International Journal of Developmental Neuroscience最新文献

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Identification of a Novel ATP7A Variant in a Chinese Boy With Developmental Delay and Epilepsy 一种新的ATP7A变异在中国发育迟缓和癫痫男孩中的鉴定。
IF 1.7 4区 医学
International Journal of Developmental Neuroscience Pub Date : 2025-01-30 DOI: 10.1002/jdn.70001
Yun Zhou, Junhua Wu, Jian Xu, Youquan Tu, Minghai Huang, Chunyan Fang
{"title":"Identification of a Novel ATP7A Variant in a Chinese Boy With Developmental Delay and Epilepsy","authors":"Yun Zhou,&nbsp;Junhua Wu,&nbsp;Jian Xu,&nbsp;Youquan Tu,&nbsp;Minghai Huang,&nbsp;Chunyan Fang","doi":"10.1002/jdn.70001","DOIUrl":"10.1002/jdn.70001","url":null,"abstract":"<div>\u0000 \u0000 <p>Menkes disease (MD) is a rare X-linked recessive syndrome that is caused by mutations in the <i>ATP7A</i> gene, which encodes the P-type ATP enzyme. The <i>ATP7A</i> gene encodes 1500 amino acids and is expressed in a number of organs, including the brain, muscles, kidneys and lungs. ATP7A transports copper between cell membranes using energy generated by ATP hydrolysis. Patients with the pathogenic variant in the <i>ATP7A</i> gene exhibit a distinctive pattern of severe neurodegeneration, which is often accompanied by specific alterations in hair morphology. The clinical manifestations of MD have been attributed to the dysfunction of copper-dependent enzymes. Here, we report a 7-month-old boy with MD associated with a novel variant of <i>ATP7A</i> (c.1965_1973del, p.Val656_Leu658del). Genetic testing revealed that both his mother and grandmother had identical <i>ATP7A</i> mutations, and we studied this family to better understand the natural history of this syndrome. In this article, we report for the first time the novel mutation in the <i>ATP7A</i> gene in a Chinese family. In our case, he suffers from simian line, developmental delay, epilepsy, hair changes (short, thin, thick, twisted, often light-coloured), decreased muscle tone, joint relaxation, brain vessel distortion, low serum copper, ceruloplasmin, elevated lactate and an abnormal EEG. Because of its rarity, MD is easily to be misdiagnosed.</p>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143065473","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Knowledge, Behaviours, and Attitudes of Family Physicians and Residents About Autism Spectrum Disorder in Turkey: A Descriptive Cross-Sectional Study 土耳其家庭医生和住院医生对自闭症谱系障碍的知识、行为和态度:一项描述性横断面研究。
IF 1.7 4区 医学
International Journal of Developmental Neuroscience Pub Date : 2025-01-30 DOI: 10.1002/jdn.70003
Fatmanur Erzurumluoğlu, Raziye Şule Gümüştakım, Celal Kuş, Semiha Cömertoğlu Arslan
{"title":"Knowledge, Behaviours, and Attitudes of Family Physicians and Residents About Autism Spectrum Disorder in Turkey: A Descriptive Cross-Sectional Study","authors":"Fatmanur Erzurumluoğlu,&nbsp;Raziye Şule Gümüştakım,&nbsp;Celal Kuş,&nbsp;Semiha Cömertoğlu Arslan","doi":"10.1002/jdn.70003","DOIUrl":"10.1002/jdn.70003","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>Autism Spectrum Disorder (ASD) is a growing social health issue. Primary healthcare institutions are where children most commonly seek help, and family physicians in primary care play a crucial role in early ASD detection. This study aims to assess the knowledge level, behaviours, and attitudes of family physicians and family medicine residents across Turkey, identify factors affecting their knowledge, and raise awareness among physicians.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Subject and Methods</h3>\u0000 \u0000 <p>This descriptive cross-sectional study was conducted between March and June 2022, with the participation of family medicine specialists, residents, and practicing physicians in Turkey. A 50-question survey was administered face-to-face and digitally. The survey comprised 31 questions on sociodemographic information, factors influencing knowledge, attitudes and behaviours about ASD. The second part included a 19-question “Knowledge about childhood autism among health workers” (KCAHW) questionnaire.