Search Results (43)

Background/Objectives: Smith–Magenis syndrome (SMS) is a rare neurogenetic disorder caused by a microdeletion in chromosome region 17p11.2 or by pathogenic variants in the RAI1 gene. The syndrome is characterized by a distinctive neurobehavioral profile, including cognitive deficits, sleep disturbances, self-injurious behavior, and typical dysmorphic features. A characteristic diagnostic hallmark is paradoxical melatonin secretion, with increased daytime levels instead of the normal nocturnal peak. This article aims to summarize current knowledge on the etiology, diagnostics, EEG findings, therapy, and prognosis of SMS from a neuropediatric perspective. Methods: A narrative review of the literature on Smith–Magenis syndrome was conducted, focusing on genetic background, clinical features, diagnostic approaches, EEG characteristics, therapeutic strategies, and prognosis. In addition, a detailed clinical case of a 16-year-old female patient with SMS is presented. Results: The reviewed data confirm that SMS is associated with characteristic neurobehavioral abnormalities and sleep–wake rhythm disturbances. EEG findings may include epileptiform activity without overt epilepsy. In the presented case, “Rolandic-type” spike–sharp wave complexes were observed on EEG and are interpreted as an expression of congenital disturbances in brain maturation processes. Therapeutic recommendations addressing behavioral symptoms and sleep regulation are discussed. Conclusions: Smith–Magenis syndrome represents a complex neurodevelopmental disorder with distinctive clinical, neurophysiological, and genetic features. Early recognition of characteristic signs, including sleep disturbances and EEG abnormalities, is essential for appropriate management. A multidisciplinary, individualized therapeutic approach may improve quality of life and long-term outcomes. Full article

Motor disorders are increasingly recognized as a significant complication of chronic kidney disease (CKD), yet they remain underdiagnosed, undertreated, and often overlooked in clinical practice. Patients with CKD experience a broad spectrum of motor disturbances, including restless legs syndrome, myoclonus, flapping tremor, periodic limb movements in sleep, Parkinsonism, and peripheral neuropathy. These disorders arise from complex and often overlapping mechanisms such as uremic neurotoxicity, vascular injury, electrolyte and hormonal imbalances, or inflammatory processes, reflecting the systemic impact of impaired renal function on the central and peripheral nervous systems. The presence of motor disorders in CKD is associated with substantial clinical consequences for quality of life, contributing to impaired mobility, persistent insomnia, daytime fatigue, higher fall risk, and diminished independence. Moreover, these disturbances have been linked to increased cardiovascular morbidity and mortality, further exacerbating the already high burden of disease in this population. Current management approaches focus on optimizing kidney function through dialysis or transplantation, pharmacological therapies such as dopaminergic agents, gabapentinoids, and iron supplementation, as well as non-pharmacological interventions including structured exercise programs and sleep hygiene measures. Despite these strategies, robust evidence on long-term outcomes, comparative effectiveness, and optimal treatment algorithms remains limited. Greater recognition of the clinical impact of motor disorders in CKD, combined with targeted research efforts, is urgently needed to improve patient-centered outcomes and guide evidence-based care. Full article

