Pub Date : 2024-02-27DOI: 10.1016/j.neuchi.2024.101545
Mohammad Ghorbani , Ehsan Keykhosravi , Mahsa Vatanparast , Daniel Elyassirad , Navid Golchin , Hojjat Mirsardoo , Mohammad Hasanpour
Introduction
Traumatic intracranial aneurysms are rare, making up about 1% of all intracranial aneurysms. They can happen due to direct injury or blunt force, with the middle cerebral artery being the most frequent site.
The middle meningeal artery (MMA) is the main artery that supplies the cranial dura mater, and, because of its location, is susceptible to damage after trauma. This article reported an unusual case of giant post-traumatic MMA pseudoaneurysm.
Case
A 45 year-old man was referred to our department with a history of craniectomy. He complained of non-specific headache, but neurological examination was normal. A follow-up brain CT scan identified a right temporal fossa hyperdense mass. Digital subtraction angiography diagnosed a traumatic MMA aneurysm. The patient was treated with preoperative aneurysm embolization and surgical resection.
Discussion
Traumatic MMA aneurysm is a rare presentation after head trauma. It can manifest as epidural hematoma, subdural hematoma or intraparenchymal hematoma, and sometimes resembles the present case, which was discovered incidentally.
Conclusion
Pseudoaneurysm is a rare complication of MMA trauma, with late presentation. It should be considered in patients with history of traumatic brain injury and temporal fossa extra-axial mass lesion with vascular characteristics.
{"title":"Traumatic middle meningeal artery aneurysm: a case report","authors":"Mohammad Ghorbani , Ehsan Keykhosravi , Mahsa Vatanparast , Daniel Elyassirad , Navid Golchin , Hojjat Mirsardoo , Mohammad Hasanpour","doi":"10.1016/j.neuchi.2024.101545","DOIUrl":"https://doi.org/10.1016/j.neuchi.2024.101545","url":null,"abstract":"<div><h3>Introduction</h3><p>Traumatic intracranial aneurysms are rare, making up about 1% of all intracranial aneurysms. They can happen due to direct injury or blunt force, with the middle cerebral artery being the most frequent site.</p><p>The middle meningeal artery (MMA) is the main artery that supplies the cranial dura mater, and, because of its location, is susceptible to damage after trauma. This article reported an unusual case of giant post-traumatic MMA pseudoaneurysm.</p></div><div><h3>Case</h3><p>A 45 year-old man was referred to our department with a history of craniectomy. He complained of non-specific headache, but neurological examination was normal. A follow-up brain CT scan identified a right temporal fossa hyperdense mass. Digital subtraction angiography diagnosed a traumatic MMA aneurysm. The patient was treated with preoperative aneurysm embolization and surgical resection.</p></div><div><h3>Discussion</h3><p>Traumatic MMA aneurysm is a rare presentation after head trauma. It can manifest as epidural hematoma, subdural hematoma or intraparenchymal hematoma, and sometimes resembles the present case, which was discovered incidentally.</p></div><div><h3>Conclusion</h3><p>Pseudoaneurysm is a rare complication of MMA trauma, with late presentation. It should be considered in patients with history of traumatic brain injury and temporal fossa extra-axial mass lesion with vascular characteristics.</p></div>","PeriodicalId":51141,"journal":{"name":"Neurochirurgie","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139985413","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}
Pub Date : 2024-02-23DOI: 10.1016/j.neuchi.2024.101542
Inibehe Ime Okon , Tolulope Judah Gbayisome , Bipin Chaurasia
{"title":"Obstacles encountered by emerging early career neurosurgery researchers from LMICs","authors":"Inibehe Ime Okon , Tolulope Judah Gbayisome , Bipin Chaurasia","doi":"10.1016/j.neuchi.2024.101542","DOIUrl":"https://doi.org/10.1016/j.neuchi.2024.101542","url":null,"abstract":"","PeriodicalId":51141,"journal":{"name":"Neurochirurgie","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139935845","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}
Pub Date : 2024-02-22DOI: 10.1016/j.neuchi.2024.101544
Jeong Eun Shin, Jong Young Lee
Background and importance
The diagnosis of basilar artery perforator aneurysm is difficult due to their small size, with high rates of negative angiography. Furthermore, due to the considerable variation of basilar artery perforator (BAP), even if an aneurysm originates from a BAP, it is often difficult to clearly identify its origin on angiography.
