De-escalating axillary management after neoadjuvant chemotherapy in breast cancer: The ratio of positive sentinel lymph nodes matters.

BACKGROUND: De-escalation of axillary surgery in breast cancer (BC) patients diminishes sequelae without compromising cancer outcomes. Surgical management of the axilla is challenging after neoadjuvant treatment. We aimed to identify the factors associated with residual axillary disease amenable to lymphadenectomy in patients with positive sentinel lymph node biopsy (SLNB). METHODS: We conducted a retrospective observational study in Hospital 12 de Octubre (Spain). We included BC patients with positive SLNB who underwent axillary dissection after neoadjuvant chemotherapy. Univariate and multivariate logistic regression models were performed to identify independent predictors of residual axillary disease. We estimated the ratio of positive nodes in SLNB and assessed the diagnostic validity of this ratio in relation to residual axillary disease. RESULTS: We included 103 patients in the study. Residual axillary disease was identified in 54 patients (52.4%). Clinically node positive status at diagnosis (OR = 18.3, 95%CI: 4.0-83.6) and a ratio of positive nodes in SLNB ≥0.5 (OR = 6.5, 95%CI 41.7-23.7) were associated with residual axillary disease. The sensitivity and negative predictive value of a ratio of positive nodes in SLNB ≥0.5 were 87% (95%CI 75.1%-94.6%) and 75% (95%CI 55.1%-89.3%), respectively. CONCLUSIONS: In our study, for patients with positive SLNB after neoadjuvant chemotherapy, stage N+ at diagnosis and a ratio of positive nodes in SLNB ≥0.5 were independent risk factors of positive residual axillary disease. This ratio is a feasible measure with a good diagnostic validity for residual axillary disease and could be used as a guiding factor in the surgical management of these patients.

Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome.

INTRODUCTION: Glucose transporter type 1 (GLUT1) deficiency syndrome may present a range of phenotypes, including epilepsy, intellectual disability, and movement disorders. The majority of patients present low CSF glucose levels and/or defects in the SLC2A1 gene; however, some patients do not present low CSF glucose or SLC2A1 mutations, and may have other mutations in other genes with compatible phenotypes. AIMS: We describe the clinical, biochemical, and genetic characteristics of the disease and perform a univariate analysis of a group of patients with clinical and biochemical phenotype of GLUT1 deficiency syndrome, with or without SLC2A1 mutations. MATERIAL AND METHODS: The study included 13 patients meeting clinical and biochemical criteria for GLUT1 deficiency syndrome. SLC2A1 sequencing and multiplex ligation-dependent probe amplification were performed; exome sequencing was performed for patients with negative results. RESULTS: Six patients presented the classic phenotype; 2 paroxysmal dyskinesia, 2 complex movement disorders, 2 early-onset absence seizures, and one presented drug-resistant childhood absence epilepsy. Six patients were positive for SLC2A1 mutations; in the other 5, another genetic defect was identified. No significant differences were observed between the 2 groups for age of onset, clinical presentation, microcephaly, intellectual disability, or response to ketogenic diet. Patients with SLC2A1 mutations presented more clinical changes in relation to diet (66.7%, vs 28.6% in the SLC2A1-negative group) and greater persistence of motor symptoms (66% vs 28.6%); these differences were not statistically significant. Significant differences were observed for CSF glucose level (34.5 vs 46mg/dL, P=.04) and CSF/serum glucose ratio (0.4 vs 0.48, P<.05). CONCLUSIONS: GLUT1 deficiency syndrome may be caused by mutations to genes other than SLC2A1 in patients with compatible phenotype, low CSF glucose level, and good response to the ketogenic diet.

Estudio de pacientes pediátricos con fenotipo clínico y bioquímico de síndrome de déficit de transportador de glucosa cerebral (GLUT-1) / Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome

Introducción: El síndrome de déficit del transportador de glucosa cerebral (GLUT1DS) puede presentar fenotipos variados, incluyendo epilepsia, déficit intelectual y trastorno del movimiento. La mayoría presenta hipoglucorraquia y/o defectos en el gen SLC2A1, aunque existen pacientes sin hipoglucorraquia y otros con genética de SLC2A1-negativa, o con defectos en otros genes y fenotipo compatible. Objetivos: Describir las características clínicas, bioquímicas y genéticas y realizar un análisis univariante de un grupo de pacientes con fenotipo clínico y bioquímico de GLUT1DS, con o sin genética SLC2A1-positiva. Material y métodos: Se incluyeron 13 pacientes con criterios clínico-bioquímicos de GLUT1DS. Se realizó secuenciación de SLC2A1 y MLPA. En los casos negativos se realizó exoma clínico. Resultados: Seis presentaron fenotipo clásico, 2 discinesia paroxística, 2 trastornos del movimiento complejo, 2 ausencias precoces y otro presentó epilepsia con ausencias infantiles refractaria a farmacoterapia. Seis fueron SLC2A1-positivos. Y en 5 de los SLC2A1-negativos se identificó otro defecto genético. No hubo diferencias significativas entre los dos grupos en edad de inicio, presentación clínica, microcefalia, discapacidad intelectual ni respuesta a dieta cetogénica. De forma no significativa, los pacientes SCL2A1-positivos presentaron más cambios clínicos en relación con la ingesta (66,7% vs. 28,6%) y mayor persistencia de síntomas motores (66% vs. 28,6%). De forma significativa, presentaron menor glucorraquia (34,5 mg/dl vs. 46 mg/dl, p = 0,04) e índice glucorraquia/glucemia más bajo (0,4 vs. 0,48, p = 0,05) que los SLC2A1-negativos. Conclusiones: GLUT1DS puede ser causado por defectos genéticos en otros genes diferentes de SLC2A1 en pacientes con fenotipo compatible, hipoglucorraquia y buena respuesta a dieta cetogénica. (AU)

Introduction: Glucose transporter type 1 (GLUT1) deficiency syndrome may present a range of phenotypes, including epilepsy, intellectual disability, and movement disorders. The majority of patients present low CSF glucose levels and/or defects in the SLC2A1 gene; however, some patients do not present low CSF glucose or SLC2A1 mutations, and may have other mutations in other genes with compatible phenotypes. Aims: We describe the clinical, biochemical, and genetic characteristics of the disease and perform a univariate analysis of a group of patients with clinical and biochemical phenotype of GLUT1 deficiency syndrome, with or without SLC2A1 mutations. Material and methods: The study included 13 patients meeting clinical and biochemical criteria for GLUT1 deficiency syndrome. SLC2A1 sequencing and multiplex ligation-dependent probe amplification were performed; exome sequencing was performed for patients with negative results. Results: Six patients presented the classic phenotype; 2 paroxysmal dyskinesia, 2 complex movement disorders, 2 early-onset absence seizures, and one presented drug-resistant childhood absence epilepsy. Six patients were positive for SLC2A1mutations; in the other 5, another genetic defect was identified. No significant differences were observed between the 2 groups for age of onset, clinical presentation, microcephaly, intellectual disability, or response to ketogenic diet. Patients ith SLC2A1 mutations presented more clinical changes in relation to diet (66.7% vs. 28.6% in the SLC2A1-negative group) and greater persistence of motor symptoms (66% vs. 28.6%); these differences were not statistically significant. Significant differences were observed for CSF glucose level (34.5 vs. 46 mg/dL, P = .04) and CSF/serum glucose ratio (0.4 vs. 0.48, P < .05). [...] (AU)

[Anti-NMDA receptor encephalitis with unilateral hemispheric affectation]. / Encefalitis por anticuerpos contra el receptor de NMDA con afectacion hemisferica unilateral.

TITLE: Encefalitis por anticuerpos contra el receptor de NMDA con afectacion hemisferica unilateral.

Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome. / Estudio de pacientes pediátricos con fenotipo clínico y bioquímico de síndrome de déficit de transportador de glucosa cerebral (GLUT-1).

INTRODUCTION: Glucose transporter type 1 (GLUT1) deficiency syndrome may present a range of phenotypes, including epilepsy, intellectual disability, and movement disorders. The majority of patients present low CSF glucose levels and/or defects in the SLC2A1 gene; however, some patients do not present low CSF glucose or SLC2A1 mutations, and may have other mutations in other genes with compatible phenotypes. AIMS: We describe the clinical, biochemical, and genetic characteristics of the disease and perform a univariate analysis of a group of patients with clinical and biochemical phenotype of GLUT1 deficiency syndrome, with or without SLC2A1 mutations. MATERIAL AND METHODS: The study included 13 patients meeting clinical and biochemical criteria for GLUT1 deficiency syndrome. SLC2A1 sequencing and multiplex ligation-dependent probe amplification were performed; exome sequencing was performed for patients with negative results. RESULTS: Six patients presented the classic phenotype; 2 paroxysmal dyskinesia, 2 complex movement disorders, 2 early-onset absence seizures, and one presented drug-resistant childhood absence epilepsy. Six patients were positive for SLC2A1 mutations; in the other 5, another genetic defect was identified. No significant differences were observed between the 2 groups for age of onset, clinical presentation, microcephaly, intellectual disability, or response to ketogenic diet. Patients with SLC2A1 mutations presented more clinical changes in relation to diet (66.7% vs. 28.6% in the SLC2A1-negative group) and greater persistence of motor symptoms (66% vs. 28.6%); these differences were not statistically significant. Significant differences were observed for CSF glucose level (34.5 vs. 46mg/dL, P=.04) and CSF/serum glucose ratio (0.4 vs. 0.48, P<.05). CONCLUSIONS: GLUT1 deficiency syndrome may be caused by mutations to genes other than SLC2A1 in patients with compatible phenotype, low CSF glucose level, and good response to the ketogenic diet.