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The study included 392 physicians with a mean age of 32.8 ± 7.9; 60.7% were women. Among the participants, 50.3% were family medicine residents, 21.7% were family medicine specialists, 17.0% were family physicians and 11.0% were contracted family medicine residents. The physicians' mean KCAHW score was 14.1 ± 2.6. Screening for ASD and following ASD were significantly associated with the perception of knowledge level (<i>p</i> = 0.004; <i>p</i> = 0.028, respectively). A statistically significant relationship was found between paediatric rotation, education about ASD, patient follow-ups and the KCAHW scores. Moreover, 98.2% of physicians believed children with ASD should receive special education, while 79.6% thought ASD carried a social stigma, and 52% believed an ASD diagnosis could lead to discrimination.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The study found that participants lacked knowledge about comorbidities with ASD, atypical presentations of ASD, and guiding individuals with ASD. However, having a paediatric rotation, receiving ASD training and following up on children with ASD were associated with increased knowledge levels. Screening for and following up on children with ASD also boosted physicians' self-confidence.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143065476","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Virtual Reality-Based Attention Prediction Model in Gaming for Autistic Children 基于虚拟现实的自闭症儿童游戏注意力预测模型。
IF 1.7 4区 医学
International Journal of Developmental Neuroscience Pub Date : 2025-01-28 DOI: 10.1002/jdn.70000
Valarmathi P, Packialatha A
{"title":"Virtual Reality-Based Attention Prediction Model in Gaming for Autistic Children","authors":"Valarmathi P,&nbsp;Packialatha A","doi":"10.1002/jdn.70000","DOIUrl":"10.1002/jdn.70000","url":null,"abstract":"<div>\u0000 \u0000 <p>Nowadays, virtual reality (VR) has emerged as a successful new therapeutic strategy in a variety of sectors of the health profession, including rehabilitation, the promotion of inpatients' emotional wellness, diagnostics, surgeon training and mental health therapy. This study develops a new model VRAPMG for children with ASD with the following steps that consider 3D gaming. In this work, the face image is considered to evaluate the attention of the children. In the data acquisition, the input face image is converted into a noncoloured image called a greyscale image. The preprocessing phase is carried out with a median filter and Viola–Jones (VJ) algorithm–based face detection is carried out. Then, the improved active shape model (ASM), shape local binary texture (SLBT) and eye position localization–based features are extracted. In the detection phase, DMO and Bi-GRU models are combined to form the hybrid classification model. Then, improved SLF is done, and the output is detected. Depending on the detected emotions, it is determined whether the children are attentive or not via entropy-based attention prediction.</p>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143052417","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Hydrocortisone Attenuates the Development of Malformations of the Polymicrogyria Spectrum 氢化可的松可减轻多胚层畸形的发展。
IF 1.7 4区 医学
International Journal of Developmental Neuroscience Pub Date : 2025-01-28 DOI: 10.1002/jdn.10414
Laura Maria Borges Savoldi, Luiza dos Santos Heringer, Milena Batista Carneiro, Ana Maria Blanco Martinez, Henrique Rocha Mendonça
