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In amyotrophic lateral sclerosis (ALS) lower plasma creatinine level has been associated with shorter survival and faster functional decline. It has not been clear if creatinine is associated with respiratory outcome. We analyzed retrospectively a population of unselected ALS patients. Multiple-regression and Cox-regression analyses were performed. We included 233 patients, mean age 62.8, mean disease duration of 18.6 months. At baseline, creatinine was significantly associated with ALSFRS-R, but not with its decline rate. No predictive value was disclosed for FVC, its decline rate, or with survival. We did not confirm that creatinine is a marker of respiratory outcome.

Objective to explore the status of concentration of klotho and fibroblast growth factor 23 (FGF23) in cerebrospinal fluid (CSF) of patients with narcolepsy. Patients/methods 59 patients with narcolepsy and 17 control individuals were enrolled. We used radioimmunoassay, human klotho enzyme-linked immunosorbent assay (ELISA), human intact FGF23 ELISA and spectrophotometry to measure hypocretin-1, klotho, FGF-23 and phosphorus, respectively. T-Student Test was used to compare klotho and phosphate concentrations, Mann–Whitney U Test were used to compare FGF-23 levels between groups. ANOVA Test was used to compare klotho and phosphate CSF concentrations among narcolepsy patients with CSF hypocretin-1 110 pg/ml (HCRT+) versus control subjects. Results Klotho and phosphorus CSF levels were lower in narcoleptic patients than in control (908.18 ± 405.51 versus 1265.78 ± 523.26 pg/ml; p = 0.004 and 1.34 ± 0.25 versus 1.58 ± 0.23 mg/dl; p = 0.001, respectively). We found higher FGF-23 levels in narcoleptic patients (5.51 versus 4.00 pg/mL; p = 0.001). Klotho and phosphorus CSF levels were lower in both HCRT- and HCRT+ than controls. Moreover, there were higher FGF-23 levels in both HCRT-/HCRT+ groups versus controls. However, we did not find differences comparing HCRT- and HCRT+ groups, analyzing CSF klotho, FGF-23 or phosphorus levels. Conclusions Patients with narcolepsy have decreased CSF concentration of klotho and increased CSF levels of FGF-23. These findings may play a role in understanding the pathogenesis of narcolepsy.

Background: The co-occurrence of chronic pain and sleep disturbance contribute to a significant functional and social impact in older adults. However, there are no validated instruments to measure sleep disturbance and pain in this population that could be used to screen or diagnose individuals or monitor treatment effectiveness. Objective: Our aim was to develop and validate a brief, practical, and comprehensive tool to assess the impact of co-occurring pain and sleep disturbance in older adults. Methods: Development and validation of a measurement tool for assessing pain and sleep in older adults consisting of seven items. Results: We applied the “Sleep Assessment Instrument for Pain in older adults” (SAIOAP) in a sample of 100 older individuals. A Cronbach’s alpha of 0.602 indicated a moderate level of reliability, and item-total correlations of ≥0.4 for all items indicated good homogeneity. There were statistically significant correlations between the SAIOAP and sleep quality (PSQI, r=61.5), pain intensity (VNS, r=30.5), the multidimensional impacts of pain (GPM, r=40.5), depression (GEAP, r=45.5), comorbidity (r=27.9), and medication use (r=30.4). A ROC curve indicated a sensitivity of 73.2% and a specificity of 79.1% in relation to the prediction of sleep disturbances associated with pain in older adults. Conclusions: The SAIOAP presented adequate metric properties and was demonstrated to be a simple and practical tool for the assessment of the impact of pain on sleep in older adults. RESUMO Introdução: A co-ocorrência de dor crônica e de distúrbios do sono contribuem para um impacto funcional e social negativo em idosos. Porém, o binômio dor-sono não foi explorado em relação a questionários para idosos, a fim de auxiliar na triagem, no diagnóstico ou no monitoramento da eficácia do tratamento médico. Objetivo: Desenvolver e validar um instrumento breve, prático e abrangente para avaliar a concorrência de condições álgicas crônicas e distúrbios de sono em idosos. Métodos: Estudo descritivo e qualitativo de metodologia de desenvolvimento e validação de instrumento de medida para avaliação de dor e sono em idosos, composto por sete itens. Após a fundamentação teórica, desenvolveram-se os itens do instrumento, seguidos de um estudo quantitativo (validação), em que testamos pacientes idosos com dor crônica. Resultados: Aplicou-se o Instrumento de Avaliação de Sono para Dor em Idosos (IASID) a uma amostra de 100 idosos. Alcançou-se o alfa de Cronbach (0,602) de boa homogeneidade por correlação item-total (≥0,4). Encontramos correlações estatisticamente significativas entre o IASID e a qualidade do sono (PSQI, r=61,5%); a intensidade da dor (NVS, r=30,5%); seus impactos (GPM, r=40,5); depressão (GEAP, r=45,5%); comorbidades (r=27,9) e uso de medicamentos (r=30,4). A curva ROC apontou sensibilidade de 73,2% e especificidade de 79,1% para predição de distúrbios do sono associados à dor crônica em idosos. Conclusões: O IASID apresentou propriedades métricas adequadas e demonstrou ser uma ferramenta simples e prática para a avaliação do impacto da dor no sono em idosos.

Introduction Narcolepsy type 1 is a sleep disorder and the most common cause of hypersonia of central origin. It is characterized by sleep attacks, cataplexy, sleep-related hallucinations, sleep paralysis and sleep fragmentation in a pleomorphic presentation. The Narcolepsy Severity Scale (NSS), questionnaire which assesses the frequency and impact of the main symptoms of narcolepsy was developed in order to determine its clinical severity, needing translation, cultural adaptation and validation in many languages. The objective is to validate the Brazilian Portuguese version of the NSS. Methods The Brazilian version of the NSS was translated to Brazilian Portuguese and applied to patients with a diagnosis of narcolepsy type 1 at the Daytime Excessive Sleepiness Service, at Psychobiology Department of the Universidade Federal de Sao Paulo (UNIFESP) between February 2018 and July 2019. Results A total of 52 patients completed the questionnaire. Cultural adaptations were made to better comprehension of patients. The Brazilian version of the NSS showed high internal consistency, demonstrated by the Cronbach's alpha coefficient of 0.82. It showed good reproducibility capacity, verified through the test-retest, whose intraclass correlation was 0.98. The average severity of Brazilian patients was 33.94 (±11.24), higher than the values found in other population, which also underwent validation of this scale. There was a correlation between sleep latency in diagnostic polysomnography and the NSS. Conclusions The Brazilian Portuguese version of NSS showed to be valid and reproducible tool for assessing the severity of patients with type 1 narcolepsy and have potential impact on clinical practice.

