Healthy Control Group Research Articles

Prevalence of Theileria Equi and Babesia Caballi and Associated Hemato-Biochemical Changes in Racing Horses in Erbil Province, Iraq.

This study aimed to determine the prevalence of Theileria equi (T. equi) and Babesia caballi (B. caballi) in racing horses in Erbil Province, Iraq, and to assess the associated hemato-biochemical changes in infected animals. A total of 196 horses, including 155 clinically healthy and 41 clinically suspected infected animals, were examined using Giemsa-stained blood films and PCR to determine the prevalence rates. Additionally, the hemato-biochemical parameters of infected horses were compared to a non-infected control group (n = 10). The prevalence of T. equi and B. caballi was determined using two diagnostic methods. Giemsa-stained blood smear analysis revealed prevalence rates of 15.8% (31/196) for T. equi and 5.1% (10/196) for B. caballi. In comparison, conventional PCR targeting the 18S rRNA gene detected higher prevalence rates of 22.44% (44/196) for T. equi and 8.2% (16/196) for B. caballi. The prevalence of T. equi was significantly higher than that of B. caballi (P < 0.001). Infected horses exhibited significant hematological alterations, including microcytic anemia, with notable reductions in RBCs, Hb, and PCV, along with increased WBCs, lymphocytes and basophils compared to the healthy control group. Biochemical analysis revealed significant increases in AST, ALT, ALP, and total serum bilirubin, and decreases in total serum protein, albumin, calcium, and glucose in infected horses. These findings highlight the urgent need for heightened awareness, effective diagnostic methods, and targeted treatment strategies to combat equine piroplasmosis among racing horses in Erbil Province, Iraq.

Limited evidence of association between dysregulated immune marker levels and telomere length in severe mental disorders.

Accelerated ageing indexed by telomere attrition is suggested in schizophrenia spectrum- (SCZ) and bipolar disorders (BD). While inflammation may promote telomere shortening, few studies have investigated the association between telomere length (TL) and markers of immune activation and inflammation in severe mental disorders. Leucocyte TL defined as telomere template/amount of single-copy gene template (T/S ratio), was determined in participants with SCZ (N = 301) or BD (N = 211) and a healthy control group (HC, N = 378). TL was analysed with linear regressions for associations with levels of 12 immune markers linked to SCZ or BD. Adjustments were made for a broad range of potential confounding variables. TL was measured by quantitative polymerase chain reaction (qPCR) and the immune markers were measured by enzyme immunoassays. A positive association between levels of soluble tumour necrosis factor receptor 1A (sTNF-R1) and TL in SCZ (β = 0.191, p = 0.012) was observed. Plasma levels of the other immune markers were not significantly associated with TL in the BD, SCZ or HC groups. There was limited evidence of association between immune markers and TL in SCZ and BD. The results provide little support for involvement of immune dysregulation, as reflected by current systemic markers, in telomere attrition-related accelerated ageing in severe mental disorders.

Analysis of the effect of congenital unilateral trochlear nerve paresis on retinal vascular density: a retrospective study.

To use swept-source optical coherence tomography angiography (SS-OCTA) to investigate the alterations in retinal vascular density (VD) in patients presenting with congenital unilateral trochlear nerve palsy. The medical records of patients diagnosed with congenital unilateral trochlear nerve palsy and those of a healthy control group were reviewed retrospectively. Comprehensive ocular examinations and SS-OCTA imaging were conducted. The study population was divided into three subgroups of eyes: paretic eyes, fellow eyes, and controls. All participants underwent comprehensive ophthalmic examinations, which included assessments of ocular motility, refraction under cycloplegia, and axial length measurement. Various strabismus tests-the cover-uncover test, prism and alternate cover test, Krimsky test, and Parks-Bielschowsky test-were conducted to confirm the diagnosis and evaluate the extent of the condition. A total of 34 patients and 39 healthy controls were included. Sex and age distributions were similar between groups. Significant differences were observed in central VD of the superficial capillary plexus (SCP) and deep capillary plexus (DCP) between paretic eyes, fellow eyes, and control eyes. The fellow eye exhibited lower central VD compared to the paretic and control eyes. Inverse correlations between deviation angle and VD were noted in different SCP and DCP quadrants in paretic eyes. In our study cohort, there were significant changes in retinal VD in fellow eyes of patients with trochlear nerve palsy, which we speculate may be related to compensatory head position.

Identifying Neuro-inflammatory Biomarkers of Generalized Anxiety Disorder from Lymphocyte Subsets based on machine learning approaches.

