Epilepsias generalizadas idiopáticas: análisis de 101 pacientes / Idiopathic generalized epilepsies: Analysis of 101 patients

Introducción: Las epilepsias generalizadas idiopáticas (EGI) son un síndrome electroclínico que comprende 4 subsíndromes según la clasificación de la ILAE 2017. El pronóstico a largo plazo de estos síndromes es incierto debido a la escasez y a la heterogeneidad de los estudios. El objetivo de este trabajo es analizar el pronóstico a largo plazo de estos síndromes, el tratamiento farmacológico y la recurrencia de crisis.MétodosEstudio observacional y retrospectivo de una serie de pacientes diagnosticados de EGI. Se recogieron variables demográficas, tratamiento farmacológico, libertad de crisis y recurrencia tras su retirada.ResultadosIncluimos 101 pacientes, la mayoría mujeres (56,4%), con una mediana de evolución de la epilepsia de 17 años (rango intercuartílico: 7-31). El síndrome más frecuente fue la epilepsia mioclónica juvenil (46,5%), seguido de la epilepsia con solo crisis tónico-clónicas generalizadas (25,7%), la epilepsia de ausencia juvenil (13,9%) y la epilepsia de ausencia infantil (13,9%). Un 71,29% estaba en monoterapia y un 20,79% en politerapia, con diferencias entre los diferentes síndromes (p=0,001). El fármaco más utilizado fue el ácido valproico. El 39,6% presentaba remisión de crisis a los 5 años, pero no observamos diferencias significativas entre los diferentes síndromes (p=0,982). La tasa de recurrencia fue del 71,4% tras retirada de tratamiento.ConclusionesLa epilepsia mioclónica juvenil fue el subtipo de EGI más frecuente. Observamos diferencias significativas en cuanto a politerapia entre los diferentes síndromes, aunque no en las tasas de remisión al año y a los 5 años. La mayoría de pacientes a los que se retiró la medicación antiepiléptica recidivaron. (AU)

Introduction: Idiopathic generalized epilepsies (IGI) are an electroclinical syndrome that includes four subsyndromes according to the ILAE 2017 classification. The long-term prognosis of these syndromes is uncertain due to the scarcity and heterogeneity of the studies. The objective of this study is to analyze the long-term prognosis of these syndromes, pharmacological treatment and the seizure recurrence.MethodObservational and retrospective study of a serie of patients diagnosed with EGI. Epidemiological variables, pharmacological treatment, freedom of seizures and recurrence after withdrawal of treatment were collected.ResultsWe included 101 patients, the majority women (56.4%), with a median evolution of epilepsy of 17 years (interquartile range: 7–31). The most frequent syndrome was juvenile myoclonic epilepsy (46.5%), followed by epilepsy with generalized tonic–clonic seizures alone (25.7%), juvenile absence epilepsy (13.9%) and childhood absence epilepsy (13.9%). The 71.29% were on monotherapy and 20.79% on polytherapy, with significant differences between the different syndromes (P=.001). The most widely used drug was valproic acid. 39.6% presented seizure remission at 5 years, but we did not observe significant differences between the different syndromes (P=.982). The recurrence rate was 71.4% after withdrawal of treatment.ConclusionJuvenile myoclonic epilepsy was the most frequent subtype of IGE. We observed significant differences in terms of polytherapy in the different syndromes, although not in the rates of remission of seizures at one year and at five years. The majority of patients with treatment withdrawal relapsed. (AU)

Accuracy and prognostic impact of FDG PET/CT and biopsy in bone marrow assessment of follicular lymphoma at diagnosis: A Nation-Wide cohort study.

