Article
Biochemistry & Molecular Biology
Mitra Barzroodi Pour, Mohamad Bayat, Azam Navazesh, Mansoureh Soleimani, Fariba Karimzadeh
Summary: The study demonstrated that the combined therapy of exercise and CBZ enhanced the efficacy of anti-epileptic treatment and allowed for a reduction in anti-epileptic drug dosage. Furthermore, the alteration of GABA signaling may play a role in the synergistic effect of exercise and CBZ on epileptic rats.
NEUROCHEMICAL RESEARCH
(2021)
Article
Biochemistry & Molecular Biology
Ji-Eun Kim, Tae-Cheon Kang
Summary: The upregulation of TASK-1 expression in CA1 astrocytes may be involved in refractory seizures to LEV. Inhibition of TASK-1 expression by LEV reduces seizure activities in responders but not non-responders.
Article
Computer Science, Information Systems
Omaima Ouichka, Amira Echtioui, Habib Hamam
Summary: This article proposes a method based on deep learning models to automatically predict epileptic seizures. The experimental results show that the methods based on 3-CNN and 4-CNN achieve the best accuracy values of 95%.
Article
Clinical Neurology
Shuang Wang, Chang Liu, Hongwei Zhang, Qingzhu Liu, Taoyun Ji, Ying Zhu, Yan Fan, Hao Yu, Guojing Yu, Wen Wang, Dongming Wang, Lixin Cai, Xiaoyan Liu
Summary: This study analyzed the influence of seizure semiology, EEG features, and MRI changes on localization and surgical prognosis in children with epileptic spasm. The results showed that MRI was effective in identifying lesions and surgical treatment had good outcomes in most patients.
FRONTIERS IN NEUROLOGY
(2022)
Review
Cell Biology
Saud A. Alnaaim, Hayder M. Al-kuraishy, Ali I. Al-Gareeb, Naif H. Ali, Athanasios Alexiou, Marios Papadakis, Hebatallah M. Saad, Gaber El-Saber Batiha
Summary: Epilepsy is a chronic neurological disease characterized by recurrent seizures. Despite the effectiveness of anti-epileptic agents (AEAs) in controlling epilepsy, a significant proportion of patients do not respond to conventional treatment. Therefore, adding FDA-approved drugs with anti-seizure activity, such as metformin, to the treatment regimen is a logical approach. This review aims to explore the mechanism of action of metformin in epilepsy.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
(2023)
Article
Clinical Neurology
Laura Gagliano, Tian Yue Ding, Denahin H. Toffa, Laurence Beauregard, Manon Robert, Frederic Lesage, Mohamad Sawan, Dang K. Nguyen, Elie Bou Assi
Summary: This study found that lower sleep efficiency is associated with seizures, suggesting that wearable sensors may be helpful in predicting seizure occurrence in people with epilepsy.
FRONTIERS IN NEUROLOGY
(2023)
Article
Biochemistry & Molecular Biology
Ramy Hussein, Soojin Lee, Rabab Ward
Summary: In this study, a Transformer-based approach called MViT is introduced for automated learning of spatio-temporal-spectral features in multi-channel EEG data. Extensive experiments demonstrate the superiority of MViT algorithm in seizure prediction.
Article
Neurosciences
Limin Ma, Qingyuan Wu, Jinxian Yuan, You Wang, Peng Zhang, Qiankun Liu, Dandan Tan, Minxue Liang, Yangmei Chen
Summary: This study reveals a crucial role of ANXA2 in epilepsy. It regulates excitatory synaptic activity mediated by AMPAR subunit GluA1 to improve seizure activity, which provides novel insights for the treatment and prevention of epilepsy.
CNS NEUROSCIENCE & THERAPEUTICS
(2023)
Article
Chemistry, Analytical
Gul Hameed Khan, Nadeem Ahmad Khan, Muhammad Awais Bin Altaf, Qammer Abbasi
Summary: This paper proposes a trainable hybrid approach for epileptic seizure detection using a shallow autoencoder (AE) and a conventional classifier. The encoded AE representation is used as a feature vector for classifying EEG signal segments as epileptic or non-epileptic. The algorithm has low computational complexity and can be used in body sensor networks and wearable devices. Experimental results show that the proposed method achieves high accuracy and sensitivity in detecting abnormal seizure activity.