Coronavirus disease 2019 (COVID‐19) remains with no specific treatment, despite the efforts of many scientists around the world. Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-COV-2) penetrates human host banknotes through interaction with angiotensin-converting enzyme 2 and transmembrane protease, serine 2 (TMPRSS2) receptors, located at respiratory tract (upper and lower) and the olfactory epithelium (pathway to the Central Nervous System). The virus causes COVID-19 and sometimes a Severe Acute Respiratory Syndrome (SARS). Several neurological manifestations can be associated with the infection. The SARS-COV-2 neurotropism for cardiorespiratory centers, causing autonomic damage, may contribute to respiratory failure. Almitrine is a respiratory stimulant drug, used in chronic hypoxemic diseases. Almitrine acts in peripheral chemoreceptors and could be a potential treatment for the optimization of chemoreceptors, improving the respiratory control affected by the SARS‐CoV‐2 in patients with COVID-19.

Introduction Narcolepsy is a sleep disorder associated with loss of hypocretin cells characterized by irrepressible need to sleep, often accompanied by cataplexy, sleep fragmentation, hypnagogical and hypnopompic hallucinations, and sleep paralysis. It is also correlated with alterations in the sleep–wake cycle, dysautonomia, olfactory dysfunction, and eating disorders. Methods This is a review about influence of narcolepsy on human olfaction. Pubmed, Embase, Ovid and Cochrane databases were searched for articles on the evaluation of olfactory function in narcoleptic patients including terms as narcolepsy, olfaction disorder, amongst others. Results Seven articles met the inclusion criteria. In five of them, the olfaction of narcoleptic patients was diminished in comparison with healthy control groups. The diagnosis of narcolepsy relates to worse performance in olfactory tests. Experimental researches showed that hypocretin and hypocretin receptors are present in the olfactory system, and this neuropeptide may have a role on olfactory sensitivity and on the olfactory modulation. The cause of hyposmia appears to be multifactorial. Among them, it stands out the hypocretin deficiency, therefore, that seems to be involved in the olfactory impairment in narcoleptic patients.

Patients with Parkinson’s and Huntington’s Disease (PD and HD) present impairments in cognitively challenging everyday activities. This study contrasts these two basal ganglia disorders on the ability to perform daily life- like tasks and their level of awareness regarding the disease impact on function. 19 controls, 10 early-onset PD, 20 early stage PD, and 15 early manifest HD patients were compared in the “EcoKitchen,” a virtual reality task with increasing executive load, the “Behavioural Assessment of Dysexecutive Syndrome battery – BADS,” and “The Adults and Older Adults Functional Assessment Inventory – IAFAI,” a self-report functional questionnaire. The EcoKitchen clinical correlates were investigated. All clinical groups presented slower EcoKitchen performance than controls, however, only HD patients showed decreased accuracy. HD and PD patients exhibited reduced BADS scores compared to the other study participants. Importantly, on the IAFAI, PD patients signalled more physically related incapacities and HD patients indicated more cognitively related incapacities. Accordingly, the EcoKitchen performance was significantly associated with PD motor symptom severity. Our findings suggest differential disease impact on cognition and function across PD and HD patients, with preserved awareness regarding disease- related functional sequelae. These observations have important implications for clinical management, research and rehabilitation.Implications for rehabilitationPatients with early stage Parkinson’s and Huntington’s disease have diagnosis-specific impairments in the performance of executively demanding everyday activities and, yet, show preserved awareness about the disease impact on their daily life.An active involvement of patients in the rehabilitation process should be encouraged, as their appraisal of the disease effects can help on practical decisions about meaningful targets for intervention, vocational choices, quality-of-life issues and/or specific everyday skills to boost.The EcoKitchen, a non-immersive virtual reality task, can detect and quantify early deficits in everyday-like tasks and is therefore a valuable tool for assessing the effects of rehabilitation strategies on the functional cognition of these patients.Rehabilitation efforts in the mild stages of Parkinson’s and Huntington’s disease should be aware of greater time needs from the patients in the performance of daily life tasks, target executive skills, and give a more prominent role to patients in symptoms report and management. Patients with early stage Parkinson’s and Huntington’s disease have diagnosis-specific impairments in the performance of executively demanding everyday activities and, yet, show preserved awareness about the disease impact on their daily life. An active involvement of patients in the rehabilitation process should be encouraged, as their appraisal of the disease effects can help on practical decisions about meaningful targets for intervention, vocational choices, quality-of-life issues and/or specific everyday skills to boost. The EcoKitchen, a non-immersive virtual reality task, can detect and quantify early deficits in everyday-like tasks and is therefore a valuable tool for assessing the effects of rehabilitation strategies on the functional cognition of these patients. Rehabilitation efforts in the mild stages of Parkinson’s and Huntington’s disease should be aware of greater time needs from the patients in the performance of daily life tasks, target executive skills, and give a more prominent role to patients in symptoms report and management.

Objective: To report the successful use of lisdexamfetamine in the management of narcolepsy. Methods: Five narcoleptic patients received lisdexamfetamine, at different dosages and for different periods, for management of excessive daytime sleepiness and weight control. Results: All patients experienced improvement of excessive daytime sleepiness and lost weight without side effects. Conclusion: Lisdexamfetamine appears promising for the treatment of two of the most common symptoms of narcolepsy: excessive daytime sleepiness and weight gain.

