Int. J. Dev. Neurosci. [JOURNAL]
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200 papers
A patient with a PTPN11 gene variant complicated with Chiari I malformation and syringomyelia and a review of literatures.
Yi Z, Xue J, Song Z … +3 more , Li F, Yang C, Zhang Y
Int J Dev Neurosci · 2025 Feb · PMID 39653642 · Publisher ↗
BACKGROUND: According to previous literature reports, PTPN11 gene variants account for approximately 50% of Noonan syndrome (NS) cases and 85% of Leopard syndrome (LS) cases. Several patients who were diagnosed with NS o...
BACKGROUND: According to previous literature reports, PTPN11 gene variants account for approximately 50% of Noonan syndrome (NS) cases and 85% of Leopard syndrome (LS) cases. Several patients who were diagnosed with NS or LS complicated with Chiari I malformation (CIM) and/or syringomyelia have been reported to have a PTPN11 variant. However, it is not always clear whether the association between CIM and/or syringomyelia and PTPN11 variants is real or random. We try to explain this phenomenon by reporting a clinical case and making a mini-review. METHODS: We retrospectively described a clinical case in detail and made a genetic test on the proband and her family members using whole-exome sequencing. And made a review of the related literatures. RESULTS: The patient was manifesting progressive abnormal gait and muscle weakness for more than 2 years before she was admitted to our hospital at the age of 5 years and 2 months. On examination, she looked frail and slender. She had short stature, mild intellectual disability, decreased muscle strength in the left limb, thinner left limb, left hollow foot and foot drop, weakened left knee and Achilles tendon reflexes and a positive left Babinski sign. She looked timid and had very little expressive language. MRI of the brain and spine revealed CIM and syringomyelia with hydrops. Cardiac ultrasonography revealed an ostium secundum defect. ECG examination showed no abnormalities. She received a spinal cavity subarachnoid shunt; the symptoms were relieved to some extent, and the cavity in the lumbar vertebrae was significantly reduced after the surgery. Genetic testing found a variant, c. 922A>G (p. Asn308Asp) in the PTPN11 gene. Both parents were wild-type at this locus. A literature review found that 31 patients with NS or LS were complicated with CIM, syringomyelia or both. Together with our patient, a total of six patients in this group had the PTPN11 gene variant. Among them, four were complicated with both CIM and syringomyelia, and two were complicated with CIM only. CONCLUSIONS: We report another case with a PTPN11 variant that was complicated with both CIM and syringomyelia. It suggests that CIM and syringomyelia may be clinical manifestations of PTPN11 variation-related diseases. This phenomenon may be underrated due to limitations of genetic diagnostic methods in the past. We strongly suggest routine craniocerebral and spinal MRI scans and genetic testing for patients suspected of having NS or LS.
Oxidative stress and apoptosis of the spinal cord in a rat model of retinoic acid-induced neural tube defects.
Wu P, Shen N, Feng S … +3 more , Liu W, Wang J, Wang C
Int J Dev Neurosci · 2025 Feb · PMID 39633511 · Publisher ↗
Neural tube defects (NTDs) are severe congenital anomalies that significantly impact the central nervous system, arising from the neural tube's failure to close during early embryogenesis. In this study, we investigated...
Neural tube defects (NTDs) are severe congenital anomalies that significantly impact the central nervous system, arising from the neural tube's failure to close during early embryogenesis. In this study, we investigated NTDs and associated pathophysiological mechanisms in foetal rats following exposure to all-trans retinoic acid (atRA). Out of 168 embryos from 15 pregnant rats in the experimental group, 78% displayed NTDs with notable spinal deformities, primarily in the lumbar-sacral region, similar to human cases. Body weight and crown-rump length (CRL) measurements indicated significant growth impairment in the NTD group compared to controls, while the atRA-treated group without NTDs showed no notable differences in growth. Immunohistochemistry (IHC) results demonstrated decreased NeuN and PCNA expression in the NTD group's spinal cord. Oxidative stress markers showed markedly reduced superoxide dismutase (SOD) and glutathione peroxidase (GSH-px) activity, alongside increased malondialdehyde (MDA) levels in the NTD group, indicating heightened oxidative stress. Analysis of apoptosis-related proteins revealed elevated Bax and caspase-3 levels, reduced Bcl-2 and lower poly (ADP-ribose) polymerase (PARP) in the NTD group, suggesting a pronounced shift towards proapoptotic pathways, potentially contributing to NTD progression. Our findings indicate that oxidative stress and apoptosis play significant roles in the development of NTDs. Future investigations should aim to pinpoint critical regulatory genes or proteins that might be targeted for therapeutic interventions to alleviate oxidative stress and apoptosis in NTD development.
