Clinical and Translational Neuroscience最新文献

{"title":"Restless Sleep Disorder and the Role of Iron in Other Sleep-Related Movement Disorders and ADHD","authors":"Noemi Cameli, Annachiara Beatrice, Elisa Maria Colacino Cinnante, Claudia Gullace, Giuliana Lentini, Sara Occhipinti, R. Ferri, O. Bruni","doi":"10.3390/ctn7030018","DOIUrl":"https://doi.org/10.3390/ctn7030018","url":null,"abstract":"In the last few years, restless sleep has been described as the key element of many clinical issues in childhood, leading to the recognition of “restless sleep disorder” (RSD) as a new proposed diagnostic category. The essential aid of video-polysomnographic recordings enables detection and quantification of the “large muscle group movements” (such as limb movements and repositioning) frequently described by parents of children with RSD. Strong evidence links iron deficiency to the pathophysiology of sleep-related movement disorders such as RSD, restless legs syndrome, periodic limb movement disorder, and attention deficit hyperactivity disorder (ADHD) due to the important role played by the brain dopamine production system. Serum ferritin is the main parameter used to evaluate iron deficiency in patients with sleep-related movement disorders. Iron supplementation is recommended when the serum ferritin level is <50 ng/mL, since the literature emphasizes the correlation between lower levels of serum ferritin, serum iron, and cerebrospinal fluid ferritin, and increased symptom severity. Moreover, several studies report an improvement in symptoms when ferritin levels are kept above 50 ng/mL. In this narrative review, we discuss the role of iron in sleep-related movement disorders, as well as ADHD, highlighting not only the connection between these two conditions, but also the relevance of iron supplementation for symptom improvement.","PeriodicalId":242430,"journal":{"name":"Clinical and Translational Neuroscience","volume":"4 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127974387","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Approaching Headaches—A Guide to Differential-Diagnostic Considerations and Causal Claims","authors":"Heiko Pohl","doi":"10.3390/ctn7030017","DOIUrl":"https://doi.org/10.3390/ctn7030017","url":null,"abstract":"Headaches can be nociplastic, neuropathic, and nociceptive. Pain related to the latter two categories occurs in the presence of nerve lesions and nociceptive stimuli; attributing pain to the last category requires a list of potential causes and arguments supporting the causal claim. Taking a history and examining patients serves to assess diagnostic criteria and screen for disorders whose diagnosis requires additional examinations. Screening information occurs in two types: one indicates that patients have a headache due to another condition; the other suggests they are at risk. Aspiring to make causal claims for a headache is reasonable because if underlying disorders appear independently and randomly, it is probable that there is only one cause. Thus, having found a cause often implies having found the cause. The prerequisites for causal claims are temporal sequencing, correlation, and elimination of alternate causes. Mechanistic, manipulative, and probabilistic evidence supports the second criterion. The importance of headaches lies in their frequent appearance as an early symptom of an incipient disorder (“sentinel symptom”). Hence, they provide the opportunity to diagnose early diseases with potentially deleterious consequences. Thus, it is sensible to assess each attack carefully and systematically.","PeriodicalId":242430,"journal":{"name":"Clinical and Translational Neuroscience","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129564365","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Turkish Validity and Reliability Study of the Swiss Narcolepsy Scale","authors":"A. Demir, P. Bargiotas, Deniz Tuncel Berktaş, S. Ismailogullari, U. Akyıldız, D. Karadeniz, G. Şenel, C. Bassetti","doi":"10.3390/ctn7030016","DOIUrl":"https://doi.org/10.3390/ctn7030016","url":null,"abstract":"Background: The clinical evaluation of a patient complaining of excessive daytime sleepiness is of crucial importance for the diagnosis of narcolepsy. The Swiss Narcolepsy Scale (SNS) was developed in 2004 as a screening tool for patients with narcolepsy and shown in three different studies to have a high sensitivity and specificity for narcolepsy type 1 (NT1). The aim of this study was to assess the validity and reliability of the Turkish version of SNS (SNS-TR). Patients and Methods: Twenty-one healthy controls, 26 patients with idiopathic hypersomnia, and 27 patients with narcolepsy were