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1.
EClinicalMedicine ; 68: 102427, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38318124

ABSTRACT

Background: There is a need for more sustainable interventions and for assessing the effectiveness of school-based universal anti-bullying programmes in vulnerable populations. We assessed the efficacy of a multicomponent, web-enabled, school-based intervention that aims to improve school climate and reduce bullying (LINKlusive) relative to conventional practices (control condition). Methods: We conducted a cluster randomised controlled trial in primary and secondary schools in Madrid, Spain. The primary outcome measure was peer-reported bullying victimisation after the 12-week intervention (study endpoint). We analysed data using longitudinal mixed-effects models. The trial was registered with the ISRCTN registry (15719015). Findings: We included 20 schools (10 in each group); 6542 students participated at baseline; 6403 were assessed at study endpoint. After the intervention, there was a statistically significant reduction in bullying victimisation in both the intervention (OR 0.61, 95% CI [0.41, 0.90]) and control groups (OR 0.69, 95% CI [0.51, 0.92]), with no evidence of differences in the whole sample (OR 0.89, 95% CI [0.58, 1.36]; aOR 0.89, 95% CI [0.58, 1.37]). Subgroup analyses showed a statistically significant effect of LINKlusive on bullying victimisation in primary education (aOR 0.68, 95% CI [0.47, 0.98]). In students with peer-reported bullying victimisation at baseline, LINKlusive showed a statistically significant effect on depression (-1.43, 95% CI [-2.46, -0.40], adjusted standardised mean difference (SMD) -0.41) and quality of life (2.18, 95% CI [0.80, 3.56], adjusted SMD 0.45). Interpretation: LINKlusive could be effective in reducing bullying victimisation in primary school students. Sustainable whole-school interventions to promote mental health and reduce risk factors are warranted to improve outcomes in young people, especially in the early years of education. Funding: Instituto de Salud Carlos III, Spanish Ministry of Science and Innovation.

2.
An. pediatr. (2003. Ed. impr.) ; 96(6): 485-491, jun. 2022. tab, ilus
Article in Spanish | IBECS | ID: ibc-206066

ABSTRACT

Introducción: Evaluar el impacto de la incorporación de la oxigenoterapia de alto flujo (OAF) en pacientes ingresados con bronquiolitis aguda en un hospital sin unidad de cuidados intensivos pediátricos (UCIP). Material y métodos: Estudio de cohortes con control histórico de bronquiolitis ingresadas en un hospital de segundo nivel, antes (2009-2012) y después (2015-2020) de la introducción de OAF. La medida principal de efecto fue necesidad de traslado a UCIP. Resultados: Se incluyeron 301 pacientes. En el 64,7% se identificó virus respiratorio sincitial y en el 0,3%, virus de la gripe. No se observaron diferencias en la edad ni en la comorbilidad entre períodos. La media de la estancia en planta fue de 3,67días (desviación estándar [DE]: 2,10) en la primera etapa y de 4,00 días (DE: 2,35) en la segunda etapa. Fueron trasladados a UCIP tres pacientes en el período 2009-2012 (2,6%) y 13 pacientes (9,4%) en el período 2015-2020, lo que supuso un importante aumento de riesgo (riesgo relativo 3,58; intervalo de confianza [IC] del 95%: 1,04 a 12,27), aunque no significativo en los análisis ajustados (odds ratio: 3,48; IC95%: 0,95 a 12,72).También se observó un aumento significativo de reingresos (del 5,3 al 13,7%) y un acortamiento del tiempo hasta el traslado. Conclusiones: La incorporación de la OAF en planta no se asoció a menor riesgo de traslado a UCIP ni a menor duración de la oxigenoterapia. En ausencia de evidencia que apoye la eficacia y eficiencia de la OAF y establezca sus indicaciones, debemos revaluar su uso. (AU)


Introduction: To estimate the impact of the incorporation of high-flow nasal cannule (HFNC) in patients admitted with acute bronchiolitis in a hospital without pediatric intensive care unit (PICU). Material and methods: Cohort study with historical control of bronchiolitis in a second-level hospital, before (2009-2012) and after (2015-2020) the implementation of HFNC. The main outcome was the need for admission to the PICU. Results: 301 patients were included. Respiratory syncytial viruses were identified in 64.7% of them and influenza viruses in 0.3%. No differences in age nor comorbility between periods were observed. The average stay was 3.67days (standard deviation [SE]: 2.10) in the first period and 4.00 days (SE: 2.35) in the second. Three patients were transferred to PICU (2.6%) before the availability of HFNC and 13 patients (9.4%) after, which supposed an important increase of the risk (relative risk 3.58; 95% confidence interval [CI]: 1.04 to 12.27), although not significant in adjusted analyses (odds ratio 3.48; 95%CI: 0.95 to 12.72). A significant increase in readmission risk was also observed (from 5.3% to 13.7%) and a shortening of the time to transfer. Conclusions: The incorporation of HFNC was not associated with a lower risk of transfer to PICU nor a shorter length of oxygen therapy. In the absence of evidence, that supports the effectiveness and efficiency of the HFNC and establishes its indications, we must reassess its use.


