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Cyclic nucleotide phosphodiesterase (PDE) enzymes catalyze the breakdown of cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP), which act as intracellular second messengers for signal transduction pathways and modulate various processes in the central nervous system. Recent discoveries that mutations in genes encoding different PDEs, including PDE10A, are responsible for rare forms of chorea in children led to the recognition of an emerging role of PDEs in the field of pediatric movement disorders. A comprehensive literature review of all reported cases of PDE10A mutations in PubMed and Web of Science was performed in English. We included eight studies, describing 31 patients harboring a PDE10A mutation and exhibiting a hyperkinetic movement disorder with onset in infancy or childhood. Mutations in both GAF-A, GAF-B regulatory domains and outside the GAF domains of the PDE10A gene have been reported to cause hyperkinetic movement disorders. In general, patients with homozygous mutations in either GAF-A domain of PDE10A present with a more severe phenotype and at an earlier age but without any extensive abnormalities of the striata compared with patients with dominant variants in GAF-B domain, indicating that dominant and recessive mutations have different pathogenic mechanisms. PDE10A plays a key role in regulating control of striato-cortical movement. Comprehension of the molecular mechanisms within the cAMP and cGMP signaling systems caused by PDE10A mutations may inform novel therapeutic strategies that could alleviate symptoms in young patients affected by these rare movement disorders.
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Hipercinese , Mutação , Diester Fosfórico Hidrolases , Humanos , Diester Fosfórico Hidrolases/genética , Hipercinese/genética , CriançaRESUMO
Sleep disorders are prevalent among the general population and even more in individuals suffering from chronic diseases. Recent data reveal promising effects of physical exercise as a non-pharmacological approach for improving sleep and managing various sleep disorders. However, more studies with proper design and methodology should be conducted in the future to obtain a clearer understanding of the subject. The role of exercise in preventing and improving sleep disorders is probably much higher than what is currently exploited. To fully exploit the potential benefit of physical activity on sleep disorders in the future, it is necessary to identify the relevant tools to assess sleep-wake disorders and establish specific exercise protocols tailored to different sleep disorders. The present manuscript aims to review the literature on the use of exercise in managing selected sleep disorders. Regular exercise, including short-term aerobic activity, resistance training, and mind-body exercises, can effectively improve sleep quality, particularly in cases of insomnia and sleep-disordered breathing. Additionally, increasing evidence supports the effectiveness of aerobic and strength training, and body-mind exercises such as yoga in managing sleep-related movement disorders. Exercise can be a safe, affordable, and efficient tool in enhancing sleep quality and improving sleep disorders. Per se, regular exercise could play an adjuvant role alongside with established therapies, or a valid alternative when the pharmacological approach is limited by side effects, interactions, or inefficacy. More research is needed to define how exercise affects the physiology of sleep, and consequently how to use exercise in patients with sleep disorders.
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Important brainstem regions are involved in the regulation of rapid eye movement sleep. We hypothesized that brainstem stroke is associated with dysregulated rapid eye movement sleep and related muscle activity. We compared quantitative/qualitative polysomnography features of rapid eye movement sleep and muscle activity (any, phasic, tonic) between 15 patients with brainstem stroke (N = 46 rapid eye movement periods), 16 patients with lacunar/non-brainstem stroke (N = 40 rapid eye movement periods), 15 healthy controls (N = 62 rapid eye movement periods), and patients with Parkinson's disease and polysomnography-confirmed rapid eye movement sleep behaviour disorder. Further, in the brainstem group, we performed a magnetic resonance imaging-based lesion overlap analysis. The mean ratio of muscle activity to rapid eye movement sleep epoch in the brainstem group ("any" muscle activity 0.09 ± 0.15; phasic muscle activity 0.08 ± 0.14) was significantly lower than in the lacunar group ("any" muscle activity 0.17 ± 0.2, p < 0.05; phasic muscle activity 0.16 ± 0.19, p < 0.05), and also lower than in the control group ("any" muscle activity 0.15 ± 0.17, p < 0.05). Magnetic resonance imaging-based lesion analysis indicated an area of maximum overlap in the medioventral pontine region for patients with reduced phasic muscle activity index. For all groups, mean values of muscle activity were significantly lower than in the patients with Parkinson's disease and polysomnography-confirmed REM sleep behaviour disorder group ("any" activity 0.51 ± 0.26, p < 0.0001 for all groups; phasic muscle activity 0.42 ± 0.21, p < 0.0001 for all groups). For the tonic muscle activity in the mentalis muscle, no significant differences were found between the groups. In the brainstem group, contrary to the lacunar and the control groups, "any" muscle activity index during rapid eye movement sleep was significantly reduced after the third rapid eye movement sleep phase. This study reports on the impact of brainstem stroke on rapid eye movement atonia features in a human cohort. Our findings highlight the important role of the human brainstem, in particular the medioventral pontine regions, in the regulation of phasic muscle activity during rapid eye movement sleep and the ultradian distribution of rapid eye movement-related muscle activity.
