Journal Description
Clinical and Translational Neuroscience
Clinical and Translational Neuroscience
is an international, peer-reviewed, open access journal on neuroscience. The journal is owned by the Swiss Federation of Clinical Neuro-Societies and is published quarterly online by MDPI (from Volume 5 Issue 2-2021).
- Open Access— free for readers, with article processing charges (APC) paid by authors or their institutions.
- High Visibility: indexed within ESCI (Web of Science), EBSCO, and other databases.
- Rapid Publication: manuscripts are peer-reviewed and a first decision is provided to authors approximately 36.7 days after submission; acceptance to publication is undertaken in 4 days (median values for papers published in this journal in the first half of 2024).
- Recognition of Reviewers: APC discount vouchers, optional signed peer review, and reviewer names published annually in the journal.
- Journal Clusters-Neurosciences: Brain Sciences, Neurology International, NeuroSci, Clinical and Translational Neuroscience, Neuroglia, Psychiatry International, Clocks & Sleep and Journal of Dementia and Alzheimer's Disease.
Latest Articles
Clinical and Video-Oculographic Characteristics of Spinocerebellar Ataxia Type 27B (GAA-FGF14 Ataxia): A Single-Center Retrospective Study
Clin. Transl. Neurosci. 2024, 8(4), 29; https://doi.org/10.3390/ctn8040029 - 8 Oct 2024
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An intronic GAA repeat expansion in the FGF14 gene was recently identified as a common cause of autosomal dominant GAA-FGF14 ataxia (SCA27B). We aimed to characterize in detail the clinical and video-oculographic features in our cohort of SCA27B patients. We genotyped the
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An intronic GAA repeat expansion in the FGF14 gene was recently identified as a common cause of autosomal dominant GAA-FGF14 ataxia (SCA27B). We aimed to characterize in detail the clinical and video-oculographic features in our cohort of SCA27B patients. We genotyped the FGF14 GAA repeat expansion in 52 patients with unsolved late-onset cerebellar ataxia. Brain MRI and nerve conduction study, as well as video-oculographic (VOG) assessment, were performed. Eight patients (15.4%) with pathogenic GAA repeat expansion in the FGF14 gene were found. The median age at onset was 51 years (range—23–63 years). Sensory axonal neuropathy was found in 5/8 patients. Cerebellar atrophy was observed in 5/8 patients, and in one case, pontocerebellar atrophy was found. All tested patients had impaired smooth pursuit, 5/6 patients had impaired vestibulo-ocular reflex suppression, nystagmus, and an increased number of square wave jerks, 4/6 patients had horizontal gaze-evoked nystagmus, 3/6 had spontaneous downbeat nystagmus, and 1/6 had an upbeat one. Video head impulse test gain was lower than 0.8 on both sides in 2/4 patients, along with the presence of overt saccades. Further studies in different cohorts are needed to complete the phenotype of the FGF14-related disorders.
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Open AccessArticle
Assessment of Nurses’ Knowledge of the Glasgow Coma Scale in a Saudi Tertiary Care Hospital: A Cross-Sectional Study
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Roaa Alsharif, Salsabil Abo Al-Azayem, Nimah Alsomali, Wjoud Alsaeed, Nawal Alshammari, Abdulaziz Alwatban, Yaseen Alrabae, Razan Orfali, Faisal Alqarni and Ahmad Alrasheedi
Clin. Transl. Neurosci. 2024, 8(4), 28; https://doi.org/10.3390/ctn8040028 - 26 Sep 2024
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The Glasgow Coma Scale (GCS) is essential for assessing traumatic brain injury and predicting patient outcomes, yet studies indicate that nurses often have only a basic understanding of the GCS. In Saudi Arabia, research on this topic is limited, suggesting a need for
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The Glasgow Coma Scale (GCS) is essential for assessing traumatic brain injury and predicting patient outcomes, yet studies indicate that nurses often have only a basic understanding of the GCS. In Saudi Arabia, research on this topic is limited, suggesting a need for improvement in nurses’ GCS knowledge. This study aimed to evaluate the knowledge and proficiency of 199 staff nurses at King Fahd Medical City in Riyadh, Saudi Arabia, regarding GCS usage and to identify the factors impacting their competence. A descriptive, cross-sectional survey was conducted, and the data were analyzed using SPSS version 23.0. The results showed that 81.4% of nurses had an average level of GCS knowledge, with a mean score of 8.8 ± 1.826. Only 13.6% demonstrated good knowledge, while 5% had poor knowledge. A significant correlation was found between GCS knowledge and nurses’ departments (χ2(2) = 19.184, p < 0.001). The study concludes that GCS knowledge among nurses in this Saudi Arabian center is moderate, highlighting the need for continuous education programs to enhance their competence in GCS assessment.