[Two new cases of Leigh syndrome caused by mutation m.13513G> A in the MTND5 gene]. / Dos nuevos casos de sindrome de Leigh por mutacion m.13513G>A en el gen MTND5.

TITLE: Dos nuevos casos de sindrome de Leigh por mutacion m.13513G>A en el gen MTND5.

[Metabolic approach in epileptic encephalopathies in infants]. / Abordaje metabolico en las encefalopatias epilepticas del lactante.

INTRODUCTION: Although the overall incidence of inborn errors of metabolism is low, their early diagnosis is essential, since some of them have a specific treatment. DEVELOPMENT: We review the main treatable inborn errors of metabolism that can present as early-onset epileptic encephalopathies, together with their biochemical markers and their treatment. CONCLUSIONS: It is important to think about the possibility of an inborn error of metabolism with a specific therapy, since it is crucial for this to be started as soon as possible in order to prevent permanent neurological damage.

TITLE: Abordaje metabolico en las encefalopatias epilepticas del lactante.Introduccion. Aunque la incidencia global de los errores congenitos del metabolismo es baja, su diagnostico precoz es fundamental, ya que algunos de ellos tienen tratamiento especifico. Desarrollo. Se revisan los principales errores congenitos del metabolismo tratables que pueden cursar como encefalopatia epileptica de inicio precoz, asi como sus marcadores bioquimicos y su tratamiento. Conclusiones. Es importante pensar en la posibilidad de un error congenito del metabolismo con terapia especifica, ya que es fundamental que esta comience lo antes posible para evitar un daño neurologico permanente.

Hallazgos neurorradiológicos en una serie de pacientes con mucopolisacaridosis / Neuroimaging findings in patient series with mucopolysaccharidosis

Introduction: Mucopolysaccharidoses (MPS) are a group of inherited disorders due to lysosomal enzyme deficiencies. The aims of this study are to describe the neuroimaging findings in children evaluated in our hospital with this diagnosis, looking for a possible correlation of these alterations with the type of MPS and clinical severity, and finally to compare these findings with those previously reported. Material and methods: We retrospectively analysed the medical records of 19 patients who had been diagnosed with MPS between 1992 and 2010: 7 had type I (5 with Hurler syndrome and 2 with Hurler-Scheie syndrome), 10 had type II or Hunter syndrome (4 with the severe form and 6 with the mild form), 1 had type III or Sanfilippo syndrome and 1 had type VI or Maroteaux-Lamy syndrome. We assessed the brain neuroimaging studies: computed axial tomography (CAT) in 5 patients, and magnetic resonance imaging (MRI) in 15. Results: We observed a broad spectrum of neuroimaging anomalies. In CAT: mega cisterna magna (3/5, 60%). In brain MRI: dilated Virchow-Robin perivascular spaces (11/15, 73%), white matter abnormalities (11/15, 73%), and ventriculomegaly (5/15, 33%). Conclusions: Abnormal findings in neuroimaging studies are frequent in MPS (dilated Virchow-Robin perivascular spaces, white matter abnormalities and ventriculomegaly). Thus, given these abnormalities we should be aware of this possible diagnosis, particularly when typical signs and symptoms are present. However, we did not find a correlation between these findings and either any specific type of MPS or clinical severity (AU)

Introducción: Las mucopolisacaridosis (MPS) son un grupo de enfermedades hereditarias de depósito lisosomal. El objetivo de esta revisión es describir las alteraciones neurorradiológicas en los niños evaluados en nuestro hospital con este diagnóstico, buscar la posible correlación de estas alteraciones con el tipo de MPS y con la gravedad clínica, y comparar nuestros hallazgos con lo descrito en la literatura. Material y métodos:Revisamos retrospectivamente las historias clínicas de 19 pacientes diagnosticados de MPS en el periodo 1992-2010: 7 tipo I (5 con síndrome de Hurler y 2 con Hurler-Scheie), 10 tipo II o síndme de Hunter (4 con la forma grave y 6 con la moderada), 1 tipo III o síndrome de Sanfilippo y 1 tipo VI o síndrome de Maroteaux-Lamy. Se analizaron las pruebas de neuroimagen: tomografía computarizada (TC) en 5 pacientes y resonancia magnética craneal (RMC) en 15. Resultados: Encontramos un amplio espectro de alteraciones radiológicas. En la TC destaca la megacisterna magna (3/5, 60%); en la RMC el aumento de los espacios perivasculares (11/15, 73%), la alteración parcheada de la sustancia blanca (SB) (11/15, 73%) y la ventriculomegalia (5/15, 33%).Conclusiones: Algunas anomalías neurorradiológicas son frecuentes en las MPS (aumento de los espacios perivasculares, alteraciones de la SB, ventriculomegalia), por lo que ante estos hallazgos debemos investigar esta posibilidad diagnóstica, especialmente en pacientes con clínica compatible. No hemos hallado datos específicos de cada tipo de MPS, ni relación de estas alteraciones radiológicas con la gravedad de la forma clínica (AU)