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Doença de Parkinson , Transtorno do Comportamento do Sono REM , Acidente Vascular Cerebral , Humanos , Sono REM/fisiologia , Doença de Parkinson/complicações , Hipotonia Muscular/complicações , Transtorno do Comportamento do Sono REM/complicações , Músculos , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/diagnóstico por imagemRESUMO
Restless Legs Syndrome (RLS) is a sleep-related movement disorder, which can also result from brainstem pathology. A systematic review of articles published in the electronic databases PubMed and Web of Science was conducted to summarize the existent literature on RLS associated with a brainstem stroke. We identified eight articles including 19 subjects with RLS due to brainstem ischemic lesion. The symptoms occurred simultaneously with the infarction (66.7%) or few days after (33.3%). The most common location of infarction was pons and less commonly medulla. In most cases (68.4%), symptoms were unilateral. In the majority of those cases (92.3%), the contralateral limb was affected due to a lateral pons infarction. RLS symptoms after infarction improved or resolved in almost 90% of cases within a few days up to 3 months. In almost all patients who received dopaminergic treatment (11 out of 13, 91.7%), the symptoms improved significantly or resolved completely. Screening for RLS has to be considered in patients suffering a brainstem stroke, particularly anteromedial pontine infarction. The appearance of acute unilateral RLS symptoms, usually in association with other sensorimotor deficits, should prompt the clinician to consider a vascular event in the brainstem. RLS in these cases seem to have a favorable outcome and respond well to dopaminergic treatment.
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Infartos do Tronco Encefálico , Síndrome das Pernas Inquietas , Acidente Vascular Cerebral , Infartos do Tronco Encefálico/complicações , Infartos do Tronco Encefálico/diagnóstico por imagem , Infartos do Tronco Encefálico/patologia , Dopamina , Humanos , Ponte , Síndrome das Pernas Inquietas/tratamento farmacológico , Síndrome das Pernas Inquietas/etiologia , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/patologiaRESUMO
BACKGROUND: Different deep brain stimulation (DBS) targets have been suggested as treatment for patients with pharmacologically refractory Holmes tremor (HT). We report the clinical and quality of life (QoL) long-term (up to nine years) outcome in four patients with HT treated with DBS (in thalamic ventral intermediate nucleus-VIM or in dentato-rubro-thalamic tract-DRTT). MATERIALS AND METHODS: The patients underwent routine clinical evaluations before and after DBS (typically annually). Tremor severity and activities of daily living (ADL) were quantified by the Fahn-Tolosa-Marin Tremor-Rating-Scale (FTMTRS). QoL was assessed using the RAND SF-36-item Health Survey (RAND SF-36). In addition, we computed, in all four patients, the VTA based on the best stimulation settings using heuristic approaches included in the open source toolbox LEAD-DBS. RESULTS: In all patients, tremor and ADL improved significantly at one-year post-DBS follow-up (34-61% improvement in FTMTRS total score compared to baseline). In three out of four patients, the improvement of tremor was sustained no longer than two to three years and only in one patient was sustained up to nine years. In this patient, the largest intersection between VTA and DBS target has been observed. Scores for ADL deteriorated over the course of time, reaching worse levels compared to baseline already during the three-year post-DBS follow-up, in three out of four patients. Physical and mental health component scores of RAND SF-36 had very different outcome between patients and follow-ups and were not associated with tremor-related outcomes. CONCLUSIONS: The benefits of DBS in HT might not be always long lasting. Although QoL slightly improved, this change seemed to be independent of the motor outcome following DBS. The estimation of DBS target and VTA proximity could be a useful tool for DBS clinicians in order to facilitate the DBS programming process and optimize DBS treatment.
