GENETICS 10.21926/obm.genet.2603356
Authors: Md Arif Sakil Shagata Islam Shorna Maisha Rahman Tahmina Akter Prodipto Bishnu Angon Arpita Rani Roy Mohammed Arif Sadik Polash
Salinity and drought stresses induced by climate change pose critical threats to global food security, necessitating a comprehensive insight of plant adaptive mechanisms at the genomic level. This review brings together recent advances in identifying genes, regulatory networks, and evolutionary strategies underlying plant responses to osmotic stress. We discuss key transcription factor families (DREB, NAC, MYB, and WRKY), ion transporters (SOS pathway, NHX, and HKT), genes involved in osmolyte biosynthesis, and reactive oxygen species (ROS) scavenging systems. Recent genomic studies have revealed extensive expansions of gene families, neofunctionalization events, and convergent evolution across plant lineages. Multiomics integration has illuminated complex regulatory networks involving microRNAs, long noncoding RNAs (lncRNAs), and epigenetic modifications that fine-tune stress responses. We examine natural variation in stress tolerance, highlighting genomic signatures of selection in halophytes and xerophytes that provide insights for crop improvement. Pangenomic analyses revealed that significant structural variations and presence-absence variations contributed to stress adaptation. Finally, we discuss evolutionary trade-offs, the impact of domestication on stress resistance, and future directions for leveraging genomic knowledge through precision breeding, gene editing, and systems biology approaches to develop climate-resilient crops. ]]>Authors: Alejandro Valencia-Arias Jorge Eugenio Cabrejos Barriga Cesar Alberto García Espinoza
The presence of arsenic in groundwater poses a significant threat to public health, particularly in rural areas lacking access to treatment technologies. In Mórrope, concentrations exceeding regulatory limits have been detected, necessitating sustainable solutions. The objective of this study was to evaluate the efficiency of sugarcane bagasse as a biosorbent material for removing arsenic from contaminated waters in the Mórrope-Lambayeque district. The experimental design employed a 2 × 3 × 3 factorial design, encompassing three variables: adsorbent dosage (1 and 2 g/L), pH (5, 7, and 9), and initial arsenic concentration (2.5, 4.5, and 6.5 mg/L). The bagasse underwent a series of processing steps, including acid washing, drying, and sieving, and was applied in batch tests. The analysis encompassed removal efficiency, adsorption capacity, isotherm adjustment, and kinetics. The system attained a maximum removal rate of 27.43% with a biosorbent dosage of 2 g/L, pH 9, and an initial arsenic concentration of 2.5 mg/L. The Langmuir model (R2 = 0.9926) provided the most suitable description of the adsorption process, indicating the presence of a monolayer. The adsorption kinetics were best described by the pseudo-second-order model (R2 = 0.9727). However, this statistical fit was not interpreted as definitive evidence of an exclusively chemisorption-controlled mechanism, since surface interactions, external mass transfer, and intraparticle diffusion may contribute simultaneously to arsenic uptake. The results indicate that chemically modified sugarcane bagasse exhibits a measurable but limited capacity for arsenic adsorption. However, the maximum removal efficiency of 27.43% is insufficient for direct drinking-water treatment, and the material should not be considered a stand-alone remediation technology under the evaluated conditions. Further surface modification, process optimization, and integration with complementary treatment stages are required before practical implementation can be considered. Beyond its technical feasibility, this approach holds strong social relevance, as it promotes the use of locally available agricultural residues to improve water quality in vulnerable communities, fostering low-cost, community-managed, and environmentally sustainable solutions for safe water access. Although the removal efficiency remains moderate, future research should aim to enhance adsorption performance and evaluate the potential for large-scale implementation in rural water treatment systems. ]]>NEUROBIOLOGY 10.21926/obm.neurobiol.2603351
Authors: S.L. Jany Shabu L. Lakshmanan J. Refonaa S. Dhamodaran Aimin Li Saurav Mallik
