Home sleep apnea testing: an accuracy study.

AIM: There are no studies comparing tests performed at home with those carried out in the laboratory, using the same device. The only studies that have been performed have compared the device used at home with the standard polygraph used in the laboratory. The purpose of this study was therefore to verify the accuracy of the home diagnosis of obstructive sleep apnea syndrome (OSAS) via unassisted type 2 portable polysomnography, compared with polysomnography using the same equipment in a sleep laboratory. METHODS: To avoid any possible order effect on the apnea-hypopnea index (AHI), we randomly created two groups of 20-total 40 patients, according to the test sequence. One of the groups had the first test at home and the second test in the laboratory (H-L); the other group had the first test in the laboratory and the second at home (L-H). The second test always took place on the night immediately following the first test. All polysomnographic monitoring was undertaken with the same equipment, an Embletta X100 system (Embla, Natus Inc., Middleton, USA). The Embletta X100 is a portable polygraph that records eleven polygraph signs: (1) electroencephalogram C4/A; (2) electroencephalogram O2/M1; (3) submental EMG; (4) electrooculogram of the right side; (5) nasal cannula (air flow); (6) respiratory effort against a plethysmographic chest strap; (7) respiratory effort against an abdominal plethysmographic belt; (8) heart rate; (9) saturation of oxyhemoglobin; (10) snoring; and (11) body position. RESULTS: There was no difference in sleep efficiency between the group monitored in the laboratory and the group tested at home (p = 0.30). There was no difference in total sleep time (p = 0.11) or sleep latency (p = 0.52), or in the latency in phases N2 and N3 between the monitoring in the laboratory and at home (N2 p = 0.24; N3 p = 0.09). Some differences occurred regarding the PSG that took place at home, with longer duration of wake after sleep onset (WASO) and longer latency for REM sleep, due to failure of the patient to start the monitoring by pressing the "events" button on the device. In the distribution of sleep phases, there was no difference between the group monitored in the laboratory and the group tested at home. CONCLUSION: Results from home sleep monitoring correlate well with the laboratory "gold standard" and may be an option for diagnosing OSAS in selected patients.

NREM-related parasomnias in Machado-Joseph disease: clinical and polysomnographic evaluation.

Spinocerebellar ataxias (SCA) are autosomal dominant neurodegenerative disorders that affect the cerebellum and its connections, and have a marked clinical and genetic variability. Machado-Joseph disease (MJD) or spinocerebellar ataxia type 3 (SCA3)--MJD/SCA3--is the most common SCA worldwide. MJD/SCA3 is characterized classically by progressive ataxia and variable other motor and non-motor symptoms. Sleep disorders are common, and include rapid eye movement (REM) sleep behaviour disorder (RBD), restless legs syndrome (RLS), insomnia, excessive daytime sleepiness, excessive fragmentary myoclonus and sleep apnea. This study aims to focus upon determining the presence or not of non-REM (NREM)-related parasomnias in MJD/SCA 3, using data from polysomnography (PSG) and clinical evaluation. Forty-seven patients with clinical and genetic diagnosis of MJD/SCA3 and 47 control subjects were evaluated clinically and by polysomnography. MJD/SCA3 patients had a higher frequency of arousals from slow wave sleep (P < 0.001), parasomnia complaints (confusional arousal/sleep terrors, P = 0.001; RBD, P < 0.001; and nightmares, P < 0.001), REM sleep without atonia (P < 0.001), periodic limb movements of sleep index (PLMSi) (P < 0.001), percentage of N3 sleep (P < 0.001) and percentage of N1 sleep (P < 0.001). These data show that NREM-related parasomnias must be included in the spectrum of sleep disorders in MJD/SCA3 patients.

Neurophysiological studies and non-motor symptoms prior to ataxia in a patient with machado-joseph disease: trying to understand the natural history of brain degeneration.

