Article
Multidisciplinary Sciences
Huili Xue, Aili Yu, Na Lin, Xuemei Chen, Min Lin, Yan Wang, Hailong Huang, Liangpu Xu
Summary: The etiopathogenesis of fetal ventriculomegaly is not well understood. This study investigated the correlations between fetal ventriculomegaly and chromosome abnormalities, finding higher detection rates of clinically significant CNVs in non-isolated ventriculomegaly compared to isolated cases. Additionally, SNP arrays were found to effectively identify CNVs and increase the abnormal chromosomal detection rate, particularly in cases of ventriculomegaly accompanied by CNS anomalies.
SCIENTIFIC REPORTS
(2021)
Article
Genetics & Heredity
Haiwei Wang, Bin Liang, Yan Wang, Hailong Huang, Na Lin, Liangpu Xu
Summary: This retrospective analysis examined the types and characteristics of sex chromosomal abnormalities in 186 fetuses in Fujian Province, China. The study found various abnormalities, such as Turner syndrome, triple X syndrome, Klinefelter syndrome, and XYY syndrome, as well as mosaic variants and large-scale deletions/duplications. The use of single nucleotide polymorphism (SNP) array analysis was shown to be important for prenatal diagnosis of sex chromosomal abnormalities.
FRONTIERS IN GENETICS
(2022)
Article
Neurosciences
Kamila Szecowka, Blazej Misiak, Izabela Laczmanska, Dorota Frydecka, Ahmed A. Moustafa
Summary: Schizophrenia is a neurodevelopmental disorder influenced by genetic and environmental factors. Understanding the genetic liability contributing to schizophrenia could lead to improved therapy and new treatment methods. Research focuses on genetic variants, such as copy number variations (CNVs) or single-nucleotide variants (SNVs). Certain CNVs, such as those associated with 22q11.2 microdeletion syndrome or 1q21.1 microduplication/microdeletion syndrome, increase the risk of developing schizophrenia. This article provides a unifying framework linking these CNVs and associated genetic disorders to schizophrenia and its various neural and behavioral abnormalities.
MOLECULAR NEUROBIOLOGY
(2023)
Article
Microbiology
Veronica Thorn, Jianping Xu
Summary: This study investigated the variations of mitochondrial genomes in the global population of A. fumigatus. The results revealed evidence of organelle dynamics, genetic differentiation, recombination, and both widespread and localized clonal expansion of the mitogenomes.
Review
Genetics & Heredity
Rong-hua Song, Chao-qun Gao, Jing Zhao, Jin-an Zhang
Summary: Autoimmune diseases may have common mechanisms related to immune tolerance defects. Genetic variations like copy number variations (CNVs) are associated with these diseases and play a role in potential therapeutic responses. DNA CNVs are common in autoimmune diseases, but the distribution differs in different ethnic groups and diseases, suggesting distinct phenotypes and genetic backgrounds. Further research can provide new insights into this issue.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Meiying Cai, Na Lin, Xuemei Chen, Meimei Fu, Nan Guo, Liangpu Xu, Hailong Huang
Summary: This study aimed to evaluate the genetic etiology and clinical value of chromosomal abnormalities and copy number variations (CNVs) in fetuses with ultrasonic soft markers. It found a considerable proportion of chromosomal abnormalities and abnormal CNVs in these fetuses, with the SNP array fully complementing conventional karyotyping and improving the detection rate of chromosomal abnormalities.
BMC MEDICAL GENOMICS
(2021)
Article
Clinical Neurology
Eric Yu, Uladzislau Rudakou, Lynne Krohn, Kheireddin Mufti, Jennifer A. Ruskey, Farnaz Asayesh, Mehrdad A. Estiar, Dan Spiegelman, Matthew Surface, Stanley Fahn, Cheryl H. Waters, Lior Greenbaum, Alberto J. Espay, Yves Dauvilliers, Nicolas Dupre, Guy A. Rouleau, Sharon Hassin-Baer, Edward A. Fon, Roy N. Alcalay, Ziv Gan-Or
Summary: The study found no association between heterozygous single-nucleotide variants and CNVs in PRKN and the risk of PD. Pathogenic and likely-pathogenic variants were less common among PD patients than controls, with no associations found with age at onset.
