Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery最新文献

筛选
英文 中文
Long-term neurocognitive and behavioral outcomes in patients with non-syndromic craniosynostosis. 非综合征性颅缝闭闭患者的长期神经认知和行为预后。
Jacqueline Ihnat, Kevin Gao Hu, Jeremy Goss, Omar Allam, Neil Parikh, Melanie Vassallo, Linda Mayes, John Persing, Michael Alperovich
{"title":"Long-term neurocognitive and behavioral outcomes in patients with non-syndromic craniosynostosis.","authors":"Jacqueline Ihnat, Kevin Gao Hu, Jeremy Goss, Omar Allam, Neil Parikh, Melanie Vassallo, Linda Mayes, John Persing, Michael Alperovich","doi":"10.1007/s00381-025-06888-0","DOIUrl":"https://doi.org/10.1007/s00381-025-06888-0","url":null,"abstract":"<p><strong>Purpose: </strong>In this study, we explore the long-term cognitive capabilities and behaviors of patients in late adolescence and early adulthood who underwent corrective surgery for craniosynostosis as infants.</p><p><strong>Methods: </strong>Patients 16 years of age or older who had undergone surgery as infants for any type of non-syndromic craniosynostosis were identified from the operating records of three craniofacial plastic surgeons from a single institution. Participants underwent standardized neurocognitive testing using the BEERY and WASI. A subset of patients additionally underwent behavioral testing using the CAARS-2, ASR, SRS-2, and BRIEF standardized tests.</p><p><strong>Results: </strong>Thirty-two participants underwent neurocognitive testing and 22 participants underwent behavioral testing. The mean scores for the WASI FSIQ-4, PRI, and VCI were not significantly different than the general population. The mean score for BEERY VMI was 95, BEERY VP was 97, and BEERY MC was 92, all of which were significantly lower than the population average. Twenty-three percent of participants scored high or very high on the CAARS-2 ADHD index, and of the 44 total patients contacted, 13.6% either confirmed having a diagnosis of autism or tested moderate-severe on the SRS-2 autism screener.</p><p><strong>Conclusions: </strong>Patients have comparable neurocognition relative to the general population, with deficits in visual and motor integration. However, there is a significantly higher prevalence of ADHD and autism-related behaviors in this cohort. These findings are useful in counseling parents with infants who have been diagnosed with craniosynostosis, as well as in directing early screening and intervention for these patients to provide the resources and therapies families need.</p>","PeriodicalId":520587,"journal":{"name":"Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery","volume":"41 1","pages":"233"},"PeriodicalIF":0.0,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144639565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
MRI-based, three-dimensionally assessed tumor burden and growth velocity to predict visual acuity deterioration in optic pathway glioma - results of a retrospective longitudinal analysis. 基于mri,三维评估肿瘤负荷和生长速度预测视神经胶质瘤的视力恶化-回顾性纵向分析的结果。
David Gorodezki, Felix Tonagel, Julian Zipfel, Markus Mezger, Karin Haas-Lude, Ursula Holzer, Thomas Nägele, Martin Ulrich Schuhmann, Martin Ebinger
{"title":"MRI-based, three-dimensionally assessed tumor burden and growth velocity to predict visual acuity deterioration in optic pathway glioma - results of a retrospective longitudinal analysis.","authors":"David Gorodezki, Felix Tonagel, Julian Zipfel, Markus Mezger, Karin Haas-Lude, Ursula Holzer, Thomas Nägele, Martin Ulrich Schuhmann, Martin Ebinger","doi":"10.1007/s00381-025-06890-6","DOIUrl":"10.1007/s00381-025-06890-6","url":null,"abstract":"<p><strong>Purpose: </strong>Optic pathway gliomas (OPGs) bear a high risk of visual acuity (VA) impairment, while balancing disease-related morbidity and potential therapy-related sequelae remains challenging. We assess the predictive value of MRI-based, three-dimensionally assessed tumor burden and growth velocity for VA outcomes in NF1-associated and sporadic OPGs.</p><p><strong>Methods: </strong>Thirty-three OPG patients were longitudinally observed over a median follow-up period of 10.3 years, while sequential tumor volumetry was performed to assess tumor burden and tumor growth velocity. VA was assessed as minimal angle of resolution (logMAR) with age-appropriate measures during regular ophthalmology visits.