journal
https://read.qxmd.com/read/38613590/myotonic-dystrophy-type-1-in-south-korea-a-comprehensive-analysis-of-cancer-and-comorbidity-risks
#1
JOURNAL ARTICLE
Incheol Seo, Jin-Mo Park
BACKGROUND AND PURPOSE: Myotonic dystrophy type 1 (DM1) is an inherited neuromuscular disorder characterized by myotonia and progressive muscle weakness. Beyond the primary symptoms, there is growing concern regarding a higher incidence of certain comorbidities in DM1 patients, including cancer, diabetes, thyroid dysfunction, and cataracts. This study was designed to examine the occurrence of these conditions among patients diagnosed with DM1 in South Korea, using data from the National Health Insurance Service database...
April 13, 2024: Neurological Sciences
https://read.qxmd.com/read/38607534/cognitive-assessment-during-the-phases-of-a-spontaneous-migraine-a-prospective-cohort-study
#2
JOURNAL ARTICLE
Jason C Ray, David Darby, Helmut Butzkueven, Manjit S Matharu, Elspeth J Hutton
INTRODUCTION: Cognitive symptoms are reported commonly throughout all phases of a migraine; however, there is a paucity of objective cognitive profiling. Previous studies have been limited by practice effect, and variable populations. METHODS: Participants completed 1 month of daily testing with a computerised cognitive battery involving a simple reaction (SRT), choice reaction (CRT) and a working memory test (WM). Results were correlated with their diary to identify interictal scores, and scores during each phase of a migraine, and non-migraine headache days...
April 12, 2024: Neurological Sciences
https://read.qxmd.com/read/38607533/expanding-spg18-clinical-spectrum-autosomal-dominant-mutation-causes-complicated-hereditary-spastic-paraplegia-in-a-large-family
#3
JOURNAL ARTICLE
Assunta Trinchillo, Valeria Valente, Marcello Esposito, Miriana Migliaccio, Aniello Iovino, Michele Picciocchi, Nunzia Cuomo, Carmela Caccavale, Cristofaro Nocerino, Laura De Rosa, Elena Salvatore, Giovanna Maria Pierantoni, Valeria Menchise, Simona Paladino, Chiara Criscuolo
BACKGROUND: SPG18 is caused by mutations in the endoplasmic reticulum lipid raft associated 2 (ERLIN2) gene. Autosomal recessive (AR) mutations are usually associated with complicated hereditary spastic paraplegia (HSP), while autosomal dominant (AD) mutations use to cause pure SPG18. AIM: To define the variegate clinical spectrum of the SPG18 and to evaluate a dominant negative effect of erlin2 (encoded by ERLIN2) on oligomerization as causing differences between AR and AD phenotypes...
April 12, 2024: Neurological Sciences
https://read.qxmd.com/read/38602611/acute-ischemic-stroke-as-initial-manifestation-of-cardiac-amyloidosis
#4
LETTER
Abhishek Dixit
No abstract text is available yet for this article.
April 11, 2024: Neurological Sciences
https://read.qxmd.com/read/38600333/correction-to-brivaracetam-use-in-clinical-practice-a-delphi-consensus-on-its-role-as-first-add%C3%A2-on-therapy-in-focal-epilepsy-and-beyond
#5
Simona Lattanzi, Valentina Chiesa, Giancarlo Di Gennaro, Edoardo Ferlazzo, Angelo Labate, Angela La Neve, Stefano Meletti, Carlo Di Bonaventura
No abstract text is available yet for this article.
April 11, 2024: Neurological Sciences
https://read.qxmd.com/read/38600332/effects-of-different-modalities-of-transcranial-magnetic-stimulation-on-post-stroke-cognitive-impairment-a-network-meta-analysis
#6
JOURNAL ARTICLE
Yulin Yang, Wanpeng Chang, Jiangtao Ding, Hongli Xu, Xiao Wu, Lihong Ma, Yanwen Xu
OBJECTIVE: The study aimed to evaluate, using a network meta-analysis, the effects of different transcranial magnetic stimulation (TMS) modalities on improving cognitive function after stroke. METHODS: Computer searches of the Cochrane Library, PubMed, Web of Science, Embass, Google Scholar, CNKI, and Wanfang databases were conducted to collect randomized controlled clinical studies on the use of TMS to improve cognitive function in stroke patients, published from the time of database construction to November 2023...
April 11, 2024: Neurological Sciences
https://read.qxmd.com/read/38597980/serum-and-csf-cytokine-profiles-in-sars-cov-2-associated-polyradiculitis-depend-on-many-influencing-factors
#7
LETTER
Carla A Scorza, Fulvio A Scorza, Josef Finsterer
No abstract text is available yet for this article.
April 10, 2024: Neurological Sciences
https://read.qxmd.com/read/38594426/multiple-sclerosis-associated-with-adalimumab-use-in-ankylosing-spondylitis
#8
LETTER
Hongmei Tan, Lei Zhou, Chongbo Zhao, Chao Quan, Jingzi ZhangBao
No abstract text is available yet for this article.
