International Journal of Developmental Neuroscience最新文献

{"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}

{"title":"Mapping the Landscape of Autism Research: A Scientometric Review (2011–2023)","authors":"Pratibha Mahajan,&nbsp;Deven Patil,&nbsp;Nidhi Nair,&nbsp;Nishant Musmade,&nbsp;Preet Apte","doi":"10.1002/jdn.10406","DOIUrl":"10.1002/jdn.10406","url":null,"abstract":"<div>\u0000 \u0000 <p>This scientometric analysis maps the landscape of autism spectrum disorder (ASD) research between 2011 and 2023. By exploring patterns in publication growth, geographic distribution and institutional involvement, this study highlights evolving research themes, key contributors and collaborative networks. Our findings reveal a marked rise in ASD publications, particularly from 2020 onwards, with the United States, United Kingdom and China leading in contributions and collaborations. Scientometric analysis identifies a shift towards advanced machine learning techniques and neuroimaging in ASD studies, reflecting technological integration in research. Institutional analysis uncovers Vanderbilt University and Yale University as major contributors, with significant citation impacts across their publications. Furthermore, prominent funding sources, including the National Institutes of Health, underscore the critical role of funding in shaping research priorities. This comprehensive scientometric overview not only consolidates current knowledge but also serves as a resource to inform future research directions, enhancing interdisciplinary approaches to ASD understanding and intervention.</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":"142893947","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}

{"title":"Prenatal Exposure to Quercetin Protects Against Methimazole-Induced Reflexive Motor Behavior and Oxidative Stress Markers in Mouse Offspring","authors":"Sara Zahedi,&nbsp;Shahin Hassanpour,&nbsp;Seeyamak Mashhadyrafie","doi":"10.1002/jdn.10409","DOIUrl":"10.1002/jdn.10409","url":null,"abstract":"<div>\u0000 \u0000 <p>Quercetin is a natural flavonoid and one of the most powerful antioxidants. Due to its wide range of biological properties, it may improve cognitive and physical performance by affecting nervous tissue. The current study is aimed at determining the effect of prenatal exposure to quercetin against methimazole (MMI)-induced hypothyroidism on reflexive motor behavior in mouse offspring. In this study, 40 female mice were mated with 12 fertile male NMRI mice, and the pregnant mice were divided into four groups. Group 1 served as the control, Group 2 received 0.2% MMI in drinking water, Group 3 received 150 mg/kg quercetin via gavage, and Group 4 received both 0.2% MMI in drinking water and 150 mg/kg quercetin via gavage from Days 1 to 9 of gestation. The offspring were assessed for reflexive motor behaviors and conditioned fear. Catalase (CAT), malondialdehyde (MDA), superoxide dismutase (SOD), and glutathione peroxidase (GPx) levels in the neonates were also examined. The findings indicated that exposure to quercetin led to improved ambulation, hindlimb suspension, grip strength, front-limb suspension, hindlimb foot angle, negative geotaxis, surface righting, and conditioned fear behaviors in the offspring (<i>p</i> &lt; 0.05). Additionally, quercetin reduced levels of MDA and increased levels of SOD, GPx, and CAT in the brain tissue (<i>p</i> &lt; 0.05). These results suggested that quercetin exposure during pregnancy has positive effect on reflexive motor behaviors and antioxidant levels in mouse offspring.</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":"142894265","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}