Spinocerebellar ataxia type 3 or Machado-Joseph disease is the most common spinocerebellar ataxia. In this neurological disease, anatomical, physiological, clinical, and functional neuroimaging demonstrate a degenerative process besides the cerebellum. We performed neurophysiological and neuroimaging studies-polysomnography, transcranial sonography, vestibular-evoked myogenic potential, single-photon emission computed tomography (SPECT) with (99m)Tc-TRODAT-1, and a formal neuropsychological evaluation in a patient with sleep complaints and positive testing for Machado-Joseph disease, without cerebellar atrophy, ataxia, or cognitive complaints. Polysomnography disclosed paradoxical high amplitude of submental muscle, characterizing REM sleep without atonia phenomenon. Transcranial sonography showed hyperechogenicity of the substantia nigra. There was an absence of vestibular-evoked myogenic potentials on both sides in the patient under study, in opposite to 20 healthy subjects. Brain imaging SPECT with (99m)Tc-TRODAT-1 demonstrated a significant lower DAT density than the average observed in six healthy controls. Electroneuromyography was normal. Neuropsychological evaluation demonstrated visuospatial and memory deficits. Impairment of midbrain cholinergic and pontine noradrenergic systems, dysfunction of the pre-synaptic nigrostriatal system, changes in echogenicity of the substantia nigra, and damage to vestibulo-cervical pathways are supposed to occur previous to cerebellar involvement in Machado-Joseph disease.

Sleep disorders in machado-joseph disease: frequency, discriminative thresholds, predictive values, and correlation with ataxia-related motor and non-motor features.

Sleep disorders are common complaints in patients with neurodegenerative diseases such as spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD)--SCA3/MJD. We evaluated the frequency of sleep disorders in SCA3/MJD patients against controls matched by age and gender, and correlated data with demographic and clinical variables. The main sleep disorders evaluated were rapid eye movement (REM) sleep behavior disorder (RBD), restless leg syndrome (RLS), and excessive daytime sleepiness (EDS). We recruited 40 patients with clinical and molecular-proven SCA3/MJD and 38 controls. We used the following clinical scales to evaluate our primary outcome measures: RBD Screening Questionnaire, International RLS Rating Scale, and Epworth Sleepiness Scale. To evaluate ataxia-related motor and non-motor features, we applied the International Cooperative Ataxia Rating Scale, the Scale for the Assessment and Rating of Ataxia, and the Unified Parkinson's Disease Rating Scale part III. Psychiatric manifestations were tested with the Hamilton Anxiety Scale, and Beck Depression Inventory. The frequency of RBD and RLS were significantly higher in the SCA3/MJD group than in the control group (p < 0.001). There was no difference between both groups with regard to EDS. The accuracy of RDBSQ to discriminate between cases and controls was considered the best area under the ROC curve (0.86). Within-SCA3/MJD group analysis showed that anxiety and depression were significantly correlated with RDB, but not with RLS. Additionally, depression was considered the best predictive clinical feature for RDB and EDS.

Is neuropathy involved with restless legs syndrome in Machado-Joseph disease?

OBJECTIVE: To evaluate a group of spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) (SCA3/MJD) patients and assess whether there is an association between neuropathy and serum ferritin levels and restless legs syndrome (RLS). METHODS: Twenty-six SCA3/MJD patients underwent electromyography studies to check for neuropathy. Their serum ferritin levels were measured as well. These findings were evaluated based on the presence or not of RLS and its severity. RESULTS: The proportion of neuropathy in the RLS group was not significantly higher compared to the non-RLS group (23 vs. 15%, Fisher's exact test, p = 1.000). Furthermore, no association was found between RLS and ferritin levels. CONCLUSION: We found no correlation between neuropathy or ferritin levels and RLS in SCA3/MJD patients.

Swallowing dysfunction related to obstructive sleep apnea: a nasal fibroscopy pilot study.

