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Neurodegeneration in Cognitive Impairment and Mood Disorders for Experimental, Clinical and Translational Neuropsychiatry

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A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Neurobiology and Clinical Neuroscience".

Deadline for manuscript submissions: closed (31 October 2023) | Viewed by 44649

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Special Issue Editors

Dr. Simone Battaglia

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Guest Editor

1. Department of Psychology, University of Turin, Turin, Italy
2. Center for Studies and Research in Cognitive Neuroscience, Department of Psychology, University of Bologna, Bologna, Italy
Interests: NIBS techniques; TMS; skin conductance; heart rate variability; fear conditioning; fear learning; learning; neuropsychology; prefrontal cortex; amygdala; hippocampus; anxiety; depression; working memory; PTSD; skin conductance responses; psychophysiology; error-related negativity; EEG; tDCS; Alzheimer’s disease; PIT; stress-related disorders; Parkinson’s disease; resilience; memory; neurologic patients; cognitive decisions; fMRI; translational and molecular psychiatry
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Dr. Masaru Tanaka

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Guest Editor

Danube Neuroscience Research Laboratory, HUN-REN-SZTE Neuroscience Research Group, Hungarian Research Network, University of Szeged (HUN-REN-SZTE), Tisza Lajos krt. 113, H-6725 Szeged, Hungary
Interests: depression; anxiety; dementia pain; their comorbidities nature; translational research in neurological diseases and psychiatric disorders
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Neurodegeneration is the progressive atrophy and subsequent functional loss of neurons, which is responsible for the pathogenesis of neurodegenerative diseases as well as psychiatric disorders. The degenerative change of neurons may take place from molecular, cellular, histological, and functional to organizational levels, may initiate in the prodromal stage as early as during the gestational period in neurodevelopmental disorders, and may proceed to progression and exacerbation of neuropsychiatric symptoms in mental illnesses. Particularly important is to understand degenerative change in the neural correlates of consciousness and attention to cognitive and emotional domains in the development of neuropsychiatric disorders. Thus, probing neurodegenerative change carries great importance in terms of detecting susceptibility, understanding pathogenesis and progression, and discovering novel therapeutic targets. Moreover, many branches of neuroscience can help us to understand the underlying biological factors and neural computations behind brain impairments, neurodegeneration, and psychiatric disorders, as well as determine where and how to focus research and treatment. Currently, the great majority of neurodegenerative diseases lack effective disease-modifying treatments, thus highlighting the urgent need for new and effective therapeutic strategies. In recent years, non-invasive brain stimulation (NIBS) techniques, such as transcranial magnetic stimulation (TMS) and transcranial electric current stimulation (TES), have been developed and are currently being investigated in patients with neurodegenerative disorders for both diagnostic and therapeutic purposes.

This Special Issue highlights the most recent advances in experimental, clinical, and translational research in the fields of neuropsychiatry, focusing on neurodegeneration and neural correlates in the development of cognitive impairment and psychiatric emotional disturbance. We cordially invite authors to contribute comprehensive review and original research articles focusing on (but not limited to) the following:

Etiology, pathogenesis, and progression mechanisms;
Early diagnosis including biomarkers, bioimaging, and biosensors;
Prophylactic, disease-modifying, and therapeutic strategies, novel targets;
Novel drug discovery and development, naturally driven biomedicines, natural bioactive molecules and vaccines;
Preclinical in vitro models and animal models;
Bench-to-bedside translational research;
Bedside-to-bench translational research;
Non-invasive brain stimulation (NIBS) to diagnosis and treatment of neurodegenerative and psychiatric disorders.

Dr. Simone Battaglia
Dr. Masaru Tanaka
Guest Editors

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Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Biomedicines is an international peer-reviewed open access monthly journal published by MDPI.