{"title":"Lutein Exerts Antioxidant and Neuroprotective Role on Schizophrenia-Like Behaviours in Mice","authors":"Helia Aziziha,&nbsp;Shahin Hassanpour,&nbsp;Morteza Zendehdel","doi":"10.1002/jdn.10407","DOIUrl":"10.1002/jdn.10407","url":null,"abstract":"<div>\u0000 \u0000 <p>Schizophrenia is an esteemed neuropsychiatric condition delineated by the manifestation which role of the N-methyl-D-aspartate receptor (NMDAR) is important. Lutein administration exhibits protective effects via NMDA receptors. Thus, the main goal of this research was to investigate how lutein can possibly act as an antioxidant and provide protection for the brain against schizophrenia-like behaviours in mice. In total, 24 male mice were divided into four experimental groups: control, ketamine (20 mg/kg, i.p), lutein (10 mg/kg, i.p) and a mix of ketamine (20 mg/kg, i.p) and lutein (10 mg/kg, i.p). Lutein was given to the mice for 30 days, while ketamine was given from Days 16 to 30 to create a model of schizophrenia in the animals. After giving drugs, schizophrenia-like behaviours were evaluated with novel object recognition test (NORT), tail suspension test (TST), forced swimming test (FST) and open field tests. Furthermore, the amounts of brain malondialdehyde (MDA), glutathione peroxidase (GPx), superoxide dismutase (SOD) and catalase (CAT) were assessed. The findings showed a noteworthy decrease in the crossings during the open field test and increase in immobility duration in the TST and FST as a result of ketamine administration (<i>p</i> &lt; 0.05). Prior administration of lutein showed a decrease in the detrimental effects of ketamine on the open field assay, along with a reduction in immobility duration in the TST and FST experiments (<i>p</i> &lt; 0.05). Administration of ketamine caused a notable reduction in the discrimination index, while pretreatment with lutein was associated with a rise in the discrimination index (<i>p</i> &lt; 0.05). Furthermore, the administration of ketamine significantly increased the levels of MDA in both cortical and subcortical regions, which were then reduced by lutein pretreatment (<i>p</i> &lt; 0.05). Moreover, ketamine use led to a significant decrease in tissue SOD, GPx and CAT levels in both cortical and subcortical brain regions in mice (<i>p</i> &lt; 0.05). Nonetheless, lutein pretreatment significantly enhanced SOD, GPx and CAT levels in cortical and subcortical regions (<i>p</i> &lt; 0.05). These results indicate that lutein may have protective effects on the brain to improve behavioural problems.</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":"142893944","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}

{"title":"Folinic acid as a treatment for autism in children: A within-subjects open-label study on safety and efficacy","authors":"Chui Mae Wong,&nbsp;Charmain Samantha Tan,&nbsp;Hwan Cui Koh,&nbsp;Xinyi Gan,&nbsp;Szu Liang Hie,&nbsp;Seyed Ehsan Saffari,&nbsp;Joo Guan Yeo,&nbsp;Joyce Ching Mei Lam","doi":"10.1002/jdn.10402","DOIUrl":"https://doi.org/10.1002/jdn.10402","url":null,"abstract":"<p>The folate cycle has been implicated in the pathophysiology of autism due to its role in the glutathione oxidative stress pathway, amino acid and DNA methylation reactions, and neurotransmitter synthesis pathway. Previous research on folinic acid supplementation in autistic children has suggested potential benefits. The primary aim of this pilot study was to determine the safety, feasibility and efficacy of oral folinic acid in improving communication and behaviour in autistic children. Ten autistic children were recruited into an open-label pre-post treatment within-subjects design study. At <i>T</i> = 0, 12 and 24 weeks, participants underwent safety evaluations, standardized assessments of language, autism symptoms, adaptive skills and global illness severity, and eye-gaze tracking. During the control period (0–12 weeks), participants continued with standard care. In the treatment period (12–24 weeks), participants took oral folinic acid at 2 mg/kg/day. All 10 children (nine boys, one girl; aged 4–8 years), successfully consumed oral folinic acid supplements with no adverse events. There was a reduction in Pervasive Developmental Disorder Behavior Inventory (PDDBI) Autism Composite T-score with treatment (mean [SD] T-score 49.2 [8.89] pre-treatment, 44.6 [6.19] post-treatment, <i>p</i> = 0.103). Although this difference was not statistically significant due to the small sample size, the effect size was medium-large, indicating that, as a group, there were clinically meaningful changes in PDDBI T-scores. There were also trends towards gains in communication scores and overall Clinical Global Impression scores. Folinic acid is a safe and feasible potential treatment for autism, and results from this pilot justify the need for a larger placebo-controlled trial.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142861613","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}

