Educación, ejercicio terapéutico y terapia manual en el dolor orofacial. Estudio de casos / Education, therapeutic exercise, and manual therapy approaches in orofacial pain. Case reports

Introducción Los trastornos temporomandibulares son la causa más común de dolor crónico orofacial. Intervenciones pasivas como la terapia manual (TM) es de las herramientas más utilizadas. Sin embargo, este tipo de abordajes puede resultar insuficiente. La investigación de nuevas estrategias, ahora de naturaleza activa, como son el ejercicio o la educación, es necesaria para generar un cambio en la práctica clínica de los profesionales sanitarios y brindar una atención completa al paciente con dolor crónico. Objetivos Analizar el efecto de tres abordajes principales de forma combinada sobre el dolor, factores psicosociales, variables funcionales y biomecánicas. Métodos Se siguió un diseño de estudio de casos compuesto por tres sujetos divididos en tres modelos de intervención: educación para el dolor y terapia manual (PEdu+TM), ejercicio terapéutico y terapia manual (PEjerc+TM) y terapia manual cervical y orofacial (PTM). El periodo de intervención duró 3-4 semanas; las medidas fueron tomadas en tres momentos: preintervención, postintervención inmediata y 45 días postintervención. Dolor, características psicosociales y funcionalidad del paciente fueron evaluadas con diferentes herramientas validadas. Resultados Los resultados mostraron a corto plazo una mejora en todas las variables analizadas en el PEdu+TM y en el PEjerc+TM, pero no en el PTM. A medio plazo (45 días postintervención), el PEdu+TM mostró beneficios en todas las variables estudiadas mientras que el PEjerc+TM generó cambios positivos en las mismas variables excluyendo el dolor. Conclusión El tratamiento combinado podría ser una intervención más eficaz que la terapia manual a solas, siendo necesarios ensayos clínicos aleatorizados que corroboren dichos hallazgos (AU)

Introduction Temporomandibular disorders are the most common cause of chronic orofacial pain. Passive interventions such us manual therapy (MT) is being one of the most used tools. However, this type of approach may be insufficient. The investigation of new strategies, now of an active nature such as exercise or education, it is necessary to generate a change in the clinical practice of health professionals and provide comprehensive care to patients with chronic pain. Objectives To analyze the effect of three main approaches in combination on pain, psychosocial factors, functional and biomechanical variables. Methods A case study design was followed consisting of three subjects divided into three intervention models: pain education and manual therapy (PEdu+TM), therapeutic exercise and manual therapy (PExer+TM), and cervical and orofacial manual therapy (PTM). The intervention period lasted 3-4 weeks, the measurements were taken at three moments: pre-intervention, immediate post-intervention and 45 days post-intervention. Pain, psychosocial characteristics and functionality of the patient were evaluated with different validated tools. Results The results showed in the short-term an improvement in all the variables analyzed in the PEdu+TM and in the PExer+TM, but not in the PTM. In the medium term (45 days post-intervention), the PEdu+TM showed benefits in all the variables studied, while the PExer+TM generated positive changes in the same variables, excluding pain. Conclusion Combined treatment could be a more effective intervention than manual therapy alone, requiring randomized clinical trials to corroborate these findings (AU)

Current status of precision medicine in pediatric oncology in Spain: a consensus report by the Spanish Society of Paediatric Haematology and Oncology (SEHOP).

The study analyzes the current status of personalized medicine in pediatric oncology in Spain. It gathers national data on the tumor molecular studies and genomic sequencing carried out at diagnosis and at relapse, the centers that perform these studies, the technology used and the interpretation and clinical applicability of the results. Current challenges and future directions to achieve a coordinated national personalized medicine strategy in pediatric oncology are also discussed. Next generation sequencing-based (NGS) gene panels are the technology used in the majority of centers and financial limitations are the main reason for not incorporating these studies into routine care. Nowadays, the application of precision medicine in pediatric oncology is a reality in a great number of Spanish centers. However, its implementation is uneven and lacks standardization of protocols; therefore, national coordination to overcome the inequalities is required. Collaborative work within the Personalized Medicine Group of SEHOP is an adequate framework for encouraging a step forward in the effort to move precision medicine into the national healthcare system.

