keyword
https://read.qxmd.com/read/38477424/individuals-experiences-in-genetic-counseling-and-predictive-testing-for-familial-amyotrophic-lateral-sclerosis
#21
JOURNAL ARTICLE
Connolly G Steigerwald, Carina Bertolini, Martin McElhiney, Amanda L Bergner, Matthew B Harms, Elizabeth A Harrington
As clinical genetic testing in the amyotrophic lateral sclerosis (ALS) diagnostic setting increases, the identification of at-risk family members has also expanded. No practice guidelines specifically for predictive genetic testing exist, and few studies about the psychological impacts of testing in this subgroup have occurred, limiting the ability to tailor recommendations and counseling in this community. We surveyed asymptomatic individuals at risk for inheriting an ALS-associated gene mutation. The 80-question survey was designed using a combination of validated measures (General Anxiety Disorder; FACToR; Decision Regret Scale) and original items...
March 13, 2024: Journal of Genetic Counseling
https://read.qxmd.com/read/38475709/shared-and-distinct-interactions-of-type-1-and-type-2-epstein-barr-nuclear-antigen-2-with-the-human-genome
#22
JOURNAL ARTICLE
Kenyatta C M F Viel, Sreeja Parameswaran, Omer A Donmez, Carmy R Forney, Matthew R Hass, Cailing Yin, Sydney H Jones, Hayley K Prosser, Arame A Diouf, Olivia E Gittens, Lee E Edsall, Xiaoting Chen, Hope Rowden, Katelyn A Dunn, Rui Guo, Andrew VonHandorf, Merrin Man Long Leong, Kevin Ernst, Kenneth M Kaufman, Lucinda P Lawson, Ben Gewurz, Bo Zhao, Leah C Kottyan, Matthew T Weirauch
BACKGROUND: There are two major genetic types of Epstein-Barr Virus (EBV): type 1 (EBV-1) and type 2 (EBV-2). EBV functions by manipulating gene expression in host B cells, using virus-encoded gene regulatory proteins including Epstein-Barr Nuclear Antigen 2 (EBNA2). While type 1 EBNA2 is known to interact with human transcription factors (hTFs) such as RBPJ, EBF1, and SPI1 (PU.1), type 2 EBNA2 shares only ~ 50% amino acid identity with type 1 and thus may have distinct binding partners, human genome binding locations, and functions...
March 12, 2024: BMC Genomics
https://read.qxmd.com/read/38473835/the-role-of-selected-interleukins-in-the-development-and-progression-of-multiple-sclerosis-a-systematic-review
#23
REVIEW
Cezary Grunwald, Anna Krętowska-Grunwald, Edyta Adamska-Patruno, Jan Kochanowicz, Alina Kułakowska, Monika Chorąży
Multiple sclerosis is a disabling inflammatory disorder of the central nervous system characterized by demyelination and neurodegeneration. Given that multiple sclerosis remains an incurable disease, the management of MS predominantly focuses on reducing relapses and decelerating the progression of both physical and cognitive decline. The continuous autoimmune process modulated by cytokines seems to be a vital contributing factor to the development and relapse of multiple sclerosis. This review sought to summarize the role of selected interleukins in the pathogenesis and advancement of MS...
February 23, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38469271/disclosing-or-concealing-multiple-sclerosis-in-the-workplace-two-sides-of-the-same-coin-insights-from-a-swedish-population-based-survey
#24
JOURNAL ARTICLE
Jessica Dervish, Victoria Mailen Arfuch, Chantelle Murley, Kyla A McKay, Alejandra Machado, Agneta Wennman-Larsen, Emilie Friberg
BACKGROUND: People with multiple sclerosis (PwMS) face health and social challenges of living with a chronic and potentially disabling condition. To disclose or conceal MS at work may critically affect individuals' work situation, career opportunities, and health. PwMS may experience a dilemma when assessing if the possible benefits of disclosing the diagnosis outweigh the possible risks. However, concealing in the long-term may have health implications and prevent opportunities for support and work adjustments...
