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1.
Article in English | WPRIM | ID: wpr-889726

ABSTRACT

Purpose@#Atypical teratoid/rhabdoid tumor (ATRT) is a highly aggressive malignancy with peak incidence in children aged less than 3 years. Standard treatment for central nervous system ATRT in children under the age of 3 years have not been established yet. The objective of this study was to analyze characteristics and clinical outcomes of ATRT in children aged less than 3 years. @*Materials and Methods@#A search of medical records from seven centers was performed between January 2005 and December 2016. @*Results@#Forty-three patients were enrolled. With a median follow-up of 90 months, 27 patients (64.3%) showed at least one episode of disease progression (PD). The first date of PD was at 160 days after diagnosis. The 1- and 3-year progression-free survivals (PFS) were 51.2% and 28.5%, respectively. The 1- and 3-year overall survivals were 61.9% and 38.1%, respectively. The 3-year PFS was improved from 0% in pre-2011 to 47.4% in post-2011. Excluding one patient who did not receive any further therapy after surgery, 27 patients died due to PD (n=21), treatment-related toxicity (n=5), or unknown cause (n=1). In univariate analysis, factors associated with higher 3-year PFS were no metastases, diagnosis after 2011, early adjuvant radiotherapy, and high-dose chemotherapy (HDCT). In multivariate analysis, the use of HDCT and adjuvant radiotherapy remained significant prognostic factors for PFS (both p < 0.01). @*Conclusion@#Aggressive therapy including early adjuvant radiotherapy and HDCT could be considered to improve outcomes of ATRT in children under the age of 3 years.

2.
Article in English | WPRIM | ID: wpr-900113

ABSTRACT

Sacrococcygeal teratoma (SCT) is an extragonadal germ cell tumor (GCT) that develops in the fetal and neonatal periods. SCT is a type I GCT in which only teratoma and yolk sac tumors arise from extragonadal sites. SCT is the most common type I GCT and is believed to originate through epigenetic reprogramming of early primordial germ cells migrating from the yolk sac to the gonadal ridges. Fetal SCT diagnosed in utero presents many obstetrical problems. For high-risk fetuses, fetal interventions (devascularization and debulking) are under development. Most patients with SCT are operated on after birth. Complete surgical resection is the key for tumor control, and the anatomical location of the tumor determines the surgical approaches. Incomplete resection and malignant histology are risk factors for recurrence. Approximately 10–15% of patients have a tumor recurrence, which is frequently of malignant histology. Long-term surveillance with monitoring of serum alpha fetoprotein and magnetic resonance imaging is required. Survivors of SCT may suffer anorectal, urological, and sexual sequelae later in their life, and comprehensive evaluation and care are required.

3.
Article in English | WPRIM | ID: wpr-900108

ABSTRACT

Objective@#: Few studies exist on primary spinal cord tumors (PSCTs) in pediatric patients. The purpose of this study was to perform descriptive analysis and detailed survival analysis for PSCTs. @*Methods@#: Between 1985 and 2017, 126 pediatric patients (male : female, 56 : 70) with PSCTs underwent surgery in a single institution. We retrospectively analyzed data regarding demographics, tumor characteristics, outcomes, and survival statistics. Subgroup analysis was performed for the intramedullary (IM) tumors and extradural (ED) tumors separately. @*Results@#: The mean age of the participants was 6.4±5.04 years, and the mean follow-up time was 69.5±46.30 months. The most common compartment was the ED compartment (n=57, 45.2%), followed by the IM (n=43, 34.1%) and intradural extramedullary (IDEM; n=16, 12.7%) compartments. Approximately half of PSCTs were malignant (n=69, 54.8%). The most common pathologies were schwannomas (n=14) and neuroblastomas (n=14). Twenty-two patients (17.5%) died from the disease, with a mean disease duration of 15.8±15.85 months. Thirty-six patients (28.6%) suffered from progression, with a mean period of 22.6±30.81 months. The 10-year overall survival (OS) rates and progression-free survival (PFS) rates were 81% and 66%, respectively. Regarding IM tumors, the 10-year OS rates and PFS rates were 79% and 57%, respectively. In ED tumors, the 10-year OS rates and PFS rates were 80% and 81%, respectively. Pathology and the extent of resection showed beneficial effects on OS for total PSCTs, IM tumors, and ED tumors. PFS was affected by both the extent of removal and pathology in total PSCTs and ED tumors; however, pathology was a main determinant of PFS rather than the extent of removal in IM tumors. The degree of improvement in the modified McCormick scale showed a trend towards improvement in patients with IM tumors who achieved gross total removal (p=0.447). @*Conclusion@#: Approximately half of PSCTs were malignant, and ED tumors were most common. The most common pathologies were schwannomas and neuroblastomas. Both the pathology and extent of resection had a decisive effect on OS. For IM tumors, pathology was a main determinant of PFS rather than the extent of removal. Radical excision of IM tumors could be a viable option for better survival without an increased risk of worse functional outcomes.

