Biomarkers in Neuropsychiatry最新文献

{"title":"Football-related concussions and head impacts are associated with changes in retinal structure and signaling","authors":"Steven M. Silverstein ,&nbsp;Jason Atlas ,&nbsp;Mia Young ,&nbsp;Lyvia Bertolace ,&nbsp;Iwona Juskiewicz ,&nbsp;Kian Merchant-Borna ,&nbsp;Sarah Dermady ,&nbsp;Yonatan Abrham ,&nbsp;Kyle Green ,&nbsp;Jeff Bazarian ,&nbsp;Rajeev S. Ramchandran ,&nbsp;Brian P. Keane","doi":"10.1016/j.bionps.2024.100091","DOIUrl":"https://doi.org/10.1016/j.bionps.2024.100091","url":null,"abstract":"<div><p>Subconcussive head hits (SHH) are common in contact sport athletes and are predictive of the later development of cognitive and brain changes, including chronic traumatic encephalopathy. In this pilot study we determined whether a history of concussion, and SHH acquired during a single season of college football, were associated with changes on retinal biomarkers of central nervous system (CNS) structure and function. College football players with a history of concussion (FB+C; n=9) or without a concussion history (FB-C; n=11), and non-contact sport collegiate athletes (Track/Swim; n=12) underwent visual and cognitive testing, retinal imaging (optical coherence tomography (OCT) and OCT angiography (OCTA)), and electroretinography (ERG) at three time points: pre-season, post-season and 4-month follow-up. The FB+C group demonstrated thicker maculae and exaggerated ERG waveforms (from all retinal neural cell types) compared to the other groups. These changes were generally observed at all timepoints, suggesting long-term changes associated with concussions, rather than effects of recent football activity. However, we also observed significant relationships between the number of head impacts during the season and stronger ERG responses, degree of macula thickening, enlargement of optic disc parameters, and increases in the density of retinal microvasculature relative to controls. These data suggest that retinal biomarkers are sensitive to both long- and short-term CNS changes related to participation in football, even in young athletes.</p></div>","PeriodicalId":52767,"journal":{"name":"Biomarkers in Neuropsychiatry","volume":"10 ","pages":"Article 100091"},"PeriodicalIF":0.0,"publicationDate":"2024-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2666144624000091/pdfft?md5=b75c50e6a5c23938220b1844ba9869e4&pid=1-s2.0-S2666144624000091-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140351148","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Candidate gene polymorphisms and clinical implications of the use of psychostimulants in adults with mood or attentional deficit disorders: A systematic review","authors":"Nicolas A. Nuñez ,&nbsp;Sofia Jezzini-Martinez ,&nbsp;Ada Man-Choi Ho ,&nbsp;Manuel Gardea-Resendez ,&nbsp;Larry J. Prokop ,&nbsp;Balwinder Singh ,&nbsp;Paola Margarita Robledo-Atilano ,&nbsp;Francisco Romo-Nava ,&nbsp;Marin Veldic ,&nbsp;Susan L. McElroy ,&nbsp;Mark A. Frye ,&nbsp;Alfredo B Cuellar-Barboza","doi":"10.1016/j.bionps.2024.100092","DOIUrl":"https://doi.org/10.1016/j.bionps.2024.100092","url":null,"abstract":"<div><h3>Introduction</h3><p>Psychostimulants are FDA-approved for treating attention deficit hyperactivity disorder (ADHD). They are often prescribed off-label for mood disorders (in the majority of cases for augmentation of major depressive disorder [MDD] or treatment-resistant cases) with particular concerns in patients with comorbid ADHD and bipolar disorder (BD). We aimed to systematically appraise the current knowledge on genetic associations of psychostimulant treatment responses for mood disorders and ADHD.</p></div><div><h3>Methods</h3><p>A comprehensive search was conducted from database inception until March 21st, 2023. We included randomized controlled studies and non-randomized studies of intervention in adults (&gt;18 years) with a DSM-IV/DSM-5 diagnosis of MDD, BD, or ADHD. We specifically included studies that reported the use of psychostimulants (e.g., methylphenidate [MPH]) and explored genetic associations with dopamine receptors and transporters (<em>DRD4, DRD2, SLC6A3)</em> reuptake inhibitors, norepinephrine transporters (<em>SLC6A2</em>) and serotonin transporters (<em>SLC6A4</em>).