{"title":"Hydrocortisone Attenuates the Development of Malformations of the Polymicrogyria Spectrum","authors":"Laura Maria Borges Savoldi,&nbsp;Luiza dos Santos Heringer,&nbsp;Milena Batista Carneiro,&nbsp;Ana Maria Blanco Martinez,&nbsp;Henrique Rocha Mendonça","doi":"10.1002/jdn.10414","DOIUrl":"10.1002/jdn.10414","url":null,"abstract":"<div>\u0000 \u0000 <p>Most of the malformations of the polymicrogyria spectrum are caused by destructive lesions of the neocortex during the third trimester of pregnancy, triggered by hypoxic–ischemic, hemorrhagic or infectious events, with neuroinflammation as a common pathophysiological mechanism. Our study investigated hydrocortisone treatment in attenuating inflammation, malformations development and seizures predisposition in mice subjected to neonatal transcranial freeze lesion. Our results show attenuation of malformation and predisposition to febrile seizures, with concomitant reduction of macrophages/microglia after neonatal freeze lesion, polarizing them towards an anti-inflammatory profile. Thus, we have identified a promising treatment to minimize the development of cortical developmental malformations.</p>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143052412","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Edaravone Mitigates Hippocampal Neuronal Death and Cognitive Dysfunction by Upregulating BDNF Expression in Neonatal Hypoxic–Ischemic Rats 依达拉奉通过上调新生儿缺氧缺血性大鼠BDNF表达减轻海马神经元死亡和认知功能障碍。
IF 1.7 4区 医学
International Journal of Developmental Neuroscience Pub Date : 2025-01-20 DOI: 10.1002/jdn.10413
Rui Zhang, Yongkai Yang, Yijun Lin
{"title":"Edaravone Mitigates Hippocampal Neuronal Death and Cognitive Dysfunction by Upregulating BDNF Expression in Neonatal Hypoxic–Ischemic Rats","authors":"Rui Zhang,&nbsp;Yongkai Yang,&nbsp;Yijun Lin","doi":"10.1002/jdn.10413","DOIUrl":"10.1002/jdn.10413","url":null,"abstract":"<div>\u0000 \u0000 <p>Neonatal hypoxic–ischemic encephalopathy (HIE) is a severe neurological injury during infancy, often resulting in long-term cognitive deficits. This study aimed to investigate the neuroprotective effects of Edaravone (EDA), a free radical scavenger, and elucidate the potential role of brain-derived neurotrophic factor (BDNF) in mediating these effects in neonatal HIE rats. Using the Rice-Vannucci model, HIE was induced in neonatal rats, followed by immediate administration of EDA after the hypoxic–ischemic insult. To examine the role of BDNF, a separate group of rats received intrahippocampal injections of a lentiviral vector for BDNF knockdown prior to the induction of HIE and subsequent EDA treatment. Neuronal survival and apoptosis in the hippocampal region were assessed by immunofluorescence and TUNEL staining, respectively. BDNF expression levels in the hippocampus were analysed using enzyme-linked immunosorbent assay (ELISA). Cognitive function was evaluated using the Morris water maze (MWM) and Y maze tests. Results demonstrated that EDA significantly reduced hippocampal neuronal apoptosis and death, increased neuronal survival, and enhanced BDNF expression compared to the control group. However, the therapeutic effects of EDA were mitigated in the BDNF knockdown group, indicating a crucial role of BDNF in mediating the neuroprotective effects of EDA. Behavioural testing confirmed that EDA treatment significantly improved spatial learning and memory abilities in HIE rats, but these improvements were not observed in rats with BDNF knockdown. In conclusion, our study suggests that EDA treatment mitigates hippocampal neuronal death and improves cognitive dysfunction in HIE rats primarily by upregulating BDNF expression. These findings provide experimental support for the potential application of EDA in the treatment of HIE and highlight the essential role of BDNF in neuroprotection and cognitive recovery post-HIE.</p>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143004912","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Correction to ‘Pineal Gland Volume in Children With Intellectual Disability’ 对“智力残疾儿童的松果体体积”的修正。