Epilepsias benignas de la infancia: dificultades académicas y alteraciones comportamentales / Benign childhood epilepsies: academic difficulties and behavioural disorder

Introducción. Se han publicado artículos en los que se muestra que los pacientes pueden presentar trastornos del comportamiento y dificultad para el aprendizaje en las epilepsias benignas de la infancia (EBI). Objetivos. Hacer una revisión de los pacientes con diagnóstico de EBI en nuestro hospital e identificar si presentan dichas alteraciones. Pacientes y métodos. Revisión retrospectiva de las historias clínicas de los pacientes con diagnóstico de EBI. Se realizó electroencefalograma (EEG) o video-EEG-poligrafía de sueño a todos los pacientes. Para la valoración intelectual se utilizaron los tests de inteligencia para niños de Wechsler. Resultados. Se recogieron 102 pacientes con diagnóstico de EBI. El 51,6% de los pacientes con epilepsia rolándica mostraba una atención dispersa y el 16,2% evidenciaba un temperamento impulsivo. En el grupo con síndrome de Panayiotopoulos, un 30,3% mostraba una atención dispersa y un 27,3% presentaba un temperamento impulsivo. Se llevó a cabo una valoración psicométrica en 43 pacientes. El valor del cociente intelectual total medio fue de 95 (rango: 55-126). En los tres grupos el rendimiento escolar fue bueno en aproximadamente la mitad, regular en cerca del 30% y malo en alrededor del 15%. En el grupo con epilepsia rolándica se encontró relación entre paroxismos frontales (p = 0,039) y occipitales (p = 0,004) en el EEG y un peor rendimiento escolar. En este grupo, los niños con conductas calificadas como dispersa, impulsiva o hiperactiva mostraban con más frecuencia paroxismos izquierdos (p = 0,030). Conclusiones. Las EBI son entidades con buen pronóstico, pero parecen asociar trastornos del aprendizaje y conductuales. Sería conveniente realizar estudios neuropsicológicos a estos pacientes para detectar tales alteracione (AU)

Introduction. Some papers published in the literature have shown that patients can present behavioural disorders and learning difficulties in benign childhood epilepsies (BCE). Aims. To review the patients diagnosed with BCE in our hospital and to determine whether they present such disorders. Patients and methods. The study consisted in a retrospective review of the medical records of patients diagnosed with BCE. An electroencephalogram (EEG) or video-EEG-polygraph recordings were performed on all patients during sleep. The Wechsler Intelligence Scale for Children was used to evaluate intelligence. Results. Data were collected for 102 patients diagnosed with BCE. Dispersed attention was observed in 51.6% of the patients with rolandic epilepsy and 16.2% displayed an impulsive temperament. In the group of patients with Panayiotopoulos syndrome, 30.3% displayed dispersed attention and 27.3% presented an impulsive temperament. A psychometric evaluation was carried out in 43 patients. The overall mean intelligence quotient was 95 (range: 55-126). In the three groups, academic achievement was good in approximately half the sample, regular in about 30% and poor in around 15%. In the group with rolandic epilepsy, the EEG showed a relation between frontal (p = 0.039) and occipital paroxysms (p = 0.004) and poorer academic achievement. In this group, the children with behaviours classed as dispersed, impulsive or hyperactive showed left-side paroxysms more frequently (p = 0.030). Conclusions. BCE are conditions with a good prognosis, but seem to be associated to learning and behavioural disorders. Neuropsychological studies should be conducted on these patients to detect these disorders (AU)

Neuroimaging findings in patient series with mucopolysaccharidosis.