MOVEMENT DISORDERS
(2021)
Article
Oncology
Yang Wang, Kaixiang Zhou, Xiangxu Wang, Yang Liu, Dongnan Guo, Zhenyuan Bian, Liping Su, Kun Liu, Xiwen Gu, Xu Guo, Lin Wang, Hongmei Zhang, Kaishan Tao, Jinliang Xing
Summary: This study found that CNVs in cfDNA were correlated with clinical outcomes in HCC patients undergoing radical treatments. Three genome-wide CNV indicators were associated with poorer OS and RFS, while high-frequency CNVs at chromosomal-arm level could predict HCC prognosis. A bin-level risk score was also constructed to enhance the prognostic ability of CNVs.
Article
Genetics & Heredity
Ruixue Zhang, Lu Cao, Weiwei Chen, Huiyao Ge, Xia Hu, Zhuo Li, Yirui Wang, Wencheng Fan, Liang Yong, Yafen Yu, Yiwen Mao, Qi Zhen, Hong Liu, Furen Zhang, Liangdan Sun
Summary: This study assessed the association between HLA CNV and leprosy susceptibility in a Northern Han Chinese population for the first time, identifying four independent variants related to leprosy risk. Fine mapping of the MHC region in this population provided evidence for the contribution of HLA to leprosy susceptibility.
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
Chiara Vischioni, Fabio Bove, Matteo De Chiara, Federica Mandreoli, Riccardo Martoglia, Valentino Pisi, Gianni Liti, Cristian Taccioli
Summary: This study identified novel gene targets linked to tumor predisposition and found that miRNA copy number patterns are associated with cancer progression and susceptibility.
Article
Biochemical Research Methods
Jeerthi Kannan, Liza Mathews, Zhijie Wu, Neal S. Young, Shouguo Gao
Summary: CAISC is an R package that integrates CNV and SNV data from scRNA-seq to identify clonal clusters with high accuracy. It allows for accurate examination of expression changes between subclones.
BMC BIOINFORMATICS
(2022)
Review
Cardiac & Cardiovascular Systems
Johanna Ernst, Hannelore Ehrenreich, Karin Weissenborn, Gerrit M. Grosse
Summary: In this study, researchers identified the genetic variants associated with cryptogenic strokes by screening relevant research. However, the associations were limited to a few polymorphisms. Future studies should address the limitation of low granularity in clinical data to advance the promising approach of elucidating stroke causes at the genetic level.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)
Article
Cell Biology
Shih-Feng Liu, Hui-Chuan Chang, Yu-Ping Chang, Ho-Chang Kuo, Yuh-Chyn Tsai
Summary: IL13 polymorphism is associated with chronic obstructive pulmonary disease (COPD), which is characterized by fewer copies of mitochondrial DNA in COPD patients. The IL13 polymorphism affects mitochondrial mutation and recombination.
Article
Biotechnology & Applied Microbiology
Bo-Han Hou, Yi-Heng Tsai, Ming-Hau Chiang, Shu-Ming Tsao, Shih-Hung Huang, Chih-Ping Chao, Ho-Ming Chen
Summary: This study demonstrates that reliable SNV markers of tissue culture-derived and propagated banana cultivars with a triploid genome can be developed through RNA-seq data analysis. Moreover, the analysis of sequence heterozygosity can uncover chromosomal deletions and chimerism in banana somaclonal variants. The markers obtained from this study will assist with the identification of TBRI Cavendish somaclonal variants for the quality control of tissue culture propagation, and the protection of breeders' rights.
Article
Oncology
Zhao Cai, Huang Chen, Jingqiao Bai, Yang Zheng, Jianhui Ma, Xiongwei Cai, Yu Liu, Kaitai Zhang, Jianzhong Shou, Yanning Gao
Summary: This study identified CNVs of CEP63, FOSL2, and PAQR6 with high aberration frequencies in BC tumors, which were closely associated with disease progression and could serve as promising signatures for prognosis of BC.