</p><p><strong>Results: </strong>During observation, therapeutic intervention was initiated in 64% of individuals due to VA deterioration or radiological progress. Impaired VA occurred in 55 vs 80% of NF1-associated vs sporadic OPG patients, respectively, while blindness of at least one eye occurred in 36% of individuals. Tumor burden showed significant correlation with VA impairment at diagnosis and individual logMAR change during follow-up (R<sup>2</sup> = .22, p = .011), while individual tumor growth velocity during follow-up showed correlation with VA deterioration in non-NF1 OPG (R<sup>2</sup> = .35, p = .04). ROC analyses identified a threshold tumor burden (> 11.1 cm<sup>3</sup>, AU ROC 0.76) and growth velocity (> 0.1 cm<sup>3</sup>/month, AU ROC 0.81) to predict loss of VA with modest sensitivity and specificity.</p><p><strong>Conclusion: </strong>These data indicate a predictive value of three-dimensionally assessed tumor burden and growth velocity for VA outcomes in OPG. Prospective evaluation within future trials may facilitate further implementation for advanced stratification, potentially identifying patients who may benefit from early therapeutic intervention.</p>","PeriodicalId":520587,"journal":{"name":"Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery","volume":"41 1","pages":"230"},"PeriodicalIF":0.0,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12254072/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144610933","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Glucocorticoid use in paediatric posterior fossa tumour surgery and the occurrence of postoperative speech impairment. 糖皮质激素在小儿后窝肿瘤手术中的应用与术后言语障碍的发生。
Rebekka Sarup, Aske F Laustsen, Martin K Sørensen, Conor Mallucci, Barry Pizer, Kristian Aquilina, Emanuela Molinari, Magnus Aasved Hjort, Radek Frič, Per Nyman, Magnus Sabel, Pelle Nilsson, Algimantas Matukevičius, Peter Hauser, Katalin Mudra, Andrea Carai, Julian Zipfel, Eelco Hoving, Kirsten van Baarsen, Vladimír Beneš IIIrd, Andreas Peyrl, Karsten Nysom, Astrid Marie Sehested, Kjeld Schmiegelow, Marianne Juhler, Jonathan K Grønbæk, René Mathiesen
{"title":"Glucocorticoid use in paediatric posterior fossa tumour surgery and the occurrence of postoperative speech impairment.","authors":"Rebekka Sarup, Aske F Laustsen, Martin K Sørensen, Conor Mallucci, Barry Pizer, Kristian Aquilina, Emanuela Molinari, Magnus Aasved Hjort, Radek Frič, Per Nyman, Magnus Sabel, Pelle Nilsson, Algimantas Matukevičius, Peter Hauser, Katalin Mudra, Andrea Carai, Julian Zipfel, Eelco Hoving, Kirsten van Baarsen, Vladimír Beneš IIIrd, Andreas Peyrl, Karsten Nysom, Astrid Marie Sehested, Kjeld Schmiegelow, Marianne Juhler, Jonathan K Grønbæk, René Mathiesen","doi":"10.1007/s00381-025-06850-0","DOIUrl":"10.1007/s00381-025-06850-0","url":null,"abstract":"<p><strong>Purpose: </strong>Postoperative speech impairment (POSI) is a core symptom of cerebellar mutism syndrome (CMS) and is a common complication after the resection of paediatric posterior fossa (PF) tumours. Preoperative glucocorticoids (pGC) are considered standard treatment to reduce tumour oedema; in addition, glucocorticoids are often administered intraoperatively (iGC) to reduce both postoperative nausea and vomiting. The study aims to investigate whether the occurrence of POSI may be associated with pGC and iGC.</p><p><strong>Methods: </strong>In a prospective observational multicentre study, we included children with a PF tumour requiring either resection or open biopsy. The use of pGC and iGC, including drug type and dose, was registered. Postoperative speech status was classified as mutism, reduced speech, or habitual speech, where mutism and reduced speech were considered POSI of higher and lower severity, respectively. Proportional odds logistic regression with adjustment for tumour type, tumour location, and age was used to analyse the occurrence of POSI associated with glucocorticoids (GC).