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2.
Encephale ; 47(6): 554-563, 2021 Dec.
Artigo em Francês | MEDLINE | ID: mdl-33814166

RESUMO

INTRODUCTION: Acceptance of the rape myths (ARM) refers to a set of attitudes, beliefs and stereotypes that tend to make women responsible for rapes or sexual assaults, and to rationalize, minimize or justify the behaviors of sexual offenders. ARM can also promote intimate partner violence (spousal rape). Domestic violence is generally associated with an insecure attachment style (avoidant or ambivalent) in both perpetrators and victims. The attachment insecurity of perpetrators of spousal violence can favor the use of violence against partners. The perpetrators also have a tendency to attribute the responsibility of their acts to their partners. Gerger, Kley, Bohner and Siebler (2007) developed the "Acceptance of Modern Myths about Sexual Aggression Scale" to measure the ARM in a more subtle way, in particular by reducing social desirability bias. The aim of this study is both to explore the psychometric qualities of the French version of the AMMSA and to study the relationships between the ARM, attachment styles and spousal violence in young adults and perpetrators of domestic violence (with the hypothesis that the latter have a greater ARM and a more insecure attachment style with the intimate partner). METHODS: Participants. The participants (n=275) were divided into two samples: sample 1 comprised 243 French psychology students and psychiatry residents, mean age 26.94years (±4.06years, range 19 to 38), with 79 % females (173 women and 50 men). The majority (69%) were in a relationship, and their level of study ranged from 13th grade to 19th grade; sample 2 comprised 32 men treated in a therapy center for perpetrators of spousal violence (in the "Centre-Val-de-Loire" region in France). They had a mean age of 40.84years (±11.06years, range 22 to 61). The majority (59%) was in a relationship and their level of study ranged from 5th grade to 18th grade (mean level=11). INSTRUMENTS: To measure the ARM Myths, we used the AMMSA, which is composed of 30 items structured into a single overarching factor. To assess the styles of attachment to the partner, we used the Experiences in Close Relationships (ECR) scale, which comprises 36 items structured in two dimensions: (i) attachment-related anxiety, and (ii) attachment-related avoidance in the couple. The tools were self-administered. Students completed the questionnaire via the Internet using the Sphinx software during an online survey. Clinical subjects completed the questionnaire in their therapy center. All participants were volunteers and gave their informed consent before anonymously completing the paper or online self-assessment questionnaire. RESULTS: We carried out a principal components factor analysis using Varimax rotation on the data obtained from the answers to the 30 items of the AMMSA of all respondents. The analysis identified a single factor with an eigenvalue of 9.04 and which explained more than 30% of the total variance. This factor saturated (>0.30) 29 of the 30 items of the AMMSA, and the Cronbach alpha (which assesses internal consistency) was 0.91. The comparison of AMMSA scores between the clinical group (men with a history of spousal abuse) and male and female students showed differences, while there were no significant gender differences in the non-clinical group. The mean level of insecurity of attachment to the partner was also higher for the men in the clinical group than those in the non-clinical group (students). Results found correlations between the ARM and ECR for attachment-related anxiety in the non-clinical group (both men and women), a weak and negative correlation between age and attachment-related anxiety, and a correlation between age and AMMSA only for women. DISCUSSION: The results concerning the qualities of the AMMSA are consistent with previous work. In addition, perpetrators of spousal violence have a stronger ARM. The links between (a) older age and a low level of education and (b) the ARM have already been highlighted. However, psychology students and psychiatry residents are probably more likely than others to develop pro-social, egalitarian, sensitive and tolerant attitudes, and therefore to be less in touch with rape myths. Both men and women have sexist representations and acceptance of the rape myths. The ARM is associated with common negative gender stereotypes, notably ambivalent sexism (with its two dimensions: hostile and benevolent sexism). This study has limitations linked both to the small clinical sample and the recruitment of non-clinical subjects from psychological and medical academic fields (with a specialty in psychiatry). Nonetheless, it is also one of the interests of this study to show that the ARM concerns everyone, including students, regardless of their academic or professional orientation. CONCLUSION: The AMMSA, which has been validated in different languages and in different contexts, has always shown good psychometric qualities. This French adaptation shows the same characteristics in terms of unifactorial structure, saturation of scale items and internal consistency. Further studies are needed to confirm external validity and test-retest reliability. It would also be desirable to conduct studies with larger and more representative samples. The AMMSA could be an excellent prevention tool by raising awareness of the continuing extent of negative gender stereotypes, violence against women and rape myths.