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Open AccessArticle
Fractal Dimension Distributions of Resting-State Electroencephalography (EEG) Improve Detection of Dementia and Alzheimer’s Disease Compared to Traditional Fractal Analysis
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Keith J. Yoder, Geoffrey Brookshire, Ryan M. Glatt, David A. Merrill, Spencer Gerrol, Colin Quirk and Ché Lucero
Clin. Transl. Neurosci. 2024, 8(3), 27; https://doi.org/10.3390/ctn8030027 - 15 Aug 2024
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Across many resting-state electroencephalography (EEG) studies, dementia is associated with changes to the power spectrum and fractal dimension. Here, we describe a novel method to examine changes in the fractal dimension over time and within frequency bands. This method, which we call fractal
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Across many resting-state electroencephalography (EEG) studies, dementia is associated with changes to the power spectrum and fractal dimension. Here, we describe a novel method to examine changes in the fractal dimension over time and within frequency bands. This method, which we call fractal dimension distributions (FDD), combines spectral and complexity information. In this study, we illustrate this new method by applying it to resting-state EEG data recorded from patients with subjective cognitive impairment (SCI) or dementia. We compared the performance of FDD with the performance of standard fractal dimension metrics (Higuchi and Katz FD). FDD revealed larger group differences detectable at greater numbers of EEG recording sites. Moreover, linear models using FDD features had lower AIC and higher R2 than models using standard full time-course measures of the fractal dimension. FDD metrics also outperformed the full time-course metrics when comparing SCI with a subset of dementia patients diagnosed with Alzheimer’s disease. FDD offers unique information beyond traditional full time-course fractal analyses and may help to identify dementia caused by Alzheimer’s disease and dementia from other causes.
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Open AccessReview
Recommendations for the Treatment of Multiple Sclerosis in Family Planning, Pregnancy and Lactation in Switzerland: Immunotherapy
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Michael Graber, Alice Panchaud, Helene Legardeur, Tobias Derfuss, Christoph Friedli, Claudio Gobbi, Chiara Zecca, Cristina Granziera, Ilijas Jelcic, Helly Noemi Hammer, Sandra Bigi, Lara Diem, Nicole Kamber, Veronika Kana, Jens Kuhle, Stefanie Müller, Anke Salmen, Robert Hoepner, Philipp Do Canto, Marie Théaudin, Daniel Surbek, Caroline Pot and Andrew Chanadd
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Clin. Transl. Neurosci. 2024, 8(3), 26; https://doi.org/10.3390/ctn8030026 - 1 Aug 2024
Abstract
A large number of disease-modifying immunotherapies are available for the treatment of people with multiple sclerosis. Many disease-modifying immunotherapies show scarce or no safety data in pregnancy and breastfeeding and are labeled as being contraindicated during these periods in the Swiss summary of
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A large number of disease-modifying immunotherapies are available for the treatment of people with multiple sclerosis. Many disease-modifying immunotherapies show scarce or no safety data in pregnancy and breastfeeding and are labeled as being contraindicated during these periods in the Swiss summary of product characteristics. Some disease-modifying immunotherapies also have restrictions for male patients. Hence, family planning should always be considered in treatment decisions. If clinically necessary, the continuation of immunotherapy during pregnancy can be considered for some substances. In these situations, the “Good Off-Label Use Practice”, careful consideration of the benefit–risk profile, and interprofessional cooperation between the treating neurologist, obstetrician–gynecologist, and pharmacist/pharmacologist, ideally with the involvement of experienced centers, is necessary. Here, we present an update on disease-modifying immunotherapies in multiple sclerosis with a focus on family planning, pregnancy, and breastfeeding and provide consensus recommendations of the Medico-Scientific Advisory Board of the Swiss Multiple Sclerosis Society, the Swiss Neurological Society, and the Swiss Society for Gynecology and Obstetrics (represented by the Academy of Fetomaternal Medicine). These unified national recommendations are necessary, as guidelines from other countries differ and because of separate approval/reimbursement situations in Switzerland.