4.
Article in English | WPRIM | ID: wpr-897430

ABSTRACT

Purpose@#Atypical teratoid/rhabdoid tumor (ATRT) is a highly aggressive malignancy with peak incidence in children aged less than 3 years. Standard treatment for central nervous system ATRT in children under the age of 3 years have not been established yet. The objective of this study was to analyze characteristics and clinical outcomes of ATRT in children aged less than 3 years. @*Materials and Methods@#A search of medical records from seven centers was performed between January 2005 and December 2016. @*Results@#Forty-three patients were enrolled. With a median follow-up of 90 months, 27 patients (64.3%) showed at least one episode of disease progression (PD). The first date of PD was at 160 days after diagnosis. The 1- and 3-year progression-free survivals (PFS) were 51.2% and 28.5%, respectively. The 1- and 3-year overall survivals were 61.9% and 38.1%, respectively. The 3-year PFS was improved from 0% in pre-2011 to 47.4% in post-2011. Excluding one patient who did not receive any further therapy after surgery, 27 patients died due to PD (n=21), treatment-related toxicity (n=5), or unknown cause (n=1). In univariate analysis, factors associated with higher 3-year PFS were no metastases, diagnosis after 2011, early adjuvant radiotherapy, and high-dose chemotherapy (HDCT). In multivariate analysis, the use of HDCT and adjuvant radiotherapy remained significant prognostic factors for PFS (both p < 0.01). @*Conclusion@#Aggressive therapy including early adjuvant radiotherapy and HDCT could be considered to improve outcomes of ATRT in children under the age of 3 years.

5.
Article in English | WPRIM | ID: wpr-892409

ABSTRACT

Sacrococcygeal teratoma (SCT) is an extragonadal germ cell tumor (GCT) that develops in the fetal and neonatal periods. SCT is a type I GCT in which only teratoma and yolk sac tumors arise from extragonadal sites. SCT is the most common type I GCT and is believed to originate through epigenetic reprogramming of early primordial germ cells migrating from the yolk sac to the gonadal ridges. Fetal SCT diagnosed in utero presents many obstetrical problems. For high-risk fetuses, fetal interventions (devascularization and debulking) are under development. Most patients with SCT are operated on after birth. Complete surgical resection is the key for tumor control, and the anatomical location of the tumor determines the surgical approaches. Incomplete resection and malignant histology are risk factors for recurrence. Approximately 10–15% of patients have a tumor recurrence, which is frequently of malignant histology. Long-term surveillance with monitoring of serum alpha fetoprotein and magnetic resonance imaging is required. Survivors of SCT may suffer anorectal, urological, and sexual sequelae later in their life, and comprehensive evaluation and care are required.

