Review
Medicine, Research & Experimental
Fan Shuen Tseng, Joel Qi Xuan Foo, Aaron Shengting Mai, Eng-King Tan
Summary: Multiple system atrophy (MSA) is a neurodegenerative disease characterized by dysautonomia, parkinsonism, cerebellar dysfunction, and corticospinal degeneration. The underlying mechanism involves aberrant alpha-synuclein deposition, mitochondrial dysfunction, oxidative stress, and neuroinflammation. There is also a possible genetic component that contributes to the risk and progression of MSA. Understanding the genetic factors and pathways involved in MSA can provide insights into potential therapeutic targets.
JOURNAL OF TRANSLATIONAL MEDICINE
(2023)
Article
Clinical Neurology
Giulia Giannini, Federica Provini, Ilaria Cani, Annagrazia Cecere, Francesco Mignani, Pietro Guaraldi, Cristian Vincenzo Francesco Di Mirto, Pietro Cortelli, Giovanna Calandra-Buonaura
Summary: This study evaluated the predictive value of stridor treatment in multiple system atrophy (MSA) patients. The results showed that patients treated with tracheostomy had longer survival compared to those treated with CPAP or receiving no treatment. Therefore, a careful multidisciplinary approach is necessary for the management of MSA patients with stridor.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Biochemistry & Molecular Biology
Marie Saitou, Naoki Masuda, Omer Gokcumen
Summary: This study developed a new method to identify potentially adaptive structural variants and discovered hundreds of such variants using various analytical approaches. The study also revealed the associations of these variants with genotype frequency, coding sequences, and GWAS traits, and introduced new evolutionary models to explain the complexity of structural variant evolution.
MOLECULAR BIOLOGY AND EVOLUTION
(2022)
Article
Clinical Neurology
Elif Irem Sarihan, Eduardo Perez-Palma, Lisa-Marie Niestroj, Douglas Loesch, Miguel Inca-Martinez, Andrea R. V. R. Horimoto, Mario Cornejo-Olivas, Luis Torres, Pilar Mazzetti, Carlos Cosentino, Elison Sarapura-Castro, Andrea Rivera-Valdivia, Elena Dieguez, Victor Raggio, Andres Lescano, Vitor Tumas, Vanderci Borges, Henrique B. Ferraz, Carlos R. Rieder, Artur F. Schumacher-Schuh, Bruno L. Santos-Lobato, Carlos Velez-Pardo, Marlene Jimenez-Del-Rio, Francisco Lopera, Sonia Moreno, Pedro Chana-Cuevas, William Fernandez, Gonzalo Arboleda, Humberto Arboleda, Carlos E. Arboleda-Bustos, Dora Yearout, Cyrus P. Zabetian, Timothy A. Thornton, Timothy D. O'Connor, Dennis Lal, Ignacio F. Mata
Summary: Parkinson's disease patients from Latino descent show enrichment of copy number variants affecting known Parkinson's disease genes, with PRKN showing the strongest association. Additionally, 5.6% of early-onset patients carried a copy number variant on PRKN. This study provides insights into the genetic complexity of Parkinson's disease in this understudied population.
MOVEMENT DISORDERS
(2021)
Article
Biochemical Research Methods
Luca Denti, Parsoa Khorsand, Paola Bonizzoni, Fereydoun Hormozdiari, Rayan Chikhi
Summary: Structural variants (SVs) contribute to sequence variability in genomes and are significant in human genomics and precision medicine. However, due to the complexities of the human genome, SV discovery in individuals has been challenging. The introduction of low-error long-read sequencing technologies, such as PacBio HiFi, may provide a solution to these challenges.
