[Positive blood cultured isolated bacteria in children under 90 days old admitted for fever in Hospital Exequiel González Cortés between 2014 and 2016]. / Bacterias aisladas en hemocultivos positivos en lactantes bajo 90 días de edad ingresados por fiebre al Hospital Exequiel González Cortés entre 2014 y 2016.

BACKGROUND: Fever in infants younger than 90 days may reflect a serious bacterial infection, so blood cultures (BC) are taken routinely and the patient is hospitalized. The observation time to detect occult bacteremia is not well established. AIM: To describe type and positivity time of isolated bacteria in blood cultures in infants under 90 days admitted for fever. METHODS: Retrospective, descriptive study. Positive blood cultures taken between 2014-2016 in young infants admitted for fever were included. Identification and time of positivity of each bacteria, clinical, laboratory and demographic data were recorded. Demographic variables and the clinical outcome was obtained. RESULTS: There were 172 positive blood cultures, only 51 met inclusion criteria. Of these, 21 microorganisms were pathogenic (Escherichia coli: 10, Streptococcus agalactiae: 3, Streptococcus pyogenes: 3, others: 5) and 30 were considered contamination, mainly coagulase negative Staphylococcus. In relation to the total sample, the median time of positivity was 10 hrs. At 24 hours of culture, bacterial growth was detected in 94% of the sample. CONCLUSION: The pathogenic bacteria isolated in the blood cultures of patients younger than 90 days who were admitted with fever correspond mainly to Gram negative bacilli and streptococci. All isolated pathogens were detected before 24 h of incubation.

Bacterias aisladas en hemocultivos positivos en lactantes bajo 90 días de edad ingresados por fiebre al Hospital Exequiel González Cortés entre 2014 y 2016 / Positive blood cultured isolated bacteria in children under 90 days old admitted for fever in Hospital Exequiel González Cortés between 2014 and 2016

INTRODUCCIÓN: En neonatos y lactantes bajo 90 días de vida la fiebre constituye un signo clínico relevante ya que puede corresponder a una infección bacteriana grave, por lo que se toman hemocultivos de forma rutinaria y el paciente es hospitalizado. Aún no existe una recomendación respecto al tiempo de observación necesario una vez internado el paciente. OBJETIVO: Describir las bacterias aisladas en hemocultivos de lactantes bajo 90 días de vida hospitalizados por fiebre y el tiempo de detección de crecimiento microbiano en los mismos. ¨MÉTODO: Estudio descriptivo, retrospectivo. Se revisaron hemocultivos positivos tomados entre 2014 y 2016 en neonatos y lactantes < 90 días de edad. Se obtuvieron las identificaciones, tiempo de positividad de las bacterias, así como datos clínicos, de laboratorio y demográficos. RESULTADOS: Se identificaron 172 hemocultivos positivos, 51 cumplían los criterios de inclusión. De éstos, 21 microorganismos fueron patógenos (Escherichia coli: 10, Streptococcus agalactiae: 3, Streptococcus pyogenes: 3, otros: 5) y 30 se consideraron contaminación, principalmente Staphylococcus coagulasa negativa. En relación al total de la muestra, la mediana del tiempo de positividad fue de 10 h. A las 24 h de cultivo se detectó crecimiento bacteriano en 94% de la muestra. CONCLUSIÓN: Las bacterias patógenas aisladas en los hemocultivos de pacientes < 90 días de edad, que ingresaron con fiebre, corresponden principalmente a bacilos gramnegativos y estreptococos. Todos los patógenos aislados fueron detectados antes de 24 h de incubación.

