RESUMEN
There are conditions that are rare and that most providers are unaware of or conditions that consist of a series of symptoms for which there is no agreement that they are even a medical condition. These include painful nocturnal erections, post-orgasmic illness syndrome, body dysmorphic disorder, and post-finasteride syndrome. While some have a psychiatric basis, others clearly have an organic pathophysiology, while for others, there remains much controversy. This month's Views and Reviews will inform the reader of these conditions so they may recognize affected patients and direct them towards appropriate resources for their care.
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Andrología/métodos , Concienciación , Conocimientos, Actitudes y Práctica en Salud , Enfermedades Raras/diagnóstico , Andrología/normas , Trastorno Dismórfico Corporal/diagnóstico , Trastorno Dismórfico Corporal/psicología , Humanos , Masculino , Parasomnias del Sueño REM/diagnóstico , Parasomnias del Sueño REM/psicología , Enfermedades Raras/psicología , SíndromeRESUMEN
This literature review presents two unusual and mystifying disorders of penile erection: painful nocturnal erections, alternatively termed sleep-related painful erections, and idiopathic stuttering priapism, a variant of recurrent ischemic priapism in which no cause is discernible. The disorders are closely related although they are distinct clinically and pathologically. The main subject areas of discussion are recognition, clinical evaluation and management although current concepts surrounding their causes and mechanisms are also addressed. It is acknowledged that despite the perceived rarities of these disorders they are impactful in terms of their disease profiles and consequences. Future advances in their management will require continued development of evidence-based treatments.
Asunto(s)
Erección Peniana/fisiología , Priapismo/diagnóstico , Priapismo/fisiopatología , Parasomnias del Sueño REM/diagnóstico , Parasomnias del Sueño REM/fisiopatología , Humanos , Masculino , Erección Peniana/psicología , Priapismo/psicología , Parasomnias del Sueño REM/psicología , Enfermedades Raras/diagnóstico , Enfermedades Raras/fisiopatología , Enfermedades Raras/psicologíaRESUMEN
REM sleep without atonia (RSWA) is the polysomnographic finding of persistent muscle tone during REM sleep, resulting in paroxysmal phasic or tonic EMG activity. RSWA is essential for the diagnosis of REM sleep behavior disorder (RBD), but can also occur without dream-enacting behavior. Loss of atonia during REM sleep is considered as a biomarker for synucleinopathies. We will give an overview of the pathophysiology of RSWA and will highlight the diagnostic methods for RSWA. We will describe the different etiologies of RSWA and finally we will focus on the role of RSWA as biomarker for Lewy body disease. RSWA severity in isolated RBD patients is a potential predictor for early conversion to Parkinson's disease (PD) or dementia with Lewy bodies. In PD patients, RSWA severity is associated with more severe motor symptoms and disease progression. Future studies are needed to delineate the importance of isolated RSWA as prodromal marker of Lewy body disease.
