Article
Biochemistry & Molecular Biology
Justyna Basak, Danuta Piotrzkowska, Ireneusz Majsterek, Ewa Kucharska
Summary: Multiple sclerosis (MS) is an autoimmune disorder of the central nervous system with no cure and unclear etiology. This study aimed to identify SNPs associated with an increased risk of developing MS. The findings suggest that the GG AGO1 rs636832 and AA GEMIN4 rs7813 genotypes are associated with an increased risk of MS.
Article
Health Care Sciences & Services
Yu-Ting Hsiao, Feng-Chih Shen, Shao-Wen Weng, Pei-Wen Wang, Yung-Jen Chen, Jong-Jer Lee
Summary: This study identified genetic determinants of increased risk of diabetic retinopathy (DR) in individuals with type 2 diabetes mellitus (T2DM), focusing on FTO (rs8050136) and PSMD6 (rs831571) genetic variations. By combining genetic and nongenetic risk factors, the predictive model showed improved accuracy in predicting DR risk, especially in patients with poor glycemic control or severe microalbuminuria.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Immunology
Vera Lezhnyova, Yuriy Davidyuk, Asia Mullakhmetova, Maria Markelova, Alexander Zakharov, Svetlana Khaiboullina, Ekaterina Martynova
Summary: This study found an association between circulating anti-HHV6 antibodies and MS diagnosis. It also confirmed the correlation of certain SNPs in CD58 and CD6 genes with MS susceptibility. Fatigue symptom was found to be linked to certain genotypes of the CD58 gene. Additionally, a link was found between having anti-HHV6 and anti-VZV antibodies and certain SNPs in the IL2RA and CD40 genes, respectively.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Clinical Neurology
Zongbo Zhao, Jianzhong Xue, Ziliang Zhuo, Wei Zhong, Hui Liu
Summary: This study investigated the association between IL7R rs6897932 and multiple sclerosis (MS) in a population from southern China. Genetic models showed significant associations between IL7R rs6897932 and MS, suggesting a potential genetic risk factor for the disease.
NEUROPSYCHIATRIC DISEASE AND TREATMENT
(2022)
Article
Clinical Neurology
Andreas Tornell, Roberta Kiffin, Sara Haghighi, Natalia Mossberg, Oluf Andersen, Kristoffer Hellstrand, Anna Martner
Summary: This study found that genetic variations within the CYBA gene, which affects the formation of reactive oxygen species (ROS), are associated with the severity and progression of multiple sclerosis (MS). Specifically, low-ROS alleles were linked to reduced MS severity and delayed onset of secondary progressive MS (SPMS). These findings suggest that targeting the NOX2 enzyme may be a potential therapeutic strategy to delay secondary progression in MS.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Immunology
Chenxi Liu, Songxin Yan, Haizhen Chen, Ziyan Wu, Liubing Li, Linlin Cheng, Haolong Li, Yongzhe Li
Summary: This study found that the GTF2I rs117026326 and rs73366469 SNPs were strongly associated with SSc in the Chinese Han population, while NFKB1 rs1599961 showed a suggestive association with SSc. However, TYK2 rs2304256 was not significantly associated with SSc in this particular population.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Medicine, General & Internal
Maha Daghestani, Nashwa Othman, Mohammed A. Omair, Fahidah Alenzi, Maha A. Omair, Eman Alqurtas, Shireen Amin, Arjumand Warsy
Summary: This study conducted an investigation on the Saudi population and found that 6 single nucleotide polymorphisms (SNPs) were significantly associated with rheumatoid arthritis (RA), with 4 of them having a protective effect. Two SNPs showed significantly higher heterozygote frequencies in the control group compared to the patients. This indicates considerable heterogeneity in the genetics of RA in different populations.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Immunology
Yan Li, Wei Li, Li Huang, Huijia Li, Peipeng He, Chao Xue
Summary: This study investigated the association between microscopic polyangiitis and the single nucleotide polymorphism rs807185 in autophagy-associated gene 4A (ATG4A) in the Chinese population. Using multiplex polymerase chain reaction and high-throughput sequencing, it was found that the control group had a higher frequency of the A allele of rs807185 compared to the microscopic polyangiitis group, suggesting that the A allele of rs807185 may have a protective effect against microscopic polyangiitis in the Chinese population. However, the molecular mechanisms remain unclear.
