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4,146 results on '"Al-Chalabi A"'

1. Effect of Planting Time and Corms Treatment with Gibberellic Acid on Growth, Flowering, and Vase Life of Freesia hybrida ‘Corona’

Author

Adil Asmaa Mohammed, Ahmed Ebtisam Esmaael, Al-Chalabi Angham Talal, and Al-Ma’athedi Ali Farouq

Subjects
cut flowers, corm yield, flower quality, days to sprouting, water uptake, Plant culture, SB1-1110
Abstract

Freesia hybrida is one of the most important cut flowers with a short vase life. The present study was conducted to explain the effect of the two planting dates December 1st and 15th and soaking corms before planting in gibberellic acid at concentrations of 0, 75, and 150 mg·L−1 on the growth, flowering, and flowers quality of Freesia hybrida ‘Corona’. A larger diameter of the inflorescence stem and floret head, fresh weight of inflorescence, and longer vase life were obtained when planted on December 1st. Soaking the corms in a GA3 solution of 150 mg·L−1 before planting significantly extended the vase life compared to the control. Finally, it can be concluded that the planting of corms soaked in a solution of 150 mg·L−1 GA3 on December 1st in unheated greenhouses can improve the growth, development, and quality of flowers of Freesia hybrida ‘Corona’.

Published
2021
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4. The Miami Framework for ALS and related neurodegenerative disorders: an integrated view of phenotype and biology

Author

Benatar, Michael, Wuu, Joanne, Huey, Edward D., McMillan, Corey T., Petersen, Ronald C., Postuma, Ronald, McHutchison, Caroline, Dratch, Laynie, Arias, Jalayne J., Crawley, Anita, Houlden, Henry, McDermott, Michael P., Cai, Xueya, Thakur, Neil, Boxer, Adam, Rosen, Howard, Boeve, Bradley F., Dacks, Penny, Cosentino, Stephanie, Abrahams, Sharon, Shneider, Neil, Lingor, Paul, Shefner, Jeremy, Andersen, Peter M., Al-Chalabi, Ammar, and Turner, Martin R.

Published
2024
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5. A smart system for student performance assessment (SPA)

Author

Samar Mouti and Hani Al-Chalabi

Subjects
Expert systems, Interference engine, Knowledge base, Students’ achievements, Course learning outcomes, Medicine, Science
Abstract

Abstract The proposed smart system for Student Performance Assessment (SPA) is a system that evaluates students' knowledge and skill attainment in a specific course by measuring their achievements of the Course Learning Outcomes (CLOs). The instructor defines the aspects, weights, and rating scale used by SPA to analyze each course. The system calculates the average of students' marks in each learning outcome and compares them with the CLO targets and scores to determine the effectiveness of the teaching and learning methods used. The system uses facts and rules extracted from the course syllabus and Bloom's Taxonomy to build its knowledge base. This paper presents the development of the SPA inference engine, which is used to find CLO targets based on the course level. The inference engine uses efficient procedures and a prediction process to determine the correct target and score, providing a reliable and understandable methodology for reasoning about the information in the knowledge base and formulating conclusions. SPA is a highly responsive and intelligent system that can be a valuable tool for measuring students' achievements. Its characteristics include high performance, reliability, and intelligibility, and its combination of cognitive systems and cognitive theory has led to remarkable progress in measuring student performance. Limitations include dependency on accurate course content and initial setup time, potential bias in CLO weight assignments, challenges in integrating SPA with existing institutional databases, the need for continuous updates to the knowledge base to reflect curriculum changes, and potential resistance from educators to adopt new technologies. Future improvements could involve adaptive learning integrations, enhanced user interfaces, and broader applicability across diverse educational settings.

Published
2024
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7. Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

Author

Opie-Martin, Sarah, Iacoangeli, Alfredo, Topp, Simon D., Abel, Olubunmi, Mayl, Keith, Mehta, Puja R., Shatunov, Aleksey, Fogh, Isabella, Bowles, Harry, Limbachiya, Naomi, Spargo, Thomas P., Al-Khleifat, Ahmad, Williams, Kelly L., Jockel-Balsarotti, Jennifer, Bali, Taha, Self, Wade, Henden, Lyndal, Nicholson, Garth A., Ticozzi, Nicola, McKenna-Yasek, Diane, Tang, Lu, Shaw, Pamela J., Chio, Adriano, Ludolph, Albert, Weishaupt, Jochen H., Landers, John E., Glass, Jonathan D., Mora, Jesus S., Robberecht, Wim, Damme, Philip Van, McLaughlin, Russell, Hardiman, Orla, van den Berg, Leonard, Veldink, Jan H., Corcia, Phillippe, Stevic, Zorica, Siddique, Nailah, Silani, Vincenzo, Blair, Ian P., Fan, Dong-sheng, Esselin, Florence, de la Cruz, Elisa, Camu, William, Basak, Nazli A., Siddique, Teepu, Miller, Timothy, Brown, Robert H., Al-Chalabi, Ammar, and Shaw, Christopher E.

Published
2024
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9. Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of ALS

Author

Heather Marriott, Thomas P. Spargo, Ahmad Al Khleifat, Peter M Andersen, Nazli A. Başak, Johnathan Cooper‐Knock, Philippe Corcia, Philippe Couratier, Mamede deCarvalho, Vivian Drory, Marc Gotkine, John E. Landers, Russell McLaughlin, Jesús S. Mora Pardina, Karen E. Morrison, Susana Pinto, Christopher E. Shaw, Pamela J. Shaw, Vincenzo Silani, Nicola Ticozzi, Philip vanDamme, Leonard H. van denBerg, Patrick Vourc'h, Markus Weber, Jan H. Veldink, Project MinE ALS Sequencing Consortium, Richard J. Dobson, Patrick Schwab, Ammar Al‐Chalabi, and Alfredo Iacoangeli

Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Objective Neurofilament heavy‐chain gene (NEFH) variants are associated with multiple neurodegenerative diseases, however, their relationship with ALS has not been robustly explored. Still, NEFH is commonly included in genetic screening panels worldwide. We therefore aimed to determine if NEFH variants modify ALS risk. Methods Genetic data of 11,130 people with ALS and 7,416 controls from the literature and Project MinE were analysed. We performed meta‐analyses of published case–control studies reporting NEFH variants, and variant analysis of NEFH in Project MinE whole‐genome sequencing data. Results Fixed‐effects meta‐analysis found that rare (MAF

Published
2024
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10. Practicing Peer Physical Examination by Medical and Allied Health Professions Students: Why the Hesitation and Where are We Now? A Narrative Literature Review

Author

Al-Chalabi N

Subjects
peer physical examination, medical students, attitude, willingness, acceptance., Special aspects of education, LC8-6691, Medicine (General), R5-920
Abstract

Noor Al-Chalabi Faculty of Life Sciences and Education, The University of South Wales Prifysgol De Cymru, Pontypridd, South Wales, UKCorrespondence: Noor Al-Chalabi, Faculty of Life Sciences and Education, The University of South Wales Prifysgol De Cymru, Pontypridd, South Wales, CF37 4BD, UK, Email chalabinoor@yahoo.comObjective: This narrative review aimed to examine the common existing factors that can influence medical students’ attitudes and acceptability of peer physical examination, the presence of any variations of such attitudes over the time period included in the review, and provide measures to improve the acceptability of this practice, and directs attention to future research.Methods: This study utilized a systematic and comprehensive search technique to find relevant publications based on pre-defined eligibility criteria. Electronic searches were conducted using two search engines, PubMed and Google Scholar, with an additional manual search on Medical Teacher Journal. In addition, a critical evaluation tool was applied to critically assess each article.Results: Evidence indicated that gender is consistently reported as the most influential factor affecting the acceptance of peer physical examination among healthcare professionals, independent of the presence of other factors. Essentially, conservative cultures, religion, and particular ethnicities are still exerting their impacts on the participant’s willingness to participate in this activity. In addition, the current study found no significant variations in accepting this practice by the students over the reviewed period of time.Conclusion: According to the evidence provided by this review, a number of possible recommendations should be considered to boost and optimize the applicability of PPE. These include starting with non-sensitive areas, using single-gender pairing, and considering cultural and religious beliefs. Finally, there is a pressing need for future research, including multi-centric studies with larger and more diverse samples.Keywords: peer physical examination, medical students, attitude, willingness, acceptance

Published
2024

11. Harnessing transcriptomic signals for amyotrophic lateral sclerosis to identify novel drugs and enhance risk prediction

Author

Oliver Pain, Ashley Jones, Ahmad Al Khleifat, Devika Agarwal, Dzmitry Hramyka, Hajer Karoui, Jędrzej Kubica, David J. Llewellyn, Janice M. Ranson, Zhi Yao, Alfredo Iacoangeli, and Ammar Al-Chalabi

Subjects
Science (General), Q1-390, Social sciences (General), H1-99
Abstract

Introduction: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease. This study integrates common genetic association results from the latest ALS genome-wide association study (GWAS) summary statistics with functional genomic annotations with the aim of providing mechanistic insights into ALS risk loci, inferring drug repurposing opportunities, and enhancing prediction of ALS risk and clinical characteristics. Methods: Genes associated with ALS were identified using GWAS summary statistic methodology including SuSiE SNP-based fine-mapping, and transcriptome- and proteome-wide association study (TWAS/PWAS) analyses. Using several approaches, gene associations were integrated with the DrugTargetor drug-gene interaction database to identify drugs that could be repurposed for the treatment of ALS. Furthermore, ALS gene associations from TWAS were combined with observed blood expression in two external ALS case-control datasets to calculate polytranscriptomic scores and evaluate their utility for prediction of ALS risk and clinical characteristics, including site of onset, age at onset, and survival. Results: SNP-based fine-mapping, TWAS and PWAS identified 118 genes associated with ALS, with TWAS and PWAS providing novel mechanistic insights. Drug repurposing analyses identified six drugs significantly enriched for interactions with ALS associated genes, though directionality could not be determined. Additionally, drug class enrichment analysis showed gene signatures linked to calcium channel blockers may reduce ALS risk, whereas antiepileptic drugs may increase ALS risk. Across the two observed expression target samples, ALS polytranscriptomic scores significantly predicted ALS risk (R2 = 5.1 %; p-value = 3.2 × 10−27) and clinical characteristics. Conclusions: Functionally-informed analyses of ALS GWAS summary statistics identified novel mechanistic insights into ALS aetiology, highlighted several therapeutic research avenues, and enabled statistically significant prediction of ALS risk.

