Repetitive Sleep Starts in Allan-Herndon-Dudley Syndrome.

Allan-Herndon-Dudley syndrome (AHDS) is caused by mutations in the SLC16A2 gene, encoding for the monocarboxylate transporter 8 (MCT8). Central hypothyroidism and chronic peripheral thyrotoxicosis result in a severe phenotype, mainly characterized by poor growth, intellectual disability, spastic tetraparesis, and movement disorders, including paroxysmal ones (startle reaction and paroxysmal dyskinesias). Seizures are rarely reported. We conducted a retrospective analysis on video electroencephalography (EEG) recordings in four subjects with AHDS, focused on paroxysmal events. Among other manifestations recorded on EEG, we diagnosed repetitive sleep starts (RSS) in all subjects. RSS are a paroxysmal nonepileptic phenomenon occurring during sleep, similar to epileptic spasms in their clinical and electromyography characteristics, but not related to any EEG change. This is the first report on RSS in AHDS. We present video-EEG polygraphic documentation, suggesting that RSS could be underestimated or misdiagnosed. The importance of a correct diagnosis is crucial in a therapeutic perspective.

Lateral Subdermic Venous Plexus Insufficiency: The Association of Varicose Veins with Restless Legs Syndrome and Nocturnal Leg Cramps.

PURPOSE: To determine whether nocturnal symptoms of restless legs syndrome (RLS) and muscle cramps in the legs are associated specifically with lateral subdermic venous plexus (LSVP) insufficiency and whether treatment can provide symptomatic relief. MATERIALS AND METHODS: A retrospective cross-sectional observational study of 506 patients at a single site analyzed whether RLS or nighttime leg cramping symptoms were associated with venous reflux in the LSVP using comprehensive venous ultrasound. The treatment outcomes of ultrasound-guided foam sclerotherapy (USGFS) were followed up for 1 year. RESULTS: Of 209 patients who reported restless legs symptoms, 179 (85%) demonstrated an abnormal LSVP. A total of 214 patients reported nighttime muscle cramping, of whom 197 (92%) demonstrated an abnormal LSVP. Among 124 patients presenting with both the symptoms, 113 (91%) demonstrated an abnormal LSVP. Conversely, of 83 patients who presented with neither RLS nor nocturnal cramping, 2 (2%) had an abnormal LSVP. Among 242 symptomatic patients with an abnormal LSVP who underwent treatment, the technical success rate was 100%. At 90-day follow-up, 224 patients (93%) reported continued relief, which was maintained at 93% (224/242) at follow-up at 1 year. When substratified, 90 patients presented primarily with RLS or cramping and showed only LSVP reflux, and when treated, all 90 (100%) had significant or complete relief of the symptoms. CONCLUSIONS: LSVP insufficiency demonstrates an association with symptoms of RLS and nocturnal leg cramps. LSVP treatment using USGFS demonstrated high technical and clinical success rates, with symptomatic relief up to 1 year, most pronounced when the LSVP was the only treated vein.

Sleep-Related Rhythmic Movements and Sleep Terrors: A Possible Common Neurophysiological Background in a Preschool Boy.

None: We report the case of a 3-year-old boy with a history of frequent and injurious sleep-related rhythmic movements and sleep terrors. We documented six episodes of body rocking and head banging via video polysomnography. No epileptic seizures were observed. In addition to the association between a sleep movement disorder and a disorder of arousal, our case shows that sleep-related rhythmic movements can arise not only during relaxed wakefulness or during a stable sleep stage, but also during a less clearly defined sleep stage during which it is difficult to further subtype non-rapid eye movement sleep. On the contrary, the portion of sleep without rhythmic movement episodes were clearly depicted with their physiological features. These findings might be of relevance for understanding the pathophysiology of both sleep-related rhythmic movements and sleep terrors and emphasize the importance to assess sleep using polysomnography, especially when episodes are frequent and injurious. The neurophysiological information obtained from this assessment might be helpful and guide an eventual treatment option.