6.
Article in English | WPRIM | ID: wpr-892404

ABSTRACT

Objective@#: Few studies exist on primary spinal cord tumors (PSCTs) in pediatric patients. The purpose of this study was to perform descriptive analysis and detailed survival analysis for PSCTs. @*Methods@#: Between 1985 and 2017, 126 pediatric patients (male : female, 56 : 70) with PSCTs underwent surgery in a single institution. We retrospectively analyzed data regarding demographics, tumor characteristics, outcomes, and survival statistics. Subgroup analysis was performed for the intramedullary (IM) tumors and extradural (ED) tumors separately. @*Results@#: The mean age of the participants was 6.4±5.04 years, and the mean follow-up time was 69.5±46.30 months. The most common compartment was the ED compartment (n=57, 45.2%), followed by the IM (n=43, 34.1%) and intradural extramedullary (IDEM; n=16, 12.7%) compartments. Approximately half of PSCTs were malignant (n=69, 54.8%). The most common pathologies were schwannomas (n=14) and neuroblastomas (n=14). Twenty-two patients (17.5%) died from the disease, with a mean disease duration of 15.8±15.85 months. Thirty-six patients (28.6%) suffered from progression, with a mean period of 22.6±30.81 months. The 10-year overall survival (OS) rates and progression-free survival (PFS) rates were 81% and 66%, respectively. Regarding IM tumors, the 10-year OS rates and PFS rates were 79% and 57%, respectively. In ED tumors, the 10-year OS rates and PFS rates were 80% and 81%, respectively. Pathology and the extent of resection showed beneficial effects on OS for total PSCTs, IM tumors, and ED tumors. PFS was affected by both the extent of removal and pathology in total PSCTs and ED tumors; however, pathology was a main determinant of PFS rather than the extent of removal in IM tumors. The degree of improvement in the modified McCormick scale showed a trend towards improvement in patients with IM tumors who achieved gross total removal (p=0.447). @*Conclusion@#: Approximately half of PSCTs were malignant, and ED tumors were most common. The most common pathologies were schwannomas and neuroblastomas. Both the pathology and extent of resection had a decisive effect on OS. For IM tumors, pathology was a main determinant of PFS rather than the extent of removal. Radical excision of IM tumors could be a viable option for better survival without an increased risk of worse functional outcomes.

7.
Article in English | WPRIM | ID: wpr-913812

ABSTRACT

Purpose@#We aimed to refine the radiotherapy (RT) volume and dose for intracranial germinoma considering recurrences and long-term toxicities. @*Materials and Methods@#Total 189 patients with intracranial germinoma were treated with RT alone (n=50) and RT with upfront chemotherapy (CRT) (n=139). All cases were confirmed histologically. RT fields comprised the extended-field and involved-field only for primary site. The extended-field, including craniospinal, whole brain (WB), and whole ventricle (WV) for cranial field, is followed by involved-field boost. The median follow-up duration was 115 months. @*Results@#The relapses developed in 13 patients (6.9%). For the extended-field, cranial RT dose down to 18 Gy exhibited no cranial recurrence in 34 patients. In CRT, 74 patients (56.5%) showed complete response to chemotherapy and no involved-field recurrence with low-dose RT of 30 Gy. WV RT with chemotherapy for the basal ganglia or thalamus germinoma showed no recurrence. Secondary malignancy developed in 10 patients (5.3%) with a latency of 20 years (range, 4 to 26 years) and caused mortalities in six. WB or craniospinal field rather than WV or involved-field significantly increased the rate of hormone deficiencies, and secondary malignancy. RT dose for extended-field correlated significantly with the rate of hormone deficiencies, secondary malignancy, and neurocognitive dysfunction. @*Conclusion@#De-intensifying extended-field rather than involved-field or total scheme of RT will be critical to decrease the late toxicities. Upfront chemotherapy could be beneficial for the patients with complete response to minimize the RT dose down to 30 Gy. Prospective trials focused on de-intensification of the extended-field RT are warranted.

8.
Article in English | WPRIM | ID: wpr-765380

ABSTRACT

OBJECTIVE: Intracranial aneurysms are not common in young age patients. We sought to find the characteristics of the intracranial aneurysms in patients under 20 years of age. METHODS: We reviewed 23 consecutive patients ≤20 years of age treated for their intracranial aneurysms during the period from 1995 to 2017. From medical records and imaging studies, we gathered data on age, sex, presentation, associated medical condition, location and characteristics of aneurysms, treatment and clinical outcomes. RESULTS: The patients’ ages ranged from 13 months to 20 years (median, 14 years). There were 16 males and seven females (male to female ratio, 2.3 : 1) with 31 aneurysms. Clinical presentations included sudden severe headache in 61%, followed by altered mentality in 17% and seizure in 17%. More than one-fourth patients had specific medical conditions related to the development of the cerebral aneurysms. The majority of aneurysms occurred in the anterior circulation (71%), and were saccular (71%). There were each three patients with false aneurysms (13%) and giant aneurysms (13%), and only one patient with multiple aneurysms (4%). We treated 22 patients : 21 aneurysms with the endovascular methods, three with open surgery, and one with combined treatment. Good functional outcome could be achieved in 86% during the follow-up period. CONCLUSION: In this series, the young-age patients with intracranial aneurysms were characterized by male predominance, related specific medical conditions, low incidence of multiple aneurysms, high incidence of giant aneurysms and good functional outcome after treatment.


