Article
Clinical Neurology
Yann Le Guen, Valerio Napolioni, Michael E. Belloy, Eric Yu, Lynne Krohn, Jennifer A. Ruskey, Ziv Gan-Or, Gabriel Kennedy, Sarah J. Eger, Michael D. Greicius
Summary: This study aimed to identify genetic variants on the X-chromosome associated with Parkinson disease (PD) risk. In the discovery meta-analysis, two genome-wide significant loci were identified, with one locus being replicated in an independent PD dataset and showing concordant effects in its association with putamen volume. These results support a role for ribosomal proteins in PD pathogenesis and indicate the contribution of the X-chromosome to PD genetic risk.
ANNALS OF NEUROLOGY
(2021)
Article
Clinical Neurology
Jairo Ramos, Laura J. Caywood, Michael B. Prough, Jason E. Clouse, Sharlene D. Herington, Susan H. Slifer, M. Denise Fuzzell, Sarada L. Fuzzell, Sherri D. Hochstetler, Kristy L. Miskimen, Leighanne R. Main, Michael D. Osterman, Andrew F. Zaman, Patrice L. Whitehead, Larry D. Adams, Renee A. Laux, Yeunjoo E. Song, Tatiana M. Foroud, Richard P. Mayeux, St George-Hyslop Peter, Paula K. Ogrocki, Alan J. Lerner, Jeffery M. Vance, Michael L. Cuccaro, Jonathan L. Haines, Margaret A. Pericak-Vance, William K. Scott
Summary: Studies of cognitive impairment in Amish communities have found that some siblings include individuals with cognitive impairment and individuals with normal cognitive function. It has been discovered that individuals with normal cognitive function may carry protective alleles delaying the age at onset of cognitive impairment.
ALZHEIMERS & DEMENTIA
(2023)
Article
Genetics & Heredity
Sheng-Jia Lin, Barbara Vona, Patricia G. Barbalho, Rauan Kaiyrzhanov, Reza Maroofian, Cassidy Petree, Mariasavina Severino, Valentina Stanley, Pratishtha Varshney, Paulina Bahena, Fatema Alzahrani, Amal Alhashem, Alistair T. Pagnamenta, Gudrun Aubertin, Juvianee I. Estrada-Veras, Hector Adrian Diaz Hernandez, Neda Mazaheri, Andrea Oza, Jenny Thies, Deborah L. Renaud, Sanmati Dugad, Jennifer McEvoy, Tipu Sultan, Lynn S. Pais, Brahim Tabarki, Daniel Villalobos-Ramirez, Aboulfazl Rad, Hamid Galehdari, Farah Ashrafzadeh, Afsaneh Sahebzamani, Kolsoum Saeidi, Erin Torti, Houda Z. Elloumi, Sara Mora, Timothy B. Palculict, Hui Yang, Jonathan D. Wren, Ben Fowler, Manali Joshi, Martine Behra, Shawn M. Burgess, Swapan K. Nath, Michael G. Hanna, Margaret Kenna, J. Lawrence Merritt, Henry Houlden, Ehsan Ghayoor Karimiani, Maha S. Zaki, Thomas Haaf, Fowzan S. Alkuraya, Joseph G. Gleeson, Gaurav K. Varshney
Summary: Pathogenic variants in Lysyl-tRNA synthetase 1 (KARS1) have been increasingly recognized as a cause of early-onset complex neurological phenotypes. Through international collaboration, 22 affected individuals from 16 unrelated families with biallelic likely pathogenic or pathogenic KARS1 variants were identified. Loss-of-function alleles in zebrafish were generated to mimic key disease phenotypes. The study delineates the clinical spectrum associated with KARS1 defects and suggests potential therapeutic targets related to p53 signaling components.
GENETICS IN MEDICINE
(2021)
Article
Respiratory System
Aabida Saferali, Dandi Qiao, Wonji Kim, Karen Raraigh, Hara Levy, Alejandro A. Diaz, Garry R. Cutting, Michael H. Cho, Craig P. Hersh
Summary: This study found that smokers who carry one deleterious CFTR variant have higher rates of chronic bronchitis, while presence of two CFTR variants may be associated with COPD. These results indicate that genetically mediated reduction in CFTR function contributes to COPD related phenotypes, in particular chronic bronchitis.
