antimicrobial, anti-inflammatory, antitumoral and immunomodulatory activities. Glioblastoma is the most common human brain tumor. Despite the improvements in GBM standard treatment, patients' prognosis is still very poor. The aim of this work was to evaluate in vitro the Tubi-bee propolis effects on human glioblastoma (U251 and U343) and fibroblast (MRC-5) cell lines. Proliferation, clonogenic capacity and apoptosis were analyzed after treatment with 1 mg/mL and 2 mg/mL propolis concentrations for different time periods. Additionally, glioblastoma cell lines were submitted to treatment with propolis combined with temozolomide (TMZ). Data showed an antiproliferative effect of tubi-bee propolis against glioblastoma and fibroblast cell lines. Combination of propolis with TMZ had a synergic antiproliferative effect. Moreover, propolis caused decrease in colony formation in glioblastoma cell lines. Propolis treatment had no effects on apoptosis, demonstrating a cytostatic action. Further investigations are needed to elucidate the molecular mechanism of the antitumor effect of propolis, and the study of its individual components may reveal specific molecules with antiproliferative capacity.

Frequency of polymorphisms and protein expression of cyclin-dependent kinase inhibitor 1A (CDKN1A) in central nervous system tumors / Frequência dos polimorfismos e da expressão protéica do inibidor de quinase dependente de ciclina 1A (CDKN1A) em tumores do sistema nervoso central

Context and objective: Genetic investigation of central nervous system (CNS) tumors provides valuable information about the genes regulating proliferation, differentiation, angiogenesis, migration and apoptosis in the CNS. The aim of our study was to determine the prevalence of genetic polymorphisms (codon 31 and 3' untranslated region, 3'UTR) and protein expression of the cyclin-dependent kinase inhibitor 1A (CDKN1A) gene in patients with and without CNS tumors. Design and setting: Analytical cross-sectional study with a control group, at the Molecular Biology Laboratory, Pediatric Oncology Department, Hospital das Clínicas de Ribeirão Preto. Methods: 41 patients with CNS tumors and a control group of 161 subjects without cancer and paires for sex, age and ethnicity were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Protein analysis was performed on 36 patients with CNS tumors, using the Western Blotting technique. Results: The frequencies of the heterozygote (Ser/Arg) and polymorphic homozygote (Arg/Arg) genotypes of codon 31 in the control subjects were 28.0 percent and 1.2 percent, respectively. However, the 3'UTR site presented frequencies of 24.2 percent (C/T) and 0.6 percent (T/T). These frequencies were not statistically different (P > 0.05) from those seen in the patients with CNS tumors (19.4 percent and 0.0 percent, codon 31; 15.8 percent and 2.6 percent, 3'UTR site). Regarding the protein expression in ependymomas, 66.67 percent did not express the protein CDKN1A. The results for medulloblastomas and astrocytomas were similar: neither of them expressed the protein (57.14 percent and 61.54 percent, respectively). Conclusion: No significant differences in protein expression patterns or polymorphisms of CDKN1A in relation to the three types of CNS tumors were observed among Brazilian subjects.

