• Molecules and Cells
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• 제42권6호
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• pp.441-447
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• 2019

RAS gene mutations are frequently found in one third of human cancers. Affecting approximately 1 in 1,000 newborns, germline and somatic gain-of-function mutations in the components of RAS/mitogen-activated protein kinase (RAS/MAPK) pathway has been shown to cause developmental disorders, known as RASopathies. Since RAS-MAPK pathway plays essential roles in proliferation, differentiation and migration involving developmental processes, individuals with RASopathies show abnormalities in various organ systems including central nervous system. The frequently seen neurological defects are developmental delay, macrocephaly, seizures, neurocognitive deficits, and structural malformations. Some of the defects stemmed from dysregulation of molecular and cellular processes affecting early neurodevelopmental processes. In this review, we will discuss the implications of RAS-MAPK pathway components in neurodevelopmental processes and pathogenesis of RASopathies.

• Journal of Cerebrovascular and Endovascular Neurosurgery
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• 제26권2호
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• pp.119-129
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• 2024

Knowledge of the venous anatomy is essential for appropriately treating dural arteriovenous fistulas (AVFs). It is challenging to determine the overall venous structure despite performing selective angiography for dural AVFs with feeder from multiple selected arteries. This is because only a part of the veins can be observed through the shunt in the selected artery. Therefore, after performing selective angiography of all vessels to understand the approximate venous anatomy, the venous anatomy can be easily understood by closely examining the source image of computed tomographic angiography or magnetic resonance angiography. Through this, it is possible to specify the vein that is to be blocked (target embolization), thereby avoiding extensive blocking of the vein and avoiding various complications. In the case of dural AVF with feeder from single selected artery, if the multiplanar reconstruction image of the three-dimensional rotational computed tomography obtained by performing angiography is analyzed thoroughly, a shunted pouch can be identified. If embolization is performed by targeting this area, unnecessary sinus total packing can be avoided.

• Journal of Preventive Medicine and Public Health
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• 제50권6호
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• pp.347-360
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• 2017

Objectives: This meta-analysis aimed to evaluate congenital malformations in infants conceived by assisted reproductive techniques (ART), compared with infants conceived spontaneously. Methods: In this study, available resources searched to find relevant articles included PubMed, ScienceDirect, Scopus, Google Scholar, Cochrane, ProQuest, Iranmedex, Magiran, and Scientific Information Database. After extracting the necessary information from evaluated articles, meta-analysis on the articles' data was performed using Stata version 11.2. Results: In this study, from a total of 339 articles, extracted from the initial investigation, ultimately 30 articles were selected for meta-analysis that assessed the use of ART on the risk of congenital abnormalities and some birth complications on 5 470 181 infants (315 402 cases and 5 154 779 controls). The odds ratio (95% confidence interval [CI]) for low birth weight was 1.89 (95% CI, 1.36 to 2.62), preterm labor 1.79 (95% CI, 1.21 to 2.63), cardiac abnormalities 1.43 (95% CI, 1.27 to 1.62), central nervous system abnormalities 1.36 (95% CI, 1.10 to 1.70), urogenital system abnormalities 1.58 (95% CI, 1.28 to 1.94), musculoskeletal disorders 1.35 (95% CI, 1.12 to 1.64), and chromosomal abnormalities in infants conceived by ART was 1.14 (95% CI, 0.90 to 1.44), which were all statistically significant, except chromosomal abnormalities. Conclusions: The risk of congenital abnormalities and some birth complications were significantly higher in ART than normal conception, while chromosomal abnormalities were not; therefore, the application of ART should be selected individually for patients by detailed assessment to reduce such risks in the population.

• Clinical and Experimental Pediatrics
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• 제46권6호
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• pp.597-601
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• 2003

저자들은 저출생 체중과 호흡 곤란을 주소로 출생 직후 이송 된 여아에서, 진찰상 안면과 골격계 기형 소견 보여 말초 혈액에서 시행한 염색체 핵형 검사에서 trisomy 9, low level mosaic type으로 진단되었던 1례를 경험하였기에 보고하는 바이다.

• Journal of Korean Neurosurgical Society
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• 제61권4호
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• pp.485-493
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• 2018

Objective : Cerebral varices (CVs) without an arteriovenous shunt, so called nonfistulous CVs, are very rare, and their etiology and natural course are not well understood. The aim of this study is to evaluate the clinical outcomes of nonfistulous CVs by the analysis of 39 cases. Methods : From 2000 to 2015, 22 patients with 39 nonfistulous CVs (${\geq}5mm$) were found by searching the medical and radiologic records of our institute. Clinical data and radiological data including numbers, sizes and locations of CVs and associated anomalies were retrospectively collected and analyzed. Previously reported cases in literature were reviewed as well. Results : The mean age of the patients was 21 years (range, 0-78 years). On average, $1.8{\pm}1.2CVs$ were found per patient. CVs were categorized as either fusiform or saccular depending on their shapes. Two patients had saccular type CVs, seventeen patients had fusiform types, and three patients had both fusiform and saccular CVs. Eight patients had associated compromise of the vein of Galen and the straight sinus. Four of those patients had sinus pericranii, as well. Five patients had CVs that were distal draining veins of large developmental venous anomalies. One patient had associated migration anomaly, and two patients had Sturge-Weber syndrome. Six patients with an isolated cerebral varix were observed. Of the 39 CVs in 22 patients, 20 lesions in 14 patients were followed up in outpatient clinics with imaging studies. The average follow-up duration was 6.6 years. During this period, no neurological events occurred, and all the lesions were managed conservatively. Conclusion : Nonfistulous CVs seemed to be asymptomatic in most cases and remained clinically silent. Hence, we suggest conservative management.