{"title":"The effect of tactile stimulation on spatial memory and hippocampal neuronal density in male rats with sensory deprivation during a critical period","authors":"Suheda Ozkan,&nbsp;Pınar Oz,&nbsp;Yaren Erdogan,&nbsp;Melisa Akpinar,&nbsp;Aya Sahsahi,&nbsp;Zehra Gecen","doi":"10.1002/jdn.10404","DOIUrl":"10.1002/jdn.10404","url":null,"abstract":"<p>It is well known that sensory information driven from whiskers serves as an example of tactile perception in rodents, and plays an important role in social behavior, environmental exploration, and decision-making processes, the influence of manipulations performed during the development of whiskers, on learning has been received little attention in the literature. This study aimed to evaluate the effect of tactile stimulation (TS) on spatial memory performance and neuronal density in the hippocampus during adulthood in early sensory-deprived rats. Wistar albino male rats were divided into four groups: control (CTL), bilateral whisker trimming (BWT), tactile stimulation (TS), and bilateral whisker trimming+tactile stimulation (BWT + TS). All whiskers were trimmed between P0–10, a critical period for whisker development. TS was applied from P3 to P21 using a soft brush. In this study, the 8-arm radial maze test was conducted from postnatal days 77 to 81 to assess spatial memory Animals sacrificed by intracardial perfusion and neuronal density in CA1, CA3, vDG, and dDG regions of the hippocampus were evaluated by Nissl staining. TS exposure negatively affected spatial memory performance and hippocampal neuronal density compared to BWT. We conclude that TS in healthy offspring can cause stress by interrupting maternal care, given the vulnerability of early development. On the contrary, the sensory deprivation protocol in this study was terminated at a time of high homeostatic plasticity and did not produce complete whisker deprivation, have triggered learning by inducing moderate stress early in development.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142817993","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}

{"title":"Breaking boundaries: A systematic review of the application of non-invasive brain stimulation symptoms and sleep parameters in people with ADHD","authors":"Renato Mendes dos Santos,&nbsp;Victor Marinho,&nbsp;Sabrina Nayara de Araújo Val,&nbsp;Ariel Soares Teles,&nbsp;Daniel Lima Sousa,&nbsp;Victor Hugo do Vale Bastos,&nbsp;Leonardo Peres de Souza,&nbsp;Angelina Ketllen Cachoeira de Sousa,&nbsp;Gabryella Stefane Firmino de Moraes,&nbsp;Silmar Teixeira","doi":"10.1002/jdn.10401","DOIUrl":"10.1002/jdn.10401","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Studies of non-invasive treatments such as repetitive transcranial magnetic stimulation (rTMS) and transcranial direct current stimulation (tDCS) can contribute in an alternative way to the symptoms treatment and changes in sleep patterns in attention deficit hyperactivity disorder (ADHD), due to some scientific evidence of action on cognition and clinical characteristics.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>The aim of this systematic review was to evaluate studies of non-invasive brain stimulation using rTMS and tDCS on symptoms and sleep parameters in people with ADHD, in order to synthesize the main findings on intervention effects.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methodology</h3>\u0000 \u0000 <p>A systematic review was carried out using the PRISMA protocol in the PubMed/Medline, Embase, PsycInfo, CINAHL, PEDro and Central—Cochrane library databases were initially carried out on 14 March 2024 and repeated until September 2024. Randomized clinical trials evaluating the effect of rTMS and tDCS on symptoms and changes in sleep pattern in people with ADHD were included. Primary outcomes were total severity of ADHD symptoms and sleep quality assessed by questionnaires and instrument measures.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The review evidenced only positive findings in five studies for tDCS in some cognitive functions, ADHD symptoms and improvement in sleep parameters, being results with reduced efficacy due to the high heterogeneity in the experimental protocols.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The findings show limited evidence; however, it is suggested that the combined use of non-invasive stimulation with other approaches, such as cognitive training, may improve the intervention effect. It is also important to consider limitations such as heterogeneity in clinical protocols, selection of participants with ADHD, including dosage and frequency. These factors should be explored in future research to optimize the application of these therapies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142806961","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}