Contexto e objetivo: A investigação genética dos tumores do sistema nervoso central (SNC) provê valiosa informação sobre os genes que regulam a proliferação, diferenciação, angiogênese, migração e apoptose. O objetivo deste estudo é determinar a prevalência entre os polimorfismos genéticos (códon 31 e da região 3' não traduzida, 3'UTR) e a expressão protéica do gene inibidor de quinase dependente de ciclina 1A (CDKN1A) em pacientes com e sem tumor do SNC. Tipo de estudo e local: Estudo transversal analítico com grupo controle, desenvolvido no Laboratório de Biologia Molecular do Departamento de Oncologia Pediátrica do Hospital das Clínicas de Ribeirão Preto. Métodos: 41 pacientes com tumor do SNC e um grupo controle de 161 indivíduos sem câncer pareados por idade, sexo e etnia foram genotipados mediante uma reação de polimorfismo no comprimento de fragmentos de restrição (RFLP). A análise das proteínas foi realizada em 36 pacientes com tumor de SNC mediante Western Blotting. Resultados: A frequência do genótipo heterozigoto (Ser/Arg) e do homozigoto polimórfico (Arg/Arg) do códon 31 nos controles foi 28,0 por cento e 1,2 por cento, respectivamente. Entretanto, o sítio 3'UTR apresentou uma frequência de 24,2 por cento (C/T) e 0,6 por cento (T/T). Estas frequências não são significativamente diferentes (P > 0,05) daquelas observadas no grupo dos pacientes com tumor de SNC (19,4 por cento e 0,0 por cento, códon 31; 15,8 por cento e 2,6 por cento, sítio 3'UTR). Com respeito à expressão protéica, nos ependimomas, 66,67 por cento não expressaram a proteína CDKN1A. Estes resultados foram similares entre os meduloblastomas e os astrocitomas, os quais não expressaram a proteína com 57,14 por cento e 61,54 por cento, respectivamente. Conclusão: Não foram encontradas diferenças significativas entre o padrão de expressão protéica, polimorfismos de CDKN1A e os três tipos de tumores de SNC em indivíduos brasileiros.

MLL leukemia-associated rearrangements in peripheral blood lymphocytes from healthy individuals

Chromosomal translocations are characteristic of hematopoietic neoplasias and can lead to unregulated oncogene expression or the fusion of genes to yield novel functions. In recent years, different lymphoma/leukemia-associated rearrangements have been detected in healthy individuals. In this study, we used inverse PCR to screen peripheral lymphocytes from 100 healthy individuals for the presence of MLL (Mixed Lineage Leukemia) translocations. Forty-nine percent of the probands showed MLL rearrangements. Sequence analysis showed that these rearrangements were specific for MLL translocations that corresponded to t(4;11)(q21;q23) (66 percent) and t(9;11) (20 percent). However, RT-PCR failed to detect any expression of t(4;11)(q21;q23) in our population. We suggest that 11q23 rearrangements in peripheral lymphocytes from normal individuals may result from exposure to endogenous or exogenous DNA-damaging agents. In practical terms, the high susceptibility of the MLL gene to chemically-induced damage suggests that monitoring the aberrations associated with this gene in peripheral lymphocytes may be a sensitive assay for assessing genomic instability in individuals exposed to genotoxic stress.

Cytogenetics in pediatric medulloblastomas

A meduloblastoma é um tipo de tumor frequentemente encontrada na infância e adolescência. É geralmente encontrada na fossa posterior (também conhecida como o compartilhamento infratentorial) e afeta, principalmente, o cerebelo. Embora um progresso significativo tenha sido alcançado no tratamento destes pacientes, muitos aspectos do comportamento biológico deste tumor ainda estão incertos. Portanto o estudo dos eventos genéticos envolvidos nestas neoplasias poderia ser considerado uma ferramenta útil na compreensão destes tumores, desde que, o comportamento biológico de um tumor passou a ser determinado pelas suas alterações genéticas. Em meduloblastoma, a alteração observada com maior frequência é um isocromossomo 17, mas sozinha esta aberração não constitui um fator prognóstico; apenas reflete uma proliferação celular desenfreada. Vários genes (por exemplo, TP53, ABR e HIC-1) parecem estar relacionados à gênese destes tumores, mas estudos mais aprofundados são necessários para esclarecer o assunto. Os avanços no campo de citogenética molecular tem permitido a gênese de processos de proliferação. Portanto, o objetivo desta revisão é apresentar uma revisão atualizada da literatura sobre meduloblastoma.

Review article: chromosomal diagnosis in rhabdomyosarcoma

Os rabdomiossarcomas (RMS) são considerados tumores clinicamente agressivos com origem a partir de células mesenquimais imaturas e que se caracterizam pela presença de células com diferenciação pouco definida. O emprego das técnicas citogenéticas convencionais em RMS vem contribuindo consideravelmente para a diferenciação entre os rabdomiossarcomas alveolares e os outros tumores de células pequenas e redondas, além de fornecer informações prognósticas importantes referente ao rabdomiossarcoma do tipo alveolar. Assim, este trabalho visa a realizar uma revisão das alterações citogenéticas observadas nos diferentes subtipos histológicos de RMS, enfocando não só os trabalhos de citogenética convencional, mas também novas abordagens utilizadas para o estudo de neoplasias tais como FISH, CGH, SKY e M-FISH. Tais metodologias vêm contribuindo de maneira significativa para a melhor compreensão da heterogeneidade cariotípica observada nos RMS.

