Bacterial cellulose produced from Gluconacetobacter xilinus was used to produce cellulose nanocrystals by sulfuric acid hydrolysis. Hydrolysis was performed with 64% sulfuric acid at 50 ºC with the hydrolysis time ranging between 5 and 90 min. The production of nanocrystals was observed to have size distributions that were dependent on hydrolysis times up to 10 min, after which time the suspensions showed distributions closer in size. Results from thermal analysis and X-ray diffraction showed that the amorphous cellulose was removed, leaving only the crystalline portion. Self-supported films were formed from the suspension of nanocrystals and had iridescence characteristics. The films were characterized by microscopy measures and specular reflectance.

Fanconi anemia is a rare hereditary disease showing genetic heterogeneity due to a variety of mutations in genes involved in DNA repair pathways, which may lead to different clinical manifestations. Phenotypic variability makes diagnosis difficult based only on clinical manifestations, therefore laboratory tests are necessary. New advances in molecular pathogenesis of this disease led researchers to develop a diagnostic test based on Western blot for FANCD2. The objective of the present study was to determine the efficacy of this method for the diagnosis of 84 Brazilian patients with Fanconi anemia, all of whom tested positive for the diepoxybutane test, and 98 healthy controls. The FANCD2 monoubiquitinated isoform (FANCDS+/FANCD2L-) was not detected in 77 patients (91.7%). In 2 patients (2.4%), there was an absence of both the monoubiquitinated and the non-ubiquitinated proteins (FANCD2S-/FANCD2L-) and 5 patients (5.9%) had both isoforms (FANCD2S+/FANCD2L+). This last phenotype suggests downstream subtypes or mosaicism. All controls were diepoxybutane negative and were also negative on the FANCD2 Western blot. The Western blot for FANCD2 presented a sensitivity of 94% (79/84) and specificity of 100% (98/98). This method was confirmed as an efficient approach to screen Brazilian patients with deleterious mutations on FANCD2 (FANCD2S-/FANCD2L-) or other upstream genes of the FA/BRCA pathway (FANCDS+/FANCD2L-), to confirm the chromosome breakage test and to classify patients according to the level of FA/BRCA pathway defects. However, patients showing both FANCD2 isoforms (FANCD2S+/FANCD2L+) require additional studies to confirm mutations on downstream Fanconi anemia genes or the presence of mosaicism.

Transplante de medula óssea de doador irmão HLA-idêntico pode curar 70%-90% dos portadores de anemia aplásica severa (AAs). Pacientes mais idosos, muito transfundidos, longamente tratados com imunossupressão (IS) e com infecções ao tempo do transplante têm pior evolução. Nós transplantamos 18 pacientes com AAs e pelo menos um dos fatores associados a pior prognóstico (idade >35 anos, >50 transfusões antes do transplante, falta de resposta à imunossupressão prévia e infecção bacteriana ou fúngica ao transplante) de 2001 a 2005, com ciclofosfamida (Cy - 5 pacientes) ou bussulfan mais Cy (13 pacientes). Dezesseis pacientes apresentaram pega do enxerto, dois morreram sem pega, três tiveram rejeição aos dias +67, +524 e +638 (dois morreram e um foi resgatado com IS). Mucosite grau III/IV ocorreu em 39% e não observamos DECH aguda ou crônica. A probabilidade de sobrevida pelo método de Kaplan-Meier foi de 75% aos 2,14 anos, e uma tendência a melhor sobrevida foi encontrada entre os portadores de apenas um fator de risco ao transplante (P: .06). Estes resultados são comparáveis a recentes relatos de literatura envolvendo condicionamentos baseados em fludarabina para tratar pacientes com alto risco. Devido à pequena amostra analisada, estudos clínicos prospectivos com maior número de pacientes são necessários, visando comprovar o real benefício dos condicionamentos baseados em fludarabina, definir o melhor agente a ser a ela associado e assim obter o melhor condicionamento para portadores de AAs com fatores de mau prognóstico para o transplante.

