Search Results (64)

Brain morphological abnormalities are common in patients with neurodevelopmental disorders (NDDs) and other neuropsychiatric disorders, often reflecting abnormal brain development and function. Genetic studies have found common genetic factors in NDDs and other neuropsychiatric disorders, although the etiology of brain structural changes in these disorders remains poorly understood. In this study, we analyzed magnetic resonance imaging (MRI) and genetic data from more than 30K individuals from the UK Biobank to evaluate whether NDD-risk copy number variants (CNVs) are also associated with neuroanatomical changes in both patients and neurotypical individuals. We found that the size differences in brain regions such as corpus callosum and cerebellum were associated with the deletions of specific areas of the human genome, and that specific neuroanatomical changes confer a risk of neuropsychiatric disorders. Furthermore, we observed that gene sets located in these genomic regions were enriched for pathways crucial for brain development and for phenotypes commonly observed in patients with NDDs. These findings highlight the link between CNVs, brain structure abnormalities, and the shared pathophysiology of NDDs and other neuropsychiatric disorders, providing new insights into the underlying mechanisms of these disorders and the identification of potential biomarkers for better diagnosis. Full article

Background/Objectives: In the context of accelerating climate change and growing food insecurity, improving crop resilience to abiotic stresses such as drought, salinity, heat, and cold is a critical agricultural and scientific challenge. Understanding the biochemical mechanisms that underlie plant stress responses is essential for developing resilient crop varieties This review aims to provide an integrative overview of how metabolomics can elucidate biochemical mechanisms underlying stress tolerance and guide the development of stress-resilient crops. Methods: We reviewed the recent literature on metabolomic studies addressing abiotic stress responses in various crop species, focusing on both targeted and untargeted approaches using platforms such as nuclear magnetic resonance (NMR), liquid chromatography–mass spectrometry (LC-MS), and gas chromatography–mass spectrometry (GC-MS). We also included emerging techniques such as capillary electrophoresis–mass spectrometry (CE-MS), ion mobility spectrometry (IMS-MS), Fourier transform infrared spectroscopy (FT-IR), and data-independent acquisition (DIA). Additionally, we discuss the integration of metabolomics with transcriptomics and physiological data to support system-level insights. Results: The reviewed studies identify common stress-responsive metabolites, including osmoprotectants, antioxidants, and signaling compounds, which are consistently linked to enhanced tolerance. Novel metabolic biomarkers and putative regulatory hubs are highlighted as potential targets for molecular breeding and bioengineering. We also address ongoing challenges related to data standardization and reproducibility across analytical platforms. Conclusions: Metabolomics is a valuable tool for advancing our understanding of plant abiotic stress responses. Its integration with other omics approaches and phenotypic analyses offers promising avenues for improving crop resilience and developing climate-adaptive agricultural strategies. Full article

Background: Endometriosis is a common gynecological disease linked to significant diagnostic challenges. Cadherin 12 (CDH12), as a member of adhesion molecules, is supposed to be involved in the pathogenesis of this disease and therefore can be a potential biomarker candidate. Methods: In this study, we analyzed the concentration of CDH12 in plasma and peritoneal fluid samples collected from women with endometriosis and controls, using surface plasmon resonance imaging (SPRi). We collected plasma samples from 96 women and peritoneal fluid from 73 women after laparoscopy due to symptoms/ultrasound findings suggestive of endometriosis. The diagnosis was confirmed histologically. In the collected samples, we measured the concentrations of CDH12 using a novel technique utilizing an SPRi biosensor. Results: We found that peritoneal fluid CDH12 concentrations were lower in women with infertility compared to fertile women. However, we observed no differences in concentration of CDH12 between endometriosis and control groups in both plasma and peritoneal fluid. Additionally, in a study group of patients with confirmed endometriosis, we observed a significant positive correlation of CDH12 concentrations with patients’ age. Overall, plasma concentrations of CDH12 were significantly greater as compared to levels found in peritoneal fluid. Conclusion: Cadherin 12 has not been confirmed to show direct diagnostic potential for endometriosis using the SPRi method, at least in our cohort of patients. Full article