PURPOSE: Patients with obstructive sleep apnea (OSA) may have subclinical swallowing abnormalities due to progressive mechanical trauma of the pharyngeal tissues caused by snoring. There are few trials on swallowing among OSA patients, and most of them used videoradiography. The aim of this trial was to show swallowing function in OSA patients by nasal fibroscopy. METHOD: Eleven patients with OSA diagnosed by polysomnography, with a mean age of 48 ± 14 years, without spontaneous complaints of swallowing, and 14 non-snoring volunteers, with a mean age of 47 ± 12 years, without spontaneous complaints of swallowing, participated in the study. The participants were evaluated using nasal fibroscopy. Each participant was offered diet boluses (5 and 10 ml) such as thin liquids, purée, and solids, and their swallowing function was determined according to the following criteria: (1) premature oral leakage to the pharynx; (2) laryngeal penetration; (3) tracheal aspiration; and (4) pharyngeal stasis. RESULTS: Sixty-four percent of the OSA patients presented premature oral leakage, 55% presented pharyngeal stasis of the bolus after swallowing, and we did not observe laryngeal penetration or tracheal aspiration. There were no subclinical manifestations in the control group. CONCLUSION: OSA patients presented subclinical manifestations of abnormal swallowing, when analyzed using nasal fibroscopy, possibly associated with neuromuscular injury caused by snoring.

Sleep state misperception: is there a CNS structural source?

INTRODUCTION: We describe a case of sleep state misperception in a patient with a neurotoxoplasmosis lesion in the left nucleocapsular region. CASE REPORT: A 40-year-old female patient presented relating sleeplessness over the past 2 years, concurrent with progressive headaches, dizziness and motor and sensory deficits in the right upper and lower limbs. She had a history of AIDS, on irregular antiretroviral therapy and neurotoxoplasmosis. A polysomnography confirmed the hypothesis of sleep state misperception, and magnetic resonance imaging revealed a residual lesion in the left nucleocapsular region. CONCLUSION: Different models consider that the sleep state misperception could be correlated to structural abnormalities of the central nervous system. A recent study showed that the medial prefrontal cortex had a lower activation in patients with unrefreshing sleep due to chronic fatigue syndrome. This case report highlights the possibility of sleep state misperception having - at least partially - an anatomical substrate in the left nucleocapsular region.

The pharmacological treatment for uremic restless legs syndrome: evidence-based review.

Restless legs syndrome (RLS) is a common and often misdiagnosed entity among the general population and it may be more common among dialysis patients, with an estimated prevalence of 6.6 to 21.5%. The treatment for uremic RLS has been controversial and therefore a systematic synthesis of the evidence is needed in order to evaluate the effectiveness and safety of treatments for uremic RLS. This was a systematic review of randomized or quasi-randomized double-blind trials on treatments for uremic RLS. The outcomes considered were relief of RLS symptoms marked on a validated scale, subjective sleep quality, sleep quality measured using night polysomnography and actigraphy, quality of life measured subjectively, and adverse events associated with these treatments. Six eligible clinical trials were included. The results from subjective analyses in these studies were divergent, although objective analyses in one trial showed that there was a statistically significant improvement in periodic leg movement while asleep in the treatment group. No combined analysis (meta-analysis) was performed. The most common adverse event seen was gastrointestinal symptoms. Only a few therapeutic trials on patients with uremia with RLS have been published, and there is insufficient scientific evidence to favor any specific therapeutic regimen for uremic-associated RLS. Therapy using levodopa, dopaminergic agonists, anticonvulsants, and clonidine tend to be effective, but further studies are needed.

Methods for increasing upper airway muscle tonus in treating obstructive sleep apnea: systematic review.