recruited from five accredited sleep centers in Turkey. Pearson’s correlation coefficient and degree of freedom were used to determine the validity of each question. Cronbach’s alpha was calculated to assess the internal consistency or reliability of Likert-type questions. The inter-rater reliability was tested using Cohen’s kappa analysis, and the intra-class correlation coefficient (ICC) was used to evaluate the validity and reliability between two evaluations with a one-month interval. Results: Sensitivity and specificity of SNS-TR were 90.5% and 100%, respectively, for diagnosing NT1. Cronbach’s alpha was 0.976, showing a highly reliable level of internal consistency. The inter-rater reliability of the questions and the validity and reliability between two evaluations were moderate or above. Conclusion: This study provides evidence for the validity and reliability of SNS-TR in diagnosing and discriminating NT1 from other disorders of hypersomnolence with a very high sensitivity and specificity.","PeriodicalId":242430,"journal":{"name":"Clinical and Translational Neuroscience","volume":"28 7 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125692513","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Is the Proof in the Pain? Association between Head and Neck Pain and Vessel Pathology at Follow-Up in Cervical Artery Dissection: A Retrospective Data Analysis","authors":"J. Baumann, Miranda Stattmann, S. Wegener","doi":"10.3390/ctn7020015","DOIUrl":"https://doi.org/10.3390/ctn7020015","url":null,"abstract":"Unilateral head and neck pain is a hallmark of cervical artery dissection (CAD). While pain is conceived as an alarming sign for patients and often leads to discovery of the dissection, it is not known if persistence of pain is associated with the course of CAD. Potentially, pain could indicate persisting vessel pathology and thus guide treatment decisions aimed at reducing risk of ischemic stroke in CAD. We performed a retrospective analysis of data from patients with CAD treated at the University Hospital Zurich (USZ). Only patients with information about the presence of pain, independence after CAD according to the modified Rankin scale (mRS), and imaging-based information on vessel status were included. Patients were grouped according to presence/absence of head and/or neck pain on admission and at a three-month follow-up. We used descriptive statistics and logistic regression to reveal a potential association between pain on admission and pain at follow-up with status of the dissected vessel at follow-up (open vs. stenosed or occluded). We screened 139 patients with CAD between 2014 and 2019 and included 68. Fifty-nine patients (86.8%) had pain on admission, which was resolved in 46 (68%) at follow-up. Our post hoc analysis revealed that more patients with headache or neck pain on admission had a migraine diagnosis in medical history (n = 7 (10.4%) vs. n = 0 (0%), p = 0.029) and that NIHSS on admission was higher in patients with no pain at presentation (group B NIHSS = 3, IQR 8 vs. group A NIHSS = 2, IQR 5, group C NIHSS = 0, IQR 2, p = 0.041). There were no other differences between the three patient groups in the descriptive analysis. Logistic regression analysis for vessel status at follow-up did not show an association with pain on admission or at follow-up. In our cohort of patients with CAD, headache was a common initial clinical presentation, which rarely persisted for three months. Headache on admission or at follow-up did not predict persisting vessel pathology in patients with CAD.","PeriodicalId":242430,"journal":{"name":"Clinical and Translational Neuroscience","volume":"160 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126239163","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"ComPAIN—Communication of Pain in Patients with Headache","authors":"Emma Eicher, Sabina Räz, P. Stucki, Cinzia Röthlin, Miranda Stattmann, Bettina Grossenbacher, E. Neumann, Heiko Pohl, Yvonne Ilg, A. Maatz, S. Wegener","doi":"10.3390/ctn7020014","DOIUrl":"https://doi.org/10.3390/ctn7020014","url":null,"abstract":"Primary headaches are a common debilitating health condition. Proper diagnosis and treatment depend on patients’ communication. We wanted to explore differences in pain communication with a special interest in potential sex differences. Patients visiting our headache unit for the first time filled in two different questionnaires (one before entering the consultation and one directly after finishing the consultation), through which we captured patients’ descriptions of their pain, its potential impact on daily lives, the well-being of our patients and the satisfaction with our