FRONTIERS IN ONCOLOGY
(2021)
Article
Clinical Neurology
Yunju Yang, Maria J. Knol, Ruiqi Wang, Aniket Mishra, Dan Liu, Michelle Luciano, Alexander Teumer, Nicola Armstrong, Joshua C. Bis, Min A. Jhun, Shuo Li, Hieab H. H. Adams, Nasir Ahmad Aziz, Mark E. Bastin, Mathieu Bourgey, Jennifer A. Smith, Stefan Frenzel, Rebecca F. Gottesman, Norbert Hosten, Lifang Hou, Sharon L. R. Kardia, Valerie Lohner, Pascale Marquis, Susana Munoz Maniega, Claudia L. Satizabal, Farzaneh A. Sorond, Maria C. Valdes Hernandez, Cornelia M. van Duijn, Meike W. Vernooij, Katharina Wittfeld, Qiong Yang, Wei Zhao, Eric Boerwinkle, Daniel Levy, Ian J. Deary, Jiyang Jiang, Karen A. Mather, Thomas H. Mosley, Bruce M. Psaty, Perminder S. Sachdev, Jennifer A. Smith, Nona Sotoodehnia, Charles S. DeCarli, Monique M. B. Breteler, M. Arfan Ikram, Hans J. Grabe, Joanna Wardlaw, W. T. Longstreth, Lenore J. Launer, Sudha Seshadri, Stephanie Debette, Myriam Fornage
Summary: This study investigates the association between epigenetic changes and white matter hyperintensities in adults. The findings suggest that blood-brain barrier dysfunction and the immune response are related to white matter hyperintensity burden, and antihyperlipidemic agents might be a potential treatment.
Article
Clinical Neurology
Maria Giulia Mosconi, Giorgio Maraziti, Maurizio Paciaroni, Michela Giustozzi, Maria Cristina Vedovati, Giulio Bogliari, Chiara Urbini, Laura Traballi, Valeria Caso
Summary: Compared with recommended doses, nonrecommended low doses of DOACs increase the risk of ischemic events without decreasing the risk of bleeding. For Asians, the efficacy of DOACs seemed preserved despite the nonrecommended low-dose prescription. Clinicians should carefully adhere to recommended DOAC prescription advice in managing NVAF patients.
EUROPEAN NEUROLOGY
(2023)
Article
Clinical Neurology
Alessia Giossi, Silvia Clara Giliani, Massimo Gamba, Paola Toniati, Mauro Magoni, Alessandro Pezzini
Summary: This article describes a case of an adult patient with recurrent acute ischemic strokes due to cerebral small vessel disease (cSVD), without any other phenotypic manifestations. Targeted next-generation sequencing detected a pathogenic missense variant in the ADA2 gene (c.139G > A, p.G47R), consistent with the diagnosis of adenosine deaminase 2 deficiency syndrome. The findings highlight the diagnostic potential of next-generation sequencing for identifying genetic causes in stroke patients with atypical presentations of cSVD.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Editorial Material
Clinical Neurology
Radu Tanasescu, Didier Leys