OBJECTIVE: Treatment of obstructive sleep apnea (OSA) using methods for increasing upper airway muscle tonus has been controversial and poorly reported. Thus, a review of the evidence is needed to evaluate the effectiveness of these methods. DESIGN: The design used was a systematic review of randomized controlled trials. DATA SOURCES: Data sources are from the Cochrane Library, Medline, Embase and Scielo, registries of ongoing trials, theses indexed at Biblioteca Regional de Medicina/Pan-American Health Organization of the World Health Organization and the reference lists of all the trials retrieved. REVIEW METHODS: This was a review of randomized or quasi-randomized double-blind trials on OSA. Two reviewers independently applied eligibility criteria. One reviewer assessed study quality and extracted data, and these processes were checked by a second reviewer. The primary outcome was a decrease in the apnea/hypopnea index (AHI) of below five episodes per hour. Other outcomes were subjective sleep quality, sleep quality measured by night polysomnography, quality of life measured subjectively and adverse events associated with the treatments. DATA SYNTHESIS: Three eligible trials were included. Two studies showed improvements through the objective and subjective analyses, and one study showed improvement of snoring, but not of AHI while the subjective analyses showed no improvement. The adverse events were reported and they were not significant. CONCLUSIONS: There is no accepted scientific evidence that methods aiming to increase muscle tonus of the stomatognathic system are effective in reducing AHI to below five events per hour. Well-designed randomized controlled trials are needed to assess the efficacy of such methods.

Sensorimotor white matter projections and disease severity in primary Restless Legs Syndrome/Willis-Ekbom disease: a multimodal DTI analysis.

BACKGROUND: Restless Legs Syndrome, a potentially disabling sleep disorder, also known as Willis-Ekbom disease (RLS/WED), may be caused by loss of inhibitory modulation of descending central motor pathways, structural changes in the somatosensory cortex, abnormal connectivity between motor and sensory areas, as well as by subtle abnormalities in white matter micro-organization. OBJECTIVE: To compare diffusion-tensor imaging (DTI) metrics in areas associated with sensory or motor function, as well as sensorimotor integration, between subjects with primary mild-to-severe RLS/WED and controls. METHODS: DTI metrics were assessed in 38 subjects with RLS/WED (14 mild to moderate, 24 severe to very severe) and 24 healthy age-matched controls with whole-brain Tract Based Spatial Statistics (TBSS), Region-of-interest (ROI) and probabilistic tractography based analyses. The ROIs corresponded to the corticospinal tract (CST) at the level of the cerebral peduncle; the superior, middle and inferior cerebellar peduncles. Subgroup analyses were made according to the severity of RLS/WED symptoms. The corticospinal tract was evaluated with probabilistic tractography. We also explored associations between significant findings and severity of symptoms with the Spearman's correlation coefficient. RESULTS: TBSS analysis revealed decreased axial diffusivity (AD) in the left posterior thalamic radiation in RLS/WED. In subjects with severe RLS/WED, AD was reduced in the left posterior corona radiata and this reduction was negatively correlated with severity of symptoms. ROI-based analysis showed that radial diffusivity (RD) was increased in the superior cerebellar peduncles of individuals with severe RLS/WED. Tractography did not show between-group or subgroup differences. CONCLUSIONS: Our results are consistent with subtle white matter changes, prominently in RLS/WED subjects with more severe symptoms, in areas related to sensory or motor function, as well as to sensorimotor integration, compared to controls. These findings support the hypothesis, raised by prior pathophysiological studies, of defective integration within these networks.

Physically active elderly women sleep more and better than sedentary women.

BACKGROUND AND PURPOSE: The aging process leads to changes in sleep with a negative impact on the quality of life. Sleep is an important marker of quality of life and the relationship between physical exercise and sleep conditions has been the subject of various scientific studies, suggesting that the elderly who practice physical exercise present fewer sleeping problems. The purpose of this study was to compare the sleep of physically active and sedentary elderly women. PATIENTS AND METHODS: We included 101 elderly women, 53 practicing physical activity (PAG) and 48 sedentary (SG), matched for age, weight and height. All kept a sleep log and were asked to rate their sleep quality on a visual analog scale (VAS) daily for 30 days. RESULTS: Mean total sleep time (TST) was 7 h 12 min for PAG and 6 h 24 min for SG (p<.01). There were no differences for mean total nap time (TNT) and amount of naps (AN) between PAG and SG. Mean wake up after sleep onset (WASO) was 1h in the PAG and 2 h in the SG (p<.05). The mean perception of sleep quality was 8.3 for PAG and 5.8 for SG (p<.001). CONCLUSIONS: The results of this study indicate that physically active women sleep more and better than sedentary women.

