Journal of Korean Neurosurgical Society最新文献

Rhabdoid Tumor Predisposition Syndrome : A Comprehensive Review of Genetics, Clinical Manifestations, and Management.

IF 1.4 4区医学

Journal of Korean Neurosurgical Society Pub Date : 2025-03-27 DOI: 10.3340/jkns.2025.0014

Taehoon Kim, Ji Hoon Phi

{"title":"Rhabdoid Tumor Predisposition Syndrome : A Comprehensive Review of Genetics, Clinical Manifestations, and Management.","authors":"Taehoon Kim, Ji Hoon Phi","doi":"10.3340/jkns.2025.0014","DOIUrl":"https://doi.org/10.3340/jkns.2025.0014","url":null,"abstract":"Rhabdoid tumor predisposition syndrome (RTPS) is a rare autosomal dominant disorder characterized by an increased risk of developing malignant rhabdoid tumors in early childhood. This syndrome is primarily caused by germline heterozygous loss-of-function pathogenic variants in the SMARCB1 gene (RTPS1) and rarely in the SMARCA4 gene (RTPS2). RTPS is characterized by the development of atypical teratoid rhabdoid tumors (ATRT) of the central nervous system, malignant rhabdoid tumors of the kidney (RTK), and/or extrarenal extracranial rhabdoid tumors (EERT). The syndrome demonstrates high penetrance, with most tumors developing before age 3 years, and carries a poor prognosis despite intensive multimodal therapy. Early diagnosis through genetic testing, implementation of surveillance protocols, and aggressive treatment approaches are crucial for improving outcomes. This review comprehensively examines the genetic basis, clinical manifestations, surveillance strategies, and current management approaches for RTPS, with particular emphasis on emerging therapeutic options and the importance of multidisciplinary care.","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143719773","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

Surgical Correction for Adolescent Idiopathic Scoliosis : A Case Series of 139 Consecutive Patients Treated in Neurosurgical Department.

IF 1.4 4区医学

Journal of Korean Neurosurgical Society Pub Date : 2025-03-20 DOI: 10.3340/jkns.2024.0224

SungSoo Bae, Seung-Jae Hyun, Jae-Koo Lee, Dae-Jean Jo, Ki-Jeong Kim

{"title":"Surgical Correction for Adolescent Idiopathic Scoliosis : A Case Series of 139 Consecutive Patients Treated in Neurosurgical Department.","authors":"SungSoo Bae, Seung-Jae Hyun, Jae-Koo Lee, Dae-Jean Jo, Ki-Jeong Kim","doi":"10.3340/jkns.2024.0224","DOIUrl":"https://doi.org/10.3340/jkns.2024.0224","url":null,"abstract":"Objective: This study aimed to evaluate the clinical and radiographic results of patients with adolescent idiopathic scoliosis (AIS) operated by a single neurosurgeon.Methods: A total of 139 consecutive patients with AIS who underwent corrective surgery by a single neurosurgeon were investigated between January 2011 and January 2024. Segmental instrumentation with pedicle screws was utilized for deformity correction. Demographic information, structural type of curve using Lenke classification, degree of correction achieved, total numbers of fusion levels, complications, and clinical/radiographic results were evaluated.Results: Most patients were adolescent girls (105 vs. 34) with an average age of 15.9 vs. 16.0, respectively. The average duration of follow-up was 4.5 years (0.1-13.0 years). Nine (6.6%) patients had levoscoliosis, and the remaining 130 had dextroscoliosis. Chiari malformation with syringomyelia was incidentally diagnosed in four (2.8%) patients. Of the patients having Chiari malformation, two (50%) had levoscoliosis. The mean number of fused levels was 11.2. The mean value of the Cobb angle at the major structural curvature was 63.4° (43°-125°). The major structural curve's average percentage of correction was 78.8%. The final postoperative SRS-22 average score significantly improved to 4.3±0.4 compared with the preoperative score of 3.8±0.5 (P < 0.001). After the surgery, there were no observed cases of neurological deficits or need for screw repositioning. Revision fusion extension surgery was performed on one patient to treat postoperative shoulder imbalance.Conclusion: Patients with AIS treated by a neurosurgeon had acceptable clinical and radiographic results. However, AIS surgery necessitates a fundamental comprehension of pediatric spinal deformities, which is crucial. Furthermore, spine surgeons should be careful with patients who have levoscoliosis.","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143663658","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

Von Hippel-Lindau Disease : A Comprehensive Review of Diagnosis, Genetics, Clinical Challenges, and Surveillance.

