ABSTRACT Objective: Identify the signs and symptoms of patients with Gaucher Disease, inferring possible priority nursing diagnoses. Method: Cross-sectional study, developed in a specialized laboratory, between 2013 and 2015. The sample (n = 91) comprised the records of patients with genetic diagnosis for Gaucher Disease. The study respected research norms. Results: Prevalence of female sex (57.1%), age at diagnosis between 0 and 10 years, and origin from the Southeast Region of Brazil were prevalent. Hematologic changes, bone pain, hepatomegaly, splenomegaly, and fatigue were the most recurrent signs and symptoms. The inferred diagnoses for the studied population were: Risk for bleeding; Fatigue; Chronic pain and Acute pain; Impaired physical mobility; Imbalanced nutrition: less than body requirements; and Risk for Developmental Delay. Conclusion: The establishment of Priority Nursing Diagnoses based on signs and symptoms makes it possible to achieve expected outcomes for each individual in the care context.

RESUMEN Objetivo: Identificar las señales y los síntomas de pacientes con Enfermedad de Gaucher, infiriendo los posibles diagnósticos prioritarios de enfermería. Método: Estudio transversal, desarrollado entre 2013 y 2015 en un laboratorio especializado. La muestra (n=91) estaba constituida por los registros de pacientes con diagnóstico genético de la Enfermedad de Gaucher. El estudio respetó las normas de la investigación. Resultados: Prevaleció el sexo femenino (57,1%), con franja de edad entre 0 y 10 años y procedencia de la Región Sureste de Brasil. Las alteraciones hematológicas, el dolor óseo, la hepatomegalia, la esplenomegalia y el cansancio fueron las señales y los síntomas más recurrentes. Los diagnósticos inferidos de la población estudiada fueron: Riesgo de sangrado; Fatiga; Dolor crónico y Dolor agudo; Movilidad física perjudicada; Nutrición desequilibrada: menos que las necesidades corporales; y Riesgo de Desarrollo atrasado. Conclusión: El establecimiento de los diagnósticos prioritarios de enfermería, a partir de las señales y de los síntomas, permite obtener los resultados esperados para cada individuo en el contexto del cuidado.

RESUMO Objetivo: Identificar os sinais e sintomas de pacientes com Doença de Gaucher, inferindo os possíveis diagnósticos de enfermagem prioritários. Método: Estudo transversal, desenvolvido em laboratório especializado, entre 2013 e 2015. A amostra (n=91) foi constituída dos registros de pacientes com diagnóstico genético para Doença de Gaucher. O estudo respeitou normas de pesquisa. Resultados: Foram prevalentes o sexo feminino (57,1%), faixa etária ao diagnóstico entre 0 e 10 anos e proveniência da Região Sudeste do Brasil. Alterações hematológicas, dor óssea, hepatomegalia, esplenomegalia, cansaço foram os sinais e sintomas mais recorrentes. Os diagnósticos inferidos para a população estudada foram: Risco de sangramento; Fadiga; Dor crônica e Dor aguda; Mobilidade física prejudicada; Nutrição desequilibrada: menos do que as necessidades corporais; e Risco de Desenvolvimento atrasado. Conclusão: O estabelecimento dos Diagnósticos de Enfermagem prioritários a partir dos sinais e sintomas possibilita alcançar resultados esperados a cada indivíduo no contexto do cuidado.

RESUMO Objetivo: Identificar os sinais e sintomas de pacientes com Doença de Gaucher, inferindo os possíveis diagnósticos de enfermagem prioritários. Método: Estudo transversal, desenvolvido em laboratório especializado, entre 2013 e 2015. A amostra (n=91) foi constituída dos registros de pacientes com diagnóstico genético para Doença de Gaucher. O estudo respeitou normas de pesquisa. Resultados: Foram prevalentes o sexo feminino (57,1%), faixa etária ao diagnóstico entre 0 e 10 anos e proveniência da Região Sudeste do Brasil. Alterações hematológicas, dor óssea, hepatomegalia, esplenomegalia, cansaço foram os sinais e sintomas mais recorrentes. Os diagnósticos inferidos para a população estudada foram: Risco de sangramento; Fadiga; Dor crônica e Dor aguda; Mobilidade física prejudicada; Nutrição desequilibrada: menos do que as necessidades corporais; e Risco de Desenvolvimento atrasado. Conclusão: O estabelecimento dos Diagnósticos de Enfermagem prioritários a partir dos sinais e sintomas possibilita alcançar resultados esperados a cada indivíduo no contexto do cuidado.