Introduction Restless legs syndrome (RLS) is a highly prevalent sleep movement disorder usually accompanied by periodic limb movements of sleep (PLMS). The incidence of RLS and PLMS in patients with end-stage renal disease (ESRD) on dialysis is much higher. Clinically, RLS and PLMS can co-occur. We hypothesized that patients with ESRD on dialysis would have a distinct presentation of RLS, with a higher prevalence of PLMS. Methods We examined clinical, demographic, biochemical, and polysomnographic characteristics of RLS in patients on dialysis matched to control subjects with normal renal function based on age, sex, body mass index, and frequency of apneas and hypopneas per hour of sleep, defined by the apnea and hypopnea index (AHI), in a proportion of 3:1. Patients with ESRD were on hemodialysis three times per week. Polysomnography was performed overnight in the sleep laboratory. Findings Patients on dialysis compared to control subjects had a lower amount of N3 sleep (77.6 ± 39.9 minutes vs. 94.8 ± 33.7 minutes, p = 0.037) and REM sleep (55.6 ± 27.5 minutes vs. 74.1 ± 28.4 minutes, p = 0.006), regardless of the presence of RLS. Among the patients on dialysis, those with RLS had higher PLMS. In the control group, patients with RLS had a lower ferritin level, which was not observed in the dialysis group. There was a significant interaction between PLMS and ESRD (p = 0.001), with a higher prevalence of PLMS in patients with ESRD on dialysis in a model adjusted for AHI, sex, arousals, and age. Factors that were associated with PLMS were RLS (p = 0.003), ESRD (p = 0.0001), and AHI (p = 0.041), with an adjusted R2 of 0.321. Conclusion RLS in patients with ESRD on dialysis is independently associated with PLMS, regardless of the severity of sleep apnea, arousals, and age.

A calcificação dos núcleos da base, ou síndrome de Fahr, pode ser secundária a variadas doenças, nomeadamente as que cursam com envolvimento da paratiróide. Distúrbios do movimento são achados clínicos comuns, mas a coreia é observada em menos de 20% dos casos e a distonia apenas em 8%. Apresentamos o caso de um homem de 49 anos com antecedentes de tiroidectomia, admitido no serviço de urgência com coreia aguda generalizada e distonia focal dolorosa dos pés, cujo estudo laboratorial revelava hipocalcémia e rabdomiólise e a tomografia computorizada crânio-encefálica mostrava calcificações parenquimatosas extensas com envolvimento dos núcleos da base. A alargada investigação complementar permitiu fazer o diagnóstico de síndrome de Fahr secundária a hipoparatiroidismo iatrogénico. Após estabilização da calcémia, a evolução clínica foi favorável com resolução dos sintomasneurológicos. A hipocalcémia deve ser investigada e corrigida depois de tiroidectomias, dada a irreversibilidade das calcificações intracerebrais e as potenciais consequências neurológicas e sistémicas.

Background: Narcolepsy is a disease resulting from the loss of hypocretin-producing cells or other dysfunctions of the hypocretinergic system. In addition to sleep disorders, affected patients may experience increased weight gain, olfactory changes, and poorer quality of life. Methods: This study aimed to investigate the relationship between narcolepsy and weight gain, years of study, sleep parameters, and olfactory dysfunction in patients with narcolepsy type 1 and narcolepsy type 2. Anthropometric, olfactory, socioeducational, and excessive daytime sleepiness evaluations were performed in 77 patients. Results: Greater weight gain and abdominal obesity were observed in patients with type 1 narcolepsy. Patients with higher education level had lower scores of daytime sleepiness, higher scores on the olfactory function test, and lower rates of abdominal obesity. Discussion: Patients with narcolepsy type 1 showed an increased body weight and abdominal obesity when compared to narcolepsy type 2. The patients with a higher schooling level showed a reduction of the daytime sleepiness scores, lower rates of abdominal obesity, and better scores on the olfactory function test. Conclusion: Among all the patients with narcolepsy, the data indicated that aging and hypocretin deficiency are associated with abdominal obesity, while years of study is the variable that mostly influences olfaction function. RESUMO Antecedentes: A narcolepsia é resultante da perda de células produtoras de hipocretina ou da disfunção do sistema hipocretinérgico. Além dos distúrbios do sono característicos da doença, os pacientes afetados podem apresentar também aumento de peso, alterações olfatórias e pior qualidade de vida. Métodos: O objetivo do estudo é investigar a relação entre a narcolepsia e o ganho de peso, anos de estudo, parâmetros do sono e a disfunção olfatória em pacientes com narcolepsia tipo 1 e narcolepsia tipo 2. Foram realizadas avaliações antropométricas, do olfato, sociais, educacionais e da sonolência excessiva diurna nos 77 indivíduos participantes da pesquisa. Resultados: Foram observados, nos pacientes com narcolepsia tipo 1, maior ganho de peso e maior frequência de obesidade central. Pacientes com ensino superior apresentaram escores mais baixos de sonolência excessiva diurna, escores mais altos no teste de função olfatória e menores taxas de obesidade central. Discussão: Pacientes com narcolepsia tipo 1 apresentaram maior ganho de peso e obesidade central quando comparados aos com narcolepsia tipo 2. Os pacientes com maior escolaridade apresentaram menores escores de sonolência diurna, de obesidade central e melhores escores no teste da função olfatória. Conclusão: Nos indivíduos com narcolepsia tipo 1 e tipo 2, os dados indicaram que o envelhecimento e a deficiência de hipocretina estão associados à obesidade central, enquanto anos de estudo é a variável que mais influencia na função olfatória.

SummaryNarcolepsy type 1 (NT1) is a rare and chronic neurological disease characterized by sudden sleep attacks, overwhelming daytime drowsiness, and cataplexy. To contribute to the understanding of NT1 genetic causes, here we describe a whole-genome analysis of a monozygotic twin pair discordant for NT1. Our study revealed that although both twins have the same pathogenic mutations in NT1 associated genes (such as HLA-DQB1*06:02:01, HLA-DRB1*11:01:02/*15:03:01) the unaffected twin has mutations in genes outside the HLA loci that could be suppressing the NT1 phenotype. These results support the notion that NT1 has an immunological basis but that protective mutations in non-HLA might interfere with the clinical manifestation of the disease.