April 10, 2024: Neurological Sciences
https://read.qxmd.com/read/38594425/earlier-age-of-symptom-onset-in-younger-generation-of-familial-cases-of-multiple-sclerosis
#9
JOURNAL ARTICLE
Aleksa Jovanovic, Tatjana Pekmezovic, Sarlota Mesaros, Ivana Novakovic, Borut Peterlin, Nikola Veselinovic, Olivera Tamas, Jovana Ivanovic, Gorica Maric, Marko Andabaka, Nikola Momcilovic, Jelena Drulovic
AIM: The aim of this study was to assess the prevalence of familial MS (fMS) in Belgrade MS population, discern the differences between the persons with fMS and sporadic MS, and to detect the presence of anticipation phenomenon in fMS patients. METHODS: The data on the demographic and clinical characteristics of MS patients was obtained from the Belgrade MS population Registry. In cases of vertical transmission of MS, the family members were divided into the younger and older generation, in order to assess the potential presence of anticipation phenomenon...
April 9, 2024: Neurological Sciences
https://read.qxmd.com/read/38589770/optimized-trans-cranial-direct-current-stimulation-for-prolonged-consciousness-disorder-in-a-patient-with-titanium-mesh-cranioplasty
#10
JOURNAL ARTICLE
Sun Im, Geun-Young Park, Tae-Woo Kim, Seong Hoon Lim
BACKGROUND: Transcranial direct current stimulation (tDCS) has been used for the restoration of awareness in patients with a minimal consciousness state (MCS). Most brains of patients in MCS may structurally and electrophysiologically differ from un-damaged brains. Moreover, tDCS is currently contraindicated for patients with craniotomy or skull with metallic implants. CASE PRESENTATION: We present a case with prolonged MCS over 1 year, who had severe brain damage, ventriculoperitoneal shunt, and cranioplasty with a titanium mesh, which was treated with tDCS which optimized with the simulation of the electric field based on the patient's brain MRI...
April 9, 2024: Neurological Sciences
https://read.qxmd.com/read/38589769/nusinersen-in-adults-with-type-3-spinal-muscular-atrophy-long-term-outcomes-on-motor-and-respiratory-function
#11
JOURNAL ARTICLE
Catarina Serrão, Sara Domingues, Catarina Falcão de Campos, Susana Moreira, Isabel Conceição, Mamede de Carvalho, Miguel Oliveira Santos
INTRODUCTION: Nusinersen was approved for 5q spinal muscular atrophy (SMA), irrespective of age, SMA type or functional status. Nonetheless, long-term data on adults with milder phenotypes are scarce. We aimed to characterize evolution on motor and respiratory function in our cohort of adults with type 3 SMA. METHODS: We conducted a longitudinal retrospective single-center study, including adults (≥18 years) with type 3 SMA under nusinersen for > 22 months...
April 8, 2024: Neurological Sciences
https://read.qxmd.com/read/38589768/utilization-of-eeg-microstates-as-a-prospective-biomarker-for-assessing-the-impact-of-ketogenic-diet-in-glut1-ds
#12
JOURNAL ARTICLE
Jianhua Chen, Liri Jin, Nan Lin
OBJECTIVE: The aim of the study is to analyze microstate patterns in GLUT1-DS, both before and after the ketogenic diet (KD). METHODS: We conducted microstate analysis of a patient with GLUT-1 DS and 27 healthy controls. A systematic literature review and meta-analysis was done. We compared the parameters of the patients with those of healthy controls and the incorporating findings in literature. RESULTS: The durations of the patient were notably shorter, and the occurrence rates were longer than those of healthy controls and incorporating findings from the review...
April 8, 2024: Neurological Sciences
https://read.qxmd.com/read/38587696/genetic-aspects-of-ataxias-in-a-cohort-of-turkish-patients
#13
JOURNAL ARTICLE
Basak Gogus, Muhsin Elmas, Ulku Turk Boru
INTRODUCTION: Ataxia is one of the clinical findings of the movement disorder disease group. Although there are many underlying etiological reasons, genetic etiology has an increasing significance thanks to the recently developing technology. The aim of this study is to present the variants detected in WES analysis excluding non-genetic causes, in patients with ataxia. METHODS: Thirty-six patients who were referred to us with findings of ataxia and diagnosed through WES or other molecular genetic analysis methods were included in our study...
April 8, 2024: Neurological Sciences
https://read.qxmd.com/read/38581610/efficacy-of-mechanical-thrombectomy-in-the-treatment-of-acute-ischemic-stroke-patients-with-double-aortic-arches
#14
LETTER
Yao Zhang, Youming Wang, Hao Li, Dongfang Guo, Xiaoli Yang
No abstract text is available yet for this article.