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Open AccessReview
Pediatric Narcolepsy Type 1: A State-of-the-Art Review
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Valentina Baldini, Francesco Biscarini, Giorgia Varallo, Fabio Pizza and Giuseppe Plazzi
Clin. Transl. Neurosci. 2024, 8(3), 25; https://doi.org/10.3390/ctn8030025 - 30 Jun 2024
Abstract
Narcolepsy is a chronic central disorder of hypersomnolence most frequently arising during childhood/adolescence. This review article examined the literature concerning the etiology, prevalence, clinical course, and treatment of children with type 1 narcolepsy (NT1). Core symptoms of pediatric NT1 include excessive daytime sleepiness
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Narcolepsy is a chronic central disorder of hypersomnolence most frequently arising during childhood/adolescence. This review article examined the literature concerning the etiology, prevalence, clinical course, and treatment of children with type 1 narcolepsy (NT1). Core symptoms of pediatric NT1 include excessive daytime sleepiness (EDS) and cataplexy, together with disrupted night sleep, sleep paralysis, and hypnagogic and hypnopompic hallucinations that can also occur. This disease frequently presents several comorbidities, such as obesity and precocious puberty, conditions ranging from psychological distress to psychiatric disorders, and cognitive aspects that further worsen the clinical picture. NT1 impairs the quality of life of children, thus calling for an early diagnosis and adequate treatment. To date, pharmacological treatments have been registered for childhood NT1 and can improve symptoms. Non-pharmacological approaches are also essential to improve patients’ well-being, ranging from behavioral treatments (e.g., planned napping) to psychosocial interventions (e.g., school programs). Multidisciplinary treatment management and early diagnosis are key factors in order to allow for adequate quality of life and development in children with NT1.
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(This article belongs to the Section Neuroscience/translational neurology)
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Open AccessConference Report
Abstracts of the Joint Annual Meeting 2024 of the Swiss Society of Neurosurgery (SSNS) and the Swiss Society of Neuroradiology (SSNR) Together with the Association of Neurosurgical Nursing Staff Switzerland
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Swiss Society of Neurosurgery (SSNS) and Swiss Society of Neuroradiology (SSNR)
Clin. Transl. Neurosci. 2024, 8(2), 24; https://doi.org/10.3390/ctn8020024 - 18 Jun 2024
Abstract
Main Topic: Artificial Intelligence and Digitalization: Applications to Neurosurgery and Neuroradiology. On behalf of the SSNS and SSNR, we are pleased to present the Abstracts of the Joint Annual Meeting, which is held at the Congress Kursaal Interlaken, Switzerland, 20–21 June 2024. In
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Main Topic: Artificial Intelligence and Digitalization: Applications to Neurosurgery and Neuroradiology. On behalf of the SSNS and SSNR, we are pleased to present the Abstracts of the Joint Annual Meeting, which is held at the Congress Kursaal Interlaken, Switzerland, 20–21 June 2024. In total, 62 abstracts were selected, of which 19 abstracts are oral presentations and 43 abstracts are for ePoster. We congratulate all the presenters on their research work and contribution.
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Open AccessReview
“Glymphatic” Neurodegeneration: Is Sleep the Missing Key?
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Luigi Ferini-Strambi and Maria Salsone
Clin. Transl. Neurosci. 2024, 8(2), 23; https://doi.org/10.3390/ctn8020023 - 7 Jun 2024
Abstract
Robust evidence suggests that the glymphatic system plays a key role in preserving brain health. Indeed, its activity in maintaining homeostasis by clearing neurotoxic proteins such as beta-amyloid from the human brain is essential. Sleep represents the factor that mainly influences this system,
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Robust evidence suggests that the glymphatic system plays a key role in preserving brain health. Indeed, its activity in maintaining homeostasis by clearing neurotoxic proteins such as beta-amyloid from the human brain is essential. Sleep represents the factor that mainly influences this system, since it is selectively active during the night, in particular during non-rapid eye movement (NREM) sleep. This is true, since the sleep head position, in particular the supine position for its relationship to the status of opening/closing of the jugular veins, appears to be determinant for the development of future neurodegeneration. Growing evidence from human and animal models highlights the neurobiological link between sleep, glymphatic dysfunction and neurodegeneration. On the other hand, several modifiable factors have been recently identified modulating (improve/reduce) glymphatic system activity, such as Omega-3 polyunsaturated fatty acids, stress, hypertension, physical activity, alcohol, gender and genetic predisposition, in particular variants of aquaporin-4 (AQP4). From this viewpoint, our ambition is to discuss how the glymphatic system works in the brain, what factors mainly impact on this activity and its strict relation with the neurodegeneration. Future directions might include the analysis of factors modulating glymphatic system activity and a personalized glymphatic profile, “glymphatom”, as a natural target for preventive neurodegenerative treatment.