INTRODUCTION: Mucopolysaccharidoses (MPS) are a group of inherited disorders due to lysosomal enzyme deficiencies. The aims of this study are to describe the neuroimaging findings in children evaluated in our hospital with this diagnosis, looking for a possible correlation of these alterations with the type of MPS and clinical severity, and finally to compare these findings with those previously reported. MATERIAL AND METHODS: We retrospectively analysed the medical records of 19 patients who had been diagnosed with MPS between 1992 and 2010: 7 had type I (5 with Hurler syndrome and 2 with Hurler-Scheie syndrome), 10 had type II or Hunter syndrome (4 with the severe form and 6 with the mild form), 1 had type III or Sanfilippo syndrome and 1 had type VI or Maroteaux-Lamy syndrome. We assessed the brain neuroimaging studies: computed axial tomography (CAT) in 5 patients, and magnetic resonance imaging (MRI) in 15. RESULTS: We observed a broad spectrum of neuroimaging anomalies. In CAT: mega cisterna magna (3/5, 60%). In brain MRI: dilated Virchow-Robin perivascular spaces (11/15, 73%), white matter abnormalities (11/15, 73%), and ventriculomegaly (5/15, 33%). CONCLUSIONS: Abnormal findings in neuroimaging studies are frequent in MPS (dilated Virchow-Robin perivascular spaces, white matter abnormalities and ventriculomegaly). Thus, given these abnormalities we should be aware of this possible diagnosis, particularly when typical signs and symptoms are present. However, we did not find a correlation between these findings and either any specific type of MPS or clinical severity.

Características y evolución de los pacientes con síndrome de Alicia en el País de las Maravillas / Characteristics and evolution of patients with Alice in Wonderland syndrome

Introducción. El síndrome de Alicia en el País de las Maravillas es un cuadro de trastornos complejos de la percepción visual con múltiples etiologías. Objetivo. Describir las características clínicas, electrofisiológicas y etiológicas, y la evolución natural de los pacientes diagnosticados con este síndrome en relación con las diferentes etiologías. Pacientes y métodos. Estudio retrospectivo con la revisión de 20 pacientes con este diagnóstico desde enero de 1995 hasta febrero de 2010, recogiendo variables correspondientes a datos epidemiológicos, características de presentación, pruebas complementarias y evolución. Resultados. La media de edad al diagnóstico fue de 9,5 ± 3,8 años. Se presentó de manera aguda en el 85%. Experimentó micropsias o macropsias el 90%, distorsión de la forma de objetos el 85%, desplazamiento de objetos el 80%, distorsión de la imagen corporal el 45%, aceleración del tiempo el 45%, y sensación de irrealidad el 30%. El 95% fueron episodios pluricotidianos, con duración inferior a tres minutos. Se realizó electroencefalograma en todos los pacientes, resultando alterado en 11. Las pruebas de neuroimagen fueron normales en todos ellos. Cinco de los pacientes mostraron potenciales evocados visuales gigantes. Se determinó la etiología en todos los casos, infecciosa en nueve casos (cinco asociados a virus de Epstein-Barr), migraña en ocho, tóxicos en dos y epilepsia en uno. El 80% no tuvo recurrencia. Conclusiones. El síndrome de Alicia en el País de las Maravillas es un proceso de naturaleza benigna con resolución espontánea y sin recurrencia en la mayoría de las ocasiones. Entre la etiología destaca la infección por virus de Epstein-Barr y la migraña

Introduction. Alice in Wonderland syndrome is a process characterized for complex disorders of the visual perception with multiple etiologies. Aim. To evaluate the clinical, electrophysiological, etiological characteristics and natural evolution in children with Alice in Wonderland syndrome. Patients and methods. We have realized a retrospective study by what means of a review of 20 clinical histories of 18 year old minor patients diagnosed of Alice in Wonderland syndrome from January 1995 until February 2010. Results. The average of age to the diagnosis was 9.5 ± 3.8 years (range: 4-16 years). It appeared in an acute way in 85% and progressive in 15%. 90% had micropsias and/or macropsias, 85% distortion of the form of the objects, 80% displacement of objects, 45% disturbances of body image, 45% acceleration of the time and 30% sensation of unreality. 95% of the children had many episodes a day; these episodes lasted less than 3 minutes in 90%. Electroencephalogram was realized in all the patients, it was abnormal in 11 cases, in one case was found and epileptic foci (left temporal) and in 10 cases was found posterior slow waves. The tests of neuroimagen were normal in all the patients. The visual evoked potentials were realized in 7 children; five of these children showed higher amplitude in evoked potentials and two of these children had normal. The infectious etiology was found in nine cases (five partners to Epstein-Barr virus), migraine in eight, toxins in two and epilepsy in one case. 80% did not have recurrence. Conclusions. Alice in Wonderland syndrome is a benign process with trend to spontaneous resolution and without recurrence in the majority of the occasions. The principal etiologies are migraine and Epstein-Barr virus infection

Síndrome de Panayiotopoulos: dificultades académicas y alteraciones comportamentales / Panayiotopoulos syndrome: academic difficulties and behavioural disorders

