NeurologiaPub Date : 2024-03-01DOI: 10.1016/j.nrleng.2023.12.011
W.T. Zhang , G.X. Zhang , S.S. Gao
{"title":"The potential diagnostic accuracy of circulating microRNAs for Alzheimer's disease: A meta-analysis","authors":"W.T. Zhang , G.X. Zhang , S.S. Gao","doi":"10.1016/j.nrleng.2023.12.011","DOIUrl":"https://doi.org/10.1016/j.nrleng.2023.12.011","url":null,"abstract":"<div><h3>Background & objective</h3><p>Alzheimer's disease (AD) is a progressive and irreversible neurodegenerative disease that seriously affects cognitive ability and has become a key public health problem. Many studies have identified the possibility of peripheral blood microRNA as effective non-invasive biomarkers for AD diagnosis, but the results are inconsistent. Therefore, we carried out this meta-analysis to evaluate the diagnostic accuracy of circulating microRNAs in the diagnosis of AD patients.</p></div><div><h3>Methods</h3><p>We performed a systematic literature search of the following databases: PubMed, EMBASE, Web of Science, Cochrane Library, Wanfang database and China National Knowledge Infrastructure, updated to March 15, 2021. A random effects model was used to pool the sensitivity, specificity, positive likelihood ratio, negative likelihood ratio, diagnostic odds ratio and area under the curve. Meta-regression and subgroup analysis were performed to explore the sources of heterogeneity, and Deeks’ funnel plot was used to assess whether there was publication bias.</p></div><div><h3>Results</h3><p>62 studies from 18 articles were included in this meta-analysis. The pooled sensitivity was 0.82 (95% CI: 0.78–0.85), specificity was 0.80 (95% CI: 0.76–0.83), PLR was 4. 1 (95% CI: 3.4–4.9), NLR was 0.23 (95% CI: 0.19–0.28), DOR was 18 (95% CI: 13–25) and AUC was 0.88 (95% CI: 0.84–0.90). Subgroup analysis shows that the microRNA clusters of plasma type performed a better diagnostic accuracy of AD patients. In addition, publication bias was not found.</p></div><div><h3>Conclusions</h3><p>Circulating microRNAs can be used as a promising non-invasive biomarker in AD diagnosis.</p></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 2","pages":"Pages 147-159"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2173580823000792/pdfft?md5=43921deb7f655d4aa413c1b82556403d&pid=1-s2.0-S2173580823000792-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140051875","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}
NeurologiaPub Date : 2024-03-01DOI: 10.1016/j.nrleng.2024.01.004
F. Labella Álvarez , J.A. Fernández-Ramos , R. Camino León , E. Ibarra de la Rosa , E. López Laso
{"title":"Pseudotumor cerebri in the paediatric population: clinical features, treatment and prognosis","authors":"F. Labella Álvarez , J.A. Fernández-Ramos , R. Camino León , E. Ibarra de la Rosa , E. López Laso","doi":"10.1016/j.nrleng.2024.01.004","DOIUrl":"10.1016/j.nrleng.2024.01.004","url":null,"abstract":"<div><h3>Introduction</h3><p>Pseudotumor cerebri (PC) in prepubertal patients displays certain characteristics that differentiate it from its presentation at the postpubertal stage. The aim of this study is to describe the characteristics of paediatric patients diagnosed with PC at our centre and to compare them according to their pubertal status.</p></div><div><h3>Patients and methods</h3><p>We included patients aged between 1 and 18 years who were diagnosed with PC in a tertiary-level hospital between 2006 and 2019 and who met the updated diagnostic criteria for PC. They were classified according to body weight and pubertal status. Subsequently, we analysed results from lumbar punctures, neuroimaging studies, ophthalmological assessments, and treatments received during follow-up.</p></div><div><h3>Results</h3><p>We included 28 patients, of whom 22 were of prepubertal age and 6 were of postpubertal age. The mean age (standard deviation) was 9.04 (2.86) years. Among the postpubertal patients, 83.3% were boys, 66.7% of whom presented overweight/obesity. In the group of prepubertal patients, 27% were boys, 31.8% of whom were overweight. The most frequent symptoms were headache (89.9%) and blurred vision (42.9%). All patients presented papilloedema, and 21.4% manifested sixth nerve palsy. Possible triggers were identified in 28.6% of cases. Nineteen percent of patients presented clinical recurrence, all of whom were prepubertal patients. Complete clinical resolution was achieved in 55.6% of patients.