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(This article belongs to the Special Issue Sleep–Wake Medicine)
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Open AccessConference Report
Abstracts of the 2024 Annual Meeting of the Swiss Neurological Society (SNS): Quo Vadis Neuroinflammation? From Pathophysiologic Advances to Novel Treatment Strategies
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Swiss Neurological Society (SNS)
Clin. Transl. Neurosci. 2024, 8(2), 22; https://doi.org/10.3390/ctn8020022 - 5 Jun 2024
Abstract
On behalf of the SNS, we are pleased to present the Abstracts of the Annual Meeting which is held at the Congress Center in Basel, Switzerland, from 6–7 June 2024. In total, 83 abstracts were selected, whereof we include 8 abstracts for the
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On behalf of the SNS, we are pleased to present the Abstracts of the Annual Meeting which is held at the Congress Center in Basel, Switzerland, from 6–7 June 2024. In total, 83 abstracts were selected, whereof we include 8 abstracts for the Plenary Sessions, 6 abstracts for the SAYN GemSession, 30 abstracts for Poster flash presentations, and 39 abstracts as ePosters. We congratulate all the presenters on their research work and contributions.
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Open AccessReview
How Adversarial REM Dreams May Facilitate Creativity, and Why We Become Aware of Them
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Nicolas Deperrois, Mihai A. Petrovici, Jakob Jordan, Lukas S. Huber and Walter Senn
Clin. Transl. Neurosci. 2024, 8(2), 21; https://doi.org/10.3390/ctn8020021 - 31 May 2024
Cited by 1
Abstract
The importance of sleep for healthy brain function is widely acknowledged. However, it remains unclear how the internal generation of dreams might facilitate cognitive processes. In this perspective, we review a computational approach inspired by artificial intelligence that proposes a framework for how
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The importance of sleep for healthy brain function is widely acknowledged. However, it remains unclear how the internal generation of dreams might facilitate cognitive processes. In this perspective, we review a computational approach inspired by artificial intelligence that proposes a framework for how dreams occurring during rapid-eye-movement (REM) sleep can contribute to learning and creativity. In this framework, REM dreams are characterized by an adversarial process that, against the dream reality, tells a discriminator network to classify the internally created sensory activity as real. Such an adversarial dreaming process is shown to facilitate the emergence of real-world semantic representations in higher cortical areas. We further discuss the potential contributions of adversarial dreaming beyond learning, such as balancing fantastic and realistic dream elements and facilitating the occurrence of creative insights. We characterize non-REM (NREM) dreams, where a single hippocampal memory is replayed at a time, as serving the complementary role of improving the robustness of cortical representations to environmental perturbations. We finally explain how subjects can become aware of the adversarial REM dreams, but less of the NREM dreams, and how content- and state-awareness in wake, dream, and lucid dreaming may appear.
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(This article belongs to the Special Issue Sleep–Wake Medicine)
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Open AccessStudy Protocol
The Supplementation Therapy in Autism and Response to Treatment (START) Study: An Open-Label Feasibility Trial of Ultramicronized Palmitoylethanolamide Potential to Alleviate Psychic Distress among Autistic Adults
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Riccardo Bortoletto, Marta Basaldella, Anna Candolo, Marco Garzitto, Carla Comacchio, Francesco Curcio, Martina Fabris, Stefano Fornasaro, Fabiana Piscitelli, Orietta Sepulcri, Matteo Balestrieri and Marco Colizzi
Clin. Transl. Neurosci. 2024, 8(2), 20; https://doi.org/10.3390/ctn8020020 - 29 May 2024
Cited by 1
Abstract
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by impaired social communication and restricted or repetitive behavior and interests. Psychic distress is common among individuals with ASD, especially in its milder form (level 1), with anxiety and depression being the most
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Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by impaired social communication and restricted or repetitive behavior and interests. Psychic distress is common among individuals with ASD, especially in its milder form (level 1), with anxiety and depression being the most common types. Recent research has identified neuroinflammation and gut dysbiosis as potential neurobiological mechanisms underlying ASD. Palmitoylethanolamide (PEA), an endocannabinoid (eCB)-like compound, has shown promise in modulating such mechanisms and may thus have therapeutic implications for ASD. To date, no clinical trial has evaluated the efficacy of PEA in adults with ASD. This 12-week open-label study will assess the feasibility, tolerability, safety, and efficacy of ultramicronized PEA (um-PEA) in treating symptoms of psychic distress, such as anxiety and depression, in adults with level 1 ASD. Secondary research endpoints will include um-PEA’s effects on levels of personal autonomy and neurocognitive and interpersonal function. From a biological point of view, this study will assess um-PEA’s effects on inflammatory markers, the metabolic profile, eCB system modulation, and microbial composition as potential mechanisms of action for its therapeutic effect. In conclusion, this study will investigate a novel approach to the treatment of adults presenting with psychic distress in the context of level 1 ASD. The results may provide valuable insight into the use of um-PEA as a treatment option for ASD adults, addressing a significant unmet clinical need.