{"title":"Brain-derived neurotrophic factor as a promising neuromarker which could predict psychomotor developmental impairment in children with unrepaired congenital heart defects","authors":"Lacramioara Eliza Chiperi,&nbsp;Asmaa Carla Hagau,&nbsp;Cristina Tecar,&nbsp;Adina Hutanu,&nbsp;Iolanda Muntean","doi":"10.1002/jdn.10400","DOIUrl":"10.1002/jdn.10400","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>The aim of the study was to assess the predicting value of neuromarkers for psychomotor performances of congenital heart defect (CHD) patients before surgery, as until now the researchers only evaluated neuromarkers after the surgical treatment of the CHD.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This cross-sectional study included children with CHD who did not receive treatment (interventional or cardiac surgery). Psychomotor development was evaluated using the Denver II Screening Test. Blood samples were collected for neuromarkers analysis: neuron-specific enolase (NSE), protein S100 (pS100), brain-derived neurotrophic factor (BDNF), and glial fibrillary acidic protein (GFAP).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We enrolled 77 children. Patients with CHD experienced more frequent developmental delays compared to healthy children (12–34% in the non-cyanotic group and 26–74% in the cyanotic group). The association between type of CHD and psychomotor impairment was statistically significant (<i>p</i> &lt; 0.0001, RR = 2.604, CI = 2.07–3.26). Neuromarkers value was compared between cyanotic and non-cyanotic groups: NSE and BDNF values were higher in the cyanotic group, respectively, pS100 and GFAP had slightly higher values in the non-cyanotic group. A correlation coefficient of 0.35 (<i>p</i> = 0.023) was obtained between psychomotor development and BDNF level. An AUC of 0.72 was obtained for psychomotor development and BDNF in ROC analysis with the cut-off value of 5895 pg/ml.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>BDNF is showing moderate discriminative ability in predicting psychomotor development outcomes in pediatric patients with CHD.</p>\u0000 </section>\u0000 </div>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11670148/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142806959","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}

{"title":"A patient with a PTPN11 gene variant complicated with Chiari I malformation and syringomyelia and a review of literatures","authors":"Zhi Yi,&nbsp;Jiao Xue,&nbsp;Zhenfeng Song,&nbsp;Fei Li,&nbsp;Chengqing Yang,&nbsp;Ying Zhang","doi":"10.1002/jdn.10396","DOIUrl":"10.1002/jdn.10396","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Background&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;According to previous literature reports, &lt;i&gt;PTPN11&lt;/i&gt; 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 &lt;i&gt;PTPN11&lt;/i&gt; variant. However, it is not always clear whether the association between CIM and/or syringomyelia and &lt;i&gt;PTPN11&lt;/i&gt; variants is real or random. We try to explain this phenomenon by reporting a clinical case and making a mini-review.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Methods&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;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.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Results&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;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&gt;G (p. Asn308Asp) in the &lt;i&gt;PTPN11&lt;/i&gt; 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 &lt;i&gt;PTPN11&lt;/i&gt; gene variant. Among them, four were complicated with both CIM and syringomyelia, and two were complicated with CIM only.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Conclusions&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;We report another case with a &lt;i&gt;PTPN11&lt;/i&gt; variant that was complicated with both CIM and syringomyelia. It suggests that CIM and syringomyelia may be clinical manifestations of &lt;i&gt;PTPN11&lt;/i&gt; 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","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142800618","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}

{"title":"Oxidative stress and apoptosis of the spinal cord in a rat model of retinoic acid-induced neural tube defects","authors":"Peng Wu,&nbsp;Nan Shen,&nbsp;Shaoguang Feng,&nbsp;Weiguang Liu,&nbsp;Jun Wang,&nbsp;Chen Wang","doi":"10.1002/jdn.10399","DOIUrl":"10.1002/jdn.10399","url":null,"abstract":"<p>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.</p>","PeriodicalId":13914,"journal":{"name":"International Journal of Developmental Neuroscience","volume":"85 1","pages":""},"PeriodicalIF":1.7,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142780017","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}