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JOURNAL ARTICLE
Daniel Ritish, Preethi V Reddy, Vanteemar S Sreeraj, Harleen Chhabra, Vijay Kumar, Ganesan Venkatasubramanian, Kesavan Muralidharan
BACKGROUND: Neurological soft signs (NSSs), minor physical anomalies (MPAs), and oculomotor abnormalities were plausible biomarkers in bipolar disorder (BD). However, specific impairments in these markers in patients after the first episode mania (FEM), in comparison with first-degree relatives (high risk [HR]) of BD and healthy subjects (health control [HC]) are sparse. AIM OF THE STUDY: This study aimed at examining NSSs, MPAs, and oculomotor abnormalities in remitted adult subjects following FEM and HR subjects in comparison with matched healthy controls...
April 23, 2024: Canadian Journal of Psychiatry. Revue Canadienne de Psychiatrie
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JOURNAL ARTICLE
Gregory A Cary, Jesse C Wiley, Jake Gockley, Stephen Keegan, Sai Sruthi Amirtha Ganesh, Laura Heath, Robert R Butler, Lara M Mangravite, Benjamin A Logsdon, Frank M Longo, Allan Levey, Anna K Greenwood, Gregory W Carter
INTRODUCTION: Alzheimer's disease (AD) is the predominant dementia globally, with heterogeneous presentation and penetrance of clinical symptoms, variable presence of mixed pathologies, potential disease subtypes, and numerous associated endophenotypes. Beyond the difficulty of designing treatments that address the core pathological characteristics of the disease, therapeutic development is challenged by the uncertainty of which endophenotypic areas and specific targets implicated by those endophenotypes to prioritize for further translational research...
2024: Alzheimer's & Dementia: Translational Research & Clinical Interventions
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JOURNAL ARTICLE
Jacob J Crouse, Shin Ho Park, Daniel F Hermens, Jim Lagopoulos, Minji Park, Mirim Shin, Joanne S Carpenter, Elizabeth M Scott, Ian B Hickie
Protecting brain health is a goal of early intervention. We explored whether sleep quality or chronotype could predict white matter (WM) integrity in emerging mental disorders. Young people (N = 364) accessing early-intervention clinics underwent assessments for chronotype, subjective sleep quality, and diffusion tensor imaging. Using machine learning, we examined whether chronotype or sleep quality (alongside diagnostic and demographic factors) could predict four measures of WM integrity: fractional anisotropy (FA), and radial, axial, and mean diffusivities (RD, AD and MD)...
April 22, 2024: European Journal of Neuroscience
#4
JOURNAL ARTICLE
Kang-Fu Yin, Xiao-Jing Gu, Wei-Ming Su, Ting Chen, Jiang Long, Li Gong, Zhi-Ye Ying, Meng Dou, Zheng Jiang, Qing-Qing Duan, Bei Cao, Xia Gao, Li-Yi Chi, Yong-Ping Chen
BACKGROUND: Recent genetic evidence supports that circulating biochemical and metabolic traits (BMTs) play a causal role in Alzheimer's disease (AD), which might be mediated by changes in brain structure. Here, we leveraged publicly available genome-wide association study data to investigate the intrinsic causal relationship between blood BMTs, brain image-derived phenotypes (IDPs) and AD. METHODS: Utilizing the genetic variants associated with 760 blood BMTs and 172 brain IDPs as the exposure and the latest AD summary statistics as the outcome, we analyzed the causal relationship between blood BMTs and brain IDPs and AD by using a two-sample Mendelian randomization (MR) method...
April 30, 2024: Heliyon
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JOURNAL ARTICLE
Alicia Alpuente, Victor J Gallardo, Laila Asskour, Edoardo Caronna, Marta Torres-Ferrus, Patricia Pozo-Rosich
BACKGROUND: Migraine is a complex neurological disorder with significant heterogeneity in its clinical presentation and molecular mechanisms. Calcitonin gene-related peptide (CGRP) has emerged as a key player in migraine pathophysiology, but challenges remain in its utilization as a biomarker. This study aimed to investigate salivary CGRP levels during migraine attacks across the frequency spectrum and explore associations with clinical variables. METHODS: A prospective longitudinal pilot study was conducted, recruiting migraine patients from an outpatient headache clinic...