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Estimulação Encefálica Profunda , Tremor Essencial , Atividades Cotidianas , Tremor Essencial/terapia , Humanos , Neuroimagem , Qualidade de Vida , Resultado do Tratamento , Tremor/diagnóstico por imagem , Tremor/terapiaRESUMO
Focal Dystonia (FD) is a chronic neurological disorder, which causes twisting and repetitive movements and abnormal postures induced by involuntary sustained contractions of agonist and antagonist muscles. Based on the hypothesis that several dystonia-related brain regions, including cerebellum, are implicated in oculomotor disturbances (OCD), a number of studies investigated oculomotor function in patients with dystonia. However, conceptual clarity with respect to the used assessment tools and interpretation of the findings is lacking in the literature. This is the first article to systematically review studies that assessed oculomotor function in patients with FD. In total, 329 publications, published until September 1, 2019, were identified through MEDLINE search. Twenty out of 329 studies, involving 232 subjects in total, met the inclusion criteria. Most of the studies reported oculomotor disturbances in patients with FD. Abnormalities included asymmetry in vestibulo-ocular reflex (VOR), disturbances in saccadic functions, and prolonged latencies of eye motion. Discrepancies in the results could be explained, at least partially, by the long period of time over which the reviewed studies were published, the different methods used for testing the eye movements, and the limited number of patients assessed since the majority of data derived from case reports or small-scale studies. Further prospective studies with larger subject numbers are needed, using advanced tools for the assessment of oculomotor function in focal dystonia.
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Distúrbios Distônicos/complicações , Movimentos Oculares/fisiologia , Transtornos da Motilidade Ocular/etiologia , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
BACKGROUND: Although rapid eye movement sleep behaviour disorder (RBD) in Parkinson's disease (PD) is associated with increased non-motor symptoms, its impact on the deep brain stimulation (DBS) outcome remains unclear. This is the first study to compare the post-DBS outcome between PD patients with RBD (PD-RBD+) and without (PD-RBD-). METHODS: We analysed data from PD patients who were treated with bilateral DBS in the nucleus subthalamicus. Assessments included night-polysomnography (only pre-DBS), and motor and non-motor assessments pre-DBS and post-DBS. RESULTS: Among 50 PD patients (29 males, mean age 62.5 years, 11.8 mean PD years), 24 (48%) had RBD. Pre-DBS, the two groups were equal in respect to sociodemographic features, disease duration and PD medications. A multivariate analysis showed that the clinical profile linked to motor, non-motor and quality of life features differed significantly between PD patients with and without RBD. The most discriminative elements were Unified Parkinson's Disease Rating Scale (UPDRS)-III, apathy and depression scores. Post-DBS, UPDRS-III, Epworth sleepiness scale and PD questionnaire improved significantly in both groups. UPDRS-II scores significantly improved in the PD-RBD+ group (-45%) but remained unchanged in the PD-RBD- group (-14%). The depression score improved significantly in the PD-RBD+ (-34%) and remained unchanged in the PD-RBD- group. The apathy score remained unchanged in the PD-RBD+ group but increased significantly in the PD-RBD- group (+33%). CONCLUSION: While pre-DBS, PD patients with and without RBD showed different clinical profiles, post-DBS, the clinical profiles were comparable between the two groups. In respect to depressive symptoms, apathy and activities of daily living, PD-RBD+ patients show favourable post-DBS outcome. These findings highlight the importance of RBD assessment prior to DBS surgery.
