{"title":"The prevalence of neuropsychiatric symptoms and correlation with MRI findings in CADASIL patients.","authors":"Li Bai, HaoTian Yan, Yu Guo, Yong Shan, Qing Peng, Haiqiang Jin, Yunchuang Sun, Fan Li, Wei Sun, Wei Zhang, Zihao Zhang, Zhaoxia Wang, Yun Yuan, Chen Ling","doi":"10.1002/acn3.52214","DOIUrl":"10.1002/acn3.52214","url":null,"abstract":"<p><strong>Objective: </strong>To assess the prevalence, timing, and functional impact of neuropsychiatric symptoms in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and to assess whether these neuropsychiatric symptoms are associated with magnetic resonance imaging (MRI) features of the patients.</p><p><strong>Methods: </strong>Our study included a total of 78 patients with CADASIL. To assess neuropsychiatric symptoms, we evaluated the caregivers using the Neuropsychiatric Inventory (NPI). Patients were considered to have an irritability, depression, apathy, aggression, or anxiety disorder if they scored ≥1 in the NPI. Subsequently, we conducted a more detailed assessment of irritability, depression, apathy, aggression, and anxiety. Multivariate logistic regression was employed to analyze the relationships between neuropsychiatric symptoms and clinical/MRI features in the patients.</p><p><strong>Results: </strong>Overall, 57.69% of patients with CADASIL experienced neuropsychiatric symptoms. Among these symptoms, irritability was the most prevalent (52.56%), followed by depression (19.23%), apathy (17.95%), aggression (7.69%), and anxiety (6.41%). The mean age of onset for irritability was the youngest, followed by anxiety, apathy, aggression, and depression. Among patients with both stroke/TIA and neuropsychiatric symptoms, 31.03% reported experiencing neuropsychiatric symptoms prior to stroke/TIA. Furthermore, both irritability and apathy had a negative impact on the patients' daily functioning. Additionally, there was a correlation between the presence of neuropsychiatric symptoms and the patients' MRI lesion burden.</p><p><strong>Interpretation: </strong>Our study has discovered that neuropsychiatric symptoms are highly prevalent in patients with CADASIL and may occur before cerebrovascular events, suggesting that neuropsychiatric symptoms of CADASIL deserve more attention and earlier exploration.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":"3010-3018"},"PeriodicalIF":4.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52214","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142337700","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yoji Hoshina, Justin R Abbatemarco, Stefanie J Rodenbeck, Jason T Poon, Suzanne C Liu, M Mateo Paz Soldan, John E Greenlee, John W Rose, Lisa K Peterson, Lisa Johnson, Alen Delic, Tammy L Smith, Stacey L Clardy
{"title":"Matched oligoclonal bands: Diagnostic utility and clinical characteristics.","authors":"Yoji Hoshina, Justin R Abbatemarco, Stefanie J Rodenbeck, Jason T Poon, Suzanne C Liu, M Mateo Paz Soldan, John E Greenlee, John W Rose, Lisa K Peterson, Lisa Johnson, Alen Delic, Tammy L Smith, Stacey L Clardy","doi":"10.1002/acn3.52162","DOIUrl":"10.1002/acn3.52162","url":null,"abstract":"<p><strong>Objective: </strong>To describe patient clinical characteristics associated with matched oligoclonal bands (OCB).</p><p><strong>Methods: </strong>A retrospective review at the University of Utah examined patients with matched OCB from 2015 to 2020. Clinical data, diagnosis, and outcomes were collected. Patients were classified with either multiple sclerosis (MS), other inflammatory neurologic disorder (other-IND), or noninflammatory neurologic disorder (NIND).