IF 1.7 4区 医学
International Journal of Developmental Neuroscience Pub Date : 2025-01-13 DOI: 10.1002/jdn.10408
{"title":"Correction to ‘Pineal Gland Volume in Children With Intellectual Disability’","authors":"","doi":"10.1002/jdn.10408","DOIUrl":"10.1002/jdn.10408","url":null,"abstract":"<p>\u0000 <span>Gürbüz, A. A.</span>, <span>Altun, H.</span>, <span>Tahiroğlu, A. Y.</span>, <span>Mert, G. G.</span>, <span>Kızıldağ, B.</span>, &amp; <span>Arslan, S. C.</span> (<span>2024</span>). <span>Pineal Gland Volume in Children With Intellectual Disability</span>. <i>International Journal of Developmental Neuroscience</i>, <span>84</span>(<span>8</span>), <span>963</span>–<span>971</span>. https://doi.org/10.1002/jdn.10389.\u0000 </p><p>In the Conclusion section of the abstract, the phrase ‘autism spectrum disorder’ is incorrect. This should have read: ‘ID’ for the abbreviation ‘intellectual disability’.</p><p>We would like to highlight that this was an unintentional typographical error, and the correct term should be ‘intellectual disability’.</p><p>We apologise for this error.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jdn.10408","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142970554","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Calcium-Binding Proteins in the Autistic Brain—Potential Links to Symptom Development 自闭症大脑中的钙结合蛋白与症状发展的潜在联系。
IF 1.7 4区 医学
International Journal of Developmental Neuroscience Pub Date : 2025-01-07 DOI: 10.1002/jdn.10412
Élyssa Adriolly Freitas Tavares, Débora Lopes Silva de Souza, Francisca Tayná da Silva Gomes, Maria Vanessa Freitas Holanda, Rodrigo Freire Oliveira, Karina Maia Paiva, Paulo Leonardo Araujo de Gois Morais, Cláudio Lopes de Vasconcelos, Diogo Manuel Lopes de Paiva Cavalcanti, José Rodolfo Lopes de Paiva Cavalcanti
{"title":"Calcium-Binding Proteins in the Autistic Brain—Potential Links to Symptom Development","authors":"Élyssa Adriolly Freitas Tavares,&nbsp;Débora Lopes Silva de Souza,&nbsp;Francisca Tayná da Silva Gomes,&nbsp;Maria Vanessa Freitas Holanda,&nbsp;Rodrigo Freire Oliveira,&nbsp;Karina Maia Paiva,&nbsp;Paulo Leonardo Araujo de Gois Morais,&nbsp;Cláudio Lopes de Vasconcelos,&nbsp;Diogo Manuel Lopes de Paiva Cavalcanti,&nbsp;José Rodolfo Lopes de Paiva Cavalcanti","doi":"10.1002/jdn.10412","DOIUrl":"10.1002/jdn.10412","url":null,"abstract":"<div>\u0000 \u0000 <p>Autism spectrum disorder (ASD) is a complex challenge, influenced by genetic and environmental factors. This review focuses on the proteins calbindin (CB), calretinin (CR) and parvalbumin (PV) in the context of ASD, exploring their clinical correlations and providing a deeper understanding of the spectrum. In addition, we seek to understand the role of these proteins in GABAergic regulation and their implication in the pathophysiology of ASD. The studies reviewed revealed a significant decrease in PV+ interneurons in the prefrontal cortex of individuals with ASD compared with typical controls. This reduction is associated with local synaptic hyperconnectivity, characterized by an increase in the number of excitatory synapses and a reduction in inhibitory synapses. A correlation was also observed between the decrease in PV+ and the severity of the behavioural symptoms of ASD. The research highlights GABAergic imbalance as a crucial component in the neuropathology of ASD, highlighting the role of calcium-binding proteins, especially PV, in regulating neuronal excitability and modulating synaptic connectivity. These findings provide valuable insights for the development of new therapeutic strategies intended to modulate neuronal activity and improve the symptoms associated with ASD.</p>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142948337","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Knowledge, Attitudes and Willingness of Caregivers of Preterm Infants Toward Autism: A Cross-Sectional Study 早产儿照顾者对自闭症的认识、态度和意愿:一项横断面研究。