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Estimulação Encefálica Profunda/métodos , Doença de Parkinson/complicações , Doença de Parkinson/terapia , Transtorno do Comportamento do Sono REM/complicações , Núcleo Subtalâmico , Atividades Cotidianas , Idoso , Apatia , Depressão/psicologia , Feminino , Humanos , Masculino , Testes de Estado Mental e Demência , Pessoa de Meia-Idade , Doença de Parkinson/psicologia , Polissonografia , Escalas de Graduação Psiquiátrica , Qualidade de Vida , Estudos Retrospectivos , Resultado do TratamentoRESUMO
PURPOSE OF REVIEW: Sleep-wake disorders (SWD) are common not only in the general population but also in stroke patients, in whom SWD may be pre-existent or appear "de novo" as a consequence of brain damage. Despite increasing evidence of a negative impact of SWD on cardiocerebrovascular risk, cognitive functions, and quality of life, SWD are insufficiently considered in the prevention and management of patients with stroke. This narrative review aims at summarizing the current data on the bidirectional link between SWD and stroke. RECENT FINDINGS: Several studies have demonstrated that sleep-disordered breathing (SDB) is an independent risk factor for stroke and has a detrimental effect on stroke recovery. Short and long sleep duration and possibly other SWD (e.g., insomnia, circadian rhythm disorders) may also increase the risk of stroke and influence its outcome. Data on SDB treatment increasingly indicate a benefit on stroke risk and evolution while treatment of other SWD is still limited. A systematic search for SWD in stroke patients is justified due to their high frequency and their negative impact on stroke outcomes. Clinicians should actively consider available treatment options.
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Síndromes da Apneia do Sono/complicações , Transtornos do Sono-Vigília/complicações , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/prevenção & controle , Lesões Encefálicas/complicações , Cognição , Humanos , Qualidade de Vida , Fatores de Risco , Distúrbios do Início e da Manutenção do Sono/complicações , Transtornos do Sono-Vigília/terapiaRESUMO
PURPOSE OF REVIEW: Review of the literature pertaining to clinical presentation, classification, epidemiology, pathophysiology, diagnosis, and treatment of sleep-related movement disorders and disturbances of motor control. RECENT FINDINGS: Sleep-related movement disorders and disturbances of motor control are typically characterized by positive motor symptoms and are often associated with sleep disturbances and consequent daytime symptoms (e.g. fatigue, sleepiness). They often represent the first or main manifestation of underlying disorders of the central nervous system, which require specific work-up and treatment. Diverse and often combined cause factors have been identified. Although recent data provide some evidence regarding abnormal activation and/or disinhibition of motor circuits during sleep, for the majority of these disorders the pathogenetic mechanisms remain speculative. The differential diagnosis is sometimes difficult and misdiagnoses are not infrequent. The diagnosis is based on clinical and video-polysomnographic findings. Treatment of sleep-related motor disturbances with few exceptions (e.g. restless legs/limbs syndrome) are based mainly on anecdotal reports or small series. SUMMARY: More state-of-the-art studies on the cause, pathophysiology, and treatment of sleep-related movement disorders and disturbances of motor control are needed.
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Transtornos dos Movimentos/terapia , Síndrome da Mioclonia Noturna/terapia , Transtornos do Sono-Vigília/terapia , Humanos , Transtornos dos Movimentos/fisiopatologia , Síndrome da Mioclonia Noturna/fisiopatologia , Síndrome das Pernas Inquietas , Transtornos do Sono-Vigília/fisiopatologiaRESUMO
BACKGROUND: Parasomnia overlap disorder (POD) is a distinct parasomnia and characterized by concomitant manifestation of rapid-eye-movement (REM)- and non-REM (NREM)-parasomnias. Although not uncommon among patients with Parkinson's disease, POD is often under-investigated. CASE PRESENTATION: This is the first report of patients with PD and features of POD that underwent deep brain stimulation. Our patients exhibited different outcomes of POD features after subthalamic deep brain stimulation. CONCLUSIONS: We expect that the reporting of these first patients will open the discussion about the need for more detailed and broad-spectrum assessments regarding parasomnias in PD patients that undergo deep brain stimulation. The implications of our observations are both clinical and neurobiological.
