eNeurologicalSciPub Date : 2024-03-20DOI: 10.1016/j.ensci.2024.100498
Roberto Tedeschi
{"title":"“Transcranial direct current stimulation for chronic foot pain: A comprehensive review”","authors":"Roberto Tedeschi","doi":"10.1016/j.ensci.2024.100498","DOIUrl":"https://doi.org/10.1016/j.ensci.2024.100498","url":null,"abstract":"<div><h3>Background</h3><p>Chronic foot pain, including conditions such as plantar fasciitis, presents a significant challenge to patients and healthcare providers. Traditional treatments often offer limited relief, prompting exploration of alternative therapies. Transcranial direct current stimulation (tDCS) has emerged as a noninvasive brain stimulation technique with potential for alleviating chronic pain syndromes.</p></div><div><h3>Methods</h3><p>A review was conducted following the JBI methodology and adhering to PRISMA guidelines. Searches were performed in databases including MEDLINE, Cochrane Central, Scopus, and PEDro, supplemented by grey literature sources and expert consultations. Studies were included if they investigated tDCS as an intervention for chronic foot pain, assessed its efficacy, safety, or mechanisms of action, and were published in English.</p></div><div><h3>Results</h3><p>A total of three papers were included in the review. The findings indicate that tDCS holds promise for managing chronic foot pain, including plantar fasciitis. Main results suggest significant reductions in pain intensity and improvements in related outcomes following tDCS treatment.</p></div><div><h3>Conclusions</h3><p>This review underscores the potential of tDCS as an alternative therapy for severe lower-extremity pain, highlighting the need for further research to optimize its parameters and long-term effects. tDCS emerges as a promising neuromodulation approach for chronic foot pain management, offering insights for enhancing patient outcomes and quality of life.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"35 ","pages":"Article 100498"},"PeriodicalIF":0.0,"publicationDate":"2024-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650224000054/pdfft?md5=0a26cdebe6f237a2349933d26c5ad9bc&pid=1-s2.0-S2405650224000054-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140191060","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Phenotypic variability in a large kindred with spastic paraplegia associated with a novel REEP1 variant","authors":"Helgi Thor Hjartarson , Humberto Skott , Tobias Granberg , Martin Paucar","doi":"10.1016/j.ensci.2024.100497","DOIUrl":"https://doi.org/10.1016/j.ensci.2024.100497","url":null,"abstract":"<div><h3>Background and objectives</h3><p>The aim of this study is to provide a comprehensive characterization of a large Estonian family spanning five generations with seventeen individuals affected by spastic paraplegia associated with a novel variant in the receptor expression-enhancing protein-1 (<em>REEP1</em>) gene.</p></div><div><h3>Methods</h3><p>Comprehensive clinical evaluation, neuroimaging, and neurophysiological studies were performed on six patients who provided oral and written consent. Whole-exome sequencing was performed on the index case. Targeted carrier testing was done in all other available affected and at-risk relatives.</p></div><div><h3>Results</h3><p>Four individuals presented with pure spastic paraplegia, with onset from early childhood to adult age. None had bladder or bowel dysfunction. Two subjectively asymptomatic mutation carriers displayed pyramidal signs on examination. Imaging of the neuroaxis was normal in three patients, three had MRI findings interpreted as unrelated. Motor evoked potential (MEP) was abnormal in five; the patient with the longest disease duration had additional somatosensory evoked potential (SSEP) abnormalities. The novel splice-site variant, c.32 + 1G > C in the <em>REEP1</em> gene, found in the index case, co-segregates with disease in the family. Expressivity in this family is variable.</p></div><div><h3>Conclusion</h3><p>Our findings are in keeping with previous descriptions of the SPG31 spectrum. The phenotype associated with splice variants is not necessarily more severe than other conventional <em>REEP1</em> variants. As for other forms of familial spastic paraplegias, the factors modulating variable expressivity in SPG31 are still unknown.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"35 ","pages":"Article 100497"},"PeriodicalIF":0.0,"publicationDate":"2024-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650224000042/pdfft?md5=21544f22e474bf3b01accab040c0134b&pid=1-s2.0-S2405650224000042-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140138095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