consultation. We included a total of 35 patients (22 female, 13 male). Women reported experiencing a greater loss of socially active days during the last 3 months because of headaches compared to men. Furthermore, women were more satisfied with our consultation. In addition, we revealed migraineurs characterize their pain differently than stated in the International Classification of Headache Disorders (ICHD-3) criteria. The adjective “pressing” (drückend) was used significantly more often by migraineurs compared to patients with tension-type headaches. Nevertheless, in the physicians’ written report, the characterization more often contained the ICHD-3 corresponding adjective “pulsating” (pulsierend). Since the typification of headaches and subsequent therapy depends predominantly on the patients’ communication, consideration of the individual pain description and further research on headache characterization are indispensable.","PeriodicalId":242430,"journal":{"name":"Clinical and Translational Neuroscience","volume":"127 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116408037","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Role of Neurorehabilitation in Post-COVID-19 Syndrome","authors":"L. Diem, O. Höfle, L. Fregolente, R. Hoepner","doi":"10.3390/ctn7020013","DOIUrl":"https://doi.org/10.3390/ctn7020013","url":null,"abstract":"Post-COVID-19 syndrome is an ongoing challenge for healthcare systems as well as for society. The clinical picture of post-COVID-19 syndrome is heterogeneous, including fatigue, sleep disturbances, pain, hair loss, and gastrointestinal symptoms such as chronic diarrhea. Neurological complaints such as fatigue, cognitive impairment, and sleep disturbances are common. Due to the short timeframe of experience and small amount of evidence in this field, the treatment of post-COVID-19 syndrome remains a challenge. Currently, therapeutic options for post-COVID-19 syndrome are limited to non-pharmaceutical interventions and the symptomatic therapy of respective symptoms. In this article, we summarize the current knowledge about therapeutic options for the treatment of neurological symptoms of post-COVID-19 syndrome.","PeriodicalId":242430,"journal":{"name":"Clinical and Translational Neuroscience","volume":"51 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115764282","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Perception of Quality of Life and Fatigue in Multiple Sclerosis Patients Treated with High-Dose Vitamin D","authors":"A. Ianniello, Andrea Sottosanti, G. Borriello, Massimo Vincenti","doi":"10.3390/ctn7020012","DOIUrl":"https://doi.org/10.3390/ctn7020012","url":null,"abstract":"Background: Multiple sclerosis (MS) is a chronic autoimmune disease of the central nervous system, with symptoms that greatly affect quality of life (QoL). One of the most prevalent symptoms of MS is fatigue, also one of the main factors reducing QoL. Low levels of vitamin D (VD) are associated with worse QoL and with increased risk of developing more severe forms of the disease. Methods: In this cross-sectional study, we compared perceptions of quality of life and fatigue in 324 patients, subdivided into four groups, according to their treatment: high-dose VD therapy only, disease-modifying therapy (DMT) only, both treatments, and no treatments. All subjects completed the MSQOL-54 and the FSS questionnaires via an online survey. Results: High-dose VD treatment was associated with an increased perception of physical QoL (83.60 vs. 66.92, p < 0.001), mental QoL (75.52 vs. 59.80, p < 0.001), and fatigue (1.89 vs. 2.98, p < 0.001), compared to the DMT-only group. Treatment with DMT was associated with a worse perception of physical QoL compared to no treatment (70.58 vs. 76.53, p = 0.024). Conclusions: high-dose VD treatment is well-tolerated and associated with an increased perception of QoL in people with MS.","PeriodicalId":242430,"journal":{"name":"Clinical and Translational Neuroscience","volume":"75 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128378023","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic and Epigenetic Study of Monozygotic Twins Affected by Parkinson’s Disease","authors":"Yi-Min Sun, Wan-Li Yang, E. Rogaeva, A. Lang, Jian Wang, Ming Zhang","doi":"10.3390/ctn7020011","DOIUrl":"https://doi.org/10.3390/ctn7020011","url":null,"abstract":"Background: Genetic and epigenetic modifiers of age at onset of Parkinson’s disease (PD) are largely unknown. It remains unclear whether DNA methylation (DNAm) age acceleration is linked to age at onset in PD patients of different ethnicities with a similar genetic background. We aim to characterize the clinical, genomic