• Journal of Korean Neurosurgical Society
• /
• v.62 no.3
• /
• pp.328-335
• /
• 2019

Epilepsy is one of the most common chronic neurological disorder affecting 6-7 per 1000 worldwide. Nearly one-third of patients with newly diagnosed epilepsy continue to have recurrent seizures despite adequate trial of more than two anti-seizure drugs : drug-resistant epilepsy (DRE). Children with DRE often experience cognitive and psychosocial co-morbidities requiring more urgent and aggressive treatment than adults. Epilepsy surgery can result in seizure-freedom in approximately two-third of children with improvement in cognitive development and quality of life. Understanding fundamental differences in etiology, co-morbidity, and neural plasticity between children and adults is critical for appropriate selection of surgical candidates, appropriate presurgical evaluation and surgical approach, and improved overall outcome.

• Journal of Genetic Medicine
• /
• v.16 no.1
• /
• pp.27-30
• /
• 2019

Smith-Kingsmore syndrome (SKS; OMIM 616638), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MINDS; ORPHA 457485), is a rare autosomal dominant disorder, the prevalence of which is not known. It is caused by a heterozygous germline mutation in MTOR (OMIM 601231). Ten different MTOR germline mutations in 27 individuals have been reported in the medical literature to date. These were all gain-of-function missense variants, and about half of the 27 individuals had c.5395G>A p.(Glu1799Lys) in MTOR. Here, I report for the first time a Korean patient with the heterozygous germline mutation c.5395G>A p.(Glu1799Lys) in MTOR. It was found to be a de novo mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing. The patient showed typical clinical features of SKS, including macrocephaly/megalencephaly; moderate intellectual disability; seizures; behavioral problems; and facial dysmorphic features of curly hair, frontal bossing, midface hypoplasia, and hypertelorism.

• Molecules and Cells
• /
• v.42 no.6
• /
• pp.441-447
• /
• 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 Sleep Medicine
• /
• v.15 no.2
• /
• pp.43-47
• /
• 2018

Objectives: Obstructive sleep apnea (OSA) is common in people with epilepsy (PWE), and confers medical and seizure-related consequences when untreated. Positive airway pressure, the gold-standard for OSA management, is limited by tolerability. As serotonin is involved respiratory control and amelioration of seizure-induced respiratory events, this study aims to determine whether serotonin reuptake inhibitors (SRIs) may represent a potential therapeutic option. Methods: A retrospective study of 100 PWE and OSA ${\geq}18$ years of age was conducted. The primary outcome measure was OSA severity as function of SRI use, with rapid eye movement (REM)-related OSA as a secondary outcome. Results: Older age and depression were more common in those taking an SRI. There was no association between SRIs and OSA severity. However, the SRI group was less likely to have REM-related OSA. Conclusions: In PWE and OSA, SRI use is associated with reduced risk of REM-related OSA, and may represent a potential management strategy.

• Proceedings of the PSK Conference
• /
• 2003.10b
• /
• pp.113.1-113.1
• /
• 2003

A 35-year-old Perubian who suffered from grand mal seizures died in aircraft on his way from United States to Hongkong. When he boarded the aircraft, he was normal but later he suffered from hyperthermia, dizziness, abdominal pain, agitation and convulsion in the flight before dead. While performing the autopsy, 115 cocaine packs were found in the GI tract. To determine the concentration of cocaine and its metabolites, blood, urine, bile juice, gastric content, liver, spleen, heart, kidney, cellebrum and lung were taken and analyzed. (omitted)

• Journal of Dental Anesthesia and Pain Medicine
• /
• v.22 no.6
• /
• pp.419-426
• /
• 2022

Topical anesthetics are routinely used in dental practice for various purposes. They are usually available at higher dosages and have serious potential adverse reactions, such as seizures, anaphylaxis, and acquired methemoglobinemia. To date, the scope of application of herbal plants and their extracts, which have medicinal properties, has been elaborated in the field of dentistry. The growing interest in herbal medication can be attributed to the increased safety profile of herbal agents, in contrast to synthetic preparations that have a higher risk of systemic complications. Herbal preparations can induce topical anesthesia with minimal side effects. Recently, many studies have reported the use of topical herbal preparations. The current review aimed to evaluate data from various articles comparing the capacity of herbal topical anesthetic formulations and conventional synthetic anesthetics in reducing pain perception when used as local anesthesia before dental procedures.