</p></div><div><h3>Conclusion</h3><p>Prepubertal patients with PC show lower prevalence of obesity, higher prevalence of secondary aetiologies, and higher recurrence rates than postpubertal patients.</p></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 2","pages":"Pages 105-116"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2173580824000208/pdfft?md5=4b7de80ab31a98235fed122f33c4271c&pid=1-s2.0-S2173580824000208-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139565364","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}
NeurologiaPub Date : 2024-03-01DOI: 10.1016/j.nrleng.2024.02.008
R Sivera Mascaró, T García Sobrino, A Horga Hernández, A L Pelayo Negro, A Alonso Jiménez, A Antelo Pose, M D Calabria Gallego, C Casasnovas, C A Cemillán Fernández, J Esteban Pérez, M Fenollar Cortés, M Frasquet Carrera, M P Gallano Petit, A Giménez Muñoz, G Gutiérrez Gutiérrez, A Gutiérrez Martínez, R Juntas Morales, N L Ciano-Petersen, P L Martínez Ulloa, S Mederer Hengstl, E Millet Sancho, F J Navacerrada Barrero, F E Navarrete Faubel, J Pardo Fernández, S I Pascual Pascual, J Pérez Lucas, J Pino Mínguez, M Rabasa Pérez, M Sánchez González, J Sotoca, B Rodríguez Santiago, R Rojas García, J Turon-Sans, V Vicent Carsí, T Sevilla Mantecón
{"title":"Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease.","authors":"R Sivera Mascaró, T García Sobrino, A Horga Hernández, A L Pelayo Negro, A Alonso Jiménez, A Antelo Pose, M D Calabria Gallego, C Casasnovas, C A Cemillán Fernández, J Esteban Pérez, M Fenollar Cortés, M Frasquet Carrera, M P Gallano Petit, A Giménez Muñoz, G Gutiérrez Gutiérrez, A Gutiérrez Martínez, R Juntas Morales, N L Ciano-Petersen, P L Martínez Ulloa, S Mederer Hengstl, E Millet Sancho, F J Navacerrada Barrero, F E Navarrete Faubel, J Pardo Fernández, S I Pascual Pascual, J Pérez Lucas, J Pino Mínguez, M Rabasa Pérez, M Sánchez González, J Sotoca, B Rodríguez Santiago, R Rojas García, J Turon-Sans, V Vicent Carsí, T Sevilla Mantecón","doi":"10.1016/j.nrleng.2024.02.008","DOIUrl":"10.1016/j.nrleng.2024.02.008","url":null,"abstract":"<p><strong>Introduction: </strong>Charcot-Marie-Tooth disease (CMT) is classified according to neurophysiological and histological findings, the inheritance pattern, and the underlying genetic defect. The objective of these guidelines is to offer recommendations for the diagnosis, prognosis, follow-up, and treatment of this disease in Spain.</p><p><strong>Material and methods: </strong>These consensus guidelines were developed through collaboration by a multidisciplinary panel encompassing a broad group of experts on the subject, including neurologists, paediatric neurologists, geneticists, physiatrists, and orthopaedic surgeons.</p><p><strong>Recommendations: </strong>The diagnosis of CMT is clinical, with patients usually presenting a common or classical phenotype. Clinical assessment should be followed by an appropriate neurophysiological study; specific recommendations are established for the parameters that should be included. Genetic diagnosis should be approached sequentially; once PMP22 duplication has been ruled out, if appropriate, a next-generation sequencing study should be considered, taking into account the limitations of the available techniques. To date, no pharmacological disease-modifying treatment is available, but symptomatic management, guided by a multidiciplinary team, is important, as is proper rehabilitation and orthopaedic management. The latter should be initiated early to identify and improve the patient's functional deficits, and should include individualised exercise guidelines, orthotic adaptation, and assessment of conservative surgeries such as tendon transfer. The follow-up of patients with CMT is exclusively clinical, and ancillary testing is not necessary in routine clinical practice.</p>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140023879","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}
NeurologiaPub Date : 2024-02-20DOI: 10.1016/j.nrleng.2024.02.006
D A García Estévez, I Pinal Osorio, A Pato Pato