Background/Objectives: Delirium is a common and serious neurocognitive disorder among hospitalised adults, which is associated with prolonged hospital stays, increased treatment costs, and increased mortality. Nurses, as healthcare professionals in constant contact with patients, play crucial roles in the early recognition, prevention, and management of delirium. This systematic review aimed to synthesise the evidence on nursing roles and interventions in the recognition, prevention, and treatment of delirium in hospitalised adult patients. Methods: A systematic literature search was conducted in PubMed/MEDLINE, Scopus, and CINAHL/EBSCO for studies published between January 2015 and August 2025. The protocol was registered in PROSPERO. Results: Out of the 3791 records identified, 39 met the inclusion criteria. Studies included randomised controlled trials, systematic reviews, and cross-sectional studies conducted in various hospital settings. Key nursing roles included early detection of risk factors, routine use of tools (e.g., CAM, CAM-ICU, 4AT), and implementation of multicomponent nonpharmacological prevention programs for patients with delirium. The evidence regarding the effectiveness of nurse-led interventions has been mixed: several studies reported reductions in delirium incidence and duration with early mobilisation, sleep promotion, cognitive stimulation, pain control and family involvement, whereas others reported no statistically significant effects. Conclusions: Routine screening, targeted nonpharmacological interventions, and interdisciplinary collaboration are essential for improving delirium-related outcomes. However, the findings should be interpreted with caution due to differences in the study design, variability in nursing practice across countries, and language restrictions that may have limited the scope of the review. Further high-quality studies are needed to clarify the impact of specific nursing-led strategies on delirium outcomes. Full article

Objectives: The rapid aging of the U.S. population has raised concerns about age-related cognitive decline and Alzheimer’s disease. Therefore, we aimed to characterize diet quality, nutrient intake, and to examine the associations between specific dietary components and cognitive performance in older adults. Design: Cross-sectional observational study. Setting: Community-based recruitment. Participants: Data from 72 community-dwelling adults aged 65 years and older was analyzed. Measurements: Cognitive performance was assessed using subtests from the Consortium to Establish a Registry for Alzheimer’s Disease (CERAD) battery, evaluating episodic memory (Word List Memory/Recall/Recognition), visuospatial skills (Constructional Praxis), and executive function (Verbal Fluency). A composite cognitive score was calculated from memory and visuospatial subtests. Habitual dietary intake was evaluated using structured 24-h recalls to calculate nutrient intake and the Healthy Eating Index score, supplemented by the Short HEI questionnaire. Demographics, health history, depressive symptoms (Patient Health Questionnaire-9), and sleep quality (Pittsburgh Sleep Quality Index) were also collected. Results: Participants demonstrated suboptimal diet quality (mean HEI score 62.9 ± 10.69; recommended >80), with only 9.7% meeting fiber recommendations, 11% meeting calcium or vitamin A recommendations, and 1.4% meeting vitamin D requirements. In bivariate comparisons, higher cognitive performance was observed in younger participants (75.5 vs. 79.5 years; p < 0.01) and females (78% vs. 50%; p = 0.024). Regression models identified significant positive associations between cognitive scores and intakes of dietary fiber (p = 0.007), unsaturated fats (mono- and polyunsaturated; p = 0.012–0.033), protein (p = 0.018), carotenoids (α-carotene, p = 0.001; β-carotene, p = 0.026; lutein + zeaxanthin, p = 0.016), vitamins A (p = 0.044) and E (p = 0.034), and minerals including magnesium (p = 0.006), potassium (p = 0.004), copper (p = 0.008), zinc (p = 0.024), and calcium (p = 0.035). Refined grain intake was inversely associated with cognition (p = 0.011). Conclusions: In this population, dietary components like fiber and micronutrients were positively associated with better cognitive function, and the overall nutrient intake shortfalls observed highlight the need for targeted dietary interventions to support healthy brain aging. Therefore, this work advances our understanding by highlighting potential modifiable nutritional targets for clinical trials focused on delaying or preventing cognitive decline. Full article