Histological heterogeneity and complex imaging patterns make brain tumour diagnosis difficult. In order to make timely clinical decisions and plan personalised treatment, MRI multi-class brain tumour classification must be accurate. Expert evaluation in conventional image interpretation increases diagnostic burden and inter-observer variability. While current AI-based tumour classification methods have improved, learning discriminative spatial-contextual representations and giving clinically relevant model interpretability remain challenges. This article offers Convolutional Recurrent Attention Network (CRANet) for multi-class brain tumour classification using T1-weighted MRI data to overcome these issues. Convolutional Neural Networks (CNNs) extract hierarchical spatial features, Recurrent Neural Networks (RNNs) model contextual dependencies among deep feature representations, and a Channel-Spatial Attention Module emphasises diagnostically informative features during classification in the proposed architecture. Cross-validation evaluates generalisation performance, whereas noise reduction, intensity normalisation, and data augmentation improve data quality and model resilience. Experiments show that CRANet outperforms state-of-the-art deep learning methods in conventional diagnostic measures. Attention activation maps improve model transparency and clinician interpretation by visualising picture areas contributing to classification decisions, without localising tumours. ]]>GENETICS 10.21926/obm.genet.2603355
Authors: Alfonso Pellegrino Alessandro Stasi
This bibliometric review analyzes 387 Scopus-indexed publications (1970-2025) on the relationship between genetics and education, retrieved with the query (“Genetics” AND “Academic Performance”) OR (“Heritability” AND “Education”). Research output was minimal until the 2000s, then expanded rapidly with the rise of twin cohorts and, after 2010, large genome-wide association studies (GWAS) and polygenic prediction. Science mapping reveals three thematic clusters: classical heritability studies of cognitive and academic traits; cohort-based developmental work linking cognition and schooling; and sociogenomic research on GWAS, polygenic scores, and gene-environment interplay. Within this query-defined corpus, publication activity is concentrated in genetics, psychology, and related fields, while education-focused journals and policy-oriented terms are less prominent. Key gaps include the lack of diverse samples, limited applied intervention research, and the absence of clear ethical and governance frameworks for potential educational uses of genetic information. ]]>Authors: Vinayak Kaushal Dipro Biswas Amey Kashyap
Amid accelerating Arctic warming-occurring at nearly four times the global rate-cold-region infrastructure faces escalating risks from permafrost thaw, sea-level rise, and compound climate stressors. This study presents a 25-year (2001-2026) review combining bibliometric analysis with a six-nation comparative synthesis to evaluate infrastructure vulnerability, engineering adaptation strategies, and policy implementation gaps. A dataset of 1,077 Web of Science records is analyzed using VOSviewer to map thematic evolution, while detailed case comparisons across the United States, Canada, Russia, Norway, Greenland (Denmark), and China identify tested engineering practices. The findings reveal a rapidly expanding but unevenly applied knowledge base, with research concentrated on high-elevation permafrost and largely disconnected from Arctic policy and military infrastructure contexts. While multiple nations have developed coherent design philosophies-emphasizing passive cooling, ventilated foundations, geohazard-informed siting, and climate-scenario-based design-the United States remains comparatively reactive, lacking systematic adoption of these approaches. The study concludes that the primary barrier to resilience is not the absence of technical solutions but the gap between knowledge and implementation. These insights underscore the need for integrated, forward-looking design frameworks applicable not only to Arctic infrastructure but also to climate-vulnerable built environments more broadly. ]]>NEUROBIOLOGY 10.21926/obm.neurobiol.2603350
Authors: Ioannis Syros Anna Tsourdini Blossom Fernandes Xenia Anastassiou-Hadjicharalambous
The present study examined the effectiveness of a transdiagnostic intervention programme, Super Skills for Life (SSL), in children with clinical anxiety. SSL, in addition to the principles of cognitive and behavioral therapy, also incorporates video feedback and cognitive preparation as essential components of the treatment. The program was implemented in a clinical population in an NHS community child mental health unit. The sample consisted of 23 Greek-speaking elementary school children diagnosed with at least one Anxiety Disorder (AD). Each session was held once a week for 1 hour. The program consisted of 8 sessions. Children were video-recorded during a 2-min speech task in sessions 1 and 8. All the