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Estimulação Encefálica Profunda , Parassonias/diagnóstico , Doença de Parkinson/complicações , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
BACKGROUND: Sleepwalking (SW) is found to affect children predominantly, but it can persist or appear de novo even among adults. In this study, we assessed the demographic, clinical and polysomnographic profile, trigger factors and associated comorbidities of adult-onset (AO-SW) and childhood-onset (CO-SW) adult sleepwalkers. METHODS: In adult sleepwalkers, a structured clinical interview, a battery of questionnaires, video-polysomnography (v-PSG) and standard electroencephalography (EEG) were performed. RESULTS: Among 63 sleepwalkers, 45% had ≥1 episodes/month, 54% had partial recall of the episodes and 36% reported trigger factors for SW. Almost all subjects reported co-occurring parasomnias. In v-PSG, 4% exhibited episodes of SW, 17% confusional arousals, 21% had an increased apnea-hypopnea-index and 6% exhibited features of an overlap parasomnia disorder. In our cohort, 73% reported CO-SW and 27% AO-SW. In subjects with AO-SW, positive family history for parasomnias was found in 33% (vs. 49% in CO-SW), neurological comorbidities in 44% (vs. 14%), psychiatric comorbidities in 25% (vs. 33%), EEG abnormalities in 50% (vs. 29%). Violence during SW episodes was more frequent in males and in subjects with CO-SW (45% for self-injury and 44% for violent behaviour vs. 33 and 29% respectively in the AO-SW group). CONCLUSIONS: Adult SW represents a complex and potentially dangerous condition. The characteristics of AO-SW often differ from those of CO-SW.
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Sonambulismo/etiologia , Sonambulismo/fisiopatologia , Adulto , Criança , Estudos de Coortes , Eletroencefalografia , Feminino , Humanos , Masculino , Polissonografia , Inquéritos e QuestionáriosRESUMO
PURPOSE OF REVIEW: Review of recent literature pertaining to frequency, associations, mechanisms, and overall significance of sleep--wake disturbances (SWD) in the premotor and early phase of Parkinson's disease. RECENT FINDINGS: SWD are frequent in Parkinson's disease and their prevalence increases with disease progression. Recent studies confirm previous findings that SWD can appear as initial manifestation of Parkinson's disease even decades before motor signs appear and highlight their clinical associations in these early stages. More intriguingly, new evidence underpins their role as risk factors, predictors, or even as driving force for the neurodegenerative process. As our understanding of sleep--wake neurobiology increases, new hypotheses emerge concerning the pathophysiology of SWD in early Parkinson's disease stages involving dopaminergic and nondopaminergic mechanisms. SUMMARY: SWD are predictors for the development of parkinsonian syndromes including Parkinson's disease. This may offer the opportunity of developing new preventive strategies and interventions at an early stage of this neurodegenerative disease.
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Doença de Parkinson/complicações , Transtornos do Sono-Vigília/etiologia , Sono/fisiologia , Progressão da Doença , Humanos , Doença de Parkinson/fisiopatologia , Transtornos do Sono-Vigília/fisiopatologiaRESUMO
Pannexin 1 (Px1, Panx1) and pannexin 2 (Px2, Panx2) form large-pore nonselective channels in the plasma membrane of cells and were suggested to play a role in the pathophysiology of cerebral ischemia. To directly test a potential contribution of pannexins in ischemia-related mechanisms, we performed experiments in Px1(-/-), Px2(-/-), and Px1(-/-)Px2(-/-) knockout mice. IL-1ß release, channel function in astrocytes, and cortical spreading depolarization were not altered in Px1(-/-)Px2(-/-) mice, indicating that, in contrast to previous concepts, these processes occur normally in the absence of pannexin channels. However, ischemia-induced dye release from cortical neurons was lower, indicating that channel function in Px1(-/-)Px2(-/-) neurons was impaired. Furthermore, Px1(-/-)Px2(-/-) mice had a better functional outcome and smaller infarcts than wild-type mice when subjected to ischemic stroke. In conclusion, our data demonstrate that Px1 and Px2 underlie channel function in neurons and contribute to ischemic brain damage.
