Biomarkers in Neuropsychiatry最新文献

{"title":"Association among retinal health, self-reported depressive symptoms, and demographic, lifestyle and health markers: the META-KLS cohort analysis","authors":"Hannes M.X. Meilicke ,&nbsp;Ying Hui ,&nbsp;Jing Li ,&nbsp;Lejla Colic ,&nbsp;Shouling Wu ,&nbsp;Shuohua Chen ,&nbsp;Shun Zhang ,&nbsp;Rui Li ,&nbsp;Bin Lv ,&nbsp;Hongyang Li ,&nbsp;Martin Walter ,&nbsp;Zhenchang Wang ,&nbsp;Meng Li ,&nbsp;Guotong Xie ,&nbsp;Zhenjian Yu ,&nbsp;Xiaoliang Liang","doi":"10.1016/j.bionps.2024.100094","DOIUrl":"10.1016/j.bionps.2024.100094","url":null,"abstract":"<div><h3>Background</h3><p>Retinal health indices were suggested to be related to psychopathological symptoms, such as depressive symptoms. However, large-scale studies using optical coherence tomography (OCT) are missing to investigate the associations among them.</p></div><div><h3>Methods</h3><p>In the META-KLS cohort study, 1456 participants (mean age [standard deviation]= 54.6 [11.91] years; n= 680 [47.8%] women) completed the Patient Health Questionnaire (PHQ-9) to measure depressive symptoms and underwent OCT. Poor-quality OCTs and multivariate outliers were excluded, and principal component analysis was performed to obtain retinal health indices separately for macular (n= 930) and optic nerve head (ONH) thicknesses (n= 800). Linear regressions were run controlling for covariates. Exploratory interaction models were run with demographic, lifestyle and health markers.</p></div><div><h3>Results</h3><p>Although there were no direct significant associations between the retinal indices and depressive symptoms (macular: B= −0.05, 95% CI= [-0.15, 0.05], p= 0.32; ONH index: B= -0.02, 95% CI= [-0.11, 0.08], p= 0.71), their associations were moderated by demographic and health factors, <em>e.g.</em>, C-reactive protein (CRP) (macular index: B= −0.03, 95% CI= [-0.05, −0.01], p= 0.002; ONH index: B= 0.05, 95% CI= [0.02, 0.08], p= 0.002).</p></div><div><h3>Limitations</h3><p>Study was cross-sectional and there were no functional assessments of vision.</p></div><div><h3>Conclusions</h3><p>In a large cohort, we observed associations between retinal indices and self-reported depressive symptoms depending on demographic and health factors, notably CRP. Following up, the study will investigate the prospective prediction of retinal health on depressive symptoms, especially in persons who may have chronic inflammation.</p></div>","PeriodicalId":52767,"journal":{"name":"Biomarkers in Neuropsychiatry","volume":"10 ","pages":"Article 100094"},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2666144624000121/pdfft?md5=d5702477d03ce2ecaa9b78a63f69befe&pid=1-s2.0-S2666144624000121-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140777183","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":"2024-06-01","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":"Association of ABO blood types with psychiatric disorders: Potential biomarkers of genetic susceptibility?","authors":"Ishani Paul,&nbsp;Henry A. Nasrallah","doi":"10.1016/j.bionps.2023.100076","DOIUrl":"https://doi.org/10.1016/j.bionps.2023.100076","url":null,"abstract":"<div><h3>Background</h3><p>Published reports have suggested associations between ABO blood type and various medical conditions such as duodenal ulcers or stomach carcinomas. Studies have also linked this blood type to preoperative anxiety, indicating a possible psychiatric connection. This prompted us to review the literature for possible associations between blood types and one or more psychiatric disorders in controlled studies.</p></div><div><h3>Methods</h3><p>Using search engines including PubMed and Google Scholar, we used the key words “ABO blood types”, “depression”, “anxiety”, “schizophrenia”, “bipolar disorder”, “dementia” and “psychiatric disorder” to collect published controlled studies on this topic.</p></div><div><h3>Results</h3><p>Eighteen reports were identified, which investigated the association between blood types and various psychiatric disorders. Some studies reported that the AB blood type was correlated with higher levels of anxiety and cognitive impairment. Another study found that individuals with bipolar or unipolar affective disorder had a higher prevalence of type O blood and a significantly lower rate of type A blood. However, patients with involutional depression were reported to have a higher rate of type A blood and significantly lower rate of type O. None of the blood types were found to have any significant association with risk for dementia, nor were there any significant differences in blood type between those with schizophrenia and healthy controls. Several studies also reported negative findings between blood type and the occurrence of different affective disorders.