{"title":"Alemtuzumab and autoimmune polyglandular syndrome with type 1 diabetes mellitus.","authors":"D A García Estévez, I Pinal Osorio, A Pato Pato","doi":"10.1016/j.nrleng.2024.02.006","DOIUrl":"10.1016/j.nrleng.2024.02.006","url":null,"abstract":"","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139934935","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}
NeurologiaPub Date : 2024-02-20DOI: 10.1016/j.nrleng.2024.02.004
C Guijarro-Castro, L Estallo-Guijarro
{"title":"Opsoclonus-myoclonus syndrome and prostate cancer. An entity to be aware of.","authors":"C Guijarro-Castro, L Estallo-Guijarro","doi":"10.1016/j.nrleng.2024.02.004","DOIUrl":"10.1016/j.nrleng.2024.02.004","url":null,"abstract":"","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139934938","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}
NeurologiaPub Date : 2024-02-20DOI: 10.1016/j.nrleng.2024.02.001
J Martín Prieto, E García-Serrano Fuertes, J Iglesias Bermejillo, A Luna Rodríguez
{"title":"Mutations in the type IV collagen gen (COL4A1) as an unusual etiology of cerebrovascular disease in young adults.","authors":"J Martín Prieto, E García-Serrano Fuertes, J Iglesias Bermejillo, A Luna Rodríguez","doi":"10.1016/j.nrleng.2024.02.001","DOIUrl":"10.1016/j.nrleng.2024.02.001","url":null,"abstract":"","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139934937","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}
NeurologiaPub Date : 2024-02-01DOI: 10.1016/j.nrleng.2024.01.011
M. Furones García, J.J. García Peñas, E. González Alguacil, T. Moreno Cantero, M.L. Ruiz Falcó, V. Cantarín Extremera, V. Soto Insuga
{"title":"Sleep disorders in children with epilepsy","authors":"M. Furones García, J.J. García Peñas, E. González Alguacil, T. Moreno Cantero, M.L. Ruiz Falcó, V. Cantarín Extremera, V. Soto Insuga","doi":"10.1016/j.nrleng.2024.01.011","DOIUrl":"10.1016/j.nrleng.2024.01.011","url":null,"abstract":"<div><h3>Introduction</h3><p>Children with epilepsy present greater prevalence of sleep disorders than the general population. Their diagnosis is essential, since epilepsy and sleep disorders have a bidirectional relationship.</p></div><div><h3>Objective</h3><p>Determine the incidence of sleep disorders and poor sleep habits in children with epilepsy.</p></div><div><h3>Methods</h3><p>We conducted a cross-sectional study of patients under 18 years of age with epilepsy, assessing sleep disorders using the Spanish-language version of the Sleep Disturbance Scale for Children (SDSC), and sleep habits using an original questionnaire.</p></div><div><h3>Results</h3><p>The sample included 153 patients. Eighty-four percent of our sample presented some type of sleep alteration. The most frequent alterations were sleep-wake transition disorders (53%), sleep initiation and maintenance disorders (47.7%), and daytime sleepiness (44.4%). In 70% of cases, the patients’ parents reported that their child “slept well,” although sleep disorders were detected in up to 75.7% of these patients. Many patients had poor sleep habits, such as using electronic devices in bed (16.3%), requiring the presence of a family member to fall asleep (39%), or co-sleeping or sharing a room (23.5% and 30.5%, respectively). Those with generalised epilepsy, refractory epilepsy, nocturnal seizures, and intellectual disability were more likely to present sleep disorders. In contrast, poor sleep habits were frequent regardless of seizure characteristics.</p></div><div><h3>Conclusions</h3><p>Sleep disorders and poor sleep habits are common in children with epilepsy. Their treatment can lead to an improvement in the quality of life of the patient and his/her family, as well as an improvement in the prognosis of epilepsy.</p></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 3","pages":"Pages 219-225"},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2173580824000282/pdfft?md5=409885945c3981b75c43ed4b98751504&pid=1-s2.0-S2173580824000282-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139673992","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}
NeurologiaPub Date : 2024-01-13DOI: 10.1016/j.nrleng.2024.01.002
Y. Leira , J. Vivancos , P. Diz , Á. Martín , M. Carasol , A. Frank