Sleep-related rhythmic movements and rhythmic movement disorder beyond early childhood.

INTRODUCTION: Sleep-related rhythmic movements (SRRMs) are common in young children and become less prevalent with increasing age. When SRRMs significantly interfere with sleep and/or affect daytime functioning, potentially resulting in injury, rhythmic movement disorder (SRRMD) is diagnosed. OBJECTIVE: The aim of our study was to assess clinical comorbidities, types of SRRMs, sleep stage/wakefulness distribution during night, and age-dependence of these parameters. MATERIAL AND METHODS: In sum, 45 patients (age range 1-26 years, mean age 10.56 ± 6.4 years, 29 men) were clinically examined for SRRMs or SRRMD. Nocturnal polysomnography (PSG) was recorded in 38 patients. To evaluate clinical and sleep comorbidity, the cohort of 38 patients was divided according to age into four groups: (1) younger than 5 years (N = 7), (2) 5-9 years (N = 12), (3) 10-14 years (N = 11), and (4) ≥ 15 years (N = 8). RESULTS: A clear relationship between perinatal risk factors and developmental disorders (attention deficit hyperactivity disorder - ADHD, specific learning disability) was found which extended population prevalence at least five times. A total of 62 recordings were evaluated in 38 patients; SRRMs were found in PSG in 31 of 38 patients (82%). No age-dependent correlation between type of SRRMs and sleep stage/wakefulness distribution during the night was observed. However, when all recordings were correlated together, rolling stereotypes occurred more frequently in REM sleep, and rocking stereotypes in superficial NREM sleep. CONCLUSION: Developmental disorders and perinatal risk factors were connected with SRRMs and SRRMD in children and young adults. Rolling movements were significantly associated with REM stage and rocking stereotypes with superficial NREM sleep, independent of age.

Nocturnal leg cramps: Prevalence and associations with demographics, sleep disturbance symptoms, medical conditions, and cardiometabolic risk factors.

BACKGROUND: Nocturnal leg cramps (NLC) are common and poorly understood. OBJECTIVE: To determine the prevalence of NLC and associations with cardiometabolic, sleep, and behavioral risk factors in the US population. DESIGN: Cross-sectional epidemiology. PARTICIPANTS: National Health and Nutrition Examination Survey, 2005-2006 and 2007-2008 waves. MAIN OUTCOME(S) AND MEASURE(S): NLC were assessed with, "In the past month, how often did you have leg cramps while trying to sleep?" Responses were categorized as None, Mild, or Moderate-Severe. Demographics, medical history, sleep disturbances, and cardiometabolic risk factors were evaluated using the 2005-2006 dataset. Variables that demonstrated significant relationships to NLC after adjusting for age, sex, education, and BMI were assessed in the 2007-2008 dataset. Variables that were still significant were entered into a forward stepwise regression model combining both waves, to determine which variables best explained the variance in NLC. RESULTS: Prevalence was 24-25% reporting mild and 6% reporting moderate-severe NLC. NLC increased with age, lower education, unemployment, shorter sleep duration, all assessed sleep symptoms (nocturnal "leg jerks", snoring, snorting/gasping, difficulty falling asleep, difficulty maintaining sleep, non-restorative sleep, sleepiness, use of sleep medications), higher BMI, smoking, medical history (hypertension, heart failure, angina, stroke, arthritis, respiratory disease, and cancer), depression symptoms, and biomarkers (CRP, HbA1c, calcium, cadmium, red blood cells). Stepwise analysis showed that moderate-severe nocturnal leg cramps were associated with (in decreasing order of partial R2): leg jerks, poor overall health, arthritis, difficulty falling asleep, age, nonrestorative sleep, red blood cell count, lower education, angina, and difficulty maintaining sleep. CONCLUSIONS AND RELEVANCE: Based on this first large, representative study, NLC occurring >5x per month are reported by 6% of the adult US population. Sleep disturbance symptoms and health conditions are associated with higher frequency of NLC, suggesting that NLC is a marker, and possibly contributor, to poor sleep and general health.