Sleep apnea in Machado-Joseph disease: a clinical and polysomnographic evaluation.

OBJECTIVE/BACKGROUND: Machado-Joseph disease (MJD) or spinocerebellar ataxia type 3 (SCA3) is the most common type of autosomal dominant spinocerebellar ataxia (SCA). Sleep disorders have been described as frequent non-motor symptoms in MJD, and with marked impairment on quality of life. However, few studies have evaluated the frequency and characteristics of sleep apnea in MJD. PATIENTS/METHODS: This study analyzed the prevalence of sleep apnea in 47 patients with MJD by using polysomnography. Clinical variables such as age, age at onset of symptoms, duration of symptoms (at time of evaluation), body index mass, ataxia scales severity and CAG repeat length were compared with polysomnographic findings. RESULTS: Thirty four percent of MJD patients had OSAS, and 42.5% had excessive daytime somnolence. There were no differences considering ataxia severity, CAG repetition length or other clinical variable. CONCLUSIONS: Patients with MJD have high frequency of obstructive sleep apnea, and this sleep disorder is not correlated with ataxia severity, CAG repetition length or other clinical variable.

The duration of the cortical silent period is not abnormal in Restless Legs Syndrome/Willis-Ekbom Disease.

OBJECTIVE: To compare the duration of the cortical silent period (CSP) measured in a hand muscle in subjects with primary Restless Legs Syndrome (RLS/WED) and controls, using four different methods of analysis. METHODS: The CSP to transcranial magnetic stimulation of the dominant motor cortex was assessed in the abductor digiti minimi of 33 subjects with RLS/WED and 24 controls. CSP duration was measured by an automated and three visually-guided methods. RESULTS: There were significant differences between absolute values of CSP duration according to the method of analysis. However, irrespectively of the method used for CSP assessment, no differences were found between measurements performed in subjects with RLS/WED and subjects from the control group. CONCLUSIONS: Absolute values of CSP durations analyzed by different methods should not be directly compared, because significantly different results can be obtained from the same data set. SIGNIFICANCE: The CSP assessed from a hand muscle is unlikely to be a biomarker of primary RLS/WED. Our results highlight the importance of standardizing the definition of CSP onset and offset, as well as of describing in detail the methodology chosen to record and measure CSP duration, in order to enable comparisons between studies.

Clinical co-morbidities in obstructive sleep apnea syndrome treated with mandibular repositioning appliance.

INTRODUCTION: Intraoral mandibular repositioner appliances (IOMRAs) are designed to enlarge pharyngeal airway space advancing the mandible and increasing genioglossus tone during sleep. Obstructive sleep apnea syndrome (OSAS) treatment with IOMRAs is beneficial, but there is a lack of studies in the literature defining the target population more inclined to respond to this treatment. METHODS: We contacted by telephone 188 previously treated patients with IOMRA, detecting 20 not improved patients (Study Group). Twenty improved patients of the remaining 168 were randomly paired according to gender, age, apnea, and hypopnea index as Control Group. Both groups answered questionnaires for diagnosis of sleep disorders, depression, anxiety, and the Epworth sleepiness scale. We did a descriptive and inferential statistical analysis. The inferential analysis was divided into two steps: univariate analysis using Fischer exact test and a multiple inferential analysis using a stepwise regression model. RESULTS: Although the final model included only insomnia, we concluded that the presence of gastric, neurological and rheumatic diseases also tended to be associated with the self-perception of non-improvement. The association between the accumulation of gastric, neurological, and rheumatic diseases and insomnia and improvement demonstrated that an increase in one of these diseases correspond to a two-fold increase in the chance of non-improvement. CONCLUSIONS: Insomnia was the most important factor compromising the success of OSAS treatment with IOMRAs, and the isolated presence of gastric, neurological and rheumatic diseases, but especially their combination, reduces the perception rate of well-succeeded treatment with IOMRAs.