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Enfermedad por Cuerpos de Lewy/fisiopatología , Enfermedad de Parkinson/fisiopatología , Síntomas Prodrómicos , Parasomnias del Sueño REM/fisiopatología , Progresión de la Enfermedad , Electromiografía , Medidas del Movimiento Ocular , Humanos , Narcolepsia/fisiopatología , Enfermedades Neurodegenerativas/fisiopatología , Polisomnografía , Trastorno de la Conducta del Sueño REM/fisiopatología , Parasomnias del Sueño REM/diagnóstico , Índice de Severidad de la Enfermedad , Sinucleinopatías/fisiopatología , Tauopatías/fisiopatologíaAsunto(s)
Bradicardia/diagnóstico , Bloqueo Cardíaco/diagnóstico , Parasomnias del Sueño REM/diagnóstico , Bradicardia/terapia , Presión de las Vías Aéreas Positiva Contínua , Electrocardiografía , Bloqueo Cardíaco/terapia , Humanos , Masculino , Persona de Mediana Edad , Marcapaso Artificial , Polisomnografía , Parasomnias del Sueño REM/terapia , Sueño REM , SíndromeAsunto(s)
Encéfalo/fisiopatología , Electroencefalografía , Parasomnias del Sueño REM/fisiopatología , Bruxismo del Sueño/fisiopatología , Sueño/fisiología , Conducta Verbal/fisiología , Adulto , Humanos , Masculino , Parasomnias del Sueño REM/complicaciones , Parasomnias del Sueño REM/diagnóstico , Bruxismo del Sueño/complicaciones , Bruxismo del Sueño/diagnósticoRESUMEN
Objective: To investigate the pathogenesis and management of sleep-related painful erections(SRPE). Methods: This study included 9 SRPE patients aged 39- 59( mean 47. 8) years and with a mean disease course of 13. 5 ± 1. 2 months. We conducted blood urine routine examinations, collected four blood coagulation indexes, obtained IIEF-5 scores and sexual hormone levels, and recorded the nocturnal penile tumescence( NPT) and results of polysomnographic sleep monitoring of the patients. After 1,4,8,12,and 24 weeks of individualized treatment for each patient, we performed telephone follow-up for therapeutic effects and adverse drug reactions. Results: All the 9 patients were diagnosed with primary SRPE after excluding other diseases,6 of them treated with chlorimipramine or chlorimipramine combined with other medicine and the other 3 by antiandrogen therapy. Complete pain remission was achieved by 77. 78% at 4 weeks and 66. 67% at 24 weeks. The 3 patients treated by antiandrogen therapy experienced recurrence at 24 weeks but relieved after 1 week of adjusted treatment. Conclusion: Chlorimipramine, combination of chlorimipramine with medicine, and antiandrogen therapy are all evidently effective for the treatment of primary SRPE.
Asunto(s)
Dolor , Erección Peniana , Parasomnias del Sueño REM/diagnóstico , Parasomnias del Sueño REM/tratamiento farmacológico , Adulto , Humanos , Masculino , Persona de Mediana EdadRESUMEN
BACKGROUND: The International Classification of Sleep Disorders-Third Edition (ICSD-3) classifies catathrenia among the respiratory disorders and not as a parasomnia as in ICSD-2. Few patients have been reported during these years, and the clinical description of the sound is different from group to group. In fact, there is no full agreement about its nature, origin, meaning, and treatment. METHODS AND RESULTS: In this paper we review the literature on catathrenia focusing on the characteristics of the sound, demographics of the patients, aetiology, response to treatment, etc., in order to support its classification as a respiratory disorder or a parasomnia. We also discuss the possibility of Catathrenia being not one disorder but two variants or two different disorders.
Asunto(s)
Parasomnias/diagnóstico , Parasomnias del Sueño REM/diagnóstico , Trastornos Respiratorios/diagnóstico , Ruidos Respiratorios , Diagnóstico Diferencial , HumanosRESUMEN
"Sleep sex," also known as sexsomnia, is a sleep disorder characterized by sexual behaviors committed while asleep. There has recently been increased interest in sexsomnia due to controversies arising in legal trials that have been widely publicized in the social and public media. This article attempts to marshal the current information about sexsomnia from the forensic literature and provides an overview of sexsomnia including common features, precipitating factors, prevalence rates, diagnostic procedures, and treatment. As sexsomnia represents a condition in which sexual acts are committed without awareness or intention, this paper also reviews the development of sexsomnia as a legal defense and summarizes Canadian case law on the topic. It provides an overview of the hurdles presented to defense attorneys attempting to utilize the defense and examines popular public notions surrounding the legitimacy of sexsomnia and the possibility of malingering. We conclude that sexsomnia is a legitimate sleep disorder for which case law now exists to support its use in legal defenses based on automatism. The question of whether it is an example of "sane" or "insane" automatism remains to be determined by the courts. Regardless of whether or not sexsomnia is determined to be a mental disorder by the courts, it is now a recognized and well-described sleep disorder that can be safely treated and managed by knowledgeable clinicians.
