Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 4 de 4
Filtrar
Más filtros




Base de datos
Asunto de la revista
Intervalo de año de publicación
1.
Mol Cytogenet ; 16(1): 31, 2023 Nov 08.
Artículo en Inglés | MEDLINE | ID: mdl-37941034

RESUMEN

BACKGROUND: Richter transformation (RT) is the development of aggressive lymphoma in patients with chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma (SLL). This rare disease is characterised by dismal prognosis. In recent years, there has been a deeper understanding of RT molecular pathogenesis, and disruptions of apoptosis (TP53) and proliferation (CDKN2A, MYC, NOTCH1) has been described as typical aberrations in RT. RESULTS: A single-institution cohort of 33 RT patients were investigated by karyotyping, fluorescence in situ hybridization and single nucleotide polymorphism/copy number (CN) arrays. Most of RTs were typically manifested by diffuse large B-cell lymphoma, not otherwise specified, among the remaining cases one was classified as high-grade B-cell lymphoma with 11q aberrations. The most frequent alterations (40-60% of cases) were represented by MYC rearrangement/gain, deletions of TP53 and CDKN2A, IGH rearrangement and 13q14 deletion. Several other frequent lesions included losses of 14q24.1-q32.33, 7q31.33-q36.3, and gain of 5q35.2. Analysis of 13 CLL/SLL-RT pairs showed that RT arised from the CLL/SLL by acquiring of 10 ~ 12 cytogenetic or CN lesions/case, but without acquisition of loss of heterozygosity regions. Our result affirmed the higher genetic complexity in RT than CLL/SLL and confirmed the linear features of RT clonal evolution as predominant. CONCLUSIONS: Cytogenomic profile was concordant with the literature data, however the role of IGH rearrangement, 14q deletion and 5q35.2 gain need to be explored. We anticipate that further characterization of RT lesions will probably facilitate better understanding of the RT clonal evolution.

2.
Front Nutr ; 9: 958245, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36337641

RESUMEN

This study compared the vegetable intake of preschool children from three European countries [Italy, Poland, and the United Kingdom (UK)] and explored the parent, child, and environmental factors that predicted intake in each country. A total of 408 parents of preschoolers (Italy: N = 61, Poland: N = 124, and UK: N = 225; child mean age = 32.2 months, SD = 9.47) completed an online survey comprising a set of standardised questionnaires. For all three countries, the questionnaires included measures of children's vegetable intake (VegFFQ), child eating behaviour (CEBQ-FF), parents' mealtime goals (FMGs), and sociodemographic questions about family background and environment. In the UK and Italy, additional questionnaires were used to assess child temperament (EAS-T) and parents' feeding practices (CFPQ). The results showed that the number of child-sized portions of vegetables consumed per day varied significantly across countries; Polish children consumed the most (∼3 portions) and Italian children the least (∼1.5 portions). Between-country differences were seen in parents' goals for family mealtimes; compared to Italian parents, Polish and UK parents were more motivated to minimise mealtime stress, increase family involvement in meal preparation, and share the same foods with family members. British and Italian parents also adopted different feeding practices; parents in the UK reported more use of healthy modelling behaviours and more use of foods to support their child's emotion regulation. In terms of child factors, Italian children were reported to be more emotional and more sociable than British children. Analyses of the relationships between the parent, child, and environmental factors and children's vegetable intake revealed both similarities and differences between countries. Negative predictors of vegetable intake included child food fussiness in the UK and Poland, child temperament (especially, shyness) in Italy, and the use of food as a reward and child emotionality in the UK. Positive predictors included the parental mealtime goal of 'family involvement' in the UK. These results highlight differences in the extent to which European preschoolers achieve recommended levels of vegetable intake, and in the factors that influence whether they do. The results suggest a need to develop healthy eating interventions that are adopted to meet the specific needs of the countries in which they are implemented.