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Open AccessCommunication
The International Master of Advanced Studies (MAS) in Sleep Medicine of the Universities of Bern and Svizzera Italiana
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Claudio L. A. Bassetti, Felicitas Sohm, Antoine Adamantidis, Kaspar Schindler, Fabrizio Barazzoni and Mauro Manconi
Clin. Transl. Neurosci. 2024, 8(2), 19; https://doi.org/10.3390/ctn8020019 - 10 Apr 2024
Abstract
Introduction: Sleep–wake circadian disorders (SWCDs) are very frequent and linked to major negative effects on the body, mental health, the brain, and on occupational and societal health. The prevention, diagnosis, and treatment of SWCDs and the promotion of sleep health require the sufficient
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Introduction: Sleep–wake circadian disorders (SWCDs) are very frequent and linked to major negative effects on the body, mental health, the brain, and on occupational and societal health. The prevention, diagnosis, and treatment of SWCDs and the promotion of sleep health require the sufficient education of general practitioners, specialists, and other health professionals. Unfortunately, education at pre- and postgraduate level is insufficient in most countries across the world. Aims and methods: This article describes the historical context, basic considerations, and methodological approach for the creation of the International Postgraduate Sleep Master by the University of Bern and Svizzera Italiana. Results: The postgraduate Master, which was launched in 2017, is a part-time, flexible course, taken over 2 ½ years, which targets health professionals, scientists, and technicians. After an initial introduction, which is the same for everybody (“common trunk”), the course can be individualized. The 12 modules of the Master include online lectures, schools, internships in a sleep center (in one of our 15 partner universities), case discussions and interactive sessions with students and internationally recognized experts from over 20 countries across the world, and culminates with a Master thesis. The program covers sleep–wake circadian biology; the management of SWCDs; disturbances of consciousness and sleep-related epilepsies; novel approaches in sleep medicine (e.g., clinical trials, telemedicine, data science, artificial intelligence); and topics of increasing relevance (e.g., neurodegenerative disorders, gender and diversity, sleep health, new technologies, artificial intelligence, professional and societal implications). Students are encouraged to also take “crash courses” in preparation for the national, European, and World sleep examinations. Conclusion: The Postgraduate University Sleep Master of the Universities of Bern and Svizzera Italiana offers a unique part-time, (mainly) virtual opportunity to acquire state-of the art knowledge, skills, and professional experiences to prepare for a clinical or scientific career in sleep medicine for physicians, scientists, and other health professionals.
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(This article belongs to the Special Issue Sleep–Wake Medicine)
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Open AccessArticle
Comparison of Aneurysmal and Non-Aneurysmal Spontaneous Cervical Artery Dissections in a Large Multicenter Cohort
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Valentin K. Steinsiepe, Hakan Sarikaya, Pasquale R. Mordasini, Susanne Wegener, Corinne Inauen, Philipp Baumgartner, Simon Jung, Kateryna Antonenko, Urs Fischer, Jan Gralla, Roza M. Umarova, Barbara Goeggel Simonetti, Constance J. H. C. M. van Laarhoven, Gert J. de Borst, Hugues Chabriat, Mirjam R. Heldner and Marcel Arnold
Clin. Transl. Neurosci. 2024, 8(2), 18; https://doi.org/10.3390/ctn8020018 - 6 Apr 2024
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Dissecting aneurysms in patients with spontaneous cervical artery dissections have, so far, been reported as “benign”, but more specific information is scarce. We aimed to elucidate (1) vascular risk factors, (2) local and ischemic symptoms, and (3) long-term prognosis compared to non-aneurysmal dissections.
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Dissecting aneurysms in patients with spontaneous cervical artery dissections have, so far, been reported as “benign”, but more specific information is scarce. We aimed to elucidate (1) vascular risk factors, (2) local and ischemic symptoms, and (3) long-term prognosis compared to non-aneurysmal dissections. This case–control study included consecutive patients with spontaneous cervical artery dissection from three university hospitals in Switzerland and France, evaluated at baseline and at 3 months. In addition, further follow-ups were performed at the discretion of the treating physician. Dissecting aneurysms were diagnosed with duplex sonography, magnetic resonance angiography, and/or digital subtraction angiography. Of 1012 patients, 151 (14.9%) presented with 167 dissecting aneurysms at baseline (n = 103) or follow-up (n = 64). The median follow-up was 24.9 months (IQR: 6.8–60.8). Compared to patients without a dissecting aneurysm there were no significant differences in the vascular risk factors or local symptoms (91.4 vs. 89.8%). Ischemic strokes at baseline were less common (29.1% vs. 54.4%; OR: 0.41; 95% CI: 0.28–0.60) in patients with a dissecting aneurysm, even after correction for the degree of stenosis of the dissected arteries (OR: 0.53; 95% CI: 0.34–0.81). Patients with a dissecting aneurysm more often had a favorable clinical outcome (modified Rankin Scale Score of 0–1) at 3 months (80.6% vs. 54.5%). There was no significant difference in recurrent cerebrovascular events at 3 months or overall. The lower rate of ischemic strokes at baseline may reflect a different pathogenic mechanism, such as a smaller initial tear in the vessel wall or an increased vessel caliber from an early or primary intramural hematoma with a different shape.