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Intoxicación Alcohólica , Automatismo , Psiquiatría Forense , Legislación Médica , Simulación de Enfermedad , Parasomnias del Sueño REM , Delitos Sexuales/legislación & jurisprudencia , Trastornos del Despertar del Sueño , Trastornos de la Transición Sueño-Vigilia , Consumo de Bebidas Alcohólicas , Automatismo/diagnóstico , Automatismo/terapia , Canadá , Diagnóstico Diferencial , Femenino , Psiquiatría Forense/métodos , Psiquiatría Forense/tendencias , Humanos , Jurisprudencia , Masculino , Simulación de Enfermedad/diagnóstico , Simulación de Enfermedad/terapia , Ontario , Erección Peniana , Factores Desencadenantes , Prevalencia , Parasomnias del Sueño REM/diagnóstico , Parasomnias del Sueño REM/epidemiología , Parasomnias del Sueño REM/etiología , Autoinforme , Delitos Sexuales/psicología , Conducta Sexual , Trastornos del Despertar del Sueño/diagnóstico , Trastornos del Despertar del Sueño/epidemiología , Trastornos del Despertar del Sueño/etiología , Trastornos de la Transición Sueño-Vigilia/diagnóstico , Trastornos de la Transición Sueño-Vigilia/epidemiología , Trastornos de la Transición Sueño-Vigilia/etiologíaRESUMEN
Split-night polysomnography is performed at our centre in all patients with ALS who require assessment for nocturnal hypoventilation and their response to non-invasive ventilation. The purpose of this study was to determine how successful this practice has been, reflected by whether a complete assessment was achieved by a single split-night polysomnogram. We undertook a systematic, retrospective review of all consecutive split-night polysomnograms in ALS patients between 2005 and 2012. A total of 47 cases were reviewed. Forty-three percent of patients had an incomplete test, resulting in a recommendation to repeat the polysomnogram. Poor sleep efficiency and absence of REM sleep in the diagnostic portion of the study were strongly associated with incomplete studies. Clinical variables that reflect severity of ALS (FVC, PaCO2, ALSFRS-R) and use of REM-suppressing antidepressants or sedative-hypnotics were not associated with incomplete split-night polysomnogram. In conclusion, a single, split-night polysomnogram is frequently inconclusive for the assessment of nocturnal hypoventilation and complete titration of non-invasive positive pressure ventilation in patients with ALS. Poor sleep efficiency and absence of REM sleep are the main limitations of split-night polysomnography in this patient population.
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Esclerosis Amiotrófica Lateral/complicaciones , Polisomnografía/métodos , Respiración con Presión Positiva , Parasomnias del Sueño REM/diagnóstico , Parasomnias del Sueño REM/etiología , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Factores de Tiempo , Capacidad VitalAsunto(s)
Parasomnias/diagnóstico , Parasomnias/terapia , Diagnóstico Diferencial , Electroencefalografía , Femenino , Humanos , Incidencia , Masculino , Pruebas Neuropsicológicas , Terrores Nocturnos/diagnóstico , Terrores Nocturnos/epidemiología , Terrores Nocturnos/terapia , Parasomnias/epidemiología , Examen Físico , Pronóstico , Parasomnias del Sueño REM/diagnóstico , Parasomnias del Sueño REM/epidemiología , Parasomnias del Sueño REM/terapia , Enfermedades Raras , Índice de Severidad de la EnfermedadRESUMEN
BACKGROUND: Autoimmunity might be associated with or implicated in sleep and neurodegenerative disorders. We aimed to describe the features of a novel neurological syndrome associated with prominent sleep dysfunction and antibodies to a neuronal antigen. METHODS: In this observational study, we used clinical and video polysomnography to identify a novel sleep disorder in three patients referred to the Sleep Unit of Hospital Clinic, University of Barcelona, Spain, for abnormal sleep behaviours and obstructive sleep apnoea. These patients had antibodies against a neuronal surface antigen, which were also present in five additional patients referred to our laboratory for antibody studies. These five patients had been assessed with polysomnography, which was done in our sleep unit in one patient and the recording reviewed in a second patient. Two patients underwent post-mortem brain examination. Immunoprecipitation and mass