Clinical presentation
A 46-female patient presented with World Federation of Neurological Surgeons Scale 1 subarachnoid hemorrhage. Initial imaging study, including digital subtraction angiography (DSA), revealed no vascular lesions. Two-week after admission, DSA revealed an aneurysm arising from the left superior cerebellar artery (SCA). Endovascular coil embolization was planned first. However, aneurysm selection using microcatheter was failed. Then, surgical approach was done via pre-temporal approach. We identified SCA, but there was no aneurysm. Further dissection revealed an aneurysm arising from basilar artery perforator, which was overlapped by SCA. The parent artery of the aneurysm arose from juxtaproximal to the orifice of left SCA, and crossed SCA at the juxtadistal to the aneurismal sac. Complete clip occlusion was done preserving BAP. After the surgery, the patient developed diplopia without extraoccular movement limitations. Two-month after the surgery, she was fully recovered without any neurologic deficits.
Conclusion
It is crucial to adequately consider the possibility of open surgery as a viable option in case that endovascular treatment of aneurysms originated from the distal segment of basilar artery proves unsuccessful.
{"title":"Ruptured basilar artery perforator aneurysm mimicking superior cerebellar artery aneurysm","authors":"Jeong Eun Shin, Jong Young Lee","doi":"10.1016/j.neuchi.2024.101544","DOIUrl":"https://doi.org/10.1016/j.neuchi.2024.101544","url":null,"abstract":"<div><h3>Background and importance</h3><p>The diagnosis of basilar artery perforator aneurysm is difficult due to their small size, with high rates of negative angiography. Furthermore, due to the considerable variation of basilar artery perforator (BAP), even if an aneurysm originates from a BAP, it is often difficult to clearly identify its origin on angiography.</p></div><div><h3>Clinical presentation</h3><p>A 46-female patient presented with World Federation of Neurological Surgeons Scale 1 subarachnoid hemorrhage. Initial imaging study, including digital subtraction angiography (DSA), revealed no vascular lesions. Two-week after admission, DSA revealed an aneurysm arising from the left superior cerebellar artery (SCA). Endovascular coil embolization was planned first. However, aneurysm selection using microcatheter was failed. Then, surgical approach was done via pre-temporal approach. We identified SCA, but there was no aneurysm. Further dissection revealed an aneurysm arising from basilar artery perforator, which was overlapped by SCA. The parent artery of the aneurysm arose from juxtaproximal to the orifice of left SCA, and crossed SCA at the juxtadistal to the aneurismal sac. Complete clip occlusion was done preserving BAP. After the surgery, the patient developed diplopia without extraoccular movement limitations. Two-month after the surgery, she was fully recovered without any neurologic deficits.</p></div><div><h3>Conclusion</h3><p>It is crucial to adequately consider the possibility of open surgery as a viable option in case that endovascular treatment of aneurysms originated from the distal segment of basilar artery proves unsuccessful.</p></div>","PeriodicalId":51141,"journal":{"name":"Neurochirurgie","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139935844","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}
Pub Date : 2024-02-15DOI: 10.1016/j.neuchi.2024.101539
Johan Pallud , Marc Zanello
{"title":"When the neurosurgeon Marcel David mentored the psychiatrist Jean Talairach at Sainte-Anne Hospital during World War II","authors":"Johan Pallud , Marc Zanello","doi":"10.1016/j.neuchi.2024.101539","DOIUrl":"https://doi.org/10.1016/j.neuchi.2024.101539","url":null,"abstract":"","PeriodicalId":51141,"journal":{"name":"Neurochirurgie","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139737840","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}
Pub Date : 2024-02-13DOI: 10.1016/j.neuchi.2024.101540
Hongpeng Guan , Ying Zhang , Xuhui Wang
Rathke’s cleft cyst (RCC) apoplexy is an uncommon lesion attributed to abnormal vascular supply to the fragile RCC epithelial wall. It is rare in children and very difficult to diagnose without pathologic confirmation. Here, we report an 8-year-old boy who presented with headache and visual deficit. MRI and CT showed a cystic mass in the sellar region. He underwent endoscopic endonasal surgery, and the cystic mass was resected completely via a trans-sphenoidal approach. The lesion was confirmed as RCC apoplexy by intraoperative observation and histopathological examination. Headache was completely relieved and the visual field deficit improved remarkably after the operation. The authors recommend surgical management for pediatric RCC apoplexy patients who present with severe neuro-ophthalmic signs or deterioration of consciousness, although there are at present no standardized management guidelines for pediatric RCC apoplexy.
