Use the keywords feature with a free QxMD account.
Use Read by QxMD to access full text via your institution or open access sources.
Read also provides personalized recommendations to keep you up to date in your field.
Existing User
Sign InNew to Read
Sign Up#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
JOURNAL ARTICLE
Jakob Woerner, Vivek Sriram, Yonghyun Nam, Anurag Verma, Dokyoon Kim
MOTIVATION: Many diseases, particularly cardiometabolic disorders, exhibit complex multimorbidities with one another. An intuitive way to model the connections between phenotypes is with a disease-disease network (DDN), where nodes represent diseases and edges represent associations, such as shared single-nucleotide polymorphisms (SNPs), between pairs of diseases. To gain further genetic understanding of molecular contributors to disease associations, we propose a novel version of the shared-SNP DDN (ssDDN), denoted as ssDDN+, which includes connections between diseases derived from genetic correlations with intermediate endophenotypes...
March 4, 2024: Bioinformatics
#16
JOURNAL ARTICLE
Juan Martin-Lagos, Alberto Bernal-Robledano, Patricia Perez-Carpena, Mar Lamolda, Alba Escalera-Balsera, Lidia Frejo, Jose A Lopez-Escamez
PURPOSE: To describe the clinical, audiological, and psychometric features observed in patients with chronic tinnitus and rare variants in the ANK2 gene. METHODS: We report a case series of 12 patients with chronic tinnitus and heterozygous variants in the ANK2 gene. Tinnitus phenotyping included audiological (standard and high-frequency audiometry, Auditory Brainstem Responses (ABR) and Auditory Middle Latency Responses (AMLR)), psychoacoustic and psychometric assessment by a Visual Analog Scale (VAS) for tinnitus annoyance, the Tinnitus Handicap Inventory (THI), the test on Hypersensitivity to Sound (THS-GÜF), the Patient Health Questionnaire (PHQ-9), the Hospital Anxiety and Depression Scale (HADS) and the Montreal Cognitive Assessment (MoCA)...
March 20, 2024: European Archives of Oto-rhino-laryngology
#17
JOURNAL ARTICLE
Tracy L Warren, Justin D Tubbs, Tyler A Lesh, Mylena B Corona, Sarvenaz S Pakzad, Marina D Albuquerque, Praveena Singh, Vanessa Zarubin, Sarah J Morse, Pak Chung Sham, Cameron S Carter, Alex S Nord
A primary goal of psychiatry is to better understand the pathways that link genetic risk to psychiatric symptoms. Here, we tested association of diagnosis and endophenotypes with overall and neurotransmitter pathway-specific polygenic risk in patients with early-stage psychosis. Subjects included 205 demographically diverse cases with a psychotic disorder who underwent comprehensive psychiatric and neurological phenotyping and 115 matched controls. Following genotyping, we calculated polygenic scores (PGSs) for schizophrenia (SZ) and bipolar disorder (BP) using Psychiatric Genomics Consortium GWAS summary statistics...
March 15, 2024: Molecular Psychiatry
#18
JOURNAL ARTICLE
Patricia Kipkemoi, Symon M Kariuki, Joseph Gona, Felicita Wangeci Mwangi, Martha Kombe, Collins Kipkoech, Paul Murimi, William Mandy, Richard Warrington, David Skuse, Charles R J C Newton, Amina Abubakar
INTRODUCTION: The precise epidemiological burden of autism is unknown because of the limited capacity to identify and diagnose the disorder in resource-constrained settings, related in part to a lack of appropriate standardised assessment tools and health care experts. We assessed the reliability, validity, and diagnostic accuracy of the Developmental Diagnostic Dimensional Interview (3Di) in a rural setting on the Kenyan coast. METHODS: Using a large community survey of neurodevelopmental disorders (NDDs), we administered the 3Di to 2,110 children aged between 6 years and 9 years who screened positive or negative for any NDD and selected 242 who had specific symptoms suggestive of autism based on parental report and the screening tools for review by a child and adolescent psychiatrist...
2024: Frontiers in Psychiatry
#19
JOURNAL ARTICLE
Decreased oxytocin levels related to social cognition impairment in borderline personality disorder.
Alejandra Galvez-Merlin, José M López-Villatoro, Pilar de la Higuera-González, Alejandro de la Torre-Luque, Karina McDowell, Marina Díaz-Marsá, Juan C Leza, José L Carrasco
INTRODUCTION: Dysfunctions in the oxytocin system have been reported in patients with borderline personality disorder (BPD). Deficits could be related to interpersonal hypersensitivity, which has been previously associated with failures in social cognition (SC) in this disorder, especially in Theory of Mind (ToM) skills. The aim of this work is to study the links between the oxytocin system and SC impairments in patients with BPD. METHOD: Plasma oxytocin levels (OXT) and protein expression of oxytocin receptors in blood mononuclear cells (OXTR) were examined in 33 patients with a diagnosis of BPD (age: M 28...
March 13, 2024: Acta Psychiatrica Scandinavica
#20
REVIEW
Denes V Agoston
Major determinants of the biological background or reserve, such as age, biological sex, comorbidities (diabetes, hypertension, obesity, etc.), and medications (e.g., anticoagulants), are known to affect outcome after traumatic brain injury (TBI). With the unparalleled data richness of coronavirus disease 2019 (COVID-19; ∼375,000 and counting!) as well as the chronic form, long-COVID, also called post-acute sequelae SARS-CoV-2 infection (PASC), publications (∼30,000 and counting) covering virtually every aspect of the diseases, pathomechanisms, biomarkers, disease phases, symptomatology, etc...
2024: Neurotrauma reports
Make the most of Read.
Download the mobile app.
Download the mobile app.
Fetching more papers... 