Subject(s)
Adolescent , Aneurysm , Aneurysm, False , Child , Female , Follow-Up Studies , Headache , Humans , Incidence , Intracranial Aneurysm , Male , Medical Records , Pediatrics , Risk Factors , Seizures , Treatment Outcome
9.
Article in English | WPRIM | ID: wpr-765349

ABSTRACT

Brain tumors are the second most common type of structural brain lesion that causes chronic epilepsy. Patients with low-grade brain tumors often experience chronic drug-resistant epilepsy starting in childhood, which led to the concept of long-term epilepsy-associated tumors (LEATs). Dysembryoplastic neuroepithelial tumor and ganglioglioma are representative LEATs and are characterized by young age of onset, frequent temporal lobe location, benign tumor biology, and chronic epilepsy. Although highly relevant in clinical epileptology, the concept of LEATs has been criticized in the neuro-oncology field. Recent genomic and molecular studies have challenged traditional views on LEATs and low-grade gliomas. Molecular studies have revealed that low-grade gliomas can largely be divided into three groups : LEATs, pediatric-type diffuse low-grade glioma (DLGG; astrocytoma and oligodendroglioma), and adult-type DLGG. There is substantial overlap between conventional LEATs and pediatric-type DLGG in regard to clinical features, histology, and molecular characteristics. LEATs and pediatric-type DLGG are characterized by mutations in BRAF, FGFR1, and MYB/MYBL1, which converge on the RAS-RAF-MAPK pathway. Gene (mutation)-centered classification of epilepsy-associated tumors could provide new insight into these heterogeneous and diverse neoplasms and may lead to novel molecular targeted therapies for epilepsy in the near future.


Subject(s)
Age of Onset , Astrocytoma , Biology , Brain , Brain Neoplasms , Classification , Epilepsy , Ganglioglioma , Glioma , Humans , Molecular Targeted Therapy , Neoplasms, Neuroepithelial , Seizures , Temporal Lobe
10.
Article in English | WPRIM | ID: wpr-765345

ABSTRACT

Epilepsy is one of the major chronic neurological diseases affecting many patients. Resection surgery is the most effective therapy for medically intractable epilepsy, but it is not feasible in all patients. Vagus nerve stimulation (VNS) is an adjunctive neuromodulation therapy that was approved in 1997 for the alleviation of seizures; however, efforts to control epilepsy by stimulating the vagus nerve have been studied for over 100 years. Although its exact mechanism is still under investigation, VNS is thought to affect various brain areas. Hence, VNS has a wide indication for various intractable epileptic syndromes and epilepsy-related comorbidities. Moreover, recent studies have shown anti-inflammatory effects of VNS, and the indication is expanding beyond epilepsy to rheumatoid arthritis, chronic headaches, and depression. VNS yields a more than 50% reduction in seizures in approximately 60% of recipients, with an increase in reduction rates as the follow-up duration increases. The complication rate of VNS is 3–6%, and infection is the most important complication to consider. However, revision surgery was reported to be feasible and safe with appropriate measures. Recently, noninvasive VNS (nVNS) has been introduced, which can be performed transcutaneously without implantation surgery. Although more clinical trials are being conducted, nVNS can reduce the risk of infection and subsequent device failure. In conclusion, VNS has been demonstrated to be beneficial and effective in the treatment of epilepsy and various diseases, and more development is expected in the future.