Article
Genetics & Heredity
Thomas Eggermann, Florian Kraft, Eva Lausberg, Katrin Ergezinger, Erdmute Kunstmann
Summary: This study identified a family with a 132 bp deletion within the KCNQ1OT1 gene, which is associated with growth retardation when paternally transmitted but results in a normal phenotype when maternally inherited. Comparisons with cases from the literature helped to determine the functional relevance of this microdeletion within the paternal imprinting center 2 affecting the KCNQ1OT1 gene.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Genetics & Heredity
Man Jin Kim, Sungyoung Lee, Hongseok Yun, Sung Im Cho, Boram Kim, Jee-Soo Lee, Jong Hee Chae, Choonghyun Sun, Sung Sup Park, Moon-Woo Seong
Summary: This study developed a novel diagnostic tool, CCR-CNV, for the identification of exonic copy number variations (CNVs) with high confidence. Compared to other well-known CNV tools, CCR-CNV showed higher sensitivity and specificity. However, its low covered region, positive predictive value, and high false discovery rate limit its use in clinical settings. The combined use of CCR-CNV with existing CNV tools improves its performance.
GENETICS IN MEDICINE
(2022)
Article
Biochemical Research Methods
Junping Li, Lin Gao, Yusen Ye
Summary: The researchers developed a control-free method called HiSV for identifying large-scale structural variations from Hi-C samples. HiSV achieved superior accuracy and sensitivity through evaluations on simulated data sets and cancer cell lines, and effectively captured complex SVs. HiSV can also supplement the results of WGS methods.
PLOS COMPUTATIONAL BIOLOGY
(2023)
Article
Biochemical Research Methods
Jixiang Yu, Nanjun Chen, Zetian Zheng, Ming Gao, Ning Liang, Ka-Chun Wong
Summary: The detection of chromothripsis events can be inferred from CNV data using structure learning and a neural network based on Graph Transformer. This proposed method provides a reliable and accurate approach to detect chromothripsis.
Article
Biology
Milovan Suvakov, Arijit Panda, Colin Diesh, Ian Holmes, Alexej Abyzov
Summary: CNVpytor is an extension of CNVnator that improves performance and functionality, allowing for filtering, annotation, and merging of CNV calls across multiple samples. Its modular architecture enables use in shared and cloud environments, and data can be exported to JBrowse for visualization and analysis.
Article
Clinical Neurology
Yi-Chien Yang, Fang-Tzu Chang, Jui-Cheng Chen, Chon-Haw Tsai, Fu-Yu Lin, Ming-Kuei Lu
Summary: The study investigated motor cortical dysfunction in patients with multiple system atrophy using Bereitschaftspotential (BP) recordings, finding significantly reduced late BP amplitudes in these patients. The dysfunction in voluntary movement preparation and activation can be practically evaluated using late BP, representing the cerebello-dentato-thalamo-cortical pathway.
FRONTIERS IN NEUROLOGY
(2021)
Article
Biochemical Research Methods
Melivoia Rapti, Yassine Zouaghi, Jenny Meylan, Emmanuelle Ranza, Stylianos E. Antonarakis, Federico A. Santoni
Summary: CoverageMaster (CoM) is a CNV calling algorithm based on depth-of-coverage maps, capable of accurately detecting and visualizing CNVs of any size, supporting the possibility of replacing probe-based methods with coverage-based approaches.
BRIEFINGS IN BIOINFORMATICS
(2022)
Article
Behavioral Sciences
Hong Zhou, Xia Wang, Di Ma, Yanyan Jiang, Fan Li, Yunchuang Sun, Jing Chen, Wei Sun, Elmar H. Pinkhardt, Bernhard Landwehrmeyer, Albert Ludolph, Lin Zhang, Guiping Zhao, Zhaoxia Wang
Summary: Eye movement tests can help differentiate between PD and MSA, with characteristics such as the presence of hypometria and hypermetria in saccadic eye movement, impaired gain of smooth pursuit movement with catch-up saccades, gaze-evoked nystagmus, square-wave jerks in gaze-holding test, and multiple-step pattern in MGS providing clues to the diagnosis of MSA.