children completed a large battery of self-reported questionnaires targeting emotional and behavioral difficulties before and after participating in the intervention. There was an immediate improvement in participants after the completion of the intervention. Regarding the behavioral indicators of anxiety during the 2-minute speech task, improvements were observed and recorded by both the children themselves and external observer assessments. Thus, behavioral improvement was detected regarding children’s social competence and self-concept from pre-treatment to post-treatment. The present study used an open clinical trial design, had a small sample size, and did not provide evidence regarding the long-term sustainability of the program’s beneficial effects after the intervention’s completion. This study provides preliminary exploratory results regarding the effect of video feedback on the improvement of social anxiety and self-perception of children with pathological anxiety. Additionally, it constitutes a useful therapeutic tool within the framework of applying SSL to this population. ]]>Authors: Ovis D. Irefu Godslove I. Ebiega Terdoo M. Dugeri Seyi J. Fanifosi
Renewable energy systems play a critical role in reducing carbon emissions and promoting energy sustainability. Conventional battery storage remains the dominant but problematic solution for intermittency management in off-grid renewable energy systems (RES), imposing high capital costs ($150-400/kWh for lithium-ion), short replacement cycles of 3-15 years, and significant environmental burdens from toxic material disposal barriers that are particularly acute in the remote and resource-limited communities that most need reliable clean energy. This paper presents a systematic review of battery-less off-grid RES, synthesizing evidence across six alternative energy storage and dispatch technologies: supercapacitors, mechanical flywheels, compressed air energy storage (CAES), pumped hydroelectric storage (PHS), hydrogen storage via PEM electrolysis, and molten salt thermal energy storage (TES). The review spans single-source, dual-source, and multi-source configurations, with documented applications in seawater reverse osmosis desalination, agricultural water pumping, rural electrification, and small-scale industrial processes. A comparative performance analysis reveals that no single battery-less technology is universally optimal; rather, hybrid approaches particularly molten salt TES paired with hydrogen storage offer the most robust solution for continuous, dispatchable off-grid power. Building on this synthesis, the paper proposes and characterizes a novel integrated battery-less microgrid combining solar photovoltaic (PV), wind turbine (WT), and concentrated solar power (CSP) with molten salt thermal storage and PEM-based green hydrogen production. The system’s defining innovation is the dual-pathway utilization of stored hydrogen: as a long-duration electricity backup via fuel cells and as a direct fuel for agricultural vehicles and equipment, eliminating diesel dependence in off-grid farming contexts. Key findings indicate that such integrated systems can reduce curtailed renewable energy by up to 79%, eliminate battery replacement costs over a 20-year operational lifespan, and provide multi-day energy autonomy without chemical battery storage. Critical challenges including electrolyzer cost reduction, small-scale CSP adaptation, and energy management system design are identified as priority directions for future research to enable widespread deployment. HOMER Pro-based techno-economic validation is identified as the immediate next step in this research work. ]]>TRANSPLANTATION 10.21926/obm.transplant.2603274
Authors: Aqshal Radiva Eryadana Eriawan Agung Nugroho Muhammad Kemal Thariq Ibrahim Pande Made Wisnu Tirtayasa Ardy Santosa Mohamad Adi Soedarso Nanda Daniswara Sofyan Rais Addin Dimas Sindhu Wibisono Fandy Wicaksono Donny Austine Wibisisono
Multiple renal arteries in living-donor kidney transplantation create technical challenges, but their effect on clinical outcomes is unclear. This review assessed whether grafts with multiple renal arteries differ in short-term outcomes compared with single renal artery grafts. Following PRISMA 2020 guidelines and PROSPERO registration, a systematic search of PubMed, Embase, Scopus, Web of Science, and Cochrane CENTRAL was conducted from database inception until 31 October 2025. Studies published from January 2020 to 31 October 2025 that met the eligibility criteria were included to capture contemporary living-donor kidney transplantation practice. Comparative studies of adult living-donor kidney transplant recipients receiving multiple renal arteries