LESLIE DOMENICI KULIKOWSKI
Projetos de Pesquisa
Unidades Organizacionais
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina
LIM/03 - Laboratório de Medicina Laboratorial, Hospital das Clínicas, Faculdade de Medicina - Líder
LIM/03 - Laboratório de Medicina Laboratorial, Hospital das Clínicas, Faculdade de Medicina - Líder
33 resultados
Resultados de Busca
Agora exibindo 1 - 10 de 33
conferenceObject Clinical, cytogenetic and molecular characterization of three patients with r(22), including one with 22q11.2 deletion(2013) GUILHERME, Roberta Santos; KIM, Chong Ae; BRUNONI, Decio; SPINNER, Nancy Bettina; CONLIN, Laura Kathleen; DABER, Robert; CHRISTOFOLINI, Denise Maria; KULIKOWSKI, Leslie Domenici; MELARAGNO, Maria IsabelconferenceObject Pineal region high grade neuroepithelial tumors with NTRK fusions belonging to the novel methylation class ""diffuse high grade glioma, IDH-wildtype, subtype E"" (HGG_E)-A distinct clinicopathological and molecular presentation(2023) COSTA, F. D'Almeida; CASTRO, J. V. Alves de; KULIKOWSKI, L. Domenici; WOLFF, B.; GREGIANIN, L. J.; NETO, C. Scapulatempo; KOTIDIS, C.; DALAHMAH, O. Al; CANOLL, P.; BRUCE, J.; ALDAPE, K.; ABDULLAEV, Z.; NASRALLAH, M.; ZANAZZI, G.conferenceObject BLM, FOXO3, FOXK2, FOXM1, FOXR1 genes as therapeutic targets to neuroblastoma(2018) GIMENEZ, Thamiris Magalhaes; NEVES, Nathalia Halley; SANTOS, Andreia Rangel; MARCHI, Fabio A.; KULIKOWSKI, Leslie; CRISTOFANI, Lilian M.; NOVAK, Estela M.; ODONE FILHO, VicenteconferenceObject Molecular autopsy reveals clues for genetic basis of congenital valve defect(2019) MADIA, F. A. R.; DIAS, A. T.; ZANARDO, E. A.; DAMASCENO, J. G.; NASCIMENTO, A. M.; COSTA, T. V. M. M.; CHEHIMI, S. N.; NOVO-FILHO, G. M.; MONTENEGRO, M. M.; OLIVEIRA, Y. G.; FREITAS, A. B.; VIEIRA, L. L.; SCHULTZ, R.; GONCALVES, F. T.; FRIDMAN, C.; KIM, C. A.; KULIKOWSKI, L. D.conferenceObject Balanced X autosome translocation suggests association of AMMECR1 disruption with hearing loss short stature bone and heart alterations(2017) MOYSES-OLIVEIRA, Mariana; FISH, Richard; GIANNUZZI, Giuliana; KARACA, Ender; AKDEMIR, Zeynep; PETIT, Florence; MELONI, Vera; SOARES, Maria; KULIKOWSKI, Leslie; BATTISTA, Adriana Di; ZAMARIOLLI, Malu; LIEHR, Thomas; KOSYAKOVA, Nadezda; CARVALHEIRA, Gianna; ANDRIEUX, Joris; NEERMAN-ARBEZ, Marguerite; LUPSKI, James; MELARAGNO, Maria Isabel; REYMOND, AlexandreconferenceObject Detection of 22q11.2 Deletion in Infants with Congenital Heart Disease (Preliminary Data)(2013) CARNEIRO-SAMPAIO, M.; GRASSI, M. Sierro; KULIKOWSKI, L. Domenici; JACOB, C. Miuki Abe; DUTRA, R. Lelis; MIURA, N.; CECCON, M. E. Jurfest Rivero; KREBS, V. L. Jornada; CARVALHO, W. Brunow; JATENE, M.conferenceObject Investigating the CNVs in routine diagnostics using WES and array in Brazilian patients(2019) ZANARDO, E. A.; CHEHIMI, S. N.; MONTEIRO, F. P.; MADIA, F. A. R.; NOVO-FILHO, G. M.; DIAS, A. T.; MONTENEGRO, M. M.; OLIVEIRA, Y. G.; VIEIRA, L. L.; ROCHA, M.; BRASIL, A. S.; NASCIMENTO, A. M.; COSTA, T. V. M. M.; DAMASCENO, J. G.; KOK, F.; KIM, C. A.; KULIKOWSKI, L. D.conferenceObject NATURAL KILLER CELL DEFICIENCY IN PATIENTS WITH MUCOPOLYSACCHARIDOSES(2012) TORRES, L. C.; QUAIO, C. R. D. C.; FRANCO, J. F.; GOMY, I.; BERTOLA, D. R.; KULIKOWSKI, L. D.; SAMPAIO, M. Carneiro; KIM, C. A.Mucopolysaccharidoses (MPSs) are a group of inherited metabolic disorders characterized by the deficient activity of catabolic enzymes in the lysosomes and its consequent abnormal accumulation of deposits of glycosaminoglycans. The lysosomal dysfuction caused by this irregular storage is responsible for the clinical manifestations seen in MPS. Once the lysosome is also important for normal functioning of the immune system, playing a key role in the expression of cellular membrane receptors, the presentation of antigens, the secretion of cytokines and phagocytosis, we presume that these processes may be impaired in patients with MPS. The presence of recurrent respiratory infections in these individuals may be a clinical clue of the immune dysregulation in MPSs. Natural Killer (NK) cells play an important role in first-line, innate defense against viral infection and tumor transformation. Their activation is the net result of signals emanating of inhibitory and activating receptors, among which the NKG2D activating receptor plays a major role. We evaluated the innate immunity of 15 patients with MPSs types I, II, IV and VI and performed the immunophenotyping of NK cells and the NKG2D receptors expression by Flow Cytometry. All MPSs patients have NK cells deficiency and decreased NKG2D receptors expression on NK cells in 2 patients. We report here that MPSs patients have a deficiency of innate immunity with NK cells deficiency. To the best of our knowledge, these findings have not been previously described.conferenceObject Investigation of the DNA methylation profile in children presenting emergence delirium(2021) QUINTAO, Vinicius; KULIKOWSKI, Leslie; CARMONA, MariaconferenceObject Multiplex Ligation Probe-dependent Amplification (MLPA) as an ancillary method for the diagnosis of malignant pleural effusion(2012) PARRA, E.; ROSOLEN, D.; KULIKOWSKI, L.; DUTRA, R.; CAPELOZZI, V. L.; VARGAS, F.; ACENCIO, M.; ANTONANGELO, L.Objective: A definitive diagnosis provided by the finding of malignant cells in pleural fluid (PF) can be established in around 50 % of patients with pleural malignancy. However, underdiagnosis risk in cytological suspicious cases is high, which makes the cytological diagnosis quite limited. This is an important clinical problem, especially if we consider that some patients, in bad clinical conditions, can not be submitted to a guided thoracoscopic biopsy. Method: Using multiplex ligation probe-dependent amplification (P315-MRC-Holland) we have studied sequence variations of EGFR gene and amplifications/deletions of chromosomal regions frequently associated to tumors (ATG4B, PAHs, PROS, NSD1, and CDGIF genes). Results: Forty-three malignant PF samples from patients with different cancers were evaluated, even in those cases with scarce pellet cells. Four benign pleural effusions were used as control. Gene sequence changes were observed in 13 (30.2 %) cases, while others copy number abnormalities were found in 19 (44.2 %). Conclusion: The findings suggest that MLPA could be considered an alternative tool to detect molecular genetic changes in malignant pleural effusions, since this technique is relatively low expensive and not time consuming. Our next challenge is to find the best combination of probes capable to recognize malignant cells of any origin in fresh samples of PF.