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Joao Pedro Marto, Davide N. Strambo, George Ntaios, Thanh Nguyen, Roman Herzig, Anna Czlonkowska, Jelle Demeestere, Ossama Yassin Mansour, Alexander Salerno, Susanne W. Wegener, Philipp Baumgartner, Carlo Cereda, Giovanni Bianco, Morin Beyeler, Marcel Arnold, Emmanuel Carrera, Paolo Machi, Valerian Altersberger, Leo Bonati, Henrik Gensicke, Manuel Bolognese, Nils Peters, Stephan Wetzel, Marta Magrico, Joao Nuno Ramos, Joao Sargento-Freitas, Rita Machado, Carolina Maia, Egidio Machado, Ana Paiva Nunes, Patricia Ferreira, Teresa Pinho e Melo, Mariana Carvalho Dias, Andre Paula, Manuel Alberto Correia, Pedro Castro, Elsa Azevedo, Luis Albuquerque, Jose Nuno Alves, Joana Ferreira-Pinto, Torcato Meira, Liliana Pereira, Miguel Rodrigues, Andre Pinho Araujo, Marta Rodrigues, Mariana Rocha, Angelo Pereira-Fonseca, Luis Ribeiro, Ricardo Varela, Sofia Malheiro, Manuel Cappellari, Cecilia Zivelonghi, Giulia Sajeva, Andrea Zini, Mauro Gentile, Stefano Forlivesi, Ludovica Migliaccio, Maria Sessa, Sara La Gioia, Alessandro Pezzini, Davide Sangalli, Marialuisa Zedde, Rosario Pascarella, Carlo Ferrarese, Simone Beretta, Susanna Diamanti, Ghil Schwarz, Giovanni Frisullo, Simona Marcheselli, Pierre Seners, Candice Sabben, Simon Escalard, Michel Piotin, Benjamin Maier, Guillaume Charbonnier, Fabrice Vuillier, Loic R. Legris, Pauline Cuisenier, Francesca Vodret, Gaultier Marnat, Jean-Sebastien Liegey, Igor Sibon, Fabian Flottmann, Gabriel O. Broocks, Nils-Ole Gloyer, Ferdinand Bohmann, Jan Hendrik J. Schaefer, Christian Nolte, Heinrich Audebert, Eberhard Siebert, Marek Sykora, Wilfried Lang, Julia Ferrari, Lukas Mayer-Suess, Michael Knoflach, Elke Ruth J. Gizewski, Jeffrey M. Stolp, Lotte Stolze, Jonathan Coutinho, Paul Nederkoorn, Ido van den Wijngaard, Joke De Meris, Robin Lemmens, Sylvie De Raedt, Fenne Vandervorst, Matthieu Pierre Rutgers, Antoine Guilmot, Anne Dusart, Flavio Bellante, Patricia Calleja-Castano, Fernando Ostos, Guillermo Gonzalez-Ortega, Paloma Martin-Jimenez, Sebastian Garcia-Madrona, Antonio Cruz-Culebras, Rocio Vera, Maria Consuelo Matute, Blanca Fuentes, Maria Alonso-de-Lecinana, Ricardo Rigual, Exuperio Diez-Tejedor, Soledad Perez-Sanchez, Joan Montaner, Fernando Diaz-Otero, Natalia Perez-de-la-Ossa, Belen Flores-Pina, Lucia Munoz-Narbona, Angel Chamorro, Alejandro Rodriguez-Vazquez, Arturo Renu, Oscar Ayo-Martin, Francisco Hernandez-Fernandez, Tomas Segura, Herbert Tejada-Meza, Daniel Sagarra-Mur, Marta Serrano-Ponz, Thant Hlaing, Isaiah See, Robert Simister, David Werring, Espen Saxhaug Kristoffersen, Annika Nordanstig, Katarina Jood, Alexandros Rentzos, Libor Simunek, Dagmar Krajickova, Antonin Krajina, Robert Mikulik, Martina Cvikova, Jan Vinklarek, David Skoloudik, Martin Roubec, Eva Hurtikova, Rostislav Hruby, Svatopluk Ostry, Ondrej Skoda, Marek Pernicka, Lubomir Jurak, Zuzana Eichlova, Martin Jira, Martin Kovar, Michal Pansky, Pavel Mencl, Hana Palouskova, Ales Tomek, Petr Jansky, Anna Olserova, Martin Sramek, Roman Havlicek, Petr Maly, Lukas Trakal, Jan Fiksa, Matej Slovak, Michal Adam Karlinski, Maciej Nowak, Halina Sienkiewicz-Jarosz, Anna Bochynska, Pawel Wrona, Tomasz Homa, Katarzyna Sawczynska, Agnieszka Slowik, Ewa Wlodarczyk, Marcin Wiacek, Izabella Tomaszewska-Lampart, Bartosz Sieczkowski, Halina Bartosik-Psujek, Marta Bilik, Anna Bandzarewicz, Malgorzata Dorobek, Justyna Zielinska-Turek, Marta