</p><p><strong>Results: </strong>From August 2014 to November 2024, we recruited 810 children, of whom 605 were included in the primary analysis. We found no association between the use of GC (pGC nor iGC) and the occurrence of POSI. The result did not change when adjusting for tumour type, tumour location, and age. The analysis included both a comparison between using and not using pGC (OR 1.06 [95% CI 0.46 -2.49], reference level: use of pGC) and/or iGC (1.28 [0.58-2.82], reference level: use of iGC), and a dose-response analysis of the occurrence of POSI in relation to doubling the dose of GC (pGC OR 1.28 [0.84-1.98]; iGC OR 1.07 [0.62-1.82]).</p><p><strong>Conclusion: </strong>Our study did not find evidence of a significant change in the occurrence of POSI with the use of pGC or iGC, but our results alone cannot rule out that the administration of pGC or iGC may have some effect. Therefore, our data do not call for a change in recommendations for the use of GC as protection against the development of POSI.</p><p><strong>Trial registration number: </strong> Clinicaltrials.gov (NCT02300766).  Date of registration: November 25, 2014.</p>","PeriodicalId":520587,"journal":{"name":"Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery","volume":"41 1","pages":"231"},"PeriodicalIF":0.0,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12254087/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144610932","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Outpatient Follow-up After Pediatric Traumatic Brain Injury at an Urban Safety Net Hospital: A Retrospective Cohort Study. 城市安全网医院儿童创伤性脑损伤门诊随访:一项回顾性队列研究。
Eric A Grin, Aarti Kishore Jain, Hannah Weiss, Asmita Mittal, Gaddah Abouzein, Paul Huang, Sandra Tomita, Eveline Teresa Hidalgo
{"title":"Outpatient Follow-up After Pediatric Traumatic Brain Injury at an Urban Safety Net Hospital: A Retrospective Cohort Study.","authors":"Eric A Grin, Aarti Kishore Jain, Hannah Weiss, Asmita Mittal, Gaddah Abouzein, Paul Huang, Sandra Tomita, Eveline Teresa Hidalgo","doi":"10.1007/s00381-025-06893-3","DOIUrl":"https://doi.org/10.1007/s00381-025-06893-3","url":null,"abstract":"<p><strong>Introduction: </strong>Traumatic brain injury (TBI) is the leading cause of pediatric disability. Most pediatric TBIs are mild but can result in long-term cognitive and functional impairments. Outpatient follow-up is essential to detect post-concussive symptoms and aid recovery.</p><p><strong>Methods: </strong>All patients 3-18 years of age with positive TBI findings on CT or MRI from 2018-2024 were retrospectively reviewed. Follow-up was defined as an appointment with neurology, neuropsychology, neurosurgery, or physical medicine and rehabilitation within three months of discharge. Analyses were performed with appropriate Chi-squared, Fisher's exact, Mann-Whitney U, or t-tests.</p><p><strong>Results: </strong>Fifty-seven patients (41 male, mean age 11.4 years) were identified, with mild TBIs (GCS 13-15) comprising 41/57 (71.9%). Four patients (7.0%) died from their injury. Of 53 surviving patients, 20 (37.7%) had follow-up appointments scheduled for them at discharge, seven (13.2%) were given a specific date and contact number, 17 (32.1%) received service referrals without a specific date, and eight (15.1%) received nonspecific directions or were directed only to follow-up with non-neuroscience services. Within three months, 32 (60.4%) patients followed up, though only 22/53 (41.5%) patients saw a non-surgical neuroscience discipline. Patients who followed up were more likely to have undergone neurosurgery (p = 0.007) or any surgical procedure at all (p = 0.007). They were also more likely to have a shorter hospital length of stay (p = 0.021). Discharge instruction type was significantly associated with follow-up (p = 0.0013); 62.5% of patients who followed up had an appointment scheduled for them or were given a specific date versus 33.4% of patients who did not follow-up. Conversely, 38.1% of patients without follow-up received nonspecific instructions or were told to follow-up with non-neuroscience specialties. This finding remained significant when excluding patients with severe TBI. Follow-up had no significant associations with demographics, injury severity, or insurance type.