IF 1.4 4区医学

Journal of Korean Neurosurgical Society Pub Date : 2025-03-20 DOI: 10.3340/jkns.2025.0018

Na Young Jung, Jun Bum Park

引用次数: 0

Clinical and Genetic Overview of Neurofibromatosis Type 2 (NF2).

IF 1.4 4区医学

Journal of Korean Neurosurgical Society Pub Date : 2025-03-14 DOI: 10.3340/jkns.2025.0048

Tae-Kyun Kim, Young-Soo Park, Ichiro Nakagawa

引用次数: 0

Insights into Tuberous Sclerosis Complex : From Genes to Clinics.

IF 1.4 4区医学

Journal of Korean Neurosurgical Society Pub Date : 2025-03-14 DOI: 10.3340/jkns.2025.0035

Soo Yeon Kim

引用次数: 0

Genetic Basis and Clinical Management of Schwannomatosis.

IF 1.4 4区医学

Journal of Korean Neurosurgical Society Pub Date : 2025-03-06 DOI: 10.3340/jkns.2025.0001

Shohei Nagasaka, Ji Hoon Phi

{"title":"Genetic Basis and Clinical Management of Schwannomatosis.","authors":"Shohei Nagasaka, Ji Hoon Phi","doi":"10.3340/jkns.2025.0001","DOIUrl":"https://doi.org/10.3340/jkns.2025.0001","url":null,"abstract":"Schwannomatosis (SWN) is now recognized as a broad classification that includes neurofibromatosis (NF) type 2, reflecting their shared genetic and phenotypic characteristics. Previously, SWN and NF type 2 were considered distinct clinical entities; however, the 2022 classification revision has unified them under the umbrella of SWN, with NF type 2 now referred to as NF2-related SWN. SWN arises from mutations in NF2, SMARCB1 or LZTR1. Recent diagnostic criteria for SWN incorporate molecular classification, including \"NF2-related SWN\", \"SMARCB1-related SWN\", \"LZTR1-related SWN\", \"22q-related SWN\", \"SWN-not otherwise specified\", or \"SWN-not elsewhere classified\". NF2-related SWN is a genetic condition where all individuals with a germline or constitutional NF2 mutation are destined to develop the disease. The pathogenesis of SMARCB1- or LZTR1-related SWN follows a three-step, four-hit model. This involves retention of the mutated germline SMARCB1 or LZTR1 allele in the tumor, loss of the wild-type chromosome 22, and somatic mutation in the NF2 gene. Clinically, NF2-related SWN involves bilateral vestibular schwannomas, with treatment options including microsurgery, radiotherapy, and bevacizumab, each with specific benefits and limitations. Patients with SWN frequently present with chronic pain caused by schwannomas, which often does not correlate with tumor size, location, or burden. Management of SWN is primarily symptom-based. Surgical intervention is reserved for symptomatic lesions, particularly in cases of spinal cord compression or significant functional impairments. Multidisciplinary approaches to pain management are critical for enhancing quality of life. Although malignant transformation of schwannomas is a potential risk, the life expectancy of individuals with SWN is nearly normal. Despite advancements in understanding SWN, further research is necessary to elucidate the underlying genetic mechanisms and to develop targeted therapeutic strategies for this complex disorder.","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143572920","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

Neovascularization in Outer Membrane of Chronic Subdural Hematoma : A Rationale for Middle Meningeal Artery Embolization. 慢性硬膜下血肿外膜的新生血管：脑膜中动脉栓塞术的原理。

IF 1.4 4区医学

Journal of Korean Neurosurgical Society Pub Date : 2025-03-01 Epub Date: 2024-08-26 DOI: 10.3340/jkns.2024.0101

Hadeel M Mansour, Bipin Chaurasia

引用次数: 0

Comparative Analysis of Transcription Factors TWIST2, GATA3, and HES5 in Glioblastoma Multiforme : Evaluating Biomarker Potential and Therapeutic Targets Using in Silico Methods. 多形性胶质母细胞瘤中转录因子 TWIST2、GATA3 和 HES5 的比较分析：使用 In Silico 方法评估生物标记物的潜力和治疗靶点。

IF 1.4 4区医学

Journal of Korean Neurosurgical Society Pub Date : 2025-03-01 Epub Date: 2024-10-24 DOI: 10.3340/jkns.2024.0149