BACKGROUND: Fever in infants younger than 90 days may reflect a serious bacterial infection, so blood cultures (BC) are taken routinely and the patient is hospitalized. The observation time to detect occult bacteremia is not well established. AIM: To describe type and positivity time of isolated bacteria in blood cultures in infants under 90 days admitted for fever. METHODS: Retrospective, descriptive study. Positive blood cultures taken between 2014-2016 in young infants admitted for fever were included. Identification and time of positivity of each bacteria, clinical, laboratory and demographic data were recorded. Demographic variables and the clinical outcome was obtained. RESULTS: There were 172 positive blood cultures, only 51 met inclusion criteria. Of these, 21 microorganisms were pathogenic (Escherichia coli: 10, Streptococcus agalactiae: 3, Streptococcus pyogenes: 3, others: 5) and 30 were considered contamination, mainly coagulase negative Staphylococcus. In relation to the total sample, the median time of positivity was 10 hrs. At 24 hours of culture, bacterial growth was detected in 94% of the sample. CONCLUSION: The pathogenic bacteria isolated in the blood cultures of patients younger than 90 days who were admitted with fever correspond mainly to Gram negative bacilli and streptococci. All isolated pathogens were detected before 24 h of incubation.

Análisis acústico de la voz mediante el programa Praat: estudio comparativo con el programa Dr. Speech / Acoustic voice analysis using the Praat program: Comparative study with the Dr. Speech program

Introducción y objetivos: El protocolo de la European Laringological Society (ELS) para la valoración funcional de la disfonía incluye 5 dimensiones: percepción, análisis acústico, videoestroboscopia, aerodinámica y autovaloración del paciente. El objetivo de este trabajo es correlacionar los resultados obtenidos con el programa comercial Dr. Speech con los obtenidos con el programa gratuito Praat en 2 ámbitos: 1. Espectrograma de banda estrecha (presencia de ruido según Yanagihara y presencia de subarmónicos) (semicuantitativo). 2. Parámetros acústicos de la voz (jitter, shimmer, relación armónico-ruido, frecuencia fundamental) (cuantitativo). Material y métodos: Se estudiaron un total de 99 muestras de voz diagnosticadas mediante videoestroboscopia de edema de Reinke. En este estudio un observador independiente utilizó el Dr. Speech 3.0 y otro el Praat (Phonetic Sciences, University of Amsterdam). El análisis espectrográfico consistió en obtener un espectrograma de banda estrecha a partir de las anteriores voces digitalizadas por parte de los 2 observadores independientes. Después determinaron la presencia de ruido en el espectrograma siguiendo los grados de Yanagihara y la presencia de subarmónicos. Por último, se obtuvieron los siguientes parámetros acústicos: jitter, shimmer, relación armónico-ruido (HNR) y el valor de la frecuencia fundamental (Fo). Resultados: Los resultados indican que el espectrograma y el parámetro de perturbación de la frecuencia jitter son comparables en los 2 programas. También es comparable el parámetro de perturbación de la amplitud shimmer, a pesar de haber analizado tanto voces de tipo 1, como de tipo 2 y de tipo 3. Conclusiones: Los programas Praat y Dr. Speech ofrecen similares resultados en el análisis acústico de las voces patológicas (AU)

Introduction and objectives: The European Laryngological Society (ELS) basic protocol for functional assessment of voice pathology includes 5 different approaches: perception, videostroboscopy, acoustics, aerodynamics and subjective rating by the patient. In this study we focused on acoustic voice analysis. The purpose of the present study was to correlate the results obtained by the commercial software Dr. Speech and the free software Praat in 2 fields: 1. Narrow-band spectrogram (the presence of noise according to Yanagihara, and the presence of subharmonics) (semi-quantitative). 2. Voice acoustic parameters (jitter, shimmer, harmonics-to-noise ratio, fundamental frequency) (quantitative). Material and methods: We studied a total of 99 voice samples from individuals with Reinke's oedema diagnosed using videostroboscopy. One independent observer used Dr. Speech 3.0 and a second one used the Praat program (Phonetic Sciences, University of Amsterdam). The spectrographic analysis consisted of obtaining a narrow-band spectrogram from the previous digitalised voice samples by the 2 independent observers. They then determined the presence of noise in the spectrogram, using the Yanagihara grades, as well as the presence of subharmonics. As a final result, the acoustic parameters of jitter, shimmer, harmonics-to-noise ratio and fundamental frequency were obtained from the 2 acoustic analysis programs. Results: The results indicated that the sound spectrogram and the numerical values obtained for shimmer and jitter were similar for both computer programs, even though types 1, 2 and 3 voice samples were analysed. Conclusions: The Praat and Dr. Speech programs provide similar results in the acoustic analysis of pathological voices (AU)

[Acoustic voice analysis using the Praat program: comparative study with the Dr. Speech program]. / Análisis acústico de la voz mediante el progama Praat: estudio comparativo con el programa Dr. Speech.