INTERNATIONAL IMMUNOPHARMACOLOGY
(2023)
Article
Clinical Neurology
Lei Wu, Bo Liu, Yanbing Wei, Peng Lu
Summary: This study found that rs2274316 and rs3790455 of MEF2D gene are potential genetic risk factors for multiple sclerosis (MS) in the Chinese population. The transcription level of MEF2D is also associated with susceptibility to MS and MEF2D gene polymorphisms.
ACTA NEUROLOGICA BELGICA
(2023)
Review
Biotechnology & Applied Microbiology
Luiz Alexandre Chisini, Rodrigo Varella de Carvalho, Francine dos Santos Costa, Luana Carla Salvi, Flavio Fernando Demarco, Marcos Britto Correa
Summary: The aim of this systematic review and meta-analysis was to investigate the influence of single nucleotide polymorphisms (SNPs), related to genes in salivary composition and flow, on dental caries experience. Sixteen studies were included in the systematic review and ten in the meta-analysis. Forty-four SNPS, covering four genes (CA6, AQP2, AQP5, and MUC5B) were identified. Most of the SNPs were not associated with caries in meta-analysis. Homozygous TT genotype of the SNP CA6 rs17032907(C/T) was associated with caries [OR = 3.23(1.39-7.49)]. The pool effect of the SNPs assessed in AQP5 was associated with a reduction in the likelihood of caries [OR = 0.75(0.59-0.95)]. Considering all SNPs of salivary composition and flow, the effect allele was associated with a 75% increase in the likelihood of caries [OR = 1.75(1.06-2.89)] in the homozygous genotype. The present findings showed that the genes in salivary composition and flow can play an important role in dental caries experience.
Article
Hematology
M. Abdullah Said, Ming Wai Yeung, Yordi J. van de Vegte, Jan Walter Benjamins, Robin P. F. Dullaart, Sanni Ruotsalainen, Samuli Ripatti, Pradeep Natarajan, Luis Eduardo Juarez-Orozco, Niek Verweij, P. van der Harst
Summary: This study identified 40 genetic loci associated with Lp(a) concentrations and confirmed a causal relationship between Lp(a) and CAD, independent of LDL cholesterol. The findings suggest an LDL cholesterol-independent causal link between Lp(a) and CAD.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Elena Garcia-Martin, Jose A. G. Agundez, Javier Gomez-Tabales, Julian Benito-Leon, Jorge Millan-Pascual, Maria Diaz-Sanchez, Patricia Calleja, Laura Turpin-Fenoll, Hortensia Alonso-Navarro, Esteban Garcia-Albea, Jose Francisco Plaza-Nieto, Felix Javier Jimenez-Jimenez
Summary: This study found no association between the CD4 rs1922452, CD4 rs951818, and LAG3 rs870849 gene variants and the risk of developing MS in the Caucasian Spanish population.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Puneet Talwar, Suman Kushwaha, Chitra Rawat, Harpreet Kaur, Ankit Srivastava, Rachna Agarwal, Puneet Chandna, Paolo Tucci, Luciano Saso, Ritushree Kukreti
Summary: This study validated the reliability of the genomic convergence and network analysis approach in identifying candidate genes associated with Alzheimer's disease by studying the association of genetic variants from three critical genes, APOE, EGFR, and ACTB. The results showed significant associations between certain SNPs in these genes and AD, further supporting the utility of this approach in identifying potential AD-related genes.