Subject(s)
Humans , Infant , Health Sciences , Oxygen Inhalation Therapy , Bronchiolitis , Cohort Studies , Bronchiolitis/drug therapy , Bronchiolitis/diagnosis
3.
Front Pediatr ; 9: 628984, 2021.
Article in English | MEDLINE | ID: mdl-33981651

ABSTRACT

Introduction: Bullying is a major preventable risk factor for mental disorders. Available evidence suggests school-based interventions reduce bullying prevalence rates. This study aims to test the efficacy of a web-enabled, school-based, multicomponent anti-bullying intervention to prevent school bullying and to assess its effects on mental health and quality of life. Methods and analysis: Cluster randomized controlled trial conducted in 20 publicly funded primary and secondary schools in Madrid, Spain. Schools are randomly allocated to either the intervention arm (n = 10) or conventional practices arm (n = 10). The web-enabled intervention (LINKlusive) lasts ~12 weeks and consists of three main components: (i) an online training program for teachers and parents, (ii) a web-guided educational program for students, focusing on promoting respect for diversity, empathy, and social skill development, and (iii) a web-guided, teacher-delivered, targeted intervention program for bullying situations identified based on peer-support strategies and individual intervention for those involved (i.e., bullying victims and perpetrators). The primary objective is to compare differences between peer-reported bullying victimization in the intervention and control arms at the end of the intervention. Secondary outcome measures are additional measures of bullying victimization and perpetration, mental health symptoms, self-esteem, and quality of life. A follow-up assessment is conducted 1 year after the end of the intervention. Treatment effects will be tested using multilevel mixed models, adjusting for school-, classroom-, and student-related covariates. Considering the increased bullying rates in children with special educational needs, a specific subgroup analysis will test the efficacy of the intervention on bullying prevalence, mental health, and quality of life in this particularly vulnerable population. Ethics and Dissemination: The Deontology Commission of the School of Psychology, Universidad Complutense in Madrid, Spain reviewed the study protocol and granted ethical approval on 21st January 2019. The results of the trial will be disseminated in relevant peer-reviewed journals and at conferences in the field. Trial Registration Number: ISRCTN15719015.

4.
An. psicol ; 35(1): 1-10, ene. 2019. tab, graf
Article in English | IBECS | ID: ibc-181017

ABSTRACT

Peer relationships can be shaped as influential factors in the prevalence of bullying episodes. This research aims to analyze the effect of school bullying on the levels of depression of the victims and to what extent it is affected by social support and status in the group and by the profile of victimization. Several hierarchical linear regression analyses were calculated, in a sample of 1063 students aged 10 to 14 (47.8% of girls, M = 11.59 years, SD = 1.21 years), from 10 school of the Region of Madrid. The degree of influence of the studied variables was observed: lack of social support, peer rejection, withdrawal and impulsivity behaviors, and the relationship of all of them with victimization and depression. Findings revealed the influence of the lack of social support on the depression of victimized students. However, peer rejection did not show influence on the levels of depression of the victims. In addition, victimization associated with internalizing characteristics showed a greater association with depression than victimization associated with an externalizing profile


Las relaciones dentro del grupo de iguales pueden conformarse como factores influyentes en la prevalencia de los episodios de acoso escolar. Esta investigación tiene como objetivo analizar el efecto del acoso escolar sobre los niveles de depresión de las víctimas y en qué medida se ve afectado por el apoyo social, el estatus en el grupo y por el perfil de la victimización. Se calcularon varios modelos de regresión jerárquica lineal, en una muestra de 1063 alumnos, entre 10 y 14 años (47.8 % de chicas; M = 11.59 años, DT = 1.21 años), de 10 centros educativos de la Comunidad de Madrid. Se observó el grado de influencia de las variables estudiadas: falta de apoyo social, rechazo de los pares, conductas de retraimiento y de impulsividad, y la relación de todas ellas con la victimización y la depresión. Los resultados revelaron la influencia de la falta de apoyo social en los alumnos victimizados sobre la depresión. Sin embargo, el rechazo de los iguales no mostró influencia sobre los niveles de depresión de las víctimas. Además, las víctimas con características de tipo internalizante mostraron una mayor asociación con la depresión que las víctimas con características externalizantes


Subject(s)
Humans , Male , Female , Child , Adolescent , Bullying/psychology , Crime Victims/psychology , Depression/psychology , Social Support , Linear Models , Students/psychology , Child Behavior/psychology , Adolescent Behavior/psychology
5.
Rev. neurol. (Ed. impr.) ; 62(supl.1): s103-s107, 21 feb., 2016. graf, ilus
Article in Spanish | IBECS | ID: ibc-151035