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Open AccessArticle
Foam Cells Analysis from Retrieved Stroke Clot for the Identification of Atherothrombotic Etiology
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Fabrizio Giammello, Antonio Ciacciarelli, Domenico Cosenza, Santi Galletta, Valeria Barresi, Paolino La Spina, Maria Carolina Fazio, Jolanda De Caro, Masina Cotroneo, Cristina Dell’Aera, Francesco Grillo, Serena Ammendola, Agostino Tessitore, Sergio Lucio Vinci, Rosa Fortunata Musolino, Carmela Casella and Antonio Toscano
Clin. Transl. Neurosci. 2024, 8(2), 17; https://doi.org/10.3390/ctn8020017 - 5 Apr 2024
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Background: In atherothrombotic acute ischemic stroke (AIS), when the atheroma breaks down, the clot can incorporate foam cells (FCs). The identification of the correct etiology is paramount for secondary stroke prevention. This study aims to evaluate the presence of the FC in
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Background: In atherothrombotic acute ischemic stroke (AIS), when the atheroma breaks down, the clot can incorporate foam cells (FCs). The identification of the correct etiology is paramount for secondary stroke prevention. This study aims to evaluate the presence of the FC in the arterial clot, and to determine whether patients with FCs and patients without FCs (NFCs) had different cerebrovascular risk factors, haemato-chemical parameters, and atherosclerotic disease incidence, in order to predict the etiological diagnosis. Methods: We collected 100 clots retrieved by mechanical thrombectomy from 495 consecutive AIS patients with large vessel occlusion. An expert pathologist evaluated the FC presence by histological examination stained with hematoxylin and eosin. Results: We observed FCs in 29/100 (29%) of retrieved clots and divided the patients into two groups, with/without FCs. The two groups had similar clinical and laboratory features, with a discrepancy between the FC presence in the clot and the clinical etiological diagnosis, even if not statistically significant. Conclusions: Our study showed the presence of FCs in approximately one-third of the retrieved clots, but the identification of the clot that presumably comes from the atheromatous plaque rupture tended to disagree with the clinical diagnosis. Future studies may reveal their potential to disclose clot origin or specific patient characteristics, guiding treatment options.
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Open AccessCase Report
Creutzfeldt–Jakob Disease Associated with E200K Mutation and SARS-CoV-2 Infection: Pure Coincidence or Neurodegenerative Acceleration?
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Elisa Colaizzo, Luca Prosperini, Antonio Petrucci and Alessia Perna
Clin. Transl. Neurosci. 2024, 8(2), 16; https://doi.org/10.3390/ctn8020016 - 26 Mar 2024
Cited by 1
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Several recent studies reported on some patients developing Creutzfeldt–Jakob disease (CJD) following coronavirus disease 2019, but, to the best of our knowledge, this case is the first reported in Italy on an onset of a CJD genetic form (gCJD) immediately after COVID-19 infection.
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Several recent studies reported on some patients developing Creutzfeldt–Jakob disease (CJD) following coronavirus disease 2019, but, to the best of our knowledge, this case is the first reported in Italy on an onset of a CJD genetic form (gCJD) immediately after COVID-19 infection. We present a 51-year-old woman with a positive family history for CJD, who, two months after a mild SARS-CoV-2 infection, presented a rapidly progressing dementia diagnosed as CJD through clinical features, imaging, electroencephalography, and cerebrospinal fluid analysis. Genetic testing revealed the E200K mutation (p.Glu200Lys) c.598G>A, with homozygosity for methionine (MET) at codon 129, thus confirming the diagnosis of Creutzfeldt–Jakob disease. She passed away two months later. Interestingly, our case confirms that homozygous E200K gCJD patients are characterized by a relatively younger age of onset; moreover, it also sheds light on the neurodegeneration underlying both prion diseases and COVID-19 infection. In our opinion, the rising global prevalence of neurodegenerative complications following COVID-19 disease adds urgency to the study of this potential relationship, mostly in elderly patients who may experience worse long-lasting outcomes systemically and within the nervous system.