Assuntos
Violência Doméstica , Idioma , Adulto , Idoso , Agressão , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes , Estudantes , Adulto Jovem
3.
Int J Surg ; 82S: 44-51, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32353556

RESUMO

Dynamic preservation strategies are a promising option to improve graft quality before transplantation, and to extend preservation time for either logistic or treatment reasons. In contrast to normothermic oxygenated perfusion, which intends to mimic physiological conditions in the human body, with subsequent clinical application for up to 24 hrs, hypothermic perfusion is mainly used for a relatively short period with protection of mitochondria and subsequent reduction of oxidative injury upon implantation. The results from two randomized controlled trials, where recruitment has finished are expected this year. Both ex situ perfusion techniques are increasingly applied in clinical transplantation including recent reports on viability assessment, which could open the door for an increased liver utilization in the future.


Assuntos
Hipotermia Induzida/métodos , Transplante de Fígado , Preservação de Órgãos/métodos , Perfusão/métodos , Humanos , Fígado/fisiopatologia , Fígado/cirurgia , Transplantes/fisiopatologia , Transplantes/cirurgia , Resultado do Tratamento
5.
HPB (Oxford) ; 21(9): 1156-1165, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-30777695

RESUMO

BACKGROUND: The new UK-DCD-Risk-Score has been recently developed to predict graft loss in DCD liver transplantation. Donor-recipient combinations with a cumulative risk of >10 points were classified as futile and achieved an impaired one-year graft survival of <40%. The aim of this study was to show, if hypothermic oxygenated perfusion (HOPE) can rescue such extended DCD livers and improve outcomes. METHODS: "Futile"-classified donor-recipient combinations were selected from our HOPE-treated human DCD liver cohort (01/2012-5/2017), with a minimum follow-up of one year. Main risk factors, which contribute to the classification "futile" include: elderly donors>60years, prolonged functional donor warm ischemia time (fDWIT > 30min), long cold ischemia time>6hrs, donor BMI>25 kg/m2, advanced recipient age (>60years), MELD-score>25points and retransplantation status. Endpoints included all outcome measures during and after DCD LT. RESULTS: Twenty-one donor-recipient combinations were classified futile (median UK-DCD-Risk-Score:11 points). The median donor age and fDWIT were 62 years and 36 min, respectively. After cold storage, livers underwent routine HOPE-treatment for 120 min. All grafts showed immediate function. One-year and 5-year tumor death censored graft survival was 86%. CONCLUSION: HOPE-treatment achieved excellent outcomes, despite high-risk donor and recipient combinations. Such easy, endischemic perfusion approach may open the door for an increased utilization of futile DCD livers in other countries.


Assuntos
Temperatura Baixa , Sobrevivência de Enxerto , Transplante de Fígado , Preservação de Órgãos/métodos , Idoso , Feminino , Rejeição de Enxerto , Humanos , Masculino , Futilidade Médica , Pessoa de Meia-Idade , Oxigênio , Perfusão , Estudos Retrospectivos , Fatores de Risco , Transplante Homólogo
6.
Acta Paediatr ; 108(1): 88-93, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-29806710

RESUMO

AIM: To determine whether a decrease in patent ductus arteriosus (PDA) treatment or ligation in extremely preterm (EP) infants was associated with changes in rates of mortality and/or morbidities. METHODS: Observational study on EP infants admitted from 2008 to 2015. The small baby guidelines do not mandate ligation, however, in late 2010 the guidelines were amended based on new literature suggested that ligation may increase rates of morbidities. RESULTS: There were 717 EP infants admitted during the study period. There were no significant changes in gestational age, birthweight or annual admissions during the study period. The annual rate of PDA medical treatment declined significantly (R = 0.83, p = 0.01), while the annual rate of PDA ligation declined substantially (R = 0.88, p = 0.004). The annual mortality rate also declined significantly (R = 0.81, p = 0.014). The annual rates of bronchopulmonary dysplasia (BPD), necrotising enterocolitis and intraventricular haemorrhage did not change significantly. CONCLUSION: In this cohort of EP patients, the rate of PDA ligation decreased substantially since 2010, with no apparent adverse effects on mortality or rates of BPD. These data are consistent with the concept that ligation does not improve outcomes in EP infants.