• Journal of Cerebrovascular and Endovascular Neurosurgery
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• 제26권1호
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• pp.71-78
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• 2024

Dural arteriovenous fistula (DAVF) is a rare condition affecting approximately 1.5% of 1,000,000 individuals annually. It frequently occurs in the transsigmoid and cavernous sinuses. An isolated sigmoid sinus is extremely rare and is treated by performing transfemoral transvenous embolization along the opposite transverse sinus. A 69-year-old woman presented with asymptomatic Borden type III/Cognard type III DAVF involving an isolated sigmoid sinus. She underwent a staged operation in which a navigation system was used to expose the sigmoid sinus in the operating room before transferring the patient to the angio suite for transvenous embolization. Various modalities have been used to treat DAVF, including surgical disconnection, transarterial embolization, transvenous embolization, and stereotactic radiosurgery. However, treating DAVF cases where the affected sinus is isolated can be challenging because an easily accessible surgical route may not be available. In this case, direct sinus cannulation and transvenous embolization were the most effective treatments.

• Journal of Korean Neurosurgical Society
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• 제30권7호
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• pp.947-950
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• 2001

Cavernous angiomas are being increasingly well recognized throughout the central nervous system due to the widespread use of magnetic resonance imaging(MRI). However, these malformations are uncommon in the spinal column and rarely occur in the spinal cord. Here, we report a case of a cervical cord intramedullary cavernous angioma in a 49-year-old man. The patient had complained of left upper extremity paresthesia and weakness in the left hand for 5 days prior to admission. A neurological examination showed a left C-6 dermatome paresthesia and a weakness in the left hand grasping power. A MRI demonstrated a mixed signal intensity core at the C-5 level and a surrounding edema on the T-2 weighted image. Conservatively, a laminectomy was performed and slightly hard and well demarcated intramedullary mass was removed. A histological examination confirmed the diagnosis of a cavernous angioma.

• Journal of Cerebrovascular and Endovascular Neurosurgery
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• 제26권1호
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• pp.79-84
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• 2024

Intracranial non-galenic pial arteriovenous fistula (PAVF) is an extremely rare vascular malformation, where one or more pial arteries feeds directly into a cortical vein without any intervening nidus. Though occasionally they can be asymptomatic, neurological symptoms such as headache, seizure, or focal neurological deficit are more common presenting features. Life threatening or fatal hemorrhage is not uncommon, hence needed to be treated more often than not. Spontaneous occlusion of PAVF is reported only four times before. We report a 49-year-old gentleman, who was diagnosed to have a PAVF, possibly secondary to trauma. He presented 5 months and 22 days from initial digital subtraction angiography (DSA) for treatment, and follow-up angiogram showed complete obliteration. He denied any significant event, medication or alternate treatment during this period. His clinical symptoms were stable as well. We postulate iodinated contrast medium induced vasculopathy as a possible cause, which has been described for other vascular pathologies, but never for PAVF.

• Radiation Oncology Journal
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• 제13권1호
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• pp.87-94
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• 1995

Since March 1992, total 200 patients who visited our hospital as functional or organic lesions of central nervous system were treated by gamma knife stereotactic radiosurgery for 27 months. Thirty-nine patients of total cases was diagnosed as cerebral arteriovenous malformation. The rate of magnification on X-ray film was reduced by cutting fixation adaptor from 1.0 to below 1.45 times. In order to treat the deep- and lateral-seated cerebral arteriovenous malformation, we slightly modified the angiographic indicator, the commercial Leksell system, by cutting each inner sides about 5mm, We performed the more distinction of the scales by adapting 0.5mm or 1mm copper filter to angiographic indicator. The center point of indicator(X=100mm, Y=100mm, Z=100mm) is corrected by adjusting scales of X-, Y-, Z-axis to each inner 100 and outer 100 point within 1-2mm by repeated exposure of X-ray on films in trial-and-errors. We have developed the 'GKANGIO' programed as the Fortran-77 in Microvax - 3100, which can save treatment planning time and perform accurate pretreatment planning using the theoretical target metrix center. The theoretical description of the simplified method is presented for the reduction of experimental and numerical errors in treatment planning of radiosurgery.

• Molecules and Cells
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• 제41권2호
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• pp.110-118
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• 2018

The objective of this study was to induce the production of isthmic organizer (IsO)-like cells capable of secreting fibroblast growth factor (FGF) 8 and WNT1 from human embryonic stem cells (ESCs). The precise modulation of canonical Wnt signaling was achieved in the presence of the small molecule CHIR99021 ($0.6{\mu}M$) during the neural induction of human ESCs, resulting in the differentiation of these cells into IsO-like cells having a midbrain-hindbrain border (MHB) fate in a manner that recapitulated their developmental course in vivo. Resultant cells showed upregulated expression levels of FGF8 and WNT1. The addition of exogenous FGF8 further increased WNT1 expression by 2.6 fold. Gene ontology following microarray analysis confirmed that IsO-like cells enriched the expression of MHB-related genes by 40 fold compared to control cells. Lysates and conditioned media of IsO-like cells contained functional FGF8 and WNT1 proteins that could induce MHB-related genes in differentiating ESCs. The method for generating functional IsO-like cells described in this study could be used to study human central nervous system development and congenital malformations of the midbrain and hindbrain.