Different relationships between epilepsy syndromes and autoimmune diseases.

Objective: Our objective was to study the relationship between epilepsy and autoimmune diseases in two different types of epilepsy: idiopathic generalized epilepsies (IGEs) and mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS). The contribution of the human leukocyte antigen (HLA) system to this relationship was analyzed.

Methods: Adult patients with IGEs and MTLE-HS at a tertiary epilepsy center were consecutively enrolled between January 2016 and December 2020.

Effects of antiepileptic drugs on sleep architecture parameters in adults.

Objectives: Physiological and restorative sleep is fundamental for physical and mental well-being. Polysomnography parameters are objective methods to access sleep structure. Antiepileptic drugs (AEDs) are a group of drugs whose interference in the sleep structure is still not well known, especially in what concern the new ones.

Idling for Decades: A European Study on Risk Factors Associated with the Delay Before a Narcolepsy Diagnosis.

Purpose: Narcolepsy type-1 (NT1) is a rare chronic neurological sleep disorder with excessive daytime sleepiness (EDS) as usual first and cataplexy as pathognomonic symptom. Shortening the NT1 diagnostic delay is the key to reduce disease burden and related low quality of life. Here we investigated the changes of diagnostic delay over the diagnostic years (1990-2018) and the factors associated with the delay in Europe.

Female preponderance in genetic generalized epilepsies.

Introduction: Epilepsy is more prevalent in men but Genetic Generalized Epilepsies (GGE) seem to be more common in women. A predominant maternal inheritance has been previously described in GGE. Our objective was to determine sex and inheritance patterns in a GGE population compared to mesial temporal lobe epilepsy with hippocampal sclerosis (MTLEHS).

Immunogenetic protective factors in Genetic Generalized Epilepsy.

Background: Genetic Generalized Epilepsies (GGEs) are a heterogeneous group of syndromes characterized by generalized seizure activity that affects both hemispheres, with mainly genetic causes. Neuroinflammation has been established as an important mechanism in epileptogenesis. The ability to develop an appropriated immune response is strongly determined by immunogenetic factors.

Apolipoprotein E isoforms and susceptibility to genetic generalized epilepsies.

Apolipoprotein E (ApoE) is the main lipoprotein secreted in brain. It has a critical immunomodulatory function, influences neurotransmission and it is involved in repairing damaged neurons. ApoE e4 is an isoform of ApoE with altered function, and was previously associated with early onset epilepsy and refractoriness, both in animal models and in patients with focal epilepsies.

Exploring the clinical features of narcolepsy type 1 versus narcolepsy type 2 from European Narcolepsy Network database with machine learning.

Narcolepsy is a rare life-long disease that exists in two forms, narcolepsy type-1 (NT1) or type-2 (NT2), but only NT1 is accepted as clearly defined entity. Both types of narcolepsies belong to the group of central hypersomnias (CH), a spectrum of poorly defined diseases with excessive daytime sleepiness as a core feature. Due to the considerable overlap of symptoms and the rarity of the diseases, it is difficult to identify distinct phenotypes of CH.

Brain expression of inflammatory mediators in Mesial Temporal Lobe Epilepsy patients.

Neuroinflammation may be central in epileptogenesis. In this study we analysed inflammatory reaction markers in brain tissue of Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis (MTLE-HS) patients. TLR4, IL-1β and IL-10 gene expression as well as the presence of activated HLA-DR+ microglia was evaluated in 23 patients and 10 cadaveric controls.

Immunogenetic predisposing factors for mesial temporal lobe epilepsy with hippocampal sclerosis.

Purpose: Neuroinflammation appears as an important epileptogenic mechanism. Experimental and clinical studies have demonstrated an upregulation of pro-inflammatory cytokines such as IL-1β and TNF-α, in mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS). Expression of these cytokines can be modulated by polymorphisms such as rs16944 and rs1800629, respectively, both of which have been associated with febrile seizures (FS) and MTLE-HS development.

Is lower urinary tract dysfunction an early marker of Portuguese type familial amyloidotic polyneuropathy in women? Preliminary results.

Type 1 Portuguese Familial Amyloid Polyneuropathy was first observed in 1939 and described in 1951 by Corino Andrade. FAP is a rare autosomal dominant disease caused by a mutant gene in chromosome 18, characterized by a variant transthyretin in which valine is substituted for methionine at position 30 (ATTR V30M), affecting mainly young adults. ATTR V30M positivity does not imply disease, but the disease is only present with ATTR V30M in serum.

Psychosocial factors as predictors of quality of life in chronic Portuguese patients.

Background: Chronic illnesses are diseases of long duration and generally of slow progression. They cause significant quality of life impairment. The aim of this study was to analyse psychosocial predictors of quality of life and of subjective well-being in chronic Portuguese patients.

Compliance to continuous positive airway pressure therapy in a group of Portuguese patients with obstructive sleep apnea syndrome.

Introduction: Obstructive sleep apnea-hypopnea syndrome (OSAHS) is an emerging public health concern. Although different treatments for OSAHS had been proposed, continuous positive airway pressure (CPAP) is the first-line treatment in moderate to serious OSAHS in which success can be achieved by increasing compliance to CPAP.

Materials And Methods: This study analyzes long-term CPAP compliance in patients with OSAHS on CPAP therapy for at least 1 month, who began CPAP therapy between January 2004 and December 2006, followed up at a Portuguese Sleep Outpatient Clinic in Santo António Hospital.

Task-specific contribution of the human striatum to perceptual-motor skill learning.

Acquisition of new perceptual-motor skills depends on multiple brain areas, including the striatum. However, the specific contribution of each structure to this type of learning is still poorly understood. Focusing on the striatum, we proposed (a) to replicate the finding of impaired rotary pursuit (RP) and preserved mirror tracing (MT) in Huntington's disease (HD); and (b) to further explore this putative learning dissociation with other human models of striatal dysfunction (i.

Neuropsychological predictors of quality of life in focal epilepsy.

Spontaneous complaints of outpatients with focal epilepsy often stress the relationship between cognitive deficits and Quality of Life (QOL). Consequently, the aim of the present study was to find the best neuropsychological predictors of QOL in individuals with focal epilepsy, in order to guide their ambulatory health care. A sample of 71 Portuguese patients was studied: 40 female, 47 married, with a mean age of 37.

The contribution of spirituality to quality of life in focal epilepsy.

People with epilepsy of comparable severity may differ widely in quality of life (QOL), suggesting a role for unexplored individual aspects. This study considered the possible role of spirituality. Thirty-two patients with focal epilepsy completed scales for QOL (World Heath Organization QOL, WHOQOL 100), spirituality (WHO Spirituality, Religiousness, and Personal Beliefs), depression, anxiety, and cognitive efficiency, as well as neuropsychological testing.

What does an epileptiform spike look like in MEG? Comparison between coincident EEG and MEG spikes.

Recent investigations suggest that there are differences between the characteristics of EEG and MEG epileptiform spikes. The authors performed an objective characterization of the morphology of epileptiform spikes recorded simultaneously in both EEG and MEG to determine whether they present the same morphologic characteristics. Based on a stepwise approach, the authors performed a computer analysis of EEG and MEG of a set of coincident epileptiform transients selected by a senior clinical neurophysiologist in recordings of three patients with drug-resistant epilepsy.