April 18, 2024: Journal of Headache and Pain
#6
JOURNAL ARTICLE
Jonas Ghouse, Gardar Sveinbjörnsson, Marijana Vujkovic, Anne-Sofie Seidelin, Helene Gellert-Kristensen, Gustav Ahlberg, Vinicius Tragante, Søren A Rand, Joseph Brancale, Silvia Vilarinho, Pia Rengtved Lundegaard, Erik Sørensen, Christian Erikstrup, Mie Topholm Bruun, Bitten Aagaard Jensen, Søren Brunak, Karina Banasik, Henrik Ullum, Niek Verweij, Luca Lotta, Aris Baras, Tooraj Mirshahi, David J Carey, David E Kaplan, Julie Lynch, Timothy Morgan, Tae-Hwi Schwantes-An, Daniel R Dochtermann, Saiju Pyarajan, Philip S Tsao, Triin Laisk, Reedik Mägi, Julia Kozlitina, Anne Tybjærg-Hansen, David Jones, Kirk U Knowlton, Lincoln Nadauld, Egil Ferkingstad, Einar S Björnsson, Magnus O Ulfarsson, Árni Sturluson, Patrick Sulem, Ole B Pedersen, Sisse R Ostrowski, Daniel F Gudbjartsson, Kari Stefansson, Morten Salling Olesen, Kyong-Mi Chang, Hilma Holm, Henning Bundgaard, Stefan Stender
We report a multi-ancestry genome-wide association study on liver cirrhosis and its associated endophenotypes, alanine aminotransferase (ALT) and γ-glutamyl transferase. Using data from 12 cohorts, including 18,265 cases with cirrhosis, 1,782,047 controls, up to 1 million individuals with liver function tests and a validation cohort of 21,689 cases and 617,729 controls, we identify and validate 14 risk associations for cirrhosis. Many variants are located near genes involved in hepatic lipid metabolism...
April 17, 2024: Nature Genetics
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JOURNAL ARTICLE
Matthew P Gunn, Gregory M Rose, Alexis E Whitton, Diego A Pizzagalli, David G Gilbert
INTRODUCTION: The neural underpinnings underlying individual differences in nicotine-enhanced reward sensitivity and smoking progression are poorly understood. Thus, we investigated whether brain resting-state functional connectivity (rsFC) during smoking abstinence predicts nicotine-enhanced reward sensitivity and smoking progression in young light smokers. We hypothesized that high rsFC between brain areas with high densities of nicotinic receptors (insula, anterior cingulate cortex [ACC], hippocampus, thalamus) and areas involved in reward-seeking (nucleus accumbens [NAcc], prefrontal cortex [PFC]) would predict nicotine-enhanced reward sensitivity and smoking progression...
April 16, 2024: Nicotine & Tobacco Research
#8
REVIEW
Chang Ook Park, Su Min Kim, Kwang Hoon Lee, Thomas Bieber
Atopic dermatitis (AD) is the most common form of chronic skin inflammation with diverse clinical variants. Historically, various AD phenotypes have been grouped together without considering their heterogeneity. This approach has resulted in a lack of phenotype- and endotype-adapted therapeutic strategies. Comprehensive insights into AD pathogenesis have enabled precise medicinal approach for AD. These efforts aimed to redefine the endophenotype of AD and develop various biomarkers for diverse purposes. Among these endeavours, efforts are underway to elucidate the mechanisms (and related biomarkers) that lead to the emergence and progression of atopic diseases originating from AD (e...
April 12, 2024: EBioMedicine
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JOURNAL ARTICLE
Carlos Fernández-Lozano, Claudia Geraldine Rita, Alicia Barra-Castro, Belén de la Hoz Caballer, Ernesto Roldán, Cristina Pueyo López, Javier Martinez-Botas, María Pilar Berges-Gimeno
Drug hypersensitivity reactions (DHRs) to platinum-based compounds (PCs) are on the rise, and their personalized and safe management is essential to enable first-line treatment for these cancer patients. This study aimed to evaluate the usefulness of the basophil activation test by flow cytometry (BAT-FC) and the newly developed sIgE-microarray and BAT-microarray in diagnosing IgE-mediated hypersensitivity reactions to PCs. A total of 24 patients with DHRs to PCs (20 oxaliplatin and four carboplatin) were evaluated: thirteen patients were diagnosed as allergic with positive skin tests (STs) or drug provocation tests (DPTs), six patients were diagnosed as non-allergic with negative STs and DPTs, and five patients were classified as suspected allergic because DPTs could not be performed...