spectrometry were used to characterise the antigen and develop an assay for antibody testing. Serum or CSF from 298 patients with neurodegenerative, sleep, or autoimmune disorders served as control samples. FINDINGS: All eight patients (five women; median age at disease onset 59 years [range 52-76]) had abnormal sleep movements and behaviours and obstructive sleep apnoea, as confirmed by polysomnography. Six patients had chronic progression with a median duration from symptom onset to death or last visit of 5 years (range 2-12); in four the sleep disorder was the initial and most prominent feature, and in two it was preceded by gait instability followed by dysarthria, dysphagia, ataxia, or chorea. Two patients had a rapid progression with disequilibrium, dysarthria, dysphagia, and central hypoventilation, and died 2 months and 6 months, respectively, after symptom onset. In five of five patients, video polysomnography showed features of obstructive sleep apnoea, stridor, and abnormal sleep architecture (undifferentiated non-rapid-eye-movement [non-REM] sleep or poorly structured stage N2, simple movements and finalistic behaviours, normalisation of non-REM sleep by the end of the night, and, in the four patients with REM sleep recorded, REM sleep behaviour disorder). Four of four patients had HLA-DRB1*1001 and HLA-DQB1*0501 alleles. All patients had antibodies (mainly IgG4) against IgLON5, a neuronal cell adhesion molecule. Only one of the 298 controls, who had progressive supranuclear palsy, had IgLON5 antibodies. Neuropathology showed neuronal loss and extensive deposits of hyperphosphorylated tau mainly involving the tegmentum of the brainstem and hypothalamus in the two patients studied. INTERPRETATION: IgLON5 antibodies identify a unique non-REM and REM parasomnia with sleep breathing dysfunction and pathological features suggesting a tauopathy. FUNDING: Fondo de Investigaciones Sanitarias, Centros de Investigación Biomédica en Red de enfermedades neurodegenerativas (CIBERNED) and Respiratorias (CIBERES), Ministerio de Economía y Competitividad, Fundació la Marató TV3, and the National Institutes of Health.
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Autoanticuerpos/biosíntesis , Moléculas de Adhesión Celular Neuronal/inmunología , Parasomnias/inmunología , Apnea Obstructiva del Sueño/inmunología , Anciano , Autoanticuerpos/sangre , Progresión de la Enfermedad , Femenino , Humanos , Inmunoglobulina G/biosíntesis , Inmunoglobulina G/sangre , Masculino , Espectrometría de Masas , Persona de Mediana Edad , Paraproteínas/inmunología , Parasomnias/diagnóstico , Parasomnias/patología , Polisomnografía , Parasomnias del Sueño REM/diagnóstico , Parasomnias del Sueño REM/inmunología , Parasomnias del Sueño REM/patología , Apnea Obstructiva del Sueño/diagnóstico , Apnea Obstructiva del Sueño/patología , Síndrome , Tauopatías/diagnóstico , Tauopatías/inmunología , Tauopatías/patología , Proteínas tau/inmunologíaAsunto(s)
Cataplejía/diagnóstico , Narcolepsia/diagnóstico , Parasomnias del Sueño REM/diagnóstico , Adyuvantes Anestésicos/uso terapéutico , Adulto , Cataplejía/fisiopatología , Diagnóstico Diferencial , Epilepsia/diagnóstico , Humanos , Masculino , Narcolepsia/tratamiento farmacológico , Narcolepsia/fisiopatología , Polisomnografía , Oxibato de Sodio/uso terapéuticoAsunto(s)
Nivel de Alerta , Confusión/etiología , Parasomnias del Sueño REM/complicaciones , Síndromes de la Apnea del Sueño/complicaciones , Sueño REM , Preescolar , Electroencefalografía , Femenino , Humanos , Polisomnografía , Parasomnias del Sueño REM/diagnóstico , Síndromes de la Apnea del Sueño/diagnósticoRESUMEN
Idiopathic Rapid-Rye-Movement (REM) sleep Behavior Disorder (iRBD) is a strong early marker of Parkinson's Disease and is characterized by REM sleep without atonia (RSWA) and increased phasic muscle activity. Current proposed methods for detecting RSWA assume the presence of a manually scored hypnogram. In this study a full automatic REM sleep detector, using the EOG and EEG channels, is proposed. Based on statistical features, combined with subject specific feature scaling and post-processing of the classifier output, it was possible to obtain an mean accuracy of 0.96 with a mean sensitivity and specificity of 0.94 and 0.96 respectively.