Activation of the inflammatory response system is involved in the pathogenesis of generalized anxiety disorder (GAD). The purpose of this study was to identify and characterize inflammatory biomarkers in the diagnosis of GAD based on machine learning algorithms. The evaluation of peripheral immune parameters and lymphocyte subsets was performed on patients with GAD. Multivariable linear regression was used to explore the association between lymphocyte subsets and the of severity GAD. Receiver operator characteristic (ROC) analysis was used to determine the predictive value of these immunological parameters for GAD. Machine learning technology was applied to classify the collected data from patients in the GAD and healthy control groups. Of the 340 patients enrolled, 171 were GAD patients and 169 were non-GAD patients as healthy control. The levels of neutrophil (NEU), monocytes (MON) and systemic immune-inflammation index (SII) were significantly elevated in GAD patients (P<0.01), and the count and proportion of immune cells, including CD3+CD4+ T cells, CD3+CD8+ T cells, CD19+ B cells and CD3-CD16+CD56+ NK cells (P<0.001) have undergone large changes. The classification analysis conducted by machine learning using a weighted ensemble-L2 algorithm demonstrated an accuracy of 95.00±2.04% in assessing the predictive value of these lymphocyte subsets in GAD. In addition, the feature importance analysis score is 0.255, which was much more predictive of GAD severity than for other lymphocyte subsets. In the presented work, we show the level of lymphocyte subsets altered in GAD. Lymphocyte subsets, specifically CD3+CD4+ T %, can serve as neuroinflammatory biomarkers for GAD diagnostics. Furthermore, the application of machine learning offers a highly efficient approach for investigating neuroinflammatory biomarkers and predicting GAD. Our research has provided novel insights into the involvement of cellular immunity in GAD and highlighted the potential predictive value and therapeutic targets of lymphocyte subsets in this disorder.

Adherence to vaccination against SARS-CoV-2 and vaccine safety in patients with immunoglobulin G4-related disease.

To assess the adherence to the vaccination campaign against SARS-CoV-2 in patients with immunoglobulin-G4-related disease (IgG4-RD) and to evaluate the development of local and systemic adverse events (AEs) following vaccination. Additionally, to investigate the rate and outcome of SARS-CoV-2 infection in IgG4-RD patients. Patients with IgG4-RD in follow-up before the onset of the SARS-CoV-2 pandemic were contacted by telephone and asked to answer an ad hoc questionnaire regarding their vaccination status against SARS-CoV-2 and related AEs following vaccination. The occurrence and the outcome of SARS-CoV-2 infection were also recorded. The same questionnaire was proposed to healthy controls (HC). 20 patients and 40 HC were enrolled. In the patient's cohort, 90% were vaccinated with at least one dose; among them, 9 reported AEs: 44.4% systemic and 22.2% local. Within the HC group, 100% were vaccinated with at least one dose. 13 out of 40 HC had systemic AEs (50%), and 27 (67.5%) reported local AEs. Neither in IgG4-RD nor in HC, serious adverse reactions were observed. Among the patient's cohort, 60% contracted SARS-CoV-2 infection, and 41.67% were on immunosuppressants at the time of the infection. One patient presented with severe COVID-19. No disease flares following vaccination or infection were reported. Results from our study indicate a good adherence to the vaccination campaign against SARS-CoV-2 in patients with IgG4-RD and support a relatively good safety profile of this vaccine. Compared to controls, patients with IgG4-RD reported slightly more systemic AEs and fewer local AEs. A similar rate of COVID-19 development was observed between IgG4-RD patients and HC.

Oral microbiota among treatment-naïve adolescents with depression: A case-control study.

Adolescent depression has profound impacts on physical, cognitive, and emotional development. While gut microbiota changes have been linked to depression, the relationship between oral microbiota and depression remains elusive. Our study aims to investigate the oral microbiota in treatment-naïve adolescents experiencing depression and examine their potential associations with cognitive function. Our case-control study comprised two groups of adolescents aged 12-17: the depression group, including treatment-naïve individuals diagnosed with DSM-5 major depressive disorder (MDD), and a healthy control group of non-depressed individuals (HC). Participants underwent structured neuropsychiatric assessments, and fasting morning saliva samples were collected for the 16S rRNA sequencing to investigate the oral microbiota. Significant differences were identified in the α- and β-diversities of the oral microbiota between MDD and HC groups. Specific bacterial taxa, including genera Streptococcus, Neisseria, Hemophilus, Fusobacterium, and g_norank_f_norank_o_Absconditabacteriales_SR1, were significantly associated with MDD. The association extends to cognitive functions, where correlations were observed between certain oral bacteria and cognitive scores, including instant and delayed memory, visual breadth, and speech features for the combined MDD and HC individuals (p<0.05). Random forest analysis identified ten genera of oral microbes with the highest predictive values for MDD. The area under the curve (AUC) is 0.78 in the receiver operating characteristic (ROC) curve analysis. Our results highlight the oral microbiota's role as a biomarker for adolescent depression and its impact on cognitive functions. These insights underscore the need for further research into the links between oral health, mental health, and cognitive functions.