Distribution of segmental chromosomal alterations in neuroblastoma

Background Neuroblastoma (NB) is a heterogeneous tumor with extremely diverse prognosis according to clinical and genetic factors such as specific combinations of chromosomal imbalances. Methods Molecular karyotyping data from a national neuroblastic tumor database of 155 NB samples were analyzed and related to clinical data. Results Segmental chromosomal alterations (SCA) were detected in 102 NB, whereas 45 only displayed numerical alterations. Incidence of SCA was higher in stage M (92%) and MYCN amplified (MNA) NB (96%). Presence of SCA was associated with older age, especially 1q gain and 3p deletion. 96% of the deaths were observed in the SCA group and 85% of the relapsed NB contained SCA. The alteration most commonly associated with a higher number of other segmental rearrangements was 11q deletion, followed by 4p deletion. Whole-chromosome 19 gain was associated with lower stages, absence of SCA and better outcome. Conclusions SCA are not randomly distributed and are concentrated on recurrent chromosomes. The most frequently affected chromosomes identify prognostic factors in specific risk groups. SCA are associated with older age and MNA. We have identified a small subset of patients with better outcome that share whole-chromosome 19 numeric gain, suggesting its use as a prognostic biomarker in NB (AU)

Distribution of segmental chromosomal alterations in neuroblastoma.

BACKGROUND: Neuroblastoma (NB) is a heterogeneous tumor with extremely diverse prognosis according to clinical and genetic factors such as specific combinations of chromosomal imbalances. METHODS: Molecular karyotyping data from a national neuroblastic tumor database of 155 NB samples were analyzed and related to clinical data. RESULTS: Segmental chromosomal alterations (SCA) were detected in 102 NB, whereas 45 only displayed numerical alterations. Incidence of SCA was higher in stage M (92%) and MYCN amplified (MNA) NB (96%). Presence of SCA was associated with older age, especially 1q gain and 3p deletion. 96% of the deaths were observed in the SCA group and 85% of the relapsed NB contained SCA. The alteration most commonly associated with a higher number of other segmental rearrangements was 11q deletion, followed by 4p deletion. Whole-chromosome 19 gain was associated with lower stages, absence of SCA and better outcome. CONCLUSIONS: SCA are not randomly distributed and are concentrated on recurrent chromosomes. The most frequently affected chromosomes identify prognostic factors in specific risk groups. SCA are associated with older age and MNA. We have identified a small subset of patients with better outcome that share whole-chromosome 19 numeric gain, suggesting its use as a prognostic biomarker in NB.

Precision medicine in Ewing sarcoma: a translational point of view.

Ewing sarcoma is a rare tumor that arises in bones of children and teenagers but, in 15% of the patients it is presented as a primary soft tissue tumor. Balanced reciprocal chimeric translocation t(11;22)(q24;q12), which encodes an oncogenic protein fusion (EWSR1/FLI1), is the most generalized and characteristic molecular event. Using conventional treatments, (chemotherapy, surgery and radiotherapy) long-term overall survival rate is 30% for patients with disseminated disease and 65-75% for patients with localized tumors. Urgent new effective drug development is a challenge. This review summarizes the preclinical and clinical investigational knowledge about prognostic and targetable biomarkers in Ewing sarcoma, finally suggesting a workflow for precision medicine committees.

Li-Fraumeni syndrome heterogeneity.

Clinical variability is commonly seen in Li-Fraumeni syndrome. Phenotypic heterogeneity is present among different families affected by the same pathogenic variant in TP53 gene and among members of the same family. However, causes of this huge clinical spectrum have not been studied in depth. TP53 type mutation, polymorphic variants in TP53 gene or in TP53-related genes, copy number variations in particular regions, and/or epigenetic deregulation of TP53 expression might be responsible for clinical heterogeneity. In this review, recent advances in the understanding of genetic and epigenetic aspects influencing Li-Fraumeni phenotype are discussed.