{"title":"Rathke’s cleft cyst apoplexy in a boy treated by endoscopic endonasal surgery: case report and literature review","authors":"Hongpeng Guan , Ying Zhang , Xuhui Wang","doi":"10.1016/j.neuchi.2024.101540","DOIUrl":"https://doi.org/10.1016/j.neuchi.2024.101540","url":null,"abstract":"<div><p>Rathke’s cleft cyst (RCC) apoplexy is an uncommon lesion attributed to abnormal vascular supply to the fragile RCC epithelial wall. It is rare in children and very difficult to diagnose without pathologic confirmation. Here, we report an 8-year-old boy who presented with headache and visual deficit. MRI and CT showed a cystic mass in the sellar region. He underwent endoscopic endonasal surgery, and the cystic mass was resected completely via a trans-sphenoidal approach. The lesion was confirmed as RCC apoplexy by intraoperative observation and histopathological examination. Headache was completely relieved and the visual field deficit improved remarkably after the operation. The authors recommend surgical management for pediatric RCC apoplexy patients who present with severe neuro-ophthalmic signs or deterioration of consciousness, although there are at present no standardized management guidelines for pediatric RCC apoplexy.</p></div>","PeriodicalId":51141,"journal":{"name":"Neurochirurgie","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139732935","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}
Pub Date : 2024-02-08DOI: 10.1016/j.neuchi.2024.101541
Michel W. Bojanowski , Fady T. Charbel
{"title":"Vertebral artery pathologies. Preface","authors":"Michel W. Bojanowski , Fady T. Charbel","doi":"10.1016/j.neuchi.2024.101541","DOIUrl":"https://doi.org/10.1016/j.neuchi.2024.101541","url":null,"abstract":"","PeriodicalId":51141,"journal":{"name":"Neurochirurgie","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139737428","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}
Pub Date : 2024-02-06DOI: 10.1016/j.neuchi.2024.101537
Anna Maria Auricchio , Francesco Calvanese , Anni Pohjola , Aki Laakso , Mika Niemelä
Background
The association between intracranial hemangioblastomas and arteriovenous malformations has been documented in very few cases in literature since 1965 and might present in three modalities: "intermixed, adjacent and separated (spatially and temporally)”. Often, the pattern of presentation is “intermixed”. According to our systematic review, we propose an adjustment of the previous classification, specifically for these entities. We describe the first case of a truly “spatially separated” association between these two lesions.
Methods
Our study encompassed all adult patients diagnosed with both intracranial hemangioblastoma and AVM who were evaluated in the last 20-year period, from 2003 to 2023 at Helsinki University Hospital. Cases of this coexistence were retrospectively identified and collected from clinical records. For the systematic review, studies reporting the coexistence of hemangioblastoma and AVM in adult patients (>18 years old) were selected. Given the rarity of this pattern, case reports were also included.
Results
The combined analysis of our systematic review and institutional retrospective study revealed a total of only seven identified cases. We applied the classification of neoplasms and AVM by Yano, modifying and adapting it into our screened patient series. We systematically reclassified “adjacent” and genuinely “spatially separated” patterns based on the vascular axis supplying both lesions.
Conclusions
Hemangioblastomas and AVMs rarely coexist in the same patient. Our study reports the first instance of a truly "spatially separated" sporadic association between these vascular lesions. The rarity of such coexistence underscores the need for a nuanced and systematic classification to guide the management of these infrequent cases.