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Conexinas/metabolismo , Regulação da Expressão Gênica , Isquemia/patologia , Proteínas do Tecido Nervoso/metabolismo , Doenças Neurodegenerativas/metabolismo , Trifosfato de Adenosina/química , Animais , Isquemia Encefálica/patologia , Conexinas/genética , Junções Comunicantes , Infarto da Artéria Cerebral Média/patologia , Interleucina-1beta/metabolismo , Macrófagos/metabolismo , Camundongos , Camundongos Knockout , Camundongos Transgênicos , Proteínas do Tecido Nervoso/genética , Neurônios/metabolismoRESUMO
Stem cells, renowned for their unique regenerative capabilities, present significant hope in treating stroke, a major cause of disability globally. This review offers a detailed analysis of stem cell applications in stroke (ischemic and hemorrhagic) recovery. It examines therapies based on autologous (patient-derived), allogeneic (donor-derived), and Granulocyte-Colony Stimulating Factor (G-CSF) based stem cells, focusing on cell types such as Mesenchymal Stem/Stromal Cells (MSCs), Bone Marrow Mononuclear Stem Cells (BMMSCs), and Neural Stem/Progenitor Cells (NSCs). The paper compiles clinical trial data to evaluate their effectiveness and safety and addresses the ethical concerns of these innovative treatments. By explaining the mechanisms of stem cell-induced neurological repair, this review underscores stem cells' potential in revolutionizing stroke rehabilitation and suggests avenues for future research.
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Acidente Vascular Cerebral , Humanos , Acidente Vascular Cerebral/tratamento farmacológico , Células-Tronco , Fator Estimulador de Colônias de Granulócitos/farmacologia , Fator Estimulador de Colônias de Granulócitos/uso terapêutico , Transplante Autólogo , Terapia Baseada em Transplante de Células e TecidosRESUMO
The global deployment of SARS-CoV-2 vaccines has been pivotal in curbing the COVID-19 pandemic, reducing morbidity and mortality associated with the virus. While most of these vaccines have demonstrated high efficacy and overall safety, emerging reports have highlighted potential neurovascular adverse effects, albeit uncommon, associated with these vaccinations. This review aims to assess and summarize the current knowledge on the neurovascular complications arising post-SARS-CoV-2 vaccination. We conducted an extensive literature review, focusing on clinical studies and case reports to identify reported neurovascular events, such as ischemic stroke, cerebral sinus venous thrombosis, intracerebral hemorrhage, pituitary apoplexy and primary CNS angiitis Despite the relative rarity of these events, their impact on affected individuals underscores the importance of ongoing surveillance, early detection, and management strategies. We aim to provide healthcare professionals with the latest evidence on neurovascular adverse effects, facilitating informed decision-making in the context of SARS-CoV-2 vaccination programs. Furthermore, we highlight areas requiring further research to understand the pathophysiology of these adverse events better and to develop targeted prevention and treatment strategies.
