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R Peraita-Adrados

Publications and source records attributed to R Peraita-Adrados.

12 recordsLinked to original sources
PubMed2002

Kleine-Levin syndrome: an autoimmune hypothesis based on clinical and genetic analyses.

BACKGROUND: Kleine-Levin syndrome (KLS) is a rare disorder of unknown etiology. Pathophysiologic hypotheses include a hypothalamic dysfunction and abnormalities in the central serotonin and dopamine metabolism. Several clinical symptoms also suggest an underlying autoimmune process. OBJECTIVE: To systematically investigate patients with KLS with reference to the available hypotheses. METHODS: The authors collected clinical, polysomnographic, CSF, CT, and MRI records and analyzed gene polymorphisms of HLA-DQB1, tryptophan hydroxylase (TpH), and catechol-O-methyltransferase (COMT) in 30 unrelated patients with KLS and their families. The genotype data were contrasted with data from a normal control population. RESULTS: Only human leukocyte antigen (HLA)-DQB1*0201 allele frequency was significantly increased in patients with KLS. Three patients with KLS but none of the control subjects were DQB1*0201 homozygous. Two affected subjects from the same family were DQB1*0201 homozygous. In 17 DQB1*0201 heterozygous parents, 11 (64.7%) had transmitted this allele, suggesting a preferential transmission. CONCLUSION: These findings, together with the young age at onset, the recurrence of symptoms, and the frequent infectious precipitating factors, suggest an autoimmune etiology for Kleine-Levin syndrome.

Adolescent↗
PubMed2001

Nap polygraphic recordings after partial sleep deprivation in patients with suspected epileptic seizures.

A review of the literature shows that nap recordings make a significant contribution to epilepsy studies, providing evidence of specific EEG findings in patients suspected of having epilepsy. In addition, sleep deprivation can cause paroxysmal EEG activity and clinical seizures. We studied retrospectively 686 patients, 51.8% males and 48.2% females, who had experienced at least one episode classified from the clinical point of view as epileptic in origin. They were divided into six age groups. Patients underwent a two-hour (1 P.M.-3 P.M.) nap-video-polygraphic recording (EEG 13 channels using the standard 10-20 system, EOG, ECG, EMG and respiration), following a partial sleep deprivation (1 to 3 h) the night before. A second recording was made in 40 patients. In 35.3% of patients, a complete sleep cycle was obtained; in 64.6% sufficient light and deep NREM sleep was obtained, but not REM stage; in 9.3%, we only observed drowsiness and stage 1 of sleep, and this group was excluded from the analysis. Interictal and/or ictal epileptic discharges were observed during the first nap recording in 245 patients (40.4% of the sample). In addition, in 40 patients (11%) with normal or inconclusive first nap EEG, a second recording was able to demonstrate epileptic abnormalities in 35% of cases. Because of its good cost/benefit ratio and availability in most western laboratories, we consider the 'nap plus partial sleep deprivation' method as advantageous over other activation procedures.

Adolescent↗
PubMed2000

[Sleep and respiratory disorders in myotonic dystrophy of Steinert].

BACKGROUND: It has been hypothesized that hypersomnia and sleep related respiratory impairment are both central in origin in myotonic dystrophy. OBJECTIVE: To describe by means of video-polysomnographic recordings the central origin of the sleep respiratory disorders. PATIENTS AND METHODS: We studied 11 patients, 6 men and 5 women (mean age 42.7 years) with myotonic dystrophy. A moderate to severe ventilatory impairment of a primarily restrictive type was seen in all patients, three of them after the first episode of respiratory insufficiency. The patients were evaluated in order to determine their body mass index and presence of sleep-related complaints. Video-polysomnographic recordings (EEG, EOG, EKG, submental and tibialis anterior EMGs, respiration and Sa02) and pulmonary function tests were performed in each patient. Identical recordings were repeated in six cases, which were to undergo non-invasive bi-level ventilation (BiPAP) in order to adjust the inspiratory and expiratory pressures and the machine mode. RESULTS: We found slight hypopnea and apnea, predominantly of a central type, in stage 1 and REM sleep and alveolar hypoventilation in all patients. Sleep was disrupted and the efficiency index was very low. In three patients HLA typing showed a positive DQ6 haplotype. Six patients were treated with n-BiPAP. CONCLUSION: Nasal-BIPAP should be considered as an alternative in ventilatory support during sleep in these patients and video-polysomnography as a valid method of evaluating the ideal time to start treatment.

Adult↗
PubMed1999

[Sleep as a method of the study of epilepsy].

It has been well known from the literature that sleep and epilepsy have strong reciprocal influences and this is true for all kinds of epilepsies. The electroencephalographic paroxysmal activity increases in slow wave sleep and the localization of the primary epileptogenic area is more reliable in paradoxical sleep. The video-polygraphic recording is a mandatory methodology in the study of the different types of epilepsies.

Electroencephalography↗
PubMed1999

Narcolepsy-cataplexy syndrome associated with DRB1*0806-DQB*0602 haplotype in a Caucasian patient.