Assessing Glenoid Defects in Anterior Shoulder Instability: Comparison of a Simple Linear Formula Method With Traditional Methods Using 3-Dimensional Computed Tomography.

Anterior glenoid bone defects significantly influence surgical outcomes in shoulder instability cases. Various measurement methods based on 3-dimensional computed tomography (3D-CT) have been developed. Recently, the simple linear formula method, which establishes a correlation between glenoid height and width, has emerged as a promising technique. This study aimed to assess the differences in glenoid morphology between patients with anterior shoulder instability and healthy controls within a specific East Asian population (Han Chinese). The objectives included establishing linear formulas specific to both groups and comparing the efficacy of the simple linear formula method with traditional methods for measuring glenoid defects using 3D-CT. Cohort study (diagnosis); Level of evidence, 3. 3D-CT images of both the affected and unaffected shoulders of patients with anterior shoulder instability, as well as one shoulder of healthy controls, were analyzed. Glenoid height and width were measured, and linear formulas were established for this specific Han Chinese population. P values were determined using linear regression analysis to assess the statistical significance of the relationship between glenoid height (H) and width (W). A P value <.05 indicated a statistically significant relationship. R2 values were calculated to determine the strength of the relationship, with higher values (closer to 1) indicating a stronger correlation. The glenoid defect ratio was calculated using the simple linear formula method and compared with traditional methods: the Griffith, linear-based best-fit circle, and area-based best-fit circle methods. Interrater agreement was assessed using intraclass correlation coefficients (ICCs). There were 206 patients in the patient group and 206 participants in the healthy control group. In the patient group, the mean glenoid height and width of the unaffected shoulders were 35.21 ± 3.39 and 24.26 ± 2.74 mm, respectively (formula: W = 0.75H - 2.12; R2 = 0.86; P < .001). In the male patient subgroup, they were 37.57 ± 1.35 and 26.23 ± 0.91 mm, respectively (formula: W = 0.47H + 8.60; R2 = 0.79; P < .001). In the female patient subgroup, they were 31.63 ± 2.21 and 21.26 ± 1.65 mm, respectively (formula: W = 0.52H + 4.78; R2 = 0.74; P < .001). In the healthy control group, the mean glenoid height and width were 33.48 ± 3.32 and 24.18 ± 3.02 mm, respectively (formula: W = 0.86H - 4.58; R2 = 0.89; P < .001). In the male healthy control subgroup, they were 36.43 ± 1.35 and 26.89 ± 1.17 mm, respectively (formula: W = 0.67H + 2.63; R2 = 0.58; P < .001). In the female healthy control subgroup, they were 30.54 ± 1.70 and 21.47 ± 1.49 mm, respectively (formula: W = 0.61H + 2.90; R2 = 0.69; P < .001). The actual glenoid defect in the entire patient cohort averaged 12.3% ± 5.9%. The simple linear formula method demonstrated an ICC of 0.82, with a glenoid defect ratio averaging 15.7% ± 6.9%. The Griffith method had an ICC of 0.85, yielding a glenoid defect ratio of 16.5% ± 5.8%. The linear-based and area-based best-fit circle methods had ICCs of 0.73 and 0.77, respectively, with glenoid defect ratios of 16.9% ± 6.0% and 13.1% ± 6.2%, respectively. Glenoid morphology in patients with anterior shoulder instability, particularly among male patients, was characterized by elongation and narrowing compared with healthy participants. The simple linear formula method demonstrated excellent reliability and accuracy, comparable with traditional methods, offering an efficient approach to measuring glenoid defects. Further validation across diverse populations is warranted.