FRONTIERS IN GENETICS
(2021)
Article
Endocrinology & Metabolism
Polina Popova, Alexandra A. Klyushina, Lyudmila B. Vasilyeva, Alexandra S. Tkachuk, Elena A. Vasukova, Anna D. Anopova, Evgenii A. Pustozerov, Inga Gorelova, Ekaterina N. Kravchuk, O. Li, Tatiana M. Pervunina, Anna A. Kostareva, Elena N. Grineva
Summary: Among 11 SNPs associated with T2D and/or GDM in other populations, significant association with GDM was confirmed for two variants in MTNR1B in Russian women. However, the value of these variants in identifying GDM cases was limited.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Clinical Neurology
Kelly Hares, K. Kemp, S. Loveless, C. M. Rice, N. Scolding, E. Tallantyre, N. Robertson, A. Wilkins
Summary: This study aimed to assess the prognostic value of KIF5A in MS and found that CSF KIF5A levels were positively correlated with MS disease severity, with progressive MS patients showing higher expression. Additionally, risk alleles of MS susceptibility gene loci were associated with relapse rates, treatment methods, and disease duration in MS patients. Further studies on analyzing MS susceptibility SNPs for prognostic value are recommended.
JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Kiran Samra, Amy M. MacDougall, Arabella Bouzigues, Martina Bocchetta, David M. Cash, Caroline Greaves, Rhian S. Convery, John C. van Swieten, Harro Seelaar, Lize Jiskoot, Fermin Moreno, Raquel Sanchez-Valle, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B. Rowe, Barbara Borroni, Elizabeth Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonca, Christopher R. Butler, Alexander Gerhard, Simon Ducharme, Isabelle Le Ber, Pietro Tiraboschi, Isabel Santana, Florence Pasquier, Johannes Levin, Markus Otto, Sandro Sorbi, Jonathan D. Rohrer, Lucy L. Russell
Summary: The study found that about 76% of patients with genetic bvFTD have language impairments, characterized by impaired functional communication, decreased fluency, and impaired sentence comprehension. There are differences in the extent of brain atrophy in specific language regions and language symptoms among different genetic types of patients. This research is helpful for further understanding the language phenotype associated with genetic bvFTD, especially in accurate stratification and monitoring of disease progression in clinical trials.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Agnes Perez-Millan, Sergi Borrego-Ecija, John C. van Swieten, Lize Jiskoot, Fermin Moreno, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B. Rowe, Barbara Borroni, Elizabeth Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonca, Chris R. Butler, Alexander Gerhard, Simon Ducharme, Isabelle Le Ber, Isabel Santana, Florence Pasquier, Johannes Levin, Markus Otto, Sandro Sorbi, Pietro Tiraboschi, Harro Seelaar, Tobias Langheinrich, Jonathan D. Rohrer, Roser Sala-Llonch, Raquel Sanchez-Valle
Summary: The C9orf72 expansion is a common genetic cause of frontotemporal dementia and/or motor neuron disease. MRI analysis showed differences in white matter volumes between presymptomatic and symptomatic carriers, suggesting that this measure may be useful in predicting symptom onset. Additionally, clinical severity was negatively associated with white matter volume.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Kiran Samra, Amy M. MacDougall, Georgia Peakman, Arabella Bouzigues, Martina Bocchetta, David M. Cash, Caroline Greaves, Rhian S. Convery, John C. van Swieten, Lize Jiskoot, Harro Seelaar, Fermin Moreno, Raquel Sanchez-Valle, Robert Laforce, Caroline Graff, Mario Masellis, Carmela Tartaglia, James B. Rowe, Barbara Borroni, Elizabeth Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonca, Chris R. Butler, Alexander Gerhard, Simon Ducharme, Isabelle Le Ber, Pietro Tiraboschi, Isabel Santana, Florence Pasquier, Johannes Levin, Markus Otto, Sandro Sorbi, Jonathan D. Rohrer, Lucy L. Russell
Summary: This study investigated the optimal method of adding motor features to a clinical rating scale for frontotemporal dementia (FTD). The results showed that motor symptoms are present in mutation carriers at all disease stages, and including motor symptoms in a rating scale can provide a more accurate assessment of disease severity and incorporate a wider spectrum of FTD phenotypes in the same clinical trial.