March 31, 2024: International Journal of Molecular Sciences
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JOURNAL ARTICLE
Robert Atkinson, Maria Georgiou, Chunbo Yang, Katarzyna Szymanska, Albert Lahat, Elton J R Vasconcelos, Yanlong Ji, Marina Moya Molina, Joseph Collin, Rachel Queen, Birthe Dorgau, Avril Watson, Marzena Kurzawa-Akanbi, Ross Laws, Abhijit Saxena, Chia Shyan Beh, Chileleko Siachisumo, Franziska Goertler, Magdalena Karwatka, Tracey Davey, Chris F Inglehearn, Martin McKibbin, Reinhard Lührmann, David H Steel, David J Elliott, Lyle Armstrong, Henning Urlaub, Robin R Ali, Sushma-Nagaraja Grellscheid, Colin A Johnson, Sina Mozaffari-Jovin, Majlinda Lako
The carboxy-terminus of the spliceosomal protein PRPF8, which regulates the RNA helicase Brr2, is a hotspot for mutations causing retinitis pigmentosa-type 13, with unclear role in human splicing and tissue-specificity mechanism. We used patient induced pluripotent stem cells-derived cells, carrying the heterozygous PRPF8 c.6926 A > C (p.H2309P) mutation to demonstrate retinal-specific endophenotypes comprising photoreceptor loss, apical-basal polarity and ciliary defects. Comprehensive molecular, transcriptomic, and proteomic analyses revealed a role of the PRPF8/Brr2 regulation in 5'-splice site (5'SS) selection by spliceosomes, for which disruption impaired alternative splicing and weak/suboptimal 5'SS selection, and enhanced cryptic splicing, predominantly in ciliary and retinal-specific transcripts...
April 11, 2024: Nature Communications
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JOURNAL ARTICLE
Georgelina Abreu-Fernández, Nancy Murillo-García, Víctor Ortiz-García de la Foz, Rebeca Magdaleno Herrero, Ángel Yorca-Ruiz, Rosa Ayesa-Arriola
BACKGROUND: Deficits in Theory of Mind (ToM) had been suggested as a possible endophenotype for unaffected relatives of first episode of psychosis (FEP) patients. There are a limited number of studies which have evaluated ToM deficits among the siblings and parents of FEP patients. AIM: This study aimed to explore ToM deficits and its correlates among FEP patients, their siblings, parents, and controls. METHODOLOGY: FEP patients (N=102), their parents (N=135), siblings (N=97), and controls (N=167) were evaluated on ToM performance with the Reading the Mind in the Eyes Test (Eyes Test)...
October 12, 2023: Span J Psychiatry Ment Health
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JOURNAL ARTICLE
R Limão, R Brás, E Pedro, S L Silva, A Lopes
Background. The clinical and pathophysiological heterogeneity of atopic dermatitis (AD) endophenotypes is associated with wide diversity in response to therapy. The aim of this study was to evaluate the response to dupilumab in a group of AD patients and identify clinical/immunological features associated with different patterns of response. Methods. A retrospective observational study was performed, including 30 adults with AD who completed 12 months treatment with dupilumab, in a Portuguese Immunoallergology Department...
April 9, 2024: European Annals of Allergy and Clinical Immunology
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JOURNAL ARTICLE
Single-Cell Multi-Omics Map of Cell Type-Specific Mechanistic Drivers of Multiple Sclerosis Lesions.
Maria L Elkjaer, Anne Hartebrodt, Mhaned Oubounyt, Anna Weber, Lars Vitved, Richard Reynolds, Mads Thomassen, Richard Rottger, Jan Baumbach, Zsolt Illes
BACKGROUND AND OBJECTIVES: In progressive multiple sclerosis (MS), compartmentalized inflammation plays a pivotal role in the complex pathology of tissue damage. The interplay between epigenetic regulation, transcriptional modifications, and location-specific alterations within white matter (WM) lesions at the single-cell level remains underexplored. METHODS: We examined intracellular and intercellular pathways in the MS brain WM using a novel dataset obtained by integrated single-cell multi-omics techniques from 3 active lesions, 3 chronic active lesions, 3 remyelinating lesions, and 3 control WM of 6 patients with progressive MS and 3 non-neurologic controls...
May 2024: Neurology® Neuroimmunology & Neuroinflammation
#14
Jonathan Ahern, Mary Et Boyle, Wesley K Thompson, Chun Chieh Fan, Robert Loughnan
PURPOSE: Iron is an essential nutrient which can only be absorbed through an individual's diet. Excess iron accumulates in organs throughout the body including the brain. Iron dysregulation in the brain is commonly associated with neurodegenerative diseases like Alzheimer's disease and Parkinson's Disease (PD). Our previous research has shown that a pattern of iron accumulation in motor regions of the brain related to a genetic iron-storage disorder called hemochromatosis is associated with an increased risk of PD...