April 6, 2024: Neurological Sciences
https://read.qxmd.com/read/38580877/exploring-variability-in-cognitive-functioning-in-patients-with-spinal-muscular-atrophy-a-scoping-review
#15
REVIEW
Gabriele Giannotta, Marta Ruggiero, Marta De Rinaldis, Antonio Trabacca
The cognitive functioning of individuals with spinal muscular atrophy (SMA) is not well understood, prompting a call for more research to better grasp cognitive involvement in SMA. This study aims to explore recent findings regarding cognitive outcomes in SMA patients, including correlations between clinical features and cognitive abilities. The investigation seeks to identify commonly used measures for assessing cognitive function in this patient population. A scoping review following the Joanna Briggs Institute methodology examined literature until December 2023...
April 6, 2024: Neurological Sciences
https://read.qxmd.com/read/38578381/creutzfeldt-jakob-disease-in-a-man-surviving-covid-19-disentangling-a-casual-or-causal-association-by-neuropathology
#16
JOURNAL ARTICLE
Alessia Perna, Elisa Colaizzo, Anna Ladogana, Gabriella Silvestri, Simone Baiardi
BACKGROUND: Literature reporting the onset of Creutzfeldt-Jakob disease (CJD) immediately after COVID-19 infection has strengthened a possible causal link between infection and neurodegeneration. Here, we report a novel case undergoing detailed neuropathological assessment. CASE REPORT: Two months after he had contracted SARS-CoV-2 infection, a 54-year-old man manifested a subacute onset of ataxia, headache, anosmia, and hallucinations, followed by rapidly progressive cognitive decline...
April 5, 2024: Neurological Sciences
https://read.qxmd.com/read/38573433/correction-to-primary-vs-pre-emptive-anti-seizure-medication-prophylaxis-in-anti-cd19-car-t-cell-therapy
#17
Umberto Pensato, Federica Pondrelli, Chiara de Philippis, Gian Maria Asioli, Alessandra Crespi, Alessandro Buizza, Daniele Mannina, Beatrice Casadei, Enrico Maffini, Laura Straffi, Simona Marcheselli, Pier Luigi Zinzani, Francesca Bonifazi, Maria Guarino, Stefania Bramanti
No abstract text is available yet for this article.
April 4, 2024: Neurological Sciences
https://read.qxmd.com/read/38565747/the-efficacy-and-safety-of-lecanemab-10%C3%A2-mg-kg-biweekly-compared-to-a-placebo-in-patients-with-alzheimer-s-disease-a-systematic-review-and-meta-analysis-of-randomized-controlled-trials
#18
REVIEW
Karim Abdelazim, Ahmed A Allam, Badreldin Afifi, Hebatullah Abdulazeem, Ahmed I Elbehiry
Alzheimer's disease, prevalent in individuals aged 60 and above, constitutes most dementia cases and significantly impairs memory and cognitive functions. With global Alzheimer's cases projected to triple by 2050, there is a pressing need for effective interventions. Lecanemab, a monoclonal antibody targeting amyloid-beta plaques, shows promise in slowing Alzheimer's progression. Positive clinical trial results have instilled hope in patients, prompting ongoing research to advance understanding and intervention possibilities...
April 3, 2024: Neurological Sciences
https://read.qxmd.com/read/38565746/sex-hormones-and-neuromyelitis-optica-spectrum-disorder-a-bidirectional-mendelian-randomization-study
#19
JOURNAL ARTICLE
Yaxian Hu, Fei Zou, Wei Lu
BACKGROUND: Females are considered to have an increased susceptibility to neuromyelitis optica spectrum disorder (NMOSD) than males, especially aquaporin-4 (AQP4) antibody positive NMOSD, indicating that sex hormones may be involved in the NMOSD pathogenesis. However, the causality between sex hormones and NMOSD still remains unclear. METHODS: Based on the genome-wide association study (GWAS) data of three sex hormones (estradiol (E2), progesterone (PROG) and bioavailable testosterone (BAT)), sex hormone-binding globulin (SHBG), age of menarche, age of menopause, and NMOSD (total, AQP4 + and AQP4 -), we performed a two-sample bidirectional Mendelian randomization (MR) study...
April 2, 2024: Neurological Sciences
https://read.qxmd.com/read/38564060/the-transition-of-medication-overuse-status-by-acute-medication-categories-in-episodic-or-chronic-migraine-patients-to-non-overuse-status-after-receiving-anti-cgrp-monoclonal-antibodies-a-systematic-review-and-meta-analysis-of-phase-3-randomized-control-trial
#20
JOURNAL ARTICLE
Chananchida Sirilertmekasakul, Akkanat Panto, Pattanan Lekhalawan, Pariyada Panyarachun, Porpim Jindasakchai, Wanakorn Rattanawong
OBJECTIVE: The objective of this systematic review and meta-analysis was to determine whether patients with episodic (EM) or chronic migraine (CM), who were treated with anti-CGRP antibodies, showed a reversal from medication overuse (MO) or medication overuse headache (MOH) status at their baseline to non-overuse status. Furthermore, this study aimed to establish which acute headache medication (AHM) categories responded more effectively to anti-CGRP antibodies. METHODS: A systematic search was conducted in the PubMed database for relevant studies from January 2013 to September 2023...
April 2, 2024: Neurological Sciences
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