Suhmi Chung, Choonghyo Kim

{"title":"Comparative Analysis of Transcription Factors TWIST2, GATA3, and HES5 in Glioblastoma Multiforme : Evaluating Biomarker Potential and Therapeutic Targets Using in Silico Methods.","authors":"Suhmi Chung, Choonghyo Kim","doi":"10.3340/jkns.2024.0149","DOIUrl":"10.3340/jkns.2024.0149","url":null,"abstract":"Objective: Glioblastoma multiforme (GBM) is characterized by substantial heterogeneity and limited therapeutic options. As molecular approaches to central nervous system tumors have gained prominence, this study examined the roles of three genes, TWIST2, GATA3, and HES5, known to be involved in oncogenesis, developmental processes, and maintenance of cancer stem cell properties, which have not yet been extensively studied in GBM. This study is the first to present gene expression data for TWIST2, GATA3, and HES5 specifically within the context of GBM patient survival.Methods: Gene expression data for TWIST2, GATA3, and HES5 were collected from GBM and normal brain tissues using datasets from The Cancer Genome Atlas via the Genomic Data Commons portal and the Genotype-Tissue Expression database. These data were rigorously analyzed using in silico methods.Results: All three genes were significantly more expressed in GBM tissues than in normal tissues. TWIST2 and GATA3 were linked to lower survival rates in GBM patients. Interestingly, higher HES5 levels were associated with better survival rates, suggesting a complex role that needs more investigation.Conclusion: This study shows that TWIST2, GATA3, and HES5 could help predict outcomes in GBM patients. Our multigene model offers a better understanding of GBM and points to new treatment options, bringing hope for improved therapies and patient outcomes. This research advances our knowledge of GBM and highlights the potential of molecular diagnostics in oncology.","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":"202-212"},"PeriodicalIF":1.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11924635/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142502179","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

Neovascularization in Outer Membrane of Chronic Subdural Hematoma : A Rationale for Middle Meningeal Artery Embolization. 慢性硬膜下血肿外膜的新生血管：脑膜中动脉栓塞术的原理。

IF 1.4 4区医学

Journal of Korean Neurosurgical Society Pub Date : 2025-03-01 Epub Date: 2024-10-22 DOI: 10.3340/jkns.2024.0155

Yoori Choi, Won-Sang Cho

引用次数: 0

Posterior Lumbar Element Enforcement by Decompression Alone with Interspinous Fixation without Interbody Fusion for the Surgical Management of Lumbar Spondylolisthesis. 在腰椎滑脱症的手术治疗中，通过单纯减压和无椎间融合的棘突间固定来加固腰椎后部。

IF 1.4 4区医学

Journal of Korean Neurosurgical Society Pub Date : 2025-03-01 Epub Date: 2024-11-21 DOI: 10.3340/jkns.2024.0172

Hyun-Woong Park, Moon-Soo Han, Ji-Ho Jung, Jong-Hwan Hong, Shin-Seok Lee, Jung-Kil Lee

{"title":"Posterior Lumbar Element Enforcement by Decompression Alone with Interspinous Fixation without Interbody Fusion for the Surgical Management of Lumbar Spondylolisthesis.","authors":"Hyun-Woong Park, Moon-Soo Han, Ji-Ho Jung, Jong-Hwan Hong, Shin-Seok Lee, Jung-Kil Lee","doi":"10.3340/jkns.2024.0172","DOIUrl":"10.3340/jkns.2024.0172","url":null,"abstract":"Objective: In degenerative lumbar spondylolisthesis, interbody fusion surgery (IFS) has long been recommended as the gold standard of surgical management. However, IFS is less recommended for high-risk patients such as the elderly because it involves extensive surgery, with a long operation time and high volumes of blood loss, which lead to marked perioperative morbidity. We report an alternative primary and salvage treatment technique for high-risk lumbar spondylolisthesis through posterior lumbar element reinforcement using interspinous fixation and decompression alone without interbody fusion.Methods: Plain radiographs, computed tomography scans, and magnetic resonance imaging, taken at different intervals, were used to measure local disc height (DH), vertebral body slippage (BS), and segmental motion angle (SMA). A Visual analogue scale and the Oswestry disability index (ODI) were applied pre-operation and at the last follow-up.Results: The local SMA decreased significantly by 3.46°±3.07°, from 10.61°±3.42° preoperatively to 7.15±3.70 at the last follow-up (p<0.001). The DH decreased from 8.61±2.88 mm preoperatively to 8.41±2.48 mm at the last follow-up (p=0.074). The BS decreased from 3.49±4.29 mm preoperatively to 3.41±4.91 mm at the last follow-up (p=0.092). None of the patients reported worsening pain or an increased ODI after surgery, and there were no surgery-related complications.Conclusion: Posterior lumbar element reinforcement by decompression alone with SPIRE™ fixation is an alternative primary and salvage treatment option for select patients with spondylolisthesis.","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":"150-158"},"PeriodicalIF":1.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11924633/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142681981","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