versus single renal artery grafts were included. Primary outcomes were delayed graft function, 1-year graft and patient survival, and 12-month estimated glomerular filtration rate. Secondary outcomes included vascular and urological complications. Random-effects meta-analyses were performed, and certainty of evidence was assessed using GRADE. Ten studies (≈2,105 recipients; ≈600 MRA, ≈1,500 SRA) met inclusion criteria. However, only a limited subset of studies contributed to individual quantitative analyses, with three studies available for delayed graft function analysis and four studies for graft survival and estimated glomerular filtration rate outcomes. Multiple renal arteries were not associated with increased delayed graft function (RR 1.23; 95% CI 0.24-6.22) or inferior 1-year graft survival (RR 1.03; 95% CI 0.51-2.07). The interpretation of pooled estimates is limited by the small number of contributing studies, low event rates, and imprecision of confidence intervals. Living-donor kidney transplantation using grafts with multiple renal arteries appears to have comparable short-term outcomes to single-renal-artery grafts; however, the available evidence remains limited by the small number of comparative studies, retrospective designs, and imprecision of pooled estimates. Further large-scale prospective studies are required to confirm these findings. ]]>Authors: Máximo Augusto Poggio Sendra A. Guillermo Bracamonte
In this commentary article, the discussion is about how optics from tiny-sized structures formed by a few atoms and molecules was the beginning of higher-sized effects and phenomena forming part of micro- and macro-sized materials with targeted functions, smart responses, and instrumentation of varied dimensions used daily for well-being. In this manner, the optical properties developed by varied molecules with particular capabilities to absorb and filter intervals of wavelengths and related colours could participate in the development of colored lens and crystals. In this context, the importance of spectroscopic techniques and methods in the characterization of new synthetic molecules as well as from natural sources in many Green chemistry approaches, and related soft materials is noted. Moreover, the control of quantum and nanoscale phenomena provides new types of high-brightness emitters that could tune optoelectronics and light emissions incorporated in many optical setups, instrumentation, and tools. This is the case of LEDs (Light-Emitting Diodes), lamps, Lasers, and more innovative sources of light. In this context, it should be noted that the performance of these new materials available on the market and the low cost related to high-impact research are still under focus. The generation of non-classical light and applications by tuning highly intense electromagnetic fields are of current interest in multidisciplinary developments. In addition, energy generation, conduction, and quantum and optical computing signaling are currently the highest-ranked industries advancing new instrumentation, devices, and the next generation of technology. In this regard, chips, telephones, solar cells, semiconductors, and computers are involved in our daily tasks and routines. So, by tuning optics and photonics at different levels, it can foster well-being, peace, and security in current times. In this way, it was possible to highlight the main recent developments associated with high-impact technology. ]]>Authors: Nilesh Sankeshware Ayesha Mulla Shrikant Hulkane Asmita Prabhune Ibrahim M. Banat Surekha K. Satpute
Since 1894, hydrogels (HGs) have advanced from simple water-swollen colloids to poly (2-hydroxyethyl methacrylate) (pHEMA)-based biomedical materials introduced in 1960. Further, the journey continued towards innovative, stimuli-responsive hybrid systems in 2025. Once limited to wound dressings and contact lenses, HGs have now formed a multi-billion-dollar market. Biohydrogels (BioHGs) are biomaterials with remarkable physicochemical properties, enabling their widespread applications. However, several challenges also restrict their translational potential, including poor mechanical robustness, limited long-term stability, variability in natural polymer sources, and difficulties in large-scale production. Although numerous reviews have summarized BioHGs and their applications, a clear understanding of how biomaterial properties relate to HG functionality and performance remains underexplored. This review article collates esteemed, interesting, and up-to-date information on sources, properties, applications, and challenges of BioHGs. Superlative BioHGs can be produced by precisely optimizing formulation and processing parameters (polymer