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1. Self-Reported Compliance With Personal Preventive Measures Among Chinese Factory Workers at the Beginning of Work Resumption Following the COVID-19 Outbreak: Cross-Sectional Survey Study

Author

Pan, Yihang, Fang, Yuan, Xin, Meiqi, Dong, Willa, Zhou, Liemin, Hou, Qinghua, Li, Fanping, Sun, Gang, Zheng, Zilong, Yuan, Jinqiu, Wang, Zixin, and He, Yulong

Subjects
Computer applications to medicine. Medical informatics, R858-859.7, Public aspects of medicine, RA1-1270
Abstract

BackgroundMaintaining compliance with personal preventive measures is important to achieve a balance of COVID-19 pandemic control and work resumption. ObjectiveThe aim of this study was to investigate self-reported compliance with four personal measures to prevent COVID-19 among a sample of factory workers in Shenzhen, China, at the beginning of work resumption in China following the COVID-19 outbreak. These preventive measures included consistent wearing of face masks in public spaces (the workplace and other public settings); sanitizing hands using soap, liquid soap, or alcohol-based hand sanitizer after returning from public spaces or touching public installations and equipment; avoiding social and meal gatherings; and avoiding crowded places. MethodsThe participants were adult factory workers who had resumed work in Shenzhen, China. A stratified two-stage cluster sampling design was used. We randomly selected 14 factories that had resumed work. All full-time employees aged ≥18 years who had resumed work in these factories were invited to complete a web-based survey. Out of 4158 workers who had resumed work in these factories, 3035 (73.0%) completed the web-based survey from March 1 to 14, 2020. Multilevel logistic regression models were fitted. ResultsAmong the 3035 participants, 2938 (96.8%) and 2996 (98.7%) reported always wearing a face mask in the workplace and in other public settings, respectively, in the past month. However, frequencies of self-reported sanitizing hands (2152/3035, 70.9%), avoiding social and meal gatherings (2225/3035, 73.3%), and avoiding crowded places (1997/3035, 65.8%) were relatively low. At the individual level, knowledge about COVID-19 (adjusted odds ratios [AORs] from 1.16, CI 1.10-1.24, to 1.29, CI 1.21-1.37), perceived risk (AORs from 0.58, CI 0.50-0.68, to 0.85, CI 0.72-0.99) and severity (AOR 1.05, CI 1.01-1.09, and AOR 1.07, CI 1.03-1.11) of COVID-19, perceived effectiveness of preventive measures by the individual (AORs from 1.05, CI 1.00-1.10, to 1.09, CI 1.04-1.13), organization (AOR 1.30, CI 1.20-1.41), and government (AORs from 1.14, CI 1.04-1.25, to 1.21, CI 1.02-1.42), perceived preparedness for a potential outbreak after work resumption (AORs from 1.10, CI 1.00-1.21, to 1.50, CI 1.36-1.64), and depressive symptoms (AORs from 0.93, CI 0.91-0.94, to 0.96, CI 0.92-0.99) were associated with self-reported compliance with at least one personal preventive measure. At the interpersonal level, exposure to COVID-19–specific information through official media channels (AOR 1.08, CI 1.04-1.11) and face-to-face communication (AOR 0.90, CI 0.83-0.98) were associated with self-reported sanitizing of hands. The number of preventive measures implemented in the workplace was positively associated with self-reported compliance with all four preventive measures (AORs from 1.30, CI 1.08-1.57, to 1.63, CI 1.45-1.84). ConclusionsMeasures are needed to strengthen hand hygiene and physical distancing among factory workers to reduce transmission following work resumption. Future programs in workplaces should address these factors at multiple levels.

Published
2020
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4. Pathophysiology characterization of Alzheimer’s disease in South China’s aging population: for the Greater-Bay-Area Healthy Aging Brain Study (GHABS)

Author

Liu, Zhen, Shi, Dai, Cai, Yue, Li, Anqi, Lan, Guoyu, Sun, Pan, Liu, Lin, Zhu, Yalin, Yang, Jie, Zhou, Yajing, Guo, Lizhi, Zhang, Laihong, Deng, Shuqing, Chen, Shuda, Yu, Xianfeng, Chen, Xuhui, Zhao, Ruiyue, Wang, Qingyong, Ran, Pengcheng, Xu, Linsen, Zhou, Liemin, Sun, Kun, Wang, Xinlu, Peng, Qiyu, Han, Ying, and Guo, Tengfei

Published
2024
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13. Pathophysiology characterization and early detection of Alzheimer’s disease in South China’s Aging Population: for the Greater-Bay- Area Healthy Aging Brain Study (GHABS)

Author

Liu, Zhen, primary, Cai, Yue, additional, Li, Anqi, additional, Lan, Guoyu, additional, Sun, Pan, additional, Liu, Lin, additional, Zhu, Yalin, additional, Yang, Jie, additional, Zhou, Yajing, additional, Guo, Lizhi, additional, Zhang, Laihong, additional, Deng, Shuqing, additional, Shi, Dai, additional, Chen, Shuda, additional, Yu, Xianfeng, additional, Chen, Xuhui, additional, Zhao, Ruiyue, additional, Wang, Qingyong, additional, Ran, Pengcheng, additional, Xu, Linsen, additional, Zhou, Liemin, additional, Sun, Kun, additional, Wang, Xinlu, additional, Peng, Qiyu, additional, Han, Ying, additional, and Guo, Tengfei, additional

Published
2023
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19. Scalp Ripple Rates for Rapid Epilepsy Differentiation and Seizure Activity Assessment: Applicability and Influential Factors

Author

Liu, Xianyue, primary, Li, Yinchao, additional, Li, Xiaonan, additional, Chen, Shuda, additional, Sui, Lisen, additional, Su, Zhengwei, additional, Cheng, Liming, additional, Zhao, Ke, additional, Yang, Man, additional, Lai, Huanling, additional, Xing, Yue, additional, Gui, Yue, additional, Wang, Jiaoyang, additional, Yang, Xiaofeng, additional, and Zhou, Liemin, additional

Published
2023
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30. Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry

Author

Marques, Ruben, Belousoye, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D'Amato, Lisa, d'Augeres, Guillaume Beaure, de Vries, Petrus J., Ferreira, Jose C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Kingswood, John C., Jansen, Anna C., Shinohara, Nobuo, LIorie, Shigeo, Kubota, Masaya, Tohyama, Jun, Imai, Katsumi, Kaneda, Mari, Kaneko, Hideo, Uchida, Yasushi, Kirino, Tomoko, Endo, Shoichi, Inoue, Yoshikazu, Uruno, Katsuhisa, Serdaroglu, Ayse, Yapici, Zuhal, Anlar, Banu, Altunbasak, Sakir, Lvova, Olga, Belyaev, Oleg Valeryevich, Agranovich, Oleg, Levitina, Elena Vladislavovna, Maksimova, Yulia Vladimirovna, Karas, Antonina, Jiang, Yuwu, Zou, Liping, Xu, Kaifeng, Zhang, Yushi, Luan, Guoming, Zhang, Yuqin, Wang, Yi, Jin, Meiling, Ye, Dingwei, Liao, Weiping, Zhou, Liemin, Liu, Jie, Liao, Jianxiang, Yan, Bo, Deng, Yanchun, Jiang, Li, Liu, Zhisheng, Huang, Shaoping, Li, Hua, Kim, Kijoong, Chen, Pei-Lung, Lee, Hsiu-Fen, Tsai, Jeng-Dau, Chi, Ching-Shiang, Huang, Chao-Ching, Riney, Australia Kate, Yates, Deborah, Kwan, Patrick, Likasitwattanakul, Surachai, Nabangchang, Charcrin, Chomtho, Lunliya Thampratankul Krisnachai, Katanyuwong, Kamornwan, Sriudomkajorn, Somjit, Wilmshurst, Jo, Segel, Reeval, Gilboa, Tal, Tzadok, Michal, Fattal-Valevski, Aviva, Papathanasopoulos, Panagiotis, Papavasiliou, Antigone Syrigou, Giannakodimos, Stylianos, Gatzonis, Stylianos, Pavlou, Evangelos, Tzoufi, Meropi, Vergeer, A. M. M., Dhooghe, Marc, Verhelst, Helene, Roelens, Filip, Nassogne, Marie Cecile, Defresne, Pierre, De Waele, Liesbeth, Leroy, Patricia, Demonceau, Nathalie, Legros, Benjamin, Van Bogaert, Patrick, Ceulemans, Berten, Dom, Lina, Castelnau, Pierre, Martin, Anne De Saint, Riquet, Audrey, Milh, Mathieu, Cances, Claude, Pedespan, Jean-Michel, Ville, Dorothee, Roubertie, Agathe, Auvin, Stephane, Berquin, Patrick, Richelme, Christian, Allaire, Catherine, Gueden, Sophie, Tich, Sylvie Nguyen The, Godet, Bertrand, Falco Rojas, Maria Luz Ruiz, Campistol Planas, Jaume, Martinez Bermejo, Antonio, Smeyers Dura, Patricia, Roldan Aparicio, Susana, Martinez Gonzalez, Maria Jesus, Lopez Pison, Javier, Blanco Barca, Manuel Oscar, Lopez Laso, Eduardo, Alonso Luengo, Olga, Aguirre Rodriguez, Francisco Javier, Malaga Dieguez, Ignacio, Camacho Salas, Ana, Marti Carrera, Itxaso, Martinez Salcedo, Eduardo, Yoldi Petri, Maria Eugenia, Cancho Candela, Ramon, Carrilho, Ines da Conceicao, Vieira, Jose Pedro, da Silva Oliveira Monteiro, Jose Paulo, de Oliveira Ferreira Leao, Miguel Jorge Santos, Marceano Ribeiro Luis, Catarina Sofia, Mendonca, Carla Pires, Endziniene, Milda, Strautmanis, Jurgis, Talvik, Inga, Canevini, Maria Paola, Gambardella, Antonio, Pruna, Dario, Buono, Salvatore, Fontana, Elena, Dalla Bernardina, Bernardo, Burloiu, Carmen, Cosma, Iuliu Stefan Bacos, Vintan, Mihaela Adela, Popescu, Laura, Zitterbart, Karel, Payerova, Jaroslava, Bratsky, Ladislav, Zilinska, Zuzana, Gruber-Sedlmayr, Ursula, Baumann, Matthias, Laberlandt, Edda, Rostasy, Kevin, Pataraia, Ekaterina, Elmslie, Frances, Johnston, Clare Ann, Crawford, Pamela, Uldall, Peter, Uvebrant, Paul, Rask, Olof, Bjoernvold, Marit, Brodtkorb, Eylert, Sloerdahi, Andreas, Solhoff, Ragnar, Jaatun, Martine Sofie Gilje, Mandera, Marek, Radzikowska, Elzbieta Janina, Wysocki, Mariusz, Fischereder, Michael, Kurlemann, Gerhard, Wilken, Bernd, Wiemer-Kruel, Adelheid, Budde, Klemens, Marquard, Klaus, Knuf, Markus, Hahn, Andreas, Hartmann, Hans, Merkenschlager, Andreas, Trollmann, Regina, Consortium, TOSCA, Investigators, TOSCA, Physiotherapy, Human Physiology and Anatomy, Pediatrics, Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics, De Waele, L, [Marques R] Novartis Farma SpA, Origgio, Italy. Institute of Biomedicine (IBIOMED), University of Leon, León, Spain. [Belousova E] Research and Clinical Institute of Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia. [Benedik MP] SPS Pediatrična Klinika, Ljubljana, Slovenia. [Carter T] TSA Tuberous Sclerosis Association, Nottingham, United Kingdom. [Cottin V] Hôpital Louis Pradel, Claude Bernard University Lyon 1, Lyon, France. [Curatolo P] Tor Vergata University Hospital, Rome, Italy. [Macaya A] Servei de Pediatria General i Especialitats, Vall d'Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Novartis Pharma AG, Universidad de León [León], Pirogov Russian National Reasearch Medical University Moscow, University Medical Centre Ljubljana [Ljubljana, Slovenia] (UMCL), TSA Tuberous Sclerosis Association, Nottingham, United Kingdom, Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL), Department of Public Health and Cell Biology, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy, Karolinska Institutet [Stockholm], Association Sclérose Tubéreuse de Bourneville (Gradignan), University of Cape Town, Centro Hospitalar de Lisboa Central E.P.E, Medizinische Universität Wien = Medical University of Vienna, Universitätsklinik für Kinder-und Jugendheilkunde, Vivantes Klinikum Neukölln [Berlin, Germany] (VKN), Medical University of Warsaw - Poland, Sydney Children's hospital, Fundació Institut de Recerca de l'Hospital Universitari Vall d'Hebron, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Institute of Child Health [London], University College of London [London] (UCL), People's Hospital of Peking University (PEKING - PHPU), Peking University [Beijing], Tallinn Children's Hospital [Tallinn, Estonia], Klinikverbund Kempten-Oberallgäu gGmbH, University of Shizuoka, Service de Génétique Clinique Chromosomique et Moléculaire, CHU Saint-Etienne-Hôpital Nord - Saint-Etienne, St. Sophia Children’s Hospital, Athens, Department of Clinical Genetics, St George’s University Hospitals, and Vrije Universiteit Brussel (VUB)