ABSTRACT Objective: Identify the signs and symptoms of patients with Gaucher Disease, inferring possible priority nursing diagnoses. Method: Cross-sectional study, developed in a specialized laboratory, between 2013 and 2015. The sample (n = 91) comprised the records of patients with genetic diagnosis for Gaucher Disease. The study respected research norms. Results: Prevalence of female sex (57.1%), age at diagnosis between 0 and 10 years, and origin from the Southeast Region of Brazil were prevalent. Hematologic changes, bone pain, hepatomegaly, splenomegaly, and fatigue were the most recurrent signs and symptoms. The inferred diagnoses for the studied population were: Risk for bleeding; Fatigue; Chronic pain and Acute pain; Impaired physical mobility; Imbalanced nutrition: less than body requirements; and Risk for Developmental Delay. Conclusion: The establishment of Priority Nursing Diagnoses based on signs and symptoms makes it possible to achieve expected outcomes for each individual in the care context.

RESUMEN Objetivo: Identificar las señales y los síntomas de pacientes con Enfermedad de Gaucher, infiriendo los posibles diagnósticos prioritarios de enfermería. Método: Estudio transversal, desarrollado entre 2013 y 2015 en un laboratorio especializado. La muestra (n=91) estaba constituida por los registros de pacientes con diagnóstico genético de la Enfermedad de Gaucher. El estudio respetó las normas de la investigación. Resultados: Prevaleció el sexo femenino (57,1%), con franja de edad entre 0 y 10 años y procedencia de la Región Sureste de Brasil. Las alteraciones hematológicas, el dolor óseo, la hepatomegalia, la esplenomegalia y el cansancio fueron las señales y los síntomas más recurrentes. Los diagnósticos inferidos de la población estudiada fueron: Riesgo de sangrado; Fatiga; Dolor crónico y Dolor agudo; Movilidad física perjudicada; Nutrición desequilibrada: menos que las necesidades corporales; y Riesgo de Desarrollo atrasado. Conclusión: El establecimiento de los diagnósticos prioritarios de enfermería, a partir de las señales y de los síntomas, permite obtener los resultados esperados para cada individuo en el contexto del cuidado.

ABSTRACT Mucopolysaccharidoses (MPS) are a group of inherited metabolic disorders caused by deficiency of enzymes that degrade glycosaminoglycans (GAGs). Urinary excretion of GAGs is a common feature of MPS, and is considered their major biomarker. We aimed to adapt the GAG electrophoresis method to a commercial agarose gel which would be able to separate urinary GAGs in a simpler way with good sensitivity and reproducibility. Urine samples from patients previously diagnosed with MPS I, IV, and VI were used as electrophoretic standards. Samples from patients on enzyme replacement therapy (ERT) were also assessed. Commercial agarose gel electrophoresis was effective, showing proper definition and separation of GAG bands. Detection sensitivity exceeded 0.1 µg and band reproducibility were consistent. GAG bands quantified in urine samples from patients on ERT correlated very strongly (correlation coefficient = 0.98) with total GAG concentrations. This application of gel electrophoresis demonstrates the possibility of monitoring patients with MPS treated with ERT by analyzing separately the GAGs excreted in urine. We suggest this process should be applied to MPS screening as well as to follow-up of patients on treatment.

Relatamos o caso de um paciente adulto, imunocompetente, com eumicetoma por Madurella mycetomatis, localizado nos glúteos e coxas, diagnosticado após 30 anos de evolução clínica. Tratado no decorrer de quatro anos com fluconazol e itraconazol, associado a cinco tempos cirúrgicos de exérese dos nódulos subcutâneos. No oitavo ano de follow-up ocorreu recidiva de apenas um nódulo na região infraglútea, o qual foi excisado cirurgicamente, mantendo-se assintomático desde então.

