Neurosciences最新文献_第8页

Tumefactive demyelinating lesions: A literature review of recent findings. 肿瘤活动性脱髓鞘病变：最新发现的文献综述。

IF 1.2 4区医学

Neurosciences Pub Date : 2024-07-01 DOI: 10.17712/nsj.2024.3.20230111

Yaser M Al Malik

引用次数: 0

Intracerebral benign fibrous histiocytoma. 脑内良性纤维组织细胞瘤

IF 1.2 4区医学

Neurosciences Pub Date : 2024-07-01 DOI: 10.17712/nsj.2024.3.202300116

Liusong Yang, Mingzhe Zheng, Yingfeng Zhu, Zhongqing Chen

引用次数: 0

Can artificial intelligence techniques help clinicians assess and treat patients with bone fractures? 人工智能技术能否帮助临床医生评估和治疗骨折患者？

IF 1.2 4区医学

Neurosciences Pub Date : 2024-07-01

引用次数: 0

The genetic spectrum of NF1 variants in 10 unrelated Chinese families with neurofibromatosis type 1. 10 个无血缘关系的中国 1 型神经纤维瘤病家族的 NF1 变异基因谱。

IF 1.2 4区医学

Neurosciences Pub Date : 2024-07-01 DOI: 10.17712/nsj.2024.3.20230003

Shanshan Chen, Hongrong Cheng, Guohua Zhao

{"title":"The genetic spectrum of NF1 variants in 10 unrelated Chinese families with neurofibromatosis type 1.","authors":"Shanshan Chen, Hongrong Cheng, Guohua Zhao","doi":"10.17712/nsj.2024.3.20230003","DOIUrl":"10.17712/nsj.2024.3.20230003","url":null,"abstract":"Objectives: To investigate the clinical and genetic features in a cohort of Chinese families with neurofibromatosis type 1 (NF1).Methods: The clinical information of 21 patients with NF1 in 10 families was retrospectively analyzed. To broaden the genetic spectrum of NF1, multiplex ligation-dependent probe amplification analysis was performed first, followed by the whole-exome sequencing, in order to identify pathogenic or potentially pathogenic variants of NF1 gene in 10 unrelated Chinese families.Results: Nine different NF1 variants were identified in all 10 families. Of these, 7 were known pathogenic variants and included the exon 1 deletion, exons 1-58 deletion, c.5401C>T (p.Q1801*), c.2291-2A>C, c.484C>T (p.Q162*), c.4922G>A (p.W1641*) and c.1019_1020del (p.S340Cfs*25). The 2 novel variants were c.5197T>C (p.S1733P) and c.783_797delinsC (p.K261Nfs*25). The p.S1733P variant was classified as a variant of uncertain significance, while p.K261Nfs*25 was classified as pathogenic. Hence, the positive detection rate of NF1 variants was 100% (10/10). While the truncating variants were responsible for 60.0% (6/10) of the cases, the splicing variant was responsible for 10% (1/10) of the cases.Conclusion: We identified 2 novel heterozygous variants (c.5197T>C and c.783_797delinsC) in the NF1 gene, which broadens the genetic spectrum of the NF1 gene.","PeriodicalId":19284,"journal":{"name":"Neurosciences","volume":"29 3","pages":"177-183"},"PeriodicalIF":1.2,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11305348/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141563872","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

Traumatic vertebral artery dissection associated with cervical neck traction devices. 与颈部牵引装置有关的创伤性椎动脉夹层。

IF 1.2 4区医学

Neurosciences Pub Date : 2024-07-01 DOI: 10.17712/nsj.2024.3.20230086

Walaa A Aldarwish, Rakan F Alshammari, Bader A AlEnzi

引用次数: 0

STRENGTHENED GLOBAL CAPACITIES ON CLIMATE CHANGE AND HEALTH: WHO TRAINING IN MADRID. 加强全球在气候变化和健康方面的能力：世界卫生组织在马德里举办的培训。

IF 1.2 4区医学

Neurosciences Pub Date : 2024-07-01

引用次数: 0

Unraveling morphology, methylation profiling, and diagnostic challenges in BRAF-Mutant pediatric glial and glioneuronal tumors. 揭示 BRAF 突变小儿神经胶质和神经胶质细胞肿瘤的形态学、甲基化分析和诊断难题。