BRAIN AND BEHAVIOR
(2021)
Article
Immunology
Manuela Moraru, Adriana Perez-Portilla, Karima Al-Akioui Sanz, Alfonso Blazquez-Moreno, Antonio Arnaiz-Villena, Hugh T. Reyburn, Carlos Vilches
Summary: Fc gamma receptors (FcγR) are cell-surface glycoproteins that play a role in immune responses. The CNR5 deletion on the FCGR locus can lead to loss and recombination of FCGR genes, potentially affecting immune function. The distribution of FCGR polymorphism shows significant variation in the highlands of Ecuador, with CNR5 deletion being relatively common.
FRONTIERS IN IMMUNOLOGY
(2021)
Review
Clinical Neurology
Lara M. Lange, Paulina Gonzalez-Latapi, Rajasumi Rajalingam, Marina A. J. Tijssen, Darius Ebrahimi-Fakhari, Carolin Gabbert, Christos Ganos, Rhia Ghosh, Kishore R. Kumar, Anthony E. Lang, Malco Rossi, Sterre van Der Veen, Bart van de Warrenburg, Tom Warner, Katja Lohmann, Christine Klein, Connie Marras
Summary: This study presents a new system for naming genetically determined movement disorders and provides an updated list of newly confirmed monogenic causes of movement disorders. The classification of certain genetic conditions has been refined, and a new category of mixed movement disorders has been introduced. These updated lists serve as a valuable resource for clinicians and researchers.
MOVEMENT DISORDERS
(2022)
Article
Cardiac & Cardiovascular Systems
Juliana G. Jorge, Satish R. Raj, Pedro S. Teixeira, Jose A. C. Teixeira, Robert S. Sheldon
Summary: Injuries due to syncope are common in patients with VVS, occurring in 33% of patients with a substantial risk of major injuries, especially in older patients.
Review
Clinical Neurology
Satish R. Raj, Amy C. Arnold, Alexandru Barboi, Victoria E. Claydon, Jacqueline K. Limberg, Vera-Ellen M. Lucci, Mohammed Numan, Amanda Peltier, Howard Snapper, Steven Vernino
Summary: COVID-19 has had a devastating impact on the health and economy of human civilization, with many patients developing chronic symptoms such as POTS, known as Long-COVID. Managing Long-COVID POTS will require a significant infusion of healthcare resources and research investment. The American Autonomic Society outlines the scope of the problem and the necessary resources and research to properly address the impact of Long-COVID POTS.
CLINICAL AUTONOMIC RESEARCH
(2021)
Letter
Clinical Neurology
Kate M. Bourne, Lauren E. Stiles, Satish R. Raj, Cyndya A. Shibao
CLINICAL AUTONOMIC RESEARCH
(2022)
Review
Cardiac & Cardiovascular Systems
Lucy Y. Lei, Satish R. Raj, Robert S. Sheldon
Summary: This study conducted a systematic review and meta-analysis of published studies to evaluate the efficacy of midodrine in preventing syncope in patients with recurrent VVS. The results showed that midodrine can significantly reduce the likelihood of positive head-up-tilt test outcomes and has a modest effect in randomized, double-blinded clinical trials.
Review
Gastroenterology & Hepatology
William Lee, Bert Vandenberk, Satish R. Raj, Samuel S. Lee
Summary: Approximately 30% to 70% of patients with cirrhosis experience prolongation of the QT interval, which may be associated with the severity of liver disease and increased mortality. External risk factors include medication, bradycardia, and electrolyte abnormalities. Risk can be reduced through electrocardiogram monitoring and avoidance of drug interactions and electrolyte disturbances.
Article
Physiology
Jacquie Baker, Mohammad A. Safarzadeh, Anthony V. Incognito, Nicholas G. Jendzjowsky, Glen E. Foster, Jordan D. Bird, Satish R. Raj, Trevor A. Day, Caroline A. Rickards, Natalia Zubieta-DeUrioste, Usman Alim, Richard J. A. Wilson
Summary: Cerebral hypoxia is a serious consequence of cardiorespiratory illnesses. Measuring the retinal microvasculature provides insights into cerebral microvasculature and potential implications for critical illness. This study demonstrates dynamic regulation of the retina during rapid ascent and prolonged exposure to high altitude, as well as sex-specific differences in retinal microvasculature. The ability to assess intact microvasculature contiguous with the brain has important research and clinical applications.