Concussions significantly impact sleep quality among adolescents. Despite increasing recognition of these effects, the complex relationship between adolescent concussions and sleep disturbances is still not fully understood and presents mixed findings. Here, we conducted a systematic review and meta-analysis to assess how concussions affect sleep-related symptoms in adolescents. We included papers presenting Pittsburgh Sleep Quality Index (PSQI) differences following concussion in high school and collegiate patients, with sleep measures recorded following concussion. Animal studies, research on participants with conditions other than concussion, non-English articles and papers failing to present PSQI data were excluded. We searched MEDLINE^®, Embase^®, CINAHL, Web of Science™, PsycINFO^®, Google Scholar, and Cochrane Central Register of Controlled Trials databases until 23 August 2024. In addition, we performed hand-searching of relevant reference lists and conference proceedings to identify further studies. Risk of bias was assessed using the Newcastle–Ottawa scale. In total, we considered 4477 studies, with nine meeting the inclusion criteria. Our analysis involved 796 participants, 340 of whom had experienced a concussion. Analysis was carried out using the meta and metafor packages in R (version 4.0.0). We showed a deterioration in sleep quality post-concussion, as evidenced by increased PSQI (standardised mean difference 0.84; 95% CI 0.53–1.16; p < 0.0001). Subgroup and quality assessments confirmed the consistency of these findings. Since poor sleep quality impacts daytime activities, we analysed the relationship between concussion and daytime dysfunction. We showed that concussion is associated with a significant worsening of the daytime dysfunction score by 0.55 (95% CI 0.24–0.70; p = 0.006). We conclude that concussions impair both sleep quality and daytime functioning in adolescents. Our research underscores the need for systematic inclusion of sleep quality assessments in post-concussion protocols and calls for targeted interventions to manage sleep disturbances post-concussion to mitigate their broader impacts on daily functioning. Full article

Background/Objectives: Vestibular migraine is a frequently underdiagnosed cause of dizziness in adult females, often overlapping clinically with other vestibular and neurological conditions. Despite its recognition in diagnostic criteria, limited data exist on its prevalence and functional impact in women presenting with dizziness in clinical settings. This study assesses the frequency and diagnostic rate of vestibular migraine among females aged 20–50 years presenting with dizziness and evaluates its impact on quality of life and work productivity. Methods: A cross-sectional study was conducted, which included 196 female patients reporting dizziness who were evaluated. Vestibular migraine was diagnosed using ICHD-3 criteria. Functional impact was assessed using the Dizziness Handicap Inventory (DHI) and Work Productivity and Activity Impairment (WPAI) questionnaire. Group comparisons and regression analyses were conducted using SPSS version 24. Results: Vestibular migraine was diagnosed in 84 participants, yielding a prevalence rate of 42.86% (95% CI: 36.13–49.86%). Compared to non-migraine participants, those with vestibular migraine had longer dizziness duration (37.62 ± 11.34 vs. 24.58 ± 10.49 min, p = 0.032), higher DHI (58.34 ± 15.62 vs. 32.76 ± 14.83, p < 0.001) and WPAI scores (42.19 ± 13.45 vs. 23.47 ± 12.90, p < 0.001), and more missed workdays. Regression analysis identified vestibular migraine, poor sleep, anxiety/depression, and BMI as significant predictors of work impairment. Conclusions: Vestibular migraine is a prevalent and functionally disabling condition among women with dizziness, underscoring the importance of systematic diagnosis and multidisciplinary management. Full article

Insulin resistance (IR), a core component in the development of type 2 diabetes mellitus (T2DM), is increasingly recognized for its role in cardiovascular and pulmonary complications. This review explores the relationship between IR, right ventricular dysfunction (RVD), and decreased lung volume in patients with T2DM. Emerging evidence suggests that IR contributes to early structural and functional alterations in the right ventricle, independent of overt cardiovascular disease. The mechanisms involved include oxidative stress, inflammation, dyslipidemia, and obesity—factors commonly found in metabolic syndrome and T2DM. These pathophysiological changes compromise right ventricular contractility, leading to reduced pulmonary perfusion and respiratory capacity. RVD has been associated with chronic lung disease, pulmonary hypertension, and obstructive sleep apnea, all of which are prevalent in the diabetic population. As RVD progresses, it can result in impaired gas exchange, interstitial pulmonary edema, and exercise intolerance—highlighting the importance of early recognition and management. Therapeutic strategies should aim to improve insulin sensitivity and cardiac function through lifestyle interventions, pharmacological agents such as SGLT2 inhibitors and GLP-1/GIP analogs, and routine cardiac monitoring. These approaches may help slow the progression of RVD and its respiratory consequences. Considering the global burden of diabetes and obesity, and the growing incidence of related complications, further research is warranted to clarify the mechanisms linking IR, RVD, and respiratory dysfunction. Understanding this triad will be crucial for developing targeted interventions that improve outcomes and quality of life in affected patients. Full article