</p><p><strong>Conclusion: </strong>Patient-centered discharge instructions with detailed service referrals increase access to critical follow-up care. Children with TBIs should have follow-up care arranged regardless of injury severity. Larger multicenter studies are needed to validate these findings.</p>","PeriodicalId":520587,"journal":{"name":"Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery","volume":"41 1","pages":"228"},"PeriodicalIF":0.0,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144602739","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Neurologic outcomes in patients with skeletal dysplasias undergoing cervical fusion and occipitocervical fusion. 接受颈椎融合和枕颈融合的骨骼发育不良患者的神经系统预后。
John P Avendano, Tej D Azad, William ElNemer, Paul D Sponseller, Mari L Groves
{"title":"Neurologic outcomes in patients with skeletal dysplasias undergoing cervical fusion and occipitocervical fusion.","authors":"John P Avendano, Tej D Azad, William ElNemer, Paul D Sponseller, Mari L Groves","doi":"10.1007/s00381-025-06860-y","DOIUrl":"https://doi.org/10.1007/s00381-025-06860-y","url":null,"abstract":"<p><strong>Purpose: </strong>To assess neurologic function after cervical or occipitocervical spinal decompression and fusion in patients with skeletal dysplasias, and to compare the incidence of reoperation between cervical vs. occipitocervical fusion and between postoperative bracing vs. no postoperative bracing.</p><p><strong>Methods: </strong>We retrospectively reviewed data from 15 patients (mean age, 27 ± 22 years) with skeletal dysplasias (achondroplasia, chondrodysplasia punctata, osteogenesis imperfecta, Morquio syndrome, Hurler syndrome) who underwent cervical (n = 12) or occipitocervical (n = 3) decompression and fusion from 1997 to 2021 and had minimum 2-year follow-up (mean, 5.4 years). We assessed radiographic evidence of fusion, reoperation, and neurologic function (measured by the Barthel Index for Activities of Daily Living, which ranges from 0 [completely dependent] to 100 [fully independent]). Chi-squared tests compared outcomes between cervical vs. occipitocervical fusion and postoperative bracing vs. no bracing.</p><p><strong>Results: </strong>Among the 9 patients with Barthel Index values, mean values were 49 ± 29 preoperatively, 51 ± 29 postoperatively, and 53 ± 27 at medium-term follow-up, reflecting a lack of worsening in neurologic function. Five of 15 patients underwent reoperation. We found no difference in the incidence of reoperation between cervical and occipitocervical fusion (p = .49) or between braced and non-braced patients (p = .85).</p><p><strong>Conclusion: </strong>For patients with skeletal dysplasia, cervical and occipitocervical decompression and fusion can prevent worsening of neurological function. Fusion to the occiput and postoperative bracing were not associated with differences in the incidence of reoperation. Cervical spine abnormalities in patients with skeletal dysplasias, and the stenosis and instability they can cause, can be addressed with rigid internal fixation.</p>","PeriodicalId":520587,"journal":{"name":"Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery","volume":"41 1","pages":"229"},"PeriodicalIF":0.0,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144610934","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pediatric meningioma and seizures: A scoping review. 儿童脑膜瘤和癫痫:范围回顾。
Emma Ye, Ashwin Gupta, Alexander T Lyons, Shilpa B Reddy, Devang J Pastakia, Michael C Dewan
{"title":"Pediatric meningioma and seizures: A scoping review.","authors":"Emma Ye, Ashwin Gupta, Alexander T Lyons, Shilpa B Reddy, Devang J Pastakia, Michael C Dewan","doi":"10.1007/s00381-025-06889-z","DOIUrl":"10.1007/s00381-025-06889-z","url":null,"abstract":"<p><strong>Objective: </strong>Pediatric meningiomas (PM) are rare tumors with unique clinical characteristics, including their association with seizures. This review aims to explore the available evidence regarding the nature of this association, the types of evidence available, and the gaps in our understanding.