EUROPEAN RESPIRATORY JOURNAL
(2022)
Article
Respiratory System
Haruhiko Furusawa, Anna L. Peljto, Avram D. Walts, Jonathan Cardwell, Philip L. Molyneaux, Joyce S. Lee, Evans R. Fernandez Perez, Paul J. Wolters, Ivana Yang, David A. Schwartz
Summary: A study found that a subset of patients with hypersensitivity pneumonitis (HP) develop lung fibrosis that is clinically similar to idiopathic pulmonary fibrosis (IPF). The study also identified certain genetic variants that were significantly associated with fibrotic HP, indicating a shared etiology and pathogenesis between fibrotic HP and IPF.
Article
Neurosciences
Xiao-Rong Liu, Ting-Ting Ye, Wen-Jun Zhang, Xuan Guo, Jie Wang, Shao-Ping Huang, Long-Shan Xie, Xing-Wang Song, Wei-Wen Deng, Bing-Mei Li, Na He, Qian-Yi Wu, Min-Zhi Zhuang, Meng Xu, Yi-Wu Shi, Tao Su, Yong-Hong Yi, Wei-Ping Liao
Summary: The study identified the potential involvement of CHD4 gene in the pathogenesis of childhood idiopathic epilepsy, with certain mutations affecting specific molecular sub-regions leading to phenotypic variations.
CNS NEUROSCIENCE & THERAPEUTICS
(2021)
Article
Biochemistry & Molecular Biology
Rodrigo R. Nieto, Hernan Silva, Alejandra Armijo, Ruben Nachar, Alfonso Gonzalez, Carmen Paz Castaneda, Cristian Montes, Manuel Kukuljan
Summary: Despite the importance of cognitive symptoms in schizophrenia, not every patient experiences significant cognitive deficits. This study investigated the relationship between brain-derived neurotrophic factor (BDNF) and cognitive functioning in two subgroups of schizophrenic patients. The results showed a significant positive correlation between plasma BDNF levels and cognitive deficits in a subgroup of patients, suggesting a role for BDNF in cognitive functioning in schizophrenics with cognitive deficits, but not in those with normal cognitive status.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Medicine, General & Internal
Emily Rieder, Jiang Li, Juan L. Rodriguez-Flores, Muhammad Taimur Malik, Vida Abedi, Ramin Zand
Summary: This study suggests a possible association between NOTCH3 cysteine-altering variants and autoimmune conditions. Participants with these variants showed an overall increase in inflammatory markers, indicating a potential link between these gene variants and autoimmune diseases.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Clinical Neurology
Mengfan Li, Hairong Sun, Tengqun Shen, Song Xue, Yang Zhao, Bing Leng, Jinbiao Zhang, Zhenguang Li, Zhangyong Xia
Summary: This study investigated the relationship between serum cyclophilin A (CyPA) and matrix metalloproteinase-9 (MMP-9) levels and mild cognitive impairment (MCI) in patients with obstructive sleep apnea (OSA). The results showed that increased serum levels of CyPA and MMP-9 are associated with MCI in OSA patients and directly related to the severity of cerebral small vessel disease (CSVD) and white matter hyperintensities (WMHs).
Article
Oncology
Evan M. Braunstein, Hang Chen, Felicia Juarez, Fanghan Yang, Lindsay Tao, Igor Makhlin, Donna M. Williams, Shruti Chaturvedi, Aparna Pallavajjala, Theodoros Karantanos, Renan Martin, Elizabeth Wohler, Nara Sobreira, Christopher D. Gocke, Alison R. Moliterno
Summary: Familial clustering of myeloproliferative neoplasms (MPN) is well known, with increased risk among first-degree relatives, and rare germline coding variants in the ERBB2 gene are associated with an increased risk for development of MPN. The ERBB2 gene is likely to contribute to cancer risk in combination with additional risk alleles.