</p></div><div><h3>Results</h3><p>We identified and screened 1,479 abstracts and selected 17 articles for full-text review. Five studies met the inclusion criteria (N=498; mean age 37.13±12.26), including two randomized controlled trials (n= 121, mean age 41.16±14.86) which analyzed genetic polymorphisms in <em>SLC6A3</em> and <em>SLC6A4</em>. Three non-randomized intervention studies were included: one study (n=171, mean age 35±11) analyzed several <em>SLC6A3</em> variants, and two studies (n=206, mean age 36.5±11.01) analyzed <em>DRD4, SLC6A3</em>, and <em>SLC6A4</em> variants. Evidence from the selected studies did not consistently show statistically significant differences in treatment response for either MDD or ADHD in association with genetic polymorphisms. No studies evaluating BD were found, and MPH was the only psychostimulant assessed in the selected articles. The most reported adverse events were moderate nausea, anxiety, and polyuria, with a higher percentage for headaches (38.1%), gastrointestinal complaints (21.2%), and decreased appetite (19.08%). None of the included studies reported serious adverse events which required discontinuation.</p></div><div><h3>Conclusion</h3><p>Further research is necessary to determine the implications of genetic polymorphisms on clinical response to stimulants with mood disorders and ADHD. Moreover, studies examining a broader range of stimulant medications as well as duration/dose of treatment, including individuals with BD, are crucial to understanding possible genetic influences on treatment response with the potential to inform personalized treatment strategies-optimization of interventions for individuals with mood disorders and ADHD.</p></div>","PeriodicalId":52767,"journal":{"name":"Biomarkers in Neuropsychiatry","volume":"10 ","pages":"Article 100092"},"PeriodicalIF":0.0,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2666144624000108/pdfft?md5=f9d51b8eb25ce15a16792ff58fd5412f&pid=1-s2.0-S2666144624000108-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140539395","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prediction of psychotic disorder in individuals with clinical high-risk state by multimodal machine-learning: A preliminary study","authors":"Yoichiro Takayanagi ,&nbsp;Daiki Sasabayashi ,&nbsp;Tsutomu Takahashi ,&nbsp;Yuko Higuchi ,&nbsp;Shimako Nishiyama ,&nbsp;Takahiro Tateno ,&nbsp;Yuko Mizukami ,&nbsp;Yukiko Akasaki ,&nbsp;Atsushi Furuichi ,&nbsp;Haruko Kobayashi ,&nbsp;Mizuho Takayanagi ,&nbsp;Kyo Noguchi ,&nbsp;Noa Tsujii ,&nbsp;Michio Suzuki","doi":"10.1016/j.bionps.2024.100089","DOIUrl":"https://doi.org/10.1016/j.bionps.2024.100089","url":null,"abstract":"<div><p>Objective markers which can reliably predict psychosis transition among individuals with at-risk mental state (ARMS) are warranted. In this study, sixty-five ARMS subjects [of whom 17 (26.2%) later developed psychosis] were recruited, and we performed supervised linear support vector machine (SVM) with a variety of combinations of.modalities (clinical features, cognition, structural magnetic resonance imaging, eventrelated.potentials, and polyunsaturated fatty acids) to predict future psychosis onset. While single-modality SVMs showed a poor to fair accuracy, multi-modal SVMs revealed better predictions, up to 0.88 of the balanced accuracy, suggesting the advantage of multi-modal machine-learning methods for forecasting psychosis onset in ARMS.</p></div>","PeriodicalId":52767,"journal":{"name":"Biomarkers in Neuropsychiatry","volume":"10 ","pages":"Article 100089"},"PeriodicalIF":0.0,"publicationDate":"2024-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2666144624000078/pdfft?md5=2493a84bb92816fb52e5be58d85cd229&pid=1-s2.0-S2666144624000078-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140320430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Electroretinographic dysfunction, insulin resistance, and childhood trauma in early-course psychosis: A case-control exploratory study","authors":"Erik Velez-Perez ,&nbsp;Nicolas Raymond ,&nbsp;Chelsea Kiely ,&nbsp;Willa Molho ,&nbsp;Rebekah Trotti ,&nbsp;Caroline Harris ,&nbsp;Deepthi Bannai ,&nbsp;Rachal Hegde ,&nbsp;Sarah Herold ,&nbsp;Matcheri Keshavan ,&nbsp;Steven