With the increasing use of imaging modalities such as ultrasonography, computed tomography, and magnetic resonance imaging, incidental findings of pancreatic abnormalities, including pancreatic cysts and fatty pancreas (FP), have become more common. FP, also referred to as pancreatic steatosis, intra-pancreatic fat deposition, or fatty pancreas disease, is characterized by the accumulation of fat in the pancreas. Although FP has been associated with metabolic syndromes such as obesity and diabetes, its clinical significance remains unclear. Recent evidence suggests that FP may play a role in pancreatic carcinogenesis. Metabolic disorders, including obesity, insulin resistance, and diabetes, have been implicated in the development of FP. Additionally, FP has been linked to an increased risk of pancreatic ductal adenocarcinoma (PDAC), possibly due to chronic inflammation, lipotoxicity, and an altered pancreatic microenvironment. While early detection of PDAC remains challenging, surveillance strategies for high-risk individuals, such as those with pancreatic cysts, new-onset diabetes, or a genetic predisposition, may be crucial. In this context, FP may be incorporated into this surveillance of high-risk individuals. Some pharmacological interventions, including glucagon-like peptide-1 (GLP-1) receptor agonists and sodium-glucose cotransporter-2 (SGLT2) inhibitors, have shown potential in reducing pancreatic fat accumulation, although further studies are needed to confirm their efficacy. Full article

Progressive Supranuclear Palsy (PSP) is an atypical Parkinsonism, pathologically described as a four-repeat tauopathy. The contemporary criteria for diagnosis of PSP indicate akinesia, oculomotor dysfunction, postural instability, and language/cognitive impairment as core symptoms. Among these features, the first two are linked to PSP—Parkinsonism predominant (PSP-P). PSP-P is the second most common subtype of PSP, following PSP—Richardson’s syndrome (PSP-RS), and is associated with a more gradual deterioration, beneficial course, and longer life expectancy after diagnosis. It is also problematic in terms of clinical evaluation, as this entity may overlap with Parkinson’s disease (PD) in early stages and with other atypical Parkinsonisms in more advanced stages. The evolution in understanding PSP and the possible progress in care and therapy of the disease leads to the necessity of finding optimal examination methods with sufficient sensitivity and specificity. In this context, PSP-P seems a crucial point. The goal of this narrative review is to provide an overview of the possibilities provided by Magnetic Resonance Imaging (MRI) assessments in terms of PSP-P and analyze their strengths and weaknesses. Full article

Congenital cytomegalovirus infection is the most common congenital infection worldwide and an important cause of neurodevelopmental delay and sensorineural hearing loss. Neuroimaging represents the best prognostic marker in cCMV infection. The aim of this study was to establish the role of cranial ultrasound and brain magnetic resonance imaging in the development of long-term sequelae in symptomatic and asymptomatic children with cCMV infection. Of the 47 children enrolled in the study, 25 (53.1%) were classified as symptomatic at birth. In 27/47 patients, SNHL was diagnosed with a similar proportion among the symptomatic and asymptomatic at birth (51.8% and 48.1%, respectively; p = 1.0). Thirty case patients had available data on follow-up. Neurological sequelae were more frequently seen in patients with symptomatic cCMV, but only cerebral abnormalities seen on initial MRI results had a consequential link with the later development of motor (OR 17.5; 95% Cl: 2667, 114,846; p = 0.002) and speech disorders (OR 15; 95% Cl: 2477, 90,843; p = 0.02). Although not statistically significant, hearing deterioration was more frequent in children with abnormal MRI results (OR 5; 95% Cl: 0.846, 29,567; p = 0.121). Neuroimaging abnormalities, as identified through both cranial ultrasound (CrUS) and MRI, are critical prognostic indicators for long-term sequelae, applicable to both symptomatic and asymptomatic children. Full article