Published
2024
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12. Innovative pre-fire alert smart detection system-based embedded system

Author

Sadeem Marouf Al-Chalabi, Atheer Marouf Al-Chalabi, and Rami Ali Al-Khafaji

Subjects
Physics, QC1-999
Abstract

Early fire identification is critical to saving lives and property. One viable strategy for improving fire detection systems’ efficacy and precision is the use of Internet of Things (IoT) technology. This article details research into the conception and development of an IoT, ESP32-based, Arduino MEGA-connected smart pre-alert detection system for fires. Because of its flexible nature, the Arduino microcontroller can easily exchange data with various sensors for real-time monitoring and analysis. This study surveys the existing literature to provide insight into many approaches to early fire detection (forecasting), such as sensor fusion methods and the use of the intelligence concept as a pre-predictor. The research highlights the need to set up sophisticated fire monitoring and alarm systems and to develop predictive models based on sensor data. This study illustrates how embedded systems via IoT technology and the ESP32 architecture may improve the efficiency and dependability of very early fire detection systems. This research adds to the expanding corpus of information that may be used to improve fire safety in contemporary settings. The proposal’s sensors include an Arduino MEGA, an ESP32, a MAX6675 module, an MQ-Smoke, and an MQ-Natural Gas for collecting data, which are then processed using Cloud Firebase and a sleek mobile interface that can be reached overseas at any time.

Published
2024
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13. Toward an Efficient Practice for Computational Wind Load Evaluation of Low-Rise Buildings

Author

Al-Chalabi, Raghdah, Elshaer, Ahmed, di Prisco, Marco, Series Editor, Chen, Sheng-Hong, Series Editor, Vayas, Ioannis, Series Editor, Kumar Shukla, Sanjay, Series Editor, Sharma, Anuj, Series Editor, Kumar, Nagesh, Series Editor, Wang, Chien Ming, Series Editor, Cui, Zhen-Dong, Series Editor, Lu, Xinzheng, Series Editor, Desjardins, Serge, editor, Poitras, Gérard J., editor, El Damatty, Ashraf, editor, and Elshaer, Ahmed, editor

Published
2024
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14. Computational Wind Load Evaluation and Aerodynamic Mitigation of Low-Rise Building with Complex Roof Geometry

Author

Al-Chalabi, Raghdah, Ibrahim, Muhammad, Elshaer, Ahmed, di Prisco, Marco, Series Editor, Chen, Sheng-Hong, Series Editor, Vayas, Ioannis, Series Editor, Kumar Shukla, Sanjay, Series Editor, Sharma, Anuj, Series Editor, Kumar, Nagesh, Series Editor, Wang, Chien Ming, Series Editor, Gupta, Rishi, editor, Sun, Min, editor, Brzev, Svetlana, editor, Alam, M. Shahria, editor, Ng, Kelvin Tsun Wai, editor, Li, Jianbing, editor, El Damatty, Ashraf, editor, and Lim, Clark, editor

Published
2024
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16. Publisher Correction: The Miami Framework for ALS and related neurodegenerative disorders: an integrated view of phenotype and biology

Author

Benatar, Michael, Wuu, Joanne, Huey, Edward D., McMillan, Corey T., Petersen, Ronald C., Postuma, Ronald, McHutchison, Caroline, Dratch, Laynie, Arias, Jalayne J., Crawley, Anita, Houlden, Henry, McDermott, Michael P., Cai, Xueya, Thakur, Neil, Boxer, Adam, Rosen, Howard, Boeve, Bradley F., Dacks, Penny, Cosentino, Stephanie, Abrahams, Sharon, Shneider, Neil, Lingor, Paul, Shefner, Jeremy, Andersen, Peter M., Al-Chalabi, Ammar, and Turner, Martin R.

Published
2024
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20. Unsupervised machine learning identifies distinct ALS molecular subtypes in post-mortem motor cortex and blood expression data

Author

Heather Marriott, Renata Kabiljo, Guy P Hunt, Ahmad Al Khleifat, Ashley Jones, Claire Troakes, Project MinE ALS Sequencing Consortium, TargetALS Sequencing Consortium, Abigail L Pfaff, John P Quinn, Sulev Koks, Richard J Dobson, Patrick Schwab, Ammar Al-Chalabi, and Alfredo Iacoangeli

Subjects
Amyotrophic lateral sclerosis, Unsupervised and supervised machine learning, Precision medicine, Transcriptomics, Patient stratification, Biomarkers, Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Amyotrophic lateral sclerosis (ALS) displays considerable clinical and genetic heterogeneity. Machine learning approaches have previously been utilised for patient stratification in ALS as they can disentangle complex disease landscapes. However, lack of independent validation in different populations and tissue samples have greatly limited their use in clinical and research settings. We overcame these issues by performing hierarchical clustering on the 5000 most variably expressed autosomal genes from motor cortex expression data of people with sporadic ALS from the KCL BrainBank (N = 112). Three molecular phenotypes linked to ALS pathogenesis were identified: synaptic and neuropeptide signalling, oxidative stress and apoptosis, and neuroinflammation. Cluster validation was achieved by applying linear discriminant analysis models to cases from TargetALS US motor cortex (N = 93), as well as Italian (N = 15) and Dutch (N = 397) blood expression datasets, for which there was a high assignment probability (80–90%) for each molecular subtype. The ALS and motor cortex specificity of the expression signatures were tested by mapping KCL BrainBank controls (N = 59), and occipital cortex (N = 45) and cerebellum (N = 123) samples from TargetALS to each cluster, before constructing case-control and motor cortex-region logistic regression classifiers. We found that the signatures were not only able to distinguish people with ALS from controls (AUC 0.88 ± 0.10), but also reflect the motor cortex-based disease process, as there was perfect discrimination between motor cortex and the other brain regions. Cell types known to be involved in the biological processes of each molecular phenotype were found in higher proportions, reinforcing their biological interpretation. Phenotype analysis revealed distinct cluster-related outcomes in both motor cortex datasets, relating to disease onset and progression-related measures. Our results support the hypothesis that different mechanisms underpin ALS pathogenesis in subgroups of patients and demonstrate potential for the development of personalised treatment approaches. Our method is available for the scientific and clinical community at https://alsgeclustering.er.kcl.ac.uk .

Published
2023
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21. Identification of key miRNAs as regulatory biomarkers of gonadotropins leading to infertility in males

Author

N. A. Oohayyed, M. M. Mohammed, A. M. Al-Rahim, R. N. Al Chalabi, S. A. Shaban, and A. A. J. Suleiman

Subjects
gonadotropin, azoospermia, infertility biomarker, luteinizing hormone choriogonadotropin receptor, lhcgr, gonadotropin-releasing hormone receptor, gnrhr, follicle-stimulating hormone receptor, fshr, Gynecology and obstetrics, RG1-991
Abstract

Introduction. Infertility is a highly fatal reproductive system disorder that affects the ability of a couple to reproduce. Over the past decades, a drastic uplift has been recorded in infertility cases among males ranging from 20 to 70 % indicating spermatogenesis impairment.Aim: to identify key microRNAs (miRNAs) as regulatory biomarkers of gonadotropins involved in dysregulation of fertility-related genes to propose potential therapeutic strategies that would combat the action of oncogenic miRNAs (oncomiRs).Materials and Methods. Interaction analysis was performed between miRNAs and fertility-related genes namely luteinizing hormone choriogonadotropin receptor (LHCGR), gonadotropin-releasing hormone receptor (GnRHR), follicle-stimulating hormone receptor (FSHR) and cystic fibrosis transmembrane conductance regulator (CFTR) to identify key miRNAs as regulatory biomarkers of gonadotropins leading to infertility in males.Results. A total of 10, 13, 31 and 18 strong and potential binding sites were predicted for miRNAs-LHCGR, miRNAs-GnRHR, miRNAs-FSHR, and miRNAs-CFTR respectively employing miRWalk (comprehensive genetic database including miRNA targets) followed by identification of 6, 18, 55 and 17 significant interactions through RNA22. Subsequently shortlisted miRNAs and messenger RNA (mRNA) regions were subjected to Vfold-Pipeline and RNAComposer individually for 3D structure prediction. Additionally molecular docking was carried out between miRNAs and mRNAs models that discovered potential and stable interactions elucidating miR-6880-FSHR(R2) as a highly stable complex with least binding affinity (-566.3) and high confidence score (0.999).Conclusion. Hence this study proposes key oncomiRs as a diagnostic biomarker and therapeutic target to bring about a promising treatment strategy against male factor infertility. However wet lab investigations are required for further validations of proposed study.

Published
2023
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23. Acceptance and Commitment Therapy plus usual care for improving quality of life in people with motor neuron disease (COMMEND): a multicentre, parallel, randomised controlled trial in the UK

Author

Andreou, Penny, Androulaki-Korakaki, Dynameni, Blakeley, Claire, Bridges, Gary, Campbell, Iain, Davenport, Brittany, Dee, Annily, Drewry, Nicola, Flood, John, Fox, Annemieke, Girling, Melissa, Glew, Ruth, Hartley, Nick, Hocking, Sian, Howell, Mark, Keetharuth, Anju, Makin, Selina, Marsh, Jessica, Mayberry, Emily, McDonald, Alexa, McPartland, Roy, Meldrum, Steven, Mobley, Amanda, Murphy, Donnchadh, O'Brien, Marie Claire, Oliver, Mark, Patel, Darshna, Phipps, Emma, Read, Jessica, Roberts, Rhys, Rooney, Natasha, Smith, Carla, Statham, Jo, Thompson, Cara, Varma, Priya, Walker, Anne Marie, Waterhouse, Simon, Gould, Rebecca L, McDermott, Christopher J, Thompson, Benjamin J, Rawlinson, Charlotte V, Bursnall, Matt, Bradburn, Mike, Kumar, Pavithra, Turton, Emily J, White, David A, Serfaty, Marc A, Graham, Christopher D, McCracken, Lance M, Goldstein, Laura H, Al-Chalabi, Ammar, Orrell, Richard W, Williams, Tim, Noad, Rupert, Baker, Idris, Faull, Christina, Lambert, Thomas, Chhetri, Suresh K, Ealing, John, Hanratty, Anthony, Radunovic, Aleksandar, Gunawardana, Nushan, Meadows, Gail, Gorrie, George H, Young, Tracey, Lawrence, Vanessa, Cooper, Cindy, Shaw, Pamela J, and Howard, Robert J