Subject(s)
Arthritis, Rheumatoid , Brain , Comorbidity , Depression , Drug Resistant Epilepsy , Epilepsy , Equipment Failure , Follow-Up Studies , Headache Disorders , Humans , Seizures , Transcutaneous Electric Nerve Stimulation , Vagus Nerve Stimulation , Vagus Nerve
11.
Article in English | WPRIM | ID: wpr-765343

ABSTRACT

Epilepsy has been known to humankind since antiquity. The surgical treatment of epilepsy began in the early days of neurosurgery and has developed greatly. Many surgical procedures have stood the test of time. However, clinicians treating epilepsy patients are now witnessing a huge tide of change. In 2017, the classification system for seizure and epilepsy types was revised nearly 36 years after the previous scheme was released. The actual difference between these systems may not be large, but there have been many conceptual changes, and clinicians must bid farewell to old terminology. Paradigms in drug discovery are changing, and novel antiseizure drugs have been introduced for clinical use. In particular, drugs that target genetic changes harbor greater therapeutic potential than previous screening-based compounds. The concept of focal epilepsy has been challenged, and now epilepsy is regarded as a network disorder. With this novel concept, stereotactic electroencephalography (SEEG) is becoming increasingly popular for the evaluation of dysfunctioning neuronal networks. Minimally invasive ablative therapies using SEEG electrodes and neuromodulatory therapies such as deep brain stimulation and vagus nerve stimulation are widely applied to remedy dysfunctional epilepsy networks. The use of responsive neurostimulation is currently off-label in children with intractable epilepsy.


Subject(s)
Child , Classification , Deep Brain Stimulation , Drug Discovery , Drug Resistant Epilepsy , Electrodes , Electroencephalography , Epilepsies, Partial , Epilepsy , Humans , Neurons , Neurosurgery , Seizures , Vagus Nerve Stimulation
12.
Article in English | WPRIM | ID: wpr-719295

ABSTRACT

BACKGROUND AND PURPOSE: This study investigated the seizure recurrence rate and potential predictors of seizure recurrence following antiepileptic drug (AED) withdrawal after resective epilepsy surgery in children with focal cortical dysplasia (FCD). METHODS: We retrospectively analyzed the records of 70 children and adolescents with FCD types I, II, and IIIa who underwent resective epilepsy surgery between 2004 and 2015 and were followed for at least 2 years after surgery. RESULTS: We attempted AED withdrawal in 40 patients. The median time of starting the AED reduction was 10.8 months after surgery. Of these 40 patients, 14 patients (35%) experienced seizure recurrence during AED reduction or after AED withdrawal. Half of the 14 patients who experienced recurrence regained seizure freedom after AED reintroduction and optimization. Compared with their preoperative status, the AED dose or number was decreased in 57.1% of patients, and remained unchanged in 14.3% after surgery. A multivariate analysis found that incomplete resection (p=0.004) and epileptic discharges on the postoperative EEG (p=0.025) were important predictors of seizure recurrence after AED withdrawal. Over the mean follow-up duration of 4.5 years after surgery, 34 patients (48.6% of the entire cohort) were seizure-free with and without AEDs. CONCLUSIONS: Children with incomplete resection and epileptic discharges on postoperative EEG are at a high risk of seizure recurrence after drug withdrawal. Complete resection of FCD may lead to a favorable surgical outcome and successful AED withdrawal after surgery.


Subject(s)
Adolescent , Anticonvulsants , Child , Electroencephalography , Epilepsy , Follow-Up Studies , Freedom , Humans , Malformations of Cortical Development , Multivariate Analysis , Recurrence , Retrospective Studies , Seizures
13.
Article in English | WPRIM | ID: wpr-788807

ABSTRACT

OBJECTIVE: Intracranial aneurysms are not common in young age patients. We sought to find the characteristics of the intracranial aneurysms in patients under 20 years of age.METHODS: We reviewed 23 consecutive patients ≤20 years of age treated for their intracranial aneurysms during the period from 1995 to 2017. From medical records and imaging studies, we gathered data on age, sex, presentation, associated medical condition, location and characteristics of aneurysms, treatment and clinical outcomes.RESULTS: The patients’ ages ranged from 13 months to 20 years (median, 14 years). There were 16 males and seven females (male to female ratio, 2.3 : 1) with 31 aneurysms. Clinical presentations included sudden severe headache in 61%, followed by altered mentality in 17% and seizure in 17%. More than one-fourth patients had specific medical conditions related to the development of the cerebral aneurysms. The majority of aneurysms occurred in the anterior circulation (71%), and were saccular (71%). There were each three patients with false aneurysms (13%) and giant aneurysms (13%), and only one patient with multiple aneurysms (4%). We treated 22 patients : 21 aneurysms with the endovascular methods, three with open surgery, and one with combined treatment. Good functional outcome could be achieved in 86% during the follow-up period.CONCLUSION: In this series, the young-age patients with intracranial aneurysms were characterized by male predominance, related specific medical conditions, low incidence of multiple aneurysms, high incidence of giant aneurysms and good functional outcome after treatment.