Subjects
calidad, acceso y evaluación de la atención sanitaria::calidad de la atención sanitaria::mecanismos de evaluación de la atención sanitaria::recopilación de datos::registros [ATENCIÓN DE SALUD], Pediatrics, [SDV]Life Sciences [q-bio], Disease, registry, GUIDELINES, RECOMMENDATIONS, lcsh:RC346-429, Tuberous sclerosis, Epilepsy, 0302 clinical medicine, Health care, Medicine and Health Sciences, 030212 general & internal medicine, TOSCA, TSC, management, rare diseases, resource use, Serveis sanitaris - Administració, Original Research, Esclerosi tuberosa, Settore MED/39, 3. Good health, medicine.anatomical_structure, Neurology, HEALTH-CARE UTILIZATION, BURDEN, Life Sciences & Biomedicine, Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Neoplastic Syndromes, Hereditary::Tuberous Sclerosis [DISEASES], enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::síndromes neoplásicos hereditarios::esclerosis tuberosa [ENFERMEDADES], congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Clinical Neurology, DIAGNOSIS, Bases de dades - Disseny, calidad, acceso y evaluación de la atención sanitaria::prestación sanitaria::recursos en salud [ATENCIÓN DE SALUD], 03 medical and health sciences, MANAGEMENT, medicine, Health Care Quality, Access, and Evaluation::Delivery of Health Care::Health Resources [HEALTH CARE], lcsh:Neurology. Diseases of the nervous system, Science & Technology, Subependymal giant cell astrocytoma, business.industry, Neurosciences, medicine.disease, LYMPHANGIOLEIOMYOMATOSIS, Lymphangioleiomyomatosis, Neurosciences & Neurology, GIANT-CELL ASTROCYTOMA, Neurology (clinical), TSC1, business, 030217 neurology & neurosurgery, Health Care Quality, Access, and Evaluation::Quality of Health Care::Health Care Evaluation Mechanisms::Data Collection::Records::Registries [HEALTH CARE], Rare disease
Abstract

TSC; Resource use; TOSCA TSC; Uso de recursos; TOSCA TSC; Ús de recursos; TOSCA Tuberous Sclerosis Complex (TSC) is a rare autosomal-dominant disorder caused by mutations in the TSC1 or TSC2 genes. Patients with TSC may suffer from a wide range of clinical manifestations; however, the burden of TSC and its impact on healthcare resources needed for its management remain unknown. Besides, the use of resources might vary across countries depending on the country-specific clinical practice. The aim of this paper is to describe the use of TSC-related resources and treatment paterns within the TOSCA registry. A total of 2,214 patients with TSC from 31 countries were enrolled and had a follow-up of up to 5 years. A search was conducted to identify the variables containing both medical and non-medical resource use information within TOSCA. This search was performed both at the level of the core project as well as at the level of the research projects on epilepsy, subependymal giant cell astrocytoma (SEGA), lymphangioleiomyomatosis (LAM), and renal angiomyolipoma (rAML) taking into account the timepoints of the study, age groups, and countries. Data from the quality of life (QoL) research project were analyzed by type of visit and age at enrollment. Treatments varied greatly depending on the clinical manifestation, timepoint in the study, and age groups. GAB Aergics were the most prescribed drugs for epilepsy, and mTOR inhibitors are dramatically replacing surgery in patients with SEGA, despite corrent recommendations proposing both treatment options.mTOR inhibitors are also becoming common treatments in rAML and LAMpatients. Forty-two out of the 143 patients (29.4%) who participated in the QoL research project reported inpatient stays over the last year. Data from non-medical resource use showed the critical impact of TSC on job status and capacity. Disability allowances were more common in children than adults (51.1% vs 38.2%). Psychological counseling, social services and social worker services were needed by

Published
2019

33. Self-Reported Compliance With Personal Preventive Measures Among Chinese Factory Workers at the Beginning of Work Resumption Following the COVID-19 Outbreak: Cross-Sectional Survey Study (Preprint)

Author

Pan, Yihang, primary, Fang, Yuan, additional, Xin, Meiqi, additional, Dong, Willa, additional, Zhou, Liemin, additional, Hou, Qinghua, additional, Li, Fanping, additional, Sun, Gang, additional, Zheng, Zilong, additional, Yuan, Jinqiu, additional, Wang, Zixin, additional, and He, Yulong, additional

Published
2020
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35. Downregulation of hyperpolarization‐activated cyclic nucleotide‐gated channels ( HCN ) in the hippocampus of patients with medial temporal lobe epilepsy and hippocampal sclerosis ( MTLE‐HS )

Author

Lin, Wanrong, primary, Qin, Jiaming, additional, Ni, Guanzhong, additional, Li, Yinchao, additional, Xie, Haitao, additional, Yu, Jiabin, additional, Li, Hainan, additional, Sui, Lisen, additional, Guo, Qiang, additional, Fang, Ziyan, additional, and Zhou, Liemin, additional

Published
2020
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36. Epilepsy centers in China: Current status and ways forward.