Introducción. El síndrome de Panayiotopoulos (SP) constituye una de las epilepsias benignas de la infancia. Existen artículos en los que se muestra que los pacientes pueden presentar trastornos del comportamiento y dificultad para el aprendizaje. Objetivos. Revisar a los pacientes con diagnóstico de SP de nuestro hospital y comprobar si evidencian dichas alteraciones y si existe alguna característica específica que permita identificar a pacientes con riesgo. Pacientes y métodos. Revisión retrospectiva de historias clínicas de pacientes con diagnóstico de SP. Se realizó electroencefalograma (EEG) o video-EEG-poligrafía de sueño a todos los pacientes. Para la valoración intelectual se utilizó la escala de inteligencia de Wechsler para niños.Resultados. Se recogieron 33 pacientes, 17 de ellos, niños. La mediana de edad al inicio fue de 3,2 años y el seguimiento fue de 4,9 años (rango: 1-12 años). En 31 pacientes se detectaron grafoelementos irritativos en regiones occipitales (67,7%), temporales (45,2%) o parietales (22,5%). El 72,7% de los pacientes presentó más de dos crisis. Veintitrés pacientes precisaron tratamiento antiepiléptico. A dos pacientes se les diagnosticó trastorno por déficit de atención/hiperactividad. El 30,3% refería una atención dispersa, y el 27,3%, temperamento impulsivo. El 51,1% tenía un rendimiento en los estudios bueno, el 26,5% regular y el 17,6% malo. El 39,4% precisó apoyos extraescolares. Se realizó una valoración del nivel intelectual a 11 pacientes. Conclusión. El SP es una entidad con un buen pronóstico, pero parece asociar trastornos del aprendizaje y conductuales (AU)

Introduction. Panayiotopoulos syndrome (PS) is one of the benign epilepsies found in childhood. Some papers have shown that patients can present behavioural disorders and learning difficulties. Aims. To review patients diagnosed with PS in our hospital and to check whether they display evidence of such disorders and if there is any specific feature that allows high-risk patients to be identified. Patients and methods. A retrospective review of the medical records of patients diagnosed with PS was carried out. An electroencephalogram (EEG) or video-EEG-polygraph recordings were performed on all patients during sleep. The Weschler Intelligence Scale for Children was used to evaluate intelligence. Results. Data were collected for 33 patients, 17 of whom were children. The mean age at onset was 3.2 years and the follow-up was 4.9 years (range: 1-12 years). Irritative EEG phenomena were detected in the occipital (67.7%), temporal (45.2%) or parietal regions (22.5%) in 31 patients. Furthermore, 72.7% of patients presented more than two seizures. Twenty-three patients required treatment with antiepileptic drugs. Two patients were diagnosed with attention deficit hyperactivity disorder. Additionally, 30.3% reported dispersed attention and 27.3% had an impulsive character. It was found that 51.1% had a good level of academic achievement, in 26.5% it was regular and in 17.6% poor. A total of 39.4%needed assistance in the form of after-school classes. The level of intelligence was evaluated in 11 patients. Conclusion. PS is a condition with a good prognosis, but seems to be associated to learning and behavioural disorders (AU)

[Para-infectious seizures in children: a retrospective study of 34 cases]. / Crisis parainfecciosas en el niño: estudio retrospectivo de 34 casos.

INTRODUCTION: Para-infectious seizures are afebrile convulsions that are associated with banal infectious processes and have a good overall prognosis. AIM: To determine the natural history of para-infectious seizures in children. PATIENTS AND METHODS: We conducted a retrospective study of children who were admitted to our hospital between January 2000 and January 2005 with seizures associated to an infectious process that did not satisfy the criteria of febrile seizures. Data collected included age, sex, season of the year, personal and familial history, type of infection, symptoms of the seizures, complementary examinations, treatments that were used and progression. RESULTS: The sample finally included 22 girls and 12 boys with ages ranging from 6 to 38 months (mean: 20.26 +/- 8.29 months) and previous psychomotor development was seen to be normal. Three of them had a family history of epilepsy and three others had suffered previous febrile seizures. Twenty-three children developed seizures associated to gastroenteritis and in 11 cases they were linked to upper respiratory infections. The average interval between onset of the infection and seizures was 2.26 days, and the average number of seizures was 3.38. Eight patients had recurring seizures (23.5%), usually in the form of para-infectious or febrile seizures, and secondary seizures were observed in only one case. CONCLUSIONS: It is important to be familiar with this condition because many of these patients are initially diagnosed with an encephalitic syndrome. These seizures are usually associated with gastroenteritis, with cluster seizures and with normal later psychomotor development. The risk of developing secondary seizures developmentally is low.