{"title":"Hemangioblastoma and arteriovenous malformation in the same patient: a not random association or two isolated entities? Systematic review starting from a unique case","authors":"Anna Maria Auricchio , Francesco Calvanese , Anni Pohjola , Aki Laakso , Mika Niemelä","doi":"10.1016/j.neuchi.2024.101537","DOIUrl":"https://doi.org/10.1016/j.neuchi.2024.101537","url":null,"abstract":"<div><h3>Background</h3><p>The association between intracranial hemangioblastomas and arteriovenous malformations has been documented in very few cases in literature since 1965 and might present in three modalities: \"intermixed, adjacent and separated (spatially and temporally)”. Often, the pattern of presentation is “intermixed”. According to our systematic review, we propose an adjustment of the previous classification, specifically for these entities. We describe the first case of a truly “spatially separated” association between these two lesions.</p></div><div><h3>Methods</h3><p>Our study encompassed all adult patients diagnosed with both intracranial hemangioblastoma and AVM who were evaluated in the last 20-year period, from 2003 to 2023 at Helsinki University Hospital. Cases of this coexistence were retrospectively identified and collected from clinical records. For the systematic review, studies reporting the coexistence of hemangioblastoma and AVM in adult patients (>18 years old) were selected. Given the rarity of this pattern, case reports were also included.</p></div><div><h3>Results</h3><p>The combined analysis of our systematic review and institutional retrospective study revealed a total of only seven identified cases. We applied the classification of neoplasms and AVM by Yano, modifying and adapting it into our screened patient series. We systematically reclassified “adjacent” and genuinely “spatially separated” patterns based on the vascular axis supplying both lesions.</p></div><div><h3>Conclusions</h3><p>Hemangioblastomas and AVMs rarely coexist in the same patient. Our study reports the first instance of a truly \"spatially separated\" sporadic association between these vascular lesions. The rarity of such coexistence underscores the need for a nuanced and systematic classification to guide the management of these infrequent cases.</p></div>","PeriodicalId":51141,"journal":{"name":"Neurochirurgie","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0028377024000080/pdfft?md5=c274e9ce497672e1289dd4b35ceb5712&pid=1-s2.0-S0028377024000080-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139699817","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}
Pub Date : 2024-02-06DOI: 10.1016/j.neuchi.2024.101535
Valérie Gilbert, Sara Chakir, Jean-Baptiste Peeters, Gilles El Hage, Moujahed Labidi, Roland Jabre, Chiraz Chaalala, Michel W. Bojanowski
Background
Adhesive arachnoiditis is a rare yet serious complication that may occur following subarachnoid hemorrhage (SAH). In this circumstance, it is mainly due to ruptured vertebral artery (VA) or posterior inferior artery (PICA) aneurysms. It disrupts cerebrospinal fluid (CSF) flow leading to complications such as spinal arachnoiditis, syringomyelia, trapped 4th ventricle, or a combination of these conditions. Evidence for effective treatment strategies is currently limited. We aimed to review the epidemiology, clinical characteristics, treatment, complications, outcomes, and prognosis of cranio-vertebral junction and spinal adhesive arachnoiditis resulting from ruptured VA and PICA aneurysms.
Methods
This study involved a comprehensive literature review and complemented by our own case. We focused on adult cases of arachnoiditis, syringomyelia, and trapped 4th ventricle with SAH caused by ruptured VA or PICA aneurysms, excluding cases unrelated to these aneurysms and those with insufficient data.
Results
The study included 22 patients, with a mean age of 52.4 years. Symptoms commonly manifest within the first year after SAH and timely diagnosis requires a high index of suspicion. Treatment approaches included lysis of adhesions and various shunt procedures. Most patients showed improvement post-treatment, though symptom recurrence is significant.
Conclusion
Adhesive arachnoiditis is a critical complication following SAH, most commonly from ruptured VA and PICA aneurysms. Early detection and individualized treatment based on the type of arachnoiditis and CSF flow impact are crucial for effective management. This study underscores the need for tailored treatment strategies and further research in this field.