Background: Apathy is a common neuropsychiatric symptom in all stages of dementia, significantly complicating patient management. This study examines the prevalence of apathy across Alzheimer’s Disease (AD), Lewy Body Dementia (LBD), Frontotemporal Dementia (FTD), and Vascular Dementia (VD) and explores its associations with cognitive functions, neuropsychiatric symptoms, and magnetic resonance imaging (MRI) findings. Methods: This retrospective, cross-sectional study included 200 patients diagnosed with AD, LBD, FTD, and VD along with 100 healthy controls (HCs). Apathy was assessed using the Apathy Evaluation Scale. Depression and anxiety in patients were evaluated using the Geriatric Depression Scale and the Geriatric Anxiety Scale, respectively. Cognitive function was measured with the Mini-Mental State Examination (MMSE) and Addenbrooke’s Cognitive Examination-Revised (ACE-R). MRI findings were evaluated using atrophy scales that are routinely utilized in dementia assessments. Results: Apathy was significantly more prevalent in dementia and MCI patients compared to HC. However, there were no significant differences in apathy prevalence among dementia subtypes. Apathy showed no significant correlation with depression, anxiety, or cognitive performance. Notably, MRI analysis revealed a strong association between apathy and orbitofrontal (OF) sulci atrophy. Conclusions: Apathy is a critical symptom in dementia, linked to OF atrophy and presenting challenges in management. These findings emphasize the importance of integrating apathy assessments in clinical practice. Larger, longitudinal studies are needed to further clarify the pathophysiology and management of apathy in dementia. Full article

Background: Schizophrenia is a complex disorder characterized by disruptions in cognition, behavior, and emotions. Extensive research has uncovered alterations in a single modality (either the brain structure or function) in schizophrenia. However, the limitation is that a single modality could not offer a synchronous result between the brain structure and function because of different samples. Here, a multiparametric approach is essential to understand the common and distinct alterations between the brain structure and function in schizophrenia. Methods: We analyzed structural and functional magnetic resonance imaging data from 146 participants (72 individuals with schizophrenia and 74 healthy controls). Individual morphological similarity and functional connectivity gradients were computed using a nonlinear dimensionality reduction technique with diffusion map embedding. Furthermore, to understand how the alterations may be related to genetic underpinnings, gene expression enrichment analyses were conducted using Allen Brain Human Atlas and GOrilla. Results: Compared with controls, patients with schizophrenia had reduced scores on the principal functional gradient of the visual network and elevated scores on the principal functional gradient of the limbic network, the frontoparietal control network, and the default mode network. Additionally, the main functional gradient in individuals with schizophrenia showed compression along the primary axis compared to the healthy control group. These changes were linked to genes involved in synaptic signaling and neuronal development. Conclusions: These results indicate connectome gradient dysfunction in schizophrenia and its linkage with gene expression profiles, supporting widespread network-level abnormalities. The integration of neuroimaging provides insight into the neurobiological underpinnings and potential biomarkers for treatment evaluation in this disorder. Full article

Background/Objectives: Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease. The most frequently mutated genes encode proteins of the thick filament of the sarcomere, while mutations in thin-filament genes are rare findings in HCM cohorts. Recent studies have revealed distinct mechanisms of disease development linked to thin-filament mutations, highlighting the need for further investigation into this rare subgroup. Methods: A total of 82 adult patients with sarcomere-positive HCM were enrolled. Baseline characteristics and nearly five years of follow-up data from 15 patients with thin-filament mutations were analyzed and compared with those from 67 patients with thick-filament mutations and findings from other studies. Results: Compared to thick-filament HCM patients, individuals with thin-filament mutations exhibited significantly lower maximum left ventricular wall thickness, as measured by both echocardiography (p = 0.024) and cardiac magnetic resonance (p = 0.006), showed more rapid progression to advanced heart failure (HR = 5.6, p = 0.018), and less often underwent septal reduction therapy (p = 0.025). None of the thin-filament HCM patients experienced malignant arrhythmic events. Conclusions: In adults, thin-filament HCM is associated with a ‘thinner’ phenotype and a more rapid progression to advanced heart failure compared to thick-filament HCM. Data on a higher risk of malignant arrhythmias in thin-filament HCM remain controversial between studies and rather depend on the age of onset and genotype in each particular family. Full article

