Publications by authors named "Peraita-Adrados R"
Prospective study of restless legs syndrome in a blood donors' sample.
Rev Clin Esp (Barc)
January 2025
Background And Objectives: Blood donation is suggested to increase the risk of restless legs syndrome (RLS). This study aims to assess the prevalence of RLS in Spanish blood donors and determined its potential correlation with iron metabolism parameters.
Materials And Methods: Prospective cohort study of 129 blood donors (54.
Article Synopsis
- * Researchers analyzed data from over 1500 patients and found that women reported higher sleepiness on the Epworth Sleepiness Scale compared to men, with specific age-related trends observed in different patient groups.
- * Notably, in women with narcoleptic conditions, an increase in daytime sleepiness was linked to age, while weight gain appeared later, suggesting a complex relationship that warrants further research for targeted treatment approaches.
Introduction: We present a narcolepsy type 1 patient that develop an autoimmune encephalitis post vaccine and/or a SARS-CoV-2 infection.
Case Report: At 23 years old, the patient was referred to the emergency room with difficult speaking, headache and tremor followed by changes in behavior, autonomic dysfunction, right focal motor seizure and lethargy. He has received seven weeks before mRNA-1273 (Moderna) vaccine followed by a SARS-CoV-2 infection four weeks after vaccination (positive antigen test).
The aim of the study was to present a woman affected of a narcolepsy with cataplexy (narcolepsy type 1) comorbid with an asymptomatic Primary Biliary Cholangitis (PBC). The HLA haplotype was DRB1*15:01, DQA1*01:02, DQB1*06:02. The allele DQB1*06:02 has been considered until now protective for PBC and dual pathology has not been published.
View Article and Find Full Text PDFArticle Synopsis
- * The study analyzed over 6,000 NT1 cases and identified new genetic associations (e.g., CD207, NAB1) tied to immune response, particularly involving T cells.
- * Results suggest that genetic factors in NT1 also relate to other autoimmune diseases, indicating a shared immune mechanism influenced by environmental factors like infections and vaccinations.
Introduction: Sodium oxybate (SXB) was administered for the first time in 1979 in 16 patients with narcolepsy with cataplexy (NT1) that improved up to 20 months.
Aims: To evaluate the effect of SXB on daytime sleepiness and sleep architecture by video-polysomnography in a sample of 23 NT1 adult patients (13 men, 10 females) treated up to three years. Additional goal was to study the presence of sleep comorbidities.
Background: The aim of this study was to evaluate the long-term outcome of our series of narcolepsy type 1 (NT1) patients with comorbid autoimmune diseases (ADs) and other immunopathological diseases (IDs), focusing on the incidence of new ADs and IDs in this sample.
Methods: A longitudinal observational study was conducted over 6 years (2014 - 2020) in a series of 158 Caucasians NT1 patients (96 males; mean age: 50.1 ± 19.
Article Synopsis
- Joubert syndrome is a rare disorder linked to malformations in the midbrain due to issues with the primary cilium, leading to various health challenges.
- A case study highlighted a 15-year-old boy with Joubert syndrome who experienced sleep apnea and showed multiple sleep-related issues during a sleep evaluation, despite a normal EEG.
- The findings emphasize the importance of video-polysomnography in diagnosing breathing abnormalities and motor disturbances in patients with Joubert syndrome, which can exhibit different symptoms including potential epileptic seizures.
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.
View Article and Find Full Text PDFBackground And Objectives: Recent studies fueled doubts as to whether all currently defined central disorders of hypersomnolence are stable entities, especially narcolepsy type 2 and idiopathic hypersomnia. New reliable biomarkers are needed, and the question arises of whether current diagnostic criteria of hypersomnolence disorders should be reassessed. The main aim of this data-driven observational study was to see whether data-driven algorithms would segregate narcolepsy type 1 and identify more reliable subgrouping of individuals without cataplexy with new clinical biomarkers.
View Article and Find Full Text PDFArticle Synopsis
- Memory deficits in narcolepsy with cataplexy type 1 (NT1) have been largely misunderstood, as patients often report issues that objective tests do not confirm.
- A study compared 12 NT1 patients with 14 control subjects using standard neuropsychological tests, revealing that while NT1 patients struggled with attention, their memory performance was comparable to controls.
- Significant differences were noted in depression symptom scores, suggesting that subjective memory complaints in NT1 might be linked to depression rather than an actual memory deficit.
Article Synopsis
- - Kleine-Levin syndrome (KLS) is a rare disorder causing severe episodes of sleepiness, cognitive issues, and changes in behavior, with unclear causes linked to brain activity and difficult births.
- - A global study identified a significant genetic association (rs71947865) related to KLS, particularly prevalent in patients with difficult birth histories and previously connected to bipolar disorder and schizophrenia.
- - Despite variations in findings across different sample sizes, the research highlights potential genetic and environmental factors, specifically involving circadian rhythms, that may contribute to the risk of developing KLS.
Article Synopsis
- There has been a global rise in narcolepsy type-1 (NT1) cases since the 2009-2010 H1N1 influenza pandemic, particularly noticeable in 2010, where incidence rates spiked by 2.54 times.
- This increase affected both children (2.75-fold) and adults (2.43-fold), with a subsequent rise specific to children/ adolescents in 2013 (2.09-fold) linked to an immune response rather than the vaccination.
- The findings suggest that the post-pandemic increase in NT1 may be related to both the H1N1 virus and potentially other viral factors, highlighting the need for further research into the immune mechanisms involved in narcolepsy
Objectives: The objective of our study was to assess attention processes and executive function in patients with narcolepsy with cataplexy (NT1). To do so, we compared the results with those of a control group from the general population using an extensive neuropsychological test battery.
Methods: We studied 28 patients with NT1 and 28 healthy control participants matched for age, gender, and educational level.
Introduction: The pathophysiology of restless legs syndrome (RLS) is complex. Secondary RLS with iron deficiency -which suggests disturbed iron homeostasis- remains to be elucidated.
Case Reports: We report the findings from a unique blood donor family with RLS.
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.
View Article and Find Full Text PDFAim: To describe the current state of the art about the main cognitive deficits that appear in patients affected with narcolepsy with cataplexy (NT1).
Development: The majority of the studies have found that the most impaired cognitive functions are attention (especially maintenance of attention or sustained attention), speed of information processing and executive functions (in particular, verbal fluency and resistance to the stimuli interference). These data indicate the difficulty to use the available cognitive resources of the patient.
Aims: To report a challenging patient a girl who developed narcolepsyy with cataplexy (NT1) and a psychosis during adolescence. To discuss diagnostic and therapeutic challenges of the comorbid cases.
Case Report: A 14-year-old girl was referred to Sleep and Epilepsy Unit for excessive daytime sleepiness, impaired nocturnal sleep, binge eating and weight gain, over the last year.
This was a retrospective case-control study in 25 patients with narcolepsy with cataplexy and 75 women in the control group. Patients completed the questionnaire by Maurovich-Horvat et al. (J.
View Article and Find Full Text PDFBackground: Several evidences suggest that autoimmune diseases (ADs) tend to co-occur in an individual and within the same family. Narcolepsy type 1 (NT1) is a chronic sleep disorder caused by a selective loss of hypocretin-producing neurons due to a mechanism of neural destruction that indicates an autoimmune pathogenesis, although no evidence is available. We report on the comorbidity of ADs and other immunopathological diseases (including allergy diseases) in narcolepsy.
View Article and Find Full Text PDF