背景粘连性蛛网膜炎是蛛网膜下腔出血(SAH)后可能出现的一种罕见但严重的并发症。在这种情况下,主要是由于椎动脉(VA)或后下动脉(PICA)动脉瘤破裂所致。它扰乱了脑脊液(CSF)的流动,导致脊髓蛛网膜炎、鞘膜积液、第四脑室陷闭等并发症,或这些病症的合并出现。目前,有效治疗策略的证据还很有限。我们旨在回顾 VA 和 PICA 动脉瘤破裂导致的颅椎交界处和脊柱粘连性蛛网膜炎的流行病学、临床特征、治疗、并发症、结果和预后。我们主要研究了VA或PICA动脉瘤破裂导致的蛛网膜炎、鞘膜积液和第四脑室陷闭伴SAH的成人病例,排除了与这些动脉瘤无关的病例和数据不充分的病例。症状通常在 SAH 后第一年内出现,及时诊断需要高度怀疑。治疗方法包括粘连溶解和各种分流术。结论粘连性蛛网膜炎是 SAH 后的重要并发症,最常见于 VA 和 PICA 动脉瘤破裂。根据蛛网膜炎的类型和 CSF 流的影响进行早期检测和个体化治疗是有效治疗的关键。本研究强调了量身定制治疗策略和在该领域开展进一步研究的必要性。
{"title":"Craniovertebral and spinal adhesive arachnoiditis: a late complication of ruptured vertebral and posterior inferior cerebellar arteries aneurysms","authors":"Valérie Gilbert, Sara Chakir, Jean-Baptiste Peeters, Gilles El Hage, Moujahed Labidi, Roland Jabre, Chiraz Chaalala, Michel W. Bojanowski","doi":"10.1016/j.neuchi.2024.101535","DOIUrl":"https://doi.org/10.1016/j.neuchi.2024.101535","url":null,"abstract":"<div><h3>Background</h3><p>Adhesive arachnoiditis is a rare yet serious complication that may occur following subarachnoid hemorrhage (SAH). In this circumstance, it is mainly due to ruptured vertebral artery (VA) or posterior inferior artery (PICA) aneurysms. It disrupts cerebrospinal fluid (CSF) flow leading to complications such as spinal arachnoiditis, syringomyelia, trapped 4th ventricle, or a combination of these conditions. Evidence for effective treatment strategies is currently limited. We aimed to review the epidemiology, clinical characteristics, treatment, complications, outcomes, and prognosis of cranio-vertebral junction and spinal adhesive arachnoiditis resulting from ruptured VA and PICA aneurysms.</p></div><div><h3>Methods</h3><p>This study involved a comprehensive literature review and complemented by our own case. We focused on adult cases of arachnoiditis, syringomyelia, and trapped 4th ventricle with SAH caused by ruptured VA or PICA aneurysms, excluding cases unrelated to these aneurysms and those with insufficient data.</p></div><div><h3>Results</h3><p>The study included 22 patients, with a mean age of 52.4 years. Symptoms commonly manifest within the first year after SAH and timely diagnosis requires a high index of suspicion. Treatment approaches included lysis of adhesions and various shunt procedures. Most patients showed improvement post-treatment, though symptom recurrence is significant.</p></div><div><h3>Conclusion</h3><p>Adhesive arachnoiditis is a critical complication following SAH, most commonly from ruptured VA and PICA aneurysms. Early detection and individualized treatment based on the type of arachnoiditis and CSF flow impact are crucial for effective management. This study underscores the need for tailored treatment strategies and further research in this field.</p></div>","PeriodicalId":51141,"journal":{"name":"Neurochirurgie","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139694129","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}
Pub Date : 2024-02-03DOI: 10.1016/j.neuchi.2024.101536
Thomas Gaberel
{"title":"Introduction: SNCLF and SFNC report on the vertebral artery","authors":"Thomas Gaberel","doi":"10.1016/j.neuchi.2024.101536","DOIUrl":"10.1016/j.neuchi.2024.101536","url":null,"abstract":"","PeriodicalId":51141,"journal":{"name":"Neurochirurgie","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139693472","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}
Pub Date : 2024-02-02DOI: 10.1016/j.neuchi.2024.101538
Jian Dai, Haitao Jiang, Zhang Cheng, Yao Li, Xiaoming Tang
Background
Genetic polymorphism of KIAA1217 has been reported to be associated with lumbar disc herniation (LDH) in different populations such as Japanese population and Finnish population. This study aimed to explore whether the genetic polymorphism of KIAA1217 is functionally associated with LDH in Chinese population.