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Keywords

Alzheimer’s disease
Parkinson’s disease
aging decline
mild cognitive impairment
multiple sclerosis
stroke
psychiatric disorders
depressive disorder
bipolar disorder
post-traumatic stress disorder
anxiety disorder
schizophrenia
somatic symptom disorder
autism spectrum disorder
hyperactive attention deficit disorder
learning disabilities
acquired brain damage
altered cognitive processes
brain functional impairment
neurocognitive disorders
cognitive, behavioral, and functional disorders
acquired trauma
brain plasticity and connectivity
non-invasive brain stimulation
diagnosis and treatment
functional evidence of altered cognition and connectivity

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Neurodegeneration in Cognitive Impairment and Mood Disorders for Experimental, Clinical, and Translational Neuropsychiatry—Second Edition in Biomedicines (5 articles)

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Editorial

Jump to: Research, Review, Other

9 pages, 273 KiB

Open AccessEditorial

Neurodegeneration in Cognitive Impairment and Mood Disorders for Experimental, Clinical and Translational Neuropsychiatry

by Simone Battaglia, Alessio Avenanti, László Vécsei and Masaru Tanaka

Biomedicines 2024, 12(3), 574; https://doi.org/10.3390/biomedicines12030574 - 5 Mar 2024

Cited by 20 | Viewed by 6254

Abstract

Neurodegeneration poses a significant challenge for the fields of neuroscience and medicine, as it is the underlying cause of the development and advancement of numerous neurodegenerative and psychiatric disorders [...] Full article

(This article belongs to the Special Issue Neurodegeneration in Cognitive Impairment and Mood Disorders for Experimental, Clinical and Translational Neuropsychiatry)

Research

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12 pages, 1617 KiB

Open AccessArticle

Supplementation with a Symbiotic Induced Neuroprotection and Improved Memory in Rats with Ischemic Stroke

by Yolanda Cruz-Martínez, Leslie Aguilar-Ponce, Alejandra Romo-Araiza, Almudena Chávez-Guerra, Susana Martiñón, Andrea P. Ibarra-García, Stella Arias-Santiago, Vanessa Gálvez-Susano and Antonio Ibarra

Biomedicines 2024, 12(1), 209; https://doi.org/10.3390/biomedicines12010209 - 17 Jan 2024

Cited by 4 | Viewed by 1756

Abstract

After an ischemic stroke, various harmful mechanisms contribute to tissue damage, including the inflammatory response. The increase in pro-inflammatory cytokines has been related to greater damage to the neural tissue and the promotion of neurological alterations, including cognitive impairment. Recent research has shown that the use of prebiotics and/or probiotics counteracts inflammation and improves cognitive function through the production of growth factors, such as brain-derived neurotrophic factor (BDNF), by reducing inflammatory molecules. Therefore, in this study, the effect of the symbiotic inulin and Enterococcus faecium on neuroprotection and memory improvement was evaluated in a rat model of transient middle cerebral artery occlusion (tMCAO). In order to accomplish this, the animals were subjected to ischemia; the experimental group was supplemented with the symbiotic and the control group with the vehicle. The neurological deficit as well as spatial and working memory were evaluated using the Zea Longa scale, Morris water maze, and the eight-arm maze tests, respectively. Infarct size, the levels of BDNF, and tumor necrosis factor-alpha (TNF-α) were also assessed. The results show that supplementation with the symbiotic significantly diminished the neurological deficit and infarct size, improved memory and learning, increased BDNF expression, and reduced TNF-α production. These findings provide new evidence about the therapeutic use of symbiotics for ischemic stroke and open up the possibilities for the design of further studies. Full article

(This article belongs to the Special Issue Neurodegeneration in Cognitive Impairment and Mood Disorders for Experimental, Clinical and Translational Neuropsychiatry)

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13 pages, 1158 KiB

Open AccessArticle

Unlocking the Medicinal Mysteries: Preventing Lacunar Stroke with Drug Repurposing

by Linjing Zhang, Fan Wang, Kailin Xia, Zhou Yu, Yu Fu, Tao Huang and Dongsheng Fan

Biomedicines 2024, 12(1), 17; https://doi.org/10.3390/biomedicines12010017 - 20 Dec 2023

Cited by 3 | Viewed by 2237

Abstract

Currently, only the general control of the risk factors is known to prevent lacunar cerebral infarction, but it is unknown which type of medication for controlling the risk factors has a causal relationship with reducing the risk of lacunar infarction. To unlock this medical mystery, drug-target Mendelian randomization analysis was applied to estimate the effect of common antihypertensive agents, hypolipidemic agents, and hypoglycemic agents on lacunar stroke. Lacunar stroke data for the transethnic analysis were derived from meta-analyses comprising 7338 cases and 254,798 controls. We have confirmed that genetic variants mimicking calcium channel blockers were found to most stably prevent lacunar stroke. The genetic variants at or near HMGCR, NPC1L1, and APOC3 were predicted to decrease lacunar stroke incidence in drug-target MR analysis. These variants mimic the effects of statins, ezetimibe, and antisense anti-apoC3 agents, respectively. Genetically proxied GLP1R agonism had a marginal effect on lacunar stroke, while a genetically proxied improvement in overall glycemic control was associated with reduced lacunar stroke risk. Here, we show that certain categories of drugs currently used in clinical practice can more effectively reduce the risk of stroke. Repurposing several drugs with well-established safety and low costs for lacunar stroke prevention should be given high priority when doctors are making decisions in clinical practice. This may contribute to healthier brain aging. Full article

(This article belongs to the Special Issue Neurodegeneration in Cognitive Impairment and Mood Disorders for Experimental, Clinical and Translational Neuropsychiatry)

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17 pages, 2857 KiB

Open AccessArticle

Cognition in Patients with Schizophrenia: Interplay between Working Memory, Disorganized Symptoms, Dissociation, and the Onset and Duration of Psychosis, as Well as Resistance to Treatment

by Georgi Panov, Silvana Dyulgerova and Presyana Panova

Biomedicines 2023, 11(12), 3114; https://doi.org/10.3390/biomedicines11123114 - 22 Nov 2023

Cited by 6 | Viewed by 2226

Abstract

Schizophrenia is traditionally associated with the presence of psychotic symptoms. In addition to these, cognitive symptoms precede them and are present during the entire course of the schizophrenia process. The present study aims to establish the relationship between working memory (short-term memory and attention), the features of the clinical picture, and the course of the schizophrenic process, gender distribution and resistance to treatment. Methods: In total, 105 patients with schizophrenia were observed. Of these, 66 were women and 39 men. Clinical status was assessed using the Positive and Negative Syndrome Scale (PANSS), Brief Psychiatric Rating Scale (BPRS), Dimensional Obsessive–Compulsive Symptom Scale (DOCS), scale for dissociative experiences (DES) and Hamilton Depression Rating Scale (HAM-D)—cognitive functions using the Luria 10-word test with fixation assessment, reproduction and attention analysis. The clinical evaluation of resistance to the treatment showed that 45 patients were resistant to the ongoing medical treatment and the remaining 60 had an effect from the therapy. Results: Our study showed that, in most patients, we found disorders of working memory and attention. In 69.82% of the patients, we found problems with fixation; in 38.1%, problems with reproduction; and in 62.86%, attention disorders. Conducting a regression analysis showed that memory and attention disorders were mainly related to the highly disorganized symptoms scale, the duration of the schizophrenic process and the dissociation scale. It was found that there was a weaker but significant association between the age of onset of schizophrenia and negative symptoms. In the patients with resistant schizophrenia, much greater violations of the studied parameters working memory and attention were found compared to the patients with an effect from the treatment. Conclusion: Impairments in working memory and attention are severely affected in the majority of patients with schizophrenia. Their involvement is most significant in patients with resistance to therapy. Factors associated with the highest degree of memory and attention impairment were disorganized symptoms, duration of schizophrenia, dissociative symptoms and, to a lesser extent, onset of illness. This analysis gives us the right to consider that the early and systematic analysis of cognition is a reliable marker for tracking both clinical dynamics and the effect of treatment. Full article

(This article belongs to the Special Issue Neurodegeneration in Cognitive Impairment and Mood Disorders for Experimental, Clinical and Translational Neuropsychiatry)

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11 pages, 805 KiB

Open AccessArticle

The Blood Concentration of Metallic Nanoparticles Is Related to Cognitive Performance in People with Multiple Sclerosis: An Exploratory Analysis

by Marcela de Oliveira, Felipe Balistieri Santinelli, Paulo Noronha Lisboa-Filho and Fabio Augusto Barbieri

Biomedicines 2023, 11(7), 1819; https://doi.org/10.3390/biomedicines11071819 - 25 Jun 2023

Cited by 9 | Viewed by 1896

Abstract

The imbalance in the concentration of metallic nanoparticles has been demonstrated to play an important role in multiple sclerosis (MS), which may impact cognition. Biomarkers are needed to provide insights into the pathogenesis and diagnosis of MS. They can be used to gain a better understanding of cognitive decline in people with MS (pwMS). In this study, we investigated the relationship between the blood concentration of metallic nanoparticles (blood nanoparticles) and cognitive performance in pwMS. First, four mL blood samples, clinical characteristics, and cognitive performance were obtained from 21 pwMS. All participants had relapse–remitting MS, with a score of ≤4.5 points in the expanded disability status scale. They were relapse-free in the three previous months from the day of collection and had no orthopedic, muscular, cardiac, and cerebellar diseases. We quantified the following metallic nanoparticles: aluminum, chromium, copper, iron, magnesium, nickel, zinc, and total concentration. Cognitive performance was measured by mini-mental state examination (MMSE) and the symbol digit modalities test (SDMT). Pearson’s and Spearman’s correlation coefficients and stepwise linear regression were calculated to assess the relationship between cognitive performance and blood nanoparticles. We found that better performance in SDMT and MMSE was related to higher total blood nanoparticles (r = 0.40; p < 0.05). Also, better performance in cognitive processing speed and attention (SDMT) and mental state (MMSE) were related to higher blood iron (r = 0.44; p < 0.03) and zinc concentrations (r = 0.41; p < 0.05), respectively. The other metallic nanoparticles (aluminum, chromium, copper, magnesium, and nickel) did not show a significant relationship with the cognitive parameters (p > 0.05). Linear regression estimated a significant association between blood iron concentration and SDMT performance. In conclusion, blood nanoparticles are related to cognitive performance in pwMS. Our findings suggest that the blood concentration of metallic nanoparticles, particularly the iron concentration, is a promising biomarker for monitoring cognitive impairment in pwMS. Full article

(This article belongs to the Special Issue Neurodegeneration in Cognitive Impairment and Mood Disorders for Experimental, Clinical and Translational Neuropsychiatry)

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11 pages, 1633 KiB

Open AccessArticle

Propentofylline Improves Thiol-Based Antioxidant Defenses and Limits Lipid Peroxidation following Gliotoxic Injury in the Rat Brainstem

by Deborah E. M. Baliellas, Marcelo P. Barros, Cristina V. Vardaris, Maísa Guariroba, Sandra C. Poppe, Maria F. Martins, Álvaro A. F. Pereira and Eduardo F. Bondan

Biomedicines 2023, 11(6), 1652; https://doi.org/10.3390/biomedicines11061652 - 7 Jun 2023

Cited by 9 | Viewed by 1479

Abstract

Propentofylline (PROP) is a methylated xanthine compound that diminishes the activation of microglial cells and astrocytes, which are neuronal cells strongly associated with many neurodegenerative diseases. Based on previously observed remyelination and neuroprotective effects, PROP has also been proposed to increment antioxidant defenses and to prevent oxidative damage in neural tissues. Since most neurodegenerative processes have free radicals as molecular pathological agents, the aim of this study was to evaluate the antioxidant effects of 12.5 mg·kg⁻¹·day⁻¹ PROP in plasma and the brainstem of Wistar rats exposed to the gliotoxic agent 0.1% ethidium bromide (EB) for 7–31 days. The bulk of the data here demonstrates that, after 7 days of EB treatment, TBARS levels were 2-fold higher in the rat CNS than in control, reaching a maximum of 2.4-fold within 15 days. After 31 days of EB treatment, lipoperoxidation in CNS was still 65% higher than that in the control. Clearly, PROP treatment limited the progression of lipoperoxidation in EB-oxidized CNS: it was, for example, 76% lower than in the EB-treated group after 15 days. Most of these effects were associated with PROP-induced activity of glutathione reductase in the brainstem: the EB + PROP group showed 59% higher GR activity than that of the EB or control groups within 7 days. In summary, aligning with previous studies from our group and with literature about MTXs, we observed that propentofylline (PROP) improved the thiol-based antioxidant defenses in the rat brainstem by the induction of the enzymatic activity of glutathione reductase (GR), which diminished lipid oxidation progression and rebalanced the redox status in the CNS. Full article

(This article belongs to the Special Issue Neurodegeneration in Cognitive Impairment and Mood Disorders for Experimental, Clinical and Translational Neuropsychiatry)

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30 pages, 5645 KiB

Open AccessArticle

Screening for Neuroprotective and Rapid Antidepressant-like Effects of 20 Essential Oils

by Khoa Nguyen Tran, Nhi Phuc Khanh Nguyen, Ly Thi Huong Nguyen, Heung-Mook Shin and In-Jun Yang

Biomedicines 2023, 11(5), 1248; https://doi.org/10.3390/biomedicines11051248 - 23 Apr 2023

Cited by 18 | Viewed by 4800

Abstract

Depression is a serious psychiatric disorder with high prevalence, and the delayed onset of antidepressant effects remains a limitation in the treatment of depression. This study aimed to screen essential oils that have the potential for rapid-acting antidepressant development. PC12 and BV2 cells were used to identify essential oils with neuroprotective effects at doses of 0.1 and 1 µg/mL. The resulting candidates were treated intranasally (25 mg/kg) to ICR mice, followed by a tail suspension test (TST) and an elevated plus maze (EPM) after 30 min. In each effective essential oil, five main compounds were computationally analyzed, targeting glutamate receptor subunits. As a result, 19 essential oils significantly abolished corticosterone (CORT)-induced cell death and lactate dehydrogenase (LDH) leakage, and 13 reduced lipopolysaccharide (LPS)-induced tumor necrosis factor alpha (TNF-α) and interleukin 6 (IL-6). From in vivo experiments, six essential oils decreased the immobility time of mice in the TST, in which Chrysanthemum morifolium Ramat. and Myristica fragrans Houtt. also increased time and entries into the open arms of the EPM. Four compounds including atractylon, α-curcumene, α-farnesene, and selina-4(14),7(11)-dien-8-one had an affinity toward GluN1, GluN2B, and Glu2A receptor subunits surpassed that of the reference compound ketamine. Overall, Atractylodes lancea (Thunb.) DC and Chrysanthemum morifolium Ramat essential oils are worthy of further research for fast-acting antidepressants through interactions with glutamate receptors, and their main compounds (atractylon, α-curcumene, α-farnesene, and selina-4(14),7(11)-dien-8-one) are predicted to underlie the fast-acting effect. Full article

(This article belongs to the Special Issue Neurodegeneration in Cognitive Impairment and Mood Disorders for Experimental, Clinical and Translational Neuropsychiatry)

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20 pages, 8178 KiB

Open AccessArticle

Atorvastatin and Nitrofurantoin Repurposed in the Context of Breast Cancer and Neuroblastoma Cells

by Catarina Moura, Ana Salomé Correia, Mariana Pereira, Eduarda Ribeiro, Joana Santos and Nuno Vale

Biomedicines 2023, 11(3), 903; https://doi.org/10.3390/biomedicines11030903 - 15 Mar 2023

Cited by 3 | Viewed by 2030

Abstract

Chemotherapy still plays a central role in the treatment of cancer. However, it is often accompanied by off-target effects that result in severe side-effects and development of drug resistance. The aim of this work was to study the efficacy of different repurposed drugs on the viability of MCF-7 and SH-SY5Y breast cancer and neuroblastoma cells, respectively. In addition, combinations of these repurposed drugs with a classical chemotherapeutic drug (doxorubicin) were also carried out. The cytotoxic effects of the repurposed drugs were evaluated individually and in combination in both cancer cell lines, assessed by MTT assays and morphological evaluation of the cells. The results demonstrated that atorvastatin reduced the viability of both cell lines. However, nitrofurantoin was able to induce cytotoxic effects in MCF-7 cells, but not in SH-SY5Y cells. The combinations of the repurposed drugs with doxorubicin induced a higher inhibition on cell viability than the repurposed drugs individually. The combination of the two repurposed drugs demonstrated that they potentiate each other. Synergism studies revealed that the combination of doxorubicin with the two repurposed drugs was more effective in SH-SY5Y cells, compared to MCF-7 cells. Taken together, our preliminary study highlights the potential use of atorvastatin and nitrofurantoin in the context of breast cancer and neuroblastoma. Full article

(This article belongs to the Special Issue Neurodegeneration in Cognitive Impairment and Mood Disorders for Experimental, Clinical and Translational Neuropsychiatry)

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12 pages, 2020 KiB

Open AccessArticle

Stimulated Parotid Saliva Is a Better Method for Depression Prediction

by Yangyang Cui, Hankun Zhang, Song Wang, Junzhe Lu, Jinmei He, Lanlan Liu and Weiqiang Liu

Biomedicines 2022, 10(9), 2220; https://doi.org/10.3390/biomedicines10092220 - 7 Sep 2022

Cited by 9 | Viewed by 4190

Abstract

Background: Saliva cortisol is considered to be a biomarker of depression prediction. However, saliva collection methods can affect the saliva cortisol level. Objective: This study aims to determine the ideal saliva collection method and explore the application value of saliva cortisol in depression prediction. Methods: 30 depressed patients and 30 healthy controls were instructed to collect saliva samples in the morning with six collection methods. Simultaneous venous blood was collected. Enzyme-linked immunosorbent assay was used to determine the cortisol level. The 24-observerrated Hamilton depression rating scale (HAMD-24) was used to assess the severity of depression. Results: The significant differences in saliva cortisol levels depend on the saliva collection methods. The level of unstimulated whole saliva cortisol was most correlated with blood (r = 0.91). The stimulated parotid saliva cortisol can better predict depression. The area under the curve was 0.89. In addition, the saliva cortisol level of the depression patients was significantly higher than the healthy controls. The correlation between the cortisol level and the HAMD-24 score was highly significant. The higher the saliva cortisol level, the higher the HAMD-24 score. Conclusions: All the above findings point to an exciting opportunity for non-invasive monitoring of cortisol through saliva. Full article

(This article belongs to the Special Issue Neurodegeneration in Cognitive Impairment and Mood Disorders for Experimental, Clinical and Translational Neuropsychiatry)

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Review

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17 pages, 767 KiB

Open AccessReview

The Beneficial Role of Apigenin against Cognitive and Neurobehavioural Dysfunction: A Systematic Review of Preclinical Investigations

by Tosin A. Olasehinde and Oyinlola O. Olaokun

Biomedicines 2024, 12(1), 178; https://doi.org/10.3390/biomedicines12010178 - 13 Jan 2024

Cited by 7 | Viewed by 3415

Abstract

Apigenin is a flavone widely present in different fruits and vegetables and has been suggested to possess neuroprotective effects against some neurological disorders. In this study, we systematically reviewed preclinical studies that investigated the effects of apigenin on learning and memory, locomotion activity, anxiety-like behaviour, depressive-like behaviour and sensorimotor and motor coordination in rats and mice with impaired memory and behaviour. We searched SCOPUS, Web of Science, PubMed and Google Scholar for relevant articles. A total of 34 studies were included in this review. The included studies revealed that apigenin enhanced learning and memory and locomotion activity, exhibited anxiolytic effects, attenuated depressive-like behaviour and improved sensorimotor and motor coordination in animals with cognitive impairment and neurobehavioural deficit. Some of the molecular and biochemical mechanisms of apigenin include activation of the ERK/CREB/BDNF signalling pathway; modulation of neurotransmitter levels and monoaminergic, cholinergic, dopaminergic and serotonergic systems; inhibition of pro-inflammatory cytokine production; and attenuation of oxidative neuronal damage. These results revealed the necessity for further research using established doses and short or long durations to ascertain effective and safe doses of apigenin. These results also point to the need for a clinical experiment to ascertain the therapeutic effect of apigenin. Full article

(This article belongs to the Special Issue Neurodegeneration in Cognitive Impairment and Mood Disorders for Experimental, Clinical and Translational Neuropsychiatry)

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18 pages, 570 KiB

Open AccessReview

Unraveling Down Syndrome: From Genetic Anomaly to Artificial Intelligence-Enhanced Diagnosis

by Aabid Mustafa Koul, Faisel Ahmad, Abida Bhat, Qurat-ul Aein, Ajaz Ahmad, Aijaz Ahmad Reshi and Rauf-ur-Rashid Kaul

Biomedicines 2023, 11(12), 3284; https://doi.org/10.3390/biomedicines11123284 - 12 Dec 2023

Cited by 4 | Viewed by 5277

Abstract

Down syndrome arises from chromosomal non-disjunction during gametogenesis, resulting in an additional chromosome. This anomaly presents with intellectual impairment, growth limitations, and distinct facial features. Positive correlation exists between maternal age, particularly in advanced cases, and the global annual incidence is over 200,000 cases. Early interventions, including first and second-trimester screenings, have improved DS diagnosis and care. The manifestations of Down syndrome result from complex interactions between genetic factors linked to various health concerns. To explore recent advancements in Down syndrome research, we focus on the integration of artificial intelligence (AI) and machine learning (ML) technologies for improved diagnosis and management. Recent developments leverage AI and ML algorithms to detect subtle Down syndrome indicators across various data sources, including biological markers, facial traits, and medical images. These technologies offer potential enhancements in accuracy, particularly in cases complicated by cognitive impairments. Integration of AI and ML in Down syndrome diagnosis signifies a significant advancement in medical science. These tools hold promise for early detection, personalized treatment, and a deeper comprehension of the complex interplay between genetics and environmental factors. This review provides a comprehensive overview of neurodevelopmental and cognitive profiles, comorbidities, diagnosis, and management within the Down syndrome context. The utilization of AI and ML represents a transformative step toward enhancing early identification and tailored interventions for individuals with Down syndrome, ultimately improving their quality of life. Full article