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Open AccessCommunication
What Cluster Headache Patients Would Like Their Relatives to Know: Results from a Qualitative Study
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Papitha Saravanamuthu, Susanne Wegener and Heiko Pohl
Clin. Transl. Neurosci. 2024, 8(1), 15; https://doi.org/10.3390/ctn8010015 - 21 Mar 2024
Abstract
Many patients with cluster headaches report that their relatives do not understand what they are going through. This qualitative study aimed to collect patients’ recommendations and wishes on how others should respond to those suffering from cluster headaches. We recruited 22 patients with
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Many patients with cluster headaches report that their relatives do not understand what they are going through. This qualitative study aimed to collect patients’ recommendations and wishes on how others should respond to those suffering from cluster headaches. We recruited 22 patients with episodic or chronic cluster headaches for this cross-sectional study. They responded to seven questions that assessed the disease’s impact on their relationships with relatives and their wishes for others’ behaviour towards them. Seven recommendations for relatives emerged: (i) withdraw during attacks, (ii) respect post-ictal exhaustion, (iii) do not insist on discussing the disorder, (iv) help the patient to lead a “normal” life, (v) support preserving social contacts, (vi) show being aware of the disease severity, and (vii) expect the disease to take up space in patients’ lives and minds. Two recommendations for the interictal period indicate avoidance, which is considered a negative coping strategy. Conversely, the suggestion to support preserving social contacts might mean confronting the disease, which is likely associated with more favourable outcomes. Still, adhering to all patients’ requests might increase suffering instead of reducing it. Thus, further research is needed to develop strategies suited to improve well-being.
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Open AccessPerspective
The Swiss Sleep House Bern—A New Approach to Sleep Medicine
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Simone B. Duss, Albrecht P. A. Vorster, Antoine Urech, Wolfgang J. Schmitt, Jonas Beck, Daniella Hilt, Oriella Gnarra, Julia van der Meer, Marina Tüzün, Thomas Berger, Carolin Schäfer, Anne-Kathrin Brill, Markus H. Schmidt, Kaspar A. Schindler and Claudio L. A. Bassetti
Clin. Transl. Neurosci. 2024, 8(1), 14; https://doi.org/10.3390/ctn8010014 - 19 Mar 2024
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Sleep is essential for health, well-being, creativity, and productivity. Sleep loss and sleep–wake circadian disorders (SWCDs) affect at least one in three individuals but are underdiagnosed and undertreated for different reasons: First, the importance of sleep health and, second, the burden of sleep
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Sleep is essential for health, well-being, creativity, and productivity. Sleep loss and sleep–wake circadian disorders (SWCDs) affect at least one in three individuals but are underdiagnosed and undertreated for different reasons: First, the importance of sleep health and, second, the burden of sleep loss and SWCDs are underestimated. Third, education in sleep medicine is insufficient and health care-related sleep research is underdeveloped. Fourth, the validation and implementation of tele-sleep medicine approaches and novel devices to monitor SWCDs are still insufficient. Fifth, the reimbursement of sleep medicine in most countries is inadequate and the availability of specialized care is limited to a few centers. The Swiss Sleep House Bern (SSHB) was founded in 2022 to address these challenges and eventually promote better care for patients with SWCDs and improve sleep health for the broader population. The interdisciplinary and interprofessional team of the SSHB, which is integrated in the Bernese Interdisciplinary Sleep-Wake-Epilepsy Center, links sleep specialists with primary care providers to offer a rapid and accessible triage and first-level management of sleep complaints and SWCDs. The SSHB also promotes awareness and offers educational programs on sleep health and SWCDs, performs health care research, and fosters the implementation of new technologies, data science, and telemedicine into clinical routine.
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Open AccessOpinion
Sleep Research in the Era of AI
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Pinar Göktepe-Kavis, Florence M. Aellen, Sigurd L. Alnes and Athina Tzovara
Clin. Transl. Neurosci. 2024, 8(1), 13; https://doi.org/10.3390/ctn8010013 - 26 Feb 2024
Cited by 3
Abstract
The field of sleep research is both broad and rapidly evolving. It spans from the diagnosis of sleep-related disorders to investigations of how sleep supports memory consolidation. The study of sleep includes a variety of approaches, starting with the sole focus on the
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The field of sleep research is both broad and rapidly evolving. It spans from the diagnosis of sleep-related disorders to investigations of how sleep supports memory consolidation. The study of sleep includes a variety of approaches, starting with the sole focus on the visual interpretation of polysomnography characteristics and extending to the emergent use of advanced signal processing tools. Insights gained using artificial intelligence (AI) are rapidly reshaping the understanding of sleep-related disorders, enabling new approaches to basic neuroscientific studies. In this opinion article, we explore the emergent role of AI in sleep research, along two different axes: one clinical and one fundamental. In clinical research, we emphasize the use of AI for automated sleep scoring, diagnosing sleep-wake disorders and assessing measurements from wearable devices. In fundamental research, we highlight the use of AI to better understand the functional role of sleep in consolidating memories. While AI is likely to facilitate new advances in the field of sleep research, we also address challenges, such as bridging the gap between AI innovation and the clinic and mitigating inherent biases in AI models. AI has already contributed to major advances in the field of sleep research, and mindful deployment has the potential to enable further progress in the understanding of the neuropsychological benefits and functions of sleep.