Published
2024
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25. Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

Author

Sarah Opie-Martin, Alfredo Iacoangeli, Simon D. Topp, Olubunmi Abel, Keith Mayl, Puja R. Mehta, Aleksey Shatunov, Isabella Fogh, Harry Bowles, Naomi Limbachiya, Thomas P. Spargo, Ahmad Al-Khleifat, Kelly L. Williams, Jennifer Jockel-Balsarotti, Taha Bali, Wade Self, Lyndal Henden, Garth A. Nicholson, Nicola Ticozzi, Diane McKenna-Yasek, Lu Tang, Pamela J. Shaw, Adriano Chio, Albert Ludolph, Jochen H. Weishaupt, John E. Landers, Jonathan D. Glass, Jesus S. Mora, Wim Robberecht, Philip Van Damme, Russell McLaughlin, Orla Hardiman, Leonard van den Berg, Jan H. Veldink, Phillippe Corcia, Zorica Stevic, Nailah Siddique, Vincenzo Silani, Ian P. Blair, Dong-sheng Fan, Florence Esselin, Elisa de la Cruz, William Camu, Nazli A. Basak, Teepu Siddique, Timothy Miller, Robert H. Brown, Ammar Al-Chalabi, and Christopher E. Shaw

Subjects
Science
Published
2024
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29. Preventing amyotrophic lateral sclerosis: insights from pre-symptomatic neurodegenerative diseases

Author

Benatar, Michael, Wuu, Joanne, McHutchison, Caroline, Postuma, Ronald B, Boeve, Bradley F, Petersen, Ronald, Ross, Christopher A, Rosen, Howard, Arias, Jalayne J, Fradette, Stephanie, McDermott, Michael P, Shefner, Jeremy, Stanislaw, Christine, Abrahams, Sharon, Cosentino, Stephanie, Andersen, Peter M, Finkel, Richard S, Granit, Volkan, Grignon, Anne-Laure, Rohrer, Jonathan D, McMillan, Corey T, Grossman, Murray, Al-Chalabi, Ammar, Turner, Martin R, Arias, Jalayne, Boeve, Bradley, Dave, Kuldip, Ferguson, Toby, Floeter, Mary-Kay, Rohrer, Jonathan, Gendron, Tania, Gubitz, Amelie, Kaufman, Petra, Le Ber, Isabelle, Lee, Suzee, Malaspina, Andrea, McMillan, Corey, Nicholson, Katie, Postuma, Ronald, Robinson, Richard, Ross, Christopher, Tatton, Nadine, Thakur, Neil, Turner, Martin, and Weishaupt, Jochen

Subjects
Biomedical and Clinical Sciences, Health Sciences, Psychology, Neurodegenerative, Dementia, Genetics, Alzheimer's Disease, Rare Diseases, Aging, Prevention, Brain Disorders, Neurosciences, Clinical Research, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), ALS, Acquired Cognitive Impairment, Biotechnology, Detection, screening and diagnosis, 2.1 Biological and endogenous factors, 4.1 Discovery and preclinical testing of markers and technologies, Aetiology, Neurological, Alzheimer Disease, Amyotrophic Lateral Sclerosis, Asymptomatic Diseases, Frontotemporal Dementia, Humans, Neurodegenerative Diseases, neurodegeneration, amyotrophic lateral sclerosis, pre-symptomatic, disease prevention, First International Pre-Symptomatic ALS Workshop, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery, Biomedical and clinical sciences, Health sciences
Abstract

Significant progress has been made in understanding the pre-symptomatic phase of amyotrophic lateral sclerosis. While much is still unknown, advances in other neurodegenerative diseases offer valuable insights. Indeed, it is increasingly clear that the well-recognized clinical syndromes of Alzheimer's disease, Parkinson's disease, Huntington's disease, spinal muscular atrophy and frontotemporal dementia are also each preceded by a pre-symptomatic or prodromal period of varying duration, during which the underlying disease process unfolds, with associated compensatory changes and loss of inherent system redundancy. Key insights from these diseases highlight opportunities for discovery in amyotrophic lateral sclerosis. The development of biomarkers reflecting amyloid and tau has led to a shift in defining Alzheimer's disease based on inferred underlying histopathology. Parkinson's disease is unique among neurodegenerative diseases in the number and diversity of non-genetic biomarkers of pre-symptomatic disease, most notably REM sleep behaviour disorder. Huntington's disease benefits from an ability to predict the likely timing of clinically manifest disease based on age and CAG-repeat length alongside reliable neuroimaging markers of atrophy. Spinal muscular atrophy clinical trials have highlighted the transformational value of early therapeutic intervention, and studies in frontotemporal dementia illustrate the differential role of biomarkers based on genotype. Similar advances in amyotrophic lateral sclerosis would transform our understanding of key events in pathogenesis, thereby dramatically accelerating progress towards disease prevention. Deciphering the biology of pre-symptomatic amyotrophic lateral sclerosis relies on a clear conceptual framework for defining the earliest stages of disease. Clinically manifest amyotrophic lateral sclerosis may emerge abruptly, especially among those who harbour genetic mutations associated with rapidly progressive amyotrophic lateral sclerosis. However, the disease may also evolve more gradually, revealing a prodromal period of mild motor impairment preceding phenoconversion to clinically manifest disease. Similarly, cognitive and behavioural impairment, when present, may emerge gradually, evolving through a prodromal period of mild cognitive impairment or mild behavioural impairment before progression to amyotrophic lateral sclerosis. Biomarkers are critically important to studying pre-symptomatic amyotrophic lateral sclerosis and essential to efforts to intervene therapeutically before clinically manifest disease emerges. The use of non-genetic biomarkers, however, presents challenges related to counselling, informed consent, communication of results and limited protections afforded by existing legislation. Experiences from pre-symptomatic genetic testing and counselling, and the legal protections against discrimination based on genetic data, may serve as a guide. Building on what we have learned-more broadly from other pre-symptomatic neurodegenerative diseases and specifically from amyotrophic lateral sclerosis gene mutation carriers-we present a road map to early intervention, and perhaps even disease prevention, for all forms of amyotrophic lateral sclerosis.

Published
2022

30. Daily Routine Monitoring Using Deep Learning Models

Author

Salman, Al Jizani Mohammed Kadhim, Al-Chalabi, Humam K. Majeed, Kacprzyk, Janusz, Series Editor, Gomide, Fernando, Advisory Editor, Kaynak, Okyay, Advisory Editor, Liu, Derong, Advisory Editor, Pedrycz, Witold, Advisory Editor, Polycarpou, Marios M., Advisory Editor, Rudas, Imre J., Advisory Editor, Wang, Jun, Advisory Editor, Silhavy, Radek, editor, and Silhavy, Petr, editor

Published
2023
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31. Food Recommendation System Based on Data Clustering Techniques and User Nutrition Records

Author

Al-Chalabi, Hayder Hussein, Jasim, Mahdi Nsaif, Filipe, Joaquim, Editorial Board Member, Ghosh, Ashish, Editorial Board Member, Zhou, Lizhu, Editorial Board Member, Al-Bakry, Abbas M., editor, Al-Mamory, Safaa O., editor, Sahib, Mouayad A., editor, George, Loay E., editor, Aldhaibani, Jaafar A., editor, Hasan, Haitham S., editor, and Oreku, George S., editor

Published
2023
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33. Comparative effectiveness of standard vs. AI-assisted PET/CT reading workflow for pre-treatment lymphoma staging: a multi-institutional reader study evaluation

Author

Russell Frood, Julien M. Y. Willaime, Brad Miles, Greg Chambers, H’ssein Al-Chalabi, Tamir Ali, Natasha Hougham, Naomi Brooks, George Petrides, Matthew Naylor, Daniel Ward, Tom Sulkin, Richard Chaytor, Peter Strouhal, Chirag Patel, and Andrew F. Scarsbrook

Subjects
artificial intelligence, lymphoma, PET/CT, multi-reader study, efficiency, Medical physics. Medical radiology. Nuclear medicine, R895-920
Abstract

BackgroundFluorine-18 fluorodeoxyglucose (FDG)-positron emission tomography/computed tomography (PET/CT) is widely used for staging high-grade lymphoma, with the time to evaluate such studies varying depending on the complexity of the case. Integrating artificial intelligence (AI) within the reporting workflow has the potential to improve quality and efficiency. The aims of the present study were to evaluate the influence of an integrated research prototype segmentation tool implemented within diagnostic PET/CT reading software on the speed and quality of reporting with variable levels of experience, and to assess the effect of the AI-assisted workflow on reader confidence and whether this tool influenced reporting behaviour.MethodsNine blinded reporters (three trainees, three junior consultants and three senior consultants) from three UK centres participated in a two-part reader study. A total of 15 lymphoma staging PET/CT scans were evaluated twice: first, using a standard PET/CT reporting workflow; then, after a 6-week gap, with AI assistance incorporating pre-segmentation of disease sites within the reading software. An even split of PET/CT segmentations with gold standard (GS), false-positive (FP) over-contour or false-negative (FN) under-contour were provided. The read duration was calculated using file logs, while the report quality was independently assessed by two radiologists with >15 years of experience. Confidence in AI assistance and identification of disease was assessed via online questionnaires for each case.ResultsThere was a significant decrease in time between non-AI and AI-assisted reads (median 15.0 vs. 13.3 min, p

Published
2024
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34. A multicentre validation study of the diagnostic value of plasma neurofilament light.