Author

Lin, Yicong, Hu, Shimin, Hao, Xueya, Duan, Lirong, Wang, Wei, Zhou, Dong, Wang, Xuefeng, Xiao, Bo, Liu, Xiaoyan, Wang, Yi, Zhou, Liemin, Fu, Xianming, Jiang, Yuwu, Zhang, Jianguo, Deng, Yanchun, Wang, Wenzhi, Wu, Xun, Fang, Xianghua, Hong, Zhen, and Li, Shichuo

Subjects
DEEP brain stimulation, BRAIN stimulation, EPILEPSY, PHYSICIANS, NEURAL stimulation, VAGUS nerve, BIOMEDICAL technicians
Abstract

Summary: Objective: China has the largest population of patients with epilepsy worldwide, which imposes a heavy burden on the public and health care systems. Several epidemiological surveys on epilepsy have been performed in China. Although these surveys grossly describe the prevalence and gap in treatment of epilepsy, the status of epilepsy centers is unclear. The number of epilepsy centers has increased substantially in recent decades. Therefore, a nationwide investigation of the scale and distribution, personnel, equipment, and epilepsy care capacity of each epilepsy center is of great value. Methods: In 2017–2018, a multicenter cross‐sectional survey was performed by the Commission on Standardized Development of Epilepsy Centers, China Association Against Epilepsy in 31 provinces, autonomous regions, and municipalities. The survey consisted of 74 questions divided into four sections: (1) overview, (2) personnel, (3) essential equipment and facilities, and (4) epilepsy care service capacity. The questions ranged from January 1, 2016 to December 31, 2016. The data were analyzed using descriptive statistics. Results: There were 358 epilepsy centers for the 1.38 billion national population in 2016. Three quarters were in the eastern and western regions, and >90% were in tertiary hospitals. There were 9688 doctors engaged in epilepsy care, and 4.8% of doctors and electrophysiological physicians/technicians passed the national test for electroencephalography technical accreditation. A total of 9667 patients underwent resective surgeries in 2016. There were 888 vagus nerve stimulation procedures and 275 deep brain stimulation procedures. Significance: This study is the first unique survey of epilepsy centers in China. Despite their rapid development, epilepsy centers cannot meet patients' needs at this stage. The results provide data‐based evidence for the formulation of policies related to epilepsy service planning. [ABSTRACT FROM AUTHOR]

Published
2021
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37. Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex

Author

Karas, Antonina, Jiang, yuwu, Zou, Liping, Xu, Kaifeng, Zhang, yushi, Luan, Guoming, Zhang, yuqin, Wang, yi, Jin, Meiling, ye, Dingwei, Liao, Weiping, Zhou, Liemin, Liu, Jie, Liao, Jianxiang, yan, Bo, Deng, yanchun, Jiang, Li, Liu, Zhisheng, Huang, Shaoping, Li, Hua, Kim, Kijoong, Chen, Pei-Lung, Lee, Hsiu-Fen, Tsai, Jeng-Dau, Chi, Ching-Shiang, Huang, Chao-Ching, Riney, Kate, yates, Deborah, Kwan, Patrick, Likasitwattanakul, Surachai, Nabangchang, Charcrin, Chomtho, Lunliya Thampratankul Krisnachai, Katanyuwong, Kamornwan, Sriudomkajorn, Somjit, Wilmshurst, Jo, Segel, Reeval, Gilboa, Tal, Tzadok, Michal, Fattal-Valevski, Aviva, Papathanasopoulos, Panagiotis, Papavasiliou, Antigone Syrigou, Giannakodimos, Stylianos, Gatz, Stylianos, Pavlou, Evangelos, Tzoufi, Meropi, Vergeer, A. M. H., Dhooghe, Marc, Verhelst, Helene, Roelens, Filip, Nassogne, Marie Cecile, Defresne, Pierre, de Waele, Liesbeth, Leroy, Patricia, Demonceau, Nathalie, Legros, Benjamin, van Bogaert, Patrick, Ceulemans, Berten, Dom, Lina, Castelnau, Pierre, Martin, Anne de St, Riquet, Audrey, Milh, Mathieu, Cances, Claude, Pedespan, Jean-Michel, Ville, Dorothee, Roubertie, Agathe, Auvin, Stephane, Berquin, Patrick, Richelme, Christian, Allaire, Catherine, Gueden, Sophie, Tich, Sylvie Nguyen The, Godet, Bertrand, Rojas, Maria Luz Ruiz Falco, Planas, Jaume Campistol, Bermejo, Antonio Martinez, Dura, Patricia Smeyers, Aparicio, Susana Roldan, Gonzalez, Maria Jesus Martinez, Pison, Javier Lopez, Barca, Manuel Oscar Blanco, Laso, Eduardo Lopez, Luengo, Olga Alonso, Rodriguez, Francisco Javier Aguirre, Dieguez, Ignacio Malaga, Salas, Ana Camacho, Carrera, Itxaso Marti, Salcedo, Eduardo Martinez, Petri, Maria Eugenia yoldi, Candela, Ramon Cancho, Carrilho, Ines da Conceicao, Vieira, Jose Pedro, Monteiro, Jose Paulo da Silva Oliveira, Leao, Miguel Jorge Santos de Oliveira Ferreira, Luis, Catarina Sofia Marceano Ribeiro, Mendonca, Carla Pires, Endziniene, Milda, Strautmanis, Jurgis, Talvik, Inga, Canevini, Maria Paola, Gambardella, Antonio, Pruna, Dario, Buono, Salvatore, Fontana, Elena, Dalla Bernardina, Bernardo, Burloiu, Carmen, Cosma, Iuliu Stefan Bacos, Vintan, Mihaela Adela, Popescu, Laura, Zitterbart, Karel, Payerova, Jaroslava, Bratsky, Ladislav, Zilinska, Zuzana, Gruber-Sedlmayr, Ursula, Baumann, Matthias, Haberland, Edda, Rostasy, Kevin, Pataraia, Ekaterina, Elmslie, Frances, Johnston, Clare Ann, Crawford, Pamela, Uldall, Peter, Uvebrant, Paul, Rask, Olof, Bjoernvold, Marit, Brodtkorb, Eylert, Sloerdahl, Andreas, Solhoff, Ragnar, Jaatun, Martine Sofie Gilje, Mandera, Marek, Radzikowska, Elzbieta Janina, Wysocki, Mariusz, Fischereder, Michael, Kurlemann, Gerhard, Wilken, Bernd, Wiemer-Kruel, Adelheid, Budde, Klemens, Marquard, Klaus, Knuf, Markus, Hahn, Andreas, Hartmann, Hans, Merkenschlager, Andreas, Trollmann, Regina, Jansen, Anna C., Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, d'Amato, Lisa, d'Augeres, Guillaume Beaure, Vries, Petrus J., Ferreira, Jose C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, yukitoshi, Touraine, Renaud, youroukos, Sotiris, Zonnenberg, Bernard, Kingswood, John C., Shinohara, Nobuo, Horie, Shigeo, Kubota, Masaya, Tohyama, Jun, Imai, Katsumi, Kaneda, Mari, Kaneko, Hideo, Uchida, yasushi, Kirino, Tomoko, Endo, Shoichi, Inoue, yoshikazu, Uruno, Katsuhisa, Serdaroglu, Ayse, yapici, Zuhal, Anlar, Banu, Altunbasak, Sakir, Lvova, Olga, Belyaev, Oleg Valeryevich, Agranovich, Oleg, Levitina, Elena Vladislavovna, Maksimova, yulia Vladimirovna, Johns Hopkins University (JHU), Fudan University [Shanghai], EED, University of California [Los Angeles] (UCLA), University of California-University of California, Chimie pour la Reconnaissance et l’Etude d’Assemblages Biologiques (CREAB), SYstèmes Moléculaires et nanoMatériaux pour l’Energie et la Santé (SYMMES), Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Département Interfaces pour l'énergie, la Santé et l'Environnement (DIESE), Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), College of Computing (GATECH), Georgia Institute of Technology [Atlanta], Institute for Human Genetics, Safra Children's Hospital, Department of Neurology, University Hospital Patras, University Hospitals Leuven [Leuven], CHU de Liège, Laboratoire Angevin de Recherche en Ingénierie des Systèmes (LARIS), Université d'Angers (UA), University of Antwerp (UA), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Service de Neuro-pédiatrie[Lille], Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de Pédiatrie [CHU Toulouse], CHU Toulouse [Toulouse], Service de neurologie pédiatrique [CHU de Bordeaux], CHU de Bordeaux Pellegrin [Bordeaux], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Groupe de Recherche sur l'Analyse Multimodale de la Fonction Cérébrale - UMR INSERM_S 1105 (GRAMFC), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de pédiatrie, Centre Hospitalier Universitaire de Nice (CHU Nice)-Hôpital l'Archet, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service de Neurologie [Chateaulin], Centre Toul-arC'hoat, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Service de Neurologie [CHU Limoges], CHU Limoges, Lithuanian University of Health Sciences [Kaunas, Lithuania], Regional Epilepsy Center, Reggio Calabria, Innsbruck Medical University [Austria] (IMU), Witten/Herdecke University, St. George's Hospital, Danish Epilepsy Centre, Denmark and Aarhus University, Aarhus, Department of Pediatric Hematology and Oncology, Collegium Medicum, Nicolaus Copernicus University [Toruń], Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Moscow Regional Research Clinical Institute (MONICA), Infections Virales et Pathologie Comparée - UMR 754 (IVPC), Institut National de la Recherche Agronomique (INRA)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Universitat Autònoma de Barcelona (UAB), CHU Necker - Enfants Malades [AP-HP], Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPC), Service de Génétique Clinique Chromosomique et Moléculaire, CHU Saint-Etienne-Hôpital Nord - Saint-Etienne, Department of Clinical Genetics, Physiotherapy, Human Physiology and Anatomy, Pediatrics, Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics, De Waele, L, University of California (UC)-University of California (UC), UMR 1253 IBrain Imagerie & Cerveau Equipe 3 'Imagerie, Biomarqueurs & Thérapie' (IBT), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Innsbruck Medical University = Medizinische Universität Innsbruck (IMU), Institut National de la Recherche Agronomique (INRA)-École Pratique des Hautes Études (EPHE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), [Jansen AC] Pediatric Neurology Unit, Department of Pediatrics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium. [Belousova E] Research and Clinical Institute of Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia. [Benedik MP] Child Neurology Department, SPS Pediatriêna Klinika, Ljubljana, Slovenia. [Carter T] Tuberous Sclerosis Association, Nottingham, United Kingdom. [Cottin V] Hôpital Louis Pradel, Claude Bernard University Lyon 1, Lyon, France. [Curatolo P] Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University Hospital, Rome, Italy. [Macaya A] Neurologia pediàtrica, Hospital Universitari Vall d’Hebron, Barcelona, Spain., and Vall d'Hebron Barcelona Hospital Campus