Sueño, insomnio y somnolencia en estudiantes de nutrición / Sleep, insomnia and somnolence in nutrition students

Fundamentos: La privación de sueño es común en diferentes grupos etarios y en especial en estudiantes universitarios, sin embargo no se ha explorado que ocurre en estudiantes de Nutrición. Por lo que el objetivo de este estudio fue determinar los factores que se asocian a la calidad de sueño en estudiantes de Nutrición y Dietética de la Universidad San Sebastián. Métodos: Se evaluó a 633 estudiantes de Nutrición y Dietética de las cuatro sedes (86,5% mujeres), a quienes se les aplicó una evaluación antropométrica y la encuestas de sueño: escala de somnolencia de Epworth, Insomnio y el Índice de calidad de sueño de Pittsburg Resultados: Se vio que el 54,9% dormía menos de lo recomendado, el 43,4% presentaba somnolencia leve, el 11,2% somnolencia severa, el 88,0% presentaba insomnio y el 76,8% mala calidad de sueño. Ser estudiante de primer año se asoció como un factor de riesgo de tener una mala calidad de sueño (OR=2,345; IC95% 1,154-4,764), en cambio desayunar (OR=0.490; IC95% 0,279-0,819), no presentar somnolencia diurna (OR=0,365; IC95% 0,213-0,628), no tener insomnio (OR=0,271; IC95% 0,145-0,506) y dormir lo adecuado (OR=0,227; IC95% 0,136-0,381) fueron factores protectores. Conclusiones: Se observa una mala calidad de sueño, insomnio y elevada somnolencia diurna, lo que hace necesario realizar intervenciones en los estudiantes universitarios para revertir este problema (AU)

Background: Sleep deprivation is common in different age groups and especially college students, however has not been explored happens in nutrition students. Therefore, the aim of this study was to determine the factors associated with quality of sleep in students of Nutrition and Dietetics at the University San Sebastián. Methods: We evaluated 633 students of Nutrition and Dietetics at the four campus (86.5% women) who were applied an anthropometric assessment and surveys sleep: Epworth sleepiness scale, Insomnia and Pittsburgh Sleep Quality Index (PSQI). Results: The 54.9% sleep less than recommended, 43.4% have mild drowsiness, 11.2% severe somnolence, 88.0% presented insomnia and 76.8% poor quality of sleep. Be a freshman was associated as a risk factor for having a poor quality of sleep (OR=2.345, 95%CI 1.154-4.764), however have breakfast (OR=0.490, 95%CI 0.279-0.819), not be sleepy day (OR=0.365, 95%CI 0.213-0.628), not having insomnia (OR=0.271, 95%CI 0.145-0.506) and adequate sleep (OR = 0.227, 95% from 0.136 to 0.381) were protective factors. Conclusions: The poor quality of sleep, insomnia and daytime sleepiness is observed high, making it necessary interventions in college students to reverse this problem (AU)

Trastorno de retraso de la fase del sueño y del despertar. Síndrome de retraso de fase / Delayed sleep wake phase disorder (DSWPD)