eNeurologicalSciPub Date : 2024-01-28DOI: 10.1016/j.ensci.2024.100495
Dante J. Bellai, Mark G. Rae
{"title":"A systematic review of the association between the age of onset of spinal bulbar muscular atrophy (Kennedy's disease) and the length of CAG repeats in the androgen receptor gene","authors":"Dante J. Bellai, Mark G. Rae","doi":"10.1016/j.ensci.2024.100495","DOIUrl":"https://doi.org/10.1016/j.ensci.2024.100495","url":null,"abstract":"<div><h3>Introduction</h3><p>Spinal bulbar muscular atrophy (SBMA) is an X-linked recessive motor neuron disorder caused by the presence of ≥38 CAG repeats in the androgen receptor gene. Existing literature indicates a relationship between CAG repeat number and the onset age of some motor symptoms of SBMA. This review explores the effect of larger <em>versus</em> shorter CAG repeats on the age of weakness onset in male SBMA patients.</p></div><div><h3>Methods</h3><p>Three databases (October 2021; MEDLINE, SCOPUS, and Web of Science), Cambridge University Press, and Annals of Neurology were searched. 514 articles were initially identified, of which 13 were included for qualitative synthesis.</p></div><div><h3>Results</h3><p>Eleven of the thirteen articles identified a statistically significant inverse correlation between CAG repeat length and age of weakness onset in SBMA. Five studies indicated that SBMA patients with between 35 and 37 CAG repeats had an older age of weakness onset than patients with over 40 CAG repeats. The minimum number of CAG repeats associated with weakness was in the mid-to-late thirties.</p></div><div><h3>Conclusion</h3><p>Identification of a relationship between CAG repeat number and age of weakness may enable earlier detection and intervention for SBMA. In the future, studies should use interviews, chart reviews, and standardized scoring methods to reduce effects of retrospective bias.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"34 ","pages":"Article 100495"},"PeriodicalIF":0.0,"publicationDate":"2024-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650224000029/pdfft?md5=1bd8fd97e0f75f0ca6dfa3ec424a4b0b&pid=1-s2.0-S2405650224000029-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139653350","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
eNeurologicalSciPub Date : 2024-01-09DOI: 10.1016/j.ensci.2024.100494
Rajesh Verma, Rajarshi Chakraborty
{"title":"Behr's syndrome mimicking a case of hereditary spastic paraparesis","authors":"Rajesh Verma, Rajarshi Chakraborty","doi":"10.1016/j.ensci.2024.100494","DOIUrl":"https://doi.org/10.1016/j.ensci.2024.100494","url":null,"abstract":"","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"34 ","pages":"Article 100494"},"PeriodicalIF":0.0,"publicationDate":"2024-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650224000017/pdfft?md5=ba812dcf7ebf19ca388af5c7c5e5079f&pid=1-s2.0-S2405650224000017-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139433598","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Effect of istradefylline on postural abnormalities in patients with Parkinson's disease: An association study of baseline postural angle measurements with changes in Unified Dystonia Rating Scale total score","authors":"Makio Takahashi , Toshio Shimokawa , Jinsoo Koh , Takao Takeshima , Hirofumi Yamashita , Yoshinori Kajimoto , Hidefumi Ito","doi":"10.1016/j.ensci.2023.100493","DOIUrl":"https://doi.org/10.1016/j.ensci.2023.100493","url":null,"abstract":"<div><p>In our previous study, istradefylline treatment in patients with Parkinson's disease (PD) improved postural abnormalities (PAs), as seen from a decrease in the mean Unified Dystonia Rating Scale (UDRS) total score from week 0 to week 24. A subgroup analysis based on baseline clinical characteristics investigated the association between improvement in the UDRS total score and istradefylline treatment. However, the association between an objective assessment