</p></div><div><h3>Discussion</h3><p>The studies in this review suggest a possible connection between ABO blood types and certain psychiatric disorders, as well as highlight the controversy in this field of research. How blood types predispose to some mental disorders has not been fully explored and warrants further investigation.</p></div>","PeriodicalId":52767,"journal":{"name":"Biomarkers in Neuropsychiatry","volume":"9 ","pages":"Article 100076"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50187492","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reliability of resting-state electrophysiology in fragile X syndrome","authors":"Rui Liu ,&nbsp;Ernest V. Pedapati ,&nbsp;Lauren M. Schmitt ,&nbsp;Rebecca C. Shaffer ,&nbsp;Elizabeth G. Smith ,&nbsp;Kelli C. Dominick ,&nbsp;Lisa A. DeStefano ,&nbsp;Grace Westerkamp ,&nbsp;Paul Horn ,&nbsp;John A. Sweeney ,&nbsp;Craig A. Erickson","doi":"10.1016/j.bionps.2023.100070","DOIUrl":"10.1016/j.bionps.2023.100070","url":null,"abstract":"<div><h3>Objective</h3><p>Fragile X Syndrome (FXS) is the leading monogenic cause of intellectual disability and autism spectrum disorder. Currently, there are no established biomarkers for predicting and monitoring drug effects in FXS, and no approved therapies are available. Previous studies have shown electrophysiological changes in the brain using electroencephalography (EEG) in individuals with FXS and animal models. These changes may be influenced by drug therapies. In this study, we aimed to assess the reliability of resting-state EEG measures in individuals with FXS, which could potentially serve as a biomarker for drug discovery.</p></div><div><h3>Methods</h3><p>We collected resting-state EEG data from 35 individuals with FXS participating in placebo-controlled clinical trials (23 males, 12 females; visit age mean+/-std 25.6 +/−8.3). The data were analyzed for various spectral features using intraclass correlation analysis to evaluate test-retest reliability. The intervals between EEG recordings ranged from same-day measurements to up to six weeks apart.</p></div><div><h3>Results</h3><p>Our results showed high reliability for most spectral features, with same-day reliability exceeding 0.8. Features of interest demonstrated ICC values of 0.60 or above at longer intervals. Among the features, alpha band relative power exhibited the highest reliability.</p></div><div><h3>Conclusion</h3><p>These findings indicate that resting-state EEG can provide consistent and reproducible measures of brain activity in individuals with FXS. This supports the potential use of EEG as an objective biomarker for evaluating the effects of new drugs in FXS.</p></div><div><h3>Significance</h3><p>The reliable measurements obtained from power spectrum-based resting-state EEG make it a promising tool for assessing the impact of small molecule drugs in FXS.</p></div>","PeriodicalId":52767,"journal":{"name":"Biomarkers in Neuropsychiatry","volume":"9 ","pages":"Article 100070"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43207735","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neural correlates of severity in major depressive disorder: A combined structural and resting-state functional MRI study","authors":"Xiaoliu Zhang ,&nbsp;Jun Cao ,&nbsp;Xiaorong Chen ,&nbsp;Qian Huang ,&nbsp;Su Hong ,&nbsp;Jianmei Chen ,&nbsp;Ming Ai ,&nbsp;Yao Gan ,&nbsp;Jinglan He ,&nbsp;Li Kuang","doi":"10.1016/j.bionps.2023.100072","DOIUrl":"10.1016/j.bionps.2023.100072","url":null,"abstract":"<div><p>Major depressive disorder (MDD) is a disabling and severe psychiatric disorder with high risk of suicide, and adulthood is one of the most probable period for the onset. The neural basis underlying the young adults with MDD remains underexplored. In this study, we have investigated the cortical and subcortical alterations of neuroanatomical structures and functional activation in twenty-three young depressive patients with suicide attempt versus forty-five healthy controls. Significant disruptions of regional gray matter volume at left middle frontal extending to superior frontal involved with cognitive processing were found correlated with anxiety scores in MDD patients. Increased cortical thickness at right orbital frontal responsible for decision making was correlated with severity of suicide. Further, increased functional activation at left auditory association cortex was a hallmark of hallucinations in MDD, which was directly associated with depression severity. Moreover, decreased spontaneous brain activity at right inferior frontal was also found, reflecting lower inhibition control in MDD patients. The abnormal structural and functional findings at fronto-cortical areas implied the dysfunctional cognitive control and emotion regulation in MDD. The alterations correlated with clinical scores might indicate the reliable neural markers for MDD.