Ascorbic acid supplementation in adolescent rats ameliorates anxiety-like and depressive-like manifestations of nicotine-ethanol abstinence: Role of oxidative stress, inflammatory, and serotonergic mechanisms.
Najafzadeh A, Mahdizadeh M, Kakhki S … +3 more , Rahimi A, Ahmadi-Soleimani SM, Beheshti F
Int J Dev Neurosci · 2025 Feb · PMID 39632085 · Publisher ↗
BACKGROUND: The present study aims to assess the therapeutic potential of vitamin C (Vit C) on anxiety- and depressive-like behavior induced by abstinence from chronic nicotine-ethanol co-exposure in adolescent male rats...
BACKGROUND: The present study aims to assess the therapeutic potential of vitamin C (Vit C) on anxiety- and depressive-like behavior induced by abstinence from chronic nicotine-ethanol co-exposure in adolescent male rats. MATERIALS AND METHODS: Adolescent male rats were divided into seven experimental groups with ten rats as follows: 1) vehicle, 2) Nicotine (Nic)-Ethanol (Eth): received Nic (2 mg/kg) and Eth (20%) in drinking water from 21 to 42 days of age, 3-5) Nic-Eth-Vit C 100/200/400: received Nic and Eth from 21 to 42 days of age and received Vit C 100/200/400 mg/kg from 43 to 63 days of age, 6) Nic-Eth-Bupropion (Bup)- Naloxone (Nal): received Nic and Eth from 21 to 42 days of age and received Bup and Nal from 43 to 63 days of age, and 7) Vit C 400 mg/kg: received Vit C 400 mg/kg from 43 to 63 days of age. Behavioral assessments were done by elevated plus maze (EPM), forced swimming test (FST), marble burring test (MBT), and open field tests (OFT). Furthermore, specific biochemical variables associated with oxidative, inflammatory, and serotonergic profiles were quantified. RESULTS: According to the obtained results, Nic and Eth induced anxiety and depression in treated rats. We showed that two higher doses of Vit C increases the active struggling time in FST and decreases both the time spent in the peripheral zone of OFT and the time spent in the closed arms of EPM. In addition, animals treated by Vit C buried less number of marbles in MBT compared to their control counterparts. Nic and Eth induced oxidative stress and inflammation in cortical tissues of treated rats. Biochemical parameters were improved in the Nic-Eth group receiving Vit C 200/400 mg/kg and Bup-Nal through establishing a balance between oxidant/anti-oxidant and inflammatory/anti-inflammatory mediators. In addition, serotonin level was increased, while Monoamine oxidase (MAO) activity was notably decreased. CONCLUSION: The present findings support the beneficial effect of Vit C on anxiety- and depressive-like behavior induced by Nic-Eth withdrawal through various mechanisms such as the promotion of antioxidant defense, suppression of inflammatory mediators, and enhancement of serotoninergic function.
The effect of early weaning on feeding behavior parameters in rodents: A systematic review.
Alves SM, de Oliveira EG, Araújo ERDS … +3 more , Silva PBP, de Castro RM, de Souza SL
Int J Dev Neurosci · 2025 Feb · PMID 39624916 · Publisher ↗
Breastfeeding is essential for somatic development, especially neurodevelopment. The abrupt termination of the mother-child bond, early weaning, is a stressful event during the neonatal period. This has lifelong conseque...
Breastfeeding is essential for somatic development, especially neurodevelopment. The abrupt termination of the mother-child bond, early weaning, is a stressful event during the neonatal period. This has lifelong consequences. The impact on neural plasticity will be reflected in behavioral expression, including feeding behavior. This behavior is modulated by encephalic and peripheral structures, such as the serotonergic and dopaminergic neurotransmission systems, as well as hormonal signaling, leptin, and ghrelin. The central nervous system, particularly the hypothalamus, receives information from the gastrointestinal tract to regulate hunger and satiety. Early weaning alters these mechanisms that control feeding behavior. The alterations most commonly reported in the literature are hyperphagia, increased body mass, and molecular alterations related to the control of feeding behavior. Studies have attempted to identify the factors involved in the changes in feeding behavior control caused by early weaning. Furthermore, pharmacological interventions, herbal medicines, calcium supplementation, and physical activity have been investigated as potential means of reversing these changes. Consequently, the objective of this literature review was to analyze the effects of early weaning on the modulation of parameters that act to control feeding behavior.
Genetic machinery which accompanies metaplasticity operates differentially in experimental model of autism.
Benli ET, Babur E, Dursun N … +3 more , Saray H, Barutçu Ö, Süer C
Int J Dev Neurosci · 2025 Feb · PMID 39617393 · Publisher ↗
The present study investigated metaplasticity-related mRNA expressions in valproic acid (VPA)-rats, focusing on the PI3K/AKT pathway. Wistar dams were treated with a single intraperitoneal injection of 600 mg/kg VPA or s...