Subject(s)
Adolescent , Aneurysm , Aneurysm, False , Child , Female , Follow-Up Studies , Headache , Humans , Incidence , Intracranial Aneurysm , Male , Medical Records , Pediatrics , Risk Factors , Seizures , Treatment Outcome
14.
Article in English | WPRIM | ID: wpr-788777

ABSTRACT

Brain tumors are the second most common type of structural brain lesion that causes chronic epilepsy. Patients with low-grade brain tumors often experience chronic drug-resistant epilepsy starting in childhood, which led to the concept of long-term epilepsy-associated tumors (LEATs). Dysembryoplastic neuroepithelial tumor and ganglioglioma are representative LEATs and are characterized by young age of onset, frequent temporal lobe location, benign tumor biology, and chronic epilepsy. Although highly relevant in clinical epileptology, the concept of LEATs has been criticized in the neuro-oncology field. Recent genomic and molecular studies have challenged traditional views on LEATs and low-grade gliomas. Molecular studies have revealed that low-grade gliomas can largely be divided into three groups : LEATs, pediatric-type diffuse low-grade glioma (DLGG; astrocytoma and oligodendroglioma), and adult-type DLGG. There is substantial overlap between conventional LEATs and pediatric-type DLGG in regard to clinical features, histology, and molecular characteristics. LEATs and pediatric-type DLGG are characterized by mutations in BRAF, FGFR1, and MYB/MYBL1, which converge on the RAS-RAF-MAPK pathway. Gene (mutation)-centered classification of epilepsy-associated tumors could provide new insight into these heterogeneous and diverse neoplasms and may lead to novel molecular targeted therapies for epilepsy in the near future.


Subject(s)
Age of Onset , Astrocytoma , Biology , Brain , Brain Neoplasms , Classification , Epilepsy , Ganglioglioma , Glioma , Humans , Molecular Targeted Therapy , Neoplasms, Neuroepithelial , Seizures , Temporal Lobe
15.
Article in English | WPRIM | ID: wpr-788773

ABSTRACT

Epilepsy is one of the major chronic neurological diseases affecting many patients. Resection surgery is the most effective therapy for medically intractable epilepsy, but it is not feasible in all patients. Vagus nerve stimulation (VNS) is an adjunctive neuromodulation therapy that was approved in 1997 for the alleviation of seizures; however, efforts to control epilepsy by stimulating the vagus nerve have been studied for over 100 years. Although its exact mechanism is still under investigation, VNS is thought to affect various brain areas. Hence, VNS has a wide indication for various intractable epileptic syndromes and epilepsy-related comorbidities. Moreover, recent studies have shown anti-inflammatory effects of VNS, and the indication is expanding beyond epilepsy to rheumatoid arthritis, chronic headaches, and depression. VNS yields a more than 50% reduction in seizures in approximately 60% of recipients, with an increase in reduction rates as the follow-up duration increases. The complication rate of VNS is 3–6%, and infection is the most important complication to consider. However, revision surgery was reported to be feasible and safe with appropriate measures. Recently, noninvasive VNS (nVNS) has been introduced, which can be performed transcutaneously without implantation surgery. Although more clinical trials are being conducted, nVNS can reduce the risk of infection and subsequent device failure. In conclusion, VNS has been demonstrated to be beneficial and effective in the treatment of epilepsy and various diseases, and more development is expected in the future.