Exploratory profiling of metabolites in cerebrospinal fluid using a commercially available targeted LC-MS based metabolomics kit to discriminate leptomeningeal metastasis

BackgroundLeptomeningeal metastasis (LM) is a devastating complication of cancer that is difficult to treat. Thus, early diagnosis is essential for LM patients. However, cerebrospinal fluid (CSF) cytology has low sensitivity, and imaging approaches are ineffective. We explored targeted CSF metabolic profiling to discriminate among LM and other conditions affecting the central nervous system (CNS).MethodsWe quantitatively measured amino acids, biogenic amines, hexoses, acylcarnitines (AC), cholesteryl esters (CE), glycerides, phosphatidylcholines (PC), lysophosphatidylcholines (LPC), sphingomyelins (SM), and ceramides (Cer) in 117 CSF samples from various groups of healthy controls (HC, n = 10), patients with LM (LM, n = 47), parenchymal brain tumor (PBT, n = 45), and inflammatory disease (ID, n = 13) with internal standards using the Absolute IDQ- p400® targeted mass spectrometry kit. Metabolites detected in > 90% of samples or showing a difference in proportional level between groups ≥ 75% were used in logistic regression models when there was no single metabolite with AUC = 1 for the groups of comparison.ResultsPC and SM had higher levels in LM than in PBT or HC, whereas LPC had lower level in PBT than the other groups. Glycerides and Cer levels were higher in PBT and LM than in HC. Long-chain AC level in PBT was lower than in LM or HC. A regression model including Ala, PC (42:7), PC (30:3), PC (37:0), and Tyr achieved complete discrimination (AUC = 1.0) between LM and HC. In comparison of PBT and HC, twenty-six individual metabolites allowed complete discrimination between two groups, and between ID and HC fourty-six individual lipid metabolites allowed complete discrimination. Twenty-one individual metabolites (18 ACs and 3 PCs) allowed complete discrimination between LM and PBT.ConclusionsUsing a commercial targeted liquid chromatography-mass spectrometry (LC-MS) metabolomics kit, we were able to differentiate LM from HC and PBT. Most of the discriminative metabolites among different diseases were lipid metabolites, for which their CNS distribution and quantification in different cell types are largely unknown, whereas amino acids, biogenic amines, and hexoses failed to show significant differences. Future validation studies with larger, controlled cohorts should be performed, and hopefully, the kit may expand its metabolite coverage for unique cancer cell glucose metabolism.

Exploring predementia: Understanding the characteristics of subjective cognitive decline plus from India.

Subjective cognitive decline (SCD) is the early predementia syndrome. that occurs even before the development of objective cognitive decline. SCD plus refers to an additional set of criteria that increases the likelihood of developing mild cognitive impairment and further progressing to Alzheimer's disease (AD). Studying the progression of SCD-plus participants will help in understanding the importance of diagnosing this condition at an early stage and delaying its onset. The present tries to examine neurocognitive changes in individuals who met the criteria of SCD-plus patients. The study also investigated the imaging correlates of these individuals in both cohorts. This study included 94 participants from Srinivaspura Aging, Neuro Senescence, and COGnition (SANSCOG) and Tata Longitudinal Study of Aging (TLSA) cohorts who satisfy the criteria of SCD plus. Mann-Whitney U test was used to compare the SCD plus participants and healthy controls. Regression analysis was performed to find the association between SCD plus and cognition. The SCD-plus group performed poorer than the healthy group in episodic memory delayed recall (p = 0.049), name face recognition (p = 0.023), and letter fluency (p = 0.004) tasks. The generalized linear model revealed that the SCD-plus group had lower left cerebellar cortex (p = 0.010) and right inferior occipital cortex (p = 0.016) volumes than the healthy control group. The participants in the SCD-plus group performed poorly on memory and language-related tasks, and the volumes of the associated brain regions decreased. This study suggested that the SCD-plus group had characteristics similar to AD group and can help in identifying AD at the earliest.

Association between clinical activity score and serum sPD-1 and sPD-L1 levels during systemic glucocorticoid treatment for active moderate-to-severe thyroid eye disease.