Hematopoietic progenitor cell transplantation from HLA-identical sibling donors cures 70-90% of Severe Aplastic Anemia (sAA) patients. Older age, heavy exposure to transfusions, immunosuppression treatment (IST) with a long interval from diagnosis to transplant and infection at procedure are associated with poor outcomes. We transplanted 18 patients with sAA and at least one risk factor (RF) for poor prognosis (age >35 years, >50 transfusions prior to transplant, unresponsiveness to previous IST and bacterial or fungal infection at transplant) from 2001 to 2005, using cyclophosphamide (CY - 5 patients) or busulfan plus CY (13 patients). Sixteen patients engrafted, two died with no engraftment, three patients had evidence of graft failure at days +67, +524 and +638 (two died and one was rescued with IST). Grade III/IV mucositis occurred in 39% but neither aGVHD nor cGVHD were observed. The Kaplan-Meier probability of survival was 75% at 2.14 years, with a trend favoring survival by number of RF (1 versus =2 RF) (P = 0.06). These results are comparable to recent data reported with fludarabine-based conditioning in patients with poor prognosis sAA. Due to the small sample size, prospective clinical trials with larger cohorts of patients are needed to confirm the real benefits of fludarabine-based conditioning, and also to define the best agent(s) to be associated with Fludarabine as preparative regimen for sAA patients with poor prognosis.

Apresentamos as complicações neurológicas avaliadas em uma série de 1000 pacientes submetidos ao transplante de células tronco hematopoiéticas (TCTH). As complicações neurológicas do sistema nervoso central foram as mais encontradas, particularmente as hemorragias encefálicas, seguidas por crises convulsivas e por infecções. Uma complicação peculiar foi a encefalopatia de Wernicke. Menos freqüentemente foram encontrados casos de encefalopatia metabólica, síndrome maligna neuroléptica, leucoencefalopatia posterior reversível, infarto cerebral e os distúrbios do movimento. Entre as complicações neurológicas do sistema nervoso periférico a mais encontrada foi a radiculopatia pelo herpes zoster, enquanto que raramente se observaram casos de polineuropatias periféricas, miopatia inflamatória e de miotonia.

We present the neurological complications evaluated in a series of 1000 patients who underwent hematopoietic stem cell transplantation (HSCT). Central nervous system (CNS) neurological complications, particularly brain hemorrhages, were the most common, followed by seizures and CNS infections. An unusual neurological complication was Wernicke's encephalopathy. Less frequent neurological complications were metabolic encephalopathy, neuroleptic malignant syndrome, reversible posterior leukoencephalopathy syndrome, brain infarct and movement disorders. The most common neurological complication of the peripheral nervous system was herpes zoster radiculopathy, while peripheral neuropathies, inflammatory myopathy and myotonia were very rarely found.

INTRODUÇÃO: Foram comparadas as anormalidades encontradas no sistema nervoso central de adultos e crianças submetidos à autópsia após transplante de medula óssea (TMO) no Departamento de Patologia Médica da Universidade Federal do Paraná (UFPR). MÉTODOS: Relatórios das autópsias de 180 pacientes foram revistos. Foram considerados crianças os pacientes abaixo de 15 anos; adultos, aqueles com 15 ou mais. A idade, o sexo, o diagnóstico clínico na época do TMO, o tempo de sobrevivência, as anormalidades neuropatológicas e a causa da morte foram analisados. RESULTADOS: Nas crianças (26,6% do total) e nos adultos (73,4% do total) o principal diagnóstico clínico prévio ao TMO foi, respectivamente, anemia aplásica severa (31,2%) e leucemia mielóide crônica (36,3%). O tempo médio de sobrevivência pós-TMO para crianças foi de 102,6 dias; para os adultos, 185,9. Lesões cerebrais foram consideradas causa de morte em 20,8% dos casos pediátricos e 11,3% do grupo adulto. As anormalidades neuropatológicas foram morfologicamente similares nas crianças e nos adultos e apresentaram, respectivamente, as seguintes prevalências: doenças cerebrovasculares em 58,3% e 56% (p = 0,8655), neurotoxoplasmose em 6,2% e 3% (p = 0,3856) e infecções em 27 e em 25,7% (p = 0,8489). CONCLUSÕES: As crianças tiveram sobrevida menor, maior número de casos de neurotoxoplasmose e duas vezes mais lesões graves do sistema nervoso central que o grupo adulto.