We report a case of eumycetoma by Madurella mycetomatis on the buttocks and thighs in an adult immunocompetent patient, diagnosed after 30 years of clinical development. He was treated over four years with fluconazol and itraconazol associated with five times surgical excisions of subcutaneous nodules. At the eighth year of follow-up, one nodule recurred on the right infragluteal region, which was excised surgically and has remained asymptomatic ever since.

Infantile GM1 gangliosidosis is caused by the absence or reduction of lysosomal beta-galactosidase activity. Studies conducted in Brazil have indicated that it is one of the most frequent lysosomal storage disorders in the southern part of the country. To assess the incidence of this disorder, 390 blood donors were tested for the presence of two common mutations (1622-1627insG and R59H) in the GLB1 gene. Another group, consisting of 26 GM1 patients, and the blood donors were tested for the presence of two polymorphisms (R521C and S532G), in an attempt to elucidate whether there is a founder effect. The frequencies of the R59H and 1622-1627insG mutations among the GM1 patients studied were 19.2% and 38.5%, respectively. The frequency of polymorphism S532G was 16.7%, whereas R521C was not found in the patients. The overall frequency of either R59H or 1622-1627insG was 57.7% of the disease-causing alleles. This epidemiological study suggested a carrier frequency of 1:58. Seven different haplotypes were found. The 1622-1627insG mutation was not found to be linked to any polymorphism, whereas linkage disequilibrium was found for haplotype 2 (R59H, S532G) (p < 0.001). These data confirm the high incidence of GM1 gangliosidosis and the high frequency of two common mutations in southern Brazil.

A doença de Gaucher é uma esfingolipidose caracterizada pelo acúmulo de glicosilceramida. O objetivo deste estudo foi desenvolver metodologia baseada na extração, purificação e quantificação da glicosilceramida plasmática a qual possa ser usada em laboratórios de pesquisa clínica. Após o desenvolvimento desta metodologia, foi proposto, também, comparar o conteúdo de glicosilceramida presente no plasma de pacientes com doença de Gaucher, submetidos ou não a tratamento, com aquele de indivíduos normais. A glicosilceramida, separada de outros glicoesfingolipídios por cromatografia de camada delgada de alto desempenho (HPTLC), foi revelada quimicamente (CuSO4/H3PO4) e a respectiva banda foi confirmada por imunorrevelação (anticorpo anti-glicosilceramida humana/anticorpo secundário conjudado à peroxidase). A quantificação do cromatograma por densitometria demonstrou que o conteúdo de glicosilceramida nos pacientes com doença de Gaucher era 17 vezes maior que aquele de indivíduos normais e 7 vezes maior que aquele dos pacientes com doença de Gaucher submetidos a tratamento com terapia de reposição enzimática. Os resultados obtidos demonstram que a metodologia estabelecida pode ser usada como diagnóstico complementar e como monitoração do tratamento de pacientes com doença de Gaucher.

Gaucher disease is a sphingolipidosis that leads to an accumulation of glucosylceramide. The objective of this study was to develop a methodology, based on the extraction, purification and quantification of glucosylceramide from blood plasma, for use in clinical research laboratories. Comparison of the glucosylceramide content in plasma from Gaucher disease patients, submitted to enzyme replacement therapy or otherwise, against that from normal individuals was also carried out. The glucosylceramide, separated from other glycosphingolipids by high performance thin layer chromatography (HPTLC) was chemically developed (CuSO4 / H3PO4) and the respective band confirmed by immunostaining (human anti-glucosylceramide antibody / peroxidase-conjugated secondary antibody). Chromatogram quantification by densitometry demonstrated that the glucosylceramide content in Gaucher disease patients was seventeen times higher than that in normal individuals, and seven times higher than that in patients on enzyme replacement therapy. The results obtained indicate that the methodology established can be used in complementary diagnosis and for treatment monitoring of Gaucher disease patients.

Lavrador, com 73 anos, residente em área rural apresentava há 15 anos lesões tumorais disseminadas na perna esquerda. Exame histopatológico de biópsia de pele mostrou hiperplasia pseudo-epiteliomatosa e processo inflamatório crônico granulomatoso com células muriformes, confirmando o diagnóstico de cromoblastomicose (CBM). Cladophialophora carrionii foi isolado na cultura. Tratamento com itraconazol 400 mg/dia durante 12 meses resultou na completa remissão das lesões. Este é o primeiro relato de CBM causado por C. carrionii no estado do Rio de Janeiro, Brasil.