CD4+ T lymphocytes are key immune cells involved in orbital inflammation in thyroid eye disease (TED). Inhibition of their activity is important in treatment of TED, but effective drugs targeting these cells are lacking. The programmed cell death-1/programmed cell death ligand-1 pathway has been implicated in several T-cell-mediated diseases. Manipulation of this pathway with antagonists or agonists is an attractive therapeutic option. The role of soluble programmed cell death-1 (sPD-1) and soluble programmed cell death ligand-1 (sPD-L1) in regulation of this pathway is debated. This study aimed to investigate the involvement of sPD-1 and sPD-L1 in the pathogenesis of TED, focusing on their utility as novel biomarkers to evaluate disease severity and treatment response. Thirty patients diagnosed with moderate-to-severe TED associated with Graves' disease were included. Blood samples were collected from patients before and 12weeks after initiation of intravenous glucocorticosteroid (IVGC) treatment. Disease severity was assessed using the Clinical Activity Score (CAS) before and after IVGC treatment. Thyroid-stimulating hormone, free thyroxine, free triiodothyronine, thyroid-stimulating immunoglobulin, interleukin-6, sPD-1, and sPD-L1 levels were measured. Correlations between sPD-1, sPD-L1, and CAS before and after IVGC treatment were investigated. Serum concentrations of sPD-1 and sPD-L1 before and after IVGC treatment in patients with TED were compared with those in healthy controls (HCs). The changes in the tested protein concentrations upon IVGC treatment and their associations with clinical characteristics were investigated. Enzyme-linked immunosorbent assays were used to measure sPD-1 and sPD-L1 concentrations in peripheral blood serum. There was a positive correlation of moderate Spearman's rank strength between sPD-L1 and CAS before and after treatment, and a positive correlation between sPD-1 and sPD-L1. However, no correlation was observed between sPD-1 and CAS. Baseline serum levels of sPD-1 and sPD-L1 did not significantly differ between patients with TED and HCs. There were no correlations between changes in the levels of the tested molecules upon IVGC treatment and the analyzed clinical features. The decreases of sPD-1 and sPD-L1 levels after 12weeks of IVGC treatment were not significant. The positive correlation of moderate Spearman's rank strength between sPD-L1 and CAS before and after 12weeks of treatment indicates that sPD-L1 is involved in the pathogenesis of TED. sPD-L1 may become an additional immunological biomarker to assess the disease activity and monitor the respond to treatment. Although sPD-1 is reported in the literature to have an activating effect on lymphocytes, our study shows that sPD-1 may not play a significant role in the pathogenesis of TED, as its level does not differ significantly between the TED and HC groups and does not correlate with disease activity. Understanding the clinical value of sPD-1 and sPD-L1 is of great practical importance.

TiRNA-Gln-CTG is Involved in the Regulation of Trophoblast Cell Function in Pre-eclampsia and Serves as a Potent Biomarker.

Pre-eclampsia (PE) is a gestational disorder that significantly endangers maternal and fetal health. Transfer ribonucleic acid (tRNA)-derived small RNAs (tsRNAs) are important in the progression and diagnosis of various diseases. However, their role in the development of PE is unclear. Consequently, we detected the expression profiles of tsRNAs in the plasma of patients with PE as well as those in the plasma of the healthy control group, and a multiplicity of experiments were conducted with the aim of clarifying their roles in the occurrence and development of PE and the feasibility of serving as predictive biomarkers for this disorder. High-throughput sequencing of tsRNA in plasma from PE cases was performed to evaluate its potential as a diagnostic or therapeutic biomarker. The function of tsRNA in trophoblasts was explored using the HTR-8/SVneo cell line. Plasma from pregnant women with suspected PE was analyzed to assess the potential of tsRNA to act as a predictive marker of PE. High-throughput sequencing of tsRNA was performed on plasma from pregnant women with PE and from healthy pregnant controls. Analysis revealed a significant reduction in the level of tRNA-derived stress-inducing RNA (tiRNA)-Gln-CTG in the plasma (p < 0.001) and placenta (p < 0.001) of pregnant women with PE, suggesting its potential involvement in the development of this condition. tiRNA-Gln-CTG was identified in the cytoplasm and nucleus of HTR-8/SVneo cells. In vitro experiments revealed that tiRNA-Gln-CTG influences the proliferation, cycling, migration, and invasion of HTR-8/SVneo cells, possibly by targeting the 3'UTR region of thrombospondin-2 messenger ribonucleic acid (mRNA) for degradation. Extracellular vesicle (EV) carriers may mediate the level of tiRNA-Gln-CTG in the circulation. Y-box binding protein-1 (YBX1) may be involved in loading tiRNA-Gln-CTG into EVs. The sensitivity of low tiRNA-Gln-CTG levels for predicting the onset of PE in suspected cases was 91.7% within 1 week of delivery, 85.7% within 4 weeks of delivery, and 89.3% before delivery, with corresponding specificities of 84.5%, 79.2%, and 73.4%, respectively. tiRNA-Gln-CTG significantly influences trophoblast function and is associated with the development of PE. It can serve as an effective biomarker for predicting PE progression within one week of delivery in women with suspected PE.

The role of the somatosensory cortex in self-paced movement impairment in Parkinson's disease.