Author

Ashton, Nicholas J, Janelidze, Shorena, Al Khleifat, Ahmad, Leuzy, Antoine, van der Ende, Emma L, Karikari, Thomas K, Benedet, Andrea L, Pascoal, Tharick A, Lleó, Alberto, Parnetti, Lucilla, Galimberti, Daniela, Bonanni, Laura, Pilotto, Andrea, Padovani, Alessandro, Lycke, Jan, Novakova, Lenka, Axelsson, Markus, Velayudhan, Latha, Rabinovici, Gil D, Miller, Bruce, Pariante, Carmine, Nikkheslat, Naghmeh, Resnick, Susan M, Thambisetty, Madhav, Schöll, Michael, Fernández-Eulate, Gorka, Gil-Bea, Francisco J, López de Munain, Adolfo, Al-Chalabi, Ammar, Rosa-Neto, Pedro, Strydom, Andre, Svenningsson, Per, Stomrud, Erik, Santillo, Alexander, Aarsland, Dag, van Swieten, John C, Palmqvist, Sebastian, Zetterberg, Henrik, Blennow, Kaj, Hye, Abdul, and Hansson, Oskar

Subjects
Humans, Neurodegenerative Diseases, Down Syndrome, Neurofilament Proteins, False Positive Reactions, Cohort Studies, Predictive Value of Tests, Depression, Age Factors, Sex Factors, Reference Values, Aged, Middle Aged, Female, Male, Biomarkers, Cognitive Dysfunction
Abstract

Increased cerebrospinal fluid neurofilament light (NfL) is a recognized biomarker for neurodegeneration that can also be assessed in blood. Here, we investigate plasma NfL as a marker of neurodegeneration in 13 neurodegenerative disorders, Down syndrome, depression and cognitively unimpaired controls from two multicenter cohorts: King's College London (n = 805) and the Swedish BioFINDER study (n = 1,464). Plasma NfL was significantly increased in all cortical neurodegenerative disorders, amyotrophic lateral sclerosis and atypical parkinsonian disorders. We demonstrate that plasma NfL is clinically useful in identifying atypical parkinsonian disorders in patients with parkinsonism, dementia in individuals with Down syndrome, dementia among psychiatric disorders, and frontotemporal dementia in patients with cognitive impairment. Data-driven cut-offs highlighted the fundamental importance of age-related clinical cut-offs for disorders with a younger age of onset. Finally, plasma NfL performs best when applied to indicate no underlying neurodegeneration, with low false positives, in all age-related cut-offs.

Published
2021

35. Efficacy and safety of sparsentan versus irbesartan in patients with IgA nephropathy (PROTECT): 2-year results from a randomised, active-controlled, phase 3 trial