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Diagnóstico por Computador/métodos , Electroencefalografía/métodos , Electrooculografía/métodos , Polisomnografía/métodos , Parasomnias del Sueño REM/diagnóstico , Sueño REM , Epilepsia Generalizada/diagnóstico , Epilepsia Generalizada/fisiopatología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Parasomnias del Sueño REM/fisiopatología , Reproducibilidad de los Resultados , Sensibilidad y EspecificidadRESUMEN
El trastorno de conducta del sueño REM (TCSR) es una parasomnia caracterizada por excesiva actividad electromiográfica (EMG) durante el sueño REM asociada a movimientos o conductas involuntarias que pueden ser vigorosas y causar lesiones en el paciente o en el compañero de cama. El TCSR puede ser idiopático o secundario a una enfermedad neurodegenerativa que curse con depósitos de la proteína alfa-sinucleína, como la enfermedad de Parkinson. El TCSR idiopático es, en realidad, y en la mayoría de los casos, síntoma de una sinucleinopatía. Su diagnóstico correcto y preciso es importante. Actualmente, la realización de un polisomnograma (PSG) para el diagnóstico del TCSR es obligatoria, pero los criterios de la Clasificación Internacional de las Alteraciones del Sueño (ICSD-2) que indican cómo hacer el diagnóstico son inespecíficos. Por una parte, la definición actual incluye la necesidad de encontrar una "excesiva" actividad EMG fásica o tónica, pero por otra parte, no explica qué significa excesiva ni tampoco cuáles son los valores de normalidad ni los músculos que deberían estudiarse en pacientes con sospecha clínica de TCSR. En busca de respuesta a estas preguntas, aparecieron las primeras investigaciones realizadas por científicos del grupo SINBAR (Sleep Insbruck Barcelona). En su primer trabajo estudiaron cuál era el montaje EMG más apropiado para la detección de la actividad fásica que ocurre en el TCSR. Escogieron un grupo de pacientes con TCSR y les realizaron un PSG que incluía 13 músculos diferentes en todo el cuerpo y codificaron la actividad fásica presente en cada uno de ellos en miniépocas de 3 segundos. Su conclusión fue que el mejor montaje para el estudio del TCSR es el que incluye los músculos del mentón, flexor superficial de los dedos en los antebrazos y extensor corto de los dedos en las piernas. En un segundo trabajo quedó demostrado que este montaje registraba el 95 etc) y vocales (hablar, gritar, etc) ocurridas durante el REM en pacientes con TCSR. Por último, en un tercer trabajo, el grupo SINBAR concluyó que el registro de la actividad EMG del mentón ,combinada con la de los flexores superficiales de los dedos, era suficientemente específica para diferenciar entre pacientes y controles, con un punto de corte del 32TCSR de manera fácil y segura registrando solo la actividad EMG del mentón y la de los flexores superficiales de los dedos, siempre que observemos actividad en más del 32 (AU)
No disponible
Asunto(s)
Humanos , Masculino , Femenino , Trastorno de la Conducta del Sueño REM/diagnóstico , Parasomnias/diagnóstico , Técnicas y Procedimientos Diagnósticos/instrumentación , Técnicas y Procedimientos Diagnósticos/normas , Técnicas y Procedimientos Diagnósticos/tendencias , Parasomnias , Parasomnias del Sueño REM/diagnóstico , Técnicas y Procedimientos DiagnósticosRESUMEN