IF 1.7 4区 医学
International Journal of Developmental Neuroscience Pub Date : 2025-01-06 DOI: 10.1002/jdn.10411
Dan Ma, Hong Luo, Yanhong Wang, Wei Zhou, Yongguang Lu, Binhao Lv, Li Zhang, Yimin Hua
{"title":"Knowledge, Attitudes and Willingness of Caregivers of Preterm Infants Toward Autism: A Cross-Sectional Study","authors":"Dan Ma,&nbsp;Hong Luo,&nbsp;Yanhong Wang,&nbsp;Wei Zhou,&nbsp;Yongguang Lu,&nbsp;Binhao Lv,&nbsp;Li Zhang,&nbsp;Yimin Hua","doi":"10.1002/jdn.10411","DOIUrl":"10.1002/jdn.10411","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>To examine the knowledge, attitudes and willingness of caregivers of preterm infants toward autism spectrum disorder (ASD).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This cross-sectional study was conducted from September to December 2022 at the Hospital and enrolled the caregivers of preterm infants. The final questionnaire, developed by the authors, included four dimensions: demographic data, knowledge (16 items), attitudes (10 items) and willingness (seven items).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>This study included 702 participants (77.21% females). The average knowledge, attitude and willingness scores were 7.75 ± 3.47 (total: 16), 38.54 ± 4.38 (total: 50) and 31.38 ± 3.95 (total: 35), respectively. Female (OR = 1.945, 95% CI: 1.182–2.797, <i>p</i> = 0.003), college or bachelor's (OR = 4.429, 95% CI: 1.525–9.788, <i>p</i> = 0.006), master or above (OR = 3.864, 95% CI: 1.194–12.500, <i>p</i> = 0.024) and stable work (OR = 2.098, 95% CI: 1.421–3.098, <i>p</i> &lt; 0.001) were independently associated with sufficient knowledge. Age 30–34 (OR = 0.639, 95% CI: 0.423–0.695, <i>p</i> = 0.033), age ≥ 35 (OR = 0.517, 95% CI: 0.334–0.802, <i>p</i> = 0.003) and urban residency (OR = 1.697, 95% CI: 1.118–2.576, <i>p</i> = 0.013) were independently associated with favourable attitudes. The knowledge scores (OR = 1.100, 95% CI: 1.041–1.162, <i>p</i> = 0.001), attitude scores (OR = 1.212, 95% CI: 1.158–1.690, <i>p</i> &lt; 0.001) and a monthly income of 10,000–20,000 RMB (OR = 2.125, 95% CI: 1.208–3.736, <i>p</i> = 0.009) were independently associated with the positive willingness.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This study observed poor knowledge but favourable attitudes and willingness toward ASD among caregivers of preterm infants. More attention should be paid to the education of caregivers to improve the knowledge of autism in the families of premature infants.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142931618","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
H19/miR-484 axis serves as a candidate biomarker correlated with autism spectrum disorder H19/miR-484轴作为与自闭症谱系障碍相关的候选生物标志物。
IF 1.7 4区 医学
International Journal of Developmental Neuroscience Pub Date : 2025-01-03 DOI: 10.1002/jdn.10403
Yancai Li, Chunlong Liu, Qianqi Jin, Haizhen Yu, Huaijin Long
{"title":"H19/miR-484 axis serves as a candidate biomarker correlated with autism spectrum disorder","authors":"Yancai Li,&nbsp;Chunlong Liu,&nbsp;Qianqi Jin,&nbsp;Haizhen Yu,&nbsp;Huaijin Long","doi":"10.1002/jdn.10403","DOIUrl":"10.1002/jdn.10403","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Autism spectrum disorder (ASD) appears to be a common neurological developmental deficit disorder in pediatric patients, resulting in a tremendous burden on society.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Purpose</h3>\u0000 \u0000 <p>The article aimed to explore early diagnostic markers for ASD.