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Blood ; 135(4): 274-286, 2020 Jan 23.
Artigo em Inglês | MEDLINE | ID: mdl-31738823


Pediatric large B-cell lymphomas (LBCLs) share morphological and phenotypic features with adult types but have better prognosis. The higher frequency of some subtypes such as LBCL with IRF4 rearrangement (LBCL-IRF4) in children suggests that some age-related biological differences may exist. To characterize the genetic and molecular heterogeneity of these tumors, we studied 31 diffuse LBCLs (DLBCLs), not otherwise specified (NOS); 20 LBCL-IRF4 cases; and 12 cases of high-grade B-cell lymphoma (HGBCL), NOS in patients ≤25 years using an integrated approach, including targeted gene sequencing, copy-number arrays, and gene expression profiling. Each subgroup displayed different molecular profiles. LBCL-IRF4 had frequent mutations in IRF4 and NF-κB pathway genes (CARD11, CD79B, and MYD88), losses of 17p13 and gains of chromosome 7, 11q12.3-q25, whereas DLBCL, NOS was predominantly of germinal center B-cell (GCB) subtype and carried gene mutations similar to the adult counterpart (eg, SOCS1 and KMT2D), gains of 2p16/REL, and losses of 19p13/CD70. A subset of HGBCL, NOS displayed recurrent alterations of Burkitt lymphoma-related genes such as MYC, ID3, and DDX3X and homozygous deletions of 9p21/CDKN2A, whereas other cases were genetically closer to GCB DLBCL. Factors related to unfavorable outcome were age >18 years; activated B-cell (ABC) DLBCL profile, HGBCL, NOS, high genetic complexity, 1q21-q44 gains, 2p16/REL gains/amplifications, 19p13/CD70 homozygous deletions, and TP53 and MYC mutations. In conclusion, these findings further unravel the molecular heterogeneity of pediatric and young adult LBCL, improve the classification of this group of tumors, and provide new parameters for risk stratification.

Haematologica ; 104(9): 1822-1829, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30733272


Burkitt-like lymphoma with 11q aberration is characterized by pathological features and gene expression profile resembling those of Burkitt lymphoma but lacks the MYC rearrangement and carries an 11q-arm aberration with proximal gains and telomeric losses. Whether this lymphoma is a distinct category or a particular variant of other recognized entities is controversial. To improve the understanding of Burkitt-like lymphoma with 11q aberration we performed an analysis of copy number alterations and targeted sequencing of a large panel of B-cell lymphoma-related genes in 11 cases. Most patients had localized nodal disease and a favorable outcome after therapy. Histologically, they were high grade B-cell lymphoma, not otherwise specified (8 cases), diffuse large B-cell lymphoma (2 cases) and only one was considered as atypical Burkitt lymphoma. All cases had a germinal center B-cell signature and phenotype with frequent LMO2 expression. The patients with Burkitt-like lymphoma with 11q aberration had frequent gains of 12q12-q21.1 and losses of 6q12.1-q21, and lacked common Burkitt lymphoma or diffuse large B-cell lymphoma alterations. Potential driver mutations were found in 27 genes, particularly involving BTG2, DDX3X, ETS1, EP300, and GNA13 However, ID3, TCF3, or CCND3 mutations were absent in all cases. These results suggest that Burkitt-like lymphoma with 11q aberration is a germinal center-derived lymphoma closer to high-grade B-cell lymphoma or diffuse large B-cell lymphoma than to Burkitt lymphoma.

Pediatr Allergy Immunol ; 29(4): 425-432, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29532571


BACKGROUND: One of the most frequent non-infectious complications of humoral immunodeficiencies with a CVID-like pattern is a particular form of inflammatory lung disease which is called granulomatous-lymphocytic interstitial lung disease (GLILD). Its development worsens patient prognosis, with a significant decrease in survival. Currently, there are no unified guidelines regarding its management, and different combinations of immunosuppressants have been used with variable success. METHODS: Clinical and radiological data were collected from patient's medical charts. Flow cytometry was performed to characterize the immunological features with special focus in regulatory T cells (Tregs). RESULTS: A 16-year-old girl with Kabuki syndrome and a 12-year-old boy, both with a CVID-like humoral immunodeficiency on immunoglobulin replacement treatment, developed during follow-up an inflammatory complication radiologically, clinically, and histologically compatible with GLILD. They required treatment, and sirolimus was started, with very good response and no serious side effects. CONCLUSIONS: These 2 cases provide insight into the underlying local and systemic immune anomalies involved in the development of GLILD, including the possible role of Tregs. Combined chemotherapy is commonly used as treatment for GLILD when steroids fail, but there have been some reports of successful monotherapy. As far as we know, these are the first 2 GLILD patients treated successfully with sirolimus, suggesting the advisability of further study of mTOR inhibitors as a more targeted treatment for GLILD, if impairment in Tregs is demonstrated.