JOURNAL OF NEUROLOGY
(2023)
Correction
Clinical Neurology
Filippo Martinelli-Boneschi, Antonio Colombo, Nereo Bresolin, Maria Sessa, Pietro Bassi, Giampiero Grampa, Eugenio Magni, Maurizio Versino, Carlo Ferrarese, Davide Zarcone, Alberto Albanese, Giuseppe Micieli, Carla Zanferrari, Antonio Cagnana, Claudio Ferrante, Angelo Zilioli, Davide Locatelli, Maria Vittoria Calloni, Maria Luisa Delodovici, Mattia Pozzato, Valerio Patisso, Francesco Bortolan, Camillo Foresti, Barbara Frigeni, Stefania Canella, Rubjona Xhani, Massimo Crabbio, Alessandro Clemenzi, Marco Mauri, Simone Beretta, Isidoro La Spina, Simona Bernasconi, Tiziana De Santis, Anna Cavallini, Michela Ranieri, Elisabetta D'Adda, Maria Elisa Fruguglietti, Lorenzo Peverelli, Edoardo Agosti, Olivia Leoni, Andrea Rigamonti, Andrea Salmaggi
NEUROLOGICAL SCIENCES
(2023)
Article
Health Care Sciences & Services
Laura Ferre, Ferdinando Clarelli, Beatrice Pignolet, Elisabetta Mascia, Marco Frasca, Silvia Santoro, Melissa Sorosina, Florence Bucciarelli, Lucia Moiola, Vittorio Martinelli, Giancarlo Comi, Roland Liblau, Massimo Filippi, Giorgio Valentini, Federica Esposito
Summary: In this study, machine learning methods were used to predict the response of multiple sclerosis patients to fingolimod based on clinical and genetic features. Two patient cohorts from Italy and France were analyzed, and separate predictive models with genetic features only and combined clinical-genetic features were obtained. The results showed that machine learning methods can provide accurate prediction of fingolimod response.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Article
Neurosciences
Aurelie P. Bussy, Jake P. Levy, Tristin Best, Raihaan Patel, Lani Cupo, Tim Van Langenhove, Jorgen E. Nielsen, Yolande Pijnenburg, Maria Landqvist M. Waldo, Anne M. L. Remes, Matthias L. Schroeter, Isabel Santana, Florence Pasquier, Markus Otto, Adrian Danek, Johannes Levin, Isabelle Le Ber, Rik Vandenberghe, Matthis Synofzik, Fermin Moreno, Alexandre de Mendonca, Raquel Sanchez-Valle, Robert Laforce, Tobias Langheinrich, Alexander Gerhard, Caroline R. Graff, Chris R. Butler, Sandro Sorbi, Lize Jiskoot, Harro C. Seelaar, John C. van Swieten, Elizabeth Finger, Maria Carmela Tartaglia, Mario Masellis, Pietro Tiraboschi, Daniela Galimberti, Barbara B. Borroni, James B. Rowe, Martina D. Bocchetta, Jonathan D. A. Rohrer, Gabriel A. Devenyi, M. Mallar Chakravarty, Simon Ducharme
Summary: Recent studies have shown that early cerebellar and subcortical changes are seen in the progression of genetic frontotemporal dementia due to specific gene mutations. This study aimed to investigate the relationship between cerebellar and subcortical atrophy and neuropsychiatric symptoms across different genetic mutations in FTD.
HUMAN BRAIN MAPPING
(2023)
Correction
Clinical Neurology
Chiara Zanetta, Maria A. Rocca, Alessandro Meani, Vittorio Martinelli, Laura Ferre, Lucia Moiola, Massimo Filippi
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Chiara Zanetta, Maria A. Rocca, Alessandro Meani, Vittorio Martinelli, Laura Ferre, Lucia Moiola, Massimo Filippi
Summary: This study investigated the effectiveness and safety of cladribine in RRMS patients. The results showed that cladribine reduced relapses and MRI activity, and stabilized disability. Patients who switched from first-line therapies or were naïve had better outcomes.