The present study investigated metaplasticity-related mRNA expressions in valproic acid (VPA)-rats, focusing on the PI3K/AKT pathway. Wistar dams were treated with a single intraperitoneal injection of 600 mg/kg VPA or saline on embryonic day E12.5 or an equal volume of saline solution. Three behavioral tests were conducted on these males' offspring: grid-walking test, negative geotaxis test, and three-chamber social interaction test. Metaplasticity was induced in 60-day-old male progeny by giving high-frequency stimulation for 5 minutes following low-frequency stimulation to the perforant pathway. For the baseline stimulation protocol (n = 6), stimulation was delivered to the dentate gyrus at the previously determined stimulation intensity (0.33 Hz 0.175 msec 30 s) for 75 min. The percent change of slope of field excitatory postsynaptic potential (fEPSP) and amplitude of population spike were calculated 55-60 min after induction protocol. The mRNA levels of PI3K, PTEN, AKT, GSK-3β, and MAPT were measured in the hippocampus by using quantitative rt-PCR. We found that offspring of VPA-treated rats showed significantly impaired sensorimotor coordination, decreased sociability, impaired preference for social novelty, and reduced input-output curve of fEPSP slope, compared to control animals. Despite a similar metaplastic response, mRNA levels of genes of interest were similar but considerably down-regulated after induction in offspring of VPA-treated dams. Our study provides evidence that the induced expression of autism-related genes has evolved to enable an adaptation mechanism during metaplastic control of long-term potentiation.
Investigation of chromosomal anomalies and copy number variations in children diagnosed with autism spectrum disorder by array CGH method.
Kılıçaslan F, Öz Ö, Mutlu MB
Int J Dev Neurosci · 2025 Feb · PMID 39614757 · Publisher ↗
This study aimed to identify the chromosomal anomalies and copy number variations (CNVs) in autism spectrum disorder (ASD) and to provide genotype/phenotype correlations. Fifty-four patients diagnosed with ASD between Ma...
This study aimed to identify the chromosomal anomalies and copy number variations (CNVs) in autism spectrum disorder (ASD) and to provide genotype/phenotype correlations. Fifty-four patients diagnosed with ASD between March 2021 and June 2022 were included in the study. Patients were evaluated by cytogenetic analysis and array comparative genomic hybridisation analysis (aCGH). The structural and numerical chromosomal anomaly was detected in 3.7%, and the CNVs were identified in 18.52% of patients. Of the CNVs detected, 27.3% were identified as pathogenic, 18.2% as likely pathogenic and 54.5% as VUS. The copy number gain rate of the detected CNVs was higher than the copy number losses rate, 70% and 30% respectively. As an important finding in the study, a new pathogenic CNV with a 6.3-mb copy number gain in the 3p22.3p22.2 region, whose gene region had not been previously defined in OMIM, was detected. Identifying a genetic aetiology may provide clinicians with more information about disease prognosis and risk of recurrence.
Improving facial expression recognition for autism with IDenseNet-RCAformer under occlusions.
Selvi S, Parvathy M
Int J Dev Neurosci · 2025 Feb · PMID 39600258 · Publisher ↗
The term 'autism spectrum disorder' describes a neurodevelopmental illness typified by verbal and nonverbal interaction impairments, repetitive behaviour patterns and poor social interaction. Understanding mental states...
The term 'autism spectrum disorder' describes a neurodevelopmental illness typified by verbal and nonverbal interaction impairments, repetitive behaviour patterns and poor social interaction. Understanding mental states from FEs is crucial for interpersonal interaction and social interaction. But when there are occlusions like glasses, facial hair or self-occlusion, it becomes harder to identify facial expressions accurately. This research tackles the issue of identifying facial expressions when parts of the face are occluded and suggests an innovative technique to tackle this difficulty. Creating a strong framework for facial expression recognition (FER) that better handles occlusions and increases recognition accuracy is the goal of this research. Therefore, we propose novel Improved DenseNet-based Residual Cross-Attention Transformer (IDenseNet-RCAformer) system to tackle the partial occlusion FER problem in autism patients. The recognition framework's efficacy is assessed using four datasets of facial expressions, and some preprocessing procedures are conducted to increase the expression recognition efficiency. After that, when recognizing expressions, a simple argmax function is applied to get a forecasted landmark position from a heatmap. Then feature extraction phase, local and global representation are captured from preprocessed images by adopting Inception-ResNet-V2 approach, Cross-Attention Transformer, respectively. Moreover, both features are fused by employing the FusionNet method, thereby enhancing system's training speed and precision. After the features are extracted, an improved DenseNet mechanism is applied to efficiently recognize some variety of facial expressions in partially occluded autism patients. A number of performance metrics are determined and analysed to demonstrate the proposed approach's effectiveness, where the IDenseNet-RCAformer performs best with an accuracy of 98.95%. According to the experimental findings, the proposed framework significantly outperforms the prior recognition frameworks in terms of recognition outcomes.
Pineal gland volume in children with intellectual disability.
Gürbüz AA, Altun H, Tahiroğlu AY … +3 more , Mert GG, Kızıldağ B, Arslan SC
Int J Dev Neurosci · 2024 Dec · PMID 39543936 · Publisher ↗
OBJECTIVE: Pineal gland volume (PGV), which is associated with sleep and circadian rhythm, is known to be changed in some psychiatric disorders such as major depression, mood disorders and schizophrenia. This study aimed...
OBJECTIVE: Pineal gland volume (PGV), which is associated with sleep and circadian rhythm, is known to be changed in some psychiatric disorders such as major depression, mood disorders and schizophrenia. This study aimed to compare the PGV of children with mild and moderate intellectual disability (ID) and healthy children. METHODS: This multicentre retrospective study included 40 children with ID (patient group), aged 6-12 years and 40 age- and sex-matched healthy children (control group). The children were examined for their sociodemographic characteristics and for PGV using magnetic resonance imaging. RESULTS: The PGV of the patient group was significantly larger than that of the controls (p = 0.023). There was no statistically significant difference in PGV between mild and moderate ID. A moderate and positive correlation was found between Weschler Intelligence Scale for Children-revised (WISC-R) performance score and PGV (p = 0.049, r = 0.313) only in the patient group. In the receiver operating characteristic analysis, the area under the curve was 0.648, and the sensitivity was 70.0%, and the specificity was 60.0%. CONCLUSIONS: In conclusion, this study demonstrated that the increased PGV levels were associated with autism spectrum disorder (ASD) and PGV could be a risk factor in the aetiology of ID. Further research with larger sample sizes is needed to clarify this issue.
Combined LinkNet-MBi-LSTM for brain activity recognition with new Stockwell transform features.
Takawale AJ, Paithane AN
Int J Dev Neurosci · 2024 Dec · PMID 39533659 · Publisher ↗
Recognizing brain activity from EEG waves is an important field of study in biomedical engineering and neuroscience. Conventional approaches usually begin with signal processing techniques to extract features from the EE...
Recognizing brain activity from EEG waves is an important field of study in biomedical engineering and neuroscience. Conventional approaches usually begin with signal processing techniques to extract features from the EEG data, and then machine learning algorithms are applied to classify the data. However, the spatial resolution of these EEG signals is low, which makes it difficult to pinpoint the exact location of the neural activity source in the brain. There are ongoing initiatives to use DL-based brain activity recognition algorithms to overcome these constraints. Therefore, this work presents a novel hybrid framework for brain activity detection using the enhanced Stockwell transform and an EEG signal that is called LinkNet and modified bidirectional-long short-term memory (LN-MBi-LSTM) model. This framework follows a methodical approach that includes stages for feature extraction, brain activity recognition and preprocessing. Firstly, the improved Weiner filtering (IWF) approach is used to preprocess the EEG input signal. The relevant features are then extracted using a feature extraction technique from the preprocessed EEG signal. To identify the brain activity, these recovered feature sets are subsequently processed separately using LinkNet and modified bidirectional-long short-term memory (MBi-LSTM). A thorough analysis that takes into account both simulation and experimental calculations is part of the validation process for the LN-MBi-LSTM model. Finally, this study demonstrates the therapeutic potential of the LN-MBi-LSTM framework by presenting a strong and verified model for brain activity recognition. With the highest precision of 0.997, the LinkNet-MBi-LSTM model distinguishes itself from other models and confirms its exceptional capacity to produce accurate positive predictions.
Amelioration of propionic acid-induced autism-like behaviors in rats by fenofibrate: A focus on reduction of brain galectin-3 levels.
Erdogan MA, Akbulut MC, Altuntaş İ … +3 more , Tomruk C, Uyanıkgil Y, Erbaş O
Int J Dev Neurosci · 2024 Dec · PMID 39533526 · Publisher ↗
INTRODUCTION: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired social interactions and repetitive behaviors. This study examines the effects of fenofibrate on a propionic acid (PP...
INTRODUCTION: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired social interactions and repetitive behaviors. This study examines the effects of fenofibrate on a propionic acid (PPA)-induced rat model of ASD, focusing on behavioral changes, inflammatory markers, and histological findings. MATERIALS AND METHODS: Thirty male Wistar rats were divided into three groups: a control group, a group receiving PPA and saline, and a group treated with PPA and fenofibrate for 15 days. Behavioral assessments, including the three-chamber sociability test, open-field test, and passive avoidance learning, were conducted. Biochemical analyses measured TNF-α, NGF, IL-17, IL-2, and galectin-3 levels in brain tissues. Histological evaluations focused on Purkinje neuron counts in the cerebellum and neuronal changes in the CA1 and CA3 regions of the hippocampus, along with glial fibrillary acidic protein (GFAP) levels. RESULTS: Fenofibrate treatment significantly improved behavioral outcomes, reducing autism-like behaviors compared to the PPA/saline group. Biochemically, the PPA/saline group showed elevated levels of malondialdehyde, TNF-α, IL-2, IL-17, and galectin-3, which were reduced following fenofibrate treatment. Histologically, the PPA/saline group exhibited fewer, dysmorphic Purkinje neurons and increased glial activity in the CA1 region, both of which were ameliorated by fenofibrate treatment. CONCLUSION: Fenofibrate shows promise in mitigating autism-like behaviors in a rat model of ASD, likely due to its antioxidative and neuroprotective properties, which contribute to preserving neuronal integrity and reducing inflammation.
Therapeutic effects of pentoxifylline in propionic acid-induced autism symptoms in rat models: A behavioral, biochemical, and histopathological study.
Erdoğan MA, Tunç KC, Daştan Aİ … +3 more , Tomruk C, Uyanıkgil Y, Erbaş O
Int J Dev Neurosci · 2024 Dec · PMID 39520226 · Publisher ↗
OBJECTIVE: The role of propionic acid (PPA) in eliciting behaviors analogous to autism in rat models is a documented phenomenon. This study examines the therapeutic implications of pentoxifylline-an agent traditionally u...
OBJECTIVE: The role of propionic acid (PPA) in eliciting behaviors analogous to autism in rat models is a documented phenomenon. This study examines the therapeutic implications of pentoxifylline-an agent traditionally used for peripheral vascular diseases-on these autism-like behaviors by modulating brain proteins and reducing pro-inflammatory cytokines like tumor necrosis factor-α (TNF-α) in a rat model. METHODS: This research involved 30 male Wistar albino rats, which were divided into three distinct groups: a baseline control set, a PPA-treated cluster receiving a 250 mg/kg/day dose of PPA via intraperitoneal injection for a span of five days followed by saline orally, and a PPA group administered an oral dose of pentoxifylline at 300 mg/kg/day over 15 days. Subsequent to the treatment phase, euthanasia was carried out for the extraction of brain and blood samples, which were then analyzed for histopathological and biochemical markers. RESULTS: The pentoxifylline-treated subjects demonstrated a significant mitigation in the manifestation of autistic-like behaviors, as assessed through a triad of social interaction tests. A noteworthy decline in TNF-α levels was observed, alongside a significant rise in the concentration of adenosine triphosphate and nerve growth factor in brain tissue (p < 0.05). Histopathological analysis underscored a reduction in oxidative stress and a significant preservation of neuronal cell types, specifically pyramidal neurons in the hippocampal CA1 and CA3 regions and Purkinje cells in the cerebellum (p < 0.001). CONCLUSION: Pentoxifylline treatment has been found to effectively reduce the behavioral symptoms associated with autism, as well as biochemical and histopathological disruptions induced by PPA in rat models, highlighting its potential as a neurotherapeutic agent.
Exposure to Sunset Yellow FCF since post-weaning causes hippocampal structural changes and memory impairment in the adult rat: The neuroprotective effects of Coenzyme Q10.
Mousavi SR, Shadravanan M, Farrokhi MR … +4 more , Karimi F, Karbalaei N, Zadeh MA, Naseh M
Int J Dev Neurosci · 2024 Dec · PMID 39520069 · Publisher ↗
BACKGROUND: This study aimed to investigate whether exposure to Sunset Yellow FCF (SY) since post-weaning can lead to hippocampal structural changes and memory impairment in adult rat and whether the Coenzyme Q10 (CoQ10)...
BACKGROUND: This study aimed to investigate whether exposure to Sunset Yellow FCF (SY) since post-weaning can lead to hippocampal structural changes and memory impairment in adult rat and whether the Coenzyme Q10 (CoQ10) can protect against these adverse effects. METHODS: The weanling rats were randomly divided into six groups and were treated daily by oral gavage for 6 weeks, as follows: (I) control group, administered distilled water (0.3 mL/100 g/day); (II) CoQ10 group, received 10 mg/kg/day CoQ10; (III) low SY group, received 2.5 mg/kg/day SY; (IV) high SY group, received 70 mg/kg/day SY; (V) low SY + CoQ10 group; and (VI) high SY + CoQ10 group. At the end of the sixth week, the novel object recognition (NOR) test was conducted to evaluate memory. Then, after sacrificing animals, the cerebral hemispheres were removed for stereological study and evaluation of MDA levels. RESULTS: The low and high doses of SY led to significant neuronal loss and a decrease in the volume of the hippocampus (CA1 and DG subregions), as well as increased the MDA level, which was associated with short- and long-term memory impairment. Although, administration of CoQ10 prevented the hippocampal neural loss and volume, and caused a reduction in MDA and improved memory in the low and high SY groups. CONCLUSION: It seems that CoQ10 could prevent the neuronal loss and hippocampal atrophy caused by post-weaning exposure to SY through preventing oxidative stress, ultimately improving memory impairment in rats.