Assuntos
Inibidores de Ciclo-Oxigenase/uso terapêutico , Permeabilidade do Canal Arterial/mortalidade , Permeabilidade do Canal Arterial/terapia , Mortalidade Hospitalar/tendências , Lactente Extremamente Prematuro , Ligadura/métodos , Estudos de Coortes , Tratamento Conservador/métodos , Tratamento Conservador/mortalidade , Bases de Dados Factuais , Permeabilidade do Canal Arterial/diagnóstico por imagem , Feminino , Seguimentos , Idade Gestacional , Humanos , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , Estimativa de Kaplan-Meier , Ligadura/mortalidade , Modelos Logísticos , Masculino , Padrões de Prática Médica , Prognóstico , Estudos Retrospectivos , Medição de Risco , Resultado do Tratamento
7.
Aliment Pharmacol Ther ; 48(3): 322-332, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29882252

RESUMO

BACKGROUND: Liver transplantation is the only life-extending intervention for primary sclerosing cholangitis (PSC). Given the co-existence with colitis, patients may also require colectomy; a factor potentially conferring improved post-transplant outcomes. AIM: To determine the impact of restorative surgery via ileal pouch-anal anastomosis (IPAA) vs retaining an end ileostomy on liver-related outcomes post-transplantation. METHODS: Graft survival was evaluated across a prospectively accrued transplant database, stratified according to colectomy status and type. RESULTS: Between 1990 and 2016, 240 individuals with PSC/colitis underwent transplantation (cumulative 1870 patient-years until first graft loss or last follow-up date), of whom 75 also required colectomy. A heightened incidence of graft loss was observed for the IPAA group vs those retaining an end ileostomy (2.8 vs 0.4 per 100 patient-years, log-rank P = 0.005), whereas rates between IPAA vs no colectomy groups were not significantly different (2.8 vs 1.7, P = 0.1). In addition, the ileostomy group experienced significantly lower graft loss rates vs. patients retaining an intact colon (P = 0.044). The risks conferred by IPAA persisted when taking into account timing of colectomy as related to liver transplantation via time-dependent Cox regression analysis. Hepatic artery thrombosis and biliary strictures were the principal aetiologies of graft loss overall. Incidence rates for both were not significantly different between IPAA and no colectomy groups (P = 0.092 and P = 0.358); however, end ileostomy appeared protective (P = 0.007 and 0.031, respectively). CONCLUSION: In PSC, liver transplantation, colectomy + IPAA is associated with similar incidence rates of hepatic artery thrombosis, recurrent biliary strictures and re-transplantation compared with no colectomy. Colectomy + end ileostomy confers more favourable graft outcomes.


Assuntos
Colangite Esclerosante/cirurgia , Sobrevivência de Enxerto , Transplante de Fígado , Proctocolectomia Restauradora , Adulto , Síndrome de Budd-Chiari/epidemiologia , Síndrome de Budd-Chiari/etiologia , Colangite Esclerosante/epidemiologia , Colangite Esclerosante/reabilitação , Colectomia/efeitos adversos , Colectomia/métodos , Colectomia/reabilitação , Colectomia/estatística & dados numéricos , Colite Ulcerativa/epidemiologia , Colite Ulcerativa/cirurgia , Constrição Patológica/epidemiologia , Constrição Patológica/etiologia , Feminino , Artéria Hepática/patologia , Humanos , Ileostomia/efeitos adversos , Ileostomia/métodos , Ileostomia/reabilitação , Ileostomia/estatística & dados numéricos , Incidência , Transplante de Fígado/reabilitação , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Proctocolectomia Restauradora/efeitos adversos , Proctocolectomia Restauradora/reabilitação , Proctocolectomia Restauradora/estatística & dados numéricos , Reoperação/estatística & dados numéricos , Estudos Retrospectivos , Trombose/epidemiologia , Trombose/etiologia , Resultado do Tratamento
10.
Leukemia ; 32(2): 273-284, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-28701730

RESUMO

Chromosomal rearrangements of the human MLL/KMT2A gene are associated with infant, pediatric, adult and therapy-induced acute leukemias. Here we present the data obtained from 2345 acute leukemia patients. Genomic breakpoints within the MLL gene and the involved translocation partner genes (TPGs) were determined and 11 novel TPGs were identified. Thus, a total of 135 different MLL rearrangements have been identified so far, of which 94 TPGs are now characterized at the molecular level. In all, 35 out of these 94 TPGs occur recurrently, but only 9 specific gene fusions account for more than 90% of all illegitimate recombinations of the MLL gene. We observed an age-dependent breakpoint shift with breakpoints localizing within MLL intron 11 associated with acute lymphoblastic leukemia and younger patients, while breakpoints in MLL intron 9 predominate in AML or older patients. The molecular characterization of MLL breakpoints suggests different etiologies in the different age groups and allows the correlation of functional domains of the MLL gene with clinical outcome. This study provides a comprehensive analysis of the MLL recombinome in acute leukemia and demonstrates that the establishment of patient-specific chromosomal fusion sites allows the design of specific PCR primers for minimal residual disease analyses for all patients.