</p><p><strong>Methods: </strong>We synthesized evidence from systemic literature search. We identified key clinical concepts including the frequency of seizures as a presenting feature, seizure outcomes following surgical treatment, the relationship between extent of resection and seizure freedom, the impact of histologic features or grade on seizure freedom, and the role of post-operative anti-seizure medications (ASMs). Two proportion z-tests were performed with a p < 0.05 significance threshold.</p><p><strong>Results: </strong>In our search, we found 824 pediatric meningioma cases, with 293 (35.6%) presenting with seizure(s) at the time of meningioma diagnosis. Varying information regarding tumor grade, recurrence, seizure outcomes, and use of ASM was available in all 293 patients. One hundred-thirteen cases had a listed meningioma grade, with 80 (70.8%) classified as grade I, 19 (16.8%) as grade II, and 14 (12.4%) as grade III. 12 of the 113 patients with graded tumors (10.6%) received post-operative ASMs. Post-operative seizure status was reported in 76 of these patients and 50 (65.8%) achieved seizure freedom. Twenty-one underwent subtotal resection and only 2 of 7 (28.6%) were known to have had seizure freedom.</p><p><strong>Conclusions: </strong>Seizures are a recognized clinical feature in pediatric meningioma, occurring in approximately 36% of patients. They may present at diagnosis or emerge as a postoperative complication, with implications for long-term neurological outcomes. Surgical resection remains the standard of care for pediatric meningioma, and a greater extent of resection improves seizure outcomes. The role of post-resection ASMs and the relationship between seizures and molecular characteristics of pediatric meningioma warrants further investigation.</p>","PeriodicalId":520587,"journal":{"name":"Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery","volume":"41 1","pages":"227"},"PeriodicalIF":0.0,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12245957/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144602740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical impact of fetal sac size on closed neural tube defects. 胎儿囊大小对闭合性神经管缺陷的临床影响。
Sierra D Land, Taryn Gallagher, Sanjana R Salwi, Tom A Reynolds, Leny Mathew, Edward R Oliver, Dana A Weiss, Tracy M Flanders, Juliana S Gebb, N Scott Adzick, Gregory G Heuer
{"title":"Clinical impact of fetal sac size on closed neural tube defects.","authors":"Sierra D Land, Taryn Gallagher, Sanjana R Salwi, Tom A Reynolds, Leny Mathew, Edward R Oliver, Dana A Weiss, Tracy M Flanders, Juliana S Gebb, N Scott Adzick, Gregory G Heuer","doi":"10.1007/s00381-025-06866-6","DOIUrl":"10.1007/s00381-025-06866-6","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the association between lesion volume and postnatal outcomes in patients with closed spina bifida (SB).</p><p><strong>Methods: </strong>Single-center retrospective review of all patients diagnosed with a closed SB evaluated between 2013 and 2023. Prenatal lesion volume < 3 mL was categorized as \"no sac,\" and volume ≥ 3 mL was categorized as \"sac.\"</p><p><strong>Results: </strong>Of eligible patients, 22 had a sac, and 33 did not. Myelocystocele patients more commonly had an associated saccular lesion than lipomyelomeningoceles (80% vs. 28%, p = 0.02). Lipomyelomeningocele patients demonstrated less prenatal lesion growth compared to myelocystocele patients (6.26 vs. 58.0 mL) over a median of 12.7 and 10.5 weeks, respectively. Patients with a sac had a higher proportion of talipes (40.9% vs. 9.1%; p = 0.007) compared to those without. At 5 years old, a higher proportion of patients with no sac was able to ambulate independently and required less CIC than patients with a sac (80% vs. 42%; 0% vs. 41.7%). VUDS showed a greater frequency of detrusor overactivity (60.0% vs. 45.0%) and abnormal bladder compliance (60.0% vs. 5.0%) in those with a sac compared to those without. Repeat tethered cord release was also more common (30.0% vs. 3.4%) among patients with a sac-associated defect.