and epigenomic features of three pairs of Chinese monozygotic twins discordant for PD onset by up to 10 years. Methods: We conducted whole genome sequencing, multiplex ligation-dependent probe amplification and genome-wide DNAm array to evaluate the three pairs of Chinese monozygotic twins discordant for age at onset of PD (families A–C). Results: We identified two heterozygous PRKN mutations (exon 2–4 deletion and p.Met1Thr) in PD affected members of one family. Somatic mutation analyses of investigated families did not reveal any variants that could explain the phenotypic discordance in the twin pairs. Of note, our epigenetic study revealed that the twins with earlier-onset had a trend of faster DNAm age acceleration than the later-onset/asymptomatic twins, but without statistical significance. Conclusion: The link between DNAm age acceleration and PD onset in Chinese patients should be interpreted with cautious, and need to be further verified in an extended PD cohort with similar genetic background.","PeriodicalId":242430,"journal":{"name":"Clinical and Translational Neuroscience","volume":"25 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126534469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Saudi Consensus Recommendations on the Management of Multiple Sclerosis: Family Planning within the Management of MS","authors":"Mona M. Al-Khawajah, Rayan G. Al-Barakati, A. Al-jedai, Yaser M. Al-Malik, H. Al-Mudaiheem, Bedor A. Al-Omari, Ibtisam Al-Thubaiti, Rumaiza H. Al-Yafeai, R. Bunyan, E. Cupler, Mohammed A. Hakami, Hanaa Kedah, S. Makkawi, Leena H. Saeed, J. Saeedi, E. Shosha, M. Al-Jumah","doi":"10.3390/ctn7020010","DOIUrl":"https://doi.org/10.3390/ctn7020010","url":null,"abstract":"This review article addresses the complex issues faced by individuals with Multiple Sclerosis (MS) who are planning a family, becoming pregnant, or wishing to breastfeed their baby. Recommendations and guidelines were discussed and agreed upon by neurologists, neuroradiologists, nurses, and pharmacists involved in the management of MS in the Kingdom of Saudi Arabia (KSA). MS itself does not harm a pregnancy, and people with MS of childbearing age can be encouraged to enjoy family life. Family planning should be a part of the initial conversation with a newly diagnosed patient of childbearing age. Interferons and glatiramer acetate can be continued throughout pregnancy and can be administered during breastfeeding if the benefits outweigh the risks. These DMTs may be considered for a woman with well-controlled MS who is planning a pregnancy or otherwise not using contraception, according to an individualized risk-benefit analysis. The use of contraception should be maintained during the administration of other disease-modifying therapies (DMTs). Natalizumab can be administered at a reduced administration frequency to women with high MS disease activity up to 30 weeks gestation (this agent may induce hematological abnormalities in the fetus). Other DMTs should be withdrawn for variable periods before contraception is stopped and immediately after the discovery of a pregnancy (beware of rebound disease activity after withdrawing natalizumab or fingolimod). Resumption of treatment should not be delayed in women at risk of relapse during the postpartum period and especially in those who do not wish to breastfeed.","PeriodicalId":242430,"journal":{"name":"Clinical and Translational Neuroscience","volume":"48 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134310510","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Influence of Age on the Success of Neurorehabilitation","authors":"Nicolas Broc, A. Schnider","doi":"10.3390/ctn7010009","DOIUrl":"https://doi.org/10.3390/ctn7010009","url":null,"abstract":"There is a general understanding that older adults suffering from a stroke have poorer outcomes and might benefit less from neurorehabilitation. This narrative review analyzes the conflicting evidence for the effect of aging on the success of neurorehabilitation after a stroke. While there is convincing evidence that functional outcomes are negatively impacted by age, functional gains made during rehabilitation are less clearly impacted, and the effect of age seems to be related to other factors such as prestroke independence and therapy intensity, as well as the population studied. There is no evidence that would justify withholding high-intensity neurorehabilitation on the sole basis of age.","PeriodicalId":242430,"journal":{"name":"Clinical and Translational Neuroscience","volume":"1996 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125576416","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}