Molecular analysis of the most prevalent mutations of the FANCA and FANCC genes in Brazilian patients with Fanconi anaemia

Fanconi anaemia (FA) is a recessive autosomal disease determined by mutations in genes of at least eleven complementation groups, with distinct distributions in different populations. As far as we know, there are no reports regarding the molecular characterisation of the disease in unselected FA patients in Brazil. OBECTIVE: This study aimed to investigate the most prevalent mutations of FANCA and FANCC genes in Brazilian patients with FA. METHODS: Genomic DNA obtained from 22 racially and ethnically diverse unrelated FA patients (mean age ± SD: 14.0 ± 7.8 years; 10 male, 12 female; 14 white, 8 black) was analysed by polymerase chain reaction and restriction site assays for identification of FANCA (delta3788-3790) and FANCC (delta322G, IVS4+4A -> T, W22X, L496R, R548X, Q13X, R185X, and L554P) gene mutations. RESULTS: Mutations in FANCA and FANCC genes were identified in 6 (27.3 percent) and 14 (63.6 percent) out of 22 patients, respectively. The disease could not be attributed to the tested mutations in the two remaining patients enrolled in the study (9.1 percent). The registry of the two most prevalent gene abnormalities (delta3788-3790 and IVS4 + 4 -> T) revealed that they were present in 18.2 percent and 15.9 percent of the FA alleles, respectively. Additional FANCC gene mutations were found in the study, with the following prevalence: delta322G (11.4 percent), W22X (9.1 percent), Q13X (2.3 percent), L554P (2.3 percent), and R548X (2.3 percent) of total FA alleles. CONCLUSION: These results suggest that mutations of FANCA and FANCC genes are the most prevalent mutations among FA patients in Brazil.

Multiple drug resistance protein (MDR-1), multidrug resistance-related protein (MRP) and lung resistance protein (LRP) gene expression in childhood acute lymphoblastic leukemia

CONTEXTO: Apesar dos avanços nos índices de cura da leucemia linfoblástica aguda (LLA) aproximadamente 25% das crianças sofrem recaídas da doença. A expressão dos genes de resistência múltipla a drogas (MDR-1), genes relacionados à proteína de resistência múltipla a drogas (MRP) e genes da proteína de resistência pulmonar (LRP) podem conferir o fenótipo de resistência ao tratamento das neoplasias. OBJETIVO: Analisar a expressão dos genes de resistência MDR-1, MRP e LRP em crianças diagnosticadas com LLA por meio da técnica da reação em cadeia da polimerase da transcriptase reversa (RT-PCR) semiquantitativa, associando estas expressões à sobrevida livre de eventos (SLE) e a variáveis clínico-laboratoriais. TIPO DE ESTUDO: Estudo clínico retrospectivo. LOCAL: Laboratório de Oncologia Pediátrica do Departamento de Puericultura e Pediatria da Faculdade de Medicina de Ribeirão Preto - Universidade de São Paulo, Brasil. MÉTODOS: Amostras de medula óssea de 30 crianças com o diagnóstico de leucemia linfoblástica aguda foram avaliadas quanto à expressão do RNA-mensageiro para os genes MDR-1, MRP e LRP, pela reação em cadeia da RT-PCR semiquantitativa. RESULTADOS: Dos três genes estudados, somente a expressão aumentada de LRP esteve relacionada a uma pior SLE (p = 0.005). A presença do antígeno para leucemia linfoblástica aguda comum (CALLA) se correlacionou à expressão aumentada de LRP (p = 0.009) e a risco aumentado de ocorrência de recaída ou óbito (p = 0.05). O risco relativo de ocorrência de recaída ou óbito é seis vezes maior em crianças com alta expressão de LRP ao diagnóstico (p = 0.05), o que se confirma na análise multivariada dos três genes estudados (p = 0.035). DISCUSSAO: A resistência celular a drogas é um determinante de resposta ao tratamento oncológico e sua avaliação por RT-PCR pode ser de importância. CONCLUSÕES: A avaliação da expressão dos genes de resistência a drogas antineoplásicas na leucemia linfoblástica aguda da criança ao diagnóstico, particularmente do gene LRP, pode ser de relevância clínica e deve ser objeto de estudos prospectivos.