ABSTRACT

Introducción. Los potenciales evocados N200 y P300 han demostrado ser una herramienta de gran utilidad en el seguimiento de niños con trastorno por déficit de atención (TDA). Objetivo. Evaluar el procesamiento cerebral de la información mediante los componentes N200 y P300 en modalidad táctil en niños con TDA. Sujetos y métodos. Se registraron los componentes N200 y P300 de los potenciales evocados durante una tarea oddball de estimulación táctil en un grupo experimental de 17 niños con TDA al principio y al final de un entrenamiento mediante estimulación táctil diaria, en otro de 12 niños con TDA y en 21 niños control sin TDA que no recibieron estimulación táctil. Los tres grupos tenían edades comprendidas entre 7 y 11 años. Resultados. Los resultados indican una disminución significativa de la latencia de las ondas N200 y P300 en el grupo experimental al final del estudio. Se encontraron diferencias significativas en la N200 en el grupo experimental en áreas temporales parietales y occipitales, mientras que, en la P300, las diferencias se localizan en áreas poscentrales y parietales. Conclusión. La estimulación táctil de manera sistemática, ordenada y organizada en niños con TDA puede ser efectiva para la mejora de la latencia de los potenciales evocados N200 y P300, así como para una mayor plasticidad cerebral parietal, asociada a la atención perceptiva (AU)


Introduction. The N200 and P300 evoked potentials have proved a useful tool in monitoring children with attention deficit disorder (ADD). Aim. To assess brain information processing by the N200 and P300 in touch modality in children with ADD. Subjects and methods. The P300 and N200 components to oddball tactile stimulation paradigm were recorded in an experimental group of 17 children with ADD at the beginning and the end of the daily training tactile stimulation, another 12 children with ADD and 21 control children without ADD who no received tactile stimulation. Three groups aged between 7 and 11 years. Results. Results show a significant decrease in latency of N200 and P300 waves in the experimental group at the study end. N200 significant differences in the experimental group temporal parietal and occipital areas were found, while the differences in the P300 are located in postcentral and parietal areas. Conclusion. Systematic, orderly and organized tactile stimulation in children with ADD can be effective to improve N200- P300 latencies providing greater parietal brain plasticity, associated to perceptive attention (AU)


Subject(s)
Humans , Male , Female , Child , Adolescent , Touch/physiology , Neuronal Plasticity/genetics , Neuronal Plasticity/physiology , Attention Deficit Disorder with Hyperactivity/diagnosis , Attention Deficit Disorder with Hyperactivity/epidemiology , Attention Deficit Disorder with Hyperactivity/therapy , Evoked Potentials/physiology , Electroencephalography/instrumentation , Electroencephalography/methods , Electroencephalography
6.
Hematol Oncol ; 34(2): 84-92, 2016 Jun.
Article in English | MEDLINE | ID: mdl-25689772

ABSTRACT

The prognosis of chronic lymphocytic leukemia (CLL) patients displaying trisomy 12 (+12) remains unclear. In this study, we analyzed the influence of the proportion of cells with +12, and other clinical and biologic factors, in time to first therapy (TTFT) and overall survival (OS), in 289 patients diagnosed with CLL carrying +12. Median OS was 129 months. One hundred seventy-four patients (60.2%) presented +12 in <60% of cells. TTFT and OS for this subgroup were longer than for the subgroup with +12 in ≥60% of cells, with a median TTFT of 49 months (CI95%, 39-58) vs 30 months (CI95%, 22-38) (P = 0.001); and a median OS of 159 months (CI95%, 119-182), vs 96 months (CI95%, 58-134) (P = 0.015). Other factors associated with a shorter TTFT were: Binet stage, B symptoms, lymphadenopathy, splenomegaly, high lymphocyte count, 11q-, high ß2 microglobulin, and high LDH. In the multivariate analysis, clinical stage, +12 in ≥60% of cells, high lymphocyte count, B symptoms, and 11q- in addition, resulted of significance in predicting shorter TTFT. Significant variables for OS were: Binet stage, lymphadenopathy, splenomegaly, high LDH, high ß2 microglobulin, 11q-, and CD38. In the multivariate analysis, only Binet stage, 11q-, and high ß2microglobulin significantly predicted shorter OS. CLL with +12 entails a heterogeneous group with intermediate prognosis. However, a high proportion of cells carrying +12 separates a subgroup of patients with poor outcome. Copyright © 2015 John Wiley & Sons, Ltd.