Introduction: Type 1 diabetes mellitus (T1DM) is often associated with other autoimmune diseases. One of them is Stiff-Person Syndrome (SPS), a rare neurological disorder characterized by muscle spasms and progressive muscle stiffness, which most often affects females. Glutamic acid decarboxylase antibodies (anti-GAD) are associated with the pathogenesis of this disease as well as T1DM. These antibodies cause a deficit in the synthesis of γ-aminobutyric acid (GABA) that is essential both in the function as neurotransmitter and in the secretion of insulin in pancreatic β cells. Clinical case: We present the case of a 32-year-old female patient diagnosed with T1DM at 18 years old. Currently under intensive functional insulin therapy and flash glucose monitoring (FGM). Since 2019 with subcutaneous insulin infusion system. At the age of 26, the patient reports dystonia in the left lower limb with subsequent involvement of the contralateral lower limb, upper limbs, trunk and face. Collaboration was made with the Neurology department. Among the laboratory findings, of note: positive serum anti-GAD65 (5437 U/mL; Discussion: The association between T1DM and SPS is frequent. In this case, a patient with a known history of T1DM was presented, but cases of diagnosis of T1DM in patients with SPS have also been described. About 43% of patients have T1DM at the time of diagnosis of SPS. Anti-GAD are involved in the pathophysiology of these two diseases and anti-GAD titers are much higher in cases of association with SPS (about 50 to 100 times). In the treatment of patients with T1DM, physicians should be alert to the onset of other autoimmune diseases and active surveillance is essential for early diagnosis. Disclosure C. A. Araújo: None. C. Baptista: None. I. Paiva: None. A. Morgadinho: None.

STUDY OBJECTIVES: To the best of our knowledge, there has not as yet been any study on the effects of the COVID-19 pandemic on patients with narcolepsy, in particular, in relation to its impact on sleep schedules, symptoms, the need for medication, work, income, and quality of life. This study therefore aimed to explore these factors and their possible influence on sleep, circadian timing, and narcolepsy symptoms during the pandemic. METHODS: Patients with narcolepsy who had been in quarantine for at least 3 months completed a 36-question online survey. Questions targeted the conditions of the quarantine, sleep-related behaviors, and factors known to affect sleep and circadian rhythms (work status, income, appetite, narcolepsy symptoms, and medication), as well as the quality of life during the quarantine period. RESULTS: The routines of the participants had been altered by quarantine, with changes in their place of work, and an increase in narcolepsy symptoms, such as cataplexy, sleep paralysis, hallucinations, nocturnal awakenings, and sleepiness. Sleep and wake times changed, resulting in altered sleep patterns in most of the sample. No association between changes in the place of work and narcolepsy symptoms was found. Regarding medication, the participants used fewer antidepressant pills but took more stimulants. Appetite was increased and self-reported quality of life decreased during the period. CONCLUSIONS: During the quarantine, the patients with narcolepsy reported changes in their bedtime and waking-up schedules, suggesting a tendency to circadian misalignment. In Brazil, the effects of the COVID-19 outbreak have gone beyond the direct action of the virus because of the collateral damage it has caused in respect to unemployment, financial hardship, and a reduction in quality of life. These impacts have been amplified in Brazil because of the level of social inequality found in the country, and they have particularly affected vulnerable patients with rare diseases, such as the narcolepsy population. CITATION: Rodrigues Aguilar AC, Frange C, Huebra L, et al. The effects of the COVID-19 pandemic on patients with narcolepsy. J Clin Sleep Med. 2021;17(4):621–627.

Background: Neurological disorders are significant causes of morbidity and mortality worldwide. However, data about general neurological inpatient admissions in Brazil is limited. Objective: To investigate the prevalence of neurological disorders according to disease group and lesion site among patients admitted to a general Neurology ward. Methods: This was an observational and descriptive study. The hospital discharge database for the Neurology ward was surveyed in accordance with the International Classification of Diseases, 10th edition (ICD-10), from September 2008 to October 2019. The final diagnosis was classified into neurological disorder groups and site. Results: Overall, 2,606 clinical neurological patient files were included, with mean length of hospitalization of 16.7 days and a total of 325 readmissions (12.5%). The overall mortality rate in the ward was 3.8% (100 patients). Among all the diagnoses, cerebrovascular disease was the most prevalent (45.8%), followed by inflammatory disorders (22.2%). The brain was the most common lesion site (66.0%), followed by peripheral nerves (10.0%) and meninges and cerebrospinal fluid (7.7%). Conclusions: The disease pattern upon admission showed that a majority of the cases consisted of cerebrovascular disorders and that the brain was the most frequently affected structure, although we observed that a wide variety of cases were admitted, encompassing all neurological disorders. RESUMO Introdução: As doenças neurológicas representam importante causa de morbidade e mortalidade globalmente, mas informações acerca de internações hospitalares em neurologia no Brasil são limitadas. Objetivo: Investigar a prevalência de admissões neurológicas por grupo de doenças e pela topografia atendidas em uma enfermaria de neurologia geral. Métodos: Estudo observacional e descritivo. Avaliados diagnósticos de saída de acordo com o Código Internacional de Doenças-10 (CID-10) no período de setembro de 2008 a outubro de 2019. Os diagnósticos foram classificados em grupos de doença e por topografia. Resultados: Foram incluídos 2,606 pacientes, com tempo médio de internação de 16,7 dias e um total de 325 (12,5%) readmissões. A mortalidade geral na enfermaria foi de 100 (3,8%) pacientes. A doença cerebrovascular foi mais prevalente (45,8%), seguida das doenças inflamatórias (22,2%). A topografia encefálica foi a mais comum (66,0%), seguida de nervos periféricos (10,0%), meninges e líquido cefalorraquidiano (7,7%). Conclusões: O perfil de doenças observado neste estudo demonstrou maior prevalência das doenças cerebrovasculares e da topografia encefálica, embora uma grande variedade de doenças tenha sido admitida dentro do espectro de doenças neurológicas.