Article
Genetics & Heredity
Juan Li, Yu Yuan, Chaorong Liu, Yuchen Xu, Neng Xiao, Hongyu Long, Zhaohui Luo, Shujuan Meng, Hua Wang, Bo Xiao, Xiao Mao, Lili Long
Summary: Neurodevelopmental disorders (NDD) are complex diseases involving genetic and environmental factors. This study identified novel genes associated with NDDs, specifically the DNAH14 gene, through whole-exome sequencing. The identified variants in DNAH14 were found to be potentially damaging and associated with a range of neurological and developmental phenotypes.
Article
Gastroenterology & Hepatology
Elena Corradini, Elena Buzzetti, Paola Dongiovanni, Stefania Scarlini, Angela Caleffi, Serena Pelusi, Isabella Bernardis, Paolo Ventura, Raffaela Rametta, Elena Tenedini, Enrico Tagliafico, Anna Ludovica Fracanzani, Silvia Fargion, Antonello Pietrangelo, Luca Vittorio Valenti
Summary: This study identified variants in non-HFE iron genes, particularly ceruloplasmin, that are associated with hyperferritinemia and increased hepatic iron storage in patients with NAFLD. Carriers of these variants are more likely to have severe liver fibrosis, suggesting a genetic predisposition to hepatic iron deposition that may contribute to liver disease progression.
JOURNAL OF HEPATOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Daichi Shigemizu, Yuya Asanomi, Shintaro Akiyama, Risa Mitsumori, Shumpei Niida, Kouichi Ozaki
Summary: Alzheimer's disease (AD) is a common neurodegenerative disease among elderly people. Genome-wide association studies (GWAS) have been successful in identifying genetic risk factors, but rare variants with potential large effects have not been thoroughly investigated. By using whole-genome sequencing, researchers identified two rare variants associated with AD and explored the functional mechanism of one variant. Additionally, gene-based association tests revealed other candidate genes related to AD.
MOLECULAR PSYCHIATRY
(2022)
Article
Geriatrics & Gerontology
Marianna Amboni, Carlo Ricciardi, Sofia Cuoco, Leandro Donisi, Antonio Volzone, Gianluca Ricciardelli, Maria Teresa Pellecchia, Gabriella Santangelo, Mario Cesarelli, Paolo Barone
Summary: This study aimed to compare gait patterns in PD-MCI subtypes to verify the association between specific gait features and particular MCI subtypes. The results showed that gait patterns were poorer in PD-MCI patients compared to those without MCI, and multiple-domain PD-MCI and amnestic PD-MCI were associated with worse gait patterns.
FRONTIERS IN AGING NEUROSCIENCE
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Jing Li, Thanh D. Nguyen, Qihao Zhang, Lingfei Guo, Yi Wang
Summary: This study compared the susceptibility values in subcortical gray matter structures of CSVD patients without CMBs, with CMBs, and healthy controls. It found that higher iron deposition burden of CMB lesions in the brain may be a quantitative marker for cognitive decline in patients with CSVD-C.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2022)
Review
Genetics & Heredity
Hidekazu Kato, Hiroki Kimura, Itaru Kushima, Nagahide Takahashi, Branko Aleksic, Norio Ozaki
Summary: Schizophrenia is a complex and chronic psychiatric disorder with a high heritability. Despite the lack of diagnostic tests or biomarkers, genetic research has made significant progress in our understanding of the genetic architecture of schizophrenia, including rare copy number variations (CNVs), rare single-nucleotide variants (SNVs), and common single-nucleotide polymorphisms (SNPs). These genetic variants play crucial roles in the pathogenesis of schizophrenia. New approaches such as CRISPR-based genetics and induced pluripotent stem cell technology can help further study the functional analysis of these variants. These advancements will contribute to the development of pathology-based therapeutics and a better understanding of the pathophysiology of schizophrenia.