Article
Multidisciplinary Sciences
Souleyman Hassan, Elijah Mwangi, Peter Kamita Kihato
Summary: The unpredictable nature of epileptic seizures makes it challenging to detect and effectively treat this disorder. This research focuses on monitoring and preventing grand mal epilepsy tonic-clonic seizures using an IoT system and fuzzy logic algorithm. The prototype monitoring system has high accuracy in detecting various symptoms of epileptic seizures.
Article
Clinical Neurology
Sanja Tomasovic, Josip Sremec, Jelena Koscak Lukac, Gordana Sicaja, Koraljka Bacic Baronica, Vedran Ostojic, Zurap Raifi, Nada Tomic Sremec, Dunja Placko-Vrsnak, Lidija Srnec, Krunoslav Mikec
Summary: Meteorological conditions have an impact on daily numbers of seizures, with fewer patients experiencing seizures under high pressure weather conditions and higher frequency of seizures when the biometeorological prognosis is unfavorable. Additionally, a larger proportion of seizure patients were observed on warmer days compared to colder days. This suggests that weather patterns may influence epilepsy patients, but the exact mechanisms are not yet fully understood.
Article
Computer Science, Artificial Intelligence
Ramy Hussein, Soojin Lee, Rabab Ward, Martin J. McKeown
Summary: This study introduces a novel semi-dilated convolutional neural network architecture that outperforms previous methods in predicting epileptic seizures, achieving an average prediction sensitivity of 98.90% for scalp EEG.
Article
Chemistry, Multidisciplinary
Marcin Kolodziej, Andrzej Majkowski, Andrzej Rysz
Summary: This article explores the possibilities, issues, and challenges associated with utilizing artificial intelligence for seizure detection using the publicly available iEEG database. It presents standard approaches for analyzing iEEG signals and discusses modern deep learning algorithms. The study shows that CNN and LSTM networks yield significantly better results, and the gradient-weighted class activation mapping algorithm can identify important iEEG signal fragments for seizure detection.
APPLIED SCIENCES-BASEL
(2023)
Article
Clinical Neurology
Regina J. Faubel, Veronica S. Santos Canellas, Jenna Gaesser, Nancy H. Beluk, Tim N. Feinstein, Yong Wang, Maya Yankova, Kalyani B. Karunakaran, Stephen M. King, Madhavi K. Ganapathiraju, Cecilia W. Lo
Summary: This study reveals the association between abnormal motile cilia motion and flow pattern with epilepsy. These findings suggest that cilia regulating kinases may be potential therapeutic targets for medication-resistant epilepsy.
ACTA NEUROPATHOLOGICA
(2022)
Article
Engineering, Biomedical
Xuyang Zhao, Noboru Yoshida, Tetsuya Ueda, Hidenori Sugano, Toshihisa Tanaka
Summary: This study applies commonly used models such as LeNet, VGG, ResNet, and ViT to the EEG image classification task, and solves the problems of data imbalance and model interpretation through data augmentation and model explanation methods. The models achieve good performance in seizure detection and provide visual and quantitative information for clinical experts in diagnosis.
JOURNAL OF NEURAL ENGINEERING
(2023)
Article
Genetics & Heredity
Shiomi Otsuji, Yosuke Nishio, Maki Tsujita, Marlene Rio, Celine Huber, Carlos Anton-Plagaro, Seiji Mizuno, Yoshihiko Kawano, Satoko Miyatake, Marleen Simon, Ellen van Binsbergen, Richard H. van Jaarsveld, Naomichi Matsumoto, Valerie Cormier-Daire, Peter J. Cullen, Shinji Saitoh, Kohji Kato
Summary: This study reported three new cases of VPS35L-associated Ritscher-Schinzel syndrome (RSS) and investigated the clinical spectrum and underlying molecular mechanism. Novel complications, including hypercholesterolemia, hypogammaglobulinemia, and intestinal lymphangiectasia, were identified in addition to the typical features of RSS. Cellular analysis revealed that VPS35L deficiency decreased the cell surface level of lipoprotein receptor-related protein 1 and low-density lipoprotein receptor, resulting in reduced low-density lipoprotein cellular uptake.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Clinical Neurology
Yuji Ito, Tadashi Ito, Atsuko Ohno, Tetsuo Kubota, Kaori Tanemura, Sho Narahara, Erina Kataoka, Reina Hyodo, Yuichiro Sugiyama, Tetsuo Hattori, Hiroyuki Kidokoro, Hideshi Sugiura, Koji Noritake, Jun Natsume, Nobuhiko Ochi
Summary: This study aimed to assess gait performance and its correlation with physical functions in children with Down syndrome (DS), as well as the dual-task costs. The results showed that children with DS had poorer balance function, muscle strength, and gait quality compared to the control group. In the DS group, there was a positive correlation between gait speed, step length, and intelligence quotient. Dual-task costs for gait speed, step length, and cadence were greater in the DS group, highlighting the importance of appropriate interventions for motor functions in these children.