Subjects
Quinases, Pediatrics, enzimas y coenzimas::enzimas::transferasas::fosfotransferasas::fosfotransferasas (grupo alcohol aceptor)::proteína cinasas::proteína-serina-treonina cinasas::TOR serina-treonina cinasas [COMPUESTOS QUÍMICOS Y DROGAS], Angiomyolipoma, Neurology, [SDV]Life Sciences [q-bio], CHILDREN, tuberous sclerosis complex, registry, Neoplasms::Neoplasms by Histologic Type::Neoplasms::Neoplasms by Histologic Type::Neoplasms, Glandular and Epithelial::Neoplasms, Neuroepithelial::Glioma::Neoplasms::Neoplasms by Histologic Type::Astrocytoma [DISEASES], SEGA, RECOMMENDATIONS, DISEASE, lcsh:RC346-429, Tuberous sclerosis, DOUBLE-BLIND, 0302 clinical medicine, EVEROLIMUS, neoplasias::hamartoma::esclerosis tuberosa [ENFERMEDADES], Medicine and Health Sciences, 030212 general & internal medicine, Original Research, Intracranial pressure, Esclerosi tuberosa, 3. Good health, medicine.anatomical_structure, mTOR, Astrocitomes, Life Sciences & Biomedicine, medicine.drug, medicine.medical_specialty, Clinical Neurology, DIAGNOSIS, 03 medical and health sciences, medicine, MANAGEMENT, TOSCA, lcsh:Neurology. Diseases of the nervous system, Everolimus, Science & Technology, Subependymal giant cell astrocytoma, business.industry, ANGIOMYOLIPOMA, neoplasias::neoplasias por tipo histológico::neoplasias::neoplasias por tipo histológico::neoplasias glandulares y epiteliales::neoplasias neuroepiteliales::glioma::neoplasias::neoplasias por tipo histológico::astrocitoma [ENFERMEDADES], Neurosciences, medicine.disease, SEVERITY, Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Protein Kinases::Protein-Serine-Threonine Kinases::TOR Serine-Threonine Kinases [CHEMICALS AND DRUGS], Neurology (clinical), TSC1, Neurosciences & Neurology, TSC2, business, 030217 neurology & neurosurgery, Neoplasms::Hamartoma::Tuberous Sclerosis [DISEASES]
Abstract

SEGA; TOSCA; Tuberous sclerosis complex SEGA; TOSCA; Complejo de esclerosis tuberosa SEGA; TOSCA; Complex d'esclerosi tuberosa Background: This study evaluated the characteristics of subependymal giant cell astrocytoma (SEGA) in patients with tuberous sclerosis complex (TSC) entered into the TuberOus SClerosis registry to increase disease Awareness (TOSCA). Methods: The study was conducted at 170 sites across 31 countries. Data from patients of any age with a documented clinical visit for TSC in the 12 months preceding enrollment or those newly diagnosed with TSC were entered. Results: SEGA were reported in 554 of 2,216 patients (25%). Median age at diagnosis of SEGA was 8 years (range, 18 years. SEGA were symptomatic in 42.1% of patients. Symptoms included increased seizure frequency (15.8%), behavioural disturbance (11.9%), and regression/loss of cognitive skills (9.9%), in addition to those typically associated with increased intracranial pressure. SEGA were significantly more frequent in patients with TSC2 compared to TSC1 variants (33.7 vs. 13.2 %, p < 0.0001). Main treatment modalities included surgery (59.6%) and mammalian target of rapamycin (mTOR) inhibitors (49%). Conclusions: Although SEGA diagnosis and growth typically occurs during childhood, SEGA can occur and grow in both infants and adults. The study was funded by Novartis Pharma AG. Novartis has contributed to the study design, data analysis, and the decision to publish. Novartis authors reviewed the draft for submission.