2024: Frontiers in Public Health
https://read.qxmd.com/read/38468371/in-vitro-effect-of-ebv-infection-on-herv-k18-env-expression-in-the-presence-and-absence-of-vitamin-d-in-multiple-sclerosis-patients
#25
JOURNAL ARTICLE
Tayebeh Latifi, Majid Teymoori-Rad, Ahmad Nejati, Shohreh Shahmahmoodi, Farhad Rezaei, Sayed Mahdi Marashi
BACKGROUND: HERV-K env is associated with several neurological disorders, including MS. Clinical studies have demonstrated a plausible interaction between HERV-K env and other MS risk factors. The present study aimed to investigate the possible association between HERV-K18 env and TGF-β. We further assessed the in vitro effect of EBV infection on HERV-K18 env expression in the presence and absence of vitamin D in MS patients. METHODS: PBMCs from 20 MS patients and 20 healthy controls were infected with the B95...
October 29, 2023: Iranian Biomedical Journal
https://read.qxmd.com/read/38460252/prognostic-factors-of-tumefactive-demyelinating-lesions-and-differential-features-for-multiple-sclerosis-in-etiology
#26
JOURNAL ARTICLE
Furkan Saridas, Gizem Mesut, Ceren Yayla Ceylan, Rifat Ozpar, Mine Ozsen, Emine Rabia Koc, Sahsine Tolunay, Bahattin Hakyemez, Omer Faruk Turan
BACKGROUND: Many different pathologies may underlie tumefactive demyelinating lesions. Identifying clinical and radiologic distinguishing features before pathologic examination is essential for diagnosis and treatment. In this study, we aimed to determine the clinical and radiologic features affecting the etiology and disease course of patients with tumefactive lesions (TDL). MATERIALS AND METHODS: We included 35 clinicoradiologically or histologically diagnosed TDL patients in our center over 11 years...
March 5, 2024: Multiple Sclerosis and related Disorders
https://read.qxmd.com/read/38454065/knowledge-perceptions-and-beliefs-about-urinary-tract-infections-in-persons-with-neurogenic-bladder-and-impacts-on-interventions-to-promote-person-centered-care
#27
JOURNAL ARTICLE
Margaret A Fitzpatrick, Pooja Solanki, Marissa Wirth, Frances M Weaver, Katie J Suda, Stephen P Burns, Nasia Safdar, Eileen Collins, Charlesnika T Evans
STUDY DESIGN: Qualitative study. OBJECTIVES: To explore how knowledge, perceptions, and beliefs about urinary tract infections (UTIs) among persons with neurogenic bladder (NB) may impact health behaviors and provider management and enhance person-centeredness of interventions to improve UTI management. SETTING: Three Veterans Affairs (VA) medical centers. METHODS: Adults with NB due to spinal cord injury/disorder (SCI/D) or multiple sclerosis (MS) with UTI diagnoses in the prior year participated in focus groups...
March 7, 2024: Spinal Cord
https://read.qxmd.com/read/38452646/disparities-in-dmt-treatment-demographic-and-neurocognitive-differences-between-ms-patients-currently-treated-versus-not-treated-with-disease-modifying-therapies
#28
JOURNAL ARTICLE
Victoria M Leavitt, Jordan D Dworkin, Rachel Galioto, Alexander S Ratzan
BACKGROUND: Current treatment guidelines recommend consideration of disease-modifying therapy (DMT) for all multiple sclerosis (MS) patients, but barriers to access have begun to be identified. In particular, prior studies have found that people with higher education have better access to DMTs, perhaps explained by the association of higher education with higher income. And while the majority of people with MS are women, being male is also associated with higher income. These factors argue for the need to better understand whether there are differences in DMT uptake based on sex and education...