Letter to the Editor: In the last CTO issue members of SEHOP SEAP and SEFH headed by Pilar Garrido

No disponible

Retinoblastoma: hacia un diagnóstico más precoz / Retinoblastoma: towards an earlier diagnosis

OBJETIVOS: El número de enucleaciones y secuelas visuales por retinoblastoma es elevado. El objetivo del estudio fue evaluar diferentes aspectos diagnósticos y plantear estrategias que ayuden a mejorar el manejo clínico del retinoblastoma. Método: Estudio retrospectivo de 38 pacientes con retinoblastoma estudiados genéticamente (29 unilaterales, 9 bilaterales). Se evaluaron la edad de inicio, los signos clínicos y el tiempo de evolución, el número de enucleaciones, el momento de realización y la supervivencia a 5 años. Resultados: La leucocoria fue el signo clínico fundamental (presente en el 90% de los casos). El retraso diagnóstico medio fue de 3,2 meses. Entre los casos unilaterales se enuclearon el 76% de los ojos y en las formas bilaterales el 55%. Solo se encontró un fallecimiento entre los 25 pacientes seguidos durante al menos 5 años. Conclusiones: Las estrategias de diagnóstico y tratamiento del retinoblastoma necesitan ser actualizadas. Para ello, una buena coordinación entre pediatras y oftalmólogos es esencial. El manejo en centros de referencia, que dispongan de la tecnología y experiencia necesarias, debería contribuir a aumentar la tasa de preservación de órganos

OBJETIVOS: The number of enucleations and visual sequels due to retinoblastoma is high. The aim of this study was to evaluate the different diagnostic aspects and propose strategies that might improve the clinical management of this condition. Method: A retrospective study was conducted on 38 patients with retinoblastoma studied genetically (29 unilateral, 9 bilateral). The evaluation included: age of onset, clinical signs, and time since onset, number of enucleations, time to diagnosis, and survival at 5 years. Results: Leukocoria was the main clinical sign (present in 90% of cases). The mean diagnostic delay was 3.2 months. Among the unilateral cases, the eyes were enucleated in 76%, and 55% in the bilateral forms. Only one death was found among the 25 patients followed-up for at least 5 years. Conclusions: Retinoblastoma diagnostic and treatment strategies need to be updated. Good coordination between paediatricians and ophthalmologists is essential for this. Its management in reference centres, which have the necessary technology and experience, should contribute to increase the rate of organ preservation

Retinoblastoma: towards an earlier diagnosis. / Retinoblastoma: hacia un diagnóstico más precoz.

OBJECTIVES: The number of enucleations and visual sequels due to retinoblastoma is high. The aim of this study was to evaluate the different diagnostic aspects and propose strategies that might improve the clinical management of this condition. METHOD: A retrospective study was conducted on 38 patients with retinoblastoma studied genetically (29 unilateral, 9 bilateral). The evaluation included: age of onset, clinical signs, and time since onset, number of enucleations, time to diagnosis, and survival at 5 years. RESULTS: Leukocoria was the main clinical sign (present in 90% of cases). The mean diagnostic delay was 3.2 months. Among the unilateral cases, the eyes were enucleated in 76%, and 55% in the bilateral forms. Only one death was found among the 25 patients followed-up for at least 5 years. CONCLUSIONS: Retinoblastoma diagnostic and treatment strategies need to be updated. Good coordination between paediatricians and ophthalmologists is essential for this. Its management in reference centres, which have the necessary technology and experience, should contribute to increase the rate of organ preservation.

[Assessment of behavioral dependence with the Glover-Nilsson test in smoking cessation treatment]. / Evaluación de la dependencia psicológica mediante el test de Glover-Nilsson en el tratamiento del tabaquismo.