BACKGROUND: We compare neuropathological abnormalities in children and adults after bone marrow transplantation (BMT) by means of autopsy in the Department of Medical Pathology, Universidade Federal do Paraná (UFPR), Brazil. METHODS: Autopsy reports of 180 patients were reviewed. They were divided in two groups: patients under 15 years old and those 15 or older. Age, gender, clinical diagnosis at time of BMT, survival time, neuropathological abnormalities and cause of death were analyzed. RESULTS: In children (26.6% of total) and in the adult group (73.4% of total), the main clinical diagnoses prior to BMT were, respectively, severe aplastic anemia (31.2%) and chronic myeloid leukemia (36.3%). The mean survival time for children was 102.6 days and for adults, 185.9 days after BMT. Brain lesions were considered cause of death in 20.8% of pediatric cases and 11.3% of the adult group. Neuropathological abnormalities were morphologically similar in children and adults, with the following respectively prevalence: cerebrovascular diseases in 58.3 and 56% (p = 0.8655), neurotoxoplasmosis in 6.2% and 3% (p = 0.3856) and infections in 27 and 25.7% (p = 0.8489). CONCLUSIONS: The pediatric patients had shorter survival than adults, with increasing prevalence of neurotoxoplasmosis, and brain lesions were considered cause of death in twice as many as compared to adult patients.

We transplanted 47 patients with Fanconi anemia using an alternative source of hematopoietic cells. The patients were assigned to the following groups: group 1, unrelated bone marrow (N = 15); group 2, unrelated cord blood (N = 17), and group 3, related non-sibling bone marrow (N = 15). Twenty-four patients (51%) had complete engraftment, which was not influenced by gender (P = 0.87), age (P = 0.45), dose of cyclophosphamide (P = 0.80), nucleated cell dose infused (P = 0.60), or use of anti-T serotherapy (P = 0.20). Favorable factors for superior engraftment were full HLA compatibility (independent of the source of cells; P = 0.007) and use of a fludarabine-based conditioning regimen (P = 0.046). Unfavorable factors were > or = 25 transfusions pre-transplant (P = 0.011) and degree of HLA disparity (P = 0.007). Intensity of mucositis (P = 0.50) and use of androgen prior to transplant had no influence on survival (P = 0.80). Acute graft-versus-host disease (GVHD) grade II-IV and chronic GVHD were diagnosed in 47 and 23% of available patients, respectively, and infections prevailed as the main cause of death, associated or not with GVHD. Eighteen patients are alive, the Kaplan-Meyer overall survival is 38% at ~8 years, and the best results were obtained with related non-sibling bone marrow patients. Three recommendations emerged from the present study: fludarabine as part of conditioning, transplant in patients with <25 transfusions and avoidance of HLA disparity. In addition, an extended family search (even when consanguinity is not present) seeking for a related non-sibling donor is highly recommended.

O transplante de medula óssea é uma opção terapêutica para os pacientes com doenças de acúmulo. Entre 1979 e 2002, oito pacientes, quatro femininos e quatro masculinos (entre um e 13 anos de idade) foram submetidos a este procedimento em nosso centro. Seis pacientes apresentavam mucopolissacaridose (MPS I em 3; MPS III em um e MPS VI em 2), um paciente apresentava adrenoleucodistrofia e um apresentava doença de Gaucher. Cinco pacientes receberam o transplante de doador aparentado e três de doador não aparentado. Três pacientes desenvolveram doença do enxerto versus hospedeiro (dois com MPS I e um com MPS VI) e faleceram entre 37 e 151 dias após o transplante. Cinco pacientes sobreviveram entre 4 e 16 anos após o transplante. Três tiveram melhora clínica (um MPS I, um MPS VI e o paciente com doença de Gaucher), um paciente não apresentou progressão da doença (adrenoleucodistrofia) e um paciente não teve alteração da história natural da doença (MPS III).

Bone marrow transplantation (BMT) is a therapeutic option for patients with genetic storage diseases. Between 1979 and 2002, eight patients, four females and four males (1 to 13 years old) were submitted to this procedure in our center. Six patients had mucopolysaccharidosis (MPS I in 3; MPS III in one and MPS VI in 2), one had adrenoleukodystrophy (ALD) and one had Gaucher disease. Five patients had related and three unrelated BMT donor. Three patients developed graft versus host disease (two MPS I and one MPS VI) and died between 37 and 151 days after transplantation. Five patients survived 4 to 16 years after transplantation. Three patients improved (one MPS I; one MPS VI and the Gaucher disease patient), one patient had no disease progression (ALD) and in one patient this procedure did not change the natural course of the disease (MPS III).