Crisis parainfecciosas en el niño: estudio retrospectivo de 34 casos / Para-infectious seizures in children: a retrospective study of 34 cases

Las crisis parainfecciosas son crisis convulsivas afebriles que se asocian a procesos infecciosos banalesy tienen un buen pronóstico global. Objetivo. Conocer la historia natural de las crisis parainfecciosas en el niño. Pacientes y métodos. Estudio retrospectivo de los niños ingresados en nuestro hospital entre enero de 2000 y enero de 2005 con crisis convulsivas asociadas a un proceso infeccioso que no cumplían los criterios de las crisis convulsivas febriles. Se analizaron:edad, sexo, estación del año, antecedentes personales y familiares, tipo de infección, la semiología de la crisis, las exploraciones complementarias, tratamientos empleados y la evolución. Resultados. Se encontraron 22 niñas y 12 niños con edades comprendidas entre 6 y 38 meses (media: 20,26 ± 8,29 meses) con un desarrollo psicomotor previo normal. Tres de ellos tenían antecedentes familiares de epilepsia y tres más presentaban crisis febriles previas. Veintitrés niños desarrollaron crisis convulsivas asociadas a una gastroenteritis y 11 a una infección del tracto respiratorio superior. El intervalo promedioentre el inicio de la infección y la crisis fue de 2,26 días, y el número promedio de crisis, de 3,38. Ocho pacientes presentaron recurrencia de las crisis convulsivas (23,5%), habitualmente como crisis parainfecciosas o crisis febriles, y tan sólo en un casocomo crisis no provocadas. Conclusiones. Es importante conocer esta entidad dado que a muchos de estos pacientes se les diagnostica inicialmente síndrome encefalítico. Estas crisis suelen asociarse a gastroenteritis, con agrupación de crisis y conun desarrollo psicomotor posterior normal. El riesgo de presentar crisis no provocadas de forma evolutiva es bajo

Para-infectious seizures are afebrile convulsions that are associated with banal infectious processesand have a good overall prognosis. Aim. To determine the natural history of para-infectious seizures in children. Patients and methods. We conducted a retrospective study of children who were admitted to our hospital between January 2000 and January 2005 with seizures associated to an infectious process that did not satisfy the criteria of febrile seizures. Datacollected included age, sex, season of the year, personal and familial history, type of infection, symptoms of the seizures, complementary examinations, treatments that were used and progression. Results. The sample finally included 22 girls and 12boys with ages ranging from 6 to 38 months (mean: 20.26 ± 8.29 months) and previous psychomotor development was seen to be normal. Three of them had a family history of epilepsy and three others had suffered previous febrile seizures. Twenty-three children developed seizures associated to gastroenteritis and in 11 cases they were linked to upper respiratory infections. Theaverage interval between onset of the infection and seizures was 2.26 days, and the average number of seizures was 3.38. Eight patients had recurring seizures (23.5%), usually in the form of para-infectious or febrile seizures, and secondaryseizures were observed in only one case. Conclusions. It is important to be familiar with this condition because many of these patients are initially diagnosed with an encephalitic syndrome. These seizures are usually associated with gastroenteritis, withcluster seizures and with normal later psychomotor development. The risk of developing secondary seizures developmentally is low

Carcinoma micropapilar infiltrante de la mama y biopsia del ganglio centinela / Infiltrating micropapillary carcinoma of the breast and sentinel lymph node biopsy

Objetivo: Las características histopatológicas del tumorpueden hacer que no sea posible la práctica de la biopsia delganglio centinela (BGC). El propósito de este estudio es evaluarla aplicación y los resultados de esta técnica en pacientescon carcinoma micropapilar infiltrante (CMI) de la mama.Pacientes y método: Durante los últimos siete años ennuestro centro se ha efectuado la BGC en 294 pacientes y sehan diagnosticado 37 CMI. Se trata de un estudio retrospectivode la técnica utilizada para la estadificación ganglionar enestas pacientes. Los resultados de la BGC en pacientes conCMI se comparan con los resultados de esta técnica en pacientescon otros tipos histológicos de cáncer de mama.Resultados: La BGC sólo pudo efectuarse en 8 (22%) delas pacientes con CMI. Cuatro presentaron metástasis, unamicrometástasis y dos células tumorales aisladas (CTA). Ensólo una de las pacientes se detectaron más ganglios afectadosen el resto de la linfadenectomía. En aquellas pacientes en lasque no se pudo realizar la BGC, las principales contraindicacionesfueron: el diagnóstico prequirúrgico de afectación ganglionarmediante punción aspiración con aguja fina guiadaecográficamente y la multifocalidad.Conclusiones: La BGC puede realizarse en pocas ocasionesen pacientes con CMI. Cuando esta puede efectuarse, elporcentaje de metástasis es alto aunque con frecuencia el centinelaes el único ganglio afectado