Silverstein ,&nbsp;Paulo Lizano","doi":"10.1016/j.bionps.2024.100088","DOIUrl":"https://doi.org/10.1016/j.bionps.2024.100088","url":null,"abstract":"<div><h3>Background</h3><p>Electroretinographic dysfunction is observed in psychosis, with a-wave and b-wave amplitudes potentially serving as biomarkers. Insulin resistance (IR) and childhood trauma (CT) have also been associated with psychosis-spectrum disorders, particularly schizophrenia. Electroretinographic dysfunction in early-course psychosis (EP) lacks exploration. This case-control exploratory study aimed to understand electroretinographic dysfunction in EP and its relationship with IR and CT.</p></div><div><h3>Methods</h3><p>The study involved healthy controls (<em>n</em>=13) and EP individuals (<em>n</em>=14) and included photopic and scotopic flash-electroretinography (fERG), blood collection for IR assessment, and the Childhood Trauma Questionnaire (CTQ). Data were analyzed using SPSS v.29.0. Case-control differences across fERG conditions were explored using repeated-measures ANCOVA (3 flash conditions X 2 groups) adjusted for gender and age. Sub-analyses included Fisher’s, Mann-Whitney, partial correlations, and logistic and linear regressions.</p></div><div><h3>Results</h3><p>Compared to controls, EP participants showed (1) lower photopic a-wave and b-wave amplitudes, specifically in the left eye and under the P₁ condition, (2) greater odds for IR, and (3) higher CTQ scores. IR was associated with a higher CTQ score and a lower P_2b amplitude. A higher CTQ score was associated with lower P_2b amplitude in the left eye when adjusting for its interacting effect with IR.</p></div><div><h3>Conclusion</h3><p>These findings suggest lower photopic a-wave and b-wave amplitudes, IR, and CT are explanatory markers in EP. CT may dysregulate the hypothalamic-pituitary-adrenal axis, increasing the risk of experiencing later-life psychosis. IR might be a biomarker in psychosis, contributing to electroretinographic dysfunction and neurodegeneration of cone post-synaptic cells. Further investigations are needed.</p></div>","PeriodicalId":52767,"journal":{"name":"Biomarkers in Neuropsychiatry","volume":"10 ","pages":"Article 100088"},"PeriodicalIF":0.0,"publicationDate":"2024-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2666144624000066/pdfft?md5=d5f15b7d1cae44d215c30cb7eef40f47&pid=1-s2.0-S2666144624000066-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140160587","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between ACE gene polymorphisms and risk of suicide","authors":"Soudeh ghafouri-fard ,&nbsp;Reyhane Eghtedarian ,&nbsp;Elham badrlou ,&nbsp;Solat eslami ,&nbsp;Mohammad taheri ,&nbsp;Serge brand","doi":"10.1016/j.bionps.2024.100087","DOIUrl":"https://doi.org/10.1016/j.bionps.2024.100087","url":null,"abstract":"<div><p>Suicide is a health problem associated with a number of genetic factors. Genetics polymorphisms in several signaling pathways have been shown in the pathophysiology of suicidal behavior. Variants of the angiotensin converting enzyme (ACE) have been demonstrated to affect risk of some neuropsychiatric conditions and suicide attempt. In the current study, we assessed association between <em>ACE</em> rs4646994, rs1799752 and rs4359 polymorphisms and risk of suicide behavior in a population of Iranian patients attempted suicide (320 individuals who attempted suicide with soft methods and 230 suicide victims) and 300 healthy controls. Polymorphisms were genotyped using tetra-ARMS-PCR method. Data was analyzed using SPSS v.22.0. The rs4359 was associated with successful suicide under co-dominant model in a way that TC genotype was identified as a risk genotype (OR (95% CI)= 1.86 (1.26–2.75), P value=-0.02). In dominant model, TT+TC genotypes were associated with higher risk of successful suicide in comparison with CC genotype (OR (95% CI)= 1.71 (1.18–2.47), P value=-0.04). In over-dominant model, TT+CC genotypes were associated with lower risk in comparison with TC genotype (OR (95% CI)= 0.58 (0.41–0.83), P value=-0.03). rs1799752 was associated with higher risk of successful suicide under co-dominant, recessive and over-dominant models. In co-dominant model, while ID genotype increased the risk (OR (95% CI)= 2 (1.37–2.99), P value=0.003), II genotype decreased the risk (OR (95% CI)= 0.2 (0.09–0.45), P value&lt;0.0001) in comparison with DD genotype). In recessive model, II genotype was associated with lower risk in comparison with total sum of the other genotypes (OR (95% CI)= 0.14 (0.07–0.28), P value&lt;0.0001). The rs4646994 was not associated with risk of successful suicide. Besides, rs4359 was associated with risk of suicide attempt under over-dominant model in a way that TT+CC genotypes decreased risk of suicide attempt (OR (95% CI)= 0.67 (0.48–0.93), P value=0.04). rs1799752 was associated with risk of suicide attempt under co-dominant and recessive models in a way that II genotype conferred lower risk of suicide attempt (OR (95% CI)= 0.53 (0.34–0.83), P value=0.03). Finally, rs4646994 was associated with risk of suicide attempt in all models except for recessive model. I allele of this SNP increased risk of suicide attempt (OR (95% CI)= 1.47 (1.15–1.88), P value=0.018). Taken together, <em>ACE1</em> gene can be considered as a risk locus for suicide behavior among Iranians.</p></div>","PeriodicalId":52767,"journal":{"name":"Biomarkers in Neuropsychiatry","volume":"10 ","pages":"Article 100087"},"PeriodicalIF":0.0,"publicationDate":"2024-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2666144624000054/pdfft?md5=c91b13c0d4a02b2a0c801d3dc7dab3a5&pid=1-s2.0-S2666144624000054-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140069591","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Are neurodevelopmental structural pathologies of the insula potential biomarkers for schizophrenia risk?","authors":"Susanna Gebhardt,&nbsp;Henry A. Nasrallah","doi":"10.1016/j.bionps.2024.100086","DOIUrl":"10.1016/j.bionps.2024.100086","url":null,"abstract":"<div><p>The insula is a significant neural region associated with the development and clinical symptoms of schizophrenia. Here, we provide an overview of the role of the insula in a non-pathological context, as well as its function in schizophrenia, discussing how structural and functional changes to the insula can provide insight into the etiology of schizophrenia and contribute to potential therapeutic intervention.</p></div>","PeriodicalId":52767,"journal":{"name":"Biomarkers in Neuropsychiatry","volume":"10 ","pages":"Article 100086"},"PeriodicalIF":0.0,"publicationDate":"2024-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2666144624000042/pdfft?md5=78ea40cb67d1ec6d2ba22b33ab8ab1a0&pid=1-s2.0-S2666144624000042-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139965599","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gut-brain axis system updates: Optimizing microbiome biomarkers for psychiatry and neurology","authors":"Emily G. Severance","doi":"10.1016/j.bionps.2024.100085","DOIUrl":"https://doi.org/10.1016/j.bionps.2024.100085","url":null,"abstract":"<div><p>Technological advances in nucleic acid sequencing in recent years effectively launched and propelled a new age of the microbiome. A mechanism known as the gut-brain axis has been adopted by psychiatric and neurological researchers, as another possible way to reconcile gene-by-environmental and other hypotheses of how serious brain disorders develop. Toward this end, the microbiome, may represent an informative biomarker, or series of biomarkers, of cellular, molecular, and metabolic pathways that are altered in disease. As with any field projected to be an enormous influence on the future of medicine, early studies of the microbiome are numerous and sometimes afflicted with study design and data quality issues. Some progress in these areas is underway, and here we provide a brief update of the current state of the microbiome with a focus on clinical studies and the quests to better understand mechanistically what functional outcomes in neuropsychiatric disorders might be mediated by microbes. We also review the concept of the microbiome biomarker as a dynamic and evolving measure that keeps improving as technology flourishes. <em>In vitro</em> gut systems that merge innervation and vascularization of epithelial organoids exemplify next-generation microbiome biomarkers.