</p><p><strong>Results: </strong>Of 539 identified patients, 436 (53.4% female) were matched-only, while 103 (43.7% female) were matched + unique. Patients with matched-only bands were older (57.4 ± 16 vs. 52 ± 14.2, p < 0.001) and more likely to have a history of autoimmune disease (40.1% vs. 28.2%, p = 0.024) and/or cancer (28.7% vs. 16.5%, p = 0.012). Patients with matched + unique bands were more likely to have CSF pleocytosis (52.4% vs. 25.9%, p < 0.001), high IgG index (52.2% vs. 7.6%, p < 0.001), and an abnormal MRI (86.9% vs. 63.1%, p < 0.001). More than two-thirds of matched-only patients had NIND, while 33% and 41.7% of matched + unique patients had MS and other-IND, respectively. Patients exhibiting matched-only bands and a high IgG index demonstrated a significantly higher incidence of other-IND compared to those with matched-only bands and a normal IgG index (55.6% vs. 30.4%, p = 0.013). While Kaplan-Meier survival curves demonstrated higher mortality in the matched-only cohort compared to the matched + unique cohort (p = 0.02), multivariable Cox regression analysis showed this difference was not statistically significant when adjusting for various factors. A history of cancer was the significant predictor of increased mortality risk (Hazard ratio = 3.147, 95% CI [2.196, 4.51]).</p><p><strong>Interpretation: </strong>Patients with matched only versus matched + unique OCB have distinct clinical profiles.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":"2846-2854"},"PeriodicalIF":4.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52162","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142453940","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Corey J Bolton, Omair A Khan, Dandan Liu, Sydney Wilhoite, Logan Dumitrescu, Amalia Peterson, Kaj Blennow, Henrik Zetterberg, Timothy J Hohman, Angela L Jefferson, Katherine A Gifford
{"title":"Cognitive status and demographics modify the association between subjective cognition and amyloid.","authors":"Corey J Bolton, Omair A Khan, Dandan Liu, Sydney Wilhoite, Logan Dumitrescu, Amalia Peterson, Kaj Blennow, Henrik Zetterberg, Timothy J Hohman, Angela L Jefferson, Katherine A Gifford","doi":"10.1002/acn3.52209","DOIUrl":"10.1002/acn3.52209","url":null,"abstract":"<p><strong>Objective: </strong>This study examined the effect of cognitive status, education, and sex on the association between subjective cognitive decline (SCD) and Alzheimer's disease (AD) biomarkers in non-demented older adults.</p><p><strong>Methods: </strong>Vanderbilt Memory and Aging Project participants (n = 129), dementia or stroke free, completed fasting lumbar puncture, SCD assessment, and cognitive assessment. Cerebrospinal fluid (CSF) biomarkers for AD were analyzed. Linear regression models related SCD to CSF AD biomarkers and follow-up models assessed interactions of SCD × cognitive status, sex, reading level, and education on AD biomarkers.</p><p><strong>Results: </strong>In main effect models, higher SCD was associated with more amyloidosis (p-values <0.004). SCD was not associated with tau, p-tau, or neurofilament light (NFL) levels (p-values >0.38). SCD score interacted with cognitive status (p < 0.02), sex (p = 0.03), and education (p-values <0.005) on amyloidosis. In stratified models, higher SCD was associated with more amyloid in cognitively unimpaired (p-values <0.003), men (p = 0.0003), and higher education. No SCD score × reading-level interaction was found (p-values >0.51) though SCD related to amyloid markers in the higher reading-level group (p-values <0.004).</p><p><strong>Interpretation: </strong>Higher SCD was associated with greater cerebral amyloid accumulation, one of the earliest pathological AD changes. SCD appears most useful in detecting early AD-related brain changes prior to objective cognitive impairment, in men, and those with higher quantity and quality of education and highlight the importance of considering these factors.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":"2977-2986"},"PeriodicalIF":4.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52209","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142491389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Larysa Benistant, Damien Reita, Maleka Schenck, Vincent Castelain, Hélène Cebula, Benoît Lhermitte, Laura Bender