OBJECTIVE: To assess behavioral dependence using the Glover-Nilsson test and determine its association with successful smoking cessation. MATERIAL AND METHODS: An analytical longitudinal study was carried out, the target population of which consisted of smokers who enrolled in a smoking cessation clinic for treatment. The following variables were examined: age, sex, nicotine dependence (Fagerström test), psychoactive drug use, prior attempts at quitting, and behavioral dependence measured with the Glover-Nilsson test. The most recent version of this test is an 11-item questionnaire which classifies behavioral dependence according to the scores obtained: mild (<12), moderate (12-22), severe (23-33), and very severe (>33). Successful cessation was defined as self-reported abstinence confirmed by measurement of expired CO level (< or =10 ppm). Results were expressed as means (SD) for quantitative variables and percentages and absolute frequencies for qualitative variables. RESULTS: The study population consisted of 167 smokers--89 men (53.3%) and 78 women (46.7%)--with a mean age of 43.5 (9.9) years, a nicotine dependence score (Fagerström test) of 6.5 (2.2) points, and a Glover-Nilsson score of 23.3 (6.6). Of the study population, 65.9% (n=110) had made previous attempts at quitting. Abstinence at 3 months was 55.1% (n=92). Differences between the sexes were found for age and previous attempts at quitting. Younger patients had higher scores on the Glover-Nilsson test and the Fagerström test and lower abstinence rates. CONCLUSIONS: Severe behavioral dependence can result in less successful cessation outcome. All aspects related to dependence must be assessed to help select the most adequate pharmacological and psychological treatment for results to be optimized.

Evaluación de la dependencia psicológica mediante el test de Glover-Nilsson en el tratamiento del tabaquismo / Assessment of behavioral dependence with the glover-nilsson test in smoking cessation treatment

Objetivo: Evaluar la dependencia psicológica mediante el test de Glover-Nilsson y establecer su relación con el éxito al finalizar el tratamiento. Material y métodos: Se ha realizado un estudio analítico longitudinal, cuya población objetivo han sido los fumadores que accedieron a una unidad de tabaquismo para deshabituación tabáquica. Se estudiaron las siguientes variables: edad, sexo, dependencia a la nicotina (test de Fagerström), consumo de psicofármacos, intentos previos de cesación y dependencia psicológica mediante el test de Glover-Nilsson. Este cuestionario, en su versión más reciente, consta de 11 ítems y clasifica la dependencia psicológica, según la puntuación obtenida, en leve ( 33). Se consideró éxito la abstinencia autodeclarada confirmada con cooximetría (monóxido de carbono ≤ 10 ppm). Los resultados se expresan como medias ± desviación estándar (variables cuantitativas) y como proporciones y frecuencias absolutas (variables cualitativas). Resultados: La población de estudio estaba compuesta por 167 fumadores --89 varones (53,3%) y 78 mujeres (46,7%)--, con una edad media de 43,5 ± 9,9 años, dependencia a la nicotina (test de Fagerström) de 6,5 ± 2,2 puntos y media en el test de Glover-Nilsson de 23,3 ± 6,6 puntos. El 65,9% (n = 110) había hecho intentos previos para dejar de fumar. El éxito a los 3 meses fue del 55,1% (n = 92). Según el sexo, se observaron diferencias en la edad y en la existencia de intentos previos. Los individuos más jóvenes obtuvieron mayor puntuación en el test de Glover-Nilsson y en el test de Fagerström y presentaron una menor tasa de éxito. Conclusiones: La elevada dependencia psicológica puede condicionar peores resultados en el éxito de la deshabituación. Es necesario valorar todos los aspectos relacionados con la dependencia, ya que puede ayudar a seleccionar el tratamiento farmacológico y psicológico más adecuado para optimizar los resultados