Subject(s)
Leukemia, Lymphocytic, Chronic, B-Cell/genetics , Leukemia, Lymphocytic, Chronic, B-Cell/mortality , Trisomy/genetics , Adult , Aged , Aged, 80 and over , Chromosomes, Human, Pair 12/genetics , Disease-Free Survival , Female , Humans , Leukemia, Lymphocytic, Chronic, B-Cell/blood , Leukemia, Lymphocytic, Chronic, B-Cell/therapy , Male , Middle Aged , Survival Rate
7.
PLoS One ; 10(11): e0143073, 2015.
Article in English | MEDLINE | ID: mdl-26630574

ABSTRACT

To analyze the impact of the 11q deleted (11q-) cells in CLL patients on the time to first therapy (TFT) and overall survival (OS), 2,493 patients with CLL were studied. 242 patients (9.7%) had 11q-. Fluorescence in situ hybridization (FISH) studies showed a threshold of 40% of deleted cells to be optimal for showing that clinical differences in terms of TFT and OS within 11q- CLLs. In patients with ≥40% of losses in 11q (11q-H) (74%), the median TFT was 19 months compared with 44 months in CLL patients with <40% del(11q) (11q-L) (P<0.0001). In the multivariate analysis, only the presence of 11q-L, mutated IGHV status, early Binet stage and absence of extended lymphadenopathy were associated with longer TFT. Patients with 11q-H had an OS of 90 months, while in the 11q-L group the OS was not reached (P = 0.008). The absence of splenomegaly (P = 0.02), low LDH (P = 0.018) or ß2M (P = 0.006), and the presence of 11q-L (P = 0.003) were associated with a longer OS. In addition, to detect the presence of mutations in the ATM, TP53, NOTCH1, SF3B1, MYD88, FBXW7, XPO1 and BIRC3 genes, a select cohort of CLL patients with losses in 11q was sequenced by next-generation sequencing of amplicons. Eighty % of CLLs with 11q- showed mutations and fewer patients with low frequencies of 11q- had mutations among genes examined (50% vs 94.1%, P = 0.023). In summary, CLL patients with <40% of 11q- had a long TFT and OS that could be associated with the presence of fewer mutated genes.


Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 11 , Leukemia, Lymphocytic, Chronic, B-Cell/diagnosis , Leukemia, Lymphocytic, Chronic, B-Cell/genetics , Mutation , Neoplasm Proteins/genetics , Adult , Aged , Aged, 80 and over , Female , Gene Expression , High-Throughput Nucleotide Sequencing , Humans , Immunoglobulin Heavy Chains/genetics , In Situ Hybridization, Fluorescence , Karyotype , Leukemia, Lymphocytic, Chronic, B-Cell/mortality , Leukemia, Lymphocytic, Chronic, B-Cell/pathology , Male , Middle Aged , Neoplasm Proteins/immunology , Prognosis , Retrospective Studies , Survival Analysis
8.
Leuk Lymphoma ; 56(11): 3183-8, 2015.
Article in English | MEDLINE | ID: mdl-25754580

ABSTRACT

Conventional G-banding cytogenetics (CC) detects chromosome 17 (chr17) abnormalities in 2% of patients with de novo myelodysplastic syndromes (MDS). We used CC and fluorescence in situ hybridization (FISH) (LSI p53/17p13.1) to assess deletion of 17p in 531 patients with de novo MDS from the Spanish Group of Hematological Cytogenetics. FISH detected - 17 or 17p abnormalities in 13 cases (2.6%) in whom no 17p abnormalities were revealed by CC: 0.9% of patients with a normal karyotype, 0% in non-informative cytogenetics, 50% of patients with a chr17 abnormality without loss of 17p and 4.7% of cases with an abnormal karyotype not involving chr17. Our results suggest that applying FISH of 17p13 to identify the number of copies of the TP53 gene could be beneficial in patients with a complex karyotype. We recommend using FISH of 17p13 in young patients with a normal karyotype or non-informative cytogenetics, and always in isolated del(17p).


Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 17 , In Situ Hybridization, Fluorescence , Myelodysplastic Syndromes/genetics , Tumor Suppressor Protein p53/genetics , Chromosome Banding , Humans
10.
Rev Neurol ; 58 Suppl 1: S25-30, 2014 Feb 24.
Article in Spanish | MEDLINE | ID: mdl-25252663

ABSTRACT

INTRODUCTION: Tactile stimulation is key for the posterior brain re-organization activity and attention processes, however the impact of tactile stimulation on attention deficit disorder (ADD) in blind children remains unexplored. SUBJECTS AND METHODS: We carried out a study with children having or not ADD (four per group). The subjects have been exposed during six months to tactile stimulation protocol consisting in two daily sessions (morning and afternoon sessions) of 30 minutes each. We have measured the ability to detect an infrequent tactile stimulus, reaction time, latency of P300, sources of brain activity, and ADD clinical symptoms, before and after tactile training. RESULTS: Passive tactile stimulation significantly improves ADD clinical symptoms, particularly attention, behavior and self-control of involuntary movements and tics. In addition, tactile stimulation changes the pattern of brain activity in ADD blind children inducing activity in frontal and occipital areas, which could be associated to a compensation of the attention deficit. CONCLUSION: Passive tactile stimulation training may improve ADD clinical symptoms and can reorganize the pattern of brain activity in blind ADD children.