Subject(s)
Arthritis, Rheumatoid , Brain , Comorbidity , Depression , Drug Resistant Epilepsy , Epilepsy , Equipment Failure , Follow-Up Studies , Headache Disorders , Humans , Seizures , Transcutaneous Electric Nerve Stimulation , Vagus Nerve Stimulation , Vagus Nerve
16.
Article in English | WPRIM | ID: wpr-788771

ABSTRACT

Epilepsy has been known to humankind since antiquity. The surgical treatment of epilepsy began in the early days of neurosurgery and has developed greatly. Many surgical procedures have stood the test of time. However, clinicians treating epilepsy patients are now witnessing a huge tide of change. In 2017, the classification system for seizure and epilepsy types was revised nearly 36 years after the previous scheme was released. The actual difference between these systems may not be large, but there have been many conceptual changes, and clinicians must bid farewell to old terminology. Paradigms in drug discovery are changing, and novel antiseizure drugs have been introduced for clinical use. In particular, drugs that target genetic changes harbor greater therapeutic potential than previous screening-based compounds. The concept of focal epilepsy has been challenged, and now epilepsy is regarded as a network disorder. With this novel concept, stereotactic electroencephalography (SEEG) is becoming increasingly popular for the evaluation of dysfunctioning neuronal networks. Minimally invasive ablative therapies using SEEG electrodes and neuromodulatory therapies such as deep brain stimulation and vagus nerve stimulation are widely applied to remedy dysfunctional epilepsy networks. The use of responsive neurostimulation is currently off-label in children with intractable epilepsy.


Subject(s)
Child , Classification , Deep Brain Stimulation , Drug Discovery , Drug Resistant Epilepsy , Electrodes , Electroencephalography , Epilepsies, Partial , Epilepsy , Humans , Neurons , Neurosurgery , Seizures , Vagus Nerve Stimulation
17.
Article in English | WPRIM | ID: wpr-765258

ABSTRACT

Intracranial germ cell tumors (iGCTs) are a heterogeneous group of tumors with peculiar characteristics clearly distinguished from other brain tumors of neuroepithelial origin. Diverse histology, similarity to gonadal GCT, predilection to one sex, and geographic difference in incidence all present enigmas and fascinating challenges. The treatment of iGCT has advanced for germinoma to date; thus, clinical attention has shifted from survival to long-term quality of life. However, for non-germinomatous GCT, current protocols provide only modest improvement and more innovative therapies are needed. Recently, next-generation sequencing studies have revealed the genomic landscape of iGCT. Novel mutations in the KIT-RAS-MAPK and AKT-MTOR pathways were identified. More importantly, methylation profiling revealed a new method to assess the pathogenesis of iGCT. Molecular research will unleash new knowledge on the origin of iGCT and solve the many mysteries that have lingered on this peculiar neoplasm for a long time.


Subject(s)
Brain Neoplasms , Germ Cells , Germinoma , Gonads , Incidence , Methods , Methylation , Neoplasms, Germ Cell and Embryonal , Quality of Life , Therapies, Investigational
18.
Article in English | WPRIM | ID: wpr-765255

ABSTRACT

Intraoperative monitoring (IOM) utilizes electrophysiological techniques as a surrogate test and evaluation of nervous function while a patient is under general anesthesia. They are increasingly used for procedures, both surgical and endovascular, to avoid injury during an operation, examine neurological tissue to guide the surgery, or to test electrophysiological function to allow for more complete resection or corrections. The application of IOM during pediatric brain tumor resections encompasses a unique set of technical issues. First, obtaining stable and reliable responses in children of different ages requires detailed understanding of normal ageadjusted brain-spine development. Neurophysiology, anatomy, and anthropometry of children are different from those of adults. Second, monitoring of the brain may include risk to eloquent functions and cranial nerve functions that are difficult with the usual neurophysiological techniques. Third, interpretation of signal change requires unique sets of normative values specific for children of that age. Fourth, tumor resection involves multiple considerations including defining tumor type, size, location, pathophysiology that might require maximal removal of lesion or minimal intervention. IOM techniques can be divided into monitoring and mapping. Mapping involves identification of specific neural structures to avoid or minimize injury. Monitoring is continuous acquisition of neural signals to determine the integrity of the full longitudinal path of the neural system of interest. Motor evoked potentials and somatosensory evoked potentials are representative methodologies for monitoring. Free-running electromyography is also used to monitor irritation or damage to the motor nerves in the lower motor neuron level : cranial nerves, roots, and peripheral nerves. For the surgery of infratentorial tumors, in addition to free-running electromyography of the bulbar muscles, brainstem auditory evoked potentials or corticobulbar motor evoked potentials could be combined to prevent injury of the cranial nerves or nucleus. IOM for cerebral tumors can adopt direct cortical stimulation or direct subcortical stimulation to map the corticospinal pathways in the vicinity of lesion. IOM is a diagnostic as well as interventional tool for neurosurgery. To prove clinical evidence of it is not simple. Randomized controlled prospective studies may not be possible due to ethical reasons. However, prospective longitudinal studies confirming prognostic value of IOM are available. Furthermore, oncological outcome has also been shown to be superior in some brain tumors, with IOM. New methodologies of IOM are being developed and clinically applied. This review establishes a composite view of techniques used today, noting differences between adult and pediatric monitoring.