Inactivation of the p15 gene in children with acute lymphoblastic leukemia

CONTEXT: Tumor suppressor genes act on the control of cell cycle progression. In pediatric neoplasias, some of these genes may be considered to be markers for diagnosis or relapse, thus probably representing prognostic indicators. OBJECTIVE: To study the inactivation of the p15 gene in children with acute lymphoblastic leukemia. TYPE OF STUDY: Retrospective study. SETTING: Laboratory of Molecular Biology, Department of Pediatrics, Faculdade de Medicina de Ribeiräo Preto, Universidade de Säo Paulo. PARTICIPANTS: Eighty-three children and adolescents with acute lymphoblastic leukemia were studied, with the examination of 83 bone marrow samples obtained at diagnosis, four obtained also during relapse, and two cerebrospinal fluid samples obtained from two cases of isolated relapse in the central nervous system. MAIN MEASUREMENTS: Homologous deletion of the p15 gene by multiplex polymerase chain reaction, and screening for point mutations by polymerase chain reaction/single-strand conformational polymorphism. RESULTS: Deletion of exon 2 of the p15 gene was observed in 15 children, including one case in which deletion was only verified during isolated central nervous system relapse. No case of exon 1 deletion, or that was suggestive of point mutations, was observed and no association between p15 gene inactivation and classic risk factors was established. CONCLUSION: According to the literature, inactivation of the p15 gene by deletion of exon 2 in acute lymphoblastic leukemia found in the population studied would be considered to be a molecular marker for diagnosis or relapse. However, no correlation between p15 gene deletion and clinical prognostic indicators was observed

Analysis of p16 gene mutations and deletions in childhood acute lymphoblastic leukemias

CONTEXT: The p16 tumor suppressor gene encodes a cyclin-dependent kinase 4 inhibitor that blocks cell division during the G1 phase of the cell cycle. Alterations in this gene have been reported for various neoplasia types, including acute lymphoblastic leukemias (ALL), especially T-cell acute lymphoblastic leukemias (ALL). OBJECTIVE: To determine probable alterations in the p16 gene in children with acute lymphoblastic leukemias using the polymerase chain reaction (PCR) and direct DNA sequencing and also to analyze event-free survival (EFS). DESIGN: Retrospective study. SETTING: Department of Child Care and Pediatrics, Faculty of Medicine of Ribeirão Preto, Universidade Federal de São Paulo. PARTICIPANTS: Fifty-six children with ALL (mean age 4 years). Forty (71.43 percent) had B-cell and 12 (21.43 percent) had T-cell ALL; 4 (7.1 percent) were biphenotypic. SAMPLE: DNA samples were extracted from bone marrow upon diagnosis and/or relapse. In 2 T-cell cases, DNA from cerebrospinal fluid (CSF) was analyzed. MAIN MEASUREMENTS: Deletions or nucleotide substitutions in exons 1, 2 and 3 of the p16 gene were determined by PCR and nucleotide sequencing. Event-free survival was determined by the Kaplan-Meyer and log-rank test for patients carrying normal and altered p16. RESULTS: Deletions in exon 3 were observed in five cases. Abnormal migration in PCR was observed in seven cases for exon 1, six for exon 2, and five for exon 3. Mutations in exon 1 were confirmed by direct DNA sequencing in four cases and in exon 2 in two cases. The Kaplan-Meyer survival curves and the log-rank test showed no significant differences in 5-year EFS between children with normal or altered p16, or between patients with B-ALL carrying normal or altered p16 gene. Patients with T-ALL could not be evaluated via Kaplan-Meier due to the small number of cases. CONCLUSIONS: Our results, particularly regarding deletion frequency, agree with others suggesting that deletions in the p16 are initial events in leukemia genesis. The small number of samples did not allow stablishment of correlation between childhood ALL and the p16 point mutations found in our study. Kaplan-Meier analysis revealed no significant correlation between EFS and alterations in ALL. The p16 alterations frequency observed for B and T-ALL agreed with reports from other centers