TITLE: Estimulacion tactil pasiva y su repercusion clinica y neurofisiologica (P300) en niños ciegos con sintomatologia de trastorno por deficit de atencion.Introduccion. La estimulacion tactil es clave en la reorganizacion de la actividad cerebral y en los procesos de atencion, pero todavia no esta clara su eficacia en trastornos por deficit de atencion (TDA) en niños ciegos. Sujetos y metodos. Para valorar la eficacia de la estimulacion tactil realizamos un estudio en niños ciegos con TDA y sin TDA, consistente en un protocolo de estimulacion tactil diaria en dos sesiones (mañana y tarde), de media hora por sesion, durante seis meses. Se midio la capacidad para detectar un estimulo tactil infrecuente, el tiempo de reaccion, la latencia P300, las fuentes de actividad cerebral y la sintomatologia del TDA, tanto al inicio como al final del entrenamiento. Resultados. La estimulacion tactil en los niños ciegos con TDA mejora significativamente la sintomatologia del TDA, especialmente la atencion, la conducta y el autocontrol de los movimientos involuntarios y tics. Ademas, se observa que el entrenamiento tactil en niños ciegos con TDA cambia el patron de actividad cerebral induciendo una mayor actividad en las areas frontales y occipitales, que podrian estar asociadas a una compensacion del deficit de atencion. Conclusion. La estimulacion tactil pasiva diaria mejora la sintomatologia clinica y reorganiza la actividad cerebral en areas frontooccipitales de niños ciegos con TDA.


Subject(s)
Attention Deficit Disorder with Hyperactivity/therapy , Blindness/complications , Event-Related Potentials, P300/physiology , Neuroimaging/methods , Physical Stimulation , Touch , Attention Deficit Disorder with Hyperactivity/complications , Attention Deficit Disorder with Hyperactivity/physiopathology , Blindness/physiopathology , Child , Electroencephalography , Frontal Lobe/physiopathology , Hand , Humans , Imaging, Three-Dimensional , Occipital Lobe/physiopathology , Reaction Time , Symptom Assessment , Tomography , Touch/physiology
11.
Genes Chromosomes Cancer ; 53(9): 788-97, 2014 Sep.
Article in English | MEDLINE | ID: mdl-24915757

ABSTRACT

Deletion of 13q14 as the sole abnormality is a good prognostic marker in chronic lymphocytic leukemia (CLL). Nonetheless, the prognostic value of reciprocal 13q14 translocations [t(13q)] with related 13q losses has not been fully elucidated. We described clinical and biological characteristics of 25 CLL patients with t(13q), and compared with 62 patients carrying interstitial del(13q) by conventional G-banding cytogenetics (CGC) [i-del(13q)] and 295 patients with del(13q) only detected by fluorescence in situ hybridization (FISH) [F-del(13q)]. Besides from the CLL FISH panel (D13S319, CEP12, ATM, TP53), we studied RB1 deletions in all t(13q) cases and a representative group of i-del(13q) and F-del(13q). We analyzed NOTCH1, SF3B1, and MYD88 mutations in t(13q) cases by Sanger sequencing. In all, 25 distinct t(13q) were described. All these cases showed D13S319 deletion while 32% also lost RB1. The median percentage of 13q-deleted nuclei did not differ from i-del(13q) patients (73% vs. 64%), but both were significantly higher than F-del(13q) (52%, P < 0.001). Moreover, t(13q) patients showed an increased incidence of biallelic del(13q) (52% vs. 11.3% and 14.9%, P < 0.001) and higher rates of concomitant 17p deletion (37.5% vs. 8.6% and 7.2%, P < 0.001). RB1 involvement was significantly higher in the i-del(13q) group (79%, P < 0.001). Two t(13q) patients (11.8%) carried NOTCH1 mutations. Time to first treatment in t(13q) and i-del(13q) was shorter than F-del(13q) (67, 44, and 137 months, P = 0.029), and preserved significance in the multivariate analysis. In conclusion, t(13q) and del(13q) patients detected by CGC constitute a subgroup within the 13q-deleted CLL patients associated with a worse clinical outcome.


Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 13/genetics , Leukemia, Lymphocytic, Chronic, B-Cell/diagnosis , Translocation, Genetic , Adult , Aged , Aged, 80 and over , Chromosome Aberrations , Cohort Studies , Female , Humans , Karyotype , Leukemia, Lymphocytic, Chronic, B-Cell/genetics , Leukemia, Lymphocytic, Chronic, B-Cell/pathology , Male , Middle Aged , Myeloid Differentiation Factor 88/genetics , Phosphoproteins/genetics , Prognosis , RNA Splicing Factors , Receptor, Notch1/genetics , Retinoblastoma Protein/genetics , Ribonucleoprotein, U2 Small Nuclear/genetics
12.
Rev. neurol. (Ed. impr.) ; 58(supl.1): 25-30, 24 feb., 2014. ilus, graf
Article in Spanish | IBECS | ID: ibc-119458

ABSTRACT

Introducción. La estimulación táctil es clave en la reorganización de la actividad cerebral y en los procesos de atención, pero todavía no está clara su eficacia en trastornos por déficit de atención (TDA) en niños ciegos. Sujetos y métodos. Para valorar la eficacia de la estimulación táctil realizamos un estudio en niños ciegos con TDA y sin TDA, consistente en un protocolo de estimulación táctil diaria en dos sesiones (mañana y tarde), de media hora por sesión, durante seis meses. Se midió la capacidad para detectar un estímulo táctil infrecuente, el tiempo de reacción, la latencia P300, las fuentes de actividad cerebral y la sintomatología del TDA, tanto al inicio como al final del entrenamiento. Resultados. La estimulación táctil en los niños ciegos con TDA mejora significativamente la sintomatología del TDA, especialmente la atención, la conducta y el autocontrol de los movimientos involuntarios y tics. Además, se observa que el entrenamiento táctil en niños ciegos con TDA cambia el patrón de actividad cerebral induciendo una mayor actividad en las áreas frontales y occipitales, que podrían estar asociadas a una compensación del déficit de atención. Conclusión. La estimulación táctil pasiva diaria mejora la sintomatología clínica y reorganiza la actividad cerebral en áreas frontooccipitales de niños ciegos con TDA (AU)


Introduction. Tactile stimulation is key for the posterior brain re-organization activity and attention processes, however the impact of tactile stimulation on attention deficit disorder (ADD) in blind children remains unexplored. Subjects and methods. We carried out a study with children having or not ADD (four per group). The subjects have been exposed during six months to tactile stimulation protocol consisting in two daily sessions (morning and afternoon sessions) of 30 minutes each. We have measured the ability to detect an infrequent tactile stimulus, reaction time, latency of P300, sources of brain activity, and ADD clinical symptoms, before and after tactile training. Results. Passive tactile stimulation significantly improves ADD clinical symptoms, particularly attention, behavior and selfcontrol of involuntary movements and tics. In addition, tactile stimulation changes the pattern of brain activity in ADD blind children inducing activity in frontal and occipital areas, which could be associated to a compensation of the attention deficit. Conclusion. Passive tactile stimulation training may improve ADD clinical symptoms and can reorganize the pattern of brain activity in blind ADD children (AU)


Subject(s)
Humans , Male , Female , Child , Blindness/complications , Attention Deficit Disorder with Hyperactivity/physiopathology , Electric Stimulation Therapy , Frontal Lobe/physiopathology , Occipital Lobe/physiopathology , p300-CBP Transcription Factors/analysis
13.
Br J Haematol ; 163(1): 47-54, 2013 Oct.
Article in English | MEDLINE | ID: mdl-23869550

ABSTRACT

Losses in 13q as a sole abnormality confer a good prognosis in chronic lymphocytic leukaemia (CLL). Nevertheless, its heterogeneity has been demonstrated and the clinical significance of biallelic 13q deletions remains controversial. We compared the clinico-biological characteristics of a series of 627 patients harbouring isolated 13q deletions by fluorescence in situ hybridization (FISH), either monoallelic (13q × 1), biallelic (13q × 2), or the coexistence of both clones (13qM). The most frequent 13q deletion was 13q × 1 (82·1%), while 13q × 2 and 13qM represented 8·6% and 9·3% of patients respectively. The median percentage of altered nuclei significantly differed across groups: 55%, 72·5% and 80% in 13q × 1, 13q × 2 and 13qM (P < 0·001). However, no significant differences in the clinical outcome among 13q groups were found. From 84 patients with sequential FISH studies, eight patients lost the remaining allele of 13q whereas none of them changed from 13q × 2 to the 13q × 1 group. The percentage of abnormal cells detected by FISH had a significant impact on the five-year cumulative incidence of treatment and the overall survival, 90% being the highest predictive power cut-off. In conclusion, loss of the remaining 13q allele is not enough to entail a worse prognosis in CLL. The presence of isolated 13q deletion can be risk-stratified according to the percentage of altered cells.