Objective: To assess behavioral dependence using the Glover-Nilsson test and determine its association with successful smoking cessation. Material and Methods: An analytical longitudinal study was carried out, the target population of which consisted of smokers who enrolled in a smoking cessation clinic for treatment. The following variables were examined: age, sex, nicotine dependence (Fagerström test), psychoactive drug use, prior attempts at quitting, and behavioral dependence measured with the Glover-Nilsson test. The most recent version of this test is an 11-item questionnaire which classifies behavioral dependence according to the scores obtained: mild (33). Successful cessation was defined as self-reported abstinence confirmed by measurement of expired CO level (≤10 ppm). Results were expressed as means (SD) for quantitative variables and percentages and absolute frequencies for qualitative variables. Results: The study population consisted of 167 smokers --89 men (53.3%) and 78 women (46.7%)--with a mean age of 43.5 (9.9) years, a nicotine dependence score (Fagerström test) of 6.5 (2.2) points, and a Glover-Nilsson score of 23.3 (6.6). Of the study population, 65.9% (n=110) had made previous attempts at quitting. Abstinence at 3 months was 55.1% (n=92). Differences between the sexes were found for age and previous attempts at quitting. Younger patients had higher scores on the Glover-Nilsson test and the Fagerström test and lower abstinence rates. Conclusions: Severe behavioral dependence can result in less successful cessation outcome. All aspects related to dependence must be assessed to help select the most adequate pharmacological and psychological treatment for results to be optimized

[Predictors of success at 6-month follow-up for smokers treated at a smoking cessation clinic]. / Factores predictores de éxito a los 6 meses en fumadores tratados en una unidad de tabaquismo.

OBJECTIVE: To identify the predictors of successful outcome in a smoking cessation program at 6-month follow-up. MATERIAL AND METHODS: Cross-sectional descriptive study of a sample of smokers who attended a smoking cessation clinic for combined medical and cognitive-behavioral group therapy. The independent variables assessed included age, sex, level of education, nicotine dependence (Fagerström test), prior attempts to quit smoking, medication prescribed, compliance with group therapy regimen, and success at one week and 3 months. Success was defined as self-reported abstinence, confirmed by CO-oximetry (carbon monoxide <10 ppm). Odds ratios (with 95% confidence intervals) were calculated for the categorical variables and a test of statistical significance of differences between means was performed for quantitative variables. Univariate logistic regression analysis was performed and significant variables were entered into a multivariate logistic regression model. RESULTS: The study population comprised 248 individuals, 67.7% male and 32.3% female, with a mean (SD) age of 43.1 (10.5) years. The mean score on the Fagerström test was 6.3 (2.1) points and 84.7% of the individuals complied with the treatment regimen. Success rates were as follows: 77% at one week, 30.2% at 3 months, and 31.9% at 6 months. Three variables--success at 3 months, age, and nicotine dependence--were entered into the multivariate logistic regression model; the only variable predictive of successful smoking cessation at 6 months was success at 3 months. CONCLUSIONS: Individuals who fully comply with treatment and abstain from smoking during the first weeks are more likely to be successful at 6 months.

Factores predictores de éxito a los 6 meses en fumadores tratados en una unidad de tabaquismo / Predictors of success at 6-Month follow-up for smokers treated at a smoking cessation clinic