</p></div>","PeriodicalId":52767,"journal":{"name":"Biomarkers in Neuropsychiatry","volume":"9 ","pages":"Article 100072"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43421341","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Can neurocognitive assessment be a lower-cost substitute for biomarkers in predicting progression from mild cognitive impairment (MCI) to Alzheimer’s disease (AD)? A narrative review","authors":"Lea Daou ,&nbsp;Alaeddine El Alayli ,&nbsp;Fadi Constantinos ,&nbsp;Georgette Dib ,&nbsp;Marc Barakat","doi":"10.1016/j.bionps.2023.100069","DOIUrl":"https://doi.org/10.1016/j.bionps.2023.100069","url":null,"abstract":"<div><p>The challenge to find the best predictors of conversion from Mild Cognitive Impairment (MCI) to Alzheimer’s disease (AD) has been ongoing at least for the last decade. Nonetheless, clinicians still lack, to date, a robust predictive tool for identifying individuals who will go through this conversion. In this narrative review, we reported the sensitivity and specificity of biomarkers and neurocognitive assessment in predicting the progression from MCI to AD. Given that biomarkers do not necessarily provide a better predictive accuracy as showcased by the numbers in this study, cognitive tests seem like a more cost-effective, less invasive, and easily accessible option. They also offer the added benefit of measuring functional cognitive impairment. However, it remains clear that efforts are still needed to come up with more accurate, sensitive, and specific predictors.</p></div>","PeriodicalId":52767,"journal":{"name":"Biomarkers in Neuropsychiatry","volume":"9 ","pages":"Article 100069"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50187067","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Basal ganglia atrophy as a marker of multiple sclerosis progression","authors":"Artem Trufanov ,&nbsp;Alexander Krasichkov ,&nbsp;Alexey Polushin ,&nbsp;Dmitry Skulyabin ,&nbsp;Aleksandr Efimtsev ,&nbsp;Igor Litvinenko ,&nbsp;Evgeniya Kuznetsova ,&nbsp;Dmitrii Medvedev ,&nbsp;Gennady Bisaga","doi":"10.1016/j.bionps.2023.100073","DOIUrl":"10.1016/j.bionps.2023.100073","url":null,"abstract":"<div><p>This study presents the findings of the magnetic resonance morphometric analysis of brain subcortical structures in patients with remitting relapsing multiple sclerosis (RRMS) and secondary progressive multiple sclerosis (SPMS) phenotypes in comparison with the control group. The study revealed significant differences between the volume of the left nucleus accumbens [control:RRMS= 570,108 ± 100,024:487,851 ± 124,174; F(p) ANOVA= &lt;0001] and the volume of the left globus pallidus [control:RRMS= 2076,247 ± 290,695: 1855,851 ± 280,476; F(p) ANOVA= &lt;0001] in patients with the relapsing remitting phenotype. Patients with the secondary progressive phenotype showed a statistically valid decrease in volume for multiple subcortical structures: the left caudate nucleus [control:SPMS= 3686,500 ± 501,966:3108,946 ± 565,138; F(p) ANOVA= 0.001], right caudate nucleus [control:SPMS= 3772,550 ± 508,087:3242,292 ± 650,215; F(p) ANOVA= 0003], left putamen [control:SPMS= 5130,781 ± 547,844: 4164,967 ± 1076,993; F(p) ANOVA= &lt;0001], right putamen [control:SPMS= 5096,303 ± 611,397: 4281,046 ± 1100,752; F(p) ANOVA= 0001], left globus pallidus [control:SPMS= 2076,247 ± 290.696:1800,913 ± 296,609; F(p) ANOVA= &lt;0001], left nucleus accumbens [control:SPMS= 570,108 ± 100,024;458,904 ± 131,690; F(p) ANOVA= 0001], right nucleus accumbens [control:SPMS= 587,567 ± 100,542: 447,375 ± 103,687; F(p) ANOVA= &lt;0001]. The increase in EDSS was significantly correlated with the decrease in right nucleus accumbens in both RRMS and SPMS. The investigation revealed potential subcortex structures (nucleus accumbens) that could be considered as markers for the transition of RRMS to SPMS.