Las parasomnias usualmente asociadas con el sueño REM incluyen las pesadillas, el trastorno comportamental del sueño REM y la parálisis del sueño aislada recurrente. Estos fenómenos anómalos de naturaleza episódica son, por lo general, paroxísticos en cuanto a su presentación y predecibles en cuanto a su ocurrencia en el ciclo de sueño, pudiendo presentarse a lo largo de todo el ciclo vital, si bien el tipo y presentación difieren con la edad. El objetivo de este trabajo es la descripción pormenorizada de las manifestaciones clínicas, características polisomnográficas, epidemiología, diagnóstico diferencial y tratamiento de estas disfunciones, siguiendo tanto la conceptualización y criterios diagnósticos aportados por la segunda edición de la Clasificación Internacional de los Trastornos del Sueño, como los resultados de la investigación realizada en este campo en los últimos años. (AU)
REM sleep related parasomnias include nightmares, REM sleep behaviour disorder and recurrent isolated sleep paralysis. These episodic phenomena tend to aparoxysmal presentation. Their occurrence is predictable in the sleep cycle and they can occur throughout all the life cicle, although the type and presentation differ with age. The aim of this paper is a detailed description of the clinical features, polysomnographic characteristics, epidemiology, differential diagnosis and treatment of these dysfunctions, following both the conceptualization and diagnostic criteria of the International Classification of Sleep Disorders, Second Edition, and findings obtaiend in this field in recent years (AU)
Asunto(s)
Humanos , Trastornos del Sueño-Vigilia/diagnóstico , Sueño REM , Parasomnias del Sueño REM/diagnóstico , Trastorno de la Conducta del Sueño REM/diagnóstico , Terrores Nocturnos/diagnóstico , Parálisis del Sueño/diagnósticoRESUMEN
BACKGROUND: Narcolepsy is a life-long disease characterized by abnormal regulation of the sleep-wake cycle and increased penetration of rapid eye movement (REM) sleep. In children, narcolepsy without cataplexy is more frequently seen than in adults. The aim of our study was to evaluate clinical and polysomnographic parameters to verify if cataplexy appearing later in life can be foretold. METHODS: 30 patients (12 boys), who contracted narcolepsy before the age of 18, were enrolled. All underwent clinical examination, nocturnal polysomnography (PSG), multiple sleep latency test (MSLT), HLA-DQB1∗0602 testing and, most of them Epworth Sleepiness Scale (ESS) rating. The Mann-Whitney rank and Fisher's tests were used for statistical analysis. RESULTS: Narcolepsy without cataplexy (NwC) was diagnosed in 40% of the patients. The mean age at the first symptoms was 14.0 ± 3.0, at diagnosis 15.6 ± 3.1 years. Narcolepsy was accompanied by hypnagogic hallucinations in 15 and sleep paralysis in 12 patients. Frequent symptoms were sleep inertia during awakening, REM behavior symptoms, behavioral and serious school problems. BMI was higher in patients with narcolepsy-cataplexy (N-C). A high ESS score was indicative of excessive daytime sleepiness (17.1 ± 2.5). Mean MSLT sleep latency was 4.0 ± 3.1 min with 3.2 ± 1.4 sleep onset REM periods (SOREMs) with no difference between the two study groups. HLA typing revealed no differences either. The N-C group showed a higher degree of wakefulness and superficial non-REM (NREM) stage 1 with a lower NREM stage 3 during PSG. CONCLUSION: Narcolepsy in childhood leaves very little scope for the prediction of cataplexy later in life.