(This article belongs to the Special Issue Neurodegeneration in Cognitive Impairment and Mood Disorders for Experimental, Clinical and Translational Neuropsychiatry)

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22 pages, 1332 KiB

Open AccessReview

Biomarkers of Neurodegeneration in Post-Traumatic Stress Disorder: An Integrative Review

by Ravi Philip Rajkumar

Biomedicines 2023, 11(5), 1465; https://doi.org/10.3390/biomedicines11051465 - 17 May 2023

Cited by 10 | Viewed by 3055

Abstract

Post-Traumatic Stress Disorder (PTSD) is a chronic psychiatric disorder that occurs following exposure to traumatic events. Recent evidence suggests that PTSD may be a risk factor for the development of subsequent neurodegenerative disorders, including Alzheimer’s dementia and Parkinson’s disease. Identification of biomarkers known to be associated with neurodegeneration in patients with PTSD would shed light on the pathophysiological mechanisms linking these disorders and would also help in the development of preventive strategies for neurodegenerative disorders in PTSD. With this background, the PubMed and Scopus databases were searched for studies designed to identify biomarkers that could be associated with an increased risk of neurodegenerative disorders in patients with PTSD. Out of a total of 342 citations retrieved, 29 studies were identified for inclusion in the review. The results of these studies suggest that biomarkers such as cerebral cortical thinning, disrupted white matter integrity, specific genetic polymorphisms, immune-inflammatory alterations, vitamin D deficiency, metabolic syndrome, and objectively documented parasomnias are significantly associated with PTSD and may predict an increased risk of subsequent neurodegenerative disorders. The biological mechanisms underlying these changes, and the interactions between them, are also explored. Though requiring replication, these findings highlight a number of biological pathways that plausibly link PTSD with neurodegenerative disorders and suggest potentially valuable avenues for prevention and early intervention. Full article

(This article belongs to the Special Issue Neurodegeneration in Cognitive Impairment and Mood Disorders for Experimental, Clinical and Translational Neuropsychiatry)

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28 pages, 5110 KiB

Open AccessEditor’s ChoiceSystematic Review

Mercury and Autism Spectrum Disorder: Exploring the Link through Comprehensive Review and Meta-Analysis

by Aleksandar Stojsavljević, Novak Lakićević and Slađan Pavlović

Biomedicines 2023, 11(12), 3344; https://doi.org/10.3390/biomedicines11123344 - 18 Dec 2023

Cited by 5 | Viewed by 3124

Abstract

Mercury (Hg) is a non-essential trace metal with unique neurochemical properties and harmful effects on the central nervous system. In this study, we present a comprehensive review and meta-analysis of peer-reviewed research encompassing five crucial clinical matrices: hair, whole blood, plasma, red blood cells (RBCs), and urine. We assess the disparities in Hg levels between gender- and age-matched neurotypical children (controls) and children diagnosed with autism spectrum disorder (ASD) (cases). After applying rigorous selection criteria, we incorporated a total of 60 case-control studies into our meta-analysis. These studies comprised 25 investigations of Hg levels in hair (controls/cases: 1134/1361), 15 in whole blood (controls/cases: 1019/1345), 6 in plasma (controls/cases: 224/263), 5 in RBCs (controls/cases: 215/293), and 9 in urine (controls/cases: 399/623). This meta-analysis did not include the data of ASD children who received chelation therapy. Our meta-analysis revealed no statistically significant differences in Hg levels in hair and urine between ASD cases and controls. In whole blood, plasma, and RBCs, Hg levels were significantly higher in ASD cases compared to their neurotypical counterparts. This indicates that ASD children could exhibit reduced detoxification capacity for Hg and impaired mechanisms for Hg excretion from their bodies. This underscores the detrimental role of Hg in ASD and underscores the critical importance of monitoring Hg levels in ASD children, particularly in early childhood. These findings emphasize the pressing need for global initiatives aimed at minimizing Hg exposure, thus highlighting the critical intersection of human–environment interaction and neurodevelopment health. Full article

(This article belongs to the Special Issue Neurodegeneration in Cognitive Impairment and Mood Disorders for Experimental, Clinical and Translational Neuropsychiatry)

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