OBJETIVO: Analizar los factores predictores del éxito de un programa de deshabituación tabáquica a los 6 meses de seguimiento. MATERIAL Y MÉTODOS: Se ha realizado un estudio analítico transversal en una muestra formada por fumadores que habían accedido a una unidad de tabaquismo para tratamiento multicomponente en grupo. Las variables independientes analizadas fueron: edad, sexo, nivel de estudios, dependencia la nicotina (test de Fagerström), intentos previos, fármaco prescrito, cumplimentación del tratamiento grupal, éxito a la semana y a los 3 meses. Se consideró éxito la abstinencia autodeclarada y confirmada mediante cooximetría (monóxido de carbono < 10 ppm).Se aplicó un análisis de regresión logística univariante, determinando las odds ratios con los intervalos de confianza del 95 por ciento para las variables categóricas, y el test de diferencia de medias para las variables cuantitativas; aquellas que mostraron significación estadística se introdujeron en un modelo de regresión logística multivariante. RESULTADOS: La población de estudio estaba compuesta por 248 individuos, el 67,7 por ciento varones y el 32,3 por ciento mujeres, con un media (ñ desviación estándar) de edad de 43,1 ñ 10,5 años. En cuanto a la dependencia de la nicotina, la puntuación media en el test de Fagerström era de 6,3 ñ 2,1 puntos, y el 84,7 por ciento de los individuos cumplió bien el tratamiento. Las tasas de éxito fueron del 77, el 30,2 y el 31,9 por ciento a la semana y a los 3 y 6 meses, respectivamente. Las variables: éxito a los 3 meses, edad y dependencia de la nicotina se introdujeron en el modelo de regresión logística multivariante, y la única variable predictora de éxito a los seis meses fue la primera. CONCLUSIONES: Los individuos que cumplen bien el tratamiento y no fuman nada durante las primeras semanas tienen más probabilidades de lograr el éxito a los 6 meses (AU)

Estabilización quirúrgica de la base de la lengua en el síndrome de apnea obstructiva del sueño. Nuestra experiencia / Surgical tongue-base suspension for obstructive sleep apnea syndrome. Our experience

Muchas son las técnicas quirúrgicas utilizadas en el síndrome de la apnea obstructiva del sueño. El tratamiento quirúrgico sobre la base de la lengua y la hipofaringe incluye técnicas como la glosectomía, la tirohioidopexia, la osteotomía mandibular de avance de los tubérculos geni o el avance mandibular; todas ellas técnicas con mucha morbilidad. En el presente estudio se evalúa la efectividad de un tratamiento mínimamente invasivo: la estabilización quirúrgica de la base de la lengua. Doce pacientes varones con S.A.O.S. fueron seleccionados mediante examen físico, cefalometría y fibrolaringoscopia, e intervenidos quirúrgicamente. Los resultados preliminares muestran la eficacia de esta nueva técnica quirúrgica (AU)

There are a lot of techniques involves to surgical treatment of the Obstructive Sleep Apnea Syndrome. Surgical treatments of tongue-base and hypopharyngeal colapse include glossectomy, hyoid suspension, mandibular osteotomy with genioglossal advancement and maxillay-mandibular advancement. Many or these procedures are associated with extreme morbidity. In this paper is evaluated the effectiveness of a minimally invasive technique for tongue-base suspension. The procedure was performed in 12 male patients whit O.S.A.S. that were evaluated with cefalometric and fiberoptic analysis. These preliminary results show the initial efficacy of this new surgical procedure (AU)

[Multi-level treatment for obstructive sleep apnea syndrome: comparative study of four different surgical techniques of palate]. / Tratamiento multinivel en el síndrome de apnea obstructiva del sueño: estudio comparativo de cuatro técnicas quirúrgicas del paladar.

Palatopharyngeal surgery is a therapeutic option for Obstructive Sleep Apnea Syndrome. This surgery is based on the assumption that the soft palate is the principal apneogenic area of the upper airway. We report a comparison of four techniques of palatopharyneal surgery. In the other hand, the effectiveness of palatopharyngeal surgery for correcting other obstructions when present, was also evaluated.

Tratamiento multinivel en el síndrome de apnea obstructiva del sueño: estudio comparativo de cuatro técnicas quirúrgicas del paladar / Multilevel treatment for obstructive sleep apnea syndrome: comparative study of four different surgical techniques of palate

La cirugía del paladar se considera una buena opción terapéutica en el tratamiento quirúrgico del Síndrome de Apnea Obstructiva del Sueño (SAOS) porque la región velofaríngea ha demostrado ser la más apneogénica de la vía aérea superior. Presentamos una comparación de cuatro técnicas de cirugía del paladar en el SAOS. Por otro lado, en el presente trabajo evaluamos la efectividad del tratamiento multinivel, actuando sobre el paladar y sobre toda área de colapso existente en la vía aérea. (AU)