{"title":"Fulminant leptomeningeal disease diagnosed as comutant H3F3A and FGFR diffuse midline glioma.","authors":"Larysa Benistant, Damien Reita, Maleka Schenck, Vincent Castelain, Hélène Cebula, Benoît Lhermitte, Laura Bender","doi":"10.1002/acn3.52180","DOIUrl":"10.1002/acn3.52180","url":null,"abstract":"<p><p>Diffuse midline gliomas present a particularly intricate and challenging clinical scenario. This rare case involves a patient with comutant H3F3A and FGFR diffuse midline glioma with a clinical presentation of fulminant leptomeningitis. A 22-year-old male presented with fatal and fulminant diffuse leptomeningitis. Next-generation sequencing of plasma and cerebrospinal circulating tumour DNA revealed diffuse midline gliomas with H3F3A and FGFR mutations. Methylome analysis of meningeal tissue collected during autopsy confirmed the diagnosis. Liquid biopsy plays a crucial role in the diagnosis of diffuse midline gliomas, mainly those with exclusively leptomeningeal presentations.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":"3037-3041"},"PeriodicalIF":4.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52180","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142491390","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Robert Stowell-Campos, Erin Lawrence, Elisabeth Breese Marsh, Dawn Merbach
{"title":"Scrambler therapy for treatment of poststroke pain.","authors":"Robert Stowell-Campos, Erin Lawrence, Elisabeth Breese Marsh, Dawn Merbach","doi":"10.1002/acn3.52201","DOIUrl":"10.1002/acn3.52201","url":null,"abstract":"<p><strong>Objective: </strong>Strokes involving sensory pathways can result in contralesional pain syndromes often refractory to pharmacologic interventions. Scrambler therapy (ST) is a noninvasive electroanalgesia device used to treat pain caused by peripheral neuropathy; however, data are scarce regarding its use in conditions secondary to central nervous system pathology. We evaluate the efficacy of ST to treat poststroke pain.</p><p><strong>Methods: </strong>Twenty patients with a history of prior stroke resulting in contralesional pain were randomized to receive ST or Sham as an adjunct to their stable medication regimen. Participants underwent 5 consecutive daily 40-min sessions. The study was blinded to patient and assessor. Pain scores (0-10) were recorded at baseline, pre- and postsession, and 4 weeks after final treatment. Student's t-tests compared differences in the mean change in pain score between groups immediately post-treatment #5, and at 4-weeks. The chi-squared analysis compared the proportion of patients in each group with >50% pain reduction.</p><p><strong>Results: </strong>Participants randomized to ST had a mean change in pain score of -3.73 (SD 2.85) postintervention and -2.57 (SD 2.07) at 4 weeks, while the Sham group had a mean change in score of -0.94 (SD 1.36) and -0.25 (SD 0.84) (p between groups = 0.012, 0.004, respectively). Significantly more participants treated with ST reported a >50% reduction in pain immediately postintervention compared to Sham (70% vs. 10%, p = 0.006), but not at follow-up (30% vs. 10%, p = ns).</p><p><strong>Interpretation: </strong>ST may effectively decrease poststroke pain compared to Sham. Larger studies are needed to evaluate confounders such as stroke location, time from stroke, and concomitant treatment with medications.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":"2904-2911"},"PeriodicalIF":4.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52201","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142277497","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Temporopolar blurring signifies abnormalities of white matter in mesial temporal lobe epilepsy.","authors":"Yuming Li, Peiwen Liu, Qiuxing Lin, Wei Li, Yingying Zhang, Jinmei Li, Xiuli Li, Qiyong Gong, Heng Zhang, Luying Li, Xiutian Sima, Danyang Cao, Xiang Huang, Kailing Huang, Dong Zhou, Dongmei An","doi":"10.1002/acn3.52204","DOIUrl":"10.1002/acn3.52204","url":null,"abstract":"<p><strong>Objective: </strong>The single-center retrospective cohort study investigated underlying pathogenic mechanisms and clinical significance of patients with temporal lobe epilepsy and hippocampal sclerosis (TLE-HS), in the presence/absence of gray-white matter abnormalities (usually called \"blurring\"; GMB) in ipsilateral temporopolar region (TPR) on MRI.