March 15, 2024: medRxiv
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JOURNAL ARTICLE
Elize A Santos Musachio, Stefani da Silva Andrade, Luana Barreto Meichtry, Eliana Jardim Fernandes, Pamela Piardi de Almeida, Dieniffer Espinosa Janner, Mustafa Munir Mustafa Dahleh, Gustavo Petri Guerra, Marina Prigol
Bisphenol F (BPF) and Bisphenol S (BPS) are being widely used by the industry with the claim of "safer substances", even with the scarcity of toxicological studies. Given the etiological gap of autism spectrum disorder (ASD), the environment may be a causal factor, so we investigated whether exposure to BPF and BPS during the developmental period can induce ASD-like modeling in adult flies. Drosophila melanogaster flies were exposed during development (embryonic and larval period) to concentrations of 0.25, 0...
March 28, 2024: Neurotoxicology and Teratology
#16
JOURNAL ARTICLE
Wenliang Pan, Yue Shan, Chuang Li, Shuai Huang, Tengfei Li, Yun Li, Hongtu Zhu
MOTIVATION: Imaging genetics integrates imaging and genetic techniques to examine how genetic variations influence the function and structure of organs like the brain or heart, providing insights into their impact on behavior and disease phenotypes. The use of organ-wide imaging endophenotypes has increasingly been employed to identify potential genes associated with complex disorders. However, analyzing organ-wide imaging data alongside genetic data presents two significant challenges: high dimensionality and complex relationships...
March 29, 2024: Bioinformatics
#17
JOURNAL ARTICLE
Theresa Hillebrecht, Rüdiger Korbel, Monika Rinder, Manfred Gahr
Measurement of blood corticosterone concentrations has been established as an indicator for assessment of acute distress. Therefore, knowledge on physiological fluctuations is required, but previous studies allow little conclusion on daily fluctuations in domestic chickens ( Gallus gallus domesticus ). To verify the presence of a circadian corticosterone rhythm in socialized chickens, blood samples were taken at four-hour intervals from 12 laying hens kept in groups of four over three days, each. Prior to experiments, hens were adapted to repeated handling for stress reduction...
March 12, 2024: Animals: An Open Access Journal From MDPI
#18
JOURNAL ARTICLE
Catharina C Gross, Andreas Schulte-Mecklenbeck, Olga V Steinberg, Timo Wirth, Sarah Lauks, Stefan Bittner, Patrick Schindler, Sergio E Baranzini, Sergiu Groppa, Judith Bellmann-Strobl, Nora Bünger, Claudia Chien, Eva Dawin, Maria Eveslage, Vinzenz Fleischer, Gabriel Gonzalez-Escamilla, Barbara Gisevius, Jürgen Haas, Martin Kerschensteiner, Lucienne Kirstein, Catharina Korsukewitz, Lisa Lohmann, Jan D Lünemann, Felix Luessi, Gerd Meyer Zu Hörste, Jeremias Motte, Tobias Ruck, Klemens Ruprecht, Nicholas Schwab, Falk Steffen, Sven G Meuth, Friedemann Paul, Brigitte Wildemann, Tania Kümpfel, Ralf Gold, Tim Hahn, Frauke Zipp, Luisa Klotz, Heinz Wiendl
One of the biggest challenges in managing multiple sclerosis is the heterogeneity of clinical manifestations and progression trajectories. It still remains to be elucidated whether this heterogeneity is reflected by discrete immune signatures in the blood as a surrogate of disease pathophysiology. Accordingly, individualized treatment selection based on immunobiological principles is still not feasible. Using two independent multicentric longitudinal cohorts of patients with early multiple sclerosis ( n = 309 discovery and n = 232 validation), we were able to identify three distinct peripheral blood immunological endophenotypes by a combination of high-dimensional flow cytometry and serum proteomics, followed by unsupervised clustering...
March 27, 2024: Science Translational Medicine
#19
JOURNAL ARTICLE
Gregory Oxenkrug, Brent Forester
INTRODUCTION: Limited clinical efficiency of current medications warrants search for new antipsychotic agents. Deorphanized G-protein coupled receptor (GPR)109A has not attracted much of attention of schizophrenia researchers. We analyzed literature and our data on endogenous agonists of GPR109A, beta-hydroxybutyrate (BHB), anthranilic (AA), butyric (BA), and nicotinic (NA) acids, in individuals with schizophrenia. DATA: Sex specific differences: plasma AA levels were 27% higher in female than in male patients and correlated with PANSS before 6 weeks of antipsychotics treatment ( r = ...