GABA in early brain development: A dual role review.
Ji X, Liu S, Li S … +4 more , Li X, Luo A, Zhang X, Zhao Y
Int J Dev Neurosci · 2024 Dec · PMID 39503050 · Publisher ↗
This comprehensive review examines the multifaceted roles of gamma-aminobutyric acid (GABA) in early brain development. GABA, traditionally recognized for its inhibitory functions in the mature brain, also exhibits excit...
This comprehensive review examines the multifaceted roles of gamma-aminobutyric acid (GABA) in early brain development. GABA, traditionally recognized for its inhibitory functions in the mature brain, also exhibits excitatory effects during early neural development. This article explores the mechanisms behind GABA's dual roles, detailing its impact on the properties of the immature brain, the mechanisms of GABA-mediated excitation, the role of GABA-mediated presynaptic inhibition, the trophic actions of GABA during early development, GABA regulation of neurite growth and GABA-mediated cell differentiation in the immature brain. Emphasizing recent research findings, the review highlights the significance of GABAergic signalling in shaping the developing brain and its potential implications for understanding neurodevelopmental disorders.
A novel MAOA gene variant: Brunner syndrome, a rare syndrome, is associated with a wide range of psychiatric symptoms.
Ünsel-Bolat G, Turan S, Bolat H
Int J Dev Neurosci · 2024 Dec · PMID 39450862 · Publisher ↗
Brunner syndrome is a rare genetic disorder that associated with mutations in the MAOA gene. It has been linked to a number of psychiatric disorders. We present detailed information on psychiatric evaluation of a case ca...
Brunner syndrome is a rare genetic disorder that associated with mutations in the MAOA gene. It has been linked to a number of psychiatric disorders. We present detailed information on psychiatric evaluation of a case carrying a novel MAOA gene variant of p.(Thr408Met). The patient was referred to our clinic with a history of attention problems, motor coordination difficulties and a tendency to bite objects. Following a comprehensive psychiatric evaluation, the patient was diagnosed with developmental coordination disorder, articulation disorder and attention deficit hyperactivity disorder (ADHD). MAOA mutations are rarely reported in the literature. To date, a total of 23 MAOA gene variants, mostly missense variants, have been reported through the HGMD database (Professional 2023.4). Neurodevelopmental symptoms may vary in severity and diversity among patients with Brunner syndrome. Different degrees of intellectual disability have been found in previously reviewed cohorts of Brunner syndrome. In our affected patient, cognitive development and academic achievement were at a similar level to his peers. Additionally, our patient exhibited symptoms suggestive of developmental coordination disorder. Our findings show that genetic mutations in MAOA can lead to a wide range of clinical symptoms and underline the need for comprehensive genetic and clinical evaluations.
Role of hsa-miR-543-KIF5C/CALM3 pathway in neuron differentiation of embryonic mesenchymal stem cells.
An D, Wang Y, Wang X
Int J Dev Neurosci · 2024 Dec · PMID 39444227 · Publisher ↗
BACKGROUND: Human umbilical cord mesenchymal stem cells (hUC-MSCs) have the ability to differentiate into nerve cells, which offers promising options for treating neurodegenerative diseases. AIM: To explore the important...
BACKGROUND: Human umbilical cord mesenchymal stem cells (hUC-MSCs) have the ability to differentiate into nerve cells, which offers promising options for treating neurodegenerative diseases. AIM: To explore the important regulatory molecules of hUC-MSCs differentiation into neurons. METHOD: In this research, the neural differentiation of hUC-MSCs was induced by a low-serum DMSO/BHA/DMEM medium. The GEO database was used to retrieve the relevant datasets. The starBase and miEAA databases were used for bioinformatics analysis. RT-qPCR was used to detect the hsa-miR-543 level and the mRNA levels of NSE, NeuN, NF-M, KIF5C, and CALM3. The protein levels of KIF5C and CALM3 were checked by western blotting. RESULTS: The expression levels of NSE, NeuN, NF-M, KIF5C, and CALM3 were elevated, while hsa-miR-543 was under-expressed in neuro-induced hUC-MSCs. The increase in NSE, NeuN, and NF-M mRNA levels induced by DMSO/BHA/DMEM was partially reversed by the knockdown of KIF5C and CALM3 in hUC-MSCs. Moreover, the transfection of hsa-miR-543 mimic partially countered the DMSO/BHA/DMEM-induced elevation in NSE, NeuN, NF-M, KIF5C, and CALM3 mRNA levels. CONCLUSION: KIF5C and CALM3 facilitated the neuronal differentiation of hUC-MSCs, whereas hsa-miR-543 exerted an opposing effect by negatively regulating KIF5C and CALM3.