Paciente de 83 anos, feminina, com acidente vascular cerebral isquêmico por obstrução da artéria cerebral média direita. Realizada trombólise intra-arterial após cinco horas de evolução com controle da hipotensão usando noradrenalina obtendo sucesso na evolução e acompanhamento. Um aumento da morbidade e mortalidade em pacientes com hipotensão tem sido relatado. O controle da hipotensão arterial em pacientes com AVC é uma das medidas importantes na fase aguda da doença para uma boa evolução.

In stroke patients particularly, many factors, such as sleep-related respiratory disturbances, can impair sleep. Cheap and easy-to-use tools have been created to identify sleep quality and sleep disturbances in patients after stroke. This study described the scores of the sleep apnea screening questionnaire - STOP-BANG - in patients after a stroke, and correlated the findings with sleep quality measured by the Pittsburgh Sleep Quality Index (PSQI). The scores of the STOP-BANG and PSQI were 4.3 ± 1.8 and 76 ± 3.9, respectively. The STOP-BANG scores were higher in poor sleepers (4.5 ± 1.6 versus 3.5 ± 1.9; p = 0.032). Logistic regression analysis was used to identify predictors of subjective sleep quality (PSQI) and the STOP-BANG as a predictor of poor quality sleep, with a relative risk of 1.6, controlled for age and sex. This study indicated that sleep quality was largely influenced by sleep breathing problems, which were well identified by the STOP-BANG, especially in younger stroke patients. RESUMO Especialmente em pacientes com acidente vascular cerebral (AVC), muitos fatores prejudicam o sono, como distúrbios respiratórios do sono (DRS). Ferramentas mais baratas foram usadas para identificar a qualidade do sono e distúrbios do sono após AVC. Este estudo verificou a influência das queixas DRS na qualidade do sono após AVC utilizando questionários. Nós investigamos a qualidade do sono eo risco de Apneia Obstrutiva do Sono com o Índice de Qualidade do Sono de Pittsburgh (PSQI) e Stop-Bang em 68 pacientes após AVC. As pontuações de STOP-BANG e PSQI foram de 4,3 ± 1,8 e 7,6 ± 3,9, respectivamente. As pontuações de STOP-BANG foram mais elevadas em pacientes com sono ruim (4,5 ± 1,6 versus 3,5 ± 1,9; p = 0,032). A regressão logística caracterizou o STOP-BANG como preditor de um sono de má qualidade. Estes achados confirmam a influência das queixas respiratórias noturnas na qualidade do sono após AVC.

Plasmocitoma é uma neoplasia originária de células plasmocitárias que pode produzir complicações neurológicas. Apresentamos o caso de um paciente do sexo masculino que, aos 59 anos de idade, manifestou um quadro de compressão medular no nível T8. A investigação com ressonância magnética revelou a presença de massa tumoral epidural nos níveis T7 a T9. A investigação clínica e os achados do exame anatomopatológico da peça cirúrgica revelaram tratar-se de plasmocitoma solitário. Plasmocitoma deve ser incluído no diagnóstico diferencial das lesões que produzem compressão medular.

Hypocretin is neuropeptide from lateral hypothalamus with two specific receptors. There is a wide anatomic distribution of the hypocretin-1 and hypocretin-2 receptors that suggests this neuropeptide exerts numerous functions. The hypocretin plays a physiological role as a central mediator of energy homeostasis and food intake and regulates neuroendocrine axes. Hypocretin also promotes excessive consumption of numerous substances considered rewarding, motivating the search for drugs, tasty foods, and other substances associated with the reward. Hypocretin deficiency characterizes narcolepsy type 1 with excessive daytime sleepiness and cataplexy. These patients have highest weight and after exposition to unrestricted access to snacks they eat almost four times more calories. In theory, patients with type 1 narcolepsy have less satiety with regard to food choices and snack ingestion. Studies are necessary to understand the mechanisms why hypocretin deficiency drives higher prevalence of obesity and other comorbities.

Diabetes mellitus is the seventh leading cause of disability and its annual cost is $825 billion worldwide. Its prevalence is increasing globally and the number of cases is expected to reach nearly 366 million by 2030. As the conventional antidiabetic drugs are often associated with several adverse effects and have not been entirely efficacious for controlling the disease, the investigation of alternative bioactive molecules derived from natural products for the prevention and control of diabetes remains on the front line. Thus, the aim of the present review is to gather information about some common health-promoting plant-derived bioactive compounds used to prevent and treat diabetes and its complications. Several studies have demonstrated that some bioactive natural products are able to improve insulin resistance and conditions associated with diabetes. Ginkgo biloba extract, epigallocatechin-3-gallate, genistein, resveratrol, and curcumin are among the main effective bioactive products studied due to their antiinflammatory and antioxidant effects and beneficial actions on lipid profile and glucose homeostasis. These properties point to their potential use as antidiabetic compounds, as adjuvants to lifestyle, diet, and pharmacological measures.

Our aim was to explore the influence of sleep and circadian preference on upper extremity (UE) rehabilitation in stroke patients after constraint-induced movement therapy (CIMT) in a cross-sectional retrospective observational study. Forty-three patients were selected to complete questionnaires on circadian preference, sleep quality, excessive daytime sleepiness, and risk of obstructive sleep apnea. They had undergone a 10-day standard CIMT program without medical complications and with normal to minimal cognitive dysfunction. All pre- and postrehabilitation scores (patient perception of the quantity and quality of use of the affected UE and self-quantification of motor ability) were analyzed retrospectively. All patients had improved perception of the quantity and quality of use of the affected UE and self-quantified motor ability. Patients with an evening-type chronotype demonstrated less improvement than those with morning and intermediate types. In addition, patients with poor sleep quality showed less improvement in functional ability than those with good sleep quality. Circadian preferences and sleep quality impacted the improvements in motor performance of patients with stroke after CIMT rehabilitation. This is the first study to suggest that rehabilitation sessions must respect the circadian preferences of patients and that sleep quality can affect outcomes. Future studies should investigate the relationship and mechanisms between circadian preference and poor sleep quality and rehabilitation outcomes on a larger scale.