A 73 year-old male farm laborer from a rural area presented a 15 year history of extensive tumoral lesions over his left leg. Histological studies of skin biopsy showed pseudoepitheliomatous hyperplasia and granulomatous chronic inflammatory process with muriform cells, confirming chromoblastomycosis (CBM). Cladophialophora carrionii was isolated in culture. Treatment with itraconazole 400 mg/day for 12 months resulted in complete remission of lesions. As far we aware, this is the first case report of CBM caused by Cladophialophora carrionii in Rio de Janeiro State, Brazil.

Achados de necropsia em três casos de toxoplasmose ocorridos naturalmente em macacos-de-cheiro (Saimiri sciureus) obtidos de capturas na região Amazônica foram descritos. A avaliação histopatológica do fígado, baço, rins e linfonodos mesentéricos mostrou múltiplos focos de inflamação e necrose. Cistos morfológicos típicos e bem definidos de Toxoplasma gondii e formas livres foram detectados pelo método da imunoperoxidase com infiltrados inflamatórios. A presença de T. gondii na colônia de primatas estudada pode influenciar severamente os resultados de experimentos realizados nos animais.

Necropsy findings in three cases of naturally occurring toxoplasmosis in squirrel monkeys (Saimiri sciureus) obtained as wild catches from the Amazon region were described. Histopathological evaluation of the liver, spleen, kidneys and mesenteric lymph nodes showed multiple foci of inflammation and necrosis. Typical, well-defined morphologic Toxoplasma gondii cysts and free forms of the parasite were found by immunoperoxidase staining within inflammatory infiltrates. The presence of T. gondii in the studied colony could severely influence the results of experiments performed in the animals.

In a recent outbreak of human ocular injuries that occurred in the town of Araguatins, at the right bank of Araguaia river, state of Tocantins, Brazil, along the low water period of 2005, two patients (8 and 12-year-old boys) presented inferior adherent leukoma in the left eye (OS), and peripherical uveites, with snowbanking in the inferior pars plana. The third one (13-year-old girl) showed posterior uveites in OS, also with snowbanking. Histopathological analysis of lensectomy material from the three patients and vitrectomy from the last one revealed several silicious spicules (gemmoscleres) of the freshwater sponges Drulia uruguayensis and D. ctenosclera. This work brings material evidences, for the first time in the literature, that freshwater sponge spicules may be a surprising new etiological agent of ocular pathology.

We have determined the complete nucleotide and the deduced amino acid sequences of Brazilian dengue virus type 3 (DENV-3) from a dengue case with fatal outcome, which occurred during an epidemic in the state of Rio de Janeiro, Brazil, in 2002. This constitutes the first complete genetic characterization of a Brazilian DENV-3 strain since its introduction into the country in 2001. DENV-3 was responsible for the most severe dengue epidemic in the state, based on the highest number of reported cases and on the severity of clinical manifestations and deaths reported.

Objetivo: O objetivo deste trabalho é analisar a regeneração morfológica de tecido esplênico auto-implantado em ratos Wistar, verificando a função fagocitária bacteriana de seus macrófagos. Métodos: Utilizou-se um modelo experimental com ratos jovens e adultos, de ambos os sexos, submetidos a esplenectomia total combinada com auto-implante de fatias de toda a massa esplênica no omento maior. Dezesseis semanas após, os animais foram inoculados por via intravenosa com suspensão de Escherichia coli AB1157 e, após 20 minutos, foram mortos por dose letal de halotano, sendo submetidos a laparotomia para retirada dos auto-implantes esplênicos. A análise estatística foi realizada com o teste t de Student, com ênfase na comparação da massa de auto-implante esplênico regenerada entre animais jovens e adultos de ambos os sexos. Resultados: Ocorreu regeneração do auto-implante esplênico em todos os animais. Machos jovens e fêmeas adultas apresentaram maior percentual de regeneração. Observou-se aspecto morfológico microscópico semelhante em todos os animais. O tecido esplênico regenerado mostrou as polpas vermelha e branca, com desarranjo arquitetural moderado, bem como folículos linfóides. Os vasos sangüíneos mostravam paredes preservadas, sem sinais de vasculite ou trombose. Foram encontrados macrófagos contendo grumos de bactérias, bem como macrófagos contendo pigmento de hemossiderina intracitoplasmáticos. Conclusão: O auto-implante esplênico, no omento maior, em ratos, adquire a arquitetura macro e microscópica de um baço normal, de dimensão menor e preserva a função fagocitária bacteriana.