• Journal of Interdisciplinary Genomics
• /
• v.5 no.1
• /
• pp.1-4
• /
• 2023

Kleefstra syndrome is caused by chromosome 9q34.3 deletion or heterozygous mutations in the Euchromatin Histone Methyl Transferase 1 (EHMT1) gene. The prevalence is estimated 1:25,000 to 1:35,000. Intellectual disability, distinctive facial features, hypotonia in childhood can be accompanied. The spectrum of Kleefstra syndrome includes behavioral/psychiatric problems, hearing and visual impairments, seizures, congenital heart defects, genitourinary defects, and obesity. Therefore, it is necessary to understand the pathophysiology and various manifestation of Kleefstra syndrome and discussing with a multidisciplinary team will help diagnose and treat Kleefstra syndrome patients.

• Analytical Science and Technology
• /
• v.19 no.1
• /
• pp.103-106
• /
• 2006

A 35-year-old Perubian who suffered from grand mal seizures died in the aircraft on his way from the United States to Hongkong via Incheon international airport of Korea. While performing the autopsy, 115 packs made with double layer of transparent film and black plastic bag containing cocaine were found in the ileum and large intestine. Among of them, 3 packs were ruptured. To determine the concentration of cocaine and its metabolites, blood, urine, bile, liver, spleen, heart, kidney, brain and gastric contents were taken and toxicological analysis was performed. Gas chromatography/mass spectrometry (GC/MS) following liquid-phase extraction using chloroform:isopropanol (=9:1) and derivatization with bis(trimethylsilyl)-trifluoroacetamide (contains 1% trimethylchlorosilane) was performed. High levels of cocaine, benzoylecgonine (BE) and ecgonine methylester (EME) were found in the postmortem blood (0.96, 3.09 and $5.59{\mu}g/mL$) and urine (32.85, 145.35 and $53.17{\mu}g/mL$), respectively. Cocaine and its metabolites were also detected in all other biological specimen.

• Journal of Veterinary Clinics
• /
• v.41 no.2
• /
• pp.95-100
• /
• 2024

A 6-year-old neutered male Poodle with a body weight of 2.7 kg was diagnosed with a congenital extrahepatic portoazygos shunt presented with progressive hepatic encephalopathy. Five days after surgical attenuation, the patient showed post-attenuation neurological signs (PANS) such as generalized tonic-clonic seizure, dull mentation, and tremor. PANS were successfully managed with antiepileptic drugs, but third-space fluid accumulation (ascites and peripheral edema) and phlebectasia were newly identified, suggesting marked portal hypertension (PHT). Telmisartan, spironolactone, carvedilol, and prednisolone were sequentially administered. Three months after surgery, both abnormal clinicopathological values such as anemia and hypoalbuminemia, and clinical signs completely resolved. Herein, we report successful management strategies for PANS and PHT in a dog following surgical attenuation of a congenital portoazygos shunt.

• Journal of Korean Neurosurgical Society
• /
• v.67 no.3
• /
• pp.299-307
• /
• 2024

Cerebral cavernous malformation (CCM) is a vascular anomaly commonly found in children and young adults. Common clinical presentations of pediatric patients with CCMs include headache, focal neurological deficits, and seizures. Approximately 40% of pediatric patients are asymptomatic. Understanding the natural history of CCM is crucial and hemorrhagic rates are higher in patients with an initial hemorrhagic presentation, whereas it is low in asymptomatic patients. There is a phenomenon known as temporal clustering in which a higher frequency of symptomatic hemorrhages occurs within a few years following the initial hemorrhagic event. Surgical resection remains the mainstay of treatment for pediatric CCMs. Excision of a hemosiderin-laden rim is controversial regarding its impact on epilepsy outcomes. Stereotactic radiosurgery is an alternative treatment, especially for deep-seated CCMs, but its true efficacy needs to be verified in a clinical trial.