concentration, pH, temperature, and mechanical strength) to ensure desirable features. It was found that biomaterials spanning an extensive molecular-weight range have been utilized for HGs fabrication, enabling the tailoring of physicochemical and biological properties for specific applications. It is pertinent to note that synthetic HGs demonstrate the highest mechanical strength, natural HGs excel in swelling behaviour and porosity. In contrast, hybrid HGs achieve the most favourable overall performance by effectively balancing all anticipated properties. Briefly, further information on future research directions toward sustainable, high-performance biomaterials has been provided. We highlight recent advances focused on the development of hybrid and composite BioHGs, the incorporation of bioactive agents, and the engineering of multifunctional systems to address these limitations. The integration of novel components, such as biosurfactants (BSs), chitosan, protein-based polymers, and nanoparticles, into nanocomposites offers new opportunities for designing advanced HGs with enhanced performance. ]]>NEUROBIOLOGY 10.21926/obm.neurobiol.2603349
Authors: Elham Amjad Babak Sokouti
Major depressive disorder (MDD) has a widespread heterogeneity as per the psychiatric nosology, and traditional symptom-based diagnosis frameworks do not offer many clues regarding tailored therapy techniques. The recent development of multi-omics and data-driven solutions has now provided evidence for pathophysiologically different subtypes of MDD, moving the field toward precision psychiatry. The systematic review aggregates multimodal studies that combing neuroimaging, genomics, transcriptomics, epigenomics, metabolomics, and proteomics to define MDD subtypes. There are two to four candidate clusters that have been formed across these heterogeneous modalities, and each has a neurobiological and clinical profile. Cognitive subtypes are characterized by executive failure and loss of prefrontal and temporal gray matter. Neuroimaging-derived subtypes show specific patterns of functional connectivity that may predict response to selective serotonin reuptake inhibitors (SSRIs) or repetitive transcranial magnetic stimulation (rTMS) in preliminary studies. There are immune-metabolic subtypes characterized by increased inflammatory cytokines and dysregulation of metabolic pathways. Molecular subtypes appear to be differentiated by cellular mechanisms such as mitophagy and pyroptosis. Taken together, these results indicate that multi-omics integration, in addition to explaining the molecular architecture of MDD, also characterizes patient subgroups with pathophysiological mechanisms, dimensions of symptoms, and disease treatment. The growing body of literature demonstrates that there is a shift in psychiatry toward a more mechanistic approach and that biomarker-based diagnostics and personalized treatment regimens are urgently needed to improve clinical outcomes in depressive diseases. ]]>GENETICS 10.21926/obm.genet.2603354
Authors: Elham Amjad Babak Sokouti
The pathology of PD is characterized by progressive degeneration of dopaminergic neurons, although the full regulatory network involved in this process is not yet fully established. The present research employed a multi-omic systems biology design, integrating transcriptomic, functional, epigenetic, and microRNA analyses to develop a mechanistic model of neurodegeneration in the substantia nigra. We have determined six differentially expressed genes, such as tyrosine hydroxylase (TH), solute carrier family 18 member 2 (SLC18A2/VMAT2), and engrailed 1 (EN1), that are of critical interest in the disruption of the dopaminergic synapse and the inability to load vesicular neurotransmitters (fold enrichment: 2164.22). Notably, we have identified a candidate dual regulatory axis underlying the silencing of these neuroprotective genes. In this mechanism, repressive histone marks (H3K27me3 and H3K9me3) are concurrent, and post-transcriptional repression via specific microRNAs, in particular, hsa-miR-431-3p (EN1) and mmu-miR-362-5p (SLC18A2), is involved. The combined model thus finds a mutual dysregulation of epigenetics and microRNA as the main cause of gene silencing. Besides, the Traditional Chinese Medicine (TCM) components were analyzed to identify compounds that can interact with the core targets (TH and SLC18A2), thereby providing translational potential. The results identify candidate TCM compounds predicted to interact with core targets (TH and SLC18A2), providing hypothesis-generating leads for multi-target interventions that may modulate the repressive epigenetic landscape, suppress regulatory microRNAs, and engage dopaminergic pathways. Predicted interactions require experimental validation to distinguish beneficial modulation from potential inhibition. This would seek to reverse severe neuronal activity and halt the advancement of Parkinson's disease. These findings illustrate a neuro-nutrigenomic application in which dietary-derived and herbal compounds may modulate gene expression and epigenetic marks in Parkinson’s disease. ]]>NEUROBIOLOGY 10.21926/obm.neurobiol.2603348