JOURNAL OF HUMAN GENETICS
(2023)
Article
Dentistry, Oral Surgery & Medicine
K. Suzuki, N. Nishio, H. Kimura, T. Tokura, S. Kishi, N. Ozaki, Y. Fujimoto, M. Sone
Summary: The aim of this study was to assess the changes in quality of life and psychological distress in patients with tongue cancer undergoing different surgeries. The results showed that patients who underwent total/subtotal glossectomy (TG) had worse general health and social functioning, as well as higher levels of depression, compared to those who underwent extended hemiglossectomy (HG) with free flap transfer. This suggests that patients in the TG group may experience social isolation and psychological distress even 12 months after surgery, while patients in the HG group had similar outcomes to the general population.
INTERNATIONAL JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY
(2023)
Review
Radiology, Nuclear Medicine & Medical Imaging
Maeri Yamamoto, Toshiya Inada
Summary: ADHD is a neurodevelopmental disorder characterized by inattention, hyperactivity, impulsivity, and cognitive dysfunction. PET studies have not identified characteristic findings for diagnosing ADHD, although disturbances in dopamine, serotonin, and norepinephrine functions have been implicated. Previous PET studies have shown altered binding of dopamine markers in the basal ganglia, but no consistent results were observed for dopamine transporters and receptors. PET studies with ligands related to serotonin and norepinephrine pathways have shown unclear clinical significance or low replicability. Further research is needed to determine characteristic findings for diagnosing ADHD, particularly with new active ligands.
JAPANESE JOURNAL OF RADIOLOGY
(2023)
Article
Pharmacology & Pharmacy
Rinako Tanaka, Jingzhu Liao, Kazuhiro Hada, Daisuke Mori, Taku Nagai, Tetsuo Matsuzaki, Toshitaka Nabeshima, Kozo Kaibuchi, Norio Ozaki, Hiroyuki Mizoguchi, Kiyofumi Yamada
Summary: Copy-number variations in the ARHGAP10 gene are associated with schizophrenia. Model mice with double-hit mutations in the Arhgap10 gene exhibit schizophrenia-like symptoms, such as altered spine density and cognitive dysfunction. The study found that the activation of the RhoA/Rho-kinase signaling pathway is involved in these symptoms. Fasudil, a Rho-kinase inhibitor, can ameliorate the symptoms in the model mice.
PHARMACOLOGICAL RESEARCH
(2023)
Letter
Clinical Neurology
Shusei Arafuka, Hirotaka Sekiguchi, Hiroshige Fujishiro, Shuji Iritani, Youta Torii, Chikako Habuchi, Mari Yoshida, Yasushi Iwasaki, Norio Ozaki, Kiyoshi Fujita
PSYCHIATRY AND CLINICAL NEUROSCIENCES
(2023)
Letter
Clinical Neurology
Masahiro Ohgidani, Itaru Kushima, Shogo Inamine, Sota Kyuragi, Noriaki Sagata, Tomohiro Nakao, Shigenobu Kanba, Norio Ozaki, Takahiro A. Kato
PSYCHIATRY AND CLINICAL NEUROSCIENCES
(2023)
Review
Geriatrics & Gerontology
Masako Tachibana, Toshiya Inada
Summary: Delirium is a serious clinical problem that has negative impacts on hospital costs, patient prognosis, and mortality rates. However, the understanding of delirium remains limited and effective treatments are lacking. This review investigates the effects of delirium on mortality, institutionalization, and dementia in different situations, aiming to clarify the seriousness of its prognosis and provide important guidance for clinical practice and future research.