Background and Objectives: Hemiplegic or unilateral cerebral palsy (UCP) is primarily characterized by motor impairment, mainly affecting the upper limb. Research has centered on factors influencing the varying degrees of motor deficit in UCP, using neuroscience advancements for in vivo exploration of brain structure (morphometry) and cortical reorganization (functional magnetic resonance imaging (fMRI)). This study aims to evaluate functional activation in the motor cortex in UCP and to explore how lesion characteristics and timing affect neuroplasticity and motor function. Materials and Methods: Between 2017 and 2021, structural and functional MRIs were performed on 44 UCP patients (mean age 15.5 years, 24 males, 20 females), all with Manual Ability Classification System (MACS) levels I-III and Intelligence Quotient (IQ) ≥ 50. The lesion characteristics of size, type, and time of occurrence (ante-, peri-, or early postnatal) were analyzed. An association was sought between the characteristics of the lesion and the degree of motor deficit of the upper limb, as determined by the MACS level. fMRI assessed cortical activation during a finger-tapping task for the paretic hand and compared activation patterns based on lesion characteristics. Results: Six lesion types were identified, with arterial ischemic stroke being the most common and largest in volume. Lesion size strongly correlated with patients’ MACS levels, while lesion type and timing showed no association with the severity of motor impairment classified by MACS. Motor reorganization varied, with activation occurring ipsi-, contra-, or bilaterally to the affected hand, depending on lesion size and type. Smaller, subcortical lesions primarily showed ipsilesional activation, while larger, cortical lesions did not exhibit a specific group activation, possibly due to varying individual reorganization. No association was found between the lesion timing and the reorganization model. Conclusions: Motor functional reorganization in UCP is closely linked to lesion characteristics, with smaller, subcortical lesions favoring typical organization in the contralateral motor cortex. The timing of the lesion does not significantly affect cortical reorganization. Lesion size was a key determinant of motor function, whereas lesion type (e.g., ischemic stroke) and timing (early vs. late occurrence) were less critical for predicting functional outcome. Full article

Bacteria from the genus Proteus are facultative human pathogens, primarily attacking the urinary tract and wounds. A total of 85 O serogroups have been identified so far among these bacilli. P. mirabilis Bprz 86 was isolated from the fistula of a patient in Łódź, Poland. Enzyme-Linked Immunosorbent Assay (ELISA) and Western blotting studies involving the P. mirabilis Bprz 86 lipopolysaccharide (LPS) and the strain-specific rabbit antiserum indicated that the strain, which does not belong to any of the O1–O85 serogroups, shares a common epitope with Proteus O17 antigens and is identical to another clinical P. mirabilis strain, Sm 120, isolated from the urine of a patient in the area. The O-specific polysaccharide (O antigen) was obtained from P. mirabilis Bprz 86 LPS through mild acid degradation, and the six-constituent structure of its repeating unit was determined using chemical analyses and 1D and 2D ¹H and ¹³C Nuclear Magnetic Resonance (NMR) spectroscopy. It includes (R)-3-hydroxybutanoyl, which, along with fucosamine and glucose residues, forms a fragment also present in the O17 antigens. Based on the obtained serological and chemical data, the two studied P. mirabilis isolates were proposed as candidates for a new successive O serogroup in the genus Proteus, O86. Full article