Authors: Tasya Fabiola Alim Valentinus Besin Mariana Wahjudi
Pituitary adenoma (PA) is a benign tumor, accounting for the majority of pituitary tumors. While extensive epidemiological data on PA exists globally, such data is limited in Indonesia. Epidemiological insights are crucial as disease patterns, including PA, can be ethnicity-dependent, and the incidence may differ across countries. This study aimed to address this gap by conducting a cross-sectional study at a primary hospital in Surabaya, Indonesia, involving PA participants diagnosed between 2016 and 2020. The collected data included factors associated with PA and its clinical characteristics. A total of 36 participants with PA were included in the study. The highest incidence of PA was observed in the 50-59 age group (30.55%), with a higher prevalence in males (52.78%). Obesity was common, affecting 69.44% of participants, and 72.22% had macroadenomas. Non-functional PAs were observed in 52.78% of participants, with visual impairment being the most common clinical symptom (61.11%). The prevalence of PA was observed among both premenopausal and postmenopausal women. Interestingly, 58.33% of participants were non-smokers. Further studies with larger sample sizes and multicentre participation are needed to understand the epidemiology of PA in Indonesia better. ]]>Authors: Nathália Dias Araújo Patrísia de Oliveira Rodrigues Mariana Fornazier Borges Anderson Gabriel Corrêa Gabriela Ciribelli Santos Pompêu Milla Alves Baffi Daniel Pasquini
Organosolv pretreatment is an attractive approach to disrupt the recalcitrant structure of lignocellulosic biomass from agroindustrial wastes, aiming to facilitate its bioconversion into valuable bioproducts. This study investigated the ability of an ethanol/water (1:1 v/v) organosolv pretreatment to improve the enzymatic digestibility of sugarcane bagasse (SB), sugarcane straw (SS), corn straw (CS), and corn cob (CC) for the production of reducing sugars and monosaccharides, aiming at future applications in bioethanol production and integrated biorefineries. After pretreatment, substantial hemicellulose and partial lignin removal were observed, with high preservation of the cellulosic fraction, mainly in SB and CC (56.11% and 55.27%, respectively). Morphological and structural alterations, such as increased porosity and crystallinity, were also detected and attributed to the removal of amorphous regions from the pretreated biomasses, with the most prominent changes observed in CC. These modifications demonstrated the key role of organosolv pretreatment in enhancing enzymatic saccharification, thereby increasing conversion yields. The maximum release of TRS and glucose was recorded in CC (44.58 and 40.14 g/L, respectively), with high bioconversion rates of cellulose to glucose (65.42%) and hemicellulose to xylose (61.86%) after 48 h of hydrolysis. These findings highlight the potential of ethanol-based organosolv pretreatment as a sustainable, environmentally friendly, and effective strategy for enhancing biomass conversion. Furthermore, the Life Cycle Assessment (LCA) of the pretreatment and enzymatic hydrolysis processes revealed relatively moderate environmental impacts, with energy consumption as the major contributor, driven by the energy source adopted in the system. ]]>Authors: Terlumun Adagba
The growing demand for sustainable, resource-efficient construction materials has heightened interest in agricultural waste-derived supplementary cementitious materials, among which cassava peel ash (CPA) has emerged as a promising alternative. This review critically evaluates cassava peel ash (CPA) as a potential pozzolanic material for cement and concrete applications, with emphasis on its physicochemical characteristics, fresh and hardened performance, and durability behaviour. The literature indicates that CPA, a material derived from the calcination of cassava peels, possesses appreciable pozzolanic potential. It is a lightweight material; however, CPA-based concretes maintain normal weight densities. CPA generally prolongs setting times, reflecting a moderated hydration process. At low to moderate replacement levels, typically not exceeding 15% by mass of cement, CPA-based concretes demonstrate acceptable mechanical