Purpose: To analyze the morphologic regeneration of autotransplanted splenic tissue in Wistar rats and to determine the bacterial phagocytic function of their macrophages. Methods: We utilized an experimental model including young and adult rats, of both sexes, submitted to total splenectomy combined with autotransplantation in the greater omentum of slices of the whole mass of spleen. Sixteen weeks later animals were intravenously inoculated with a suspension of Escherichia coli AB1157, and twenty minutes later killed with lethal dose of halothane and submitted to laparotomy for splenic autotransplants retrieval. Data were analyzed statistically by de Student-t test, with emphasis on the comparison of the extent level of autotransplanted splenic mass regeneration between young and adult animals of both sexes. Results: There was regeneration of autotransplanted splenic tissue in all animals. Young males and adult females presented greater regeneration. A similar morphological aspect among all animals was observed, with splenic tissue showing red and white pulps with a moderate architectural disarrangement, as well as lymphoid follicles. Blood vessels showed preserved walls, with no signs of vasculitis or thrombosis. Macrophages containing bacterial aggregates were observed, as well as macrophages with hemosiderin pigments inside the cytoplasm. Conclusion: The present results suggest that splenic autotransplant in the greater omentum of the rat acquires the macro- and microscopic architecture of a normal spleen, with reduced dimensions, and preserves bacterial phagocyte function.

Despite toxoplasmosis being a common infection among human and other warm-blooded animals worldwide, there are no findings about Toxoplasma gondii evolutionary forms in ancient populations. The molecular techniques used for amplification of genetic material have allowed recovery of ancient DNA (aDNA) from parasites contained in mummified tissues. The application of polymerase chain reaction (PCR) to paleoparasitological toxoplasmosis research becomes a promising option, since it might allow diagnosis, acquisition of paleoepidemiological data, access to toxoplasmosis information related origin, evolution, and distribution among the ancient populations.Furthermore, it makes possible the analysis of parasite aDNA aiming at phylogenetic studies. To standardize and evaluate PCR applicability to toxoplasmosis paleodiagnostic, an experimental mummification protocol was tested using desiccated tissues from mice infected with the ME49 strain cysts, the chronic infection group (CIG), or infected with tachyzoites (RH strain), the acute infection group (AIG). Tissues were subjected to DNA extraction followed by PCR amplification of T. gondii B1 gene. PCR recovered T. gondii DNA in thigh muscle, encephalon, heart, and lung samples. AIG presented PCR positivity in encephalon, lungs, hearts, and livers. Based on this results, we propose this molecular approach for toxoplasmosis research in past populations.

The effect of four antibiotics (amikacin, clindamycin, cephalothin and vancomycin) was investigated considering that bacterial infection in fibroblasts cultures is a very frequent event. The investigation included the effect of the antibiotics on fibroblast growth and on the activity of the enzyme glucocerebrosidase. The antibiotics were added to the fibroblast cultures and cell growth was evaluated by counting the number of cells and their viability. After cell harvesting, the enzyme activity and content of protein were measured. The results allowed us to conclude that none of the antibiotics affected the cellular number nor the cellular viability. The content of protein decreased when cephalothin and clindamycin were added to the cultures, and glucocerebrosidase was affected in the presence of amikacin. Vancomycin did not interfere with any of the parameters analyzed, so it was chosen to be used in cell cultures to prevent the contamination by gram positive bacteria.

