Article
Genetics & Heredity
Bryony Braschi, Ruth L. Seal, Susan Tweedie, Tamsin E. M. Jones, Elspeth A. Bruford
Summary: Using approved nomenclature is crucial for effective scientific communication, especially in discussing clinically relevant genes. Failure to use HGNC-approved symbols in publications can lead to confusion between unrelated human genes in the literature. Authors can take steps to ensure they use approved nomenclature and referencing HGNC IDs can help remove ambiguity when referring to genes previously published with confusing alias symbols.
AMERICAN JOURNAL OF HUMAN GENETICS
(2021)
Review
Pharmacology & Pharmacy
Julie Durand, Jean-Michel Dogne, Catherine Cohet, Kate Browne, Maria Gordillo-Maranon, Loris Piccolo, Cosimo Zaccaria, Georgy Genov
Summary: Prior to the deployment of COVID-19 vaccines in the European Union, the European Medicines Agency (EMA) implemented activities to enhance vaccine safety monitoring and commissioned observational studies. The EMA successfully identified and minimized the risks of thrombosis with thrombocytopenia syndrome (TTS) and myocarditis/pericarditis associated with the vaccines, thanks to close surveillance and the use of available evidence. The COVID-19 pandemic has led to the development of tools and methods for handling the large volume of safety data generated by the vaccines.
CLINICAL PHARMACOLOGY & THERAPEUTICS
(2023)
Article
Clinical Neurology
Narong Simakajornboon, Emmanuel Mignot, Kiran Maski, Judith Owens, Carol Rosen, Sally Ibrahim, Fauziya Hassan, Ronald D. Chervin, Gayln Perry, Lee Brooks, Leila Kheirandish-Gozal, David Gozal, Thornton Mason, Althea Robinson, Beth Malow, Kamal Naqvi, Maida L. Chen, Supriya Jambhekar, Ann Halbower, Katharina Graw-Panzer, Ehab Dayyat, Jenny Lew, Cecilia Melendres, Suresh Kotagal, Sejal Jain, Elizabeth Super, Thomas Dye, Md Monir Hossain, Dawit Tadesse
Summary: This study aimed to evaluate the incidence of pediatric narcolepsy before and after the H1N1 pandemic, and found a significant increase in narcolepsy incidence in the United States after the 2009 H1N1 pandemic. The study also demonstrated a temporal correlation between H1N1 infection and narcolepsy incidence.
Article
Clinical Neurology
Kosuke Tanioka, Toshiyuki Hirasawa, Mariko Yanagihara, Noboru Takeuchi, Hideaki Nakayama, Akira Usui, Yuichi Inoue
Summary: The study aimed to validate the Japanese versions of the Ullanlinna Narcolepsy Scale (J-UNS) and Swiss Narcolepsy Scale (J-SNS) for screening narcolepsy in the Japanese population. The results showed that both scales had high reliability and validity in diagnosing narcolepsy in patients with excessive daytime sleepiness. It was suggested to use a cut-off score of 18 for J-UNS in the population with excessive daytime sleepiness.
Letter
Medicine, General & Internal
Sigal Kaplan, Debra L. Braverman, Ilana Frishman, Netta Bartov
Summary: This cohort study uses data from the US Provigil/Nuvigil Pregnancy Registry to evaluate the prevalence of fetal major congenital malformations after exposure to modafinil and armodafinil during pregnancy.
JAMA INTERNAL MEDICINE
(2021)
Article
Clinical Neurology
Maria Jose Abenza-Abildua, Eugenio Suarez-Gisbert, Vanesa Lores-Gutierrez, Carmen Algarra-Lucas, Angeles Gomez-Acena, Francisco Jose Navacerrada-Barrero, Laura Gonzalez-Martin, Ana Perez-Villena, Carlos Perez-Lopez
Summary: We conducted a study on the co-existence of psychopathology in patients with narcolepsy and found a high prevalence of anxiety and depression, especially in younger patients. The presence of psychopathology often precedes the diagnosis of narcolepsy, suggesting a possible biological link between both disorders. Larger studies are needed to further investigate this relationship.
JOURNAL OF SLEEP RESEARCH
(2023)
Article
Clinical Neurology
Lucie Barateau, Michel Lecendreux, Sofiene Chenini, Anna Laura Rassu, Regis Lopez, Carole Pesenti, Isabelle Jaussent, Severine Beziat, Yves Dauvilliers
Summary: The study validated the Narcolepsy Severity Scale (NSS) in adults with narcolepsy type 1 (NT1) and developed the Pediatric NSS (NSS-P). Through a survey of 209 children and adolescents, it was found that NSS-P has good psychometric properties and reliability in pediatric NT1 patients.