Cohen syndrome: Can early-onset recurrent infections and hypotonia provide early diagnosis and intervention for intellectual disability?
Ünsel-Bolat G, Keskin-Çelebi E, Bolat H
Int J Dev Neurosci · 2024 Dec · PMID 39397257 · Publisher ↗
INTRODUCTION: Cohen syndrome is a rare disease associated with neurodevelopmental disorders, especially intellectual disability (ID), neutropenia and recurrent infections are consistently reported in cases. Neutropenia i...
INTRODUCTION: Cohen syndrome is a rare disease associated with neurodevelopmental disorders, especially intellectual disability (ID), neutropenia and recurrent infections are consistently reported in cases. Neutropenia is an important part of the syndrome, as well as ID. Homozygous variants in the VPS13B gene, located on chromosome 8q22 and containing 62 exons, have been found to cause Cohen syndrome. Cohen syndrome is commonly diagnosed when dysmorphological findings and developmental delay become more apparent. However, the identification of some findings with increasing age has caused the diagnosis of Cohen syndrome to be delayed. METHODS: Cases diagnosed with ID were evaluated using whole-exome sequencing/clinical exome sequencing method. Family segregation analysis was performed using Sanger sequencing. We presented the clinical and genetic findings of three cases diagnosed with Cohen syndrome and their parents in detail. RESULTS: In this study, we presented the occurrence of symptoms in different age groups, and the prognosis of three cases carrying the VPS13B gene variants, including three different variant types: missense, frameshift and nonsense. Although our cases had different variant types, they shared important similarities on the onset period and prognosis of the symptoms. All cases presented hypotonia, difficulties in swallowing, recurrent respiratory tract infections, neutropenia, delay in motor development, ID and hyperactivity. Our cases did not have a diagnosis of autism spectrum disorder. All cases had increased willingness to engage in social communication. CONCLUSION: We emphasize the importance of early-onset recurrent infections and hypotonia for early diagnosis and preventive genetic counselling in Cohen syndrome.
A review article on the development of dopaminergic neurons and establishment of dopaminergic neuron-based in vitro models by using immortal cell lines or stem cells to study and treat Parkinson's disease.
Göksu AY
Int J Dev Neurosci · 2024 Dec · PMID 39379284 · Publisher ↗
The primary pathological hallmark of Parkinson's disease (PD) is the degeneration of dopaminergic (DA) neurons in the substantia nigra pars compacta, a critical midbrain region. In vitro models based on DA neurons provid...
The primary pathological hallmark of Parkinson's disease (PD) is the degeneration of dopaminergic (DA) neurons in the substantia nigra pars compacta, a critical midbrain region. In vitro models based on DA neurons provide a powerful platform for investigating the cellular and molecular mechanisms of PD and testing novel therapeutic strategies. A deep understanding of DA neuron development, including the signalling pathways and transcription factors involved, is essential for advancing PD research. This article first explores the differentiation and maturation processes of DA neurons in the midbrain, detailing the relevant signalling pathways. It then compares various in vitro models, including primary cells, immortalized cell lines, and stem cell-based models, focusing on the advantages and limitations of each. Special attention is given to the role of immortalized and stem cell models in PD research. This review aims to guide researchers in selecting the most appropriate model for their specific research goals. Ethical considerations and clinical implications of using stem cells in PD research are also discussed.
Evaluating the potential effects of apigenin on memory, anxiety, and social interaction amelioration after social isolation stress.
Mohammadkhanizadeh A, Hosseini Y, Nikbakht F … +2 more , Parvizi M, Khodabandehloo F
Int J Dev Neurosci · 2024 Dec · PMID 39367711 · Publisher ↗
Vigorous research confirmed the anti-inflammatory, antioxidant, and antidementia effects of apigenin (Api). The present study evaluated the beneficial impacts of Api administration on behaviour, brain-derived neurotrophi...