Narcolepsy-Cataplexy (NC) is a neurological disorder associated with the human leukocyte antigen HLA DR2. This is a prerequisite for the disease in 95 to 98% of Caucasian patients. It has been demonstrated that the HLA DQB1*0602 allele is a better marker for narcolepsy than DRB1*1501 (DR2). We present a DR-negative and DQB1*0602-positive Caucasian Spanish patient with a very unusual genotype. A 20-year-old male presented with a 12-year history of excessive daytime sleepiness and sudden muscle weakness caused by laughter and disturbed nocturnal sleep. He had never presented hypnagogic hallucinations or sleep paralysis. The family history was negative. Physical and neurological examinations were normal. The Epworth Sleepiness Scale score was 21/24, The Ullanlinna Scale score was 20/40. The polysomnographic recording showed short sleep latency, increased percentage of stage 1 (St 1), increased number of body movements and decreased sleep efficiency index. MSLT data: mean sleep latency of 1 minute and three sleep onset rapid eye movement (REM) periods (SOREMPs). HLA phenotype: A1, A11; Cw5, Cw7; B44, B39; Bw4, Bw6; DR4, DR8; DR53; DQ6, DQ8 and at the gene level: DRB1*0402, DQB1*0302; DRB1*0806, DQB1*0602. The DRB1*0806 and DQB1*0602 genotype is very infrequent in NC and identical to one African-American case in the series by Mignot et al. (1997a), and to a Caucasian case in another series by Mignot et al. (1997b). This indicates the genetic heterogeneity of the NC.

Adult↗
PubMed1998

[Epilepsy and sleep apnea syndrome].

INTRODUCTION: The reciprocal influence between Epilepsy and Sleep Apnea Syndrome (SAS/OSAS) may aggravate the prognosis of both processes. Hypoxemia during sleep in patients with SAS and sleep fragmentation as a consequence of periodic apneas, that provokes a chronic sleep deprivation, could decrease the convulsive threshold in epileptic patients. MATERIAL AND METHODS: We have carried out a descriptive and retrospective study in 20 patients with epilepsy and SAS, of which EEG recordings, video-polysomnography (PSG) and nocturnal oximetry were available. RESULTS: 90% were males. 75% had partial epilepsies and 25% generalized. The mean duration of epilepsy was 14.5 years. The mean seizures frequency was one per month. 35% had nocturnal seizures, 15% diurnal and 50% of the patients had diurnal and nocturnal seizures. Other symptoms associated with seizures were: Snoring (100%), daytime sleepiness (70%), nocturnal respiratory pauses (30%), arterial hypertension (30%), overweight (25%) and morning headache (15%). The PSG showed epileptic interictal discharges in 95% of the cases, focal in 80%, and a disturbance of the sleep architecture, with a decreased sleep efficiency and continuity. The mean hypopnea-apnea index was 38. CONCLUSIONS: The association Epilepsy-SAS in adult patients affected of localized epilepsy, with risk factors for SAS (male gender, obesity, snoring, adverse effects of drugs) must be taken into account and a video-PSG-oximetric study is indicated to confirm it. It should be noted that anticonvulsant therapy could cause breathing dysfunction during sleep or aggravate a pre-existing or latent SAS. It be expected that the satisfactory treatment of SAS could improve the control of the seizures in these patients.

Adolescent↗
PubMedDate not supplied

[Epilepsy and sleep-wake cycle].

INTRODUCTION: Sleep and epilepsy have strong reciprocal influences and this is true for all kinds of epilepsies. The interictal paroxysmal activity increases in slow wave sleep and the localization of the primary epileptogenic area is more reliable in paradoxical sleep. DEVELOPMENT: From a practical point of view, an all-night sleep recording or a short-term sleep EEG recording during daytime, preceded or not by sleep deprivation, are both convenient procedures for the diagnosis and for evaluating the prognosis of epilepsy. Aldrich et al have reported the usefulness of video-EEG polysomnography in the diagnosis of nocturnal seizures versus non-epileptic manifestations such NREM/REM dyssomnias, even in patients with no known history of epilepsy. Sleepiness and nocturnal sleep disturbances have long been recognized in epileptic patients. A review of the literature shows a high incidence of sleep complaints among epileptics. The interaction of epilepsy, antiepileptic drugs and the sleep-wake cycle has been extensively investigated.

Electroencephalography↗
PubMedDate not supplied

[Advances in sleep disorders].

OBJECTIVE: This review aims to offer a panoramic overview of the most common sleep disorders, the methodology of the study, their clinical and physiopathological aspects and their treatment. DEVELOPMENT: First, we give a brief overview of the methodology of the study of sleep/wakefulness with examinations which are considered essential today. Next, and following the International Classification, we describe sleep disorders which require the knowledge of a physician specialized in sleep pathology: insomnia, hypersomnia, circadian rhythm disorders and parasomnias. We also describe conditions related to sleep or worsened during sleep (snoring, apneas, cardiovascular disorders, etc.), the study of which requires the collaboration of a large number of specialists. CONCLUSION: The study of sleep and wakefulness disorders is clearly a branch of medicine due to the high prevalence of these disorders in the general population, their morbidity and their negative consequences in social and working life, especially as a cause of road and workplace accidents.

Circadian Rhythm↗