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Vacinas contra COVID-19 , COVID-19 , Humanos , Vacinas contra COVID-19/efeitos adversos , Vacinas contra COVID-19/administração & dosagem , COVID-19/prevenção & controle , Vacinação/efeitos adversos , SARS-CoV-2/imunologiaRESUMO
BACKGROUND & AIMS: Over the years, there is a rapid increase in the prevalence of inadequate sleep and its detrimental consequences. Yet, the impact of prolonged nutritional interventions on sleep optimization remains unexplored. To examine the effect of carbohydrate manipulation combined with exercise training on sleep macro-structure. METHODS: Forty-two healthy, trained male volunteers were recruited for this study. The 4-week intervention consisted of three groups: i) Sleep Low-No Carbohydrates (SL-NCHO): participants consumed all their carbohydrate intake at regular intervals prior to evening training, ii) Sleep High-Low Glycemic Index (SH-LGI) and iii) Sleep High-High Glycemic Index (SH-HGI): Carbohydrate intake was spread throughout the day, both prior (60% of total CHO intake) and after evening training (40% of total CHO intake). The SH-LGI and SH-HGI groups differentiated by consuming either LGI or HGI foods in the evening, respectively. Alongside, participants performed a standardized exercise program combining resistance exercise and high-intensity interval training. Participants' sleep macro-structure was assessed with polysomnography, actigraphy, sleep diary, and sleep-wake questionnaires. RESULTS: Objective assessments revealed a substantial time-effect on sleep initiation, duration, and continuity. After the intervention, sleep onset latency decreased (p < 0.001), sleep duration was prolonged (p = 0.006), sleep efficiency increased (p < 0.001), and wake after sleep onset decreased (p = 0.035). Sleep macroarchitecture did not significantly change, while the percentage of REM sleep stage to the total sleep time increased over time (p < 0.01). Consistent with the objective findings, subjects reported improved subjective sleep quality (p = 0.043) and reduced daytime sleepiness (p = 0.047). CONCLUSION: The combination of a personalized dietary plan with exercise training enhances sleep initiation, sleep continuity, sleep duration, REM and N1 sleep stages, independently of carbohydrate type or timing. Lifestyle interventions should be investigated further to promote sleep quality and recovery. REGISTRATION: The trial was registered at clinicaltrials.gov as NCT05464342.
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Qualidade do Sono , Sono , Masculino , Humanos , Polissonografia , Actigrafia , CogniçãoRESUMO
OBJECTIVES: The aim of this study was to determine the prevalence of restless leg syndrome (RLS) among patients with SLE, describe their clinical characteristics, examine its impact on health-related quality of life (HRQoL), and evaluate its association with depression. METHODS: A total of 124 SLE patients were recruited, with data on demographics, and clinical features collected. RLS diagnosis was based on the international RLS study group criteria, while depression was assessed by the patient health questionnaire. HRQoL was assessed by a disease-specific validated questionnaire, the LupusQoL, pain intensity was examined through the pain visual analogue scale, and disease activity was evaluated via the patient global assessment. These variables were compared between SLE patients with RLS and without RLS using t-tests or Wilcoxon and the chi-square test of independence for categorical variables. A p-value ≤0.05 was considered statistically significant. RESULTS: Among the SLE patients (mean age 48, 87.1 % women), 32 % had RLS. The SLE patients with RLS were found to have a longer delay in diagnosis (1 vs 0.5 years; p = 0.019) and were less likely to be employed (65 % vs 45 %, p = 0.040) compared to non-RLS patients. In addition, RLS patients were more likely to have coexisting Major Depressive Disorder (MDD) (p = 0.019), higher levels of pain (p = 0.006) and disease activity based on patient global assessment (p = 0.014). Further, most of the domains of LupusQoL were significantly lower in the RLS patients group suggesting a worse HRQoL. CONCLUSION: RLS was present in one-third of the SLE cohort, significantly impairing HRQoL and correlating with depression, higher pain, and increased disease activity. These findings underscore the importance of early RLS detection and management in SLE patients.