Pregnancy rhinitis (PR) is a transient, non-infectious nasal condition affecting a significant number of pregnant women, yet often remains underdiagnosed or misclassified. It can substantially impact maternal quality of life, sleep, and even fetal oxygenation. This narrative review explores the current understanding of PR, including hormonal and vascular mechanisms, clinical criteria, and therapeutic approaches considered safe during pregnancy. Despite increasing recognition, the differentiation between PR and other rhinitis forms remains challenging. Limited therapeutic options and the absence of standard diagnostic guidelines further complicate management. Evidence supports a multifactorial etiology involving estrogen, progesterone, and placental growth factors. Non-pharmacologic strategies are first-line, while pharmacological interventions are cautiously employed. PR is a distinct and clinically relevant condition requiring increased awareness among ENT and obstetric professionals. Future research should focus on standardized diagnostic criteria and evidence-based treatment protocols to improve maternal–fetal outcomes. Full article

Parkinson’s disease (PD) is a progressive neurodegenerative disorder primarily characterized by motor impairments resulting from dopaminergic neuron degeneration in the substantia nigra. However, PD is increasingly recognized as a multisystem disorder, where non-motor symptoms such as cognitive impairment, mood disturbances, sleep disorders, and autonomic dysfunction significantly impact patients’ quality of life. These non-motor symptoms often exhibit poor responsiveness to traditional dopaminergic therapies, underscoring a critical gap in current treatment strategies. Our systematic review investigates established methods of PD induction in rodent models and evaluates the methodologies used to assess non-motor symptoms. The review was performed following the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) and the Cochrane handbook. Thirty-two studies from 832 articles were included. The studies were characterized by MPTP, 6-OHDA, and rotenone. Our results indicate that there was considerable heterogeneity in behavioral and motor tests, which poses challenges for data comparability and highlights the lack of consensus regarding the most appropriate modeling strategies for specific PD-related behavioral outcomes. All three models demonstrated behavioral changes consistent with dopaminergic impairment when compared to control groups. MPTP-induced models showed significant non-motor deficits across various tests, except in social recognition and novelty-suppressed feeding. The 6-OHDA model consistently produced non-motor impairments, supporting its utility in replicating PD-like neurotoxicity. Rotenone-treated animals exhibited reduced social interaction, decreased sucrose preference, and increased immobility in behavioral assays, further supporting its validity. Overall, our findings indicate that these neurotoxin-based models are effective in reproducing non-motor symptoms of PD, though methodological heterogeneity highlights the need for greater standardization in future preclinical research. Full article

Machine learning models for personal informatics systems are typically trained offline on records of a specific population of users, resulting in population models. These models may suffer performance degradation in real-world settings due to domain shift, i.e., differences in data distributions across users and contexts. Domain adaptation techniques can address this issue by, e.g., personalizing models with user-specific data. In this paper, we quantify the impact of domain shift on the performance of both population and personalized models in a specific scenario: sleep quality recognition. To this end, we also collect and make available to the research community the new BiheartS dataset. Our analysis shows that domain shift causes the accuracy of population models to decrease by up to 18.54 percentage points, when used on new data. Personalized models, instead, show robust performance across datasets. However, crafting personalized models typically requires using new data or user-provided labels, limiting their applicability in real settings. To mitigate the limitations of both population and personalized models, we propose a novel unsupervised domain adaptation approach: the cluster-based population model (CBPM). CBPM achieves accuracy improvements of up to 13.45 percentage points w.r.t. population model without requiring the use of user-specific records or labels. Full article