Palatopharyngeal surgery is a therapeutic option for Obstructive Sleep Apnea Syndrome. This surgery is based on the assumption that the soft palate is the principal apneogenic area of the upper airway. We report a comparison of four techniques of palatopharyneal surgery. In the other hand, the effectiveness of palatopharyngeal surgery for correcting other obstructions when present, was also evaluated (AU)

[Surgical tongue-base suspension for obstructive sleep apnea syndrome. Our experience]. / Estabilización quirúrgica de la base de la lengua en el síndrome de apnea obstructiva del sueño. Nuestra experiencia.

There are a lot of techniques involves to surgical treatment of the Obstructive Sleep Apnea Syndrome. Surgical treatments of tongue-base and hypopharyngeal colapse include glossectomy, hyoid suspension, mandibular osteotomy with genioglossal advancement and maxillay-mandibular advancement. Many or these procedures are associated with extreme morbidity. In this paper is evaluated the effectiveness of a minimally invasive technique for tongue-base suspension. The procedure was performed in 12 male patients whit O.S.A.S. that were evaluated with cefalometric and fiberoptic analysis. These preliminary results show the initial efficacy of this new surgical procedure.

Cryptic t(4;11) encoding MLL-AF4 due to insertion of 5' MLL sequences in chromosome 4.

The t(4;11) translocation is the cytogenetic hallmark of a subset of acute lymphoblastic leukemias characterized by pro-B immunophenotype and a dismal prognosis. This translocation fuses the MLL gene on chromosome band 11q23 and the AF4 gene on 4q21, resulting in the expression of fusion transcripts from both translocated chromosomes. The MLL-AF4 chimeric transcript is thought to mediate the leukemic transformation. The MLL genomic disruption detected by Southern blot and the RT-PCR for the MLL-AF4 chimeric transcript expression are molecular evidence of this chromosomal translocation. However, similar molecular rearrangements have also been identified in cases without the cytogenetic t(4;11). We report a 30-year-old patient with high risk ALL, a normal karyotype, and molecular evidence of MLL-AF4 fusion. Using a double color FISH assay with MLL specific PAC probes, a cryptic t(4;11) due to insertion of 5' MLL sequences in chromosome 4q21 was demonstrated. Consequently the MLL-AF4 was encoded by der(4). This insertion mechanism precludes the genomic recombination of AF4-MLL and supports the crucial role played by MLL-AF4 in leukemogenesis. The findings of our case, along with others, show the importance of complementing the karyotype with molecular and FISH techniques.

[Antisense oligonucleotides increase the apoptotic effect of idarubicin in K-562 cell line]. / Los oligonucleotidos antisense potencian la apoptosis inducida por la idarubicina en la linea celular K-562.

The cell line K-562, which carries bcr/abl rearrangement of type b3a2 is resistant to apoptosis induced by topoisomerase II inhibitors. K-562 cells were treated with complexes of cationic liposomes (DMRIE-DOPE and Dcchol-DOPE) and antisense oligonucleotides (AS-ODNs) directed against the b3a2 type of bcr/abl mRNA and non sense oligonucleotides (NS-ODNs), in a 3:1 lipid/DNA ratio during 72 hours, then they were incubated for a further 24 hours with idarubicin (IDA), 0.5 microgram/ml, to induce apoptosis. It was evaluated by morphology to the microscope of fluorescence. Cells treated with the complexes DMRIE-DOPE and Dcchol/DOPE with the specific AS-ODN showed a higher apoptosis percentage induced by IDA (mean +/- SD: 14.74 +/- 2.07 and 20.43 +/- 4.58, respectively) compared with controls not treated with ODNs (mean +/- SD: 8.08 +/- 0.82); (p < 0.05). These data indicate that the AS-ODNs directed against the b3a2 type of bcr-abl mRNA renders the cell line K-562 sensitive to IDA at the mentioned concentration.