Published
2019

38. Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex

Author

Jansen, Anna C. Belousova, Elena Benedik, Mirjana P. Carter, Tom Cottin, Vincent Curatolo, Paolo Dahlin, Maria and D'Amato, Lisa d'Augeres, Guillaume Beaure de Vries, Petrus J. and Ferreira, Jose C. Feucht, Martha Fladrowski, Carla and Hertzberg, Christoph Jozwiak, Sergiusz Lawson, John A. and Macaya, Alfons Marques, Ruben Nabbout, Rima O'Callaghan, Finbar Qin, Jiong Sander, Valentin Sauter, Matthias and Shah, Seema Takahashi, Yukitoshi Touraine, Renaud Youroukos, Sotiris Zonnenberg, Bernard Kingswood, John C. Shinohara, Nobuo Horie, Shigeo Kubota, Masaya Tohyama, Jun Imai, Katsumi Kaneda, Mari Kaneko, Hideo Uchida, Yasushi and Kirino, Tomoko Endo, Shoichi Inoue, Yoshikazu Uruno, Katsuhisa Serdaroglu, Ayse Yapici, Zuhal Anlar, Banu and Altunbasak, Sakir Lvova, Olga Belyaev, Oleg Valeryevich and Agranovich, Oleg Levitina, Elena Vladislavovna Maksimova, Yulia Vladimirovna Karas, Antonina Jiang, Yuwu Zou, Liping Xu, Kaifeng Zhang, Yushi Luan, Guoming Zhang, Yuqin Wang, Yi and Jin, Meiling Ye, Dingwei Liao, Weiping Zhou, Liemin and Liu, Jie Liao, Jianxiang Yan, Bo Deng, Yanchun Jiang, Li and Liu, Zhisheng Huang, Shaoping Li, Hua Kim, Kijoong and Chen, Pei-Lung Lee, Hsiu-Fen Tsai, Jeng-Dau Chi, Ching-Shiang Huang, Chao-Ching Riney, Kate Yates, Deborah and Kwan, Patrick Likasitwattanakul, Surachai Nabangchang, Charcrin Chomtho, Lunliya Thampratankul Krisnachai Katanyuwong, Kamornwan Sriudomkajorn, Somjit Wilmshurst, Jo Segel, Reeval and Gilboa, Tal Tzadok, Michal Fattal-Valevski, Aviva and Papathanasopoulos, Panagiotis Papavasiliou, Antigone Syrigou and Giannakodimos, Stylianos Gatz, Stylianos Pavlou, Evangelos and Tzoufi, Meropi Vergeer, A. M. H. Dhooghe, Marc Verhelst, Helene Roelens, Filip Nassogne, Marie Cecile Defresne, Pierre De Waele, Liesbeth Leroy, Patricia Demonceau, Nathalie Legros, Benjamin Van Bogaert, Patrick Ceulemans, Berten Dom, Lina Castelnau, Pierre Martin, Anne De St and Riquet, Audrey Milh, Mathieu Cances, Claude Pedespan, Jean-Michel Ville, Dorothee Roubertie, Agathe Auvin, Stephane Berquin, Patrick Richelme, Christian Allaire, Catherine Gueden, Sophie Tich, Sylvie Nguyen The Godet, Bertrand Rojas, Maria Luz Ruiz Falco Planas, Jaume Campistol and Bermejo, Antonio Martinez Dura, Patricia Smeyers Aparicio, Susana Roldan Gonzalez, Maria Jesus Martinez Pison, Javier Lopez and Barca, Manuel Oscar Blanco Laso, Eduardo Lopez Luengo, Olga Alonso Rodriguez, Francisco Javier Aguirre Dieguez, Ignacio Malaga Salas, Ana Camacho Carrera, Itxaso Marti Salcedo, Eduardo Martinez Petri, Maria Eugenia Yoldi Candela, Ramon Cancho Carrilho, Ines da Conceicao Vieira, Jose Pedro and Monteiro, Jose Paulo da Silva Oliveira Leao, Miguel Jorge Santos de Oliveira Ferreira Luis, Catarina Sofia Marceano Ribeiro and Mendonca, Carla Pires Endziniene, Milda Strautmanis, Jurgis and Talvik, Inga Canevini, Maria Paola Gambardella, Antonio and Pruna, Dario Buono, Salvatore Fontana, Elena Dalla Bernardina, Bernardo Burloiu, Carmen Cosma, Iuliu Stefan Bacos and Vintan, Mihaela Adela Popescu, Laura Zitterbart, Karel and Payerova, Jaroslava Bratsky, Ladislav Zilinska, Zuzana and Gruber-Sedlmayr, Ursula Baumann, Matthias Haberland, Edda and Rostasy, Kevin Pataraia, Ekaterina Elmslie, Frances and Johnston, Clare Ann Crawford, Pamela Uldall, Peter Uvebrant, Paul Rask, Olof Bjoernvold, Marit Brodtkorb, Eylert and Sloerdahl, Andreas Solhoff, Ragnar Jaatun, Martine Sofie Gilje and Mandera, Marek Radzikowska, Elzbieta Janina Wysocki, Mariusz and Fischereder, Michael Kurlemann, Gerhard Wilken, Bernd and Wiemer-Kruel, Adelheid Budde, Klemens Marquard, Klaus Knuf, Markus Hahn, Andreas Hartmann, Hans Merkenschlager, Andreas and Trollmann, Regina TOSCA Consortium TOSCA Investigators