JOURNAL OF NEUROLOGY
(2023)
Review
Chemistry, Multidisciplinary
Marianna D'Anca, Francesca R. Buccellato, Gianluca Martino Tartaglia, Massimo Del Fabbro, Paola Muti, Elio Scarpini, Daniela Galimberti, Laura Ghezzi
Summary: Multiple sclerosis (MS), a prevalent demyelinating disease of the central nervous system, primarily affects young adults. The autoimmune response of lymphocyte cells against myelin components leads to inflammation, demyelination, and axonal degeneration. Gender-related factors, such as sex hormones and genetic differences, contribute to the higher prevalence in women. Dysbiosis of gut microbiota and oral biology alterations may also play a role in the pathogenesis. This study aims to explore gender differences in MS and their potential involvement in the oral-gut-brain axis.
APPLIED SCIENCES-BASEL
(2023)
Article
Medicine, General & Internal
Jiao Luo, Jesper Qvist Thomassen, Celine Bellenguez, Benjamin Grenier-Boley, Itziar de Rojas, Atahualpa Castillo, Kayenat Parveen, Fahri Kuecuekali, Aude Nicolas, Oliver Peters, Anja Schneider, Martin Dichgans, Dan Rujescu, Norbert Scherbaum, Deckert Juergen, Steffi Riedel-Heller, Lucrezia Hausner, Laura Molina Porcel, Emrah Duezel, Timo Grimmer, Jens Wiltfang, Stefanie Heilmann-Heimbach, Susanne Moebus, Thomas Tegos, Nikolaos Scarmeas, Jordi Clarimon, Fermin Moreno, Jordi Perez-Tur, Maria J. Bullido, Pau Pastor, Raquel Sanchez-Valle, Victoria Alvarez, Merce Boada, Pablo Garcia-Gonzalez, Raquel Puerta, Pablo Mir, Luis M. Real, Gerard Pinol-Ripoll, Jose Maria Garcia-Alberca, Jose Luis Royo, Eloy Rodriguez-Rodriguez, Hilkka Soininen, Teemu Kuulasmaa, Alexandre de Mendonca, Shima Mehrabian, Jakub Hort, Martin Vyhnalek, Sven van der Lee, Caroline Graff, Goran Papenberg, Vilmantas Giedraitis, Anne Boland, Delphine Bacq-Daian, Jean-Francois Deleuze, Gael Nicolas, Carole Dufouil, Florence Pasquier, Olivier Hanon, Stephanie Debette, Edna Gruenblatt, Julius Popp, Luisa Benussi, Daniela Galimberti, Beatrice Arosio, Patrizia Mecocci, Vincenzo Solfrizzi, Lucilla Parnetti, Alessio Squassina, Lucio Tremolizzo, Barbara Borroni, Benedetta Nacmias, Sandro Sorbi, Paolo Caffarra, Davide Seripa, Innocenzo Rainero, Antonio Daniele, Carlo Masullo, Gianfranco Spalletta, Julie Williams, Philippe Amouyel, Frank Jessen, Patrick Kehoe, Tsolaki Magda, Giacomina Rossi, Pascual Sanchez-Juan, Kristel Sleegers, Martin Ingelsson, Ole A. Andreassen, Mikko Hiltunen, Cornelia Van Duijn, Rebecca Sims, Wiesje van der Flier, Agustin Ruiz, Alfredo Ramirez, Jean-Charles Lambert, Ruth Frikke-Schmidt
Summary: This genetic association study identifies novel genetic associations between high HDL cholesterol concentrations and high systolic blood pressure with increased risk of AD, potentially inspiring new drug targeting and improved prevention implementation.
Article
Clinical Neurology
Kiran Samra, Amy M. MacDougall, Arabella Bouzigues, Martina Bocchetta, David M. Cash, Caroline Greaves, Rhian S. Convery, Chris Hardy, John C. van Swieten, Harro Seelaar, Lize C. Jiskoot, Fermin Moreno, Raquel Sanchez-Valle, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B. Rowe, Barbara Borroni, Elizabeth Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonca, Chris R. Butler, Alexander Gerhard, Simon Ducharme, Isabelle Le Ber, Isabel Santana, Florence Pasquier, Johannes Levin, Markus Otto, Sandro Sorbi, Jason D. Warren, Jonathan D. Rohrer, Lucy L. Russell
Summary: Samra et al. report that progranulin mutations are the most common genetic cause of primary progressive aphasia, with two subtypes observed. Revised criteria for primary progressive aphasia should take into account genetic phenotypes. Primary progressive aphasia is typically sporadic, but can also be genetic.