Prognostic significance of bi/oligoclonality in childhood acute lymphoblastic leukemia as determined by polymerase chain reaction

CONTEXT: The CDR-3 region of heavy-chain immunoglobulin has been used as a clonal marker in the study of minimal residual disease in children with acute lymphoblastic leukemia. Southern blot and polymerase chain reaction studies have demonstrated the occurrence of bi/oligoclonality in a variable number of cases of B-lineage acute lymphoblastic leukemia, a fact that may strongly interfere with the detection of minimal residual disease. Oligoclonality has also been associated with a poorer prognosis and a higher chance of relapse. OBJECTIVES: To correlate bi/oligoclonality, detected by polymerase chain reaction in Brazilian children with B-lineage acute lymphoblastic leukemia with a chance of relapse, with immunophenotype, risk group, and disease-free survival. DESIGN: Prospective study of patientsÆ outcome. SETTING: Pediatric Oncology Unit of the University Hospital, Faculty of Medicine of Ribeiräo Preto, University of Säo Paulo. PARTICIPANTS: 47 children with acute lymphoblastic leukemia DIAGNOSTIC TEST: Polymerase chain reaction using consensus primers for the CDR-3 region of heavy chain immunoglobulin (FR3A, LJH and VLJH) for the detection of clonality. RESULTS: Bi/oligoclonality was detected in 15 patients (31.9 percent). There was no significant difference between the groups with monoclonality and biclonality in terms of the occurrence of a relapse (28.1 percent versus 26.1 percent), presence of CALLA+ (81.2 percent versus 80 percent) or risk group (62.5 percent versus 60 percent). Disease-free survival was similar in both groups, with no significant difference (p: 0.7695). CONCLUSIONS: We conclude that bi/oligoclonality was not associated with the factors investigated in the present study and that its detection in 31.9 percent of the patients may be important for the study and monitoring of minimal residual disease

Analysis of the p53 gene by PCR-SSCP in ten cases of WilmsÆ tumor

CONTEXT: Mutations of the p53 tumor suppressor gene are the most frequent alterations observed in human neoplasias affecting adults. In pediatric oncology, however, they have seldom been identified. WilmsÆ tumor is a renal neoplasia commonly occurring in children and is associated with mutations of the WT1 gene. The correlation between WilmsÆ tumor and alterations of the p53 gene has not been well established, with a low frequency of mutations having been reported in this type of tumor. Mutation may be associated with advanced stage disease and unfavorable histology. OBJECTIVE: To screen for mutations of the p53 gene by the PCR-SSCP method and DNA sequencing in cases of WilmsÆ tumor sug-gestive of mutation. DESIGN: Case Report. CASE REPORT: Evaluations of exons 5-9 of the p53 gene in DNA samples extracted by PCR-SSCP from 10 WilmsÆ tumors in children at different stages, and DNA sequencing. Changes in SSCP analy-sis were observed in exon 8 in two samples. The probable muta-tions were not confirmed by DNA sequencing. The absence of point mutations in p53 gene observed in the 10 samples of WilmsÆ tumor studied agrees with literature data, with DNA sequencing being of fundamental importance for the confirmation of possible mutations

Nutritional assessment and serum zinc and cooper concentration in leukemic children

Context: Malnutrition in childhood cancer is commonly a serious problem. Changes in blood zinc and copper have also been found in malignant diseases. Objective: To describe the protein-energy nutritional status and serum zinc and copper of children with newly diagnosed leukemia. Design: Cross-sectional study. Setting: University referral center. Participants: 23 children with newly diagnosed acute lymphocytic leukemia (ALL) or acute non-lymphocytic leukemia (ANLL) between the ages of 1 and 10 years. The control subjects were 31 healthy school children of similar age from local schools. Main measures: Anthropometric measurements of height/age and weight/height, food intake and serum levels of zinc and copper. Results: Almost the entire group of children were eutrophic. Zinc and copper intake were below the recommended values. Serum zinc levels were significantly lower and serum copper levels were significantly higher in the leukemic group when compared to normal children. Conclusion: At the time of diagnosis the children suffering from leukemia were not overtly malnourished but blood analysis showed alterations in concentrations of the trace elements zinc and copper.