Abstract

Background: This study evaluated the characteristics of subependymal giant cell astrocytoma (SEGA) in patients with tuberous sclerosis complex (TSC) entered into the TuberOus SClerosis registry to increase disease Awareness (TOSCA). Methods: The study was conducted at 170 sites across 31 countries. Data from patients of any age with a documented clinical visit for TSC in the 12 months preceding enrollment or those newly diagnosed with TSC were entered. Results: SEGA were reported in 554 of 2,216 patients (25%). Median age at diagnosis of SEGA was 8 years (range, 18 years. SEGA were symptomatic in 42.1% of patients. Symptoms included increased seizure frequency (15.8%), behavioural disturbance (11.9%), and regression/loss of cognitive skills (9.9%), in addition to those typically associated with increased intracranial pressure. SEGA were significantly more frequent in patients with TSC2 compared to TSC1 variants (33.7 vs. 13.2 %, p < 0.0001). Main treatment modalities included surgery (59.6%) and mammalian target of rapamycin (mTOR) inhibitors (49%). Conclusions: Although SEGA diagnosis and growth typically occurs during childhood, SEGA can occur and grow in both infants and adults.

Published
2019

39. Presynaptic and axonal loss are synergistically associated with longitudinal neurodegeneration and cognitive decline.

Author

Shi, Dai, Lan, Guoyu, Cai, Yue, Li, Anqi, Zhu, Yalin, Zhou, Liemin, and Guo, Tengfei

Abstract

Background: Both presynaptic losses measured by cerebrospinal fluid (CSF) growth‐associated protein 43 (GAP‐43) and axonal degeneration detected by plasma neurofilament light (NfL) may be related to neurodegeneration and cognitive decline. However, it is still not fully understood whether CSF GAP‐43 and plasma NfL have a synergistic effect on predicting longitudinal neurodegeneration and cognitive decline. Method: We identified 730 Alzheimer's Disease Neuroimaging Initiative participants (233 cognitively unimpaired (CU), 387 mild cognitive impairment (MCI), and 110 AD dementia) with concurrent (interval < 1 year) CSF GAP‐43, plasma NfL, and longitudinal memory and executive function data. Among them, 706 participants (225 CU, 388 MCI, 93 AD dementia) had longitudinal measurements of residual hippocampal volume (rHCV) and temporal metaROI cortical thickness, and 366 participants (108 CU, 235 MCI, 23 AD dementia) had longitudinal data of metaROI 18F‐fluorodeoxyglucose (FDG) standard uptake value ratio (SUVR). We investigated the interaction of baseline CSF GAP‐43 and plasma NfL at longitudinal prediction of rHCV, temporal metaROI cortical thickness, metaROI FDG SUVR, memory, and executive function, controlling for age, sex, education, and diagnosis. Result: Higher CSF GAP‐43 and Plasma NfL at baseline had significant interaction (p = 0.028) on predicting faster rates of temporal metaROI cortical thinning but not on longitudinal decreases of rHCV and metaROI FDG SUVR (Figure 1). In addition, given the same levels of CSF GAP‐43, higher baseline plasma NfL was related to more rapid rates of decline in memory (p = 0.022) and executive function (p = 0.004) over more than 4 years of median follow‐up (Figure 2). Conclusion: We found a synergistic effect between presynaptic dysfunction and axonal degeneration on predicting longitudinal cortical thinning and cognitive decline. These findings provide novel insights into understanding the association of presynaptic and axonal loss with subsequent neurodegeneration and cognitive decline in elderly adults. [ABSTRACT FROM AUTHOR]

Published
2023
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41. Correlation of MCT1 and ABCC2 gene polymorphisms with valproic acid resistance in patients with epilepsy on valproic acid monotherapy

Author

Chen, Juan, primary, Su, Qibiao, additional, Qin, Jiaming, additional, Zhou, Yi, additional, Ruan, Honglian, additional, Chen, Ziyi, additional, Chen, Zhuojia, additional, Li, Hongliang, additional, Zhou, Yafang, additional, Zhou, Shan, additional, Wang, Xueding, additional, Zhou, Liemin, additional, and Huang, Min, additional

Published
2019
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47. Polymorphisms of ABCG2, ABCB1and HNF4αare associated with Lamotrigine trough concentrations in epilepsy patients

Author

Zhou, Yafang, Wang, Xueding, Li, Hongliang, Zhang, Jie, Chen, Ziyi, Xie, Wen, Zhang, Jinxin, Li, Jiali, Zhou, Liemin, and Huang, Min

Abstract

Lamotrigine (LTG) is commonly used to control seizure in epilepsy patients and with referenced therapeutic windows in clinical practice. This study is to identify and characterize the function of genetic variants that influence the trough concentrations of LTG in epilepsy patients following monotherapy regimen (37.5–250 mg/d). Twelve single nucleotide polymorphisms (SNPs) involved in LTG metabolism and transport pathways, including UGT2B7, ABCB1, ABCG2, NR1I2and HNF4αwere genotyped in 140 Chinese epilepsy patients. Steady-state trough concentration of LTG was measured by a high-performance liquid chromatography method. Polymorphisms in ABCG2rs2231142, rs3114020, HNF4αrs2071197 and ABCB1rs1128503 were found to be associated with LTG CDR (concentration/dose normalized by body weight). In addition, multiple linear regression analysis revealed that ABCG2rs2231142 had a remarkable effect on LTG concentrations which is stated to be 4.8% of the variability of LTG and may also help to interpret ethnic difference in LTG pharmacokinetics. Our findings provided new insights that SNPs of genes involved in the transport of LTG contribute to interpatient variation in LTG pharmacokinetics. Future studies are necessary to determine whether these SNPs can be used to provide LTG dosing guidance and influence seizure control and adverse reaction of LTG.

Published
2015
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48. Long-term expressional changes of Na+–K+–Cl− co-transporter 1 (NKCC1) and K+–Cl− co-transporter 2 (KCC2) in CA1 region of hippocampus following lithium-pilocarpine induced status epilepticus (PISE)

Author

Li, Xiubin, Zhou, Jueqian, Chen, Ziyi, Chen, Shuda, Zhu, Feiqi, and Zhou, Liemin

Subjects
*TREATMENT of epilepsy, *TARGETED drug delivery, *GENE expression, *MESSENGER RNA
Abstract

Abstract: NKCC1 and KCC2 are encoded by slc12 gene family and involved in the maintenance of intracellular chloride concentration which may be associated with epileptogenesis. In this study, we aimed to investigate the long-term expression profiles of NKCC1 and KCC2 in CA1 region in the mice model of lithium-pilocarpine induced status epilepticus (PISE) and their relationship with epileptogenesis. We found NKCC1 mRNA and proteins were up-regulated at 1 d, 14 d and 45 d after pilocarpine injection, while KCC2 was down-regulated. According to obtained results, there were some expressional changes of NKCC1 and KCC2. Deregulation of their expression may break the balance of intracellular and extracellular chloride concentration which contributes to the mechanism of hyperexcitability leading to seizures. Also it may provide new drug targets for development of new antiepileptic medicine. [Copyright &y& Elsevier]

Published
2008
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49. Gut microbiota and serum metabolomic alterations in modulating the impact of fecal microbiota transplantation on ciprofloxacin-induced seizure susceptibility.