Article
Clinical Neurology
Leon Rosenthal, Michael J. Thorpy, Sona Nevsimalova, Geert Mayer, Fang Han, Yves Dauvilliers
Summary: The study surveyed practitioners from 37 countries on the diagnosis and management of narcolepsy, revealing regional differences in the availability and use of diagnostic tests and medications. Most participants were from Europe, North America, Oceania, Asia, and Latin America. The results highlight challenges faced by physicians worldwide in managing narcolepsy, including limited availability of diagnostic tests like CSF hypocretin-1 and variations in access to recommended medications.
Article
Cell Biology
David Frieser, Aurora Pignata, Leila Khajavi, Danielle Shlesinger, Carmen Gonzalez-Fierro, Xuan-Hung Nguyen, Alexander Yermanos, Doron Merkler, Romana Hoftberger, Virginie Desestret, Katharina M. Mair, Jan Bauer, Frederick Masson, Roland S. Liblau
Summary: This study reveals the important role of tissue-resident memory T cells, particularly pathogenic CD8(+) T cells, in chronic autoimmune diseases of the central nervous system. These cells are crucial for sustaining chronic inflammation and progressive loss of neurons, and they exhibit phenotypic and functional heterogeneity. The presence and functional output of tissue-resident CD8(+) T cells depend critically on CD4(+) T cells. Therefore, therapies targeting this compartmentalized autoreactive T cell subset may be effective for treating CNS autoimmune diseases.
SCIENCE TRANSLATIONAL MEDICINE
(2022)
Article
Multidisciplinary Sciences
Sadie Bell, Richard M. Clarke, Sharif A. Ismail, Oyinkansola Ojo-Aromokudu, Habib Naqvi, Yvonne Coghill, Helen Donovan, Louise Letley, Pauline Paterson, Sandra Mounier-Jack
Summary: This study used a mixed-methods approach to investigate the beliefs, attitudes, and behaviors of health and social care workers in the UK towards COVID-19 vaccination. The findings highlighted the impact of workplace factors, the experiences of Black African participants, and individual perceptions of employer pressure on vaccination uptake.
Review
Immunology
Roland S. Liblau, Daniela Latorre, Birgitte R. Kornum, Yves Dauvilliers, Emmanuel J. Mignot
Summary: Narcolepsy type 1 (NT1) is a chronic sleep disorder caused by the loss of certain hypothalamic neurons. It is suspected to have an immune-mediated basis, supported by genetic evidence and increased incidence after vaccination. The search for antigens recognized by pathogenic T cell response in NT1 is ongoing, and animal models provide insights into the roles of autoreactive T cells.
NATURE REVIEWS IMMUNOLOGY
(2023)
Article
Chemistry, Medicinal
Uta Lessel, Marco Ferrara, Niklas Heine, Chiara Marelli, Laura Carrettoni, Roland Pfau, Esther Schmidt, Doris Riether
Summary: The study presents a structure-based design approach to develop highly selective OX1 receptor antagonists by analyzing the binding structures of dual OX1/OX2 and OX1 receptors. The modified core with higher inherent selectivity compared to the [2.2.1]-bicyclic template was successfully designed, providing a promising therapeutic option for treating various mental disorders.
JOURNAL OF CHEMICAL INFORMATION AND MODELING
(2021)
Article
Clinical Neurology
Maurice M. Ohayon, Michael J. Thorpy, Ginger Carls, Jed Black, Miriam Cisternas, David J. Pasta, Shay Bujanover, Danielle Hyman, Kathleen F. Villa
Summary: The Nexus Narcolepsy Registry data suggest that narcolepsy symptoms often start in childhood or adolescence. The diagnostic process for many individuals is lengthy, involving multiple physicians and frequent misdiagnosis.
Article
Biology
Dong Yeon Son, Hyun Bin Kwon, Dong Seok Lee, Hyung Won Jin, Jong Hyeok Jeong, Jeehoon Kim, Sang Ho Choi, Heenam Yoon, Mi Hyun Lee, Yu Jin Lee, Kwang Suk Park
Summary: This study aimed to establish new biomarkers for narcolepsy by analyzing the network connectivity of biosignals during nocturnal sleep. The results showed that during rapid eye movement sleep, narcolepsy patients displayed more connections compared to healthy controls, with potential for these connectivity differences to be used as biomarkers. The classifier based on these differences had a high sensitivity, specificity, and accuracy, indicating the potential of network connectivity as a biomarker for identifying differences between narcolepsy patients and healthy controls.
COMPUTERS IN BIOLOGY AND MEDICINE
(2021)
Article
Multidisciplinary Sciences
Guo Luo, Jing Zhang, Ling Lin, Emmanuel Jean-Marie Mignot
Summary: This study replicated the data from 77 cases and 44 controls and further investigated the reactivity of CD4+ T cells associated with HCRT. The results showed lower activation of TCRs associated with HCRTNH2 compared to flu antigens, and no significant phenotypic differences were found between the two types of T cells. In addition, the analysis of TCRs did not find evidence of molecular mimicry between HCRT and flu antigens.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