{"title":"The association between periodontitis and cerebrovascular disease, and dementia. Scientific report of the working group of the Spanish Society of Periodontology and the Spanish Society of Neurology","authors":"Y. Leira , J. Vivancos , P. Diz , Á. Martín , M. Carasol , A. Frank","doi":"10.1016/j.nrleng.2024.01.002","DOIUrl":"10.1016/j.nrleng.2024.01.002","url":null,"abstract":"<div><h3>Objective</h3><p>This article reviews the scientific evidence on the relationship between periodontitis and neurological disease, and particularly cerebrovascular disease and dementia. We also issue a series of recommendations regarding the prevention and management of periodontitis and these neurological diseases at dental clinics and neurology units.</p></div><div><h3>Development</h3><p>In response to a series of questions proposed by the SEPA-SEN working group, a literature search was performed, with no restrictions on study design, to identify the most relevant articles on the association between periodontitis and cerebrovascular disease and dementia from the perspectives of epidemiology, treatment, and the biological mechanisms involved in these associations.</p></div><div><h3>Conclusions</h3><p>Periodontitis increases the risk of ischaemic stroke and Alzheimer dementia. Recurrent bacterial infections and increased low-grade systemic inflammation seem to be possible biological mechanisms underlying this association. Limited evidence suggests that various oral health interventions can reduce the future risk of cerebrovascular disease and dementia.</p></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 3","pages":"Pages 302-311"},"PeriodicalIF":0.0,"publicationDate":"2024-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S217358082400018X/pdfft?md5=4bc6a2a6a651232a50edb3134e37f6cb&pid=1-s2.0-S217358082400018X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139473131","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":"Sleep disorders in patients with multiple sclerosis in Spain","authors":"G.X. Zhang , W.T. Zhang , S.S. Gao , R.Z. Zhao , W.J. Yu , G. Izquierdo","doi":"10.1016/j.nrleng.2021.03.011","DOIUrl":"10.1016/j.nrleng.2021.03.011","url":null,"abstract":"<div><h3>Objective</h3><p>This study assesses the presence of sleep disturbances and their relationship with clinical and demographic variables in patients with MS, with a view to establishing correlations between the different variables and the frequency of sleep disturbances.</p></div><div><h3>Methods</h3><p>The Pittsburgh Sleep Quality Index (PSQI) was used to detect sleep disorders. We contacted patients treated at the MS unit and distributed a questionnaire (PSQI) to 221 patients, receiving 142 usable questionnaires between 8 and 30 September 2019.</p></div><div><h3>Results</h3><p>The prevalence of patients with sleep disturbances in our study was 74.7% (73.7% in women and 76.8% in men). Therefore, sleep disorders are pervasive in patients with MS, with 3 out of 4 patients experiencing them, a higher rate than that observed in the population without the disease. The frequency of sleep disorders gradually increased in line with age. In the 2 age groups analyzed, 44–54 years and 55–68 years, the proportion of moderate and severe sleep disorders was 42.8% and 53.9%, respectively. Moderate and severe sleep disturbances were observed in 27.5%, 44.7%, and 58.3% of patients with Expanded Disability Status Scale scores of 0–3, 3–6, and >6, respectively.</p></div><div><h3>Conclusion</h3><p>Our results indicate that sleep disorders are more common in patients with MS than in other populations. Patients with secondary progressive forms of MS more frequently present sleep disturbances, while patients with primary progressive forms report them less frequently. Age and degree of disability were positively correlated with the prevalence and severity of sleep disorders in MS patients.</p></div>","PeriodicalId":94155,"journal":{"name":"Neurologia","volume":"39 1","pages":"Pages 29-35"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2173580823000676/pdfft?md5=d8a44992ddcc91170150fc94066131d1&pid=1-s2.0-S2173580823000676-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139072468","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}