</p><p><strong>Methods: </strong>The study involved 105 patients with unilateral TLE-HS (60 GMB+ and 45 GMB-) who underwent standard anterior temporal lobectomy, along with 61 healthy controls. Resected specimens were examined under light microscope. With combined T1-weighted and DTI data, we quantitatively compared large-scale morphometric features and exacted diffusion parameters of ipsilateral TPR-related superficial and deep white matter (WM) by atlas-based segmentation. Along-tract analysis was added to detect heterogeneous microstructural alterations at various points along deep WM tracts, which were categorized into inferior longitudinal fasciculus (ILF), uncinate fasciculus (UF), and temporal cingulum.</p><p><strong>Results: </strong>Comparable seizure semiology and postoperative seizure outcome were found, while the GMB+ group had significantly higher rate of HS Type 1 and history of febrile seizures, contrasting with significantly lower proportion of interictal contralateral epileptiform discharges, HS Type 2, and increased wasteosomes in hippocampal specimens. Similar morphometric features but greater WM atrophy with more diffusion abnormalities of superficial WM was observed adjacent to ipsilateral TPR in the GMB+ group. Moreover, microstructural alterations resulting from temporopolar GMB were more localized in temporal cingulum while evenly and widely distributed along ILF and UF.</p><p><strong>Interpretation: </strong>Temporopolar GMB could signify more severe and widespread microstructural damage of white matter rather than a focal cortical lesion in TLE-HS, affecting selection of surgical procedures.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":"2932-2945"},"PeriodicalIF":4.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52204","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142337699","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Rezan Ashayeri Ahmadabad, Kim H Tran, Yiran Zhang, Mahesh P Kate, Sachin Mishra, Brian H Buck, Khurshid A Khan, Jeremy Rempel, Gregory W Albers, Ashfaq Shuaib
{"title":"Utility of automated CT perfusion software in acute ischemic stroke with large and medium vessel occlusion.","authors":"Rezan Ashayeri Ahmadabad, Kim H Tran, Yiran Zhang, Mahesh P Kate, Sachin Mishra, Brian H Buck, Khurshid A Khan, Jeremy Rempel, Gregory W Albers, Ashfaq Shuaib","doi":"10.1002/acn3.52207","DOIUrl":"10.1002/acn3.52207","url":null,"abstract":"<p><strong>Background: </strong>Early diagnosis of large vessel occlusion (LVO) in acute stroke often requires CT angiography (CTA). Automated CT perfusion (CTP) software, which identifies blood flow abnormalities, enhances LVO diagnosis and patient selection for endovascular thrombectomy (EVT). This study evaluates the sensitivity of automated CTP images in detecting perfusion abnormalities in patients with acute ischemic stroke (AIS) and LVO or medium vessel occlusion (MeVO), compared to CTA.</p><p><strong>Methods: </strong>We screened acute ischemic stroke patients presenting within 24 h who underwent CT, CTA, and CTP as per institutional protocol. RAPID AI software processed CTP images, while neuroradiologists reviewed CTA for intracranial arterial occlusions. Sensitivity, specificity, and accuracy of automated CTP maps in detecting occlusions were assessed.</p><p><strong>Results: </strong>Of 790 screened patients, 31 were excluded due to lack of RAPID CTP data or poor-quality scans, leaving 759 for analysis. The median age was 71 years (IQR: 61-81), with 47% female. Among them, 678 had AIS, and 81 had AIS ruled out. CTA identified arterial occlusion in 562 patients (74%), with corresponding CTP abnormalities in 537 patients (Tmax > 6 sec). In the 197 without occlusion, CTP was negative in 161. Automated CTP maps had a sensitivity of 95.55% (CI 95: 93.50-97.10%), specificity of 81.73% (CI 95: 75.61-86.86%), negative predictive value of 98.22% (CI 95: 97.39-98.79%), positive predictive value of 63.54% (CI 95: 56.46-70.09%), and overall accuracy of 85.18% (CI 95: 82.45-87.64%).</p><p><strong>Conclusions: </strong>Automated CTP maps demonstrated high sensitivity and negative predictive value for LVOs and MeVOs, suggesting their usefulness as a rapid diagnostic tool, especially in settings without expert neuroradiologists.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":"2967-2976"},"PeriodicalIF":4.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52207","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142386585","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ahmad A Toubasi, Jarrod J Eisma, Jiacheng Wang, Habeeb F Kazimuddin, Bryan Hernandez, Taegan Vinarsky, Caroline Gheen, Zachary Rohm, Carynn Koch, Margareta A Clarke, Rachael Cheek, John Kramer, James Eaton, Manus J Donahue, Francesca Bagnato