Author

Abbasciano, Isabella, Abrantes, Catarina, Accarino, Simone, Adler, Sharon, Adoberg, Annika, Afsari, Rouzbeh, Ahmad, Syeda, Ahmed, Jafar, Ahn, Wooin, Ajayi, Bamidele, Aksamit, Dariusz, Al Chalabi, Saif, Alamartine, Eric, Alchi, Bassam, Ali, Mohammad, Aliotta, Roberta, Almaani, Salem, Almeida, Catarina, Almeida, Edgar, Alvarez, Francisco de la Prada, Alves, Patricia, Annese, Francesca, Appel, Gerald, Arduan, Alberto Ortiz, Arena, Maria, Arevalo, Marta Calvo, Arfaania, Dariush, Arias, Carlos, Aristoy, Emma Calatayud, Asakiene, Egle, Ashley, Sarah, Assefi, Ali, Atenza, Alba, Auerbach, Asta, Augustyniak-Bartosik, Hanna, Avella, Monroy, Ayling-Smith, Jonathan, Ayoub, Isabelle, Ayvazyan, Christine, Baccaro, Rocco, Bailey, Asha, Baker, Bruce, Balamuthusamy, Saravanan, Ballarin, Jose, Barata, Rui, Barbic, Jerko, Barisic, Dunja, Barratt, Jonathan, Barreto, Jose Carlos de Jesus, Barrios, Clara, Belingheri, Mirco, Benesova, Anna, Bernabeu, Ana Avila, Bernhardt, Wanja, Bhadra, Shamik, Biancone, Luigi, Blanchard, Anne, Boaglio, Elena, Bolignano, Davide, Bomback, Andrew, Bonilla, Gustavo Andres Useche, Bordoli, Monica, Bose, Bhadran, Boudville, Neil, Brandon, Donald, Brown, Karen, Broyet, Christian, Bucknall, Thomas, Buffet, Alexandre, Bumblyte', Inga Arune, Burdese, Manuel, Burgos, Natalia Allende, Burguet, Laure, Burtey, Stephane, Busch, Martin, Cakiroglu, Figen, Campbell, Victoria, Canetta, Pietro, Capaccio, Flavia, Carbonell, Juan, Cardoso, Filipa, Carro, Clara Garcia, Carroll, Robert, Carron, Pierre-Louis, Carullo, Nazareno, Cassia, Matthias, Caster, Dawn, Castillo, Belen Vizcaino, Catucci, Davide, Cavalli, Andrea, Chae, Dong-Wan, Chakera, Aron, Chan, Doris, Chan, Gary Chi Wang, Chan, Anthony Ting Pong, Chan, Lai Wan, Chang, Jae Hyun, Chang, Ming-Shan, Chapman, Fiona, Charytan, Chaim, Chaudhry, Asghar, Cheetham, Melissa, Chen, Cheng-Hsu, Chen, Hsin-Yu, Chen, Chien-Liang, Chen, Hung-Yuan, Chen, Hung-Chun, Chenine, Leila, Cheung, Siu Fai, Cheung, Chee Kay, Chiche-Jourde, Noemie, Chiu, Hsien-Fu, Chiu, Yen-Ling, Chiu, Yi-Wen, Chiu, Ian, Choi, Hoon Young, Chou, Kang-Ju, Chowdhury, Paramit, Chowdhury, Pradip, Chrysochou, Constantina, Chukwu, Chukwuma, Chun, Ka Yeong, Chung, Wookyung, Cieniawski, Dominik, Claisse, Guillaume, Clayton, Philip, Cleary, Catalina Martín, Clement, Nisha, Coates, Toby, Cogno, Chiara, Colla, Loredana, Collins, Michael, Colucci, Marco, Combe, Christian, Comi, Nicolino, Comunale, Roderick, Contreras, Gabriel, Cooper, Bruce, Coppock, Gaia, Costa, Ana Cortesão, Costanzi, Stefano, Cozzolino, Mario, Crail, Susan, Cunha, Liliana, Curry, Elizabeth, Dai, Tiane, Daina, Erica, Daneshvari, Sam, Dasgupta, Indranil, DaSilva, Louise, Davidson, Robert, De Bhailis, Aine Maire, de Précigout, Valérie, Decupere, Marc, Delmas, Yahsou, Deodato, Francesca, Dhaun, Neeraj, Dhaygude, Ajay, Dhelaria, Ranjit, Di Maio, Federica, Diezhandino, Maria Angeles Goicoechea, Dika, Zivka, Dinic, Miriana, Dittmer, Ian, Dobre, Mirela, Doctor, Gabriel, Donati, Gabriele, Doubel, Peter, Douthit, Nicole, Draganova, Diliana, Drexler, Yelena, Drinkovic, Martin, Drinovska, Klara, Dudreuilh, Caroline, Dumond, Clement, Durlen, Ivan, Dussol, Bertrand, Encarnacion, Montserrat Diaz, Endre, Zoltan, Enrique, Jorge, Eqbal, Yusuf, Erlich, Jonathan, Esposito, Vittoria, Esposito, Ciro, Fakih, Faisal, Fang, Hua-Chang, Farinha, Ana, Fearday, Aaron, Felgueiras, Joana de Sousa Soares, Felicjanczuk, Elzbieta, Fernandes, João Carlos, Fernandes, Sara, Fernandes, Adriana, Fernandez, Jose Luño, Fernandez, Victor, Fernando, Mangalee, Figueiredo, Ana Carolina, Firre, Eric, Floege, Jürgen, Flossmann, Oliver, Floyd, Lauren, Fonseca, Nuno, Fonseca, Jose Nuno de Almeida Agapito, Foote, Celine, Forbes, Suzanne, Forcen, Angel, Fornoni, Alessia, Fouassier, David, Fraser, Ian, Fung, Ka Shun Samuel, Furlano, Monica, Furtado, Teresa, Gadh, Rajdeep, Gaisset, Roxane, Gallagher, Martin, Gameiro, Joana, Gangadharan, Muralikrishna, Garcia, Fabiola Alonso, Garcia, Olga Gracia, Garg, Gunjan, Garrouste, Cyril, Gautam, Archana, Geara, Abdallah, Geddes, Colin, Gellineo, Lana, Germain, Michael, Gesualdo, Loreto, Ghalli, Farid, Giaroni, Francesco, Giles, Harold, Gillies, Alastair, Gimeno, Ana Vilar, Girardet, Annette, Glaze, Jeffrey, Goh, Tze, Gois, Mario, Goldsmith, Christopher, Goma, Elena, Gomes, Ana Marta, Goncalves, Luis Pedro Falcao, Goncalves, Sara, Gontarek-Kacprzak, Julita, Gonzalez, Carlos, Gopu, Arun, Gowda, Nayan, Gray, Nicholas, Greco, Barbara, Green, Heather, Greze, Clarisse, Griffin, Sian, Guldris, Secundino Cigarran, Guzman, Ursula Verdalles, Ha, Jeffrey Tsun Kit, Hall, Amanda, Hamilton, Patrick, Han, Seung Hyeok, Haws, Robert, Hayat, Ashik, Heath, Lauren, Heinrichs, Sven, Henderson, Andrew, Henderson, Amy, Hendren, Elizabeth, Heng, Anne-Elisabeth, Heres, Salia Virxinia Pol, Herfurth, Johann Konstantin, Herrero, Evangelina Merida, Ho, Tzung-Yo, Hogan, Jonathan, Hohenstein, Bernd, Hollett, Peter, Horvatic, Ivica, Hsu, Bang-Gee, Hsu, Chia-Tien, Hsu, Chih-Yang, Hsu, Shih-Ping, Huang, Chien-Wei, Hudson, Amy, Hung, Chi-Chih, Hwang, Shang-Jyh, Hwang, Daw-Yang, Hyun, Young Youl, Ilmoja, Madis, Irish, Georgina, Jacob, Radu, Jahan, Sadia, Jain, Arunima, Jamar, Sofie, Jander, Anna, Jang, Hye Ryoun, Janko, Catherine, Jardine, Meg, Jaskowski, Piotr, Jeantet, Guillaume, Jelakovic, Bojan, Jeon, Junseok, Jeong, Jong Cheol, Jesudason, Shilpanjali, Jittirat, Arksarapuk, Jo, Sang-Kyung, Jones, Rachel, Joo, Narae, Jorge, Sofia, Julian, Bruce, Jung, JiYong, Jyothinagaram, Praveena, Kadakia, Jigar, Kamal, Fahameedah, Kanigicherla, Durga, Karanovic, Sandra, Karras, Alexandre, Kasimatis, Theodoros, Kassem, Mohamad, Kattamanchi, Siddhartha, Keller, Christopher, Kentric, Dubravka Trajbar, Kettner, Christiane, Khalil, Kassem, Kim, Dana, Kim, Se Joong, Kim, Yeong Hoon, Kim, Yunmi, Kim, Hyung Wook, Kim, Sunggyun, Kim, Jwa-Kyung, Kim, Aejin, Kim, Myung-Gyu, Kimber, Cassandra, Klamm, Kathryn, Koch, Annegret, Koester, Eric, Kolvald, Kulli, Kon, Sui, Kooienga, Laura Ann, Kotwal, Sradha, Krajewska, Magdalena, Kratka, Karolina, Krishnan, Anoushka, Krishnasamy, Rathika, Krueger, Thilo, Kruljac, Ivan, Kulka, Simone, Kunzendorf, Ulrich, Kuo, Mei-Chuan, Kuo, Hung-Tien, Kuo, Sheng, Kwan, Lorraine Pui Yuen, Kwella, Norbert, Kwella, Bogna, Kyaw, Kay, Labat, Aurore, Lafayette, Richard, Lagatta, Mark, Lam, Chi Kwan Darwin, Lambie, Mark, Lanaret, Camille, Latif, Farah, Laute, Margo, Law, Wai Ping, Lawman, Sarah, Lazo, Mercedes Salgueira, Lee, Hajeong, Lee, Moon Hyoung, Lee, Kyu-Beck, Lee, Hyung-seok, Lee, JungEun, Lee, Hyun Hee, Lee, Po-Tsang, Leis, Liisi, Lemahieu, Wim, Leung, Janson, Li, Yan, Lie, Davina Ngoi Wah, Lifland, Howard, Lilienthal, Kadri, Lim, Wai, Limardo, Monica, Livrozet, Marine, Longhi, Selena, Lopes, Daniela, Lopes, Jose Antonio, Lorde, Nathan, Luxton, Grant, Ma, Mingyao, Madhrira, Machaiah, Madonia, Phillip, Maes, Bart, Mahadevan, Kumaradevan, Mahdi, Amar, Mahdi, Eamon, Maillard, Nicolas, Maixnerova, Dita, Majstorovic Barac, Karolina, Malecki, Robert, Malfait, Thomas, Malvica, Silvia, Mandayam, Sreedhar, Manley, Paul, Mansfield, Nick, Marcantoni, Carmelita, Mariat, Christophe, Marin, Tamara Malek, Marin, Lida Maria Rodas, Mark, Patrick, Marques, Joana, Martinez, Eduardo Gutierrez, Martinez, Stacy, Masset, Catherine, Masson, Ingrid, Mather, Amanda, Maung Myint, Thida Maung, Mayet, Valentin, McCafferty, Kieran, McCarthy, Ellen, McDonald, Stephen, McGreal, Kerri, McMahon, Kellyn, McNally, Andrew, McQuarrie, Emily, Medina, Allyson, Meeus, Gert, Mehta, Kshama, Mendoza, Elder, Menezes, Maria, Meng, Jerry, Messa, Piergiorgio, Messias, Ana, Miarka, Przemyslaw, Miglinas, Marius, Mikacic, Ivana, Mikhail, Ashraf, Milicevic, Martina, Minasian, Raffi, Moeller, Marcus, Mohey, Hesham, Mojarrab, Javad, Mok, Maggie Ming Yee, Moncasi, Eduardo Parra, Moonen, Martial, Morales, Wenceslao Adrian Aguilera, Moreno, Eduardo Verde, Moreno, Antolina, Morris, Adam, Moutzouris, Dimitrios, Moya, Mercedes Gonzalez, Mucha, Simon, Musolino, Michela, Napodano, Pietro, Natario, Ana, Negrea, Lavinia, Nelson, Bradley, Neuen, Brendon, Newsome, Britt, Ng, Kit Chung Jack, Nguyen, Thu, Nguyen, Viet, Nicolo, Clementine, Nitschke, Martin, Noble, Euan, Nolasco, Fernando, O'Lone, Emma, Ochoa, Adriana Sierra, Oh, Kook-Hwan, Oh, SeWon, Okoh, Pedro, Ombelet, Sara, O'Shaughnessy, Michelle, Ou, Shih-Hsiang, Packham, David, Padiyar, Aparna, Pai, Mei-Fen, Pamplona, Irene Agraz, Pan, Szu-Yu, Pandya, Bhavna, Papadia, Federica, Pardinhas, Clara, Parikh, Nishita, Parikh, Samir, Park, Hyeong Cheon, Park, Jung Tak, Parreira, Lucia, Passerini, Patrizia, Patak, Ramachandra, Patecki, Margret, Patel, Rajan, Patel, Jusmin, Patel Suthar, Meera, Patella, Gemma, Patrikyan, Artashes, Pavlovic, Drasko, Paxton, William, Peh, Chen, Peleg, Yonatan, Pelicano, Josep Miquel Blasco, Peng, Yu-Sen, Pereira de Vicente, Manuel, Perez, Jonay Pantoja, Perez, Erika, Perez de Jose, Ana, Pérez Gómez, María Vanessa, Perez Lluna, Leticia, Peri, Usha, Perico, Norberto, Philipponnet, Carole, Phua, Elaine, Piel, Julia, Pillai, Unnikrishnan, Pilmore, Helen, Plavljanic, Djuro, Plaza, Mercedes Velo, Pollock, Carol, Ponnusamy, Arvind, Ponti, Serena, Powell, Thomas, Pradhan, Nishigandha, Prado, Raul Fernandez, Prkacin, Ingrid, Pruthi, Rishi, Pugh, Dan, Quinn, Sarah, Quintana, Luis F, Raakesh, Lathika, Rabindranath, Kannaiyan, Radermacher, Luc, Radhakrishnan, Jai, Ragy, Omar Sherin Ibrahim, Raichoudhury, Ritesh, Raimundo, Mario, Randone, Paolo, Razavian, Mona, Reichel, Helmut, Reis, Marina, Remuzzi, Giuseppe, Reynolds, Annie, Ricchiuto, Anna, Rico, Ivon Maritza Bobadilla, Rigothier, Claire, Ritchie, Angus, Rivero, Maria Antonieta Azancot, Rizk, Dana, Ro, Han, Rodriguez, Alfred, Rodriguez Garcia, Eva, Roger, Simon, Rony, Mohammad, Rosenberg, Mai, Roueff, Stephane, Rovin, Brad, Roxburgh, Sarah, Ruiz, Mario, Rusinol, Helena Marco, Rychlik, Ivan, Sá, Helena, Salehi, Tania, Sánchez de la Nieta, Maria Dolores, Sanden, Silja, Santockiene, Lina, Santos, Patricia Valerio, Santos, Iara Da Silva, Sargsyan, Mari, Sarnow, Franziska, Sat, Sebahat, Satora, Ewa, Savuk, Ana, Sayer, Matthew, Schlieper, Georg, Schlosser, Mandy, Schmidt-Guertler, Hans, Schockaert, Olivier, Schulte, Kevin, Schulz, Lisa, Selvaskandan, Haresh, Semple, David, Sen, Shaundeep, Seppet, Elviira, Serrano, Antonio Galan, Serre, Jean-Emmanuel, Sevillano, Angel, Shah, Sapna, Shen, Yvonne, Sheridan, Brittany, Shu, Kai-Hsiang, Sightler, Ford, Silva, Sónia, Silva, Arnold, Sinha, Smeeta, Siriwardana, Amanda, Sitas, Zvonimir, Sivo, Carmen, Sizeland, Peter, Sly, Cathylee, Smith, Priscilla, Snow, Brian, Soares, Elsa Sofia Quadrado, Solazzo, Andrea, Solis, Elena Gutierrez, Solomon, Laurence, Song, Young Rim, Sousa, Helena, Spinowitz, Bruce, Stallworthy, Elizabeth, Stamellou, Eleni, Stanczyk, Malgorzata, Stangenberg, Stefanie, Stankovic, Marija, Stankuviene, Asta, Stea, Emma Diletta, Stompor, Tomasz, Storrar, Joshua, Sullivan, James, Sulowicz, Wladyslaw, Suyumova, Irina, Szeto, Cheuk Chun, Tamarit, Esther, Tan, Eddie, Tan, May, Tang, Sydney Chi Wai, Tang, Hon, Teixeira, Catarina, Telling, Kadri, Terrades, Natalia Ramos, Tesar, Vladimir, Tez, Didem, Thervet, Eric, Thibaudin, Damien, Thomas, Mark, Thyagarajan, Nikhil, Tkaczyk, Marcin, Torreggiani, Massimo, Trillini, Matias, Tsai, Shang-Feng, Tsai, Wan-Chuan, Tsai, Jer-Chia, Tseng, Po-Yu, Tumlin, James, Tung, Kuei-Ting, Turnbull, Angus, Udani, Suneel, Uhlinova, Jana, Unt, Kristin, Urciuolo, Federica, Vanacker, An, Vandewiele, Bert, Vaz, Alvaro, Veermae, Kristi, Viaene, Liesbeth, Vickiene, Alvita, Vigano, Sara, Vila, Maria Antonia Munar, Vilayur, Eswari, Villanueva, Caridad Martinez, Villarroya, Cristina Medrano, Villen, Alejandro Soria, Viramontes, Veronica, Vita, Caterina, Vujcic, Dunja, Wahba, Mona, Wan, Susan, Wang, Chih-Hsien, Warling, Xavier, Waters, Gerald, Waugh, Jane, Weiland, Lea, Weiner, Stefan, Weinreich, Thomas, Werth, Stephan Christian, Wickens, Olivia, Wijeratne, Vidu, Wilder, Karen, Willcocks, Lisa, Williams, Allister, Winiarska, Agata, Wirtz, Nikolaus, Wolf, Lothar, Wolf, Gunter, Wong, Muh Geot, Wong, Yick Hei, Wong, Sze Ho Sunny, Workeneh, Biruh, Wu, Ming-Ju, Wu, Hon-Yen, Wyndham, Roger, Yang, Jihyun, Yang, Ju-Yeh, Yeap, Chii, Yim, Ka Fai, Yong, Kenneth, Yoo, Tae-Hyun, Yoon, Songuk, Yu, Tung-Min, Yue, Tak Tai Andrew, Zakari, Michel, Zakauskiene, Urte, Zaoui, Philippe, Zbrzezniak, Justyna, Zielinska, Dorota, Zizzi, Carlotta Federica, Rovin, Brad H, Heerspink, Hiddo J L, Alpers, Charles E, Bieler, Stewart, Diva, Ulysses A, Inrig, Jula K, Kohan, Donald E, Komers, Radko, Małecki, Robert, Mercer, Alex, Noronha, Irene L, Oh, Se Won, Peh, Chen Au, Praga, Manuel, Preciado, Priscila, Rheault, Michelle N, Rote, William E, Tang, Sydney C W, Trachtman, Howard, Trimarchi, Hernán, Tumlin, James A, and Perkovic, Vlado