Methods
SNP rs16924573 of KIAA1217 was genotyped in 1272 patients and 1248 healthy controls. The mRNA expression of KIAA1217 in the intervertebral disc was analyzed for 84 patients and 32 controls. The differences of genotype and allele distributions between LDH patients and healthy controls were evaluated using the Chi-square test. One-way ANOVA test was used to compare the relationship between genotypes and tissue expression of KIAA1217.
Results
Patients were found to have significantly higher frequency of genotype GG of rs16924573 than the controls (64.2% vs. 52.8%, p < 0.001). The frequency of allele G was remarkably higher in the patients than in the controls (79.8% vs. 73.2%, p < 0.001), with an OR of 1.45 (95% confidential interval = 1.27–1.66). Compared with the controls, LDH patients were observed to have significantly decreased expression of KIAA1217. Patients with genotype GG had remarkably lower mRNA expression of KIAA1217 than those with genotype AG or AA (p = 0.01).
Conclusions
SNP rs16924573 of KIAA1217 could be functionally associated with LDH in the Chinese population. More in vivo and vitro experiments need to be carried out to further clarify the regulatory mechanism of functional variants in KIAA1217.
{"title":"Genetic polymorphism of KIAA1217 is functionally associated with lumbar disc herniation in the Chinese population","authors":"Jian Dai, Haitao Jiang, Zhang Cheng, Yao Li, Xiaoming Tang","doi":"10.1016/j.neuchi.2024.101538","DOIUrl":"10.1016/j.neuchi.2024.101538","url":null,"abstract":"<div><h3>Background</h3><p>Genetic polymorphism of <em>KIAA1217</em> has been reported to be associated with lumbar disc herniation (LDH) in different populations such as Japanese population and Finnish population. This study aimed to explore whether the genetic polymorphism of <em>KIAA1217</em> is functionally associated with LDH in Chinese population.</p></div><div><h3>Methods</h3><p>SNP rs16924573 of <em>KIAA1217</em> was genotyped in 1272 patients and 1248 healthy controls. The mRNA expression of <em>KIAA1217</em> in the intervertebral disc was analyzed for 84 patients and 32 controls. The differences of genotype and allele distributions between LDH patients and healthy controls were evaluated using the Chi-square test. One-way ANOVA test was used to compare the relationship between genotypes and tissue expression of <em>KIAA1217</em>.</p></div><div><h3>Results</h3><p>Patients were found to have significantly higher frequency of genotype GG of rs16924573 than the controls (64.2% vs. 52.8%, p<!--> <!--><<!--> <!-->0.001). The frequency of allele G was remarkably higher in the patients than in the controls (79.8% vs. 73.2%, p<!--> <!--><<!--> <!-->0.001), with an OR of 1.45 (95% confidential interval<!--> <!-->=<!--> <!-->1.27–1.66). Compared with the controls, LDH patients were observed to have significantly decreased expression of <em>KIAA1217</em>. Patients with genotype GG had remarkably lower mRNA expression of <em>KIAA1217</em> than those with genotype AG or AA (p<!--> <!-->=<!--> <!-->0.01).</p></div><div><h3>Conclusions</h3><p>SNP rs16924573 of <em>KIAA1217</em> could be functionally associated with LDH in the Chinese population. More in vivo and vitro experiments need to be carried out to further clarify the regulatory mechanism of functional variants in <em>KIAA1217</em>.</p></div>","PeriodicalId":51141,"journal":{"name":"Neurochirurgie","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139665722","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}