El trastorno de retraso de la fase del sueño y del despertar o síndrome de retraso de fase (SRF) es la alteración del ritmo circadiano de sueño más frecuente y suele manifestarse en la adolescencia. Se caracteriza por un retraso estable, habitualmente de más de dos horas, del inicio y del final del sueño respecto a los horarios convencionales. Clínicamente los pacientes presentan insomnio a la hora de acostarse, con gran dificultad para levantarse por la mañana en la hora deseada. Entre semana, debido a las obligaciones escolares o sociales, los niños con SRF duermen pocas horas, generándose una privación crónica de sueño que se manifestará con somnolencia diurna, fatiga, falta de atención, afectación del rendimiento escolar o absentismo escolar. Característicamente, el fin de semana o durante las vacaciones, cuando están libres de horarios, retrasan el sueño, siendo este de características normales y levantándose descansados. Es importante realizar un diagnóstico precoz para iniciar un tratamiento temprano que minimice las consecuencias del SRF. Por la imposibilidad de seguir unos horarios regulares de estudio ni de trabajo, son jóvenes a los que se califica de noctámbulos o de vagos, a pesar de sus esfuerzos repetidos por adaptarse a unos horarios convencionales, lo que aboca en altos índices de depresión, ansiedad y abuso de sustancias. El retraso de fase de sueño se confirma mediante las agendas de sueño, la actigrafía y los marcadores de fase circadianos. La higiene del sueño, la cronoterapia, la fototerapia y la administración de melatonina son los posibles tratamientos del SRF (AU)

Delayed sleep wake phase disorder (DSWPD) or delayed sleep phase disorder is the most frequent circadian rhythm sleep disorder and is commonly seen in adolescents. DSWPD is characterized by habitual by sleep onset and wake times that are usually delayed more than two hours relative to conventional sleep-wake times. Clinically, affected subjects experience difficulty falling asleep and arising at socially acceptable wake time. Enforced conventional wake times (during the school or working days), may result in chronically insufficient sleep manifested as excessive daytime sleepiness, fatigue, repetitive school absences with negative impact on their attention and academic performance. When allowed to follow their preferred schedule (during the weekends or vacation periods), the patient’s timing of sleep is delayed with normal and restoring sleep. It is very important to make an early diagnosis to initiate treatments that minimize consequences of DSWPD. Although their repetitive attempts to adapt to conventional times, their difficulties to maintain regular school or work timings leads these adolescents to be seen as lazy and not motivated, which usually results in an increase in mood disorders and drug abuse. Delay sleep phase is demonstrated by sleep log, actigraphy monitoring and in the timing of other circadian rhythms. Sleep hygiene, chronotherapy, bright light therapy or melatonin administration are the most habitual treatment of the DSWPD (AU)

Repercusión de la somnolencia sobre la calidad del equilibrio y la marcha / Sleepiness repercussion on gait and balance

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Parasomnia Overlap Disorder with Sexual Behaviors during Sleep in a Patient with Obstructive Sleep Apnea.

ABSTRACT: Sleep-related abnormal sexual behaviors (sexsomnia) are classified as a subtype of NREM sleep parasomnias. Sexsomnia has been reported as part of parasomnia overlap disorder (POD) in two other patients. We present the case of a 42-year-old male patient with video-polysomnography (vPSG) documented POD. The patient had sleepwalking, sleep-related eating, confusional arousals, sexsomnia, sleeptalking, and REM sleep behavior disorder (RBD). Confusional arousals and RBD were documented during the vPSG. This case had the added complexity of obstructive sleep apnea (OSA) playing a role in sleepwalking and sleep related eating, with good response to nasal continuous positive airway pressure (nCPAP). The sexsomnia did not respond to nCPAP but responded substantially to bedtime clonazepam therapy.

Importancia de la privación de sueño como mecanismo activador de paroxismos epileptiformes intercríticos / The importance of sleep deprivation as a mechanism for activating interictal epileptiform paroxysms

Introducción. Aunque la privación de sueño se ha utilizado durante años en electroencefalografía (EEG) como método de activación de descargas epileptiformes intercríticas (DEI) en pacientes con alta sospecha de epilepsia, su sensibilidad y especificidad están aún en discusión. Pacientes y métodos. Estudio descriptivo y retrospectivo de pacientes pediátricos derivados a neurofisiología clínica para valoración de epilepsia. Se han comparado los resultados de los EEG de privación de sueño (EEG-PS) con los EEG de vigilia (EEG-V) en cada paciente para describir su rendimiento como mecanismo activador de DEI. Resultados. Se han analizado 500 pacientes (830 EEG-PS y 1.018 EEG-V). En los EEG-V se detectaron DEI en el 44%. El EEG-PS aumentó en un 35% la capacidad del test para detectar las DEI. En los EEG-PS en los que se alcanzó sueño espontáneo se observaron DEI (no detectadas en el EEG-V) en un 25,1%. En el grupo de epilepsias focales se constató que el EEG-V detectó DEI en el 60,1% frente al 79,12% demostradas con el EEG-PS. En las epilepsias generalizadas esta diferencia fue más marcada (27,2% y 77,2%, respectivamente). En los pacientes en los que tras un EEG-PS no se detectaron DEI (23,7%) y la sospecha clínica de epilepsia seguía siendo alta, se realizó polisomnografía nocturna y se llegó a objetivar actividad epileptiforme intercrítica en un 13,6%. Conclusiones. El EEG-PS aumenta la posibilidad de recoger DEI en un 35% con respecto al EEG-V. La privación de sueño es un método activador de paroxismos epileptiformes, independientemente de si hay sueño o no durante la realización del EEG, aunque este efecto es más marcado en los pacientes que alcanzan sueño (AU)

Introduction. Although sleep deprivation has been used for years in electroencephalography (EEG) as a method for activating interictal epileptiform discharges (IED) in patients with a strong suspicion of epilepsy, its sensitivity and specificity are still under discussion. Patients and methods. We conducted a descriptive retrospective study of paediatric patients who were referred to a neurophysiology clinic for epilepsy assessment. The results of the sleep-deprived EEG (SD-EEG) were compared with those of the wakefulness EEG (W-EEG) carried out in each patient in order to describe the performance of each method as a mechanism for activating IED. Results. A total of 500 patients were analysed (830 SD-EEG and 1018 W-EEG). IED were detected in 44% of the W-EEG. SDEEG increased the capacity of the test to detect IED by 35%. IED (not detected in the W-EEG) were detected in 25.1% of the SD-EEG in which spontaneous sleep was achieved. In the group of focal epilepsies, it was found that W-EEG detected IED in 60.1% versus the 79.12% displayed with SD-EEG. In generalised epilepsies this difference was more marked (27.2% and 77.2%, respectively). In patients in whom no IED were detected following an SD-EEG (23.7%) and the clinical suspicion of epilepsy was still high, nocturnal polysomnography was performed and interictal epileptiform activity was observed in 13.6%. Conclusions. SD-EEG increases the chances of recording IED by 35% with respect to W-EEG. Sleep deprivation is a method for activating epileptiform paroxysms, regardless of whether the EEG is performed while sleeping or not, although this effect is more pronounced in patients who do manage to sleep (AU)

Factores asociados a la somnolencia diurna en adultos mayores chilenos / Dietary factors associated with daytime somnolence in healthy elderly of Chile

Objetivo. Determinar la prevalencia de somnolencia leve y excesiva y qué factores están asociados a la presencia de somnolencia diurna en adultos mayores. Métodos. Participaron 1.780 adultos mayores de 60 años, autónomos, de ambos sexos, de los cuales completaron toda la información 1.704 (70,9 ± 7,9 años; 62% mujeres). A cada uno de ellos se les realizó la encuesta de somnolencia de Epworth (ESE), el cuestionario de calidad de sueño de Pittsburg, además de solicitar información sobre consumo de tabaco, horario de cena, y una evaluación antropométrica. Una puntuación en ESE > 10 se consideró somnolencia y puntuaciones >15 somnolencia excesiva o severa. Resultados. Entre los menores de 80 años un 5,3% presentaron un ESE >15 y un 26,2% un ESE >10. En mayores de 80 años la prevalencia de somnolencia fue del 6,3% para ESE >15 y del 32,5% para ESE >10. En el modelo ajustado los factores asociados a incremento del riesgo de somnolencia (ESE > 10) fueron la edad mayor de 80 años (OR = 1,58; IC 95% = 1,14-2,19), y cenar después de las 21 horas (OR = 1,3; IC 95% = 1,01-1,68). Por el contrario, solo la edad mayor de 80 años se asociaba de manera independiente a somnolencia severa (OR = 1,81; IC 95% = 1,01-3,29). Conclusiones. Cenar después de las 21 horas y una edad por encima de los 80 años se asocian con mayor probabilidad de somnolencia diurna. En cambio solo la edad mayor de 80 años se asocia a somnolencia diurna severa (AU)