Dados do Registro Internacional de Transplante de Medula Óssea, International Bone Marrow Transplant Registry (IBMTR) contribuem para o progresso do transplante de medula óssea (TMO) em todo o mundo. Neste artigo relatamos a experiência brasileira em leucemia mielóide aguda e comparamos os resultados do TMO com os dados internacionais. Foi realizado um estudo retrospectivo com dados de tratamento de LMA com o TMO de 16 instituições brasileiras. A análise estatística dos transplantes da modalidade autogênica (TMO auto) e alogênica (TMO alo) foi realizada com o método de Kaplan-Meier e log-rank. Todos os valores de p foram bicaudados. Foram avaliados os dados de 731 pacientes (205 TMO auto e 526 TMO alo). A mediana de sobrevida global dos pacientes submetidos ao TMO auto foi superior à dos submetidos ao TMO alo (1.035 vs 466 dias, p=0,0012). A origem das células-tronco (OCT) no TMO alo em 73% dos pacientes foi de medula óssea (CTMO), em 23% de sangue periférico (CTSP) e em 4% de cordão umbilical. No TMO auto, a OCT foi 63% de CTSP, 22% CTMO e 15% de ambas as fontes. A OCT não teve impacto na sobrevida global (SG). Não houve diferença na SG também entre os pacientes segundo a classificação FAB no TMO alo, mas os pacientes com LMA M3 com o TMO auto tiveram SG longa. Como esperado, a principal causa de óbito entre os pacientes do TMO auto foi relacionada à recidiva de doença (60%), enquanto no TMO alo as principais causas foram a doença enxerto versus hospedeiro e infecções (38%). Em ambos os grupos foi observada SG mais longa nos pacientes tratados em primeira remissão completa (1RC) quando comparados aos de segunda remissão (2RC) e outras fases (p<0,0001), tendo sido observado SG mais longa nos pacientes com LMA de novo quando comparados aos de LMA secundária. No TMO alo a SG foi mais longa com doadores aparentados (538 versus 93 dias p=0,001). A SG foi mais curta nos pacientes que utilizaram irradiação corpórea total no regime de condicionamento (p=0,0001). No TMO alo foram observados mais pacientes com doença avançada (60%) enquanto no grupo de TMO auto 24% eram da morfologia M3, o que pode explicar a diferença de SG entre os grupos. O resultado do estudo está em concordância com os dados do IBMTR. Considerando a natureza do estudo, retrospectivo e multicêntrico, os resultados devem ser analisados com cautela.

Data from the International Bone Marrow Transplant Registry (IBMTR) contribute for the improvement of Bone Marrow Transplant (BMT) worldwide. We studied the Brazilian experience in BMT for AML to compare this with international data. We performed a retrospective study by sending questionnaires to 16 BMT centers regarding clinical and treatment variables. Statistical analyses concerning autologous BMT (autoBMT) and allogeneic BMT (alloBMT) were performed using the Kaplan-Meier method and the log-rank test. All p-values were two-tailed. We collected data from 731 patients (205 autoBMT and 526 alloBMT). Median overall survival (OS) for autoBMT patients was longer than alloBMT patients (1035 vs. 466 days, p=0.0012). AlloBMT stem cell source (SCS): 73% bone marrow stem cell (BMSC), 23% peripheral blood stem cells (PBSC) and 4% umbilical cord blood. Among the autoBMT patients, the SCS was 63% PBSC, 22% BMSC and 15% both. The SCS did not impact on OS. There was no difference in OS between different FAB classifications in the alloBMT group, but in the autoBMT the M3 patients had longer survival. As expected, the main cause of mortality among autoBMT patients was related to disease relapse (60%), while in the alloBMT, to infection (38%). In both groups we found longer OS in first complete remission (1CR) compared to second (2CR) and other (p<0.0001), and longer OS in de novo AML than in secondary. In the alloBMT group we found more patients with advanced disease (60%), while in the autoBMT group, we found more M3 patients (24%), which could explain the difference in OS. Most of our results are in accordance with IBMTR data. One should consider the fact that this is a retrospective study and our findings should be analysed with caution.