</p><p><strong>Conclusions: </strong>Patients with a sac had an increased risk of prenatal talipes, decreased ability to ambulate independently, increased use of CIC, and increased need for repeat tethered cord release compared to patients without a sac. Given numerous associated morbidities reported in this study, longitudinal multidisciplinary follow-up is critical in the care of these patients.</p>","PeriodicalId":520587,"journal":{"name":"Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery","volume":"41 1","pages":"226"},"PeriodicalIF":0.0,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12241283/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144602738","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Whole exome-based variant profiling and functional network characterization in neural tube defects. 神经管缺陷的全外显子组变异分析和功能网络表征。
Nermin Akcali, Saliha Handan Yildiz, Mujgan Ozdemir Erdogan, Sajjad Eslamkhah, Muhsin Elmas, Aysen Pehlivan, Mustafa Solak
{"title":"Whole exome-based variant profiling and functional network characterization in neural tube defects.","authors":"Nermin Akcali, Saliha Handan Yildiz, Mujgan Ozdemir Erdogan, Sajjad Eslamkhah, Muhsin Elmas, Aysen Pehlivan, Mustafa Solak","doi":"10.1007/s00381-025-06884-4","DOIUrl":"https://doi.org/10.1007/s00381-025-06884-4","url":null,"abstract":"<p><strong>Background: </strong>Neural tube defects (NTDs) are severe congenital malformations with complex and multifactorial etiologies involving genetic, environmental, and metabolic factors. Despite folic acid fortification efforts, a considerable proportion of cases remains unexplained at the molecular level.</p><p><strong>Objective: </strong>This study aimed to identify rare pathogenic variants in patients with NTDs using whole exome sequencing (WES) and to evaluate their functional significance through systems biology approaches.</p><p><strong>Methods: </strong>WES was performed on nine unrelated patients with clinically diagnosed NTDs. Variants were filtered using ACMG-AMP criteria and curated via the Franklin by Genoox platform. Genes carrying pathogenic or likely pathogenic variants were analyzed using STRING for protein-protein interactions and Metascape for functional enrichment.</p><p><strong>Results: </strong>Seven genes (PAH, ADGRG6, MPDZ, NARS1, ITGB2, PIGV, and STIL) harbored rare, clinically significant variants. Mutation types included missense, stop-gain, and frameshift, with both heterozygous and homozygous inheritance patterns. STRING analysis revealed a subnetwork involving MPDZ and ITGB2, related to tight junction integrity. Metascape analysis identified enrichment in biological processes such as catecholamine metabolism, floor plate development, and immune regulation.</p><p><strong>Conclusion: </strong>This study supports a polygenic and mechanistically diverse model of NTD pathogenesis, wherein rare variants affect developmental pathways including metabolism, cell adhesion, and neurogenesis. Integrating high-throughput sequencing with systems biology enhances variant interpretation and may inform future diagnostics and prevention strategies.</p>","PeriodicalId":520587,"journal":{"name":"Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery","volume":"41 1","pages":"225"},"PeriodicalIF":0.0,"publicationDate":"2025-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144562624","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Plasma levels of biomarkers associated with vasodilation and neuroinflammation in pediatric patients with head trauma and their relationship with clinical characteristics of patients. 儿童头部外伤患者血管舒张和神经炎症相关生物标志物的血浆水平及其与患者临床特征的关系
Yasemin Baranoglu Kilinc, Yasar Dagistan, Erkan Kilinc
{"title":"Plasma levels of biomarkers associated with vasodilation and neuroinflammation in pediatric patients with head trauma and their relationship with clinical characteristics of patients.","authors":"Yasemin Baranoglu Kilinc, Yasar Dagistan, Erkan Kilinc","doi":"10.1007/s00381-025-06883-5","DOIUrl":"https://doi.org/10.1007/s00381-025-06883-5","url":null,"abstract":"<p><strong>Purpose: </strong>Traumatic brain injury in children can lead to lifelong sequelae and disabilities. Identifying the mediators of the neuroinflammatory process resulting from head trauma is of great importance. We therefore explored the plasma levels of neurogenic inflammatory and vasodilator peptides in children with head trauma and their relationship with the clinical characteristics of the patients.