Aim. To determine the prevalence of mild and excessive somnolence and the associated factors with the presence of daytime sleepiness in the elderly. Methods. A total of 1780 independent individuals 60 years and olderof both sexes (70.9 ± 7.9 years old; females 62%), were included, of which 1704 of them completed all the information. All of them were assessed using an Epworth sleepiness scale (ESE), an Pittsburgh sleep quality index, plus information of cigarettes smoking, dinner time, and an anthropometric evaluation. An ESE score > 10 was considered drowsiness and scores > 15 excessive or severe drowsiness. Results. Among the population under 80 years, 5.3% showed ESE score > 15 and 26.2% an ESE score > 10. For over 80 years, the prevalence of sleepiness was 6.3% for an ESE score > 15 and 32.5% for an ESE score > 10. In the adjusted model, the factors associated with increased risk of sleepiness (ESE > 10) were age older than 80 years (OR = 1.58; 95% CI = 1.14 to 2.19) and dinner after 21 hours (OR = 1.3; 95% CI = 1.01 to 1.68). By contrast, only age older than 80 years was independently associated with severe sleepiness (OR = 1.81; 95% CI = 1.01 to 3.29). Conclusions. Meals after 21 hours and age above 80 years are associated with increased likelihood of daytime sleepiness. Instead, only older than 80 years is associated with severe daytime sleepiness (AU)

Tempo cognitivo lento: una revisión actualizada / Sluggish cognitive tempo: an updated review

Introducción. El estudio del tempo cognitivo lento (TCL) surgió en gran parte de las investigaciones del trastorno por déficit de atención/hiperactividad (TDAH). Este constructo se define con una gama de síntomas conductuales, como apariencia de somnolencia, soñar despierto, hipoactividad física, pobre iniciativa, letargo y apatía. Desarrollo. Se revisa el constructo de TCL a través de artículos recientemente publicados al respecto sobre características clínicas, síntomas asociados, evaluación, prevalencia, etiología, comorbilidad, perfiles neuropsicológicos y tratamiento. Los trabajos más actuales proponen entender el TCL como un cluster de síntomas distintivo del TDAH. Aunque no hay un consenso claro, los datos son cada vez más consistentes y dotan de gran validez externa al TCL, asociándolo con síntomas internalizantes. Conclusiones. Consideramos necesario anclar los diferentes subtipos de TDAH en modelos conceptuales atencionales. Así, la red de orientación atencional se relacionaría con el TCL, la red de vigilancia o atención sostenida con el TDAH subtipo inatento, y la atención ejecutiva sería la implicada en el TDAH subtipo combinado. La evidencia hasta la fecha, incluyendo esta revisión, apoya la idea de que el TCL es un trastorno de atención diferenciado del TDAH, pero que, como cualquier trastorno dimensional, puede solaparse con él aproximadamente en la mitad de los caso (AU)