of PAs and improvement in the UDRS total score is unclear. This ad hoc analysis investigated the association between improvement in the UDRS total score after istradefylline treatment and baseline trunk and neck angles, objective assessments of PAs, measured from patients' photographs taken in the previous study. The patients (<em>n</em> = 31) were stratified into groups based on the trunk forward flexion angle (TFFA), trunk lateral flexion angle (TLFA), and neck flexion angle (NFA) values at baseline. From week 0 to week 24, significant improvements in the UDRS total score were found in median percent change (−8.33% [interquartile range: −43.97, 0.00], <em>P</em> = 0.039) in patients with equal to or above the median TFFA values, and in median change (−1.50 [−9.25, 0.00], <em>P</em> = 0.015) and median percent change (−13.33% [−50.47, 0.00], <em>P</em> = 0.009) in patients with equal to or above the median TLFA values. Patients with more advanced PAs showed more consistent improvements in the UDRS total score with istradefylline. Baseline TFFA and TLFA values, which are objective values, may be useful to assess the istradefylline effectiveness in patients with PD and PAs.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"34 ","pages":"Article 100493"},"PeriodicalIF":0.0,"publicationDate":"2023-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650223000515/pdfft?md5=b36a230611fde99de939b0c93580ceb0&pid=1-s2.0-S2405650223000515-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139100500","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
eNeurologicalSciPub Date : 2023-12-22DOI: 10.1016/j.ensci.2023.100491
Siobhan Mc Lernon , Daniel Frings , Louise Terry , Rob Simister , Simone Browning , Helen Burgess , Josenile Chua , Ugan Reddy , David J. Werring
{"title":"Doctors and nurses subjective predictions of 6-month outcome compared to actual 6-month outcome for adult patients with spontaneous intracerebral haemorrhage (ICH) in neurocritical care: An observational study","authors":"Siobhan Mc Lernon , Daniel Frings , Louise Terry , Rob Simister , Simone Browning , Helen Burgess , Josenile Chua , Ugan Reddy , David J. Werring","doi":"10.1016/j.ensci.2023.100491","DOIUrl":"10.1016/j.ensci.2023.100491","url":null,"abstract":"<div><h3>Background</h3><p>Acute spontaneous intracerebral haemorrhage is a devastating form of stroke. Prognostication after ICH may be influenced by clinicians' subjective opinions.</p></div><div><h3>Purpose</h3><p>To evaluate subjective predictions of 6-month outcome by clinicians' for ICH patients in a neurocritical care using the modified Rankin Scale (mRS) and compare these to actual 6-month outcome.</p></div><div><h3>Method</h3><p>We included clinicians' predictions of 6-month outcome in the first 48 h for 52 adults with ICH and compared to actual 6-month outcome using descriptive statistics and multilevel binomial logistic regression.</p></div><div><h3>Results</h3><p>35/52 patients (66%) had a poor 6-month outcome (mRS 4–6); 19/52 (36%) had died. 324 predictions were included. For good (mRS 0–3) versus poor (mRS 4–6), outcome, accuracy of predictions was 68% and exact agreement 29%. mRS 6 and mRS 4 received the most correct predictions. Comparing job roles, predictions of death were underestimated, by doctors (12%) and nurses (13%) compared with actual mortality (36%). Predictions of vital status showed no significant difference between doctors and nurses: OR = 1.24 {CI; 0.50–3.05}; (<em>p</em> = 0.64) or good versus poor outcome: OR = 1.65 {CI; 0.98–2.79}; (<em>p</em> = 0.06). When predicted and actual 6-month outcome were compared, job role did not significantly relate to correct predictions of good versus poor outcome: OR = 1.13 {CI;0.67–1.90}; (<em>p</em> = 0.65) or for vital status: OR = 1.11 {CI; 0.47–2.61}; <em>p</em> = 0.81).</p></div><div><h3>Conclusions</h3><p>Early prognostication is challenging. Doctors and nurses were most likely to correctly predict poor outcome but tended to err on the side of optimism for mortality, suggesting an absence of clinical nihilism in relation to ICH.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"34 ","pages":"Article 100491"},"PeriodicalIF":0.0,"publicationDate":"2023-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650223000497/pdfft?md5=668697b9042be93d195d306ff07d3c19&pid=1-s2.0-S2405650223000497-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139014361","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