Published
2023
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36. Protocol for a double-blind randomised placebo-controlled trial of lithium carbonate in patients with amyotrophic Lateral Sclerosis (LiCALS) [Eudract number: 2008-006891-31]

Author

Kelly Joanna, Thornhill Marie, Murphy Caroline, Morrison Karen E, Young Carolyn A, Shaw Pamela J, Al-Chalabi Ammar, Steen I Nicholas, and Leigh P Nigel

Subjects
Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Background Amyotrophic lateral sclerosis is a rapidly progressive neurodegenerative disorder characterised by loss of motor neurons leading to severe weakness and death from respiratory failure within 3-5 years. Riluzole prolongs survival in ALS. A published report has suggested a dramatic effect of lithium carbonate on survival. 44 patients were studied, with 16 randomly selected to take LiCO3 and riluzole and 28 allocated to take riluzole alone. In the group treated with lithium, no patients had died (i.e., 100% survival) at the end of the study (15 months from entry), compared to 71% surviving in the riluzole-only group. Although the trial can be criticised on several grounds, there is a substantial rationale from other laboratory studies that lithium is worth investigating therapeutically in amyotrophic lateral sclerosis. Methods/Design LiCALS is a multi-centre double-blind randomised parallel group controlled trial of the efficacy, safety, and tolerability of lithium carbonate (LiCO3) at doses to achieve stable 'therapeutic' plasma levels (0.4-0.8 mmol/L), plus standard treatment, versus matched placebo plus standard treatment, in patients with amyotrophic lateral sclerosis. The study will be based in the UK, in partnership with the MND Association and DeNDRoN (the Dementias and Neurodegnerative Diseases Clinical Research Network). 220 patients will be recruited. All patients will be on the standard treatment for ALS of riluzole 100 mg daily. The primary outcome measure will be death from any cause at 18 months defined from the date of randomisation. Secondary outcome measures will be changes in three functional rating scales, the ALS Functional Rating Scale-Revised, The EuroQOL (EQ-5D), and the Hospital Anxiety and Depression Scale. Eligible patients will have El Escorial Possible, Laboratory-supported Probable, Probable or Definite amyotrophic lateral sclerosis with disease duration between 6 months and 36 months (inclusive), vital capacity ≥ 60% of predicted within 1 month prior to randomisation and age at least18 years. Discussion Patient recruitment began in June 2009 and the last patient is expected to complete the trial protocol in November 2011. Trial registration Current controlled trials ISRCTN83178718

Published
2011
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38. Genotyping DNA pools on microarrays: Tackling the QTL problem of large samples and large numbers of SNPs

Author

Plomin Robert, Al-Chalabi Ammar, Hansen Valerie, Fernandes Cathy, Liu Lin, Butcher Lee M, Meaburn Emma, Craig Ian, and Schalkwyk Leonard C

Subjects
Biotechnology, TP248.13-248.65, Genetics, QH426-470
Abstract

Abstract Background Quantitative trait locus (QTL) theory predicts that genetic influence on complex traits involves multiple genes of small effect size. To detect QTL associations of small effect size, large samples and systematic screens of thousands of DNA markers are required. An efficient solution is to genotype case and control DNA pools using SNP microarrays. We demonstrate that this is practical using DNA pools of 100 individuals. Results Using standard microarray protocols for the Affymetrix GeneChip® Mapping 10 K Array Xba 131, we show that relative allele signal (RAS) values provide a quantitative index of allele frequencies in pooled DNA that correlate 0.986 with allele frequencies for 104 SNPs that were genotyped individually for 100 individuals. The sensitivity of the assay was demonstrated empirically in a spiking experiment in which 15% and 20% of one individual's DNA was added to a DNA pool. Conclusion We conclude that this approach, which we call SNP-MaP (SNP microarrays and pooling), is rapid, cost effective and promises to be a valuable initial screening method in the hunt for QTLs.

Published
2005
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39. Sparsentan in patients with IgA nephropathy: a prespecified interim analysis from a randomised, double-blind, active-controlled clinical trial