February 22, 2024: Multiple Sclerosis and related Disorders
https://read.qxmd.com/read/38436259/deciphering-the-association-of-epstein-barr-virus-and-its-glycoprotein-m-peptide-with-neuropathologies-in-mice
#29
JOURNAL ARTICLE
Annu Rani, Priyanka Patra, Tarun Prakash Verma, Anamika Singh, Ajay Kumar Jain, Neha Jaiswal, Sanjeev Narang, Nitish Mittal, Hamendra Singh Parmar, Hem Chandra Jha
The reactivation of ubiquitously present Epstein-Barr virus (EBV) is known to be involved with numerous diseases, including neurological ailments. A recent in vitro study from our group unveiled the association of EBV and its 12-amino acid peptide glycoprotein M146-157 (gM146-157 ) with neurodegenerative diseases, viz., Alzheimer's disease (AD) and multiple sclerosis. In this study, we have further validated this association at the in vivo level. The exposure of EBV/gM146-157 to mice causes a decline in the cognitive ability with a concomitant increase in anxiety-like symptoms through behavioral assays...
March 4, 2024: ACS Chemical Neuroscience
https://read.qxmd.com/read/38434464/frequency-of-dimethyl-fumarate-induced-lymphopenia-among-omani-patients-with-multiple-sclerosis
#30
JOURNAL ARTICLE
Ahmed Jaboob, Abdullah Al Asmi, M Mazharul Islam, Syed Rezvi, Iman Redha, Jaber Al-Khabouri, Ibrahim Al-Zakwani, Ahmed Al-Qassabi, Haifa Al-Abri, Arunodaya R Gujjar
OBJECTIVES: Dimethyl fumarate (DMF) is known to cause lymphopenia when used to treat patients with multiple sclerosis (MS). However, research on DMF therapy in the Arab world, especially in Oman, is scarce. This study aimed to analyse the prevalence of lymphopenia among Omani patients with MS and their reasons for discontinuing DMF therapy. METHODS: In this retrospective study, the medical records of Omani patients with MS who were treated using DMF at two tertiary hospitals in Muscat, Oman, from February 2017 to February 2023 were reviewed...
February 2024: Sultan Qaboos University Medical Journal
https://read.qxmd.com/read/38433754/prenatal-diagnosis-and-clinical-management-of-cardiac-rhabdomyoma-a-single-center-study
#31
JOURNAL ARTICLE
Longzhuang Peng, Youchun Cai, Jianhang Wu, Wen Ling, Qiumei Wu, Shan Guo, Biying Huang, Caihong Jiang, Zongjie Weng
OBJECTIVE: The study aims to assess the ultrasonic features of fetal cardiac rhabdomyoma (CR), track the perinatal outcome and postnatal disease progression, investigate the clinical utility of ultrasound, MRI and tuberous sclerosis complex (TSC) gene analysis in CR evaluation, and offer evidence for determing of fetal CR prognosis. METHODS: We conducted a retrospective analysis of prenatal ultrasound-diagnosed fetal CR cases in our hospital from June 2011 to June 2022, tracked the perinatal outcomes, regularly followed live infants to analyze cardiac lesion changes and disease progression, and compared the sensitivities of ultrasound, MRI and their combination in the detecting of intracranial sclerosing nodules...
2024: Frontiers in Cardiovascular Medicine
https://read.qxmd.com/read/38432589/perspective-the-impact-of-fasting-and-caloric-restriction-on-neurodegenerative-diseases-in-humans
#32
JOURNAL ARTICLE
Bérénice Hansen, Kirsten Roomp, Hebah Ebid, Jochen G Schneider
Neurodegenerative diseases (NDs) are characterized by the progressive functional and structural denaturation of neurons in the central and peripheral nervous systems. Despite the wide range of genetic predispositions, the increased emergence of these disorders has been associated with a variety of modifiable risk factors, including lifestyle factors. Diet has been shown to influence cognitive alterations in the elderly population with age-related brain pathologies, and specific dietary interventions might, therefore, confer preservatory protection to neural structures...