Estudo citogenético de leucemia näo-linfóide aguda da infância: análise de doze casos / Cytogenetic study of acute nonlymphoid childhood leukemia. Analysis of 12 cases

Os autores analisam citigeneticamente doze caos de leucemia näo-linfóide aguda da infância (LNLA), objetivando estabelecer correlaçöes entre alteraçöes cromossômicas, evoluçäo e progressäo da doença. 91,66 por cento dos casos exibiam anomalias. Dois pacientes com classificaçäo FAB M1 e M2 apresentaram translocaçäo t(8;21), associada à monossomia do X e à trissomia desse cromossomo, mais alteraçäo do 7, respectivamente. Ambos faleceram, o primeiro após transplante de medula óssea com recidiva da doença e o segundo com septicemia, confirmando o caráter agerssivo dessa translocaçäo quando associada a outras alteraçöes cromossômicas. Em um dos casos a presença de alteraçöes cromossômicas complexas foi fundamental p[ara a confirmaçäo diagnóstica de eritroleucemia. Cinco pacientes exibiram alteraçöes cromossômicas primárias e seis do tipo secundário. No grupo com alteraçöes primárias se encontram os três pacientes vivos livres da doença. No grupo com alteraçöes secundárias, todos foram a óbito, dois por recidiva, dois por resistência à doença e dois por septicemia, após entrar em remissäo...

Analise citogenética de três casos de tumor de wilms da infância / Cytogenetics analysis of 3 cases of children with Wilms tumor

Relatamos os resultados da análise citogenética de três casos de tumor de wilms em crianças. O estudo cromossômico foi realizado a partir do material obtido de cultura de curta duraçäo de células tumorais. observamos alteraçöes numéricas e estruturais, incluindo aberraç 8es estruturais do cromossomo 1 e trissomiais dos cromossomos 8 e 12

O câncer infantil: caracterizaçäo da populaçäo atendida em um hospital-escola como subsídio para a assistência de enfermagem / Cancer in children: characterization of an university-hospital population as an AID to the nursing care

O presente estudo tem por objetivo descrever algumas características biológicas e clínicas de uma determinada populaçäo infantil afetada por neoplasias, a fim de subsidiar a assistência de enfermagem. Através da coleta de dados empíricos, realizada em um hospital-escola do município de Ribeiräo Preto-SP, evidenciamos que o câncer acomete mais frequentemente crianças menores de 10 anos de idade (84,5 por cento); a maioria (71,3 por cento) so sexo masculino; o diagnóstico mais frequente (56,3 por cento) foi leucemia; a terapêutica mais utilizada foi a quimioterapia , em associaçäo ou näo e os diagnósticos secundários foram os infecciosos, destacando-se a pneumonia, infecçäo de vias aéreas superiores, otite média aguda, amidalite e septicemia

Avaliacao do estado nutricional de criancas portadoras de neoplasias malignas / Evaluation of the nutritional states of carrier state children of malignant neoplasms

Foram estudadas 28 criancas portadoras de neoplasias malignas, internadas no Hospital das Clinicas da Faculdade de Medicina de Ribeiro Preto - USP. Foi feita avaliacao nutricional atraves de dados antropometricos e bioquimicos. Verificou-se que 36% das criancas eram portadoras de algum grau de desnutricao proteico-calorica, 40% tinham niveis sericos baixos de proteinas totais e 60% tinham niveis sericos baixos de albumina. As vitaminas dosadas mostraram que, 47% das criancas tinham valores baixos ou deficientes de vitamina A, 8% tinham valores deficientes de caroteno e 60% tinham niveis deficientes de vitamina C, maiores que a descrita na populacao em geral .