Author

Alarmartine, Eric, Barratt, Jonathan, Chae, Dong Wan, Del Vecchio, Lucia, Floege, Jurgen, Hwang, Shang-Jyh, Jelakovic, Bojan, Maes, Bart, Malecki, Robert, Miglinas, Marius, Nolasco, Fernando Eduardo Barbosa, Praga, Manual, Rabindranath, Kannaiyan, Rosenberg, Mai, Rovin, Brad, Tang, Sydney Chi Wai, Tesar, Vladmir, Wong, Muh Geot, Bose, Bhadran, Gangadharan, Muralikrishna, McDonald, Stephen, Peh, Chen, Jahan, Sadia, Yeap, Chii, Clayton, Philip, Irish, Georgina, Thyagarajan, Nikhil, Hollett, Peter, Krishnasamy, Rathika, Carroll, Robert, Jesudason, Shilpanjali, Crail, Susan, Coates, Toby, Waugh, Jane, Noble, Euan, Mahadevan, Kumaradevan, Campbell, Victoria, Salehi, Tania, Lim, Wai, Boudville, Neil, Chakera, Aron, Chan, Doris, Krishnan, Anoushka, Eqbal, Yusuf, Gillies, Alastair, Vilayur, Eswari, Maung Myint, Thida Maung, Gray, Nicholas, Cheetham, Melissa, Pollock, Carol, Cooper, Bruce, Mather, Amanda, Roxburgh, Sarah, Shen, Yvonne, Stangenberg, Stefanie, Siriwardana, Amanda, O'Lone, Emma, Wan, Susan, Neuen, Brendon, Tsun Kit Ha, Jeffrey, Kim, Dana, Heath, Lauren, Jain, Arunima, Phua, Elaine, Li, Yan, Gallagher, Martin, Jardine, Meg, Ritchie, Angus, Razavian, Mona, Foote, Celine, Wyndham, Roger, Sen, Shaundeep, Endre, Zoltan, Erlich, Jonathan, Fernando, Mangalee, Yong, Kenneth, Luxton, Grant, Kotwal, Sradha, Roger, Simon, Wijeratne, Vidu, Packham, David, Fraser, Ian, Vandewiele, Bert, Laute, Margo, Lemahieu, Wim, Jamar, Sofie, Ombelet, Sara, Meeus, Gert, Decupere, Marc, Schockaert, Olivier, Doubel, Peter, Viaene, Liesbeth, Radermacher, Luc, Masset, Catherine, Moonen, Martial, Firre, Eric, Milicevic, Martina, Warling, Xavier, Vanacker, An, Malfait, Thomas, Durlen, Ivan, Horvatic, Ivica, Savuk, Ana, Gellineo, Lana, Karanovic, Sandra, Dika, Zivka, Plavljanic, Djuro, Mikacic, Ivana, Trajbar Kentric, Dubravka, Barisic, Dunja, Stankovic, Marija, Majstorovic Barac, Karolina, Kruljac, Ivan, Pavlovic, Drasko, Drinkovic, Martin, Prkacin, Ingrid, Barbic, Jerko, Sitas, Zvonimir, Vujcic, Dunja, Rychlik, Ivan, Benesova, Anna, Drinovska, Klara, Kratka, Karolina, Maixnerova, Dita, Ilmoja, Madis, Unt, Kristin, Lilienthal, Kadri, Auerbach, Asta, Leis, Liisi, Piel, Julia, Adoberg, Annika, Kolvald, Kulli, Veermae, Kristi, Telling, Kadri, Seppet, Elviira, Uhlinova, Jana, Zaoui, Philippe, Carron, Pierre-Louis, Masson, Ingrid, Dinic, Miriana, Thibaudin, Damien, Broyet, Christian, Maillard, Nicolas, Mohey, Hesham, Mariat, Christophe, Claisse, Guillaume, Alamartine, Eric, Dussol, Bertrand, Burtey, Stephane, Chiche-Jourde, Noemie, Serre, Jean-Emmanuel, Jeantet, Guillaume, Chenine, Leila, Blanchard, Anne, Roueff, Stephane, Thervet, Eric, Fouassier, David, Buffet, Alexandre, Livrozet, Marine, Gaisset, Roxane, Karras, Alexandre, Heng, Anne-Elisabeth, Garrouste, Cyril, Philipponnet, Carole, Nicolo, Clementine, Atenza, Alba, Lanaret, Camille, Greze, Clarisse, Mayet, Valentin, Dumond, Clement, Delmas, Yahsou, Combe, Christian, Rigothier, Claire, Burguet, Laure, Labat, Aurore, Mucha, Simon, de Précigout, Valérie, Weinreich, Thomas, Reichel, Helmut, Draganova, Diliana, Wolf, Lothar, Hohenstein, Bernd, Heinrichs, Sven, Kulka, Simone, Sat, Sebahat, Weiland, Lea, Krueger, Thilo, Wolf, Gunter, Kettner, Christiane, Schlosser, Mandy, Herfurth, Johann Konstantin, Koch, Annegret, Busch, Martin, Werth, Stephan Christian, Nitschke, Martin, Cakiroglu, Figen, Sarnow, Franziska, Schulz, Lisa, Weiner, Stefan, Wirtz, Nikolaus, Koester, Eric, Moeller, Marcus, Stamellou, Eleni, Sanden, Silja, Schmidt-Guertler, Hans, Bernhardt, Wanja, Patecki, Margret, Schlieper, Georg, Schulte, Kevin, Girardet, Annette, Kunzendorf, Ulrich, Kwan, Lorraine Pui Yuen, Mok, Maggie Ming Yee, Chan, Gary Chi Wang, Ma, Mingyao, Lie, Davina Ngoi Wah, Chan, Anthony Ting Pong, Szeto, Cheuk Chun, Ng, Kit Chung Jack, Cheung, Siu Fai, Yue, Tak Tai Andrew, Fung, Ka Shun Samuel, Tang, Hon, Yim, Ka Fai, Law, Wai Ping, Wong, Yick Hei, Lam, Chi Kwan Darwin, Wong, Sze Ho Sunny, Marcantoni, Carmelita, Aliotta, Roberta, Deodato, Francesca, Patella, Gemma, Comi, Nicolino, Vita, Caterina, Carullo, Nazareno, Bolignano, Davide, Musolino, Michela, Trillini, Matias, Perico, Norberto, Remuzzi, Giuseppe, Daina, Erica, Biancone, Luigi, Colla, Loredana, Burdese, Manuel, Cogno, Chiara, Boaglio, Elena, Abbasciano, Isabella, Zizzi, Carlotta Federica, Randone, Paolo, Napodano, Pietro, Ricchiuto, Anna, Cassia, Matthias, Accarino, Simone, Cozzolino, Mario, Baccaro, Rocco, Costanzi, Stefano, Di Maio, Federica, Arena, Maria, Urciuolo, Federica, Vigano, Sara, Cavalli, Andrea, Limardo, Monica, Bordoli, Monica, Ponti, Serena, Longhi, Selena, Solazzo, Andrea, Giaroni, Francesco, Donati, Gabriele, Torreggiani, Massimo, Catucci, Davide, Colucci, Marco, Esposito, Vittoria, Esposito, Ciro, Gesualdo, Loreto, Capaccio, Flavia, Diletta Stea, Emma, Sivo, Carmen, Annese, Francesca, Papadia, Federica, Messa, Piergiorgio, Belingheri, Mirco, Passerini, Patrizia, Malvica, Silvia, Vickiene, Alvita, Zakauskiene, Urte, Asakiene, Egle, Bumblyte', Inga Arune, Stankuviene, Asta, Santockiene, Lina, Hayat, Ashik, Williams, Allister, Sizeland, Peter, Tan, Eddie, Waters, Gerald, Chan, Lai Wan, Henderson, Andrew, Turnbull, Angus, McNally, Andrew, Reynolds, Annie, Pilmore, Helen, Dittmer, Ian, Manley, Paul, Stallworthy, Elizabeth, Goh, Tze, Semple, David, Collins, Michael, Curry, Elizabeth, Ahmed, Jafar, Nguyen, Thu, Winiarska, Agata, Zbrzezniak, Justyna, Stompor, Tomasz, Krajewska, Magdalena, Augustyniak-Bartosik, Hanna, Zielinska, Dorota, Jander, Anna, Stanczyk, Malgorzata, Tkaczyk, Marcin, Miarka, Przemyslaw, Aksamit, Dariusz, Jaskowski, Piotr, Sulowicz, Wladyslaw, Cieniawski, Dominik, Gontarek-Kacprzak, Julita, Felicjanczuk, Elzbieta, Kwella, Norbert, Kwella, Bogna, Satora, Ewa, Fernandes, João Carlos, Gomes, Ana Marta, Reis, Marina, Lopes, Daniela, Almeida, Catarina, Sá, Helena, Figueiredo, Ana Carolina, Pardinhas, Clara, Almeida, Edgar, Raimundo, Mario, Cortesão Costa, Ana, Falcao Goncalves, Luis Pedro, Fernandes, Sara, Silva, Sónia, Teixeira, Catarina, Fernandes, Adriana, Nolasco, Fernando, Alves, Patricia, Gois, Mario, Fonseca, Nuno, Messias, Ana, Menezes, Maria, Cardoso, Filipa, Sousa, Helena, Marques, Joana, Barata, Rui, Lopes, Jose Antonio, Jorge, Sofia, Gameiro, Joana, de Almeida Agapito Fonseca, Jose Nuno, Goncalves, Sara, Farinha, Ana, Valerio Santos, Patricia, Natario, Ana, de Jesus Barreto, Jose Carlos, Abrantes, Catarina, Quadrado Soares, Elsa Sofia, Soares Felgueiras, Joana de Sousa, Cunha, Liliana, Parreira, Lucia, Furtado, Teresa, Vaz, Alvaro, Oh, Kook-Hwan, Lee, Hajeong, Joong Kim, Se, Jeong, Jong Cheol, Hoon Kim, Yeong, Kim, Yunmi, Park, Hyeong Cheon, Choi, Hoon Young, Wook Kim, Hyung, Lee, Moon Hyoung, Yoon, Songuk, Lee, Kyu-Beck, Hyun, YoungYoul, Yoo, Tae-Hyun, Han, Seung Hyeok, Park, Jung Tak, Kim, Sunggyun, Song, Young Rim, Kim, Jwa-Kyung, Lee, Hyung-seok, Joo, Narae, Lee, JungEun, Ryoun Jang, Hye, Jeon, Junseok, Chung, Wookyung, Lee, HyunHee, Chang, Jae Hyun, Chun, Ka Yeong, Jung, Ji Yong, Ro, Han, Kim, Aejin, Jo, Sang-Kyung, Yang, Jihyun, Kim, Myung-Gyu, Oh, SeWon, Martinez Villanueva, Caridad, Gimeno, Ana Vilar, Andres Useche Bonilla, Gustavo, Tamarit, Esther, Galan Serrano, Antonio, Verde Moreno, Eduardo, Fernandez, Jose Luño, Goicoechea Diezhandino, Maria Angeles, Verdalles Guzman, Ursula, de Jose, Ana Perez, Ortiz Arduan, Alberto, Pérez Gómez, María Vanessa, Martín Cleary, Catalina, Prado, Raul Fernandez, Goma, Elena, Ballarin, Jose, Encarnacion, Montserrat Diaz, Da Silva Santos, Iara, Marco Rusinol, Helena, Furlano, Monica, Arias, Carlos, Barrios, Clara, Garcia, Eva Rodriguez, Sierra Ochoa, Adriana, Vizcaino Castillo, Belen, Pantoja Perez, Jonay, Gonzalez Moya, Mercedes, Sargsyan, Mari, Calatayud Aristoy, Emma, Bernabeu, Ana Avila, Perez Lluna, Leticia, Malek Marin, Tamara, Antonia Munar Vila, Maria, Bobadilla Rico, Ivon Maritza, Allende Burgos, Natalia, Gutierrez Martinez, Eduardo, Gutierrez Solis, Elena, Sevillano, Angel, Merida Herrero, Evangelina, Miquel Blasco Pelicano, Josep, Rodas Marin, Lida Maria, Quintana, Luis F, Antonieta Azancot Rivero, Maria, Ramos Terrades, Natalia, Garcia Carro, Clara, Agraz Pamplona, Irene, Salgueira Lazo, Mercedes, de la Prada Alvarez, Francisco, Alonso Garcia, Fabiola, Adrian Aguilera Morales, Wenceslao, Virxinia Pol Heres, Salia, Forcen, Angel, Parra Moncasi, Eduardo, Medrano Villarroya, Cristina, Soria Villen, Alejandro, Gracia Garcia, Olga, Velo Plaza, Mercedes, Sánchez de la Nieta, Maria Dolores, Calvo Arevalo, Marta, Moreno, Antolina, Cigarran Guldris, Secundino, de Vicente, Manuel Pereira, Munar Vila, Maria Antonia, Hsu, Bang-Gee, Wang, Chih-Hsien, Chen, Cheng-Hsu, Yu, Tung-Min, Wu, Ming-Ju, Tsai, Shang-Feng, Hsu, Chia-Tien, Chiu, Hsien-Fu, Chou, Kang-Ju, Fang, Hua-Chang, Lee, Po-Tsang, Chen, Hsin-Yu, Chen, Chien-Liang, Huang, Chien-Wei, Ou, Shih-Hsiang, Ho, Tzung-Yo, Hsu, Chih-Yang, Chang, Ming-Shan, Chiu, Yen-Ling, Peng, Yu-Sen, Shu, Kai-Hsiang, Pan, Szu-Yu, Hsu, Shih-Ping, Yang, Ju-Yeh, Pai, Mei-Fen, Tseng, Po-Yu, Wu, Hon-Yen, Tsai, Wan-Chuan, Tung, Kuei-Ting, Chen, Hung-Yuan, Chen, Hung-Chun, Kuo, Mei-Chuan, Hwang, Daw-Yang, Chiu, Yi-Wen, Hung, Chi-Chih, Kuo, Hung-Tien, Tsai, Jer-Chia, McCafferty, Kieran, Forbes, Suzanne, Dasgupta, Indranil, Thomas, Mark, Mahdi, Amar, Ajayi, Bamidele, Chowdhury, Paramit, Kasimatis, Theodoros, Moutzouris, Dimitrios, Dudreuilh, Caroline, Pruthi, Rishi, Mansfield, Nick, Doctor, Gabriel, Shah, Sapna, Kon, Sui, Smith, Priscilla, Hamilton, Patrick, Kanigicherla, Durga, Ibrahim Ragy, Omar Sherin, Alchi, Bassam, Flossmann, Oliver, Ghalli, Farid, Lawman, Sarah, Sinha, Smeeta, Chrysochou, Constantina, Chukwu, Chukwuma, Maire De Bhailis, Aine, Al Chalabi, Saif, Hudson, Amy, Gopu, Arun, Wickens, Olivia, Storrar, Joshua, Wahba, Mona, Lorde, Nathan, Rony, Mohammad, Griffin, Sian, Latif, Farah, Ali, Mohammad, DaSilva, Louise, Ayling-Smith, Jonathan, Mahdi, Eamon, Willcocks, Lisa, Jones, Rachel, Cheung, Chee Kay, Selvaskandan, Haresh, Pugh, Dan, Sayer, Matthew, Dhaun, Neeraj, Chapman, Fiona, Mark, Patrick, Geddes, Colin, McQuarrie, Emily, Patel, Rajan, Solomon, Laurence, Ponnusamy, Arvind, Morris, Adam, Okoh, Pedro, Floyd, Lauren, Dhaygude, Ajay, Leung, Janson, Goldsmith, Christopher, Pandya, Bhavna, Tez, Didem, Mikhail, Ashraf, Brown, Karen, Bucknall, Thomas, Lambie, Mark, Comunale, Roderick, Brandon, Donald, Martinez, Stacy, Hall, Amanda, Henderson, Amy, Fearday, Aaron, Douthit, Nicole, Snow, Brian, Silva, Arnold, Sly, Cathylee, Keller, Christopher, Davidson, Robert, Meng, Jerry, Haws, Robert, Kattamanchi, Siddhartha, Mojarrab, Javad, Pillai, Unnikrishnan, Lafayette, Richard, O'Shaughnessy, Michelle, Kamal, Fahameedah, Mehta, Kshama, Baker, Bruce, Ruiz, Mario, Jyothinagaram, Praveena, Peri, Usha, Paxton, William, Tumlin, James, McGreal, Kerri, McCarthy, Ellen, Kimber, Cassandra, Gautam, Archana, Khalil, Kassem, Nguyen, Viet, Minasian, Raffi, Arfaania, Dariush, Daneshvari, Sam, Zakari, Michel, Patrikyan, Artashes, Afsari, Rouzbeh, Ayvazyan, Christine, Fakih, Faisal, Lagatta, Mark, Rodriguez, Alfred, Avella, Jorge Enrique Monroy, Patak, Ramachandra, Kadakia, Jigar, Radhakrishnan, Jai, Appel, Gerald, Ahn, Wooin, Nelson, Bradley, Medina, Allyson, Ahmad, Syeda, Peleg, Yonatan, Clement, Nisha, Chiu, Ian, Hendren, Elizabeth, Bomback, Andrew, Canetta, Pietro, Spinowitz, Bruce, Charytan, Chaim, Parikh, Nishita, Kuo, Sheng, Raichoudhury, Ritesh, Dobre, Mirela, Negrea, Lavinia, Padiyar, Aparna, Jittirat, Arksarapuk, Pradhan, Nishigandha, Dhelaria, Ranjit, Balamuthusamy, Saravanan, Madhrira, Machaiah, Powell, Thomas, Lifland, Howard, Bailey, Asha, Ford Sightler, Sarah Ashley, Suthar, Meera Patel, Green, Heather, Parikh, Samir, Ayoub, Isabelle, Almaani, Salem, Contreras, Gabriel, Fornoni, Alessia, Drexler, Yelena, Geara, Abdallah, Sheridan, Brittany, Coppock, Gaia, Hogan, Jonathan, Gonzalez, Carlos, Bhadra, Shamik, Chowdhury, Pradip, Kyaw, Kay, Tan, May, Raakesh, Lathika, Mendoza, Elder, Viramontes, Veronica, Chaudhry, Asghar, Carbonell, Juan, Gadh, Rajdeep, Fernandez, Victor, Kassem, Mohamad, Jacob, Radu, Wilder, Karen, Newsome, Britt, Klamm, Kathryn, Suyumova, Irina, Kooienga, Laura Ann, Janko, Catherine, Rizk, Dana, Julian, Bruce, Caster, Dawn, Perez, Erika, Garg, Gunjan, Gowda, Nayan, Udani, Suneel, Mandayam, Sreedhar, Workeneh, Biruh, Assefi, Ali, Greco, Barbara, Germain, Michael, Patel, Jusmin, Quinn, Sarah, Sullivan, James, Glaze, Jeffrey, Madonia, Phillip, McMahon, Kellyn, Giles, Harold, Adler, Sharon, Dai, Tiane, Heerspink, Hiddo J L, Alpers, Charles E, Bieler, Stewart, Diva, Ulysses, Inrig, Jula, Komers, Radko, Mercer, Alex, Noronha, Irene L, Rheault, Michelle N, Rote, William, Trachtman, Howard, Trimarchi, Hernán, and Perkovic, Vlado