Síndromes de Imunodeficiência/complicações , Imunossupressores/uso terapêutico , Doenças Pulmonares Intersticiais/tratamento farmacológico , Sirolimo/uso terapêutico , Linfócitos T Reguladores/metabolismo , Anormalidades Múltiplas/imunologia , Adolescente , Biomarcadores/metabolismo , Criança , Face/anormalidades , Feminino , Doenças Hematológicas/complicações , Doenças Hematológicas/imunologia , Humanos , Síndromes de Imunodeficiência/imunologia , Doenças Pulmonares Intersticiais/diagnóstico , Doenças Pulmonares Intersticiais/imunologia , Masculino , Doenças Vestibulares/complicações , Doenças Vestibulares/imunologia
Rev. colomb. cienc. pecu ; 25(3): 409-416, jul.-set. 2012. tab
Artigo em Inglês | LILACS-Express | ID: lil-656969


To assess the physiological state of an animal, analysis and diagnostic tests comparable with defined reference values are necessary. These values are influenced by various factors and their definition should be based on the characteristics of each population. In the Veterinary Hospital of the University of Antioquia, universal reference values for hemogram are normally used. This represents a problem at the time of interpretation of results, due to local environmental factors that differ from the international ones, in which the reference values were originally defined. Objective: to determine reference limits of hemogram in clinically healthy dogs between 1 and 6 years of age, in the city of Medellín. Methods: retrospective study. In this study, medical records of healthy dogs attending the Veterinary Hospital of the Faculty of Agricultural Sciences of the University of Antioquia for ambulatory surgery, clinical examination, vaccination, and annual monitoring between 2002 and 2009 were analyzed. Information contained in medical records was collected using a questionnaire. The statistical analysis of the information was carried out using parametric and nonparametric methods. Results: reference limits were established. Significant statistically differences in some parameters of the hemogram in relation to variables such as age and breed of dogs were established. Conclusions: parameters of hemogram in evaluated dogs are related to physiological conditions such as age and race, as well as to environmental and nutritional conditions. Therefore, it is necessary to have reference values that match the characteristics of animals and the environment.

Para la determinación del estado fisiológico de un animal son necesarios análisis y pruebas diagnósticas comparables con valores de referencia definidos; estos valores se encuentran influenciados por diversos factores, y se establecen con base en las características propias de cada población. En el Hospital Veterinario de la Universidad de Antioquia se emplean valores de referencia universales para el hemograma, lo cual constituye un problema al momento de su interpretación, ya que los factores ambientales locales difieren de los internacionales donde los valores de referencia se definieron originalmente. Objetivo: determinar los límites de referencia del hemograma en perros entre 1 y 6 años de edad, clínicamente sanos de la ciudad de Medellín. Métodos: se diseñó un estudio retrospectivo para en el cual se analizaron historias clínicas de perros sanos que fueron llevados al Hospital Veterinario de la Facultad de Ciencias Agrarias de la Universidad de Antioquia a para cirugía ambulatoria, revisión general, vacunación, y control anual, entre los años 2002 y 2009. La información contenida en las historias clínicas se recopiló mediante el uso de una encuesta, y para su análisis se utilizó estadística paramétrica y no paramétrica. Resultados: se establecieron límites de referencia y se encontraron diferencias estadísticamente significativas en algunos parámetros del hemograma en relación con variables como edad y raza de los perros. Conclusión: los parámetros del hemograma en los perros evaluados se encuentran relacionados con condiciones fisiológicas como edad y raza, así como por condiciones medioambientales y de nutrición, por lo que es necesario tener límites de referencia que concuerden con las características propias de los animales y del medio.

O estado fisiológico de um animal é avaliado a partir de análises e provas diagnósticas comparáveis com valores de referência definidos. Esses valores estão influenciados por diversos fatores e são definidos com base nas características próprias de cada população. No Hospital Veterinário da Universidade de Antióquia são empregados limites de referência universais para o hemograma. Este é um problema no momento da interpretação, devido a que fatores ambientais locais são diferentes dos internacionais. Objetivo: o objetivo desta pesquisa foi determinar os limites de referência do hemograma em cães entre 1 e 6 anos de idade, clinicamente sadios, procedentes da cidade de Medellín. Métodos: foi desenhado um estudo retrospectivo no qual analisaram-se os prontuarios de cães sadios que foram submetidos a cirurgia ambulatória, revisão geral, vacinação e controle anual no Hospital Veterinário da Faculdade de Ciências Agrárias da Universidade de Antióquia entre os anos 2002 e 2009. A informação contida nos prontuarios foi recopilada mediante o uso de uma enquete e para sua análise utilizou-se estatística paramétrica e não paramétrica. Resultados: estabeleceram-se limites de referência e foram encontradas diferenças estatisticamente significativas em alguns parâmetros do hemograma como a idade e a raça dos cães. Conclusões: os parâmetros do hemograma nos cães avaliados estão relacionados com condições fisiológicas como idade e raça, assim como também por condições medioambientais e de nutrição. Por esta razão, é necessário ter limites de referência que estejam de acordo com as características próprias dos animais e do médio.