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(This article belongs to the Special Issue Sleep–Wake Medicine)
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Open AccessEditorial
The Awakening of Sleep Medicine: A Global Quest for Quality Rest and Health
by
Raffaele Ferri
Clin. Transl. Neurosci. 2024, 8(1), 12; https://doi.org/10.3390/ctn8010012 - 19 Feb 2024
Abstract
The burden of sleep disorders is a global health concern that affects millions of people worldwide [...]
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(This article belongs to the Special Issue Sleep–Wake Medicine)
Open AccessReview
The Bidirectional Relationship between Sleep and Neurodegeneration: Actionability to Improve Brain Health
by
Abubaker Ibrahim, Birgit Högl and Ambra Stefani
Clin. Transl. Neurosci. 2024, 8(1), 11; https://doi.org/10.3390/ctn8010011 - 2 Feb 2024
Cited by 2
Abstract
Recently, it has become increasingly clear that there is a bidirectional relationship between sleep/circadian rhythms and neurodegeneration. Knowledge about this topic further improved after the description of the glymphatic system, which is mainly active during sleep. Changes in sleep and circadian rhythms are
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Recently, it has become increasingly clear that there is a bidirectional relationship between sleep/circadian rhythms and neurodegeneration. Knowledge about this topic further improved after the description of the glymphatic system, which is mainly active during sleep. Changes in sleep and circadian rhythms are present not only in overt neurodegenerative diseases but also in their early, prodromal, and preclinical phases, supporting that they precede (and contribute to) the development of neurodegeneration. This narrative review provides a brief overview of sleep and circadian rhythm disruption in neurodegeneration, highlights the bidirectional relationship between sleep changes and neurodegeneration, and addresses future perspectives, in particular, whether sleep changes are able to predict neurodegeneration and the potential sleep actionability to prevent or modulate the development of neurodegenerative diseases.
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(This article belongs to the Special Issue Sleep–Wake Medicine)
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Open AccessCommentary
Insomnia Guidelines—The European Update 2023
by
Dieter Riemann, Raphael J. Dressle and Kai Spiegelhalder
Clin. Transl. Neurosci. 2024, 8(1), 10; https://doi.org/10.3390/ctn8010010 - 26 Jan 2024
Cited by 1
Abstract
The last ten years have seen the development and publication of numerous national and international guidelines devoted to the diagnosis and treatment of insomnia. These include guidelines by the American College of Physicians (ACP), the American Academy of Sleep Medicine (AASM), the British
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The last ten years have seen the development and publication of numerous national and international guidelines devoted to the diagnosis and treatment of insomnia. These include guidelines by the American College of Physicians (ACP), the American Academy of Sleep Medicine (AASM), the British Sleep Society (BSS), the German Sleep Society (GSS), and the European Sleep Research Society (ESRS). Though coming from very diverse authors and backgrounds, these guidelines by and large agree concerning the therapeutic recommendations: cognitive behavioral treatment of insomnia (CBT-I), a multicomponent psychotherapeutic intervention, is unequivocally recommended as a first-line treatment. In this report, we will focus on the most recent guideline update from the ESRS, which was published in November 2023. After suggesting a careful diagnostic procedure, CBT-I, both applied face to face (F2F) or digitally (dCBT-I), is again recommended as a first-line treatment based on the available evidence. Hypnotic medications like benzodiazepines (BZ), benzodiazepine receptor agonists (BZRA), sedating antidepressants, and others are approved for short-term-treatment of up to four weeks. Orexin receptor antagonists (i.e., daridorexant) and prolonged release melatonin are considered as options for longer-term treatment when carefully considering the advantages and disadvantages. Both light therapy and exercise regimens were viewed as promising; however, they still lack convincing evidence for the time being. Given the fact that not every patient responds satisfactorily or even remits following CBT-I or other treatment options, the research agenda calls for the development and evaluation of new therapeutic avenues and combination therapies.
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(This article belongs to the Special Issue Sleep–Wake Medicine)
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