</p></div>","PeriodicalId":52767,"journal":{"name":"Biomarkers in Neuropsychiatry","volume":"9 ","pages":"Article 100073"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42634892","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cerebrospinal fluid biomarkers for normal pressure hydrocephalus","authors":"Derya Kaya,&nbsp;Ahmet Turan Isik","doi":"10.1016/j.bionps.2023.100071","DOIUrl":"https://doi.org/10.1016/j.bionps.2023.100071","url":null,"abstract":"<div><p>Idiopathic normal pressure hydrocephalus (iNPH) is a potentially reversible disease characterized by gait disturbance, a frontal-subcortical pattern of cognitive impairment, and urinary incontinence with disproportionately enlarged ventricles. Its prevalence rises with aging. Patients with iNPH are treated with shunt placement, and predicting the surgical outcome is not always easy. Cerebrospinal fluid (CSF) has inevitably been an attractive matrix for biomarker identification in both the diagnosis and treatment of iNPH and the disease may have individual CSF composition changes. Additionally, in order to detect iNPH earlier, implement treatment faster, and have better therapeutic effects, the incorporation of CSF biomarkers in the diagnostic and treatment process is essential. In this review, CSF biomarkers of Alzheimer’s disease pathology, axonal damage, neuronal damage, astroglial dysfunction, myelin damage, inflammation, and extracellular matrix protein remodeling have been evaluated and tried to emphasize those of which have highly consistent findings in the studies. CSF samples collected only at a single time point may not be sufficient to identify a promising marker in such a dynamic and used to be a common comorbid condition to other neurodegenerative diseases. These confounders demonstrate the limitations of using solely biomarkers to diagnose the disease and to foresee the outcome of the shunt surgery. Therefore, CSF samples collected antemortem at different time points and biopsy-confirmed iNPH patients with and without other neurodegenerative diseases would fill the gaps in identifying a valid biomarker. Longitudinal observations of shunt responders and non-responders in multicenter with well-defined cohorts are also needed to understand iNPH-specific markers. Finally, biomarkers of a bioinformatic approach that includes micro-RNAs, extracellular vesicles, metabolomics, the microbiome, or else are warranted to identify novel and useful diagnostic and prognostic biomarker tools in iNPH.</p></div>","PeriodicalId":52767,"journal":{"name":"Biomarkers in Neuropsychiatry","volume":"9 ","pages":"Article 100071"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50187064","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","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":"Association between HOTAIR genetic variants and risk of obsessive-compulsive disorder","authors":"Arezou Sayad ,&nbsp;Bashdar Mahmud Hussen ,&nbsp;Solat Eslami ,&nbsp;Soudeh Ghafouri-Fard ,&nbsp;Mohammad Taheri","doi":"10.1016/j.bionps.2023.100079","DOIUrl":"https://doi.org/10.1016/j.bionps.2023.100079","url":null,"abstract":"<div><p><em>HOX transcript antisense intergenic RNA</em> (<em>HOTAIR</em>) is a long non-coding RNA with important roles in regulation of autophagy, neurite growth and morphogenesis. Polymorphisms within this gene have been associated with some neuropsychiatric conditions. In the current case-control study, we investigated associations between obsessive-compulsive disorder (OCD) and four single nucleotide polymorphism within this gene, namely rs12826786, rs4759314, rs1899663 and rs920778. There was significant difference in genotype distribution of rs920778 between OCD patients and normal controls (<em>P</em> value = 0.01). rs920778 was associated with risk of OCD in co-dominant model (TT versus CC) in both un-adjusted and adjusted by sex analyses (OR (95 % CI) = 0.66 (0.49–0.88), <em>P</em> value = 0.005 and OR (95 % CI) = 0.63 (0.44–0.91), <em>P</em> value = 0.014, respectively). This SNP was associated with OCD in dominant model (TT+TC versus CC) only in un-adjusted analysis (OR (95 % CI) = 0.52 (0.31–0.88), <em>P</em> value = 0.015). Finally, this SNP was associated with OCD in over-dominant model (CC+TT versus TC) in both un-adjusted and adjusted by sex analyses (OR (95 % CI) = 2.38 (1.33–4.25), <em>P</em> value = 0.003 and OR (95 % CI) = 2.78 (1.31–5.89), <em>P</em> value = 0.008, respectively). The current study shows possible impact of rs920778 on risk of OCD in Iranian population.</p></div>","PeriodicalId":52767,"journal":{"name":"Biomarkers in Neuropsychiatry","volume":"9 ","pages":"Article 100079"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2666144623000199/pdfft?md5=afb5fe3a6c26e1882d00bb5d11336c23&pid=1-s2.0-S2666144623000199-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134656614","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}