Letter
Infectious Diseases
Shun Ito, Masahiro Banno, Yuji Okazaki
INFECTIOUS DISEASES AND THERAPY
(2023)
Editorial Material
Clinical Neurology
Norio Ozaki, Teiji Kimura, Tetsuro Kikuchi, Takeo Ishiyama
PSYCHIATRY AND CLINICAL NEUROSCIENCES
(2023)
Article
Mathematical & Computational Biology
Yuki Kataoka, Shunsuke Taito, Norio Yamamoto, Ryuhei So, Yusuke Tsutsumi, Keisuke Anan, Masahiro Banno, Yasushi Tsujimoto, Yoshitaka Wada, Shintaro Sagami, Hiraku Tsujimoto, Takashi Nihashi, Motoki Takeuchi, Teruhiko Terasawa, Masahiro Iguchi, Junji Kumasawa, Takumi Ichikawa, Ryuki Furukawa, Jun Yamabe, Toshi A. Furukawa
Summary: Currently, there is a lack of abstract classifiers for new diagnostic test accuracy systematic reviews. This study aimed to develop machine-learning-based abstract classifiers through an open competition using a dataset of abstracts obtained from database searches. After receiving 13,774 submissions from 1429 teams or individuals, the top classifier achieved a Fbeta score of 0.4036 and a recall of 0.2352 in the external validation. However, further studies are needed to update and validate classifiers with data from other clinical areas.
RESEARCH SYNTHESIS METHODS
(2023)
Article
Neurosciences
Hiroki Kimura, Itaru Kushima, Masahiro Banno, Toshiya Inada, Akira Yoshimi, Branko Aleksic, Norio Ozaki
Summary: This article reports detailed clinical cases of four patients with schizophrenia and 16p13.11 duplication, with one patient having treatment-resistant schizophrenia and an additional pathogenic rare CNV. Two of the four patients had potential environmental risk factors. The results suggest that a genetic cohort study would be useful in understanding the variable expressivity of 16p13.11 duplication and elucidating the pathophysiology of schizophrenia.
NEUROPSYCHOPHARMACOLOGY REPORTS
(2023)
Editorial Material
Clinical Neurology
Seiko Miyata, Kunihiro Iwamoto, Norio Ozaki
PSYCHIATRY AND CLINICAL NEUROSCIENCES
(2023)
Article
Neurosciences
Tzuyao Lo, Itaru Kushima, Hiroki Kimura, Branko Aleksic, Takashi Okada, Hidekazu Kato, Toshiya Inada, Yoshihiro Nawa, Youta Torii, Maeri Yamamoto, Ryo Kimura, Yasuko Funabiki, Hirotaka Kosaka, Shusuke Numata, Kiyoto Kasai, Tsukasa Sasaki, Shigeru Yokoyama, Toshio Munesue, Ryota Hashimoto, Yuka Yasuda, Michiko Fujimoto, Masahide Usami, Masanari Itokawa, Makoto Arai, Kazutaka Ohi, Toshiyuki Someya, Yuichiro Watanabe, Jun Egawa, Tsutomu Takahashi, Michio Suzuki, Hidenori Yamasue, Nakao Iwata, Masashi Ikeda, Norio Ozaki
Summary: The study examined the association between CNVs in PRKN and SCZ and ASD. The findings suggest that monoallelic CNVs in PRKN do not confer a significant risk for SCZ or ASD.
NEUROPSYCHOPHARMACOLOGY REPORTS
(2023)
Meeting Abstract
Clinical Neurology
Seiko Miyata, Kunihiro Iwamoto, Ippei Okada, Akihiro Fujimoto, Yuki Kogo, Manabu Amano, Nao Matsuyama, Norio Ozaki
Article
Optics
G. Cristoforetti, P. Koester, S. Atzeni, D. Batani, S. Fujioka, Y. Hironaka, S. Huller, T. Idesaka, K. Katagiri, K. Kawasaki, R. Kodama, D. Mancelli, Ph. Nicolai, N. Ozaki, A. Schiavi, K. Shigemori, R. Takizawa, T. Tamagawa, D. Tanaka, A. Tentori, Y. Umeda, A. Yogo, L. A. Gizzi
Summary: The interaction between laser and plasma as well as the generation of hot electrons were studied in an experiment relevant to direct-drive inertial confinement fusion. High-energy electrons with temperatures of 20-50 keV were mainly produced by the damping of electron plasma waves driven by two-plasmon decay (TPD). Stimulated Raman scattering (SRS) was observed in a near-threshold growth regime and described by an analytical model, indicating a more vigorous growth driven by multiple beams compared to single-beam laser intensity.
HIGH POWER LASER SCIENCE AND ENGINEERING
(2023)