Objective: Hystopatologic tumor characteristics can carryfailure in the practice of sentinel lymph node (SLN) biopsy.The aim of this study is to evaluate the application and the resultsof this technique in patients with infiltrating micropapillarycarcinoma (IMPC) of the breast.Patients and method: During the last seven years in ourcenter SLN biopsy has been performed in 294 patients and37 IMPC have been diagnosed. This is a retrospective study ofthe technique used for nodal staging in these patients. The resultsof SLN biopsy in those patients with IMPC were comparedwith the results of this technique in patients with other histologicaltypes of breast cancer.Results: SLN biopsy could be done in only 8 (22%) patientswith IMPC. Four had metastases, one micrometastasisand two isolated tumor cells. Only one patient showed morelymph nodes involved in the axilla. In those patients in whomthe SLN biopsy could not be done, positive fine needle aspirationunder ulltrasonographic guidance and multifocal breast involvementwere the main contraindications.Conclusions: SLN biopsy is infrequently indicated in thosepatients with IMPC and, when performed, the percentageof lymph node metastasis is high but mostly limited to SLN

Intact glycans from cestode antigens are involved in innate activation of myeloid suppressor cells.

During helminthic infections, strong Th2 type-biased responses concomitant with impaired cell-proliferative responses to parasitic and unrelated antigens are major immunological hallmarks. Parasite glycan structures have been proposed to play a role in modulating these responses. To understand early events related to immune modulation during cestode infection, we have examined the role of intact glycans of antigens from Taenia crassiceps in the recruitment of innate cells. Soluble antigens from this cestode contained higher levels of carbohydrates than proteins. Intraperitoneal injection of the antigens rapidly recruited a cell population expressing F4/80(+)/Gr-1(+)surface markers, which adoptively suppressed naïve T-cell proliferation in vitro in response to anti-CD3/CD28 MAb stimulation in a cell-contact dependent manner. Soluble antigens with altered glycans by treatment with sodium periodate significantly reduced the recruitment of F4/80(+)/Gr1(+)cells, concomitantly their suppressive activity was abrogated, indicating that glycans have a role in the early activation of these suppressor cells. Using C3H/HeJ and STAT6-KO mice, we found that expansion and suppressive activity of F4/80(+)Gr1(+)cells induced by T. crassiceps intact antigens was TLR4 and Th2-type cytokine independent. Together with previous studies on nematode and trematode parasites, our data support the hypothesis that glycans can be involved on a similar pathway in the immunoregulation by helminths.

High-polarity Mycobacterium avium-derived lipids interact with murine macrophage lipid rafts.

Cholesterol- and sphingolipid-rich membrane microdomains (lipid rafts) are widely recognized as portals for pathogenic micro-organisms. A growing body of evidence demonstrates mobilization of host plasma cell membrane lipid rafts towards the site of contact with several pathogens as well as a strict dependence on cholesterol for appropriate internalization. The fate of lipid rafts once the pathogen has been internalized and the nature of the pathogen components that interact with them is however less understood. To address both these issues, infection of the J774 murine cell line with Mycobacterium avium was used as a model. After demonstrating that M. avium induces lipid raft mobilization and that M. avium infects J774 by a cholesterol-dependent mechanism, it is shown here that mycobacterial phagosomes harbour lipid rafts, which are, at least in part, of plasma cell membrane origin. On the other hand, by using latex microbeads coated with any of the three fractions of M. avium-derived lipids of different polarity, we provide evidence that high-polarity, in contrast to low-polarity and intermediate-polarity, mycobacterial lipids or uncoated latex beads have a strong capacity to induce lipid raft mobilization. These results suggest that high-polarity mycobacterial lipid(s) interact with host cell cholesterol-enriched microdomains which may in turn influence the course of infection.

Importancia de la inestabilidad microsatélite en tumores borderline y carcinomas de ovario / Relevance of microsatellite instability in borderline tumors and ovarian carcinoma. AEBM reference 2003 award

El objetivo de nuestro estudio es determinar la inestabilidad de seis microsatélites (BAT25, BAT26, NME1, D17S250, D5S346 Y D2S123) y observar si está implicada en el desarrollo de los tumores esporádicos de ovario. El trabajo se ha realizado en 40 pacientes intervenidas quirúrgicamente por tumor de ovario esporádico. La comprobación de la inestabilidad se realizó por comparación del tejido sano y tumoral de cada una de las pacientes. Sólo se encontró inestabilidad en: inestabilidad en BAT26 en tumor borderline, inestabilidad en BAT25 en cistoadenocarcinoma de células claras e inestabilidad en NME1 encistoadenocarcinoma papilar seroso en diferentes pacientes. La inestabilidad microsatélite no parece estar implicada en la aparición o desarrollo de los tumores esporádicos de ovario (AU)