Um novo sistema em fluxo é apresentado com a finalidade de pré-concentrar e determinar o mercúrio reativo em efluentes. O sistema é baseado na redução do mercúrio reativo presente em 500 mL de amostra com uma solução de Sn(II). O mercúrio reduzido é arrastado por uma corrente de argônio que passa por um tubo de vidro (comprimento de 60 cm, e diâmetro interno de 3 mm) inclinado a 15º. A superfície interna desse tubo é recoberta previamente com um filme líquido de uma solução oxidante contendo H2O2 (12%, m/v) e HNO3 (3,0 mol L-1) produzida após a introdução e passagem de um monossegmento líquido contendo esses reagentes. O Hg0 arrastado sofre um processo oxidativo e o Hg(II) formado é retido no filme. Após 10 minutos de arraste o fluxo de argônio é interrompido e um monossegmento (350 µL) contendo PAR [4-(2-piridilazo) resorcinol], 1,0 x 10-3 mol L-1 em tampão amônia / cloreto amônio (4,0 mol L-1; pH 9,0) é introduzido e passa através do tubo de vidro. Um complexo fortemente colorido é formado entre o PAR e o Hg(II) o qual é levado ao sistema de detecção constituído por um diodo emissor de luz (LED, lambdamáx = 525 nm) e um detector fotodiodo. O tempo de processamento de uma amostra é de 12 min. O sistema é lavado e uma nova camada de líquido é formada, preparando o sistema para uma nova determinação. Esse método concentra a amostra 148 vezes e permite a obtenção de um limite de detecção de 0,16 µg L-1.

A new flow system to pre-concentrate and determine reactive mercury in effluents by photometry is presented. The system is based on the reduction of the reactive mercury present in a 500 mL sample with a Sn(II) solution. The reduced mercury is swept out by an argon stream and carried to a straight glass tube (60 cm long, 3 mm i.d.) inclined in an angle of 15º. The inner surface of this tube has been previously covered by a renewable liquid layer of an oxidant solution containing H2O2 (12%, m/v) and HNO3 (3.0 mol L-1) produced after introduction and passage of a liquid monosegment containing those reagents. The swept Hg0 undergoes an oxidative process and the Hg(II) formed is retained in the layer. After a 10 min sweep time interval the argon flow is stopped and a reagent monosegment (350 µL) containing PAR [4-(2-pyridylazo)resorcinol], 1.0 x 10-3 mol L-1, in an ammonia/ ammonium chloride buffer (4.0 mol L-1; pH 9.0) is introduced and passes through the glass tube. A strongly coloured complex between PAR and Hg(II) is formed and carried to the detection system composed of a light emitting diode (LED, lambdamax = 525 nm) and a photodiode detector. Sample processing time is about 12 min. The system is washed and a fresh liquid layer is formed, preparing the system for a new determination. This method concentrates the sample by a factor of 148 and achieves a detection limit of 0.16 µg L-1.

INTRODUÇÃO: A Leucemia Mielóide Crônica (LMC) é uma doença clonal caracterizada pela presença da translocação entre os cromossomos 9 e 22 (cromossomo Philadelphia). O gene resultante BCR-ABL possui atividade de tirosino-quinase, que estimula o crescimento celular. O mesilato de imatinibe é um inibidor potente e específico de todas as quinases relacionadas ao ABL. PACIENTES E MÉTODOS: Noventa e oito pacientes com LMC foram tratados com mesilato de imatinibe de outubro de 2000 a janeiro de 2003: 28 em fase crônica (FC) resistente ou intolerante ao interferon alfa; 55 em fase acelerada (FA) e 55 em crise blástica (CB). Dose: 400 mg para CP e 600 mg para FA ou CB. OBJETIVOS: Avaliação da eficácia, segurança e sobrevida após tratamento da LMC com mesilato de imatinibe. RESULTADOS: Seguimento mediano: 545 dias (variação: 7-862). Resposta hematológica completa ocorreu em 86% dos pacientes em FC, 47% na FA e 13% na CB. Sessenta e um por cento, 24% e 0% dos pacientes em FC, FA e CB, atingiram resposta citogenética completa, respectivamente. Não foram detectados transcritos BCR-ABL por "nested RT-PCR" em 9% dos pacientes. Toxicidade hematológica grau 3-4: 21% na FC, 74% na FA e em 87% na CB. Toxicidade não hematológica grau 3-4: 11% na FC, 51% na FA e 53% na CB. A sobrevida global em dois anos foi de 64% para todos os pacientes, 96% na FC e 36% na FA. Todos os pacientes em CB faleceram numa mediana de 60 dias. CONCLUSÕES: O mesilato de imatinibe induziu respostas citogenéticas completas em pacientes brasileiros com LMC em fase crônica e acelerada. Os eventos adversos nos nossos pacientes foram semelhantes aos relatados em literatura, exceto pela menor incidência de sintomas gastro-intestinais e câimbras.