In recent years, there has been a growing recognition within the medical community that idiopathic pulmonary fibrosis (IPF) cannot be effectively managed through a singular focus on the disease itself. Instead, a dual approach is essential, one that not only aims to prolong survival by targeting the underlying pathological mechanisms of IPF but also addresses the numerous comorbidities that frequently complicate the clinical picture for affected individuals. This narrative review seeks to provide a detailed and comprehensive exploration of the various comorbid conditions associated with IPF, which may include cardiovascular disease (CVD), lung cancer (LC), gastroesophageal reflux disease (GERD), obstructive sleep apnea (OSA), and anxiety/depression, among others. By understanding the interplay between these comorbidities and IPF, healthcare providers can better tailor treatment regimens to meet the holistic needs of patients. Furthermore, this review delves into both current management strategies and emerging therapeutic approaches for these comorbidities, emphasizing the importance of interdisciplinary collaboration in clinical practice. By synthesizing the latest research and clinical insights, this review aims to enhance awareness and understanding of the complexities surrounding IPF management, ultimately guiding clinicians in developing more effective, individualized care plans that address not only the fibrotic lung disease but also the broader spectrum of health challenges faced by patients. Through this comprehensive overview, we hope to contribute to the ongoing dialogue about improving quality of life and survival rates for individuals living with IPF. Full article

Introduction: Hypoglossal nerve stimulation (HNS) “Inspire_© therapy” has garnered popularity among obstructive sleep apnea (OSA) patients seeking an alternative to continuous positive airway pressure (CPAP) therapy. The growth in HNS has been particularly high in older adults living with OSA. Consistent and proper use of HNS in the geriatric population faces unique age-associated barriers: a high rate of multiple chronic conditions (MCC) and polypharmacy (being on five or more drugs). Early recognition and patient-centered management of these barriers will allow older patients to obtain maximum benefits from HNS. HNS has distinct advantages in the geriatric population because it overcomes many concerns related to CPAP therapy adherence, such as mechanical limitations due to manual dexterity, maxillofacial anatomy, dental issues such as usage of dentures, allergy/otolaryngology-related disorders, and pre-existing post-traumatic stress disorder-related claustrophobia. This paper describes how we worked with older patients with OSA and their care partners to overcome these barriers so patients can continue to derive cardiovascular, neurologic, and quality of life benefits resulting from optimal OSA management. These benefits are especially important in the older population because of higher rates of comorbidities (dementia, coronary artery disease, and atrial fibrillation) exacerbated by sub-optimally treated OSA. In this article, we describe our clinical experience with elderly patients on Inspire_© therapy, with a focus on the everyday difficulties faced by these patients and the measures implemented to address and mitigate these barriers. Methods: A retrospective chart review was conducted to identify patients aged 65 and above who underwent hypoglossal nerve stimulator insertion. Experiences of older patients during and after the insertion procedure were documented and compared to a younger population of patients on HNS therapy. We specifically collected information on difficulties encountered during activation or follow-up visits and compared them between the different age groups. Using this information, we identified areas to improve treatment adherence from the patients’ perspectives. Results: We identified 43 geriatric (65 to 86 years old) patients who received the Inspire implant at a tertiary academic medical center and compared them to a younger population of 23 patients. Most common challenges noted—with a potential to impact adherence—included orofacial and lingual neuropraxia (ischemic or demyelination-induced neuropathy) at activation, cognitive dysfunction (memory problems), preexisting anxiety, and insomnia. Other difficulties that are less commonly reported but equally important to consistent and proper use of HNS included headaches, concerns of device malfunction, change in comfort levels after cardiac procedures, and general intolerance of the device. The older patient population had a statistically significant higher incidence of cognitive difficulties (30.2% vs. 4.4%) and a smaller social support system (62.8% vs. 91.3%) affecting device usage compared to the younger population. There were no statistically significant differences in the rates of other more commonly reported adverse effects such as headaches, dry mouth, and anxiety between the two age groups. Conclusion: Despite several challenges faced by geriatric patients, Inspire_© hypoglossal nerve stimulation remains a viable, alternative treatment option for OSA with improved tolerance and adherence compared to CPAP. After identifying less commonly reported barriers such as cognitive decline, sensory deficits, and decreased social support systems, minor adjustments and appropriate education on use allows older patients to correctly use and benefit from Inspire_© device therapy, with subsequent improvement in sleep and overall quality of life. Full article