In this review, we aim to describe the main sleep disorders observed in patients with different forms of hereditary ataxias and discuss the main pathophysiological mechanisms. Several pathological studies have demonstrated that the degenerative process in patients with hereditary ataxias may involve not only the cerebellum, but also other areas of the nervous system, and explain noncerebellar symptoms, such as sleep disorders. Hereditary ataxias are neurodegenerative disorders with heterogeneous genetic and clinical presentation. This group of diseases usually affects other areas of the nervous system, besides the cerebellum, and noncerebellar signs and symptoms may occur, such as sleep disorders. The main sleep disorders related to hereditary ataxias include REM sleep behavior disorder, insomnia, excessive daytime sleepiness, obstructive and central sleep apnea, periodic leg movement in sleep, and restless legs syndrome.

Objective: To examine the semantics of chronic pain in narcolepsy and to compare with the poem Inferno, from Dante Alighieri. Methods: A cross-sectional study, in which type 1 (n=33) and type 2 (n=33) patients (hypocretin-1 quantification in cerebrospinal fluid), were studied at Departamento de Psicobiologia - Universidade Federal de São Paulo (Brazil). We assessed pain descriptors in the Present Rating Index (PRI) from McGill Pain Questionnaire. Results: There was no significant difference in PRI between narcolepsy groups. In both groups, the most frequent words had a sensory dimension: throbbing, jumping, and tugging. Multiple correspondence analysis revealed the predominance of sensory descriptors and the deficiency of affective descriptors in these groups. Discussion: A study that interpreted the poem Inferno, from Dante Alighieri, as McGill Pain Questionnaires descriptors suggested a contribution of the sensory dimension in pain of possibly narcolepsy patients, similar as in our results.

Dopamine dysregulation syndrome is a rare complication of Parkinson’s disease (PD) treatment. We present a 70-year-old woman with a long-standing PD and a clinical picture compatible with dopaminergic dysregulation, which was ultimately revealed to be induced by her companion. Patient’s exuberant choreiform dyskinesia led to a potential financial advantage when performed outside the hospital but excessive dopamine intake also occurred during hospital admission, without any obvious reward for the abuser. Even in cases where there is no place for a definitive diagnosis, deceptive behaviours must be identified as their management is based on psychological and social support in parallel to the adjustment of PD therapy.

Tremor frequency analysis is usually performed by EMG studies but accelerometers are progressively being more used. The iPhone® contains an accelerometer and many applications claim to be capable of measuring tremor frequency. We tested three applications in twenty-two patients with a diagnosis of PD, ET and Holmes' tremor. EMG needle assessment as well as accelerometry was performed at the same time. There was very strong correlation (Pearson >0.8, p < 0.001) between the three applications, the EMG needle and the accelerometry. Our data suggests the apps LiftPulse®, iSeismometer® and Studymytremor® are a reliable alternative to the EMG for tremor frequency assessment.

Stroke is an example of neurological diseases that can commonly drives Excessive Daytime Sleepiness (EDS). Extensive strokes with brain edema can leave a brain herniation and coma. Other causes of EDS after stroke are strategic lesions at Thalamus and brainstein. A 56-year-old man, right handed, with hypertension and hypercholesterolemia was admitted at Emergency Room due to 5 days onset of EDS, memory impairment, and left-sided weakness. A brain magnetic resonance imaging showed paramedian thalamic hyperintensity with rostral midbrain hyperintensity extending along the pial surface of the interpeduncular fossa. The artery of Percheron (AP) is an unusual anatomical variation that originates from the posterior cerebral artery and irrigates the paramedian regions of the thalamus and part of the midbrain. It is important the clinical suspicions with detailed drowsy patients history. Awareness of the clinical and neuroimaging features of this stroke syndrome is essential for timely diagnosis and appropriate management.

Cataplexy is a transient loss of muscle tone that can be triggered by emotions such as laughter, excitement or fear. Other causes of cataplexy include Niemann-Pick type C Disease, Angelman Syndrome, Norrie Disease, Prader-Willi Syndrome. In addition, cataplexy can be a side effect of several drugs (eg, lamotrigine, clozapine, and gamma-hydroxybutyrate). Yet, the most prevalent causes of cataplexy without narcolepsy are rare genetic diseases; which explains why cataplexy is classically linked to narcolepsy. Therefore, it is essential disconnecting cataplexy from narcolepsy especially in pediatric population and after use of a few medications. In this review, we described few conditions of cataplexy not related to narcolepsy. We performed a review of literature (MEDLINE and EMBASE database), without limited date or publication restrictions.

Objectives: Musculoskeletal (MSK) pain and hypersomnolence (HPS) are very disabling conditions that may share some pathophysiological factors. This study aimed to evaluate the interaction between MSK pain and HPS and its association with mood symptoms, fatigue, quality of life, and both objective and subjective sleep quality. Design: Cross-sectional study. Setting: General population based sample. Participants: 510 individuals from EPISONO cohort, São Paulo (Brazil). Measurements: All participants completed questionnaires, had clinical assessment and underwent a full-night polysomnography. HPS was defined according to Epworth Sleepiness Scale while the presence of MSK pain was defined by structured questionnaire. The sample was allocated into 4 groups: control (CTRL, n=281), HPS (n=141), MSK (n=50), and both conditions (HPS+MSK, n=38). Results: MSK pain and HPS by themselves were associated with worse mood symptoms and quality of life. However, individuals with both associated conditions (HPS+MSK) presented higher frequencies of moderate to severe depression (44.1%) and anxiety symptoms (45.7%), as well as an additional decrease in quality of life compared to the other groups. There were no differences between HPS+MSK and MSK groups in objective sleep pattern. With regard to subjective sleep, HPS+MSK presented a higher prevalence of sleep attacks and cataplexy compared to all other groups. Conclusions: The combination of MSK pain and HPS was associated with worse mood symptoms, quality of life and HPS-related features. This study suggests that sleepiness may be an important symptom to be investigated and treated in MSK pain-related conditions for a better quality of life.