{"title":"Chronic active lesions preferentially localize in watershed territories in multiple sclerosis.","authors":"Ahmad A Toubasi, Jarrod J Eisma, Jiacheng Wang, Habeeb F Kazimuddin, Bryan Hernandez, Taegan Vinarsky, Caroline Gheen, Zachary Rohm, Carynn Koch, Margareta A Clarke, Rachael Cheek, John Kramer, James Eaton, Manus J Donahue, Francesca Bagnato","doi":"10.1002/acn3.52202","DOIUrl":"10.1002/acn3.52202","url":null,"abstract":"<p><strong>Objective: </strong>Paramagnetic rim lesions (PRLs) are a biomarker of chronic active lesions (CALs), and an important driver of neurological disability in multiple sclerosis (MS). The reason subtending some acute lesions evolvement into CALs is not known. Here we ask whether a relatively lower oxygen content is linked to CALs.</p><p><strong>Methods: </strong>In this prospective cross-sectional study, 64 people with multiple sclerosis (PwMS), clinically isolated syndrome and radiologically isolated syndrome underwent a 7.0 Tesla (7 T) brain magnetic resonance imaging (MRI). The scanning protocol included a T<sub>2</sub>-w fluid-attenuated inversion recovery (FLAIR), and a single echo gradient echo from which susceptibility-weighted imaging (SWI) was derived. WM lesions were identified on the T<sub>2</sub>-w-FLAIR whilst PRLs were identified on the SWI sequence. T<sub>2</sub>-lesions were classified as PRLs and rimless lesions (PRLs-). We registered a universal vascular atlas to each subject's T<sub>2</sub>-w-FLAIR and classified each T<sub>2</sub>-lesions according to its location into watershed- (ws), non-watershed- (nws), and mixed-lesion (m). Ws-lesions were defined as lesions that were fully located in a region between the territories of two major arteries.</p><p><strong>Results: </strong>Out of 1,975 T<sub>2</sub>-lesions, 88 (4.5%) were PRLs. Ws-regions had a higher number (p = 0.005) and proportion (p < 0.001) of PRLs- compared to nws-regions. Ws-PRL- were larger compared to nws-ones (p = 0.009). The number (p = 0.043) and proportion (p < 0.001) of PRLs was higher in ws-regions compared to nws-ones. Ws-PRLs were not significantly larger than nws-ones (p = 0.195).</p><p><strong>Interpretation: </strong>We propose the novel concept of a link between arterial vascularization and chronic activity in MS by demonstrating a preferential localization of CALs in ws-territories.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":"2912-2922"},"PeriodicalIF":4.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52202","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142491387","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nisa Vorasoot, Yahya J Abdulrahman, Farrah Mateen, James P Fryer, Vyanka Redenbaugh, Jessica A Sagen, Abdu K Musubire, Sarah M Jenkins, Amy P Gorsh, John J Chen, Anastasia Zekeridou, Andrew McKeon, Eoin P Flanagan, John R Mills, Sean J Pittock
{"title":"Dried blood spot improves global access to aquaporin-4-IgG testing for neuromyelitis optica.","authors":"Nisa Vorasoot, Yahya J Abdulrahman, Farrah Mateen, James P Fryer, Vyanka Redenbaugh, Jessica A Sagen, Abdu K Musubire, Sarah M Jenkins, Amy P Gorsh, John J Chen, Anastasia Zekeridou, Andrew McKeon, Eoin P Flanagan, John R Mills, Sean J Pittock","doi":"10.1002/acn3.52178","DOIUrl":"10.1002/acn3.52178","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to evaluate the diagnostic accuracy of dried blood spot (DBS) compared with conventional serum Aquaporin-4-IgG (AQP4-IgG) testing.</p><p><strong>Methods: </strong>Prospective multicenter diagnostic study was conducted between April 2018 and October 2023 across medical centers in the United States, Uganda, and the Republic of Guinea. Neuromyelitis optica spectrum disorder (NMOSD) patients and controls collected blood on filter paper cards along with concurrent serum samples. These samples underwent analysis using flow cytometric live-cell-based assays (CBA) and enzyme-linked immunosorbent assay (ELISA) to determine AQP4 serostatus. The accuracy of AQP4-IgG detection between DBS and serum (gold standard) was compared.