</p></div>","PeriodicalId":52767,"journal":{"name":"Biomarkers in Neuropsychiatry","volume":"10 ","pages":"Article 100085"},"PeriodicalIF":0.0,"publicationDate":"2024-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2666144624000030/pdfft?md5=b6b497657a3c8aceb87020525bc70605&pid=1-s2.0-S2666144624000030-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139936649","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Deep retinal layer microvasculature alterations in schizophrenia","authors":"Samantha I. Fradkin ,&nbsp;Deepthi Bannai ,&nbsp;Paulo Lizano ,&nbsp;Adriann Lai ,&nbsp;Christen Crosta ,&nbsp;Judy L. Thompson ,&nbsp;Steven M. Silverstein","doi":"10.1016/j.bionps.2024.100084","DOIUrl":"https://doi.org/10.1016/j.bionps.2024.100084","url":null,"abstract":"<div><p>A subset of individuals with schizophrenia (SZ) are thought to have a microvascular component to their illness with studies demonstrating alterations in retinal superficial, deep, and choroidal microvasculature networks. However, the direction and location of these alterations have differed across studies. In a recent study, we reported that individuals with SZ demonstrated lower superficial layer perfusion density than a healthy control (HC) group. The current study investigated characteristics of the deep vascular layer in SZ. We included 28 individuals with a diagnosis of SZ or schizoaffective disorder, and 37 HCs. Optical coherence tomography angiography (OCTA) data was collected to measure deep retinal layer perfusion density, skeletonized vessel density, vessel diameter index, and fractal dimension. We conducted between-group comparisons to examine differences in these OCTA variables between SZ and HC groups. A trend analysis was conducted to determine if differences reflected a linear trend according to age and illness length, and Spearman correlations were conducted to determine associations between deep and superficial layer density. Individuals with SZ demonstrated significantly lower bilateral perfusion density and vessel diameter index, as well as lower left eye skeletonized vessel density and fractal dimension. There was a significant linear trend in the data indicating that individuals with chronic SZ demonstrated the lowest OCTA values, followed by individuals within two years of their first episode of psychosis who did not differ from older controls, followed by younger controls, who demonstrated the highest values in at least one eye. Lower density values in the deep retinal layer were also significantly associated with lower density values in the superficial layer. Overall, results suggest that microvascular alterations are present in multiple retinal layers in SZ and that they may be useful visual system biomarkers of neurovascular changes in the disorder.</p></div>","PeriodicalId":52767,"journal":{"name":"Biomarkers in Neuropsychiatry","volume":"10 ","pages":"Article 100084"},"PeriodicalIF":0.0,"publicationDate":"2024-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2666144624000029/pdfft?md5=f414ab4ed0f1103eba610813e39bdef7&pid=1-s2.0-S2666144624000029-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139732796","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optometry in adults with microdeletion 22q11.2: The eye as a window to the brain","authors":"Emma N.M.M. von Scheibler ,&nbsp;Abhishek Appaji ,&nbsp;Tos T.J.M. Berendschot ,&nbsp;Noël J.C. Bauer ,&nbsp;Naren P. Rao ,&nbsp;Agnies M. van Eeghen ,&nbsp;Thérèse A.M.J. van Amelsvoort ,&nbsp;Erik Boot","doi":"10.1016/j.bionps.2023.100081","DOIUrl":"https://doi.org/10.1016/j.bionps.2023.100081","url":null,"abstract":"<div><h3>Purpose</h3><p>The 22q11.2 deletion syndrome (22q11.2DS) has an estimated prevalence of 1:2148 live births and is associated with an increased risk of schizophrenia, cognitive decline and early-onset Parkinson’s disease. Because retinal and cerebral tissue share embryological, physiological and anatomical characteristics, retinal blood vessel morphology and retinal nerve fiber layer (RNFL) thickness have been proposed as non-invasive biomarkers for psychiatric and neurodegenerative disorders. In this exploratory study, we examined these potential biomarkers in adults with 22q11.2DS relative to controls, and in relation to age.