A detecção de Toxoplasma gondii no sangue venoso e na placenta de gestantes pela reação de polimerase em cadeia pode facilitar o diagnóstico pré-natal da toxoplasmose congênita. Foram avaliadas gestantes IgM-reagentes e os seus filhos. Além das dosagens de IgG, IgM, IgA e reação de avidez de IgG (MEIA), foram realizadas a técnica de imunoperoxidase e a inoculação em camundongos. De cada amostra foi efetuada amplificação gênica com primers do gene B1 e novos primers do gene TGR (chamados ABGTg7 C1 e N1). É preciso observar que o tratamento poderia ser responsável por uma diminuição da infecção. Desta forma, o diagnóstico negativo confirmaria a eficiência do tratamento preventivo na replicação parasitária no útero. A reação de polimerase em cadeia mostrou-se sensível e específica; evidenciou a presença de um a dez taquizoítas; pode ser utilizada com segurança e confiabilidade, além de tornar rápido o diagnóstico da toxoplasmose congênita, sendo, assim, ferramenta importante na avaliação pré-natal.

The Toxoplasma gondii detection in venous blood and placenta of pregnants by polymerase chain reaction may facilitate the diagnosis of congenital toxoplasmosis. We evaluated pregnants with reagent immunoglobulin M (IgM) and their children. Beyond serological toxoplasma-specific immunoglobulins G (IgG), M (IgM), A (IgA) and IgG avidity (MEIA), we did immunoperoxidasis and mice inoculation. Genomic amplification with gene B1 primers and new TgR primers (called ABGTg7 C1 and N1) was conducted for each sample. It's necessary to observe that treatment probably is responsible for the infection decrease, that manner, negative results would confirm uteri therapeutic efficiency. PCR was sensitive and specific, it identified one to ten tachyzoites. Besides being a fast form of congenital toxoplasmosis diagnosis, it may be used safely and trustly, as an important tool for congenital evaluation.

Esta série de casos foi conduzida com o objetivo de descrever a apresentação clínica, as características epidemiológicas, os exames laboratoriais e a evolução dos casos de angiomatose bacilar (e/ou peliose parenquimatosa bacilar) ocorridos em cinco hospitais públicos do Rio de Janeiro, no período de 1990 a 1997, comparando a casuística encontrada com a relatada na literatura médica. Foram incluídos 13 pacientes com mediana de idade de 39 anos, sendo todos pertencentes ao sexo masculino. Todos os pacientes apresentaram infecções oportunistas e/ou neoplasias associadas ao vírus da imunodeficiência humana (HIV-1) anteriores (ou concomitantes) ao diagnóstico de angiomatose bacilar. A mediana da contagem de linfócitos T Helper encontrada foi de 96 células por mm³. O acometimento cutâneo foi a apresentação clínica de angiomatose bacilar mais freqüente deste estudo. A freqüência de remissão após tratamento específico foi discretamente maior do que a relatada na literatura médica, enquanto a de recidiva foi semelhante. A freqüência de angiomatose bacilar entre indivíduos infectados pelo HIV de dois hospitais do Rio de Janeiro foi de 1,42 casos por 1.000 pacientes, semelhante ao relatado na literatura médica e sugestivo de que a angiomatose bacilar é relativamente incomum em nosso meio.

The aim of this case series was to describe the clinical, laboratory and epidemiological characteristics and the presentation of bacillary angiomatosis cases (and/or parenchymal bacillary peliosis) that were identified in five public hospitals of Rio de Janeiro state between 1990 and 1997; these cases were compared with those previously described in the medical literature. Thirteen case-patients were enrolled in the study; the median age was 39 years and all patients were male. All patients were human immunodeficiency virus type 1 (HIV-1) infected and they had previous or concomitant HIV-associated opportunistic infections or malignancies diagnosed at the time bacillary angiomatosis was diagnosed. Median T4 helper lymphocyte counts of patients was 96 cells per mm³. Cutaneous involvement was the most common clinical manifestation of bacillary angiomatosis in this study. Clinical remission following appropriate treatment was more common in our case series than that reported in the medical literature, while the incidence of relapse was similar. The frequency of bacillary angiomatosis in HIV patients calculated from two of the hospitals included in our study was 1.42 cases per 1000 patients, similar to the frequencies reported in the medical literature. Bacillary angiomatosis is an unusual opportunistic pathogen in our setting.