</p><p><strong>Methods: </strong>Forty head-traumatized and 26 healthy children aged 2 months-7 years old were prospectively enrolled in the study. Demographic characteristics of patients and controls were recorded. Glasgow coma score (GCS), cause of trauma, computed tomography (CT) results, blood pressure, and pulse rate were recorded. Plasma calcitonin gene-related peptide (CGRP), pituitary adenylate cyclase-activating polypeptide-38 (PACAP-38), vasoactive intestinal peptide (VIP), and substance P (SP) levels of patients and controls were measured by ELISA. Correlation and ROC analyses were carried out.</p><p><strong>Results: </strong>The mean GCS of the patients was 14.8 ± 0.4, which was in the mild traumatic brain injury (mTBI) category. Plasma levels of CGRP, PACAP-38, VIP, and SP in patients with head trauma were significantly higher than controls. All peptide levels were significantly higher in CT-positive patients than in CT-negative patients who had only head trauma. Only CGRP was higher in female patients than in the males. A positive correlation was found between CGRP, PACAP-38, and SP levels, as well as between PACAP-38 and VIP. ROC analysis detected that these peptides had a diagnostic value in mTBI.</p><p><strong>Conclusion: </strong>Evaluation of pediatric patients with head trauma together with these neuropeptides may provide great benefits in deciding whether to perform radiography such as CT. However, due to the relatively low sensitivities in ROC analysis and small sample size, further studies are warranted before they may be used as a screening test to distinguish CT-positive from CT-negative patients.</p>","PeriodicalId":520587,"journal":{"name":"Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery","volume":"41 1","pages":"224"},"PeriodicalIF":0.0,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144556479","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Imaging features of polymorphous low-grade neuroepithelial tumors of the young: a case series. 青少年多形性低级别神经上皮肿瘤的影像学特征:一个病例系列。
Xinyao Wang, Qiufeng Yin, Shijie Liu, Heng Zhao, Haibo Zhang
{"title":"Imaging features of polymorphous low-grade neuroepithelial tumors of the young: a case series.","authors":"Xinyao Wang, Qiufeng Yin, Shijie Liu, Heng Zhao, Haibo Zhang","doi":"10.1007/s00381-025-06880-8","DOIUrl":"10.1007/s00381-025-06880-8","url":null,"abstract":"<p><p>This study reports three cases of pediatric patients with polymorphous low-grade neuroepithelial tumor (PLNTY), confirmed by surgical pathology at our medical center, and presents their clinical and imaging features. PLNTY is a newly defined subtype in the 2021 WHO Classification of Tumors of the Central Nervous System (5th edition), categorized under pediatric-type diffuse low-grade glioma, WHO grade 1. The patients included one male and two females, aged 6, 9, and 9 years, respectively. The tumors were located in the thalamus, temporal lobe, and frontal lobe. All cases showed calcifications on CT scans. Magnetic resonance imaging (MRI) revealed low signal on T1-weighted images (T1WI) and high signal on T2-weighted images (T2WI), with localized enhancement after contrast administration. Diffusion-weighted imaging (DWI) demonstrated high signal in two cases and low signal in one case. Positron emission tomography-computed tomography (PET-CT) showed increased metabolic activity in two cases, raising suspicion of high-grade malignant brain tumors preoperatively. Postoperatively, none of the patients experienced tumor recurrence during follow-up periods ranging from 1 month to 6 years. This study highlights the clinical and imaging characteristics of PLNTY in pediatric patients and underscores the diagnostic challenges as well as the generally favorable postoperative prognosis.</p>","PeriodicalId":520587,"journal":{"name":"Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery","volume":"41 1","pages":"223"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144546835","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信