Introduction. The study of sluggish cognitive tempo (SCT) arose largely from research carried out on attention deficit hyperactivity disorder (ADHD). This construct is defined by a range of behavioural symptoms such as the appearance of drowsiness, daydreaming, physical hypoactivity, little initiative, lethargy and apathy. Development. The construct of SCT is reviewed by means of recently published papers on its clinical characteristics, associated symptoms, evaluation, prevalence, aetiology, comorbidity, neuropsychological profiles and treatment. The latest studies propose that SCT should be understood as a cluster of symptoms that is distinct from ADHD. Although there is no clear consensus on the matter, the evidence is becoming increasingly more consistent and endows SCT with a high degree of external validity, associating it with internalising symptoms. Conclusions. We believe the different subtypes of ADHD must be grounded in attentional conceptual models. Hence, the attentional guidance network would be related with SCT, the vigilance or sustained attention network would be linked with the inattentive subtype of ADHD, and executive attention would be involved in the combined subtype of ADHD. The evidence obtained to date, including this review, supports the idea that SCT is an attention disorder distinct from ADHD but, like any dimensional disorder, it can overlap with it in around half the cases (AU)

Crisis hipertensiva en paciente con lesión medular / Hypertensive crisis in a patient with a medullary lesion

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Síndrome de Charles Bonnet desencadenado por brimonidina en paciente con neuropatía óptica hereditaria de Leber / Charles Bonnet’ syndrome triggered by brimonidine in a patient with Leber's hereditary optic neuropathy

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Estudio del ácido úrico en pacientes con apnea del sueño y su posible interés como marcador de hipoxia intermitente / No disponible

Objetivo: En el síndrome de apneas-hipopneas del sueño (SAHS) se produce hipoxia intermitente que aumenta el catabolismo del adenosín trifosfato hacia la formación de ácido úrico (AU). El objetivo de este estudio fue investigar la asociación de la apnea del sueño con la uricemia y determinar si los valores de ácido úrico (AU) y la relación ácido úrico/creatinina (AU/Cr) séricos varían en función de la gravedad del SAHS. Material y métodos: Se incluyeron 96 pacientes consecutivos con sospecha de SAHS a los que se les realizó medida de parámetros antropométricos, determinación de AU y creatinina plasmáticos y estudio de sueño (poligrafía respiratoria o polisomnografía). Resultados: Al comparar individuos con y sin SAHS se observaron mayores valores de AU (p<0,002) y del ratio AU/Cr (p<0,001) en el grupo con SAHS. La uricemia y la ratio AU/Cr mostraron una relación directa con el índice de masa corporal, el perímetro del cuello, el índice de apnea-hipopnea (IAH) y el índice de desaturación (ID), y correlación negativa con la saturación media y mínimas nocturnas de oxígeno. Estratificando a los pacientes en tres grupos según el valor de su IAH: 1) menor de 5 h-1 2) entre 5 y 30 h-1 3) superior a 30 h-1, observamos diferencias significativas para los valores del AU entre los grupos 1 y 3 (p<0,027) y entre los grupos 2 y 3 (p<0,028) y para el ratio AU/Cr entre los grupos 1 y 3 (p<0,015). Conclusión: Los pacientes con SAHS tienen valores plasmáticos de AU y de la ratio AU/Cr más elevados que los que no tienen SAHS y los niveles de AU y ratio AU/Cr aumentan con la severidad de la enfermedad. Estos resultados nos plantean su posible utilidad como marcadores de hipoxia intermitente(AU)

Objective: Sleep apnea-hypopnea syndrome (SAHS) causes intermittent hypoxia that increases adenosine triphosphate catabolism leading to uric acid (UA) formation. The goal of this study was to research on the link between sleep apnea and uricemia and to determine if uric acid (UA) values and the serum creatinine and uric acid (UA/Cr) ratio vary depending on SAHS severity. Material and methods: 96 consecutive patients who were suspected of having SAHS were included. Anthropometric measures were taken, UA and creatinine in plasma was established and a sleep study (respiratory polygraphy or polysomnography) was performed. Results: When comparing individuals with and without SAHS, greater UA values (p<0,002) and AU/Cr (p<0,001) ratio levels were observed for SAHS patient group. Uricemia and UA/Cr ratio showed direct relationship with body mass index, neck perimeter, apnea-hypopnea index (AHI) and desaturation index (DI). It showed negative correlation with oxygen average saturation and nocturnal minimal values. Patients were stratified in three groups according to their AHI: 1) under 5 h-1 2) between 5 and 30 h-1 3) over 30 h-1. For UA values, we observed significant differences between groups 1 and 3 (p<0,027) and between groups 2 and 3 (p<0,028); and for ratio AU/Cr, between groups 1 and 3 (p<0,015). Conclusion: SAHS patients show higher UA plasma values and UA/Cr ratio levels than those patients who don’t have SAHS. Moreover, UA values and UA/Cr ratio levels increase with the disease severity. These results prove useful as intermittent hypoxia markers(AU)

