LESLIE DOMENICI KULIKOWSKI

(Fonte: Lattes)
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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

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Revista / Livro: Arquivos Brasileiros de Cardiologia ×

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Agora exibindo 1 - 4 de 4
  • article 1 Citação(ões) na Scopus
    Cytogenomics Investigation of Infants with Congenital Heart Disease: Experience of a Brazilian Center
    (2022) GRASSI, Marcilia Sierro; MONTENEGRO, Marilia; ZANARDO, Evelin Aline; PASTORINO, Antonio Carlos; DORNA, Mayra Barros; KIM, Chong; JATENE, Marcelo; MIURA, Nana; KULIKOWSKI, Leslie; CARNEIRO-SAMPAIO, Magda
    Background: Some syndromes have specific and easily recognizable features, while others may be more complex to identify and may present different phenotypic manifestations, for example. An etiological diagnosis is important to understand the nature of the disease, to establish the prognosis and to start the treatment, allowing the inclusion of patients in society and reducing the financial cost of such diseases. Objective: The initial proposal of this study was cytogenetic screening for the detection of the 22q11.2 deletion syndrome in consecutive newborns and infants with congenital heart disease using the multiplex ligation-dependent probe amplification (MLPA) technique. Therefore, throughout our research, other genomic alterations were identified in these cardiac patients. Thus, our objective was extended to investigate these other cytogenetic alterations. Methods: We investigated 118 neonates with congenital heart diseases born consecutively during one year using the MLPA technique. Results: The MLPA technique allowed the detection of 22q11.2DS in 10/118 patients (8.5%). Other genomic alterations were also identified in 6/118 patients (5%): 1p36 del, 8p23 del (2 cases), 7q dup, 12 dup and 8q24 dup. Conclusion: This study highlights the relevance of detecting genomic alterations that are present in newborns and infants with congenital cardiac diseases using cytogenomic tools.
  • article 12 Citação(ões) na Scopus
    Cardiopatias Congênitas como um Sinal de Alerta para o Diagnóstico da Deleção do 22q11.2
    (2014) GRASSI, Marcilia S.; JACOB, Cristina M. A.; KULIKOWSKI, Leslie D.; PASTORINO, Antonio C.; DUTRA, Roberta L.; MIURA, Nana; JATENE, Marcelo B.; PEGLER, Stephanie P.; KIM, Chong A.; CARNEIRO-SAMPAIO, Magda
    Background: To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD). Objective: To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. Methods: The study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M: F = 1.3, age range 14 days to 20 years and 3 months) at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18) and/or MLPA (n = 42), in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed. Results: CHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%). Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60%) and/or elongated nose (53.3%), narrow palpebral fissure (50%), dysplastic, overfolded ears (48.3%), thin lips (41.6%), elongated fingers (38.3%) and short stature (36.6%). Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH) level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM) in two other patients. Conclusion: Suspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients.
  • article 11 Citação(ões) na Scopus
    I DIRETRIZ DE INSUFICIÊNCIA CARDÍACA (IC) E TRANSPLANTE CARDÍACO, NO FETO, NA CRIANÇA E EM ADULTOS COM CARDIOPATIA CONGÊNITA, DA SOCIEDADE BRASILEIRA DE CARDIOLOGIA
    (2014) AZEKA, E.; JATENE, M. B.; JATENE, I. B.; HOROWITZ, E. S. K.; BRANCO, K. C.; SOUZA NETO, J. D.; MIURA, N.; MATTOS, S.; AFIUNE, J. Y.; TANAKA, A. C.; SANTOS, C. C. L.; GUIMARAES, I. C. B.; MANSO, P. H.; PELLIZARI, R. C. R. S.; SANTOS, M. V. C.; THOMAZ, A. M.; CRISTOFANI, L. M.; RIBEIRO, A. C. L.; KULIKOWSKI, L. D.; SAMPAIO, M. C.; PEREIRA, A. C.; SOARES, A. M.; SOARES JUNIOR, J.; OH, G. H. Y.; MOREIRA, V; MOTA, C. C. C.; AFIUNE, C. M. C.; PEDRA, C.; PEDRA, S.; PEDROSA, A.; GUIMARAES, V; CANEO, L. F.; FERREIRO, C. R.; CAVALHEIRO FILHO, C.; STEFANELLO, B.; NEGRAO, C. E.; TURQUETTO, A. L. R.; MESQUITA, S. M. F.; MAEDA, W. T.; ZORZANELLI, L.; PANAJOTOPOLOS, N.; SIQUEIRA, A. W. S.; GALAS, F. R. B.; HAJJAR, L. A.; BENVENUTI, L. A.; VINCENZI, P.; ODONE, V; LOPES, M. H.; V, T. M. Strabelli; FRANCHI, S. M.; TAKEUTI, A. D.; DUARTE, M. F.; LEON, R. G. P.; HERMIDA, R. P. M.; SORPRESO, I. C. E.; SOARES JUNIOR, J. M.; MELO, N. R.; BARACAT, E. C.; BORTOLOTTO, M. R. F. L.; SCANAVACCA, M.; SHIMODA, M. S.; FORONDA, G.; ROMANO, B. W.; SILVA, D. B.; OMURA, M. M.; BARBEIRO, C. P. M.; VINHOLE, A. R. G.; PALOMO, J. S. H.; GONCALVES, M. A. B.; REIS, I. C. F.; OLIVEIRA, L. G.; RIBEIRO, C. C.; ISOSAKI, M.; VIEIRA, L. P.; FELTRIM, M. I. Z.; MANOEL, L. A.; ABUD, K. C. O.; PASCHOTTO, D. R.; NEVES, I. L. I.; SENAHA, L. E.; GARCIA, A. C. C. N.; CIPRIANO, S. L.; SANTOS, V. C.; FERRAZ, A. S.; MOREIRA, A. E. L. C.; PAULO, A. R. S. A. De; DUQUE, A. M. P. C.; TRINDADE, E.; BACAL, F.; AULER JUNIOR, J. O. C.; ALMEIDA, D. R.
  • article 17 Citação(ões) na Scopus
    Investigation of Copy Number Variation in Children with Conotruncal Heart Defects
    (2015) CAMPOS, Carla Marques Rondon; ZANARDO, Evelin Aline; DUTRA, Roberta Lelis; KULIKOWSKI, Leslie Domenici; KIM, Chong Ae
    Background: Congenital heart defects (CHD) are the most prevalent group of structural abnormalities at birth and one of the main causes of infant morbidity and mortality. Studies have shown a contribution of the copy number variation in the genesis of cardiac malformations. Objectives: Investigate gene copy number variation (CNV) in children with conotruncal heart defect. Methods: Multiplex ligation-dependent probe amplification (MLPA) was performed in 39 patients with conotruncal heart defect. Clinical and laboratory assessments were conducted in all patients. The parents of the probands who presented abnormal findings were also investigated. Results: Gene copy number variation was detected in 7/39 patients: 22q11.2 deletion, 22q11.2 duplication, 15q11.2 duplication, 20p12.2 duplication, 19p deletion, 15q and 8p23.2 duplication with 10p12.31 duplication. The clinical characteristics were consistent with those reported in the literature associated with the encountered microdeletion/microduplication. None of these changes was inherited from the parents. Conclusions: Our results demonstrate that the technique of MLPA is useful in the investigation of microdeletions and microduplications in conotruncal congenital heart defects. Early diagnosis of the copy number variation in patients with congenital heart defect assists in the prevention of morbidity and decreased mortality in these patients.