Introduction Obstructive sleep apnea (OSA) and physical inactivity are frequent in patients with stroke. Overnight fluid shift may increase the propensity to pharyngeal obstruction and thus predispose to OSA. Also, physical inactivity can lead to consequent edema in the hemiparetic side. Methods In 7 patients at 3 months following post-first-ever ischemic stroke, we measured change in AHI (PSG), neck circumference, and arms and legs fluid volume (bioelectric impedance), before and after PSG in two conditions during the day before PSG: (1) inactive (sitting/lying), and (2) physically active (standing, walking, climbing stairs and mild exercise for 30 mins/hour). Results Being physically active for one day decreased mean AHI (inactive: 17.9/h; active: 12.6/h). Mean neck circumference increased overnight in both conditions (active and inactive) but increased more when the participants were physically active (inactive: 38 to 38.5cm; active: 38.43 to 39.5cm). Mean paretic arm fluid volume increased after inactive condition and did not change after physically active condition (inactive: 1.33L to 1.45L; active: 1.82L). Mean non-paretic arm fluid volume increased after active and inactive conditions (inactive: 1.34L to 1.45L; active: 1.74 to 1.78L). In both conditions and for paretic and non-paretic arms, being physically active for one day increased arm fluid volume between pre- and post-sleep comparisons. Mean paretic leg fluid volume increased after both conditions but increased more when the participants were inactive (inactive: 6.08L to 6.52L; active: 6.12 to 6.24L). Mean non-paretic leg fluid volume increased after inactive condition and decreased after being physically active (inactive: 6.01L to 6.45L; active: 6.15 to 6.06L). Conclusion Being physically active for one day decreased AHI, despite the increased fluid accumulation in the neck, and contributed to leaving no edema in the hemiparetic side. Breaking up inactivity and increasing physical activity in patients following stroke may be a promising intervention to reduce edema and OSA. Support São Paulo Research Foundation (FAPESP, grant #2018/18952-1 to CF).

Background Impairments in functional cognition (cognitive skills underlying the performance of everyday activities) are frequent in Huntington and Parkinson Disease (HD and PD) and are thought to significantly influence the quality of life of patients. Assessment tools that can fully apprehend this domain are scarce. Aims This study aims to use novel subjective and objective assessment tools to capture the early cognitive and functional changes of HD and PD patients. Methods The performance of three groups (Controls, Early Manifest HD patients and Early Onset PD patients) was compared in two measures: ‘The Adults and Older Adults Functional Assessment Inventory – IAFAI’, a self-report assessment tool, and EcoKitchen, a non-immersive virtual reality task. Incapacity percentages (IAFAI) and Time and Error variables (EcoKitchen) were computed for each participant. Results In IAFAI, the two clinical groups reported higher percentages of incapacity in performing activities of daily living compared to controls. PD patients reported higher percentages of incapacity than HD patients. In EcoKitchen, HD patients showed an increased performance time and higher number of errors compared to controls. PD patients were also slower than controls, but no differences were found in the error variables. HD and PD patients differed in the most cognitively demanding trial of EcoKitchen – HD patients had a higher number of errors. Conclusion The two novel tools used to assess the functional cognition of HD and PD patients were able to detect early impairments in this domain. Moreover, they signalled inconsistencies between the subjective and objective information collected from patients. PD patients reported more functional incapacities than HD patients in IAFAI, but HD patients exhibited more impairments than PD patients in EcoKitchen. Sensitive and ecologically valid assessment methods will allow a more accurate identification and management of the patients’ real-life problems.

Myotonic dystrophy (MD) is a neuromuscular disease with myotonia, progressive weakness, and involvement of CNS, heart, and gastrointestinal system. Excessive daytime sleepiness (EDS) in myotonic dystrophy type 1 (MD1) is related to sleep breathing diseases, restless leg syndrome, periodic limb movements during sleep and narcoleptic-like phenotype. However, authors highlight a central dysfunction of sleep regulation. We describe a 26-year-old, female, MD1 patient with EDS. Sleep diary/actigraphy evidenced two different circadian periods with values of 1442 and 1522 min. Agomelatine, 50 mg at night, was prescribed with improvement of the circadian rhythm and complaints of sleepiness. The identification of unanticipated causes of EDS, such as circadian rhythm disorders permits an appropriated treatment. As we know, it is the first relate of non-24-h sleep-wake disorder in patient with MD1. Sleep diary and actigraphy could be good options to investigate sleep-wake cycle disorder in patients with MD and EDS.

Narcolepsy is a rare sleep disorder classified in types 1 and 2. The co-morbidities of narcolepsy type 1, with hypocretin-1 deficiency, are established. Hypocretin-1 in the central and peripheral nervous systems regulates nociception and pain. However, the patients with narcolepsy type 2 have similar excessive daytime sleepiness and co-morbidities without elucidation. The objective of the study was to determine the frequency and the characteristic of chronic pain according to the type of narcolepsy. We also investigated the effect of the interaction between the nutritional status and the type of narcolepsy. It was a cross-sectional study using self-administered questionnaires. Patients with narcolepsy (33 type 1 and 33 type 2), from Universidade Federal de Sao Paulo, Brazil, matched by age and gender to 33 control subjects were included. Both types of narcolepsy presented a high frequency of chronic pain (84.84% type 1 versus 75.75% type 2), with indistinct pain characteristics between them. The odds ratio was 20.8 in type 1 and 11.6 in type 2, compared with controls. Obese individuals with narcolepsy type 1 and type 2 did not present a significant difference in pain intensity, compared with obese controls. Patients with narcolepsy type 1 and type 2 were associated with a high frequency of chronic pain. Chronic pain emerged as a co-morbidity never reported before in type 2. Depression possibly influences pain perception in these patients. Obesity might play a role in pain intensity in narcolepsy. The treatment of narcolepsy should take account of chronic pain, depression and obesity management.