Assuntos
Histona-Lisina N-Metiltransferase/genética , Leucemia Mieloide Aguda/genética , Proteína de Leucina Linfoide-Mieloide/genética , Adulto , Criança , Aberrações Cromossômicas , Quebra Cromossômica , Feminino , Rearranjo Gênico/genética , Humanos , Lactente , Masculino , Proteínas de Fusão Oncogênica/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Translocação Genética/genética
11.
Am J Transplant ; 17(4): 1050-1063, 2017 04.
Artigo em Inglês | MEDLINE | ID: mdl-27676319

RESUMO

Allocation of liver grafts triggers emotional debates, as those patients, not receiving an organ, are prone to death. We analyzed a high-Model of End-stage Liver Disease (MELD) cohort (laboratory MELD score ≥30, n = 100, median laboratory MELD score of 35; interquartile range 31-37) of liver transplant recipients at our center during the past 10 years and compared results with a low-MELD group, matched by propensity scoring for donor age, recipient age, and cold ischemia time. End points of our study were cumulative posttransplantation morbidity, cost, and survival. Six different prediction models, including donor age x recipient MELD (D-MELD), Difference between listing MELD and MELD at transplant (Delta MELD), donor-risk index (DRI), Survival Outcomes Following Liver Transplant (SOFT), balance-of-risk (BAR), and University of California Los Angeles-Futility Risk Score (UCLA-FRS), were applied in both cohorts to identify risk for poor outcome and high cost. All score models were compared with a clinical-oriented decision, based on the combination of hemofiltration plus ventilation. Median intensive care unit and hospital stays were 8 and 26 days, respectively, after liver transplantation of high-MELD patients, with a significantly increased morbidity compared with low-MELD patients (median comprehensive complication index 56 vs. 36 points [maximum points 100] and double cost [median US$179 631 vs. US$80 229]). Five-year survival, however, was only 8% less than that of low-MELD patients (70% vs. 78%). Most prediction scores showed disappointing low positive predictive values for posttransplantation mortality, such as mortality above thresholds, despite good specificity. The clinical observation of hemofiltration plus ventilation in high-MELD patients was even superior in this respect compared with D-MELD, DRI, Delta MELD, and UCLA-FRS but inferior to SOFT and BAR models. Of all models tested, only the BAR score was linearly associated with complications. In conclusion, the BAR score was most useful for risk classification in liver transplantation, based on expected posttransplantation mortality and morbidity. Difficult decisions to accept liver grafts in high-risk recipients may thus be guided by additional BAR score calculation, to increase the safe use of scarce organs.


Assuntos
Doença Hepática Terminal/cirurgia , Rejeição de Enxerto/mortalidade , Transplante de Fígado/efeitos adversos , Doadores Vivos , Complicações Pós-Operatórias/mortalidade , Índice de Gravidade de Doença , Adulto , Idoso , Feminino , Rejeição de Enxerto/etiologia , Rejeição de Enxerto/patologia , Sobrevivência de Enxerto , Humanos , Masculino , Pessoa de Meia-Idade , Medição de Risco , Fatores de Risco , Taxa de Sobrevida , Resultado do Tratamento
12.
Int J Obes (Lond) ; 40(10): 1515-1522, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-27457416