INTRODUCTION AND OBJECTIVES: The European Laryngological Society (ELS) basic protocol for functional assessment of voice pathology includes 5 different approaches: perception, videostroboscopy, acoustics, aerodynamics and subjective rating by the patient. In this study we focused on acoustic voice analysis. The purpose of the present study was to correlate the results obtained by the commercial software Dr. Speech and the free software Praat in 2 fields: 1. Narrow-band spectrogram (the presence of noise according to Yanagihara, and the presence of subharmonics) (semi-quantitative). 2. Voice acoustic parameters (jitter, shimmer, harmonics-to-noise ratio, fundamental frequency) (quantitative). MATERIAL AND METHODS: We studied a total of 99 voice samples from individuals with Reinke's oedema diagnosed using videostroboscopy. One independent observer used Dr. Speech 3.0 and a second one used the Praat program (Phonetic Sciences, University of Amsterdam). The spectrographic analysis consisted of obtaining a narrow-band spectrogram from the previous digitalised voice samples by the 2 independent observers. They then determined the presence of noise in the spectrogram, using the Yanagihara grades, as well as the presence of subharmonics. As a final result, the acoustic parameters of jitter, shimmer, harmonics-to-noise ratio and fundamental frequency were obtained from the 2 acoustic analysis programs. RESULTS: The results indicated that the sound spectrogram and the numerical values obtained for shimmer and jitter were similar for both computer programs, even though types 1, 2 and 3 voice samples were analysed. CONCLUSIONS: The Praat and Dr. Speech programs provide similar results in the acoustic analysis of pathological voices.

Evaluation of yeasts obtained from Antarctic soil samples as biocontrol agents for the management of postharvest diseases of apple (Malus × domestica).

Psychrotrophic yeasts were isolated from Antarctic soils, selected based on their ability to grow in apple juice at low temperatures, and were evaluated as potential biocontrol agents for the management of postharvest diseases of apple during cold storage. Among the species recovered, an isolate of Leucosporidium scottii, designated At17, was identified as a good biocontrol agent for blue and gray mold of two apple cultivars. The selected isolate produced soluble and volatile antifungal substances that were inhibitory to apple pathogens. Siderophore production was also demonstrated, but it did not appear to play a role in pathogen inhibition. The selected yeast had the capacity to form a biofilm when grown in apple juice, which is considered an important attribute of postharvest antagonists to successfully colonize wounds and intact fruit surfaces. At17 was resistant to commonly used postharvest fungicides, so application of a combination of low-dose fungicide along with the biocontrol agent could be used as an integrated management practice.

Evaluación clínica abierta multicéntrica no aleatorizada y prospectiva de la efectividad de una emulsión a base de ácidos grasos hiperoxigenados, Aloe barbadensis y Mimosa tenuiflora (Mepentol® Leche) en diferentes tipos de pacientes con riesgo de ulceración / Multicentric prospective non randomized open clinical evaluation of the efficacy of an emulsion based on hyperoxigenated fatty acids Aloe barbadensis and Mimosa tenuiflora (Mepentol® Leche) in different types of patients with risk of ulceration