Subject(s)
Alleles , Chromosome Deletion , Chromosomes, Human, Pair 13 , Leukemia, Lymphocytic, Chronic, B-Cell/genetics , Leukemia, Lymphocytic, Chronic, B-Cell/mortality , Adult , Aged , Aged, 80 and over , Chromosome Banding , Female , Humans , In Situ Hybridization, Fluorescence , Leukemia, Lymphocytic, Chronic, B-Cell/therapy , Male , Middle Aged , Prognosis , Retrospective Studies , Treatment Outcome
14.
Br J Haematol ; 162(1): 74-86, 2013 Jul.
Article in English | MEDLINE | ID: mdl-23614682

ABSTRACT

Lenalidomide is an effective drug in low-risk myelodysplastic syndromes (MDS) with isolated del(5q), although not all patients respond. Studies have suggested a role for TP53 mutations and karyotype complexity in disease progression and outcome. In order to assess the impact of complex karyotypes on treatment response and disease progression in 52 lenalidomide-treated patients with del(5q) MDS, conventional G-banding cytogenetics (CC), single nucleotide polymorphism array (SNP-A), and genomic sequencing methods were used. SNP-A analysis (with control sample, lymphocytes CD3+, in 30 cases) revealed 5q losses in all cases. Other recurrent abnormalities were infrequent and were not associated with lenalidomide responsiveness. Low karyotype complexity (by CC) and a high baseline platelet count (>280 × 10(9) /l) were associated with the achievement of haematological response (P = 0·020, P = 0·013 respectively). Unmutated TP53 status showed a tendency for haematological response (P = 0·061). Complete cytogenetic response was not observed in any of the mutated TP53 cases. By multivariate analysis, the most important predictor for lenalidomide treatment failure was a platelet count <280 × 10(9) /l (Odds Ratio = 6·17, P = 0·040). This study reveals the importance of a low baseline platelet count, karyotypic complexity and TP53 mutational status for response to lenalidomide treatment. It supports the molecular study of TP53 in MDS patients treated with lenalidomide.


Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 5 , Immunologic Factors/therapeutic use , Myelodysplastic Syndromes/drug therapy , Myelodysplastic Syndromes/genetics , Thalidomide/analogs & derivatives , Aged , Aged, 80 and over , Chromosome Banding , Disease Progression , Female , Humans , In Situ Hybridization, Fluorescence , Lenalidomide , Male , Middle Aged , Mutation , Myelodysplastic Syndromes/mortality , Polymorphism, Single Nucleotide , Thalidomide/therapeutic use , Treatment Outcome
15.
Rev Neurol ; 56 Suppl 1: S163-9, 2013 Feb 22.
Article in Spanish | MEDLINE | ID: mdl-23446719

ABSTRACT

Cortical reorganization after congenital blindness is not sufficiently known yet it does offer an optimum window of opportunity to study the effects of absolute sensorial deprivation. Cross-modality in people with blindness has been documented, but it may differ in congenital blindness and in early blindness. Vibrotactile passive stimulation of lines and letters generates different electroencephalographic patterns with different source localizations in two children with blindness, aged 9 and 10, respectively with congenital blindness and early blindness with some remnants of vision. Most of the brain electrical activity is centered in auditive areas in P50 and P100 in the case of the child with congenital blindness, while the other shows activity in multiple areas. Reaction times to letters are shorter than to lines of different orientation in both children.


Subject(s)
Blindness/congenital , Blindness/physiopathology , Brain/growth & development , Space Perception/physiology , Touch/physiology , Child , Female , Humans , Male , Pilot Projects
16.
Rev. neurol. (Ed. impr.) ; 56(supl.1): S163-S169, 22 feb., 2013. ilus, graf
Article in Spanish | IBECS | ID: ibc-111696

ABSTRACT

La reorganización cortical subyacente a la ceguera congénita no se conoce suficientemente, pero esta última ofrece una ventana óptima para el estudio de los efectos de la deprivación sensorial absoluta. Se sabe también que existe cross-modality en el cerebro de los invidentes, pero ésta difiere en niños con ceguera congénita y aquellos otros con restos de visión. La estimulación vibrotáctil pasiva de líneas y letras genera patrones electroencefalográficos y de localización de fuentes distintos en dos niños de 9 y 10 años, respectivamente, con ceguera congénita y ceguera con restos de visión. En la niña con ceguera congénita, la mayor actividad eléctrica cortical se centra en áreas auditivas en P50 y P100, mientras que en el niño invidente con restos de visión, la actividad se distribuye en múltiples áreas. Los tiempos de reacción a las letras son menores que a las líneas de diferente orientación en ambos niños (AU)


Cortical reorganization after congenital blindness is not sufficiently known yet it does offer an optimum window of opportunity to study the effects of absolute sensorial deprivation. Cross-modality in people with blindness has been documented, but it may differ in congenital blindness and in early blindness. Vibrotactile passive stimulation of lines and letters generates different electroencephalographic patterns with different source localizations in two children with blindness, aged 9 and 10, respectively with congenital blindness and early blindness with some remnants of vision. Most of the brain electrical activity is centered in auditive areas in P50 and P100 in the case of the child with congenital blindness, while the other shows activity in multiple areas. Reaction times to letters are shorter than to lines of different orientation in both children (AU)


Subject(s)
Humans , Male , Female , Child , Blindness/physiopathology , Space Perception/physiology , Mental Processes , Cerebral Cortex/physiology , Somatosensory Cortex/physiology , Somatosensory Disorders/diagnosis
17.
Leuk Res ; 37(4): 416-21, 2013 Apr.
Article in English | MEDLINE | ID: mdl-23337401

ABSTRACT

Chromosomal abnormalities are detected in 40-60% of patients with de novo myelodysplastic syndromes (MDS). This study used the FISH technique in 773 patients with de novo MDS without evidence of monosomy 7 (-7) or 7q deletion (7q-) by conventional G-banding cytogenetics (CC) to analyze their prognostic impact by FISH alone. FISH detected -7/7q- in 5.2% of patients. Presence of -7/7q- was associated with shorter overall survival than absence of such aberrations. Our results suggest that FISH 7q could be beneficial in patients with intermediate WHO morphologic risk stratification and no evidence of -7/7q- by CC.