Author

Zou S, Li Y, Zou Q, Yang M, Li H, Niu R, Lai H, Wang J, Yang X, and Zhou L

Abstract

Introduction: The gut microbiota and the microbiota-gut-brain axis have gained considerable attention in recent years, emerging as key players in the mechanisms that mediate the occurrence and progression of many central nervous system-related diseases, including epilepsy. In clinical practice, one of the side effects of quinolone antibiotics is a lower seizure threshold or aggravation. However, the underlying mechanism remains unclear., Methods: We aimed to unravel the intrinsic mechanisms through 16S rRNA sequencing and serum untargeted metabolomic analysis to shed light on the effects of gut microbiota in ciprofloxacin-induced seizure susceptibility and lithium pilocarpine-induced epilepsy rat models., Results: We observed that ciprofloxacin treatment increased seizure susceptibility and caused gut dysbiosis. We also found similar changes in the gut microbiota of rats with lithium pilocarpine-induced epilepsy. Notably, the levels of Akkermansia and Bacteroides significantly increased in both the ciprofloxacin-induced seizure susceptibility and lithium pilocarpine-induced epilepsy rat models. However, Marvinbryantia, Oscillibacter , and Ruminococcaceae&#95;NK4A214&#95;group showed a coincidental reduction. Additionally, the serum untargeted metabolomic analysis revealed decreased levels of indole-3-propionic acid, a product of tryptophan-indole metabolism, after ciprofloxacin treatment, similar to those in the plasma of lithium pilocarpine-induced epilepsy in rats. Importantly, alterations in the gut microbiota, seizure susceptibility, and indole-3-propionic acid levels can be restored by fecal microbiota transplantation., Conclusion: In summary, our findings provide evidence that ciprofloxacin-induced seizure susceptibility is partially mediated by the gut microbiota and tryptophan-indole metabolism. These associations may play a role in epileptogenesis, and impacting the development progression and treatment outcomes of epilepsy., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Zou, Li, Zou, Yang, Li, Niu, Lai, Wang, Yang and Zhou.)

Published
2024
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50. Association of β-Amyloid, Microglial Activation, Cortical Thickness, and Metabolism in Older Adults Without Dementia.

Author

Cai Y, Shi D, Lan G, Chen L, Jiang Y, Zhou L, and Guo T

Subjects
Humans, Female, Aged, Male, Microglia metabolism, Amyloid beta-Peptides metabolism, Glucose, Biomarkers, Positron-Emission Tomography methods, Peptide Fragments, tau Proteins, Alzheimer Disease metabolism, Amyloidosis, Cognitive Dysfunction metabolism
Abstract

Background and Objectives: Plasma β-amyloid 42 (Aβ 42 )/Aβ 40 levels have shown promise in identifying Aβ-PET positive individuals. This study explored the concordance and discordance of plasma Aβ 42 /Aβ 40 positivity (Plasma±) with CSF Aβ 42 /Aβ 40 positivity (CSF±) and Aβ-PET positivity (PET±) in older adults without dementia. Associations of Aβ deposition, cortical thickness, glucose metabolism, and microglial activation were also investigated., Methods: We selected participants without dementia who had concurrent plasma Aβ 42 /Aβ 40 and Aβ-PET scans from the Alzheimer's Disease Neuroimaging Initiative cohort. Participants were categorized into Plasma±/PET± based on thresholds of composite 18 F-florbetapir (FBP) standardized uptake value ratio (SUVR) ≥1.11 and plasma Aβ 42 /Aβ 40 ≤0.1218. Aβ-PET-negative individuals were further divided into Plasma±/CSF± (CSF Aβ 42 /Aβ 40 ≤0.138), and the concordance and discordance of Aβ 42 /Aβ 40 in the plasma and CSF were investigated. Baseline and slopes of regional FBP SUVR were compared among Plasma±/PET± groups, and associations of regional FBP SUVR, FDG SUVR, cortical thickness, and CSF soluble Triggering Receptor Expressed on Myeloid Cell 2 (sTREM2) levels were analyzed., Results: One hundred eighty participants (mean age 72.7 years, 51.4% female, 96 cognitively unimpaired, and 84 with mild cognitive impairment) were included. We found that the proportion of Plasma+/PET- individuals was 6.14 times higher (odds ratio (OR) = 6.143, 95% confidence interval (CI) 2.740-16.185, p < 0.001) than that of Plasma-/PET+ individuals, and Plasma+/CSF- individuals showed 8.5 times larger percentage (OR = 8.5, 95% CI: 3.031-32.974, p < 0.001) than Plasma-/CSF+ individuals in Aβ-PET-negative individuals. Besides, Plasma+/PET- individuals exhibited faster ( p < 0.05) Aβ accumulation predominantly in bilateral banks of superior temporal sulcus (BANKSSTS) and supramarginal, and superior parietal cortices compared with Plasma-/PET- individuals, despite no difference in baseline FBP SUVRs. In Plasma+/PET+ individuals, higher CSF sTREM2 levels correlated with slower BANKSSTS Aβ accumulation (standardized β (β std ) = -0.418, 95% CI -0.681 to -0.154, p = 0.002). Conversely, thicker cortical thickness and higher glucose metabolism in supramarginal and superior parietal cortices were associated with faster ( p < 0.05) CSF sTREM2 increase in Plasma+/PET- individuals rather than in Plasma+/PET+ individuals., Discussion: These findings suggest that plasma Aβ 42 /Aβ 40 abnormalities may predate CSF Aβ 42 /Aβ 40 and Aβ-PET abnormalities. Higher sTREM2-related microglial activation is linked to thicker cortical thickness and higher metabolism in early amyloidosis stages but tends to mitigate Aβ accumulation primarily at relatively advanced stages.

Published
2024
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