performance with notable potential for late-age strength development. Durability performance is significantly enhanced, with improved resistance to acid, sulphate, and chloride ingress, as well as reduced drying shrinkage, primarily due to the pozzolanic activity that promotes matrix densification and pore structure refinement. However, excessive cement substitution adversely affects binder reactivity and matrix integrity, with observed variations in its quality, pozzolanic activity and strength development largely attributed to differences in cassava variety, soil chemistry, combustion conditions and processing methods. Despite all these glaring potentials, major knowledge gaps regarding the long-term durability, alkali-silica reaction susceptibility, thermal performance, life-cycle assessment, industrial-scale production implementation and establishing quality-control protocols persist. Furthermore, predictive modelling and optimization approaches remain underutilized despite their potential to address the inherent variability associated with agro-waste-derived materials. When properly processed and proportioned, CPA is a viable, eco-efficient supplementary cementitious material for durable concrete and low-to-moderate strength applications in sustainable construction. ]]>Authors: Daming Zhang
In this paper, a method for operating AC microgrids in both off-grid or standalone and grid-connected modes is proposed to minimize the use of energy storage by increasing the number of PV panels and curtailing their output power. When the intensity of daylight decreases, power is imported from the main grid through an AC/DC/AC converter or solid-state transformers in parallel to compensate for the shortage. By using a three-phase transformer in Δ-Y connection with Y’s neutral connected to its local grounding system, the effect of unbalanced loads on the AC microgrid is minimized. The AC microgrid is operated at a constant frequency with necessary reactive power compensation, and power qualities of both voltage and frequency can be ensured. ]]>GENETICS 10.21926/obm.genet.2603353
Authors: Maria Bisba Eirini Louizou Konstantinos Tzanakis Thomas Liehr Spiros Vittas
Small supernumerary marker chromosomes (sSMCs) are rare chromosomal abnormalities with diverse outcomes and variable effects that can be detected prenatally. The clinical significance of low-level mosaic sSMCs is often uncertain, and postnatal follow-up is essential to assess phenotypic outcomes. A fetus in whom a low-level mosaic sSMC (8%) was detected during prenatal testing is reported. The sSMC was found in 12 out of 150 metaphases examined by conventional karyotype, followed by molecular cytogenetic analyses (chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH)). Detailed ultrasound examination during the whole pregnancy revealed no structural abnormalities or other fetal complications and the child was born at term. Postnatal clinical investigation was conducted to evaluate the phenotypic impact of the sSMC and demonstrated normal early growth and neurodevelopment during the first nine months of life. Prenatal testing revealed a de novo sSMC in a low-level mosaic state. Evaluation of the sSMC revealed that the origin is in the pericentromeric region of chromosome 8, consisting predominantly of heterochromatic but also of euchromatic material. Integrating prenatal detection, molecular characterization, and postnatal clinical evaluation is crucial for managing cases with low-level prenatal mosaic sSMCs. Comprehensive follow-up is essential for better prognostic counseling and management in affected children. ]]>NEUROBIOLOGY 10.21926/obm.neurobiol.2603347
Authors: Daniel A. Encarnacion-Santos Andrey Vladimirovish Dubovoy Gennady Chmutin Egor Chmutin Emmanuel Batista-Geraldino Shahboz Boboev Ibrohimovich Adam Romanovish Mainer
Moyamoya disease (MMD) is a chronic, progressive cerebrovascular disorder characterized by stenosis of the terminal portion of the bilateral internal carotid arteries and the formation of an abnormal collateral vascular network at the skull base. This condition was first described by Suzuki and Takaku in 1969. This case report aims to describe the surgical management and the pathological and physiological characteristics of moyamoya disease in a child, focusing on a rare case involving an infant with Down syndrome also affected by MMD. We report an 18-month-old child who presented to the emergency department with jerky movements, brief episodes of staring or blanking, muscle weakness (lasting up to 5 minutes), rigidity, drooling, and behavioral changes. These symptoms, identified as seizures, recurred 30 minutes later. The infant also exhibited signs of right hemiparesis