JOURNAL OF APPLIED PHYSIOLOGY
(2022)
Letter
Clinical Neurology
Kate M. Bourne, Vidya Raj, Robert S. Sheldon, Satish R. Raj
Article
Cardiac & Cardiovascular Systems
Juliette Hall, Kate M. Bourne, Steven Vernino, Viktor Hamrefors, Isabella Kharraziha, Jan Nilsson, Robert S. Sheldon, Artur Fedorowski, Satish R. Raj
Summary: This study compared concentrations of autoantibodies to cardiovascular G protein-coupled receptors between patients with POTS and healthy controls, and found no significant differences. These findings suggest that these tests are not useful for establishing the role of autoimmunity in POTS.
Letter
Cardiac & Cardiovascular Systems
Mitchell G. Miglis, Lauren E. Stiles, Satish R. Raj
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2022)
Review
Gastroenterology & Hepatology
Bert Vandenberk, Mario H. H. Altieri, Hongqun Liu, Satish R. R. Raj, Samuel S. S. Lee
Summary: This article provides a comprehensive overview of the diagnosis, pathophysiology, and management of atrial fibrillation (AF) in patients with cirrhosis. It highlights the increased prevalence of AF in cirrhosis patients and the associated adverse outcomes, emphasizing the need for careful consideration of treatment options.
ALIMENTARY PHARMACOLOGY & THERAPEUTICS
(2023)
Article
Cardiac & Cardiovascular Systems
Kevin O'Gallagher, Ryan E. Rosentreter, Jan Elaine Soriano, Ali Roomi, Saqib Saleem, Tyler Lam, Roman Roy, Grant R. Gordon, Satish R. Raj, Philip J. Chowienczyk, Ajay M. Shah, Aaron A. Phillips
Summary: This study investigates the effects of nNOS inhibition on neurovascular coupling (NVC) in humans. It found that nNOS plays a role in dynamic cerebral blood flow control in healthy adults, particularly the rapidity of the NVC response to visual stimulation.
CIRCULATION RESEARCH
(2022)
Review
Clinical Neurology
Shaun I. Ranada, Lucy Y. Lei, Jacquie Baker, Richard Wilson, Aaron A. Phillips, Robert S. Sheldon, Satish R. Raj
CLINICAL AUTONOMIC RESEARCH
(2023)
Article
Cardiac & Cardiovascular Systems
Bert Vandenberk, Satish R. Raj
Summary: Remote monitoring (RM) of cardiac implantable electronic devices (CIEDs) is crucial for patient follow-up. Recent advancements in RM have shown numerous clinical benefits, including improved survival, early detection of actionable events, and more efficient healthcare utilization. However, the increasing workload and challenges posed by the growing number of CIEDs call for adapted healthcare policies to optimize RM management.
CURRENT CARDIOVASCULAR RISK REPORTS
(2023)
Review
Cardiac & Cardiovascular Systems
Oyebimbola A. Oyewunmi, Lucy Y. Lei, Jill K. H. Laurin, Carlos A. Morillo, Robert S. Sheldon, Satish R. Raj
Summary: Rapid water intake can increase systolic and diastolic blood pressure in patients with orthostatic hypotension, with a slight decrease in heart rate. Healthy individuals also experience similar but milder effects. However, patients with postural tachycardia syndrome do not show these changes in seated or supine positions.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)
Article
Clinical Neurology
Meredith Bryarly, Satish R. Raj, Lauren Phillips, Linda S. Hynan, Luis E. Okamoto, Amy C. Arnold, Sachin Y. Paranjape, Megan Vernino, Bonnie K. Black, Steven Vernino
Summary: The prevalence of gAChR antibodies did not differ between patients with postural tachycardia syndrome (POTS) and healthy controls, and low levels of gAChR antibodies were not clinically significant in POTS.
NEUROLOGY-CLINICAL PRACTICE
(2021)