The aim of this work was to study the differences at the whole-brain level between self-paced and cued movement processing in Parkinson's disease (PD). High density electroencephalogram (HD-EEG) was recorded during the performance of self-paced movements (Bereitschaftspotential - BP) and visually cued movements (VMT) in PD patients (n=38) and in a group of healthy controls (HC, n=23). Oscillatory changes in the alpha, beta, and gamma frequencies were evaluated and correlated to the clinical scales- MDS-UPDRS and Freezing of Gait Questionnaire (FOGQ). The main difference in the alpha range was an activation in the basal ganglia area during VMT performance as compared to BP performance; this activation was present only in HC. The most important finding was observed in the high beta range: a higher activation of the right postcentral area during BP performance in PD subjects as compared to HC, correlating to the severity of FOG. Moreover, PD patients had lower gamma activation of the right frontal areas. A simplification of motor circuits and a hyperactivation of the right somatosensory cortex were observed in PD subjects. Future studies should be focused on this area to confirm or disprove its role in FOG.

Evaluation of Retinal Changes in Women with Different Phenotypes of Polycystic Ovary Syndrome.

Background: The aim of our study was to evaluate the retinal nerve fiber layer (RNFL) and macular and choroidal thicknesses in women with different phenotypes of polycystic ovary syndrome (PCOS), and compare these measurements with those of healthy women of reproductive age. Materials and Methods: This prospective case-control study included 120 eyes of 120 women with PCOS, with each of the four distinct phenotypes comprising 30 eyes of 30 women. Additionally, 30 eyes from 30 healthy women were included in the control group. All participants underwent comprehensive ophthalmologic examinations, and RNFL thickness, macular thickness (MT), and choroidal thickness (CT) in each eye were measured via spectral-domain optical coherence tomography. The body mass index (BMI) of the patients was recorded and compared with the retinal changes. Results: The average mean and nasal segments of the RNFL were significantly greater in the PCOS group than in the healthy control group (p < 0.001). There was a statistically significant difference in foveal retinal thickness between the groups (p < 0.001). Our study revealed significant choroidal tissue thickening subfoveally and at locations 500 μm temporal, 500 μm nasal, 1500 μm nasal, and 1500 μm temporal to the fovea in all phenotypes of the PCOS group (p < 0.001). Additionally, there was a positive correlation between BMI and all CT changes. Conclusions: Our findings indicate that the retinal layers and choroid are affected by all phenotypes of PCOS, one of the most common reproductive abnormalities, albeit to varying degrees. Furthermore, these changes were found to be correlated with BMI.

Type 2 diabetes mellitus: A cross-sectional analysis of glycemic controls and brain health outcomes

In this cross-sectional analysis, we explored how fluctuations in glycemic levels impact executive functions and psychosocial outcomes in patients with type 2 diabetes mellitus (T2DM). The goal was to understand the relationship between glycemic control and both neuropsychological and psychosocial health. We stratified participants into well-controlled and poorly controlled groups based on glycated hemoglobin (HbA1c) levels and variability, including a healthy control group for comparison. The study consisted of neuropsychological tests and psychosocial assessments. Results indicated that the poorly controlled T2DM group experienced significant executive dysfunction and scored lower on the Tower of London, Wisconsin Card Sorting, and Digit Span Tests, reflecting a broader impact on quality of life and resilience. These findings support the importance of maintaining stable glycemic levels for better executive and psychosocial outcomes and highlight the need for regular neuropsychological and psychosocial assessments in diabetes care.

Alterations in genes associated with cytosolic RNA sensing in whole blood are associated with coronary microvascular disease in SLE

Systemic lupus erythematosus (SLE) patients are 90% women and over three times more likely to die of cardiovascular disease than women in the general population. Chest pain with no obstructive cardiac disease is associated with coronary microvascular disease (CMD), where narrowing of the small blood vessels can lead to ischemia, and frequently reported by SLE patients. Using whole blood RNA samples, we asked whether gene signatures discriminate SLE patients with coronary microvascular dysfunction (CMD) on cardiac MRI (n = 4) from those without (n = 7) and whether any signaling pathway is linked to the underlying pathobiology of SLE CMD. RNA-seq analysis revealed 143 differentially expressed (DE) genes between the SLE and healthy control (HC) groups, with virus defense and interferon (IFN) signaling being the key pathways identified as enriched in SLE as expected. We next conducted a comparative analysis of genes differentially expressed in SLE–CMD and SLE–non-CMD relative to HC samples. Our analysis highlighted differences in IFN signaling, RNA sensing and ADP-ribosylation pathways between SLE–CMD and SLE–non-CMD. This is the first study to investigate possible gene signatures associating with CMD in SLE, and our data strongly suggests that distinct molecular mechanisms underly vascular changes in CMD and non-CMD involvement in SLE.