Non-visual techniques for identifying sleep postures have become essential for enhancing sleep health. Conventional methods depend on a costly professional medical apparatus that is challenging to adapt for domestic use. This study developed an economical airbag mattress and introduced a method for detecting sleeping positions via restricted body pressure data. The methodology relies on distributed body pressure data obtained from barometric pressure sensors positioned at various locations on the mattress. Two combinations of base learners were chosen based on the complementary attributes of the model, each of which can be amalgamated through a soft-voting strategy. Additionally, the architectures of Autoencoder and convolutional neural networks were integrated, collectively constituting the base learning layer of the model. Gradient enhancement was utilized in the meta-learner layer to amalgamate the output of the basic learning layer. The experimental findings indicate that the suggested holistic learning model has high classification accuracy of up to 95.95%, precision of up to 96.13%, and F1 index of up to 95.01% in sleep posture recognition assessments and possesses considerable merit. In the subsequent application, the sleep monitoring device identified the sleep posture and employed an air conditioner and an air purifier to create a more comfortable sleep environment. The user can utilize the sleep posture data to improve the quality of sleep and prevent related diseases. Full article

Objectives: This systematic review aimed to evaluate general dentists and dental specialists’ knowledge regarding obstructive sleep apnea (OSA) diagnosis, referral, risk factors, and treatment. Methods: A systematic search of databases, including Web of Science, PubMed, and ProQuest, was conducted for studies published up to 25 September 2023, following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Inclusion criteria included cross-sectional studies that assessed the knowledge of general dentists or dental specialists. A quality assessment was performed using the Newcastle–Ottawa Quality Assessment Scale. Results: The seven included studies demonstrated varied knowledge levels among respondents regarding polysomnography as the gold standard for diagnosing OSA, with percentages ranging from 40.18% to 90%. While recognition of craniofacial structure as a risk factor for OSA was consistently high, knowledge about body weight as a risk factor varied. Additionally, the understanding of continuous positive airway pressure as the standard treatment showed discrepancies across the studies. Conclusions: Given that some of the included articles displayed a moderate to high risk of bias, the results highlight the varying levels of OSA knowledge among dentists and specialists across the studies. This indicates a potential need for targeted educational programs to improve their understanding and management of OSA. Full article

In recent years, several studies have examined the impact of sleep-disordered breathing (SBD) on the quality of life and prognosis of patients with idiopathic pulmonary fibrosis (IPF). Among these disorders, obstructive sleep apnea (OSA) and nocturnal hypoxemia (NH) are the most prevalent and extensively studied, whereas central sleep apnea (CSA) has only been documented in recent research. The mechanisms underlying the relationship between IPF and SBDs are complex and remain an area of active investigation. Despite growing recognition of SBDs in IPF, no standardized guidelines exist for their management and treatment, particularly in a population characterized by distinct structural pulmonary abnormalities. This review outlines the pathophysiological connections between sleep-breathing disorders (SBDs) and idiopathic pulmonary fibrosis (IPF), as well as current therapeutic options. A comprehensive literature search using PubMed identified relevant studies, confirming the efficacy of CPAP in treating severe OSA and CSA. While high-flow oxygen therapy has not been validated in this patient cohort, it may offer a potential solution for select patients, particularly the elderly and those with low compliance. Conventional oxygen therapy, however, is limited to cases of isolated nocturnal hypoxemia or mild central sleep apnea. Full article