Nowakowska-Kotas, Krystian Obara, Pawel Urbanowski, Slawomir Budrewicz, Maciej Guzinski, Milena Switonska, Iwona Rutkowska, Paulina M. Sobieszak-Skura, Beata Labuz-Roszak, Aleksander Debiec, Jacek Staszewski, Adam Stepien, Jacek Zwiernik, Grzegorz Wasilewski, Cristina Tiu, Elena Oana Terecoasa, Razvan Alexandru Radu, Anca Negrila, Bogdan Dorobat, Cristina Panea, Vlad Tiu, Simona Petrescu, Atilla Ozdemir, Mostafa Mahmoud, Hussam El-Samahy, Hazem Abdelkhalek, Jasem Al-Hashel, Ismail Ibrahim Ismail, Athari Salmeen, Abdoreza Ghoreishi, Sergiu Ionut Sabetay, Hana Gross, Piers Klein, Mohamad Abdalkader, Pascal Jabbour, Kareem El Naamani, Stavropoula Tjoumakaris, Rawad A. Abbas, Ghada Mohamed, Alex Chebl, Jiangyong Min, Majesta P. Hovingh, Jenney Tsai, Muhib Khan, Krishna Nalleballe, Sanjeeva Onteddu, Hesham Masoud, Mina Michael, Navreet Kaur, Laith G. Maali, Michael Abraham, Priyank Khandelwal, Ivo Bach, Melody Ong, Denis M. Babici, Ayaz Khawaja, Maryam Hakemi, Kumar Rajamani, Vanessa Cano-Nigenda, Antonio Arauz, Pablo Amaya, Natalia Llanos, Akemi Arango, Miguel Angel Vences, Jose Dominguo Barrientos Guerra, Rayllene Caetano, Rodrigo Targa Martins, Sergio Daniel Scollo, Patrick Matic Yalung, Shashank Nagendra, Abhijit Gaikwad, Kwon-Duk Seo, Georgios G. Georgiopoulos, Raul Nogueira, Patrik Michel
Summary: This retrospective study evaluated the safety and outcomes of revascularization treatments in patients with acute ischemic stroke and COVID-19. COVID-19 patients had higher rates of intracranial bleeding complications and worse clinical outcomes after treatment compared to non-COVID-19 patients.
Article
Clinical Neurology
Tolga D. Dittrich, Mara Aujesky, Salome Rudin, Annaelle Zietz, Benjamin Wagner, Alexandros Polymeris, Valerian L. Altersberger, Tim Sinnecker, Henrik Gensicke, Stefan T. Engelter, Philippe Lyrer, Viviane Hess, Raoul Sutter, Christian H. Nickel, Leo H. Bonati, Urs Fischer, Marios Psychogios, Mira Katan, Gian Marco De Marchis
Summary: This study retrospectively included data from 2715 patients with acute stroke and found that 5.9% (161/2715) of patients had pulmonary lesions on CTA. Approximately one-third of these lesions (58/161) were suspicious for malignancy. Further investigation confirmed primary or secondary pulmonary malignancy in two-thirds of patients (12/16) and they received oncologic therapy.
EUROPEAN STROKE JOURNAL
(2023)
Editorial Material
Clinical Neurology
Didier Leys
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Review
Clinical Neurology
Salvatore Iacono, Roberta Baschi, Lucia Di Giorgi, Cesare Gagliardo, Alessandro Pezzini, Roberto Monastero
Summary: Spontaneous cervical artery dissection (sCeAD) is the most common cause of ischemic stroke at a young age. Hemophilia A, an X-linked condition that leads to spontaneous bleeding, may also be associated with arterial dissection. However, the relationship between these two diseases and the best antithrombotic treatment option for hemophilia patients with arterial dissection have not been studied extensively.