BRAIN COMMUNICATIONS
(2023)
Article
Clinical Neurology
Martina Bocchetta, Emily G. Todd, Arabella Bouzigues, David M. Cash, Jennifer M. Nicholas, Rhian S. Convery, Lucy L. Russell, David L. Thomas, Ian B. Malone, Juan Eugenio Iglesias, John C. van Swieten, Lize C. Jiskoot, Harro Seelaar, Barbara Borroni, Daniela Galimberti, Raquel Sanchez-Valle, Robert Laforce, Fermin Moreno, Matthis Synofzik, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B. Rowe, Rik Vandenberghe, Elizabeth Finger, Fabrizio Tagliavini, Alexandre de Mendonca, Isabel Santana, Chris R. Butler, Simon Ducharme, Alexander Gerhard, Adrian Danek, Johannes Levin, Markus Otto, Sandro Sorbi, Isabelle Le Ber, Florence Pasquier, Jonathan D. Rohrer
Summary: The study quantified brain anomalies on MRI in individuals with C9orf72, MAPT, and GRN mutations. The identified imaging markers associated with clinical and behavioral changes in presymptomatic carriers over one year, providing important data for participant stratification in trials. Biomarkers predicting disease progression in genetic frontotemporal dementia are urgently needed.
BRAIN COMMUNICATIONS
(2023)
Article
Neurosciences
Maria Cotelli, Francesca Baglio, Rosa Manenti, Valeria Blasi, Daniela Galimberti, Elena Gobbi, Ilaria Pagnoni, Federica Rossetto, Emanuela Rotondo, Valentina Esposito, Roberto De Icco, Carla Giudice, Cristina Tassorelli, Eleonora Catricala, Giulia Perini, Cristina Alaimo, Elena Campana, Luisa Benussi, Roberta Ghidoni, Giuliano Binetti, Tiziana Carandini, Stefano Francesco Cappa
Summary: Primary Progressive Aphasia (PPA) is a syndrome caused by different neurodegenerative disorders that disrupt language functions. There is a lack of specialized care for PPA, with few specialists and dedicated services for diagnosis and continuing care. Current healthcare systems struggle to provide adequate and coordinated care for PPA patients and their families. Non-invasive brain stimulation techniques like transcranial Direct Current Stimulation (tDCS) have gained attention as personalized treatment options, and the MAINSTREAM trial aims to introduce and evaluate these therapeutic innovations coupled with language therapy in rehabilitation settings.
Review
Dentistry, Oral Surgery & Medicine
Paola Dongiovanni, Marica Meroni, Sara Casati, Riccardo Goldoni, Douglas Vieira Thomaz, Nermin Seda Kehr, Daniela Galimberti, Massimo Del Fabbro, Gianluca M. Tartaglia
Summary: Chronic disorders such as type 2 diabetes, obesity, heart disease, and cancer are preceded by chronic low-grade inflammation. Saliva, which can be easily collected and stored, contains biomarkers that can indicate the presence of chronic diseases. This review discusses the advantages and challenges of using standard and cutting-edge techniques to discover salivary biomarkers that can be used for diagnosis and therapy of chronic diseases.
INTERNATIONAL JOURNAL OF ORAL SCIENCE
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Anna M. Pietroboni, Annalisa Colombi, Valeria E. Contarino, Francesco Maria Lo Russo, Giorgio Conte, Aurelia Morabito, Silvia Siggillino, Tiziana Carandini, Chiara Fenoglio, Andrea Arighi, Milena A. De Riz, Marina Arcaro, Luca Sacchi, Giorgio G. Fumagalli, Anna Maria Bianchi, Fabio Triulzi, Elio Scarpini, Daniela Galimberti
Summary: This study investigated the susceptibility of normal-appearing white matter (NAWM) in newly diagnosed multiple sclerosis (MS) patients and found that quantitative susceptibility mapping (QSM) in the NAWM can predict the increment of the expanded disability status scale (EDSS) over time. This finding may help identify patients at an increased risk of early disability progression.