IF 1.2 4区医学

Neurosciences Pub Date : 2024-07-01 DOI: 10.17712/nsj.2024.3.20230108

Murad Alturkustani

{"title":"Unraveling morphology, methylation profiling, and diagnostic challenges in BRAF-Mutant pediatric glial and glioneuronal tumors.","authors":"Murad Alturkustani","doi":"10.17712/nsj.2024.3.20230108","DOIUrl":"10.17712/nsj.2024.3.20230108","url":null,"abstract":"Objectives: To elucidate the relationship between DNA methylation profiling (DMP) and pathological diagnosis (PD) in pediatric glial and glioneuronal tumors with B-Raf proto-oncogene, serine/threonine kinase (BRAF) mutations, addressing their diagnostic challenges.Methods: This retrospective study, conducted in Saudi Arabia, analyzed 47 cases from the Children's Brain Tumor Network online database using scanned images, next-generation sequencing data, and methylation profiles processed using the Heidelberg methylation brain tumor classifiers v12.5 and v12.8. The data was last access on 10 November 2023.Results: The highest prevalence of BRAF mutations was observed in pilocytic astrocytoma and ganglioglioma. The DMP was consistent with PD in 23 cases, but discrepancies emerged in others, including diagnostic changes in diffuse leptomeningeal glioneuronal tumor and polymorphous low-grade neuroepithelial tumor of the young. A key inconsistency appeared between a pilocytic astrocytoma MC and a glioneuronal tumor PD. Two high-grade astrocytomas were misclassified as pleomorphic xanthoastrocytomas. Additionally, low variant allelic frequency in gangliogliomas likely contributed to misclassifications as control in 5 cases.Conclusion: This study emphasized the importance of integrating DMP with PD in diagnosing pediatric glial and glioneuronal tumors with BRAF mutations. Although DMP offers significant diagnostic insights, its limitations, particularly in cases with low tumor content, necessitate cautious interpretation, as well as its use as a complementary diagnostic tool, rather than a definitive method.","PeriodicalId":19284,"journal":{"name":"Neurosciences","volume":"29 3","pages":"168-176"},"PeriodicalIF":1.2,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11305341/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141563875","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

More than what meets the eye in COVID-19 critical illness: A case report of bilateral femoral neuropathy due to psoas hematomas. COVID-19危重症患者的病症远不止这些：腰肌血肿导致双侧股神经病变的病例报告。

IF 1.2 4区医学

Neurosciences Pub Date : 2024-05-01 DOI: 10.17712/nsj.2024.2.20230072

Ameerah K Alsaqobi, Brouj A Miskin, Biju Gopinath, Ghada Elgohary

{"title":"More than what meets the eye in COVID-19 critical illness: A case report of bilateral femoral neuropathy due to psoas hematomas.","authors":"Ameerah K Alsaqobi, Brouj A Miskin, Biju Gopinath, Ghada Elgohary","doi":"10.17712/nsj.2024.2.20230072","DOIUrl":"10.17712/nsj.2024.2.20230072","url":null,"abstract":"Bilateral femoral neuropathy is rare, especially that caused by bilateral compressive iliopsoas, psoas, or iliacus muscle hematomas. We present a case of bilateral femoral neuropathy due to spontaneous psoas hematomas developed during COVID-19 critical illness. A 41-year-old patient developed COVID-19 pneumonia, and his condition deteriorated rapidly. A decrease in the hemoglobin level prompted imaging studies during his intensive care unit (ICU) stay. Bilateral psoas hematomas were identified as the source of bleeding. Thereafter, the patient complained of weakness in both upper and lower limbs and numbness in the lower limb. He was considered to have critical illness neuropathy and was referred to rehabilitation. Electrodiagnostic testing suggested bilateral femoral neuropathy because of compression due to hematomas developed during the course of his ICU stay. The consequences of iliopsoas hematomas occurring in the critically ill can be catastrophic, ranging from hemorrhagic shock to severe weakness, highlighting the importance of recognizing this entity.","PeriodicalId":19284,"journal":{"name":"Neurosciences","volume":"29 2","pages":"133-138"},"PeriodicalIF":1.2,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11305369/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140916855","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

Review of the spectrum of tuberous sclerosis complex: The Saudi Arabian Experience. 回顾结节性硬化症复合病谱：沙特阿拉伯的经验。