Subject(s)
Chromosome Banding , Chromosomes, Human, Pair 7 , In Situ Hybridization, Fluorescence/methods , Monosomy , Myelodysplastic Syndromes/genetics , Chromosome Mapping , Humans , Prognosis
19.
Blood ; 119(22): 5221-8, 2012 May 31.
Article in English | MEDLINE | ID: mdl-22496165

ABSTRACT

Patients with essential thrombocythemia (ET) and polycythemia vera (PV) have an increased incidence of acute myeloid leukemia and new nonhematologic malignancies compared with the general population. However, information on the factors determining the risk for such complications is limited. In the present study, we investigated whether constitutional genetic variations in DNA repair predispose to leukemic transformation and new nonmyeloid neoplasias in patients with ET and PV. Case-control studies for predisposition to both types of malignancies were nested in a cohort of 422 subjects diagnosed with ET or PV during the period 1973-2010 in several institutions in Spain. A total of 64 incidence cases of leukemia and 50 cases of primary nonmyeloid cancers were accrued. At conditional regression analysis, the Gln/Gln genotype in the XPD codon 751 showed the strongest association with both leukemic transformation (odds ratio [OR] = 4.9; 95% confidence interval [95% CI], 2.0-12) and development of nonmyeloid malignancies (OR = 4.2; 95% CI, 1.5-12). Additional predictive factors were exposure to cytoreductive agents for leukemic transformation (OR = 3.5; 95% CI, 2.0-6.2) and age for nonmyeloid malignancies (OR = 2.0; 95% CI, 1.4-2.8). These findings provide further evidence about the contribution of inherited genetic variations to the pathogenesis and clinical course of myeloproliferative neoplasms.


Subject(s)
Leukemia/genetics , Polycythemia Vera/genetics , Polymorphism, Genetic , Thrombocythemia, Essential/genetics , Xeroderma Pigmentosum Group D Protein/genetics , Adolescent , Adult , Child , Child, Preschool , Female , Humans , Infant , Leukemia/epidemiology , Leukemia/metabolism , Male , Polycythemia Vera/epidemiology , Polycythemia Vera/metabolism , Retrospective Studies , Thrombocythemia, Essential/epidemiology , Thrombocythemia, Essential/metabolism , Xeroderma Pigmentosum Group D Protein/metabolism
20.
Leuk Res ; 36(2): 174-81, 2012 Feb.
Article in English | MEDLINE | ID: mdl-21724255

ABSTRACT

The function of the natural modulators of BCR-ABL-induced signaling pathways could influence the results to imatinib treatment. We assessed the association between single nucleotide polymorphisms (SNPs) on genes of the phosphatase family and the suppressors of cytokine signaling and the response to imatinib in 105 patients newly diagnosed with chronic-phase CML. SNPs in SOCS1 (rs243327) and PTPN22 (rs2476601) genes correlated with the risk of primary resistance to imatinib. A high-risk Sokal score, the T allele in PTPN22 SNP, and each copy of the C allele in SOCS1 SNP were adverse prognostic factors for failure-free survival (FFS). Based on such parameters, three risk groups were identified, with the 5-year FFS for each group being 95%, 75%, and 50%, respectively (P<0.001). A simple predictive model including Sokal score and genotype of SOCS1 and PTPN22 SNPs may be useful in the selection of the initial treatment in CML.


Subject(s)
Antineoplastic Agents/therapeutic use , Leukemia, Myeloid, Chronic-Phase/drug therapy , Leukemia, Myeloid, Chronic-Phase/genetics , Piperazines/therapeutic use , Polymorphism, Single Nucleotide/genetics , Protein Tyrosine Phosphatase, Non-Receptor Type 22/genetics , Pyrimidines/therapeutic use , Suppressor of Cytokine Signaling Proteins/genetics , Adolescent , Adult , Aged , Benzamides , Case-Control Studies , DNA/genetics , Female , Genotype , Humans , Imatinib Mesylate , Leukemia, Myeloid, Chronic-Phase/diagnosis , Male , Middle Aged , Prognosis , Real-Time Polymerase Chain Reaction , Suppressor of Cytokine Signaling 1 Protein , Young Adult
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