EUROPEAN RADIOLOGY
(2023)
Article
Neurosciences
Song Xue, Feng Kong, Yiying Song, Jia Liu
Summary: This study used resting-state functional magnetic resonance imaging to explore the relationship between individual's spontaneous neural activity and social interaction anxiety in a nonclinical population. The results showed that social interaction anxiety was correlated with the fractional amplitude of low-frequency fluctuations in several brain regions, and that emotional intelligence partially mediated this relationship. This study provides evidence for the neural basis of social interaction anxiety in the normal population and highlights the role of emotional intelligence in this anxiety.
NEUROSCIENCE LETTERS
(2024)
Article
Neurosciences
Katsuyuki Yamaguchi, Takuya Yazawa
Summary: This study provides morphometric data on the development of the human medullary arcuate nucleus (AN) by examining the brains of preterm and perinatal infants. The results show that AN morphology demonstrates asymmetry and individual variability during the fetal period. The volume and neuronal number of AN increase exponentially with age, while neuronal density decreases exponentially. The AN may undergo neuron death and neuroblasts production after mid-gestation.
NEUROSCIENCE LETTERS
(2024)
Article
Neurosciences
Zhan Zhou, Weixin Dai, Tianxiao Liu, Min Shi, Yi Wei, Lifei Chen, Yubo Xie
Summary: Studies have shown that propofol-induced neurotoxicity is caused by disruption of mitochondrial fission and fusion, leading to an energy supply imbalance for developing neurons. Healthy mitochondria released by astrocytes can migrate to compromised neurons to mitigate propofol-induced neurotoxicity, but the exact mechanisms involved still need further clarification.
NEUROSCIENCE LETTERS
(2024)
Article
Neurosciences
An Chen, Song Hao, Yongpeng Han, Yang Fang, Yibei Miao
Summary: This study explores the efficacy of two forms of BCI attention training games and finds that physical games may be more effective than video games. The research also offers valuable insights for future game design from a neuroscience perspective.
NEUROSCIENCE LETTERS
(2024)
Article
Neurosciences
Lina Liu, Luran Liu, Yunting Lu, Tianyuan Zhang, Wenting Zhao
Summary: This study reveals that GDI1 serves as a potential diagnostic biomarker for AD and inhibition of GDI1 can attenuate Aβ-induced neurotoxicity. The findings offer new insights for the treatment of AD.
NEUROSCIENCE LETTERS
(2024)
Article
Neurosciences
Zahra Gholami, Ava Soltani Hekmat, Ali Abbasi, Kazem Javanmardi
Summary: This study investigated the effects of alamandine on allodynia in a rat model and found the presence of MrgD receptors in the vlPAG and RVM regions. Microinjection of alamandine resulted in a significant increase in paw withdrawal threshold and could be blocked by an MrgD receptor antagonist. Upregulation of MrgD receptor expression following allodynia induction suggests a potential compensatory mechanism in response to pain.
NEUROSCIENCE LETTERS
(2024)
Article
Neurosciences
Mingliang Xu, Lei Xia, Junjie Li, Yehong Du, Zhifang Dong
Summary: This study found that DHF effectively alleviates sevoflurane-induced cognitive impairment in developing mice by restoring the balance between tau O-GlcNAcylation and phosphorylation. Therefore, DHF has the potential to be a therapeutic agent for treating cognitive impairment associated with anesthetics, such as sevoflurane.
NEUROSCIENCE LETTERS
(2024)
Article
Neurosciences
Tsubasa Mitsutake, Hisato Nakazono, Takanori Taniguchi, Hisayoshi Yoshizuka, Maiko Sakamoto
Summary: The posterior parietal cortex plays a crucial role in postural stability, and transcranial electrical stimulation of this region can modulate physical control responses. This study found that cathodal stimulation significantly decreased joint angular velocity in multiple directions, while there were no significant differences with transcranial random noise stimulation.