</p><p><strong>Results: </strong>Among 150 participants (47 cases, 103 controls), there was a strong correlation between DBS and serum samples (Spearman's correlation coefficient of 0.82). The AUC was 0.97 (95% CI: 0.92-0.99). AQP4-IgG detection through DBS showed 87.0% sensitivity (95% CI: 0.74-0.95) and 100% specificity (95% CI: 0.96-1.00) using CBA, and 65.2% sensitivity (95% CI: 0.43-0.84) and 95.2% specificity (95% CI: 0.76-0.99) using ELISA. Serum ELISA demonstrated 69.6% sensitivity (95% CI: 0.47-0.87) and 98.4% specificity (95% CI: 0.91-0.99). The stability of DBS in detecting AQP4-IgG persisted over 24 months for most cases.</p><p><strong>Interpretation: </strong>The DBS represents a viable alternative for detecting AQP4-IgG in resource-limited settings to diagnose NMOSD, offering high sensitivity and specificity comparable to serum testing. Moreover, DBS has low shipping costs, is easy to administer, and is suitable for point-of-care testing.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":"2855-2865"},"PeriodicalIF":4.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52178","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142453938","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Davide Ranucci, Fabrizia Falco, Valerio Nicolella, Cristina Di Monaco, Laura Migliaccio, Federica Lamagna, Federica Caracciolo, Martina Eliano, Maria Petracca, Marcello Moccia, Vincenzo Brescia Morra, Antonio Carotenuto, Roberta Lanzillo
{"title":"Dysphagia assessment in patients with multiple sclerosis - an additional piece to disability burden.","authors":"Davide Ranucci, Fabrizia Falco, Valerio Nicolella, Cristina Di Monaco, Laura Migliaccio, Federica Lamagna, Federica Caracciolo, Martina Eliano, Maria Petracca, Marcello Moccia, Vincenzo Brescia Morra, Antonio Carotenuto, Roberta Lanzillo","doi":"10.1002/acn3.52206","DOIUrl":"10.1002/acn3.52206","url":null,"abstract":"<p><strong>Objective: </strong>People with multiple sclerosis (MS) might experience symptoms that are usually underestimated. Dysphagia should be evaluated within the Expanded Disability Status Scale (EDSS), but clinicians often do not assess it properly. The objectives of this study are as follows: To assess the prevalence of dysphagia in patients with MS utilizing the Swallowing Disturbance Questionnaire (SDQ); to examine the correlation with the EDSS; to investigate the relationship between dysphagia and clinico-demographic characteristics of MS.</p><p><strong>Methods: </strong>In total, 177 MS patients underwent evaluations with EDSS, SDQ, cognitive functions, anxiety, depression, fatigue, and sleep quality tests. We compared clinico-demographic data of patients with and without dysphagia and native-EDSS to SDQ-EDSS.</p><p><strong>Results: </strong>Out of the 177 MS patients, 56% of individuals were identified having dysphagia according to the SDQ with 41 patients exhibiting mild dysphagia, 31 showing moderate dysphagia and 27 patients having severe dysphagia. Only 6 patients had dysphagia recorded in the EDSS. SDQ-EDSS scores were significantly higher than native scores. Dysphagia was associated with depressive symptoms and sleep quality.</p><p><strong>Interpretation: </strong>Dysphagia affects up to 56% of MS patients. The SDQ questionnaire is useful for identifying dysphagia, which can help in capturing disease progression and preventing complications like aspiration pneumonia. The SDQ-EDSS was higher than the native-EDSS, reflecting the poor ability of the native-EDSS to evaluate certain symptoms such as dysphagia. The SDQ correlated with depressive symptoms, which are associated with a greater perception of MS symptoms, and poor sleep quality, which could be associated with the triggering of pathogenic mechanisms responsible for disease progression.</p>","PeriodicalId":126,"journal":{"name":"Annals of Clinical and Translational Neurology","volume":" ","pages":"2958-2966"},"PeriodicalIF":4.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/acn3.52206","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142337697","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}