BRAIN & DEVELOPMENT
(2023)
Article
Genetics & Heredity
Yuta Inoue, Naomi Tsuchida, Nobuhiko Okamoto, Shimakawa Shuichi, Kei Ohashi, Shinji Saitoh, Atsushi Ogawa, Keisuke Hamada, Masamune Sakamoto, Noriko Miyake, Kohei Hamanaka, Atsushi Fujita, Eriko Koshimizu, Satoko Miyatake, Takeshi Mizuguchi, Kazuhiro Ogata, Yuri Uchiyama, Naomichi Matsumoto
Summary: AFF3 gene, located at 2q11.2, encodes the nuclear transcriptional activator AF4/FMR2 Family Member 3, which is involved in promoting the expression of genes related to neurogenesis and development. Variants in the degron region of AFF3 have been shown to cause KINSSHIP syndrome. This study identified novel missense variants in the degron of AFF3, including two cases with mosaic variants, suggesting that mosaic variants can also contribute to the development of KINSSHIP syndrome with diverse phenotypes.
Article
Rehabilitation
Tadashi Ito, Hideshi Sugiura, Yuji Ito, Akio Nakai, Sho Narahara, Koji Noritake, Daiki Takahashi, Jun Natsume, Nobuhiko Ochi
Summary: The objective of this study was to compare walking efficiency and associated physical function between children with and without developmental coordination disorder trait. The study found that compared to the control group, the developmental coordination disorder group had lower walking efficiency, higher step length variability, and shorter single leg stance test. These results suggest that developmental coordination disorder trait can affect walking efficiency and physical function in children.
CLINICAL REHABILITATION
(2023)
Article
Obstetrics & Gynecology
Yukiyo Nagai, Yuko Mizutani, Kayo Nomura, Osamu Uemura, Shinji Saitoh, Osuke Iwata
Summary: Preterm birth is associated with increased incidence of ASD, but there is no significant difference in autistic traits between preterm and term children. In this study, children born very preterm and term were compared using ADOS-2 severity scores and SRS-2 T-scores, and no significant difference was found in severity scores. There was a trend that T-scores were smaller for the preterm cohort, but it was not statistically significant. Further studies are needed to investigate the impact of preterm birth on autistic traits and parental perception in a large prospective cohort.
EARLY HUMAN DEVELOPMENT
(2023)
Article
Engineering, Environmental
Nayan C. Mohanto, Yuki Ito, Sayaka Kato, Takeshi Ebara, Kayo Kaneko, Tomoyuki Tsuchiyama, Mayumi Sugiura-Ogasawara, Shinji Saitoh, Michihiro Kamijima
Summary: This study assessed the exposure risks of 1.5-year-old toddlers to phthalates and found that some toddlers were exposed to levels higher than the cutoff value, indicating potential health risks. Therefore, measures should be taken to identify sources of exposure and mitigate the risks.