Background/Objectives: Insufficient blood supply to the brain, whether due to blocked arteries (ischemic stroke) or bleeding (hemorrhagic stroke), leads to brain cell death and cognitive impairment. Ischemic strokes, which are more common, occur when blood flow to the brain is obstructed. Magnetic resonance imaging (MRI) scans are essential for distinguishing stroke types, but precise and timely identification of ischemic strokes is crucial for effective treatment. Manual diagnosis can be difficult due to high patient volumes and time constraints in hospitals. This study aims to investigate the use of deep learning techniques for predicting ischemic strokes with high accuracy, enabling earlier diagnosis and intervention. Methods: The study utilized advanced deep learning algorithms, specifically ConvNeXt Base, to analyze large datasets of medical imaging data, focusing on MRI scans. The model was trained and validated on a labeled dataset to identify critical indicators and patterns associated with stroke risk. The performance of the model was evaluated based on accuracy metrics to determine its predictive capabilities. Results: ConvNeXt Base achieved an overall accuracy of 84% on the validation set, demonstrating its effectiveness in identifying ischemic strokes. The model was able to detect key patterns linked to stroke risk, highlighting its potential for use in clinical settings to aid in early diagnosis and decision-making. Conclusions: ConvNeXt Base reveals promise in improving stroke prediction accuracy, enabling earlier diagnosis and personalized treatment, which could lead to faster, more effective medical interventions. Full article

This paper presents the implementation of an improved resonance-type FCL, designed to enhance the transient stability of a photovoltaic farm. This FCL overcomes the well-known drawbacks associated with the conventional resonance-based FCLs. This FCL limits the fault during the fault period, quickly achieves stability during the recovery period, independent of the reactor’s charging state, and notably reduces DC-link voltage fluctuations during faults. A power system simulation setup comprising a PV farm, synchronous generator, transformers, circuit breakers, transmission system, and several branches of loads is used for testing the proposed FCL. The simulation results validate that the proposed FCL better improves the system’s stability and leads to improved fault current, PCC voltage, active power, reactive power, and DC-link voltage compared to other common types of resonant FCLs. Full article

Tetracycline (TC) is a common antibiotic; when untreated TC enters the environment, it will cause a negative impact on the human body through the food chain. In the present study, MnO₂/MCM-41@Fe₃O₄ (FeMnMCM) prepared using a hydrothermal and redox method and Camellia oleifera shell-activated carbon (COFAC) prepared through alkali activation were encapsulated using alginate (ALG) and calcium chloride as a cross-linking matrix to give the composite beads COFAC–FeMnMCM–ALG. The resultant COFAC–FeMnMCM–ALG composite beads were then carefully characterized, showing a high immobilization of MnO₂/MCM-41@Fe₃O₄, with porous COFAC as an effective bioadsorbent for enriching the pollutants in the treated samples. These bead catalysts were subsequently applied to the oxidative degradation of TC in a Fenton oxidation system. Several parameters affecting the degradation were investigated, including the H₂O₂ concentration, catalyst dosage, initial TC concentration, and temperature. A very high catalytic activity towards the degradation of TC was demonstrated. The electron paramagnetic resonance (EPR) and quenching results showed that ·OH and ·O₂⁻ were generated in the system, with ·OH as the main radical species. In addition, the COFAC–FeMnMCM–ALG catalyst exhibited excellent recyclability/reusability. We conclude that the as-prepared COFAC–FeMnMCM–ALG composite beads, which integrate MnO₂ and Fe₃O₄ with bioadsorbents, provide a new idea for the design of catalysts for advanced oxidation processes (AOPs) and have great potential in the Fenton oxidation system to degrade toxic pollutants. Full article

Cytotoxic T-lymphocyte antigen 4 (CTLA-4) is a pivotal immune checkpoint receptor, playing a crucial role in modulating T-cell activation. In this study, we delved into the underlying mechanism by which a common mutation, G199R, in the cytoplasmic domain of CTLA-4 impacts its inhibitory function. Utilizing nuclear magnetic resonance (NMR) spectroscopy and biochemical techniques, we mapped the conformational changes induced by this mutation and investigated its role in CTLA-4 activity. Our findings reveal that this mutation leads to a distinct conformational alteration, enhancing protein–membrane interactions. Moreover, functional assays demonstrated an improved capacity of the G199R mutant to downregulate T-cell activation, underscoring its potential role in immune-related disorders. These results not only enhance our understanding of CTLA-4 regulatory mechanisms but also provide insights for targeted therapeutic strategies addressing immune dysregulation linked to CTLA-4 mutations. Full article