</p></div><div><h3>Methods</h3><p>Central retinal artery and vein equivalent, fractal dimension, and vascular tortuosity, obtained through fundoscopy, and peripapillary RNFL and macular thickness, obtained through optical coherence tomography, were compared between adults with 22q11.2DS and sex- and age-matched controls.</p></div><div><h3>Results</h3><p>Mean retinal vascular fractal dimension and tortuosity values were significantly higher in the group of adults with 22q11.2DS than in controls (p &lt; 0.001; p &lt; 0.001). RNFL was thicker in the nasal segment (p = 0.002) in 22q11.2DS, and a trend for thinner RNFL in the nasal and temporal inferior segments (p = 0.05 and p = 0.06, respectively) was found. There were significant negative correlations with age for fractal dimension (p &lt; 0.001) and RNFL thickness in the global (p = 0.007), temporal inferior (p = 0.005) and temporal superior (p = 0.04) segments in adults with 22q11.2DS, but not in controls.</p></div><div><h3>Conclusions</h3><p>Our results indicate higher retinal vascular fractal dimension and tortuosity, and a decrease in fractal dimension and RNFL thickness in relation to age in adults with 22q11.2DS. Our findings support future studies that focus on retinal fractal dimension and RNFL thickness as potential biomarkers for age-related manifestations in 22q11.2 including psychotic and (early) neurodegenerative disorders.</p></div>","PeriodicalId":52767,"journal":{"name":"Biomarkers in Neuropsychiatry","volume":"9 ","pages":"Article 100081"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2666144623000217/pdfft?md5=20faf34dbe8078d07ff554aa6e774f17&pid=1-s2.0-S2666144623000217-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138633492","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Abnormal level of VDR-associated lncRNAs in patients with multiple sclerosis","authors":"Shahrokh Janamiri ,&nbsp;Bashdar Mahmud Hussen ,&nbsp;Shaghayegh Heidari ,&nbsp;Mohammad Taheri ,&nbsp;Solat Eslami ,&nbsp;Mehdi Dadmehr ,&nbsp;Soudeh Ghafouri-Fard ,&nbsp;Somayeh Farahmand","doi":"10.1016/j.bionps.2023.100082","DOIUrl":"https://doi.org/10.1016/j.bionps.2023.100082","url":null,"abstract":"<div><p>Long non-coding RNAs (lncRNAs) influence pathoetiology of multiple sclerosis (MS). We identified expression levels of three vitamin D receptor-associated lncRNAs, namely <em>SNHG6</em>, <em>SNHG16</em> and <em>LINC00346</em> in the blood of MS patients compared with healthy subjects. <em>SNHG6</em> level was significantly lower in MS cases compared with controls (expression ratio (ER) (95 % CI)= 0.39 (0.22–0.69), P = 0.0015) and in female patients compared with female controls (ER (95 % CI)= 0.28 (0.13–0.59), P = 0.0001). <em>SNHG16</em> was also under-expressed in total MS patients compared with controls (ER (95 % CI)= 0.24 (0.1–0.57), P = 0.0001). <em>LINC00346</em> level was lower in entire patients versus controls (ER (95 % CI)= 0.03 (0.009–0.09), P &lt; 0.0001). Such down-regulation was also detected in patients of both sexes compared with corresponding controls (P = 0.0008 and &lt;0.0001 for males and females, respectively). There was no difference in expressions of <em>SNHG6</em>, <em>SNHG16</em> and <em>LINC00346</em> between male and female patients. There was no remarkable correlation between expressions of <em>SNHG6</em>, <em>SNHG16</em> and <em>LINC00346</em> lncRNAs and age, disease duration, age at onset or EDSS. <em>LINC00346</em> had the AUC values of 0.84, 0.82 and 0.94 in differentiation of total MS patients from total controls, female patients from healthy females and male patients from healthy males, respectively. <em>SNHG6</em> could separate female patients from female controls with AUC of 0.79. Finally, female patients from female controls could be separated by <em>SNHG16</em> levels with AUC of 0.73. Taken together, these lncRNAs might be proposed as putative peripheral markers for MS.</p></div>","PeriodicalId":52767,"journal":{"name":"Biomarkers in Neuropsychiatry","volume":"9 ","pages":"Article 100082"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2666144623000229/pdfft?md5=6ce761ab08837a2fb19cc7130366ea23&pid=1-s2.0-S2666144623000229-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138484083","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}