2024: International Journal of Tryptophan Research: IJTR
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JOURNAL ARTICLE
Hideo Hagihara, Hirotaka Shoji, Satoko Hattori, Giovanni Sala, Yoshihiro Takamiya, Mika Tanaka, Masafumi Ihara, Mihiro Shibutani, Izuho Hatada, Kei Hori, Mikio Hoshino, Akito Nakao, Yasuo Mori, Shigeo Okabe, Masayuki Matsushita, Anja Urbach, Yuta Katayama, Akinobu Matsumoto, Keiichi I Nakayama, Shota Katori, Takuya Sato, Takuji Iwasato, Haruko Nakamura, Yoshio Goshima, Matthieu Raveau, Tetsuya Tatsukawa, Kazuhiro Yamakawa, Noriko Takahashi, Haruo Kasai, Johji Inazawa, Ikuo Nobuhisa, Tetsushi Kagawa, Tetsuya Taga, Mohamed Darwish, Hirofumi Nishizono, Keizo Takao, Kiran Sapkota, Kazutoshi Nakazawa, Tsuyoshi Takagi, Haruki Fujisawa, Yoshihisa Sugimura, Kyosuke Yamanishi, Lakshmi Rajagopal, Nanette Deneen Hannah, Herbert Y Meltzer, Tohru Yamamoto, Shuji Wakatsuki, Toshiyuki Araki, Katsuhiko Tabuchi, Tadahiro Numakawa, Hiroshi Kunugi, Freesia L Huang, Atsuko Hayata-Takano, Hitoshi Hashimoto, Kota Tamada, Toru Takumi, Takaoki Kasahara, Tadafumi Kato, Isabella A Graef, Gerald R Crabtree, Nozomi Asaoka, Hikari Hatakama, Shuji Kaneko, Takao Kohno, Mitsuharu Hattori, Yoshio Hoshiba, Ryuhei Miyake, Kisho Obi-Nagata, Akiko Hayashi-Takagi, Léa J Becker, Ipek Yalcin, Yoko Hagino, Hiroko Kotajima-Murakami, Yuki Moriya, Kazutaka Ikeda, Hyopil Kim, Bong-Kiun Kaang, Hikari Otabi, Yuta Yoshida, Atsushi Toyoda, Noboru H Komiyama, Seth G N Grant, Michiru Ida-Eto, Masaaki Narita, Ken-Ichi Matsumoto, Emiko Okuda-Ashitaka, Iori Ohmori, Tadayuki Shimada, Kanato Yamagata, Hiroshi Ageta, Kunihiro Tsuchida, Kaoru Inokuchi, Takayuki Sassa, Akio Kihara, Motoaki Fukasawa, Nobuteru Usuda, Tayo Katano, Teruyuki Tanaka, Yoshihiro Yoshihara, Michihiro Igarashi, Takashi Hayashi, Kaori Ishikawa, Satoshi Yamamoto, Naoya Nishimura, Kazuto Nakada, Shinji Hirotsune, Kiyoshi Egawa, Kazuma Higashisaka, Yasuo Tsutsumi, Shoko Nishihara, Noriyuki Sugo, Takeshi Yagi, Naoto Ueno, Tomomi Yamamoto, Yoshihiro Kubo, Rie Ohashi, Nobuyuki Shiina, Kimiko Shimizu, Sayaka Higo-Yamamoto, Katsutaka Oishi, Hisashi Mori, Tamio Furuse, Masaru Tamura, Hisashi Shirakawa, Daiki X Sato, Yukiko U Inoue, Takayoshi Inoue, Yuriko Komine, Tetsuo Yamamori, Kenji Sakimura, Tsuyoshi Miyakawa
Increased levels of lactate, an end-product of glycolysis, have been proposed as a potential surrogate marker for metabolic changes during neuronal excitation. These changes in lactate levels can result in decreased brain pH, which has been implicated in patients with various neuropsychiatric disorders. We previously demonstrated that such alterations are commonly observed in five mouse models of schizophrenia, bipolar disorder, and autism, suggesting a shared endophenotype among these disorders rather than mere artifacts due to medications or agonal state...
March 26, 2024: ELife
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