This paper discusses the perceptions of some of the key stakeholders related with the European automotive manufacturers, automotive related industries – oil, tyres, electric batteries and information technology industries – and academia, about the technological contributions to lower greenhouse gas emissions of individual passenger vehicles. A qualitative approach, based on semi-structured interviews, was used in order to identify and explore possible relationships, causes, effects and dynamic processes. Technological and behavioural aspects were identified as crucial for the decrease of fossil fuels consumption and hence reducing carbon dioxide emissions. It was concluded that there is a strong focus on lowering the greenhouse gas and carbon dioxide emissions in the automotive sector and related industries concerning innovation process; furthermore there is a need for major stakeholders, including policy makers, to look at sustainable mobility using a more holistic and inclusive approach to achieve an effective delivery.

The association between sleep-disordered breathing and stroke has been a subject of increased interest and research. Obstructive sleep apnea (OSA) is an important risk factor for stroke incidence and mortality. Moreover, OSA is a common clinical outcome after stroke, directly influencing the patient's recovery. The treatment of choice for OSA is positive airway pressure (PAP) support and the PAP appliance is considered the most recommended clinical management for the treatment of patients with cardiovascular complications. However, the implementation of PAP in stroke patients remains a challenge, considering the increased frequency of motor and language impairments associated with the cerebrovascular event. In the present study, we reviewed the main findings describing the association between stroke and OSA treatment with continuous positive airway pressure. We also discussed the types of OSA treatment, the different options and indications of PAP treatment, PAP adherence and the clinical outcomes after treatment.

Univ Fed Sao Paulo, Dept Psiquiatria, Programa Reconhecimento & Intervencao Estados Men, Sao Paulo, SP, Brazil

Sleep apnea (SA), a condition associated with increased cardiovascular risk, has been traditionally associated with obesity and aging. However, in patients with fluid-retaining states, such as congestive heart failure and end-stage renal disease, both prevalence and severity of SA are increased. Recently, fluid shift has been recognized to play an important role in the pathophysiology of SA, since the fluid retained in the legs during the day shifts rostrally while recumbent, leading to edema of upper airways. Such simple physics, observed even in healthy individuals, has great impact in patients with fluid overload. Correction of the excess fluid volume has risen as a potential target therapy to improve SA, by attenuation of nocturnal fluid shift. Such strategy has gained special attention, since the standard treatment for SA, the positive airway pressure, has low compliance rates among its users and has failed to reduce cardiovascular outcomes. This review focuses on the pathophysiology of edema and fluid shift, and summarizes the most relevant findings of studies that investigated the impact of treating volume overload on SA. We aim to expand horizons in the treatment of SA by calling attention to a potentially reversible condition, which is commonly underestimated in clinical practice.

Streptococcal infections are suggested as a risk factor for narcolepsy. This hypothesis is supported by the presence of anti-streptolysin antibodies in 65% of patients with narcolepsy. These infections are associated with the activation of general immunity and concomitant increased permeability of blood–brain barrier after T cell activation during inflammation and fever.It has also been shown a significant association between birth order and narcolepsy in genetically susceptible patients, with positivity for HLA-DQB1⁎0602 allele. Watson and colleagues showed a significant association between birth order and narcolepsy in genetically susceptible patients, with positivity for HLA-DQB1⁎0602 allele. In that study, the disease was predominant in young children cases compared to controls.We report here the case of a child diagnosed with narcolepsy with cataplexy, positivity for the HLA-DQB1⁎0602 and previous history of streptococcal infection.

Chronotype and obstructive sleep apnea (OSA) appear to have a similar lifelong evolution, which could indicate a possible effect of morningness or eveningness in the apnea-hypopnea index (AHI). The present study aimed to examine the prevalence of chronotypes in a representative sample of Sao Paulo city residents and to investigate the effect of chronotypes on the severity of OSA. We performed a cross-sectional analysis using the Sao Paulo Epidemiologic Sleep Study (EPISONO). All participants underwent a full-night polysomnography and completed the Morningness-eveningness, Epworth Sleepiness Scale, and UNIFESP Sleep questionnaires. Chronotypes were classified as morning-type, evening-type, and intermediate. Morning-type individuals represented 52.1 % of the sample, followed by intermediate (39.5 %), and evening-type (8.4 %) individuals. After stratifying the sample by body mass index (BMI) (>26.8 kg/m2) and age (>42 years), we observed increased AHI values in morning- and evening-type individuals. We demonstrated, for the first time, an age- and BMI-related effect of morning- and evening-types in OSA severity, suggesting that the intermediate chronotype might play a role as a protective factor in older and overweight patients.

The Kleine–Levin Syndrome is a differential diagnosis for patients with diurnal excessive sleepiness and a suspicion of narcolepsy. It is characterized by paroxysmal attacks of diurnal excessive sleepiness, associated with one or more symptoms of hyperphagia, hypersexuality, coprolalia and copropraxia. During crisis intervals, there are no symptoms. This pathology predominantly manifests itself in teenagers, being more frequent among males. The course of this disease is unpredictable, with variable duration and frequency. The most accepted physiopathology is that of a hypothalamic dysfunction, although and recently, there has appeared a hypothesis of a post-infectious autoimmune disorder. These patients show an elevated body mass index, which can predispose to association with comorbidities such as the sleep obstructive apnea syndrome. Treatment involves medications with different effects, but there is no specific and effective therapy. Our article shows a classic case of Kleine–Levin Syndrome associated with sleep obstructive apnea syndrome, a rare association in the literature.

Narcolepsy type 1 is a sleep disorder characterized by excessive daytime sleepiness (EDS), sleep fragmentation, hypnagogic hallucinations, sleep paralysis, and cataplexy. Stimulant medications such as modafinil and amphetamines are the first-line medications for treating sleepiness. However, the management of narcolepsy during special circumstances of life such as pregnancy is complex. MMDM is a 34-year-old female with Narcolepsy type 1 treated with modafinil (400mg/d) and citalopram (20mg/d). Before she become pregnant, modafinil and citalopram were replaced for L-Carnitine 510mg/d with good outcome. She underwent an usual pregnancy and was submitted to a term cesarean delivery without child-birth complications. This is the first description of oral L-Carnitine such an alternative to treatment narcolepsy type 1 during pregnancy. Treat these patients is not easy but care narcolepsy pregnant is a challenging even bigger. In a disease without many treatment options, L-Carnitine can be used to treat daytime sleepiness during pregnancy in narcolepsy.