RESUMO

OBJECTIVE: Large portions of energy-dense foods drive energy intake but the brain mechanisms underlying this effect are not clear. Our main objective was to investigate brain function in response to food images varied by portion size (PS) and energy density (ED) in children using functional magnetic resonance imaging (fMRI). METHODS AND DESIGN: Blood-oxygen-level-dependent (BOLD) fMRI was completed in 36 children (ages 7-10 years) after a 2-h fast while viewing food images at two levels of PS (Large PS, Small PS) and two levels of ED (High ED, Low ED). Children rated perceived fullness pre- and post-fMRI, as well as liking of images on visual analog scales post-fMRI. Anthropometrics were completed 4 weeks before the fMRI. Large PS vs Small PS and High ED vs Low ED were compared with region-of-interest analyses using Brain Voyager v 2.8. RESULTS: Region-of-interest analyses revealed that activation in the right inferior frontal gyrus (P=0.03) was greater for Large PS vs Small PS. Activation was reduced for High ED vs Low ED in the left hypothalamus (P=0.03). Main effects were no longer significant after adjustment for pre-fMRI fullness and liking ratings (PS, P=0.92; ED, P=0.58). CONCLUSION: This is the first fMRI study to report increased activation to large portions in a brain region that is involved in inhibitory control. These findings may contribute to understanding why some children overeat when presented with large portions of palatable food.


Assuntos
Regulação do Apetite/fisiologia , Ingestão de Energia/fisiologia , Comportamento Alimentar/fisiologia , Preferências Alimentares/psicologia , Hipotálamo/fisiologia , Obesidade Infantil/fisiopatologia , Tamanho da Porção/psicologia , Mapeamento Encefálico , Criança , Comportamento de Escolha/fisiologia , Sinais (Psicologia) , Jejum , Feminino , Alimentos , Humanos , Imageamento por Ressonância Magnética , Masculino , Obesidade Infantil/prevenção & controle , Obesidade Infantil/psicologia , Percepção , Estimulação Luminosa , Estados Unidos
13.
J Nanobiotechnology ; 13: 49, 2015 Aug 08.
Artigo em Inglês | MEDLINE | ID: mdl-26253109

RESUMO

Recent studies report promising results regarding extracorporeal magnetic separation-based blood purification for the rapid and selective removal of disease-causing compounds from whole blood. High molecular weight compounds, bacteria and cells can be eliminated from blood within minutes, hence offering novel treatment strategies for the management of intoxications and blood stream infections. However, risks associated with incomplete particle separation and the biological consequences of particles entering circulation remain largely unclear. This article discusses the promising future of magnetic separation-based purification while keeping important safety considerations in mind.


Assuntos
Segurança do Sangue/métodos , Patógenos Transmitidos pelo Sangue/isolamento & purificação , Circulação Extracorpórea/métodos , Magnetismo/métodos , Nanopartículas de Magnetita/química , Animais , Humanos , Interleucinas/sangue , Interleucinas/isolamento & purificação , Preparações Farmacêuticas/sangue , Preparações Farmacêuticas/isolamento & purificação , Toxinas Biológicas/sangue , Toxinas Biológicas/isolamento & purificação
14.
Nanoscale ; 7(32): 13511-20, 2015 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-26201870

RESUMO

Sepsis is a severe medical condition and a leading cause of hospital mortality. Prompt diagnosis and early treatment has a significant, positive impact on patient outcome. However, sepsis is not always easy to diagnose, especially in critically ill patients. Here, we present a conceptionally new approach for the rapid diagnostic differentiation of sepsis from non-septic intensive care unit patients. Using advanced microscopy and spectroscopy techniques, we measure infection-specific changes in the activity of nano-sized cell-derived microvesicles to bind bacteria. We report on the use of a point-of-care-compatible microfluidic chip to measure microvesicle-bacteria aggregation and demonstrate rapid (≤1.5 hour) and reliable diagnostic differentiation of bacterial infection from non-infectious inflammation in a double-blind pilot study. Our study demonstrates the potential of microvesicle activities for sepsis diagnosis and introduces microvesicle-bacteria aggregation as a potentially useful parameter for making early clinical management decisions.


Assuntos
Bactérias/isolamento & purificação , Micropartículas Derivadas de Células/microbiologia , Sepse/diagnóstico , Síndrome de Resposta Inflamatória Sistêmica/diagnóstico , Animais , Agregação Celular , Diagnóstico Diferencial , Modelos Animais de Doenças , Humanos , Técnicas Analíticas Microfluídicas , Neutrófilos/microbiologia , Ratos , Sepse/sangue , Sepse/microbiologia , Síndrome de Resposta Inflamatória Sistêmica/sangue , Síndrome de Resposta Inflamatória Sistêmica/microbiologia
15.
Curr Transplant Rep ; 2(1): 52-62, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26097802

RESUMO

Dynamic preservation strategies such as hypothermic machine perfusion are increasingly discussed to improve liver graft quality before transplantation. This review summarizes current knowledge of this perfusion technique for liver preservation. We discuss optimization of perfusion conditions and current strategies to assess graft quality during cold perfusion. Next, we provide an overview of possible pathways of protection from ischemia-reperfusion injury. Finally, we report on recent clinical applications of human hypothermic machine liver perfusion.