ENVIRONMENTAL SCIENCE & TECHNOLOGY
(2023)
Article
Clinical Neurology
Takeshi Suzuki, Yuji Ito, Tadashi Ito, Hiroyuki Kidokoro, Koji Noritake, Keita Tsujimura, Shinji Saitoh, Hiroyuki Yamamoto, Nobuhiko Ochi, Naoko Ishihara, Izumi Yasui, Hideshi Sugiura, Tomohiko Nakata, Jun Natsume
Summary: In this study, we quantitatively evaluated gait pathology in patients with Rett syndrome using three-dimensional gait analysis. The results showed that patients with Rett syndrome exhibit abnormal gait, especially in the coronal plane of the pelvis and hip joint, as well as the horizontal plane of the pelvis.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2023)
Correction
Genetics & Heredity
Masanori Fujimoto, Yuji Nakamura, Toshihiko Iwaki, Emi Sato, Daisuke Ieda, Ayako Hattori, Anna Shiraki, Seiji Mizuno, Shinji Saitoh
JOURNAL OF HUMAN GENETICS
(2023)
Article
Pediatrics
Asuka Shimozato, Kei Ohashi, Shinji Saitoh
PEDIATRICS INTERNATIONAL
(2023)
Article
Oncology
Ryutaro Nishikawa, Mayumi Sugiura-Ogasawara, Takeshi Ebara, Taro Matsuki, Hazuki Tamada, Sayaka Kato, Kayo Kaneko, Shinji Saitoh, Michihiro Kamijima
Summary: This study examined the impact of AYA cancer on pregnancy outcomes and infectious diseases in infants. It found that AYA cancer survivors have higher risks of adverse pregnancy outcomes and lower respiratory tract inflammation in their infants.
Article
Biochemistry & Molecular Biology
Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Itaru Kushima, Nobuhiko Okamoto, Kei Ohashi, Kazuhiko Nakamura, Ryota Hashimoto, Yoko Hiraki, Shuraku Son, Mitsuhiro Kato, Yasunari Sakai, Hitoshi Osaka, Kimiko Deguchi, Toyojiro Matsuishi, Saoko Takeshita, Aviva Fattal-Valevski, Nina Ekhilevitch, Jun Tohyama, Patrick Yap, Wee Teik Keng, Hiroshi Kobayashi, Keiyo Takubo, Takashi Okada, Shinji Saitoh, Yuka Yasuda, Toshiya Murai, Kazuyuki Nakamura, Shouichi Ohga, Ayumi Matsumoto, Ken Inoue, Tomoko Saikusa, Tova Hershkovitz, Yu Kobayashi, Mako Morikawa, Aiko Ito, Toshiro Hara, Yota Uno, Chizuru Seiwa, Kanako Ishizuka, Emi Shirahata, Atsushi Fujita, Eriko Koshimizu, Satoko Miyatake, Atsushi Takata, Takeshi Mizuguchi, Norio Ozaki, Naomichi Matsumoto
Summary: Autism spectrum disorder (ASD) is caused by a combination of genetic and environmental factors. By analyzing 405 ASD patients, researchers identified disease-causing single-nucleotide variants (SNVs), small insertions and deletions (indels), and copy number variations (CNVs) for molecular diagnoses. They achieved a molecular diagnosis in 16.3% of the patients and found a higher diagnostic rate in females and in simplex cases compared to multiplex families.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Allergy
Akiko Nakaoka, Takayasu Nomura, Kazuyoshi Ozeki, Tomotaka Suzuki, Shigeru Kusumoto, Shinsuke Iida, Shinji Saitoh
Summary: This article reports two cases of transplant-acquired food allergy (TAFA) after liver transplantation and cord blood transplantation. It is the first report of patients reacquiring food allergy by resuming daily consumption after a negative oral food challenge.
ALLERGY ASTHMA AND CLINICAL IMMUNOLOGY
(2023)
Article
Pediatrics
Aya Yoshida, Kayo Kaneko, Kohei Aoyama, Naoya Yamaguchi, Atsushi Suzuki, Sayaka Kato, Takeshi Ebara, Mayumi Sugiura-Ogasawara, Michihiro Kamijima, Shinji Saitoh
Summary: Later-borns tend to be shorter than first-borns in childhood and adulthood, and this study aimed to investigate the relationship between birth order and growth during the first 4 years of life. The study found that birth order was significantly associated with postnatal growth, with later-borns having lower length Z-scores and higher odds of short stature compared to first-borns having no sibling. This suggests that birth order may be a predisposing factor for short stature in early childhood.
Article
Health Care Sciences & Services
Yuya Shirai, Tadashi Ito, Yuji Ito, Naomichi Matsunaga, Koji Noritake, Nobuhiko Ochi, Hideshi Sugiura
Summary: This study aimed to evaluate muscle oxygen saturation in lower extremity muscles during walking in children, its changes with age, and the relationship between the physiological cost index. Results showed that changes in muscle oxygen saturation were greater in the lower leg muscles, particularly the tibialis anterior and medial head of the gastrocnemius. The physiological cost index was significantly correlated with changes in muscle oxygen saturation in the tibialis anterior, suggesting a potential influence on walking efficiency.