Las úlceras de la extremidad inferior suponen un grave problema sanitario que afecta a un gran número de pacientes, constituyendo por ello un gran reto de trabajo para los profesionales de la salud. Los ácidos grasos hiperoxigenados (AGHO) han demostrado tener eficacia en la prevención de este tipo de úlceras. Gracias a los buenos resultados obtenidos en un estudio previo, nos planteamos seguir evaluando la efectividad del producto Mepentol® Leche, una emulsión a base de ácidos grasos hiperoxigenados, Aloe barbadensis y Mimosa tenuiflora, en el cuidado de la piel y alivio de los síntomas en pacientes con este problema, pero ampliando el tamaño de la muestra y centrándonos en pacientes diabéticos junto con otras enfermedades concomitantes. Además, en este estudio se ha implicado a profesionales de enfermería de seis provincias: Almería, Alicante, Granada, Sevilla, Málaga y Ceuta. De nuevo con este estudio, realizado en un total de 2.145 pacientes, hemos demostrado que ningún paciente ha ulcerado durante el tiempo de seguimiento y tratamiento con Mepentol® Leche y que su aplicación sistemática mejora claramente los síntomas previos a la aparición de úlceras, evitando la sequedad cutánea, reduciendo el prurito, escozor, dolor y eccema, y devolviendo la piel de estos pacientes a su coloración normal (AU)

The lower extremity wounds are a serious health problem that affects a large number of patients, thereby assuming a great challenge to work for health professionals. Hyperoxygenated fatty acids (AGHO), have demonstrated efficacy in the prevention of this type of ulcers. Thanks to the good results obtained in a previous study, we plan to continue evaluating the effectiveness of Mepentol® Leche, an emulsion-based hyper-oxygenated fatty acids, Aloe barbadensis and Mimosa tenuiflora in skin care and relief of symptoms, in patients with this problem, but expanding the sample size and focusing on diabetic patients with concomitant diseases. Also in this study have been involving nurses in six provinces: Almería, Alicante, Granada, Seville, Malaga and Ceuta. Again with this study, a total of 2,145 patients, we demonstrated that no patient has ulcerated during the follow-up and treatment with Mepentol® Leche and its systematic application significantly improves the symptoms before the onset of ulcers, preventing dryness skin, reducing itching, burning, pain and eczema, and returning the skin of these patients to their normal color (AU)

Integration of global spectral karyotyping, CGH arrays, and expression arrays reveals important genes in the pathogenesis of glioblastoma multiforme.

BACKGROUND: Glioblastoma multiforme (GBM) is the most common primary tumor of the central nervous system in adults. Patients with GBM have few treatment options, and their disease is invariably fatal. Molecularly targeted agents offer the potential to improve patient treatment; however, the use of these will require a fuller understanding of the genetic changes in this complex tumor. METHODS: We analyzed a series of 32 patients with GBM with array comparative genomic hybridization in combination with gene expression analysis. We focused on the recurrent breakpoints found by spectral karyotyping (SKY). RESULTS: By SKY we identified 23 recurrent breakpoints of the 202 translocations found in GBM cases. Gains and losses were identified in chromosomal regions close to the breakpoints by array comparative genomic hybridization. We evaluated the genes located in the regions involved in the breakpoints in depth. A list of 406 genes that showed a level of expression significantly different between patients and control subjects was selected to determine their effect on survival. Genes CACNA2D3, PPP2R2B, SIK, MAST3, PROM1, and PPP6C were significantly associated with shorter survival (median 200 days vs. 450 days, P≤0.03). CONCLUSIONS: We present a list of genes located in regions of breakpoints that could be grounds for future studies to determine whether they are crucial in the pathogenesis of this type of tumor, and we provide a list of six genes associated with the clinical outcome of patients with GBM.