17.
Klin Padiatr ; 226(6-7): 338-43, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25431866

RESUMO

BACKGROUND: Recently, the UK CCLG and COG reported that an intrachromosomal amplification of chromosome 21 (iAMP21) in acute lymphoblastic leukemia (ALL) loses its adverse prognostic impact with intensified therapy. PATIENT AND METHODS: We evaluated the prognosis of iAMP21 among patients from the ALL-BFM (Berlin-Frankfurt-Münster) 2000 trial with 46 of 2 637 (2%) patients iAMP21+. RESULTS: 8-year event-free-survival (EFS, 64 ± 8% vs. 81 ± 1%, p=0.0026) and cumulative incidence of relapse (CIR, 29 ± 8% vs. 14 ± 1%, p=0.008) of the iAMP21 cases were significantly worse compared with non-iAMP21 patients. Within the MRD low-risk group, iAMP21 cases (n=14) had an inferior 8-year EFS (76 ± 12% vs. 92 ± 1%, p=0.0081), but no increased CIR (10 ± 10% vs. 6 ± 1%, p=0.624). Within the MRD intermediate-risk group, iAMP21 cases (n=27) had a worse 8-year EFS (56 ± 11% vs. 78 ± 2%, p=0.0077) and CIR (44 ± 11% vs. 20 ± 2%, p=0.003) with 6/10 relapses occurring after 2 years. CONCLUSIONS: Conclusively, we believe that there is no necessity for enrolling all iAMP21 patients into the high-risk arm of ongoing ALL-BFM trials because MRD low-risk patients have a moderate relapse risk under current therapy. Whether the increased relapse risk in MRD intermediate-risk patients can be avoided by late treatment intensification remains to be answered by the AIEOP-BFM ALL 2009 trial randomly using protracted pegylated L-asparaginase during delayed intensification and early maintenance.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Cromossomos Humanos Par 21/genética , Amplificação de Genes/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras B/tratamento farmacológico , Leucemia-Linfoma Linfoblástico de Células Precursoras B/genética , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Subunidade alfa 2 de Fator de Ligação ao Core/genética , Intervalo Livre de Doença , Feminino , Seguimentos , Humanos , Masculino , Neoplasia Residual/tratamento farmacológico , Neoplasia Residual/genética , Neoplasia Residual/mortalidade , Leucemia-Linfoma Linfoblástico de Células Precursoras B/mortalidade , Proteínas Proto-Oncogênicas c-ets/genética , Recidiva , Proteínas Repressoras/genética , Variante 6 da Proteína do Fator de Translocação ETS
18.
Leukemia ; 28(5): 1015-21, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24166298

RESUMO

Intrachromosomal amplification of chromosome 21 (iAMP21) defines a distinct cytogenetic subgroup of childhood B-cell precursor acute lymphoblastic leukaemia (BCP-ALL). To date, fluorescence in situ hybridisation (FISH), with probes specific for the RUNX1 gene, provides the only reliable detection method (five or more RUNX1 signals per cell). Patients with iAMP21 are older (median age 9 years) with a low white cell count. Previously, we demonstrated a high relapse risk when these patients were treated as standard risk. Recent studies have shown improved outcome on intensive therapy. In view of these treatment implications, accurate identification is essential. Here we have studied the cytogenetics and outcome of 530 iAMP21 patients that highlighted the association of specific secondary chromosomal and genetic changes with iAMP21 to assist in diagnosis, including the gain of chromosome X, loss or deletion of chromosome 7, ETV6 and RB1 deletions. These iAMP21 patients when treated as high risk showed the same improved outcome as those in trial-based studies regardless of the backbone chemotherapy regimen given. This study reinforces the importance of intensified treatment to reduce the risk of relapse in iAMP21 patients. This now well-defined patient subgroup should be recognised by World Health Organisation (WHO) as a distinct entity of BCP-ALL.


Assuntos
Cromossomos Humanos Par 21 , Análise Citogenética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Adolescente , Adulto , Criança , Pré-Escolar , Subunidade alfa 2 de Fator de Ligação ao Core/genética , Feminino , Humanos , Hibridização in Situ Fluorescente , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Resultado do Tratamento , Adulto Jovem
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