Chronic Myeloid Leukemia (CML) is a clonal disease characterized by balanced translocation between chromosomes 9 and 22 (Philadelphia chromosome). The resulting BCR-ABL gene has tyrosine kinase activity which stimulates cellular growth. Imatinib mesylate is a potent and specific inhibitor of all ABL related kinases. Ninety-eight CML patients were treated with imatinib mesylate from October 2000 to January 2003. Disease stage was: late chronic phase resistant or intolerant to alpha-interferon (CP): 28; accelerated phase (AP): 55; blastic phase (BP): 15 patients. Dose: 400 mg for CP and 600 mg for AP or CB. The objectives were to evaluation the efficacy, safety and survival with imatinib mesylate therapy in all phases of CML. The median follow up time was 545 days (range: 7-862), complete hematologic response was 86% in CP, 47% in AP and 13% in BP. Complete cytogenetic response was 61%, 24% and 0% respectively. BCR-ABL was not detected by nested RT-PCR in 9% of patients. Grade 3-4 hematologic toxicity was seen in 21% of CP, 74% of AP and 87% of BP patients. Grade 3-4 non-hematologic toxicity was observed in 11% of CP, 51% of AP and 53% of BP patients. Two-year overall survival was 64% for all patients, 96% for CP and 36% for AP patients. All BP patients died within a median of 60 days. Imatinib mesylate induced cytogenetic responses in Brazilian patients with previously treated CML in chronic and accelerated phase. Adverse events are similar to those reported in the literature, except for lower rates of gastrointestinal symptoms and muscle cramps in our study group.

Fanconi anemia (FA) is an autosomal recessive genetic disease characterized by progressive bone marrow failure, susceptibility to cancer and multiple congenital anomalies. There is important clinical variability among patients and the knowledge of factors which might predict outcome would greatly help the decision making regarding the choices of treatment and the appropriate time to start it. Future studies of the possible correlation between specific mutations with specific clinical presentations will provide the answer to one of these factors. At our Center we standardized a rapid and precise screening test using a mismatch PCR assay for a specific mutation (3788-3790del in exon 38 of gene FANCA) in Brazilian FA patients. We present the results obtained after screening 80 non-consanguineous FA patients referred from all regions of Brazil with a clinical diagnosis of FA supported by cellular hypersensitivity to diepoxybutane. We were able to detect the 3788-3790del allele in 24 of the 80 (30%) FA patients studied. Thirteen of the 80 (16.25%) were homozygotes and 11 of the 80 (13.75%) were compound heterozygotes, thus confirming the high frequency of the FANCA 3788-3790del mutation in Brazilian FA patients. The identification of patients with specific mutations in the FA genes may lead to a better clinical description of this condition, also providing data for genotype-phenotype correlations, to a better understanding of the interaction of this specific mutation with other mutations in compound heterozygote patients, and ultimately to the right choices of treatment for each patient with improvement of the prognosis on future studies.

O presente estudo, objetiva investigar a representação simbólica do câncer em profissionais da área de saúde, pacientes, familiares e população em geral. Investigou-se, as imagens simbólicas que permeiam a atitude de cada um perante a convivência com o câncer por meio de questionário. Os resultados indicaram informações ricas de subjetividade, independentemente das diferenças demográficas. A imagética interfere na percepção, na reação e na distribuição do tempo que cada um determina para a escuta da singularidade daquele que adoece com o câncer e/ou com a contaminação simbólica. Na medida em que o fantasma da morte acompanha o paciente em seus movimentos, espera-se que este estudo possa contribuir para que se busquem formas de aprimoramento do tratamento do paciente com câncer. No entanto, para ajudar o outro, é preciso, primeiramente, redimensionar a própria formação imagética; afinal, nós, profissionais da área de saúde, também somos semeadores das imagens que se reproduzem ao longo dos séculos, apesar de toda a evolução científica.