BACKGOUND: In the workup of follicular lymphoma (FL), bone marrow biopsy (BMB) assessment is a key component of FLIPI and FLIPI2, the most widely used outcome scores. During the previous decade, several studies explored the role of FDG-PET/CT for detecting nodal and extranodal disease, with only one large study comparing both techniques. METHODS: The aim of our study was to evaluate the diagnostic accuracy and the prognostic impact of both procedures in a retrospective cohort of 299 FL patients with both tests performed at diagnosis. In order to avoid a collinearity bias, FLIPI2 was deconstructed in its founding parameters, and the bone marrow involvement (BMI) parameter separately included as: a positive BMB, a positive PET/CT, the combined "PET/CT and BMB positive" or "PET/CT or BMB positive". These variables were also confronted independently with the POD24 in 233 patients treated with intensive regimens. RESULTS: In the total cohort, bone marrow was involved in 124 and 60 patients by BMB and PET/CT, respectively. In terms of overall survival, age > 60 y.o. and the combined "PET/CT or BMB positive" achieved statistical independence as a prognostic factor. In patients treated with an intensive regimen, only the combined "PET/CT or BMB positive" added prognostic value for a shorter overall survival, when confronted with the POD24. CONCLUSION: Our results show that in FL both BMB and PET/CT should be considered at diagnosis, as their combined assessment provides independent prognostic value in the context of the most widely use clinical scores.

[Idiopathic generalized epilepsies: Analysis of 101 patients]. / Epilepsias generalizadas idiopáticas: análisis de 101 pacientes.

INTRODUCTION: Idiopathic generalized epilepsies (IGI) are an electroclinical syndrome that includes four subsyndromes according to the ILAE 2017 classification. The long-term prognosis of these syndromes is uncertain due to the scarcity and heterogeneity of the studies. The objective of this study is to analyze the long-term prognosis of these syndromes, pharmacological treatment and the seizure recurrence. METHOD: Observational and retrospective study of a serie of patients diagnosed with EGI. Epidemiological variables, pharmacological treatment, freedom of seizures and recurrence after withdrawal of treatment were collected. RESULTS: We included 101 patients, the majority women (56.4%), with a median evolution of epilepsy of 17 years (interquartile range: 7-31). The most frequent syndrome was juvenile myoclonic epilepsy (46.5%), followed by epilepsy with generalized tonic-clonic seizures alone (25.7%), juvenile absence epilepsy (13.9%) and childhood absence epilepsy (13.9%). The 71.29% were on monotherapy and 20.79% on polytherapy, with significant differences between the different syndromes (P=.001). The most widely used drug was valproic acid. 39.6% presented seizure remission at 5 years, but we did not observe significant differences between the different syndromes (P=.982). The recurrence rate was 71.4% after withdrawal of treatment. CONCLUSION: Juvenile myoclonic epilepsy was the most frequent subtype of IGE. We observed significant differences in terms of polytherapy in the different syndromes, although not in the rates of remission of seizures at one year and at five years. The majority of patients with treatment withdrawal relapsed.

Drug-to-drug interactions of tyrosine kinase inhibitors in chronic myeloid leukemia patients. Is it a real problem?

With tyrosine kinase inhibitors (TKI), chronic myeloid leukemia (CML) patients are achieving similar rates of survival to the general population and some treatment aspects such as adherence and drug-to-drug interactions (DDI) are becoming increasingly important. Our aim was to investigate the frequency and real clinical consequences of DDI between TKI and concurrent medications in CML. We performed a retrospective multicenter study including 105 patients receiving 134 TKI treatments. Sixty-three patients (60%) had at least one potential DDI. The mean number of concomitant medications was 4.8 (0-19). The mean number of DDI by TKI treatment was 1.2 (0-8); it increased with the number of concomitant medications and age in a significant manner. A total of 159 DDI were detected, involving 55 different drugs. The most common drug classes involved were proton pump inhibitors, statins, and antidepressants. A DDI-related clinical effect (toxicity and/or lack of efficacy) was suspected during the common course of patient follow-up in only five patients (4.7%). This number increased to 20% when data were centrally reviewed. Most of the adverse events (AE) attributed to DDIs were mild. The most common were diarrhea, vomiting, edema, cramps, and transaminitis. Nilotinib and dasatinib showed a tendency towards a higher risk of DDI compared with imatinib. There were no significant differences in AE frequency or in treatment response between patients with or without DDI. Due to their frequency, and their potential to cause clinically relevant effects, DDI are an important aspect of CML management.

Repensando la discapacidad intelectual: un profesor, una familia y un hijo excepcional / Rethinking intellectual disability: a professor, a family and an exceptional child

No disponible