Prevalencia de depresión pospartoy factores sociodemográficos y obstétricosasociados. La cara oculta de ser madre / Prevalence of postpartum depression and associated sociodemographic and obstetric factors. The hidden side of being a mother

Objetivos: estimar el riesgo de depresión posparto (DPP) enuna población de puérperas atendidas en un centro de salud urbanodel Área de salud de Palencia, valorar la utilidad y facilidadde uso de la Edinburgh Postnatal Depresión Scale (EPDS)en la consulta de atención a la mujer en el postparto, identificarsi existe relación entre el riesgo de depresión detectado yfactores sociodemográficos, obstétricos y de riesgo psicosociale identificar los conocimientos y actitudes ante la DPP de laspuérperas.Material y método: estudio descriptivo realizado sobre las mujeresque acudieron a la primera visita posparto a la consulta dela matrona durante un período de un año (abril de 2007 a abrilde 2008). Se utilizaron dos cuestionarios: la Edimburgh PostnatalDepression Scale (EPDS) y otro de elaboración propiasobre conocimientos y actitudes ante esta patología. También seestudiaron variables sociodemográficas, obstétricas y sociales.Resultados: se estudiaron 74 mujeres. El riesgo de depresiónposparto detectado fue de un 18% (n=13). No se encontraronasociaciones estadísticamente significativas entre las diferentesvariables y el riego de DPP, excepto para el estado civil(un mayor de riesgo de test positivo si se era soltera). Un86,4% (n=64) de las encuestadas había oído hablar previamentesobre el tema y un 70,3% (n=52) lo consideran comoun importante problema de salud.Conclusiones: el estudio coincide con el límite superior delas cifras publicadas, que establecen la DPP en torno al 10-20%. Esto refuerza la importancia de la detección precoz ennuestro entorno. La comodidad y falta de problemas al rellenarel cuestionario confirma que la escala EPDS es operativay útil para utilizar como método de cribado del riesgo de DPPen Atención Primaria y debería ser aplicada a todas las puérperasde forma universal (AU)

Objectives: to estimate the risk of postpartum depression (PPD)in a population of women in the postnatal period who were seenin an urban health centre of the Palencia health Area, to assessthe utility and ease of use of the Edinburgh Postnatal DepressionScale (EPDS) in the management of women in the postpartumphase, to identify if there is a relationship between thedetected risk of depression and sociodemographic, obstetricand psychosocial risk factors and to identify the knowledge andattitudes of women in the postnatal period regarding PPD.Material and method: descriptive study performed on womenwho attended the first post-partum visit at the midwife’s consultationoffice over the course of one year (april 2007 to april2008). Two questionnaires were used: the Edinburgh PostnatalDepression Scale (EPDS) and a self-elaborated questionnaireon the knowledge and attitudes of women regarding thispathology. Sociodemographic, obstetric and social variableswere also studied.Results: 74 women were studied. The risk of postpartum depressionwas determined to be 18% (n=13). No statistically significantassociations between the different variables and therisk of PPD were found, except for marital status (increasedrisk of testing positive for PPD in the case of single women).86,4% (n=64) of surveyed women had previously heard aboutthe issue and 70,3% (n=52) consider it to be an importanthealth problem.Conclusions: the study coincides with the higher limit of publisheddata, which situate PPD at 10-20%. This highlights theimportance of early detection in our setting. The ease and lackof problems when filling out the questionnaire confirm thatthe EPDS scale is operative and useful as a PPD risk screeningmethod in Primary Care and should be applied to allwomen in the puerperium period (AU)

[Prevention of vascular ulcers and diabetic foot. Non-randomized open clinical evaluation on the effectiveness of "Mepentol Leche"]. / Prevención de ulceras vasculares y pie diabético. Evaluación clínica abierta no aleatorizada sobre la efectividad de Mepentol Leche.