3.
PLoS One ; 17(2): e0263980, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35167621

RESUMEN

The occurrence of MYC-negative Burkitt lymphoma (BL) has been discussed for many years. The real frequency of the MYC insertion in MYC-negative BL is still unknown. Fine-needle aspiration biopsies of 108 consecutive patients with clinicopathologically suspected BL (suspBL) were evaluated by flow cytometry, classical cytogenetics, and fluorescence in situ hybridization (FISH). We found 12 cases (11%) without the MYC rearrangement by FISH with a MYC breakapart probe: two patients (1.9%) with cryptic MYC/IGH fusion (finally diagnosed as BL) and 10 patients (9.3%) with 11q gain/loss (finally diagnosed as Burkitt-like lymphoma with 11q aberration). The exact breakpoints of the cryptic MYC/IGH were investigated by next-generation sequencing. The MYC insertions' breakpoints were identified in PVT1 in the first case, and 42 kb upstream of 5'MYC in the second case. To date, a molecular characterization of the MYC insertion in BL has only been reported in one case. Detailed descriptions of our MYC insertions in a routinely and consecutively diagnosed suspBL cohort will contribute to resolving the issue of MYC negativity in BL. In our opinion, the presence of the MYC insertions in BL and other lymphomas might be underestimated, because routine genetic diagnostics are usually based on FISH only, without karyotyping.


Asunto(s)
Linfoma de Burkitt/patología , Cariotipificación/métodos , Mutagénesis Insercional , Proteínas Proto-Oncogénicas c-myc/genética , Análisis de Secuencia de ADN/métodos , Adulto , Anciano , Biopsia con Aguja Fina , Linfoma de Burkitt/genética , Niño , Preescolar , Puntos de Rotura del Cromosoma , Femenino , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Hibridación Fluorescente in Situ , Masculino , Persona de Mediana Edad , Adulto Joven
4.
JMIR Mhealth Uhealth ; 10(1): e30352, 2022 01 04.
Artículo en Inglés | MEDLINE | ID: mdl-34982718

RESUMEN

BACKGROUND: Early childhood education and care (ECEC) centers are ideal venues for food education. As smartphones and tablets are becoming increasingly popular in ECEC centers, technology can be used to deliver such pedagogical content. Evidence suggests that video games can affect fruit and vegetable (FV) consumption among 9- to 12-year-old children, but studies among preschoolers are scarce. OBJECTIVE: This paper describes the development of the Mole's Veggie Adventures app and its effectiveness in increasing FV acceptance among Finnish and Polish preschoolers aged 3 to 6 years. METHODS: A multiprofessional team created an app to be used in ECEC centers in groups of 3 to 10 children. The app aimed to increase vegetable acceptance, and it was built using elements that support the development of self-regulation and social skills. Altogether, 7 Finnish and 4 Polish ECEC centers participated in the study. Before randomization, parents reported background factors and their children's willingness to taste different FVs. The ECEC professionals in the intervention arm were instructed to use the app at least once a week during the 3- to 4-week intervention period. The main outcomes in this unblinded, cluster-randomized study were FV acceptance and relative FV acceptance. The first was calculated as a sum variable describing the children's willingness to taste 25 different FVs, the second as FV acceptance divided by the number of FVs served. We used analysis of covariance to compare the FV acceptance and relative FV acceptance scores between the intervention and control groups at follow-up. RESULTS: A total of 221 children were included in the analysis. At follow-up, the intervention group (115/221, 52%) had higher FV acceptance scores (baseline adjusted difference of mean 7.22; 95% CI 1.41-13.03) than the control group (106/221, 48%). The intervention effect was parallel for relative FV acceptance scores (baseline adjusted difference of mean 0.28; 95% CI 0.05-0.52). CONCLUSIONS: The Mole's Veggie Adventures app has the potential to increase FV acceptance among preschoolers and can be a valuable tool in supporting food education in ECEC centers. Furthermore, the app can be feasibly incorporated into preschool routines in countries with different educational environments. TRIAL REGISTRATION: ClinicalTrials.gov NCT05173311; https://tinyurl.com/4vfbh283.


Asunto(s)
Aplicaciones Móviles , Verduras , Niño , Preescolar , Finlandia , Frutas , Humanos , Polonia
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA