Results 71 to 80 of about 317,820 (317)

Well‐being on supportive techniques in amyotrophic lateral sclerosis: from neurologists' perspective

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1874-1883, December 2022., 2022
Abstract Objective To investigate intercultural neurologists' perception of well‐being in patients with amyotrophic lateral sclerosis (ALS) using gastrostomy (PEG), non‐invasive, and/or invasive ventilation (NIV/IV) and to analyse the determinants and impact on the management of the above medical interventions (MIs).
Krzysztof Barć, Dorothée Lulé, Julia Finsel, Olga Helczyk, Susanne Baader, Helena Aho‐Özhan, Albert C. Ludolph, Magdalena Kuźma‐Kozakiewicz   +7 more
wiley   +1 more source

Phenotypic continuum of NFU1‐related disorders

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2025-2035, December 2022., 2022
Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra‐rare bi‐allelic NFU1 missense variants associated with a
Rauan Kaiyrzhanov, Maha S. Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Geneviève Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M. Khalaf, Mohamed S. Abdel‐Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M. Elbendary, Garry Brown, Robert W. Taylor, Hamid Galehdari, Joseph J. Gleeson, Christopher J. Carroll, James A. Cowan, Andres Moreno‐De‐Luca, Henry Houlden, Reza Maroofian   +45 more
wiley   +1 more source

A potential biomarker of cognitive impairment: The olfactory dysfunction and its genes expression

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1884-1897, December 2022., 2022
Abstract Objective Accumulation evidence has reported that olfactory impairment may be an essential clinical marker and predictor of mild cognitive impairment or Alzheimer's disease. Method Participants were enrolled in the population‐based, prospective study in Fuxin county, Liaoning province, China between 2019 and 2021.
Jiayi Song, Jiahui Xu, Wei Yuan, Ruixue Li, Hui Guo, Hanshu Gao, Cuiying Gu, Wenjing Feng, Yanan Ma, Haiqiang Guo, Zhaoqing Sun, Liqiang Zheng   +11 more
wiley   +1 more source

The immunological interface: dendritic cells as key regulators in metabolic dysfunction‐associated steatotic liver disease

FEBS Letters, EarlyView.
Metabolic dysfunction‐associated steatotic liver disease (MASLD) affects nearly one‐third of the global population and poses a significant risk of progression to cirrhosis or liver cancer. Here, we discuss the roles of hepatic dendritic cell subtypes in MASLD, highlighting their distinct contributions to disease initiation and progression, and their ...
Camilla Klaimi, WanTing Kong, Camille Blériot, Joel T. Haas   +3 more
wiley   +1 more source

Clinical utility of cerebrospinal fluid biomarkers measured by LUMIPULSE® system

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1898-1909, December 2022., 2022
Abstract Objectives Cerebrospinal fluid (CSF) biomarkers of Alzheimer's disease (AD) are well‐established in research settings, but their use in routine clinical practice remains a largely unexploited potential. Here, we examined the relationship between CSF biomarkers, measured by a fully automated immunoassay platform, and brain β‐amyloid (Aβ ...
Hisashi Nojima, Satoshi Ito, Akira Kushida, Aki Abe, Wataru Motsuchi, David Verbel, Manu Vandijck, Geert Jannes, Ina Vandenbroucke, Katsumi Aoyagi   +9 more
wiley   +1 more source

Insights into the renal pathophysiology in Hermansky‐Pudlak syndrome‐1 from urinary extracellular vesicle proteomics and a new mouse model

FEBS Letters, EarlyView.
Hermansky‐Pudlak syndrome type 1 (HPS‐1) is a rare, autosomal recessive disorder with poorly understood renal involvement. Urinary extracellular vesicle (uEV) proteomics and a novel Hps1 mouse model reveal mitochondrial abnormalities and lipid accumulation in HPS‐1 kidney proximal tubule cells. Serum ApoA1 correlates with kidney function in our patient
Dawn M. Maynard, Bernadette R. Gochuico, Hadass Pri Chen, Christopher K. E. Bleck, Patricia M. Zerfas, Wendy J. Introne, William A. Gahl, May C. V. Malicdan   +7 more
wiley   +1 more source

Vascular endothelial‐cadherin as a marker of endothelial injury in preclinical Alzheimer disease

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1926-1940, December 2022., 2022
Abstract Objective Endothelial dysfunction is an early and prevalent pathology in Alzheimer disease (AD). We here investigate the value of vascular endothelial‐cadherin (VEC) as a cerebrospinal fluid (CSF) marker of endothelial injury in preclinical AD.
Rawan Tarawneh, Rachel S. Kasper, Jessie Sanford, Chia‐Ling Phuah, Jason Hassenstab, Carlos Cruchaga   +5 more
wiley   +1 more source

Rate of Fixation of Rare Variants in a Population

bioRxiv, 2017
The process of molecular evolution has been dominated by the Kimura paradigm for nearly 60 years; mutations arise at a certain rate in the population and they go to fixation with a probability given by Kimura’s classic formula, which assumes there are no
Bhavin S. Khatri
semanticscholar   +1 more source

A comparative study of circulating tumor cell isolation and enumeration technologies in lung cancer

Molecular Oncology, EarlyView.
Lung cancer cells were spiked into donor blood to evaluate the recovery rates of the following circulating tumor cell (CTC) enrichment technologies: CellMag™, EasySep™, RosetteSep™, Parsortix® PR1, and Parsortix® Prototype systems. Each method's advantages and disadvantages are described.
Volga M Saini, Ezgi Oner, Mark P. Ward, Sinead Hurley, Brian David Henderson, Faye Lewis, Stephen P. Finn, Gerard J. Fitzmaurice, John J. O'Leary, Sharon O'Toole, Lorraine O'Driscoll, Kathy Gately   +11 more
wiley   +1 more source

Harmonizing results of ataxia rating scales: mFARS, SARA, and ICARS

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2041-2046, December 2022., 2022
Abstract The ever‐increasing body of ataxia research provides opportunities for large‐scale meta‐analyses, systematic reviews, and data aggregation. Because multiple standardized scales are used to quantify ataxia severity, harmonization of these measures is necessary for quantitative data pooling. We applied the modified Friedreich Ataxia Rating Scale
Christian Rummey, Ian H. Harding, Martin B. Delatycki, Geneieve Tai, Thiago Rezende, Louise A. Corben   +5 more
wiley   +1 more source