Published
2023
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40. The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases

Author

Chen, Zhongbo, Reynolds, Regina H., Pardiñas, Antonio F., Gagliano Taliun, Sarah A., van Rheenen, Wouter, Lin, Kuang, Shatunov, Aleksey, Gustavsson, Emil K., Fogh, Isabella, Jones, Ashley R., Robberecht, Wim, Corcia, Philippe, Chiò, Adriano, Shaw, Pamela J., Morrison, Karen E., Veldink, Jan H., van den Berg, Leonard H., Shaw, Christopher E., Powell, John F., Silani, Vincenzo, Hardy, John A., Houlden, Henry, Owen, Michael J., Turner, Martin R., Ryten, Mina, and Al-Chalabi, Ammar

Published
2023
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41. Lance-Adams Syndrome: Case series and literature review

Author

Judy Zheng, Zachary Storad, Mustafa Al-Chalabi, Khaled Gharaibeh, Sidra Saleem, Ajaz Sheikh, and Naeem Mahfooz

Subjects
Lance-Adams Syndrome, Post-cardiac arrest myoclonus, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

Background: Lance-Adams Syndrome (LAS) is a rare complication of successful cardiopulmonary resuscitation (CPR). It is a form of posthypoxic myoclonus characterized by action or intention myoclonus developing days to months after an hypoxic insult to the brain. LAS, especially early in a patient’s clinical course, can be challenging to diagnose. Electroencephalogram (EEG) pattern of midline spike-wave discharge associated with favorable prognosis. There is no consensus in treatment of LAS but use of various anti-epileptic medications has been documented in literature. Case Presentation: In this case series, all of the patients presented after achieving return of spontaneous circulation (ROSC) and subsequently developed myoclonus. EEG findings beyond the initial hospitalization continued to show later showed changes consistent with LAS in three of the four patients. Different combinations of AEDs were used in the management of LAS with variable success and adverse effects. Conclusion: Our cases highlight that the characteristic EEG pattern can be useful in the diagnosis of LAS and allow for better prognostication and management in patients with posthypoxic myoclonus. We reviewed the available literature to better understand the prevalence, mechanism, clinical presentation, diagnosis, and management of LAS.

Published
2023
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42. Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis

Author

Tazelaar, Gijs H.P., Hop, Paul J., Seelen, Meinie, van Vugt, Joke J.F.A., van Rheenen, Wouter, Kool, Lindy, van Eijk, Kristel R., Gijzen, Marleen, Dooijes, Dennis, Moisse, Matthieu, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Nordin, Angelica, Pardina, Jesus S. Mora, Ravits, John, Al-Chalabi, Ammar, Chio, Adriano, McLaughlin, Russell L., Hardiman, Orla, Van Damme, Philip, de Carvalho, Mamede, Neuwirth, Christoph, Weber, Markus, Andersen, Peter M, van den Berg, Leonard H., Veldink, Jan H., and van Es, Michael A.

Published
2023
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43. Aerodynamic Mitigation of Low-Rise Building Roofs

Author

Al-Chalabi, Raghdah, Elshaer, Ahmed, di Prisco, Marco, Series Editor, Chen, Sheng-Hong, Series Editor, Vayas, Ioannis, Series Editor, Kumar Shukla, Sanjay, Series Editor, Sharma, Anuj, Series Editor, Kumar, Nagesh, Series Editor, Wang, Chien Ming, Series Editor, Walbridge, Scott, editor, Nik-Bakht, Mazdak, editor, Ng, Kelvin Tsun Wai, editor, Shome, Manas, editor, Alam, M. Shahria, editor, el Damatty, Ashraf, editor, and Lovegrove, Gordon, editor

Published
2022
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45. Molecular dynamics analysis of superoxide dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression

Author

Kalia, Munishikha, Miotto, Mattia, Ness, Deborah, Opie-Martin, Sarah, Spargo, Thomas P., Di Rienzo, Lorenzo, Biagini, Tommaso, Petrizzelli, Francesco, Al Khleifat, Ahmad, Kabiljo, Renata, Mazza, Tommaso, Ruocco, Giancarlo, Milanetti, Edoardo, Dobson, Richard JB, Al-Chalabi, Ammar, and Iacoangeli, Alfredo

Published
2023
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47. Pharmacometabolomics applied to low‐dose interleukin‐2 treatment in amyotrophic lateral sclerosis

Author

Alarcan, Hugo, primary, Bruno, Clément, additional, Emond, Patrick, additional, Raoul, Cédric, additional, Vourc'h, Patrick, additional, Corcia, Philippe, additional, Camu, William, additional, Veyrune, Jean‐Luc, additional, Garlanda, Cecilia, additional, Locati, Massimo, additional, Juntas‐Morales, Raúl, additional, Saker, Safaa, additional, Suehs, Carey, additional, Masseguin, Christophe, additional, Kirby, Janine, additional, Shaw, Pamela, additional, Malaspina, Andrea, additional, De Vos, John, additional, Al‐Chalabi, Ammar, additional, Leigh, P. Nigel, additional, Tree, Timothy, additional, Bensimon, Gilbert, additional, and Blasco, Hélène, additional

Published
2024
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50. Acceptance and Commitment Therapy plus usual care for improving quality of life in people with motor neuron disease (COMMEND): a multicentre, parallel, randomised controlled trial in the UK

Author

Gould, Rebecca L, primary, McDermott, Christopher J, additional, Thompson, Benjamin J, additional, Rawlinson, Charlotte V, additional, Bursnall, Matt, additional, Bradburn, Mike, additional, Kumar, Pavithra, additional, Turton, Emily J, additional, White, David A, additional, Serfaty, Marc A, additional, Graham, Christopher D, additional, McCracken, Lance M, additional, Goldstein, Laura H, additional, Al-Chalabi, Ammar, additional, Orrell, Richard W, additional, Williams, Tim, additional, Noad, Rupert, additional, Baker, Idris, additional, Faull, Christina, additional, Lambert, Thomas, additional, Chhetri, Suresh K, additional, Ealing, John, additional, Hanratty, Anthony, additional, Radunovic, Aleksandar, additional, Gunawardana, Nushan, additional, Meadows, Gail, additional, Gorrie, George H, additional, Young, Tracey, additional, Lawrence, Vanessa, additional, Cooper, Cindy, additional, Shaw, Pamela J, additional, Howard, Robert J, additional, Andreou, Penny, additional, Androulaki-Korakaki, Dynameni, additional, Blakeley, Claire, additional, Bridges, Gary, additional, Campbell, Iain, additional, Davenport, Brittany, additional, Dee, Annily, additional, Drewry, Nicola, additional, Flood, John, additional, Fox, Annemieke, additional, Girling, Melissa, additional, Glew, Ruth, additional, Hartley, Nick, additional, Hocking, Sian, additional, Howell, Mark, additional, Keetharuth, Anju, additional, Makin, Selina, additional, Marsh, Jessica, additional, Mayberry, Emily, additional, McDonald, Alexa, additional, McPartland, Roy, additional, Meldrum, Steven, additional, Mobley, Amanda, additional, Murphy, Donnchadh, additional, O'Brien, Marie Claire, additional, Oliver, Mark, additional, Patel, Darshna, additional, Phipps, Emma, additional, Read, Jessica, additional, Roberts, Rhys, additional, Rooney, Natasha, additional, Smith, Carla, additional, Statham, Jo, additional, Thompson, Cara, additional, Varma, Priya, additional, Walker, Anne Marie, additional, and Waterhouse, Simon, additional

Published
2024
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