IF 1.2 4区医学

Neurosciences Pub Date : 2024-05-01 DOI: 10.17712/nsj.2024.2.20230061

Mohammed Almuqbil, Waad Aldoohan, Sara Alhinti, Nora Almahmoud, Imad Abdulmajeed, Rayan Alkhodair, Amna Kashgari, Duaa Baarmah, Waleed Altwaijri, Ahmad Alrumayyan

{"title":"Review of the spectrum of tuberous sclerosis complex: The Saudi Arabian Experience.","authors":"Mohammed Almuqbil, Waad Aldoohan, Sara Alhinti, Nora Almahmoud, Imad Abdulmajeed, Rayan Alkhodair, Amna Kashgari, Duaa Baarmah, Waleed Altwaijri, Ahmad Alrumayyan","doi":"10.17712/nsj.2024.2.20230061","DOIUrl":"10.17712/nsj.2024.2.20230061","url":null,"abstract":"Objectives: To determine the prevalence of tuberous sclerosis complex (TSC) in the paediatric Saudi population and to characterise the range of clinical symptoms, neurocutaneous findings, neuroimaging results, and complications of the disease.Methods: A total of 61 genetically confirmed TSC patients from the National Guard Health Affairs (NGHA) in Saudi Arabia were the subject of this retrospective descriptive analysis. The data were presented using descriptive measures.Results: The mean age at diagnosis was found to be 4.9 years. Subependymal nodules (86.9%), numerous cortical tubers and/or radial migration lines (63.9%), and hypomelanotic macules (63.9%) were the 3 most common significant criteria. The vast majority (86.9%) of those diagnosed had epilepsy, of which 50% were considered medically intractable. Nearly half of our subjects underwent genetic testing, which revealed that TSC2 predominated over TSC1. Symptoms of Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND) were present in 66.7% of TSC1 patients and 73.9% of TSC2 patients.Conclusion: The findings of this study demonstrate that the clinical spectrum of TSC among Saudi children is consistent with the body of existing literature. The TSC2 was more prevalent than TSC1. The most frequent signs were cutaneous and neurological. Monitoring TSC patients regularly is crucial to identify any issues as soon as possible.","PeriodicalId":19284,"journal":{"name":"Neurosciences","volume":"29 2","pages":"113-121"},"PeriodicalIF":1.2,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11305360/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140916907","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

Sporadic subependymal giant cell astrocytoma with somatic TSC2 mutation: A case report. 散发性巨细胞星形细胞瘤伴有体细胞TSC2突变：病例报告。

IF 1.2 4区医学

Neurosciences Pub Date : 2024-05-01 DOI: 10.17712/nsj.2024.2.20230089

Ali H Alassiri, Turki M Alfayea, Tariq I Aljared, Khaled R Alenezi

{"title":"Sporadic subependymal giant cell astrocytoma with somatic TSC2 mutation: A case report.","authors":"Ali H Alassiri, Turki M Alfayea, Tariq I Aljared, Khaled R Alenezi","doi":"10.17712/nsj.2024.2.20230089","DOIUrl":"10.17712/nsj.2024.2.20230089","url":null,"abstract":"Subependymal giant cell astrocytoma (SEGA) is a rare circumscribed astrocytic glioma that occurs in approximately 25% of all tuberous sclerosis (TSC) cases. Herein, we discuss an atypical presentation of SEGA, including the genetic alterations, impact on clinical presentation, and the determinants of each medical and surgical treatment option. A 14-year-old girl presented with intermittent headache and a right intraventricular mass originating near the foramen of Monro. The tumor's proximity to critical structures necessitated maximum safe resection, which improved her symptoms. Histological findings indicated SEGA, and genetic sequencing revealed a TSC2 mutation. However, complete clinical and radiological evaluations failed to reveal TSC. Two months later, a new subependymal nodule was incidentally found. She had a recurrent left occipital horn lesion and diffuse smooth leptomeningeal enhancement with no spine drop metastases. She was administered everolimus as the tumor was considered unresectable. Subsequent imaging revealed a reduction in both residual and new lesions.","PeriodicalId":19284,"journal":{"name":"Neurosciences","volume":"29 2","pages":"139-143"},"PeriodicalIF":1.2,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11305366/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140916918","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