NEUROLOGICAL SCIENCES
(2023)
Article
Clinical Neurology
Benedetta Storti, Isabella Canavero, Maria Magdalena Gabriel, Antonella Capozza, Nicola Rifino, Mario Stanziano, Luca Tagliabue, Anna Bersano
Summary: Iatrogenic cerebral amyloid angiopathy (iCAA) is a specific type of cerebral amyloid angiopathy, and its diagnosis is increasing. It is hypothesized that iCAA may occur as a late consequence of past neurosurgical interventions involving dural patch grafts. Although positron emission tomography (PET) scans and beta-amyloid levels in cerebrospinal fluid (CSF) are auxiliary criteria, the definite diagnosis still relies on histopathological examination.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Editorial Material
Biochemistry & Molecular Biology
Anna Bersano, Laura Gatti
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Cardiac & Cardiovascular Systems
Quentin Le Grand, Leslie Ecker Ferreira, Tiina M. Metso, Sabrina Schilling, Turgut Tatlisumak, Caspar Grond-Ginsbach, Stefan T. Engelter, Philippe Lyrer, Jennifer J. Majersik, Bradford B. Worrall, Andrew M. Southerland, Hugh S. Markus, Mark Lathrop, Vincent Thijs, Didier Leys, Philippe Amouyel, Jean Dallongeville, Martin Dichgans, Alessandro Pezzini, Anna Bersano, Muralidharan Sargurupremraj, Stephanie Debette
Summary: There is a causal relationship between high blood pressure and the risk and recurrence of cervical artery dissections. Beta-blockers may lower the risk of cervical artery dissections, while calcium-channel blockers may lower the risk of non-cervical artery dissections.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2023)
Article
Clinical Neurology
Katharina Seystahl, Nicolas Martinez-Majander, Alexander Salerno, Morin Beyeler, Hebun Erdur, Joao Pedro Marto, Christian Hametner, Marialuisa Zedde, Alessandro Pezzini, Ronen Leker, Valerian Altersberger, Gianluca Costamagna, Miguel Serodio, Ludovica Migliaccio, Rosario Pascarella, Andrea Zini, Laura Mannismaki, Yannick Bejot, Simon Jung, Henrik Gensicke, Visnja Padjen, Peter A. Ringleb, Christian Nolte, Mirjam R. Heldner, Patrik Michel, Stefan T. Engelter, Sami Curtze, Michael Weller, Susanne Wegener
Summary: This study analyzed data from the European TRISP collaboration to assess the frequency of symptomatic and fatal intracranial hemorrhage (ICH) in patients with intracranial tumors who underwent intravenous thrombolysis (IVT) for suspected ischemic stroke. The results showed a potential high risk of symptomatic ICH in patients with tumors of the pituitary region and suggested that these findings could guide individual treatment decisions in this population.
Article
Clinical Neurology
Pargol Balali, Robert G. Hart, Eric E. Smith, Feryal Saad, Pablo Colorado, Robin Lemmens, Gian Marco De Marchis, Valeria Caso, Lizhen Xu, Laura Heenan, Stuart J. Connolly, Hardi Mundl, Ashkan Shoamanesh
Summary: This study aimed to investigate the effects of the factor-XIa inhibitor asundexian on the development of new microbleeds in non-cardioembolic ischemic stroke patients. The results showed that asundexian treatment was not associated with the development of microbleeds and had a lower occurrence of adverse outcomes such as new microbleeds and hemorrhagic transformation in patients with microbleeds.
INTERNATIONAL JOURNAL OF STROKE
(2023)
Article
Health Care Sciences & Services
Leeanne M. Carey, Liana S. Cahill, Jannette M. Blennerhassett, Michael Nilsson, Natasha A. Lannin, Vincent Thijs, Susan Hillier, Dominique A. Cadilhac, Geoffrey A. Donnan, Meg E. Morris, Leonid Churilov, Marion Walker, Shanthi Ramanathan, Michael Pollack, Esther May, Geoffrey C. Cloud, Sharon Mcgowan, Tissa Wijeratne, Marc Budge, Fiona Mckinnon, John Olver, Toni Hogg, Michael Murray, Brendon Haslam, Irene Koukoulas, Brittni Nielsen, Yvonne Mak-Yuen, Megan Turville, Cheryl Neilson, Anna Butler, Joosup Kim, Thomas A. Matyas
Summary: This study aims to increase access to evidence-based upper-limb rehabilitation for stroke survivors and improve their outcomes through the establishment of a national partnership. The research utilizes a knowledge transfer intervention to enhance therapists' skills and guide the implementation of SENSe therapy. Outcomes include successful delivery of therapy, improved somatosensory function, and better performance in self-selected activities and quality of life.
Correction
Clinical Neurology
S. Debette, M. Mazighi, P. Bijlenga
EUROPEAN STROKE JOURNAL
(2023)