eNeurologicalSciPub Date : 2023-12-03DOI: 10.1016/j.ensci.2023.100489
Nour Yaktine , Souha Fares , Samia J. Khoury , Hala Darwish
{"title":"Psychometric validation of the Arabic multiple sclerosis resiliency scale: Uncovering resilience factors in Lebanese MS patients for clinical and research advancements","authors":"Nour Yaktine , Souha Fares , Samia J. Khoury , Hala Darwish","doi":"10.1016/j.ensci.2023.100489","DOIUrl":"https://doi.org/10.1016/j.ensci.2023.100489","url":null,"abstract":"<div><h3>Background</h3><p>Multiple sclerosis (MS) is an autoimmune demyelinating disease that involves the central nervous system (CNS). Individuals with Multiple Sclerosis (MS) may experience difficulty adapting to their diagnosis as the unpredictable nature of the disease can be challenging to cope with.</p></div><div><h3>Methods</h3><p>The purpose of this study is twofold. First, we have culturally adapted and analyzed the Arabic version of the Multiple Sclerosis Resiliency Scale (MSRS) psychometric properties. Second, we aimed to explore resilience in a sample of Lebanese patients with MS in the face of the chronic disease and financial hardship that Lebanon is going through to evaluate their strengths and struggles. The sample consisted of 306 participants aged between 18 and 79 diagnosed with MS for at least one year.</p></div><div><h3>Results</h3><p>After examining criterion validity, construct validity, internal consistency, and test-retest reliability, the Arabic version of the MSRS exhibited good psychometric properties. The study also revealed that resilience increases with age and lower disability scores. Additionally, individuals with higher resilience levels displayed lower levels of depression. The research revealed that MS patients have high resilience, mainly relying on cognitive and emotional strategies, social support from family and friends, MS peer support, and spirituality.</p></div><div><h3>Conclusion</h3><p>These findings highlight the importance of emotional coping strategies and social support in building resilience among MS patients.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"34 ","pages":"Article 100489"},"PeriodicalIF":0.0,"publicationDate":"2023-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650223000473/pdfft?md5=3cbe6ef7b2b0691605006801e3243c0d&pid=1-s2.0-S2405650223000473-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138557307","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
eNeurologicalSciPub Date : 2023-11-28DOI: 10.1016/j.ensci.2023.100488
Marine Isakadze , Benjamin Zwain , Alan J. Velander , Jesus Lovera
{"title":"Cytomegalovirus and varicella zoster virus coinfection-associated central hypoventilation syndrome (Ondine's Curse)","authors":"Marine Isakadze , Benjamin Zwain , Alan J. Velander , Jesus Lovera","doi":"10.1016/j.ensci.2023.100488","DOIUrl":"https://doi.org/10.1016/j.ensci.2023.100488","url":null,"abstract":"<div><p>Central hypoventilation syndrome (CHS) is a rare condition resulting from damage to the respiratory centers in the central nervous system (CNS). It can be congenital or acquired and can cause hypoventilation, inadequate gas exchange, and respiratory failure, often during sleep but sometimes even while awake. CHS can lead to respiratory failure and life-threatening complications if not identified promptly. In this report, we present a rare case of a patient with human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS), who developed CHS likely due to an opportunistic infection by cytomegalovirus (CMV) and varicella zoster virus (VZV), manifesting as a lesion in the medullary respiratory nuclei. After treatment with ganciclovir, the patient showed clinical improvement, and his medullary lesion resolved.</p></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"34 ","pages":"Article 100488"},"PeriodicalIF":0.0,"publicationDate":"2023-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2405650223000461/pdfft?md5=f7cd12bec41eb0be25d911e20c97797f&pid=1-s2.0-S2405650223000461-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138467987","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}