INTRODUCTION: Vascular ulcers and diabetic foot ulcers present a health serious problem which affects a large number of patients, creating a major challenge for health professionals. Hyper-oxygenated fatty acid dressings have proven to be effective thanks to their favorable action on the skin in three ways: increasing the microcirculation of the blood, promoting the renovation of the epidermic cells, and notably increasing cutaneous hydration. OBJECTIVE: Evaluate the effectiveness of Mepentol Leche, an emulsion based on Hyper-oxygenated fatty acids, Aloe barbadensis and Mimosa tenuiflora, used to treat the skin and alleviate symptoms in patients who suffer from vascular ulcers and diabetic foot ulcers. METHODS: Clinical evaluation carried out between June 2004 and December 2005. 195 patients were studied. The parameters for inclusion in this study were 32.82% for venous pathology 35.90% for skin care, 26.67% due to arterial pathology, and 4.62% for a lymphatic pathology. These patients were evaluated over a one month period and each had a follow-up by means of a data collection file. The guideline to apply this product was twice a day and always over integral skin. The effectiveness of this product has been established based on these epigraphs: symptoms of itching, smarting and pain, and skin conditions: color, dryness, edema, maceration, rashes, and desquamation. RESULTS: Not one patient developed new lesions in healthy skin protected by Mepentol Leche. Symptoms linked to this pathology saw improvements in these percents: itching 96%, smarting 93%, and pain 96%, and skin conditions: color 100%, edema 90%, maceration 96%, rashes 92%, and desquamation 100%. Health professionals' evaluation of this product has been highly favorable in regards to ease of use, tolerance, absorption, and ease of application. CONCLUSIONS: This study showed the benefits in applying this product systematically to alleviate the symptoms prior to the appearance of ulcers, thus avoiding skin dryness and reducing itching, smarting, pain and eczema while returning normal color to the skin.

Prevención de úlceras vasculares y pie diabético. Evaluación clínica abierta no aleatorizada sobre la efectividad de Mepentol Leche / Prevention of vascular ulcers and diabetic foot. Non-randomized open clinical evaluation on the effectiveness of "Mepentol Leche"

Introducción: las úlceras vasculares y úlceras de pie diabético constituyen un grave problema sanitario que afecta a un gran número de pacientes, suponiendo por ello un gran reto de trabajo para los profesionales de la salud. Los ácidos grasos hiperoxigenados (AGHO) han demostrado tener eficacia gracias a su acción favorable sobre la piel en tres puntos: aumentando la microcirculación sanguínea, impulsando la renovación celular epidérmica y mejorando notablemente la hidratación cutánea. Objetivo: evaluar la eficacia del producto Mepentol Leche, una emulsión a base de ácidos grasos hiperoxigenados, Aloe barbadensis y Mimosa tenuiflora, en el cuidado de la piel y el alivio de los síntomas, en pacientes con úlceras vasculares y úlceras de pie diabético. Métodos: evaluación clínica realizada entre junio de 2004 a diciembre de 2005. Se estudia un total de 195 pacientes. Los parámetros de inclusión han sido: por patología venosa (32,82%), cuidado de la piel (35,90%), patología arterial (26,67%) y patología linfática (4,62%). Los pacientes han sido evaluados durante un mes y se ha realizado un seguimiento de cada uno de ellos mediante una ficha de recogida de datos. La pauta de aplicación del producto ha sido de dos veces al día y siempre en piel íntegra. La efectividad del producto se ha establecido en base a los siguientes epígrafes: sintomatología (prurito, escozor y dolor) y condiciones de la piel (coloración, sequedad, edema, maceración, eritema y descamación). Resultados: ningún paciente ha desarrollado nuevas lesiones en la piel sana protegida con Mepentol Leche. Los síntomas asociados mejoran en: prurito (96%), escozor (93%), dolor (96%), coloración de la piel (100%), edema (90%), maceración (96%), eritema (92%) y descamación (100%). La valoración del producto por parte de los profesionales ha sido muy buena respecto a la comodidad, tolerabilidad, absorción y facilidad de aplicación. Conclusiones: se demuestran los beneficios de su aplicación sistemática en el alivio de los síntomas previos a la aparición de úlceras, evitando la sequedad cutánea, reduciendo el prurito, escozor, dolor y eczema, y devolviendo la piel a su coloración normal