March 1, 2024: Advances in Nutrition
https://read.qxmd.com/read/38430933/associations-of-environmental-factors-with-neurodegeneration-an-exposome-wide-mendelian-randomization-investigation
#33
REVIEW
Dun Li, Lihui Zhou, Zhi Cao, Jida Wang, Hongxi Yang, Mingqian Lyu, Yuan Zhang, Rongrong Yang, Ju Wang, Yuhong Bian, Weili Xu, Yaogang Wang
Neurodegenerative diseases (NDDs) remain a global health challenge. Previous studies have reported potential links between environmental factors and NDDs, however, findings remain controversial across studies and elusive to be interpreted as evidence of robust causal associations. In this study, we comprehensively explored the causal associations of the common environmental factors with major NDDs including Alzheimer's disease (AD), Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS), and multiple sclerosis (MS), based on updated large-scale genome-wide association study data through two-sample Mendelian randomization (MR) approach...
March 2024: Ageing Research Reviews
https://read.qxmd.com/read/38430178/clinical-characteristics-of-multiple-sclerosis-patients-complicated-by-disabilities-and-analysis-of-risk-factors-related-to-disease-progression
#34
JOURNAL ARTICLE
Sa Wang, Wenting You, Long He, Youbing Mao, Hao Yu, Yinxi Zhang
OBJECTIVE: To analyze the clinical characteristics of multiple sclerosis (MS) patients complicated by disabilities in China, and to discuss the related factors of disease progression. METHODS: Ninety-three MS patients presented to our hospital between March 2017 and December 2019 were selected as the research participants to conduct a retrospective analysis. Demographic information, onset time, onset age, clinical symptoms, MS types, and Expanded Disability Status Scale (EDSS) score were collected from all patients, and preliminary observation was made on MS cases in China...
March 1, 2024: Alternative Therapies in Health and Medicine
https://read.qxmd.com/read/38428973/factors-associated-with-satisfaction-with-social-roles-and-activities-among-people-with-systemic-sclerosis-a-scleroderma-patient-centered-intervention-network-spin-cohort-cross-sectional-study
#35
JOURNAL ARTICLE
Tiffany Dal Santo, Danielle Rice, Marie-Eve Carrier, Gabrielle Virgili-Gervais, Brooke Levis, Linda Kwakkenbos, Susan J Bartlett, Amy Gietzen, Karen Gottesman, Genevieve Guillot, Marie Hudson, Laura K Hummers, Vanessa Malcarne, Maureen Mayes, Luc Mouthon, Michelle Richard, Maureen Sauve, Robyn Wojeck, Marie-Claude Geoffroy, Andrea Benedetti, Brett Thombs
OBJECTIVE: The objectives were to (1) compare satisfaction with social roles and activities in a large multinational systemic sclerosis (SSc) cohort to general population normative data and (2) identify sociodemographic, lifestyle and SSc disease factors associated with satisfaction with social roles and activities. METHODS: Participants in the Scleroderma Patient-centered Intervention Network Cohort completed the Patient Reported Outcomes Information System Version 2 satisfaction with social roles and activities domain questionnaire...
February 29, 2024: RMD Open
https://read.qxmd.com/read/38428126/impact-of-tobacco-smoking-on-disease-specific-outcomes-in-common-neurological-disorders-a-scoping-review
#36
REVIEW
Farah Wahbeh, Daniel Restifo, Sa'ad Laws, Anokhi Pawar, Neal S Parikh
Although the association of smoking with the risk of incident neurological disorders is well established, less is known about the impact of smoking and smoking cessation on outcomes of these conditions. The objective of this scoping review was to synthesize what is known about the impact of smoking and smoking cessation on disease-specific outcomes for seven common neurological disorders. We included 67 studies on the association of smoking and smoking cessation on disease-specific outcomes. For multiple sclerosis, smoking was associated with greater clinical and radiological disease progression, relapses, risk for disease-related death, cognitive decline, and mood symptoms, in addition to reduced treatment effectiveness...