Evaluation of Accommodation Amplitude and Convergence Insufficiency in Patients with Multiple Sclerosis

ABSTRACT Purpose To evaluate the near reflex components, including accommodation, convergence, and binocular fusional vergences in patients with multiple sclerosis (MS). Material-Method MS patients under 35 years of age without visual evoked potential (VEP) abnormalities (MS Group) and age-matched healthy individuals of (Control Group) were included in the study. Fusional vergence amplitudes, the amplitude of accommodation (AA), stereopsis measurements, near-object fixation and near point of convergence (NPC) measurements, Convergence Insufficiency Symptoms Survey (CISS) results, and the presence of nystagmus were recorded retrospectively from the files of the cases. Statistical comparison was made between the groups. Results The mean age was 28.04 ± 3.7 years in the MS group (20 females, 4 males) and 27.16 ± 3.1 years in the control group (20 females, 5 males) (p = .763). There was no statistically significant difference between groups in stereopsis (p = .395), mean convergence (p = .666), and divergence amplitudes (p = .773) at a distance, and mean convergence and (p = .836) divergence amplitudes (p = .877) at near, and NPC measurements (p = .908). The mean AA was 5.31 ± 0.7 D in the MS group and 6.1 ± 0.8 D in the control group (p < .001). CISS results were lower in the control group (p < .001). In addition, gaze-evoked nystagmus was statistically significantly higher in the MS group (p < .001). Conclusion Compared to the healthy control group, MS patients under 35 who did not have optic neuritis had lower accommodation amplitude and more signs in favor of convergence insufficiency symptoms. In addition, gaze evoked nystagmus was observed at a higher rate in the MS group. These findings may guide us in understanding the asthenopia findings of MS patients without optic neuritis.

Potential associations between altered brain function, cognitive deficits and gene expressing profiles in bipolar disorder across three clinical stages.

We aimed to determine the relationship between altered brain imaging characteristics, cognitive function and profiles of gene expression of bipolar disorder (BD). Functional magnetic resonance imaging (fMRI) was presented in three groups of BD participants (depressed, manic and euthymic) and healthy controls. Regional Homogeneity (ReHo) and region of interest based functional analysis combining with neuroimaging-transcription association analysis were utilized to investigate abnormalities and their correlation with clinical symptoms. Our data showed that all three groups of BD patients exhibited significantly altered ReHo values whilst the bilateral precuneus/posterior cingulate cortex (PCC) and lateral occipital cortex exhibited significant increase in BD. Functional connectivity (FC) revealed distinct characteristics of the precuneus/PCC-based default mode network. ReHo values in the Precuneus/middle cingulate cortex displayed significantly negative correlations with cognition and YMRS scores. Gene enrichment analysis also revealed that ReHo values were spatially correlated with pathways including chromatin organization and innate immune response. Altered ReHo values in specific brain regions may be associated with different clinical stages and increased FC in brain may potentially function as BD imaging biomarkers. The heterogeneity of gene expression was associated with altered brain imaging properties in BD, contributing to distinguishing different stages of BD from healthy individuals.

Static Posture Instability as a Sensitive Biomarker for Motor Abnormalities in Pre-ataxic Spinocerebellar Ataxia Type 3 Patients.

Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder, with balance instability as a feature of the disease. Balance instability often manifests before the onset of obvious ataxic symptoms in patients. However, current clinical scales exhibit limited sensitivity in characterizing changes in pre-ataxic patients. Our research aims to identify appropriate postural characteristics for tracking motor changes in pre-ataxic patients with SCA3 over time. The posturographic platform assessed 102 participants (34 pre-ataxic SCA3 patients, 34 ataxic patients with SCA3, and 34 healthy controls) to measure their postural balance. Multivariate comparative analyses assessed the differential postural characteristics across the three groups. The Taiwanese formula was employed to estimate the age of onset for pre-ataxic patients. A Spearman's rho test was employed to assess correlations between postural characteristics and the time manifestation for pre-ataxic patients. Compared to the healthy control group, we observed significant abnormalities in the static posture of pre-ataxic patients (P < 0.01). Compared to the pre-ataxic group, ataxic patients have significant abnormalities in all variables (P < 0.05). The sway range standard deviation (SD), total sway area, and limits of stability were positively correlated with the estimated time to onset. The total sway area is more closely associated with time to manifestation, whereas the sway range SD in the medial-lateral direction of the center of foot pressure is the most sensitive indicator of postural instability in pre-ataxic patients. Static posture instability is a sensitive diagnostic parameter that may assist in capturing disease progression in the pre-ataxic stage of SCA3. © 2025 International Parkinson and Movement Disorder Society.

Circulating chemokine levels and receptor polymorphisms have potential as biomarkers for fibrosis stages in patients with chronic hepatitis C infection.