NEUROSCIENCE LETTERS
(2024)
Article
Neurosciences
Xishuai Yang, Wei Zhang, Xueli Chang, Zuopeng Li, Runquan Du, Junhong Guo
Summary: This study aims to evaluate the efficacy of low-dose rituximab (RTX) in patients with muscle-specific kinase antibody positive myasthenia gravis (MuSK-MG). The results showed that low-dose RTX treatment led to significant improvements in clinical symptoms and quality of life for patients with MuSK-MG.
NEUROSCIENCE LETTERS
(2024)
Article
Neurosciences
Jian Zhang, Shunyuan Guo, Rong Tao, Fan Wang, Yihong Xie, Huizi Wang, Lan Ding, Yuejian Shen, Xiaoli Zhou, Junli Feng, Qing Shen
Summary: This study established an Alzheimer's disease (AD) model of zebrafish induced by AlCl3 and found that marine-derived plasmalogens (Pls) could alleviate cognitive impairments of AD zebrafish by reversing athletic impairment and altering the expression levels of genes related to oxidative stress, ferroptosis, synaptic dysfunction, and apoptosis.
NEUROSCIENCE LETTERS
(2024)
Article
Neurosciences
Lu Li, Jiaqi Ren, Qi Fang, Liqiang Yu, Jintao Wang
Summary: ICU-AW is a common and severe neuromuscular complication in critically ill patients. Electrophysiological examination is essential for accurate diagnosis and early prediction of the disease. This study aimed to establish and validate an ICU-AW predictive model in SIRS patients, providing a practical tool for early clinical prediction.
NEUROSCIENCE LETTERS
(2024)
Article
Neurosciences
Ahmad Alipour, Roghayeh Mohammadi
Summary: The present study aimed to investigate the separate and combined effects of anodal transcranial direct current stimulation (tDCS) over the primary motor cortex (M1) and left dorsolateral prefrontal cortex (F3) regions on pain relief in patients with type-2 diabetes suffering from neuropathic pain (NP). The results showed that tDCS had the potential to induce pain relief in patients with type-2 diabetes suffering from NP. The mean perceived pain intensity in the posttest was lower in the M1 stimulation group than in the F3 stimulation group. However, more trials with larger sample sizes are necessary to define clinically relevant effects.
NEUROSCIENCE LETTERS
(2024)
Article
Neurosciences
Eduardo J. Fusse, Franciele F. Scarante, Maria A. Vicente, Mariana M. Marrubia, Flavia Turcato, Davi S. Scomparin, Melissa A. Ribeiro, Maria J. Figueiredo, Tamires A. V. Brigante, Francisco S. Guimaraes, Alline C. Campos
Summary: Repeated exposure to psychosocial stress alters the endocannabinoid system and affects brain regions associated with emotional distress. Enhancing the effects of endocannabinoids through pharmacological inhibition induces an anti-stress behavioral effect, possibly mediated by the mTOR signaling pathway.
NEUROSCIENCE LETTERS
(2024)
Article
Neurosciences
Giulia Agostoni, Luca Bischetti, Federica Repaci, Margherita Bechi, Marco Spangaro, Irene Ceccato, Elena Cavallini, Luca Fiorentino, Francesca Martini, Jacopo Sapienza, Mariachiara Buonocore, Michele Francesco D'Incalci, Federica Cocchi, Carmelo Guglielmino, Roberto Cavallaro, Marta Bosia, Valentina Bambini
Summary: This study found a general impairment in humor comprehension in individuals with schizophrenia, with mental jokes being more difficult for both patients and controls. Humor comprehension was closely associated with the patients' overall pragmatic and linguistic profile, while the association with Theory of Mind (ToM) was minimal. Another notable finding was the increased appreciation of humor in individuals with schizophrenia, who rated jokes as funnier than controls did, regardless of whether they were correctly or incorrectly completed. The funniness ratings were not predicted by any measure, suggesting a dimension of humor untied to cognition or psychopathology.
NEUROSCIENCE LETTERS
(2024)
Article
Neurosciences
Xiuping Gong, Qi Li, Yang Liu
Summary: This study demonstrates that Sev targets CREBBP to inhibit ALG13 transcription, leading to hippocampal damage and cognitive impairment.
NEUROSCIENCE LETTERS
(2024)