February 29, 2024: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://read.qxmd.com/read/38421420/risk-of-secondary-progression-in-patients-with-highly-active-multiple-sclerosis-treated-with-natalizumab-a-real-life-study
#37
JOURNAL ARTICLE
Louisa Scherer, Marc Soudant, Sophie Pittion-Vouyovitch, Marc Debouverie, Francis Guillemin, Jonathan Epstein, Guillaume Mathey
BACKGROUND: one of the most important therapeutic goals in relapse-onset multiple sclerosis is to preclude conversion to secondary progression. Our objective was to determine the risk of progression associated with natalizumab treatment in an registry-based cohort of patients and to identify determinant factors. METHODS: Patients with relapse-onset multiple sclerosis from the Registre Lorrain des Scléroses en Plaques (ReLSEP) were included if they had received one infusion of natalizumab between 2002 and 2021...
February 29, 2024: Journal of Neurology
https://read.qxmd.com/read/38419027/limited-utility-of-adding-3t-cervical-spinal-cord-mri-to-monitor-disease-activity-in-multiple-sclerosis
#38
JOURNAL ARTICLE
Timothy Reynold U Lim, Sunitha P Kumaran, Suradech Suthiphosuwan, Adrian I Espiritu, Ashley Jones, Amy Wei Lin, Jiwon Oh, Aditya Bharatha
BACKGROUND: Performing routine brain magnetic resonance imaging (MRI) is widely accepted as the standard of care for disease monitoring in multiple sclerosis (MS), but the utility of performing routine spinal cord (SC) MRI for this purpose is still debatable. OBJECTIVE: This study aimed to measure the frequency of new isolated cervical spinal cord lesions (CSLs) in people with MS (pwMS) undergoing routine brain and cervical SC-MRI for disease monitoring and determine the factors associated with the development of new CSLs and their prognostic value...
February 28, 2024: Multiple Sclerosis: Clinical and Laboratory Research
https://read.qxmd.com/read/38418663/vocabulary-knowledge-as-a-reliable-proxy-of-cognitive-reserve-in-multiple-sclerosis-a-validation-study
#39
JOURNAL ARTICLE
Gianpaolo Maggi, Manuela Altieri, Mario Risi, Valentina Rippa, Riccardo Maria Borgo, Rosaria Sacco, Daniela Buonanno, Alessandro D'Ambrosio, Alvino Bisecco, Gabriella Santangelo, Antonio Gallo
INTRODUCTION: The present study aimed to explore the suitability of the vocabulary knowledge (VOC) test as an accurate and reliable proxy of cognitive reserve (CR) by evaluating its psychometric properties and discrimination accuracy compared with other CR measures in multiple sclerosis (MS). METHODS: Sixty-eight consecutive people with multiple sclerosis (pwMS), followed at our MS outpatient clinic, completed a clinical evaluation and neuropsychological assessment including: VOC, Brief Repeatable Battery of Neuropsychological Tests (BRB-N), Cognitive Reserve Index Questionnaire (CRIq), Beck Depression Inventory-II, and State-Trait Anxiety Inventory...
February 28, 2024: Neurological Sciences
https://read.qxmd.com/read/38418465/applying-a-genetic-risk-score-model-to-enhance-prediction-of-future-multiple-sclerosis-diagnosis-at-first-presentation-with-optic-neuritis
#40
JOURNAL ARTICLE
Pavel Loginovic, Feiyi Wang, Jiang Li, Lauric Ferrat, Uyenlinh L Mirshahi, H Shanker Rao, Axel Petzold, Jessica Tyrrell, Harry D Green, Michael N Weedon, Andrea Ganna, Tiinamaija Tuomi, David J Carey, Richard A Oram, Tasanee Braithwaite
Optic neuritis (ON) is associated with numerous immune-mediated inflammatory diseases, but 50% patients are ultimately diagnosed with multiple sclerosis (MS). Differentiating MS-ON from non-MS-ON acutely is challenging but important; non-MS ON often requires urgent immunosuppression to preserve vision. Using data from the United Kingdom Biobank we showed that combining an MS-genetic risk score (GRS) with demographic risk factors (age, sex) significantly improved MS prediction in undifferentiated ON; one standard deviation of MS-GRS increased the Hazard of MS 1...
February 28, 2024: Nature Communications
keyword
keyword
47041
2
3
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.