The purpose of this study is to investigate the symbolic representation of cancer, in order to help health professionals, patients, relatives involved, and others who might have interest on this subject, through questionnaires. The research collected data to show the different reactions of people directly involved with cancer. The results show that, despite of the demographic differences, the answers were extremely taken as personal. The self image interferes on the perception, reactions, and time line organization of the patients and those affected by the symbolic contamination. As the death gets closer to the patients, this research might help to improve the existents methods of treatment. Not so ever, in order to help others, it is necessary to fortify own self image. After all, we, health professionals are the ones to reproduce those images along the centuries, despite of the scientific improvements.

Características e resultados de 52 pacientes com síndrome mielodisplásica (MDS) submetidos a transplante alogênico de células progenitoras hematopoiéticas (TCPH) foram analisados. A idade mediana foi de 30 anos (variação de 2-61 anos) e o tempo mediano entre o diagnóstico e transplante foi de dez meses (variação de 1-161 meses). Trinta e seis pacientes tinham MDS avançada ou leucemia mielóide aguda secundária a MDS ao transplante. O condicionamento com busulfano e ciclofosfamida foi recebido por 73% dos pacientes, e a dose celular mediana do enxerto foi de 2.56 x 10(8) células nucleadas/kg. A sobrevida global e a sobrevida livre de doença aos quatro anos foi de 36% e 33%, respectivamente. Dezenove pacientes estavam vivos, com um seguimento mediano de 3,8 anos. Doze pacientes recaíram e apenas um deles está vivo, após infusão de linfócitos do doador. Intervalo menor que 6 meses entre o diagnóstico e o transplante reduziu a ocorrência de recaída (P = 0.01). Mortalidade e recaída foram significativamente mais baixas entre os pacientes com doença menos avançada (P = 0.03). Mortalidade mais baixa também foi observada quando o transplante ocorreu após 1994, provavelmente porque mais pacientes com doença menos avançada foram transplantados. Doença do enxerto-contra-hospedeiro (DECH) aguda graus > II ocorreu em 19 pacientes, e sua incidência foi influenciada pela compatibilidade entre doador e paciente (aparentado idêntico versus não-aparentado/aparentado parcialmente compatível) (P = 0.03). Onze pacientes desenvolveram DECH crônica que teve como fator de risco DECH aguda (P = 0.03). Trinta e três pacientes morreram, sendo 22 (67%) de complicações do transplante. Estes dados sugerem que pacientes com MDS devem ser submetidos ao TCPH precocemente, principalmente se são jovens e possuem doador compatível.

Characteristics and outcomes of 52 patients with myelodysplastic syndrome (MDS) who underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT) were analyzed. Median age was 30 years (range 2-61 years) and median time from diagnosis to allo-HSCT was 10 months (range 1-161 months). Thirty-six patients had advanced MDS or acute myeloid leukemia following MDS at transplant. Conditioning with busulfan and cyclophosphamide was administered to 73% of patients, and the median value of graft dose was 2.595 x 10(8) of total nucleated cells/kg. Overall survival and disease free survival at 4 years were 36% and 33%, respectively. Nineteen patients were alive, with a median follow-up of 3.8 years. Twelve patients relapsed and only one is alive, after donor lymphocyte infusion. Interval < 6 months between diagnosis and allo-HSCT decreased relapse (P = 0.01). Mortality and relapse were significantly lower among patients with less advanced disease (P = 0.03). Decreased mortality was also observed when transplant occurred after 1994, probably because more patients with less advanced disease received the procedure. Acute GVHD grades > II occurred in 19 patients. Donor type (identical related versus non-related/partially matched related) influenced the incidence of acute GVHD (P = 0.03). Eleven patients developed chronic GVHD and previous acute GVHD was a risk factor (P = 0.03). Thirty-three patients died, 22 (67%) secondary to transplant-related complications. Patients with MDS should undergo allo-HSCT earlier, mainly if they have a compatible donor and are young.