and a Glasgow Coma Scale (GCS) score of 9-12. Magnetic Resonance Imaging (MRI) suggested the diagnosis, which was subsequently confirmed by cerebral angiography as Moyamoya disease (MMD). The patient underwent direct extracranial-intracranial (EC-IC) revascularization. This involved a frontoparietotemporal osteoplastic craniotomy, followed by microsurgical anastomosis between the parietal branch of the left superficial temporal artery (STA) and the M4 segment of the left middle cerebral artery (MCA), supplemented with encephaloduromyoperiosynangiosis. Postoperatively, the patient developed hydrocephalus secondary to ventricular dilation. Consequently, a surgical reintervention was planned. Surgical Reintervention: During the reintervention, 350 mL of cerebrospinal fluid (CSF) was manually extracted with a syringe to reduce intracranial pressure, and an external ventricular drain (EVD) was placed intraoperatively to facilitate ongoing CSF drainage. Following the surgical reintervention, the patient was admitted to the ICU. Management included conservative treatment and antibiotics, with particular attention to patient comfort through hydration and the control of fever and hydrocephalus. ]]>NEUROBIOLOGY 10.21926/obm.neurobiol.2603346
Authors: Helen Cyntia Mago Valentinus Besin Astuti Prodjohardjono Amelia Nur Vidyanti Waode Fifin Ervina Farizky Martriano Humardani Lisa Thalia Mulyanata
Alzheimer’s disease is one of the most prevalent neurodegenerative diseases among older people. Generally, there are two main pathologies of Alzheimer’s disease, including the accumulation of amyloid beta and the hyperphosphorylation of the microtubule-associated Tau protein in the brain. Recently, more studies have discovered that changes in the immune system can be one of the causes of amyloid-beta deposits. Amyloid-beta is a product of the breakdown of the glycoprotein amyloid precursor protein, a transmembrane protein that is cleaved by β-secretase and γ-secretase. In the brain, amyloid-beta deposits can trigger microglia activation, which helps eliminate the deposits. However, microglia activation may induce neuroinflammation by releasing pro-inflammatory cytokines and damage the blood-brain barrier, which can cause an influx of peripheral immune cells, including the adaptive immune system, into the brain. The role of the adaptive immune system in Alzheimer’s disease pathology is quite complicated and may alter due to aging. Aging can directly alter the immune system by reducing protective immunity through reduced production of naïve T cells and increased memory T cells. The increase in memory T cells, which have already recognized specific antigens, such as amyloid beta, may act as amyloid beta-reactive T cells and induce activation and release of amyloid beta-specific antibodies from B cells. This condition increases neuroinflammatory processes. Several drugs that directly target the immune system showed promising results as Alzheimer’s disease progressed. However, due to limited data, inconsistent results, and late adverse outcome effects, these drugs still require further research. ]]>Authors: Geise Camila Ribeiro Pedro Fernandes Floriatan Santos Costa Sandra Aparecida de Assis
The rising demand for enzymes with improved properties has driven continuous developments in enzyme technology, including enzymatic formulation. Enzyme formulation primarily aims to minimize losses in enzymatic activity during transport, storage and use. One strategy to mitigate enzyme inactivation is to include stabilizing agents or metal ions that preserve enzyme structure and activity. Thus, in this work, we evaluated stabilization strategies for β-glucosidase produced by the yeasts Rhodotorula oryzicola and Saccharomyces cerevisiae using various chemical additives. The most effective additives were then applied to obtain a formulation with improved enzymatic activity. KCl, ZnSO4, EDTA, SDS, Triton X-100, Tween 20 and Tween 80 were tested as potential stabilizers for β-glucosidase. The three best stabilizers for each enzymatic sample were used in a simplex-centroid mixture design to evaluate possible synergistic effects and obtain a stable enzyme formulation. The formulations that yielded the highest enzymatic activity contained 2.5 mM of ZnSO4 and 0.375% of Tween 20 for β-glucosidase from R. oryzicola, and 0.5 mM of ZnSO4 and 2.5 mM of EDTA for the enzyme from S. cerevisiae, showing relative activities of 313.60% and 302.11%, respectively. The results obtained in our study show that both yeasts produce β-glucosidases with good tolerance to chemical additives, and that some of these additives can be used to obtain more stable enzymatic formulations with enhanced catalytic efficiency. ]]>