Cerebral venous thrombosis and hepatitis: case report.

Among the many infective causes of cerebral venous thrombosis (CVT), viral hepatitis is been regarded as a rare associated condition. We report on a 56-years-old man presenting CVT associated with hepatitis B and C coinfections outlining probable pathogenic mechanisms. We suggest that virus B and C serology should be performed in the cases of cerebral venous thrombosis with unknown etiology.

Rapid Eye Movement Sleep Behavior Disorder in Paraneoplastic Cerebellar Degeneration: Improvement with Immunotherapy.

STUDY OBJECTIVES: To report two female patients with paraneoplastic cerebellar degeneration (PCD) related to breast cancer that presented with rapid eye movement-sleep behavior disorder (RBD) and improved sleep symptoms with immunotherapy. METHODS: The two patients were evaluated through clinical scale and polysomnography before and after therapy with intravenous immunoglobulin. RESULTS: RBD was successfully treated with immunotherapy in both patients. Score on the RBD screening questionnaire dropped from 10 to 1 or 0, allied with the normalization of polysomnographic findings. CONCLUSIONS: A marked improvement in RBD after immunotherapy in PCD raises the hypothesis that secondary RBD may be an immune-mediated sleep disorder.

Transesophageal echocardiography discloses unexpected cardiac sources of embolus in stroke patients aged more than 45 years.

UNLABELLED: Cerebral embolism from cardiac source is an important cause of stroke, specially in patients younger than 45 years old. OBJECTIVE: To describe the transesophageal echocardiography (TEE) findings in young and non-young stroke patients without any prior evidence of cardiac source for cerebral embolism. METHOD: Transversal study: 523 patients (267 men and 256 women) with ischemic stroke, without any evidence of cardiac abnormality, underwent to TEE. RESULTS: Ten percent were aged 45 years; or less. Left ventricle hypertrophy, left atrial enlargement, spontaneous contrast in aorta, interatrial septum aneurysm, mitral and aortic valve calcification, aortic valve regurgitation, and atherosclerotic plaques in aorta were significantly more frequent in patients aged more than 45 years; 2.8% of non-young patients had thrombus in left heart. CONCLUSION: TEE is widely used to diagnose cardiac source of cerebral embolism in young patients, but it seems to be as useful for older ones, in whom cerebral embolism risk is underestimated; atherogenic and cardioembolic causes may actually coexist, and both should be treated.

Transcranial magnetic stimulation for evaluation of motor cortical excitability in restless legs syndrome/Willis-Ekbom disease.

There is no consensus about mechanisms underlying restless legs syndrome (RLS), also known as Willis-Ekbom disease (WED). Cortical excitability may be abnormal in RLS. Transcranial magnetic stimulation (TMS) can provide insight about cortical excitability. We reviewed studies about measures of excitability to TMS in RLS. Original studies published between January 1999 and January 2015 were searched in PubMed, Scopus, and Web of Science databases. Inclusion criteria were as follows: original studies involving primary RLS in patients from both sexes and ages between 18 and 85 years; TMS protocols clearly described; and they were written in English, in peer-reviewed journals. Fifteen manuscripts were identified. TMS protocols were heterogeneous across studies. Resting motor threshold, active motor threshold, and amplitudes of motor-evoked potentials were typically reported to be normal in RLS. A reduction in short-interval intracortical inhibition (SICI) was the most consistent finding, whereas conflicting results were described in regard to short-interval intracortical facilitation and the contralateral silent period. Decreased SICI can be reversed by treatment with dopaminergic agonists. Plasticity in the motor cortex and sensorimotor integration may be disrupted. TMS may become a useful biomarker of responsiveness to drug treatment in RLS. The field can benefit from increases in homogeneity and sizes of samples, as well as from decrease in methodological variability across studies.