Vigorous research confirmed the anti-inflammatory, antioxidant, and antidementia effects of apigenin (Api). The present study evaluated the beneficial impacts of Api administration on behaviour, brain-derived neurotrophic factor (BDNF), Interleukin 6 (IL-6), oxidative stress, and inflammation induced by social isolation (SI) stress in rats. For this purpose, rats underwent a 28-day SI period followed by a 4-week oral Api treatment (50 mg/kg/day, PO). On Day 56, behaviour tests were performed, including an elevated plus maze (EPM), Morris water maze (MWM), and three-chamber social tests. The oxidative stress markers, IL-6, and BDNF levels were measured in the hippocampus. Our results showed that SI stress caused an increase in anxiety and a decrease in spatial memory, sociability, and social preference index. In addition, SI stress increased hippocampal levels of IL-6 and malondialdehyde (MDA) content, whereas it reduced the hippocampal BDNF level and superoxide dismutase (SOD) activities. Our study indicated that Api attenuates anxiety and causes improvements in spatial memory and social interaction. These desirable effects of Api might be related to amelioration in the BDNF level, IL-6, and oxidative stress biomarkers in the hippocampus.
Seizure recurrence following the first unprovoked seizure: Risk factors among children in UAE.
Saleh DA, Hassan A
Int J Dev Neurosci · 2024 Dec · PMID 39364606 · Publisher ↗
In a retrospective study of paediatric and adolescent patients in Abu Dhabi, UAE, who experienced their first unprovoked seizure between March 2016 and March 2020, with a minimum one-year follow-up, we identified signifi...
In a retrospective study of paediatric and adolescent patients in Abu Dhabi, UAE, who experienced their first unprovoked seizure between March 2016 and March 2020, with a minimum one-year follow-up, we identified significant risk factors associated with seizure recurrence. Among 317 patients, 96.2% experienced seizure recurrence, with the majority (68.8%) occurring within the first 6-month follow-up period. Notable risk factors for recurrence included focal seizures, symptomatic seizure causes, abnormal initial electroencephalogram (EEG) findings, abnormal brain magnetic resonance imaging results, and the presence of neurological disorders. Interestingly, the type of epileptiform activity in the initial EEG did not predict recurrence risk. Over a 3-year period, the overall recurrence risk was 98.4%, particularly higher in cases with symptomatic seizures compared to idiopathic (genetic) ones. These findings underscore the importance of vigilant monitoring, particularly in the early post-seizure follow-up period, and advocate for initial EEG assessments, especially in cases of remote symptomatic first unprovoked seizures.
Prenatal and postnatal cocaine exposure enhances the anxiety- and depressive-like behaviors in rats: An ontogenetic study.
Méndez SB, Salazar-Juárez A
Int J Dev Neurosci · 2024 Oct · PMID 39361328 · Publisher ↗
BACKGROUND: Prenatal and postnatal exposure to drugs such as cocaine is a public health problem that causes deficits in brain development and function in humans and animals. One of the main effects of prenatal and postna...
BACKGROUND: Prenatal and postnatal exposure to drugs such as cocaine is a public health problem that causes deficits in brain development and function in humans and animals. One of the main effects of prenatal and postnatal cocaine exposure is increased vulnerability to developing the substance use disorder at an early age. Furthermore, the negative emotional states associated with cocaine withdrawal increase the fragility of patients to relapse into drug abuse. In this sense, prenatal and postnatal cocaine exposure enhanced the cocaine- and nicotine-induced locomotor activity and locomotor sensitization, and rats exposed prenatally to cocaine displayed an increase in anxiety- and depressive-like behaviors in adulthood (PND 60-70). OBJECTIVE: Therefore, the objective of this study was to determine the effect of prenatal and postnatal cocaine exposure on anxiety- and depressive-like behaviors at different ages (30, 60, 90, and 120 days of age) in rats. METHODS: The study was divided into two stages: prenatal and postnatal. In the prenatal stage, a group of pregnant female Wistar rats was administered daily from GD0 to GD21 cocaine (cocaine pre-exposure group), and another group of pregnant female rats was administered daily saline (saline pre-exposure group). In the postnatal stage, during lactation (PND0 to PND21), pregnant rats received administration of cocaine or saline, respectively. Of the litters resulting from the cocaine pre-exposed and saline pre-exposed pregnant female groups, only the male rats were used for the recording of the anxiety- and depressive-like behaviors at different postnatal ages (30, 60, 90, and 120 days), representative of adolescence, adult, adulthood, and old age. RESULTS: The study found that prenatal and postnatal cocaine exposure generated age-dependent enhancement in anxiety- and depressive-like behaviors, being greater in older adult (PND 120) rats than in adolescent (PND 30) or adults (PND 60-90) rats. CONCLUSIONS: This suggests that prenatal and postnatal cocaine exposure increases anxiety- and depressive-like behaviors, which may increase the vulnerability of subjects to different types of drugs in young and adult age.
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