INTRODUCTION: Vascular ulcers and diabetic foot ulcers present a health serious problem which affects a large number of patients, creating a major challenge for health professionals. Hyper-oxygenated fatty acid dressings have proven to be effective thanks to their favorable action on the skin in three ways: increasing the microcirculation of the blood, promoting the renovation of the epidermic cells, and notably increasing cutaneous hydration. OBJECTIVE: Evaluate the effectiveness of Mepentol Leche, an emulsion based on Hyper-oxygenated fatty acids, Aloe barbadensis and Mimosa tenuiflora, used to treat the skin and alleviate symptoms in patients who suffer from vascular ulcers and diabetic foot ulcers. METHODS: Clinical evaluation carried out between June 2004 and December 2005. 195 patients were studied. The parameters for inclusion in this study were 32.82% for venous pathology 35.90% for skin care, 26.67% due to arterial pathology, and 4.62% for a lymphatic pathology. These patients were evaluated over a one month period and each had a follow-up by means of a data collection file. The guideline to apply this product was twice a day and always over integral skin. The effectiveness of this product has been established based on these epigraphs: symptoms of itching, smarting and pain, and skin conditions: color, dryness, edema, maceration, rashes, and desquamation. RESULTS: Not one patient developed new lesions in healthy skin protected by Mepentol Leche. Symptoms linked to this pathology saw improvements in these percents: itching 96%, smarting 93%, and pain 96%, and skin conditions: color 100%, edema 90%, maceration 96%, rashes 92%, and desquamation 100%. Health professionals' evaluation of this product has been highly favorable in regards to ease of use, tolerance, absorption, and ease of application. CONCLUSIONS: This study showed the benefits in applying this product systematically to alleviate the symptoms prior to the appearance of ulcers, thus avoiding skin dryness and reducing itching, smarting, pain and eczema while returning normal color to the skin

Geographic differences in the incidence of cytogenetic abnormalities of acute myelogenous leukemia (AML) in Spain.

The incidence of chromosomal abnormalities in acute myeloid leukemia (AML) differs according to geographical regions in Spain. We analyse 1,271 consecutive patients diagnosed of AML between 1995 and 2002 in three different regions of Spain: northern, central and southern. There were 624 males (55%) and 505 females (45%). Age ranged between 1 month and 94 years with a median of 61 years. Abnormal karyotypes were observed in 64% of cases. Numerical abnormalities as sole cytogenetic changes were detected in 15% of patients, while structural aberrations were present in 28% of cases, and both abnormalities were found in 22% of patients. A significantly higher proportion of t(15;17) was observed in the south of Spain (21.6%) than in the central (17%) or northern regions (12.6%) (p=0.03). By contrast, patients from the south of Spain showed lower incidence of t(8;21) (0%, compared to 1.6% and 3.6% in central and northern areas, respectively, p=0.04). These differences were maintained in the age-adjusted analysis. Trisomy 8 showed similar incidence in southern and central areas, while the incidence in the northern area was lower (14% and 10%, respectively, p=0.04). Other chromosomal abnormalities, such as inv(16) or 11q23 rearrangements, were found at similar frequencies in the three regions.

Hematological, immunophenotypic, and cytogenetic characteristics of acute myeloblastic leukemia with trisomy 11.

We evaluated the incidence of trisomy 11 in acute myeloblastic leukemia (AML) and its correlation with the most relevant clinical, biological, and immunophenotypic disease characteristics in a total of 399 consecutive AML patients. Trisomy 11 was found in 15 patients (3.8%), in 3 of them as the sole abnormality. Median age was 68 years (range 48-87); 87% of patients were older than 60 years. Seven patients displayed multilineage dysplasia. Cytogenetics showed an association with trisomy 8 in six patients, and in five cases with a del(5q); nine patients had complex karyotypes. In all cases, in situ hybridization studies revealed three copies of the MLL gene, but no rearrangements or tandem duplications of MLL. Immunophenotypic analysis of blast cells showed a constant immature immunophenotypic profile with CD34 or CD117 expression (or both) in all cases analyzed. The complete remission rate was 43%; median survival time was only 2 months.

The value of fluorescence in situ hybridization for the detection of 11q in multiple myeloma.