Chemokines and their receptors, which regulate lymphoid organ development and immune cell trafficking, are integral to the mechanisms underlying viral control, hepatic inflammation, and liver damage in chronic hepatitis C (CHC) infection. This study explores the potential relationship between serum chemokine levels/polymorphisms and hepatitis C infection in affected individuals, with a particular focus on their utility as biomarkers across different stages of fibrosis. Serum levels of the chemokines CXCL11, CXCL12, and CXCL16 were measured in patients with mild/moderate and advanced fibrosis due to CHC, as well as in healthy controls, using the ELISA method. The CXCL12 rs1801157 and CXCL16 rs2277680 polymorphisms were analyzed in blood samples from patients and healthy controls through RT-qPCR. Serum levels of CXCL11, CXCL12, and CXCL16 were significantly elevated in patients with advanced fibrosis compared to healthy controls. Furthermore, CXCL11 levels were markedly higher in patients with advanced fibrosis than in those with mild/moderate fibrosis. The frequency of the CXCL12 rs1801157 AA genotype was significantly higher in the advanced fibrosis group compared to the healthy control group. Similarly, the CXCL16 rs2277680 GA genotype was significantly more prevalent in the advanced fibrosis group than in the mild/moderate fibrosis group. The current study highlights that, in addition to the potential association between chemokine levels/polymorphisms and an increased risk of disease complications and pathological progression in CHC infection, serum CXCL11 levels and the CXCL16 rs2277680 allel polymorphism may be important factors in determining the fibrosis stage of hepatitis C infection.

Differentiation of Early Sacroiliitis Using Machine-Learning- Supported Texture Analysis.

Objectives: We wished to compare the diagnostic performance of texture analysis (TA) against that of a visual qualitative assessment in identifying early sacroiliitis (nr-axSpA). Methods: A total of 92 participants were retrospectively included at our university hospital institution, comprising 30 controls and 62 patients with axSpA, including 32 with nr-axSpA and 30 with r-axSpA, who underwent MR examination of the sacroiliac joints. MRI at 3T of the lumbar spine and the sacroiliac joint was performed using oblique T1-weighted (W), fluid-sensitive, fat-saturated (Fs) T2WI images. The modified New York criteria for AS were used. Patients were classified into the nr-axSpA group if their digital radiography (DR) and/or CT results within 7 days from the MR examination showed a DR and/or CT grade < 2 for the bilateral sacroiliac joints or a DR and/or CT grade < 3 for the unilateral sacroiliac joint. Patients were classified into the r-axSpA group if their DR and/or CT grade was 2 to 3 for the bilateral sacroiliac joints or their DR and/or CT grade was 3 for the unilateral sacroiliac joint. Patients were considered to have a confirmed diagnosis if their DR or CT grade was 4 for the sacroiliac joints and were thereby excluded. A control group of healthy individuals matched in terms of age and sex to the patients was included in this study. First, two readers independently qualitatively scored the oblique coronal T1WI and FsT2WI non-enhanced sacroiliac joint images. The diagnostic efficacies of the two readers were judged and compared using an assigned Likert score, conducting a Kappa consistency test of the diagnostic results between two readers. Texture analysis models (the T1WI-TA model and the FsT2WI-TA model) were constructed through feature extraction and feature screening. The qualitative and quantitative results were evaluated for their diagnostic performance and compared against a clinical reference standard. Results: The qualitative scores of the two readers could significantly distinguish between the healthy controls and the nr-axSpA group and the nr-axSpA and r-axSpA groups (both p < 0.05). Both TA models could significantly distinguish between the healthy controls and the nr-axSpA group and the nr-axSpA group and the r-axSpA group (both p < 0.05). There was no significant difference in the differential diagnoses of the two TA models between the healthy controls and the nr-axSpA group (AUC: 0.934 vs. 0.976; p = 0.1838) and between the nr-axSpA and r-axSpA groups (AUC: 0.917 vs. 0.848; p = 0.2592). In terms of distinguishing between the healthy control and nr-axSpA groups, both the TA models were superior to the qualitative scores of the two readers (all p < 0.05). In terms of distinguishing between the nr-axSpA and r-axSpA groups, the T1WI-TA model was superior to the qualitative scores of the two readers (p = 0.023 and p = 0.007), whereas there was no significant difference between the fsT2WI-TA model and the qualitative scores of the two readers (p = 0.134 and p = 0.065). Conclusions: Based on MR imaging, the T1WI-TA and fsT2WI-TA models were highly effective for the early diagnosis of sacroiliac joint arthritis. The T1WI-TA model significantly improved the early diagnostic efficacy for sacroiliac arthritis compared to that of the qualitative scores of the readers, while the efficacy of the fsT2WI-TA model was comparable to that of the readers.