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1.
Leuk Lymphoma ; 63(3): 551-561, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34727830

RESUMO

Beyond MYC rearrangement, Burkitt lymphoma (BL) often presents with additional aberrations. Biopsy touch imprints from 72 children with BL were tested with interphase fluorescence in-situ hybridization (i-FISH) for MYC, BCL2, BCL6, IGH, IGK and IGL rearrangements and copy-number aberrations involving 1q21/1p32, 7cen/7q31, 9cen/9p21, 13q14/13q34 and 17cen/17p13. Diploid status deviations were investigated with chromosome enumeration probes. MYC rearrangement was demonstrated in all cases. Additional aberrations included +1q (21/72:29.2%), +7q (14/72:19.4%), 13q- (14/72:19.4%), 9p-(6/72:8.3%) and hyperdiploidy (6/72:8.3%). Advanced clinical stage IV, +7q and 9p- were associated with shorter overall survival, with stage IV and +7q retaining prognostic significance on multivariate analysis. No relapse or death was reported among the hyperdiploid cases. This i-FISH investigation provides information on the genetic profile of BL and may prove valuable for patients with no karyotype analysis. Demonstration of hyperdiploidy could evolve research on clonal evolution pathways and probably identify a subgroup of children with favorable prognosis.


Assuntos
Linfoma de Burkitt , Linfoma de Burkitt/diagnóstico , Linfoma de Burkitt/genética , Linfoma de Burkitt/patologia , Aberrações Cromossômicas , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Recidiva Local de Neoplasia
2.
Glob J Health Sci ; 8(2): 77-87, 2015 Jun 08.
Artigo em Inglês | MEDLINE | ID: mdl-26383219

RESUMO

Nowadays, thalassaemia major (TM) patients are surviving into mature young adulthood; however, no published instrument exists to measure the expectations' dimensionality among older TM patients in their thirties. This study seeks to validate a novel multidimensional expectation questionnaire suitable for TM patients (MEQ-TMP) reaching their fourth decade of life. In order to establish the psychometric properties of the instrument, data analysis was carried out. The principal component analysis revealed four components ('Supportive social network'; 'Raising one's own family'; 'Career advancement'; 'Ability of daily activities'). Their cumulative contribution rate was 66.32%. Cronbach's alpha for the total scale was 0.87. Each subscale had an alpha value above 0.70; three subscales were in the 0.80 range. MEQ-TMP reliability was proved to be good. The known-group method served as a strategy in examining the operationalisation of the questionnaire's constructs. The present MEQ-TMP, developed for the aged group of TM patients, would be a useful tool for clinical personnel providing care to TM patients in understanding their outlook on life as they are growing up, to have better psychosocial adjustment to illness chronicity, live life as normally as possible, and fulfill their ambitions; thus enhancing their life satisfaction and quality of life.


Assuntos
Qualidade de Vida , Inquéritos e Questionários , Talassemia beta/psicologia , Atividades Cotidianas , Adulto , Mobilidade Ocupacional , Família , Feminino , Grécia , Humanos , Masculino , Satisfação Pessoal , Análise de Componente Principal , Psicometria , Apoio Social
3.
Med Mycol ; 52(7): 715-22, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25056962

RESUMO

Aspergillus fumigatus isolation in cultures from respiratory specimens of patients with cystic fibrosis (CF) is quite common; however, the role of A. fumigatus as a pathogen and whether its presence is associated with progression of pulmonary disease remain unclear. We investigated the association between inhaled corticosteroids and the recovery of A. fumigatus by performing a retrospective cohort study of CF patients born between 1988 and 1996. The patients' medical records from their first visit to the CF Center until December 2010 were reviewed. Outcomes were the occurrence of A. fumigatus first isolation, chronic colonization, or the last visit at the CF Center. A number of possible confounders were included in the multivariate logistic regression analysis in order to identify an independent association between inhaled corticosteroids and colonization status. A total of 121 patients were included in the study. Thirty-nine patients (32.2%) had at least one positive culture and 14 (11.6%) developed chronic colonization. Multivariate logistic regression analysis was used to determine the independent effect of inhaled corticosteroids on the odds of first isolation (odds ratio [OR], 1.165; 95% confidence interval [CI], 1.015-1.337; P = 0.029) and chronic colonization (OR, 1.180; 95% CI, 1.029-1.353; P = 0.018). In conclusion, A. fumigatus first isolation and chronic colonization are associated with the duration of inhaled corticosteroid treatment.


Assuntos
Corticosteroides/uso terapêutico , Aspergillus fumigatus/isolamento & purificação , Portador Sadio/epidemiologia , Fibrose Cística/complicações , Fibrose Cística/tratamento farmacológico , Imunossupressores/uso terapêutico , Aspergilose Pulmonar/epidemiologia , Administração por Inalação , Adolescente , Corticosteroides/efeitos adversos , Adulto , Portador Sadio/microbiologia , Estudos de Coortes , Feminino , Humanos , Imunossupressores/efeitos adversos , Masculino , Modelos Estatísticos , Aspergilose Pulmonar/microbiologia , Estudos Retrospectivos , Fatores de Tempo , Adulto Jovem
4.
Pediatr Cardiol ; 34(6): 1476-81, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23463134

RESUMO

Kawasaki disease (KD) is an acute systemic vasculitis of childhood. The diagnosis is based on clinical criteria. However, the presentation of KD is incomplete/atypical for approximately 20 % of patients. Kawasaki disease is complicated with coronary artery lesions (CALs) and considered the most common cause of acquired heart disease in children. The medical records of children discharged with KD from a tertiary pediatric hospital in Athens, Greece, during a decade (2001-2010) were retrospectively analyzed. During the study period, KD was diagnosed for 86 children younger than 14 years of age. Complete diagnostic criteria were fulfilled by 64 of the children (74.4 %), whereas 25.6 % were considered incomplete cases. Cardiovascular complications were detected in 48 children (55.8 %) and CALs in 28 children (32.6 %). The prevalence of CALs did not differ significantly between complete and incomplete/atypical KD (42.2 vs 4.5 %; P = 0.001). Logistic regression analysis showed that erythema in the lips and oral cavity was associated with the development of CALs [odds ratio (OR), 3.03; 95 % confidence interval (CI), 1.051-8.783; P = 0.040]. Conversely, children with incomplete/atypical KD (OR, 0.092; 95 % CI, 0.010-0.816; P = 0.032) and previous antibiotic treatment (OR, 0.17; 95 % CI, 0.036-0.875; P = 0.034) were less likely to experience CALs. Children with an incomplete/atypical presentation of KD or before antibiotic treatment may be at lower risk for the development of CALs. Future multicenter studies may help to establish this association better.


Assuntos
Doença da Artéria Coronariana/epidemiologia , Síndrome de Linfonodos Mucocutâneos/complicações , Pré-Escolar , Intervalos de Confiança , Doença da Artéria Coronariana/diagnóstico , Doença da Artéria Coronariana/etiologia , Feminino , Seguimentos , Grécia/epidemiologia , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Fatores Imunológicos/uso terapêutico , Incidência , Lactente , Masculino , Síndrome de Linfonodos Mucocutâneos/diagnóstico , Síndrome de Linfonodos Mucocutâneos/tratamento farmacológico , Razão de Chances , Prognóstico , Estudos Retrospectivos , Fatores de Tempo
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