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Depressão , Lúpus Eritematoso Sistêmico , Qualidade de Vida , Síndrome das Pernas Inquietas , Humanos , Síndrome das Pernas Inquietas/epidemiologia , Síndrome das Pernas Inquietas/psicologia , Feminino , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/psicologia , Lúpus Eritematoso Sistêmico/epidemiologia , Masculino , Pessoa de Meia-Idade , Depressão/epidemiologia , Inquéritos e Questionários , Prevalência , Adulto , Medição da DorRESUMO
STUDY OBJECTIVES: The aim of this cross-sectional study is to explore the association between serum 25-hydroxyvitamin D [25(OH)D] levels, a marker of Vitamin D status, and excessive daytime sleepiness (EDS), expressed as increased scores of the Epworth Sleepiness Scale (ESS), in a group of prospectively enrolled patients with obstructive sleep apnea (OSA). METHODS: Newly diagnosed patients with OSA, divided into two groups, those with EDS (ESS > 10) and those without EDS (ESS < 10). All patients underwent night polysomnography. Measurement of serum 25(OH)D vitamin was performed using a radioimmunoassay. RESULTS: In total, 217 patients with OSA (197 males and 20 females) were included. Patients with EDS had higher AHI (p < 0.001) values and lower mean serum 25(OH)D levels, compared with those of non-somnolent patients [17.4 (12.2-25.7) versus 21.1 (15.3-28.8) ng/mL, respectively, p = 0.005]. In patients with EDS, serum 25(OH)D levels correlated with average oxyhemoglobin saturation during sleep (r = 0.194, p = 0.043), and negatively with ESS score (r = -0.285, p = 0.003), AHΙ (r = -0.197, p = 0.040) and arousal index (r = -0.256, p = 0.019). Binary regression analysis identified Vit D serum levels (ß = -0.045, OR: 0.956, 95% CI: 0.916-0.997, p = 0.035), total sleep time (ß = 0.011, OR: 1.011, 95% CI: 1.002-1.021, p = 0.016) and AHI (ß = 0.022, OR: 1.022, 95% CI: 1.003-1.043, p = 0.026) as independent predictors of EDS in patients with OSA. In patients with EDS, multiple regression analysis indicated that ESS score was negatively associated with Vit D serum levels (ß = -0.135, p = 0.014) and minimum oxyhemoglobin saturation during sleep (ß = -0.137, p = 0.043). CONCLUSIONS: In the present study, EDS in patients with OSA is associated with low levels of Vitamin D, while sleep hypoxia may play a role in this process.
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The purpose of our study was to obtain evidence that an unsupervised tele-exercise program (TEgroup) via an online platform is a feasible alternative to a hybrid mode of supervised and unsupervised exercise (HEgroup) sessions for improving fitness indexes, respiratory and cognitive functions, and biomarkers of oxidative stress in patients recovering from COVID-19. Forty-nine patients with long post-COVID-19 were randomly divided into two groups (HEgroup: n = 24, age 60.0 ± 9.5 years versus TEgroup: n = 25, age 58.7 ± 9.5 years). For each patient, we collected data from body composition, oxidative stress, pulmonary function, physical fitness, and cognitive function before and after the 12-week exercise rehabilitation program (ERP). Our data showed differences in both groups before and after 12-week ERP on fitness indicators, body composition, and pulmonary function indicators. Our findings demonstrated differences between groups after 12-week ERP on adjustment in the domains of cognitive function (HEgroup increased the "visuospatial" domain: 3.2 ± 1.1 versus 3.5 ± 0.8 score, p = 0.008 and TEgroup increased the "memory" domain: 3.3 ± 1.0 versus 3.8 ± 0.5 score, p = 0.003; after 12-week ERP showed differences between groups in domain "attention" TEgroup: 4.8 ± 1.5 versus HEgroup: 3.6 ± 1.8 score, p = 0.014) and the diffusing capacity for carbon monoxide (HEgroup increased the percent of predicted values at 0.5 ± 32.3% and TEgroup at 26.0 ± 33.1%, p < 0.001). These findings may be attributed to the different ways of learning exercise programs, resulting in the recruitment of different neural circuits.
RESUMO
Movement disorders can be a prominent feature in autoimmune encephalitis. Here we present a rare case of a 73-year-old woman, who presented with a complex phenotype with encephalopathy, parkinsonism, cervical dystonia, left-sided hemidystonia and hemifacial spasm of subacute onset and was found to have breast cancer and positive anti-Glycine Receptor (GlyR) and Myelin Oligodentrocyte Glycoprotein (MOG) antibodies.