Anemia Fanconi (AF) é uma síndrome autossômica recessiva, caracterizada por pancitopenia progressiva com hipoplasia de MO, em associação com várias anormalidades constitucionais, tendo como único recurso terapêutico com possibilidade potencial de cura o transplante de medula óssea, e sendo tais pacientes propensos ao desenvolvimento de malignidades hematológicas e carcinoma de células escamosas (CEC) em diversos locais: reto, vagina, cérvice, esôfago, cavidade bucal, faringe ou pele, mas especialmente em cabeça e pescoço. Relatamos aqui três casos de pacientes portadores de AF, que após TMO desenvolveram CEC em língua. Além disso, mencionamos fatores de risco relatados para tal evento, como diagnóstico de AF, condicionamento pré-transplante (quimioterápicos e irradiação), terapia com drogas imunossupressoras para tratamento de doença enxerto contra hospedeiro (DECH) aguda ou crônica, sexo e idade avançada. Além do que, discorremos sobre a existência de três mecanismos postulados que predispõem indivíduos com AF ao desenvolvimento de neoplasia: (1) defeito na reparação do DNA; (2) defeito na detoxificação de radicais de oxigênio; e (3) imunodeficiência.

Fanconi's Anemia, first described in 1927, is a rare autonomic recessive disease characterized by progressive pancytopenia, congenital malformations, spontaneous or chemically induced chromosome breakage and increased incidence of leukemia and other cancers. The onset of bone marrow hypoplasia and its hematological manifestations is usually in the 3 - 7 year age range. The disease has traditionally been managed clinically through administration of blood products, treatment of infections and prolonged administration of androgens, growth factors and more recently with gene therapy. The value of bone marrow transplantation in correcting the hematological manifestations of Fanconi's anemia has been established. Alkilanting agents and radiation have been utilized as a conditioning regimen in bone marrow transplantation for Fanconi's anemia, but these patients are particularly hypersensitive to these agents and its toxicity is the main cause of mortality and morbidity. Bone marrow transplantation is at the moment the only therapeutic modality able to bring hematological cure. Fanconi's anemia patients are particularly susceptible to the development of hematological malignancies and squamous cell carcinoma in the epithelium of the rectum, vagina, cervix, esophagus, oral cavity, pharynx or skin in general but more frequently on the head and neck; probably not only because the basic cellular defect but also because of the conditioning regimen. We report on three cases of Fanconi's anemia patients developing squamous cell carcinoma of the tongue after bone marrow transplantation. Furthermore, there is mention of the risk factors linked in an event, such as the diagnosis of Fanconi's anemia, pre-transplant conditioning regimen that usually includes alkylating agents and irradiation; immunosuppressive prophylactic therapy for acute and chronic graft-versus-host-disease, gender and age. Additionally, we discussed the existence of three postulated mechanisms that make individuals with Fanconi's anemia susceptible to the development of neoplasias: (1) deficiency in the DNA repair system, (2) deficiency in oxygen radical detoxification; and (3) immunodeficiency.

Microsatellites are short tandem repeat sequences dispersed throughout the genome. Their instability at multiple genetic loci may result from mismatch repair errors and it occurs in hereditary nonpolyposis colorectal cancer. This instability is also found in many sporadic cancers. In order to evaluate the importance of this process in myeloid leukemias, we studied five loci in different chromosomes of 43 patients, 22 with chronic myelocytic leukemia (CML) in the chronic phase, 7 with CML in blast crisis, and 14 with acute myeloid leukemia (AML), by comparing leukemic DNA extracted from bone marrow and constitutional DNA obtained from buccal epithelial cells. Only one of the 43 patients (2.1%), with relapsed AML, showed an alteration in the allele length at a single locus. Cytogenetic analysis was performed in order to improve the characterization of leukemic subtypes and to determine if specific chromosome aberrations were associated with the presence of microsatellite instability. Several chromosome aberrations were observed, most of them detected at diagnosis and during follow-up of the patients, according to current literature. These findings suggest that microsatellite instability is an infrequent genetic event in myeloid leukemias, adding support to the current view that the mechanisms of genomic instability in solid tumors differ from those observed in leukemias, where specific chromosome aberrations seem to play a major role.