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Levels of long non-coding RNA (lncRNA) H19 and microRNA-484 (miR-484) were detected using fluorescence quantitative polymerase chain reaction (PCR). The Spearman method was applied for the correlation analysis with ASD severity. To evaluate the role of H19 and miR-484 role in ASD diagnosis, the receiver operator characteristic (ROC) curve was plotted. Luciferase reporter assay was used to confirm the targeting relationship between H19 and miR-484. The functions and pathways related to miR-484 target genes were annotated by Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Elevated H19 levels were detected in ASD patients, which was positively correlated with disease severity. MiR-484 showed a decreasing trend in ASD patients, while it was negatively related to disease severity. Both H19 and miR-484 can distinguish ASD cases from controls with an AUC of 0.878 and 0.868, respectively. Luciferase reporter assay determined the target relationship between H19 and miR-484., and their combination showed the highest diagnostic value for ASD (AUC = 0.906). GO and KEGG analysis demonstrated the targeted genes of miR-484 were related to the development of ASD, and EIF4G2 and SMARCA2 were the main core genes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>H19 and miR-484 were dysregulated in ASD patients and were both associated with disease severity. The combined H19 and miR-484 represented a high diagnostic value for ASD.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142921641","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prenatal Methamphetamine Exposure Impairs Helping Behaviour in Male Offspring: The Possible Role of miR-223 and NLRP3 Inflammasomes in the Amygdala 产前甲基苯丙胺暴露会损害雄性后代的帮助行为:杏仁核中miR-223和NLRP3炎症小体的可能作用
IF 1.7 4区 医学
International Journal of Developmental Neuroscience Pub Date : 2024-12-26 DOI: 10.1002/jdn.10410
Fariba Khodagholi, Mitra Ansari Dezfouli, Neda Yazdanfar, Seyed Khalil Rashidi, Arman Zeinaddin Meymand, Pegah Javadpour, Seyed Hamidreza Mirbehbahani, Nayereh Zare
{"title":"Prenatal Methamphetamine Exposure Impairs Helping Behaviour in Male Offspring: The Possible Role of miR-223 and NLRP3 Inflammasomes in the Amygdala","authors":"Fariba Khodagholi,&nbsp;Mitra Ansari Dezfouli,&nbsp;Neda Yazdanfar,&nbsp;Seyed Khalil Rashidi,&nbsp;Arman Zeinaddin Meymand,&nbsp;Pegah Javadpour,&nbsp;Seyed Hamidreza Mirbehbahani,&nbsp;Nayereh Zare","doi":"10.1002/jdn.10410","DOIUrl":"10.1002/jdn.10410","url":null,"abstract":"<div>\u0000 \u0000 <p>The increasing prevalence of methamphetamine abuse among women, particularly pregnant females, is a global concern. Methamphetamine can readily cross anatomical barriers like the blood-placenta barrier and cause detrimental impacts on the growing fetus. The current research evaluated the effects of prenatal methamphetamine exposure on helping behaviour and neuroinflammatory cascade in the amygdala of male offspring. On the tenth day of pregnancy, female rats received either saline or methamphetamine (5 mg/kg) until delivery. Once the offspring reached 21 days of age, the male ones were sep arated from their mothers and housed with normal male rats. An empathy-like behaviour test, which measured helping behaviour towards the cage mate, was conducted. The expression levels of miR-223-3p, NLRP3, Caspase 1, and gasdermin D (GSDMD) were evaluated in the amygdala of male offspring. Moreover, interleukin-1β (IL-1β) protein level was measured. Findings of this study revealed that male offspring exposed to methamphetamine during pregnancy had impaired helping behaviour. At the molecular level, prenatal methamphetamine exposure decreased miR-223-3p and increased inflammasome signaling by raising the levels of NLRP3, caspase-1, and GSDMD along with IL-1β levels. These findings indicate that prenatal methamphetamine exposure impairs emotional behaviour and activates inflammasome pathway in the amygdala.</p>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2024-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142894270","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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