Influencia de la exposición a la luz sobre el sistema circadiano / No disponible

Introducción: El sincronizador más importante del sistema circadiano humano es la alternancia de luzoscuridad con un periodo de 24 horas. Los estudios en laboratorio han demostrado que todas las características de la exposición a la luz estudiadas (momento de exposición, intensidad, duración y espectro) son importantes en cuanto a su influencia sobre el sistema circadiano (SC). Sin embargo, poco se conoce acerca de la influencia del ciclo luz-oscuridad sobre el SC, en general, y sobre el ritmo de sueño-vigilia, en particular, en sujetos monitorizados de forma no-invasiva y ambulatoria. Objetivos: El objetivo de este trabajo ha sido el de determinar las características del régimen de exposición a la luz y su relación con el ritmo de sueño-vigilia y el funcionamiento del SC en sujetos monitorizados ambulatoriamente. Materiales y Métodos: Para ello, 88 voluntarios de entre 18 a 23 años, todos ellos estudiantes universitarios residentes en Murcia, fueron monitorizados ambulatoriamente durante una semana registrando temperatura periférica (TP), exposición a la luz y patrón de sueño en condiciones de vida normal. Se analizaron diferentes características del patrón de iluminación y sus efectos sobre TP y sueño. Resultados: En general, un patrón de exposición a la luz fragmentado se refleja en una mayor fragmentación en el ritmo de sueño. Además, un ritmo de exposición a la luz estable, amplio, con mayor intensidad luminosa durante la mañana y un mejor índice de calidad de la luz, producen mayor estabilidad y avance de fase en los ritmos de sueño-vigilia y de temperatura periférica. Conclusiones: La monitorización ambulatoria de la exposición a la luz proporciona una información esencial sobre el principal sincronizador del SC, que puede ser utilizada para prevenir y/o corregir problemas de salud relacionados con la disrupción circadiana (AU)

Introduction: The most important zeitgeber for the human circadian system is the alternation of light and darkness in a 24 hr period. Laboratory studies showed that all light characteristics (timing, intensity, duration and spectrum) strongly influence the circadian system (CS). However, little is known about the influence of light-dark cycle on CS and sleep-wake rhythm in subjects monitored under ambulatory conditions. Objectives: The objective of this work was to determine the characteristics of a naturalistic regime of light exposure and its relationship with the sleep-wake rhythm and the functioning of the human circadian system under ambulatory conditions. Materials and Methods: With this aim, 88 undergraduate volunteer students (18-23 years old) living in Murcia were ambulatory monitored for 1 week, recording wrist temperature (WT), light exposure and sleep pattern under free-living conditions. Different light pattern characteristics and their effects on WT and sleep were analysed. Results: In general, a more fragmented light exposure pattern provokes sleep fragmentation. In addition, light exposure rhythms that are more stable, robust, with higher light intensity during the morning and a better light quality index produce more stability and phase advances in sleep and WT. Conclusions: Ambulatory monitoring of light exposure provides essential information about the main circadian system input; it may be used to prevent or reverse health problems associated with circadian disruption (AU)

Microdeleción 16p11.2 asociada a convulsiones benignas de la primera infancia / 16p11.2 microdeletion associated to early onset benign childhood seizures

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