Subject(s)
Adult , Anesthesia, General , Anthropometry , Brain Neoplasms , Brain , Child , Cranial Nerves , Electromyography , Evoked Potentials, Auditory, Brain Stem , Evoked Potentials, Motor , Evoked Potentials, Somatosensory , Humans , Infratentorial Neoplasms , Intraoperative Neurophysiological Monitoring , Longitudinal Studies , Monitoring, Intraoperative , Motor Neurons , Muscles , Neurophysiology , Neurosurgery , Peripheral Nerves , Prospective Studies
19.
Journal of Stroke ; : 350-361, 2018.
Article in English | WPRIM | ID: wpr-717270

ABSTRACT

BACKGROUND AND PURPOSE: The pathogenesis of moyamoya disease (MMD) remains poorly understood, and no reliable molecular biomarkers for MMD have been identified to date. The present study aimed to identify epigenetic biomarkers for use in the diagnosis of MMD. METHODS: We performed integrated analyses of gene expression profiles and DNA methylation profiles in endothelial colony forming cells (ECFCs) from three patients with MMD and two healthy individuals. Candidate gene mRNA expression and DNA methylation status were further validated using reverse transcription-quantitative polymerase chain reaction (RT-qPCR) and pyrosequencing analysis of an expanded ECFC sample set from nine patients with MMD and ten controls. We evaluated the diagnostic accuracy of the potential biomarkers identified here using receiver operating characteristic curve analyses and further measured major angiogenic factor expression levels using a tube formation assay and RT-qPCR. RESULTS: Five candidate genes were selected via integrated analysis; all five were upregulated by hypomethylation of specific promoter CpG sites. After further validation in an expanded sample set, we identified a candidate biomarker gene, sortilin 1 (SORT1). DNA methylation status at a specific SORT1 promoter CpG site in ECFCs readily distinguished patients with MMD from the normal controls with high accuracy (area under the curve 0.98, sensitivity 83.33%, specificity 100%). Furthermore, SORT1 overexpression suppressed endothelial cell tube formation and modulated major angiogenic factor and matrix metalloproteinase-9 expression, implying SORT1 involvement in MMD pathogenesis. CONCLUSIONS: Our findings suggest that DNA methylation status at the SORT1 promoter CpG site may be a potential biomarker for MMD.


Subject(s)
Angiogenesis Inducing Agents , Biomarkers , Diagnosis , DNA Methylation , Endothelial Cells , Epigenomics , Humans , Matrix Metalloproteinase 9 , Moyamoya Disease , Polymerase Chain Reaction , RNA, Messenger , ROC Curve , Sensitivity and Specificity , Transcriptome
20.
Article in English | WPRIM | ID: wpr-717043

ABSTRACT

Cavernous malformations (CMs) are angiographically occult vascular lesions, and their clinical presentations vary widely according to location of the lesion. Here, we reviewed three cases of CM located at the optic apparatus. All three patients experienced visual deterioration and underwent surgical resection. One achieved complete resection of the CM, whereas the others achieved subtotal resection. Visual symptoms of the two patients who achieved subtotal resection improved, but the visual symptom of the patient who achieved complete resection remained unchanged. One patient with subtotal resection presented postoperative improvement of visual symptoms but experienced deterioration in two years after surgical resection due to rebleeding from the remnant lesion, and he required a second operation. We recommend total resection of CM when feasible and regular follow-up after subtotal resection due to the risk of rebleeding.


Subject(s)
Follow-Up Studies , Hemangioma, Cavernous , Hemorrhage , Humans , Optic Nerve
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