BACKGROUND AND OBJECTIVES: A large number of chromosomal abnormalities have been detected in multiple myeloma (MM). The most frequent are chromosome 13q deletions and translocations affecting the immunoglobulin heavy chain gene (IGH). Recent studies using comparative genomic hybridization (CGH) have shown that gains of 11q represent one of the most frequent genomic changes in MM. However CGH is not generally used in routine clinical laboratories. DESIGN AND METHODS: In the present study, efficiency of fluorescent in situ analysis (FIS)H analysis in the detection of 11q abnormalities in MM patients was investigated. Cytogenetic and FISH studies with three different specific probes for the regions containing the genes BCL1 (11q13), ATM (11q22) and MLL (11q23) were simultaneously performed in 52 patients: 9 cases with 11q abnormalities detected by conventional cytogenetics and 43 cases without 11q abnormalities. FISH analysis identified 11q aberrations that were undetected by cytogenetics in 16 out the 43 cases (37%). RESULTS: Gains on 11q were present in 13 cases (30%) while rearrangements on 11q were observed in the remaining 3 cases. No losses were found. All 11q gains involved the three regions analyzed (BCL1, ATM and MLL genes) while only rearrangements of BCL1 were observed. In all control cases the 11q alterations were confirmed by FISH. A good overall correlation between CGH and FISH was observed. Nevertheless gains on BCL1, ATM and MLL genes were observed in 3 cases displaying a normal CGH. INTERPRETATION AND CONCLUSIONS: In summary, chromosomal abnormalities on 11q are frequent in MM. FISH studies demonstrate a high sensitivity at detecting this abnormality and should be used in the routine evaluation of MM.

Heterogeneity of structural abnormalities in the 7q31.3 approximately q34 region in myeloid malignancies.

Abnormalities in the long arm of chromosome 7 are a frequent chromosomal aberration in myeloid disorders. Most studies have focused on the analysis of del(7q), demonstrating the presence of several minimal deleted regions in 7q22 approximately q31. By contrast, few studies in myeloid disorders have been devoted to the analysis of translocations, either balanced or unbalanced, involving 7q. In this study, we used fluorescence in situ hybridization (FISH) to characterize the 7q31.3 approximately q34 region (markers D7S480-D7S2227) in patients with deletion or translocation of 7q. A total of 910 cases of myeloid disorders were studied by conventional cytogenetics. Fifty-eight (6%) patients had structural aberrations of 7q. FISH studies were carried out in the 27 patients with involvement of 7q31 approximately q34: 14 cases had an acute myelogenous leukemia and 13 cases had a myelodysplastic syndrome. FISH analysis revealed the existence of high complexity in the 7q31.3 approximately q34 region in patients with unbalanced translocations. No breakpoints in 7q31.3 approximately q34 were found in the cases with deletion or balanced translocation. Nevertheless, studies of unbalanced translocations showed several breakpoints in markers D7S480-D7S2227, which delineate a commonly altered region. The complexity of 7q rearrangements suggests that a synergy of different genetic factors, rather than the alteration of a single tumor suppressor gene, could be involved in the pathogenesis of del(7q) in myeloid disorders.

Multicolor fluorescence in situ hybridization studies in multiple myeloma and monoclonal gammopathy of undetermined significance.

The aim of the study was to test the multicolor fluorescence in situ hybridization technique (M-FISH) in seven multiple myeloma (MM) and eight monoclonal gammopathy (MGUS) patients. None of the eight MGUS patients had chromosomal abnormalities by conventional cytogenetics. In two of these patients structural abnormalities of chromosomes 2, 11 and 19 were found by M-FISH. However, these findings were not confirmed by conventional in situ hybridization. M-FISH only showed numerical chromosomal abnormalities in one out of the three MM cases with a normal karyotype. In the two MM cases with complex karyotype, M-FISH demonstrated the origin of the marker chromosomes. M-FISH is a useful technique to identify the origin of the marker chromosomes in MM. In contrast, MM or MGUS patients with normal karyotypes by conventional cytogenetics did not show structural abnormalities by M-FISH.