Objective: : The association between boule (BOLL) and endothelin receptor type A (EDNRA) loci and intracranial aneurysm (IA) formation has been reported via genome-wide association studies. We sought to identify genome-wide interactions involving BOLL and EDNRA loci for IA in a Korean adult cohort. Methods: : Genome-wide pairwise interaction analyses of BOLL and EDNRA involving 250 patients with IA and 296 controls were performed using the additive effect model after adjusting for confounding factors. Results: : Among 512575 single-nucleotide polymorphisms (SNPs), 23 and 11 common SNPs suggested a genome-wide interaction threshold (p<1.25×10-8) involving rs700651 (BOLL) and rs6841581 (EDNRA). Rather than singe SNP effect of BOLL or EDNRA on IA development, they showed a synergistic effect on IA formation via multifactorial pair-wise interactions. The rs1105980 of PTCH1 gene showed the most significant interaction with rs700651 (natural log-transformed odds ratio [lnOR], 1.53; p=6.41×10-11). The rs74585958 of RYK gene interacted strongly with rs6841581 (lnOR, -19.91; p=1.64×10-9). Although, there was no direct interaction between BOLL and EDNRA variants, two EDNRA-interacting gene variants of TNIK (rs11925024 and rs1231) and FTO (rs9302654), and one BOLL-interacting METTL4 gene variant (rs549315) exhibited marginal interaction with BOLL gene. Conclusion : BOLL or EDNRA may have a synergistic effect on IA formation via multifactorial pair-wise interactions.

Objective: : We performed an expanded multi-ethnic meta-analysis to identify associations between inflammation-related loci with intracranial aneurysm (IA) susceptibility. This meta-analysis possesses increased statistical power as it is based on the most data ever evaluated. Methods: : We searched and reviewed relevant literature through electronic search engines up to August 2022. Overall estimates were calculated under the fixed- or random-effect models using pooled odds ratio (OR) and 95% confidence intervals (CIs). Subgroup analyses were performed according to ethnicity. Results: : Our meta-analysis enrolled 15 studies and involved 3070 patients and 5528 controls including European, Asian, Hispanic, and mixed ethnic populations. Of 17 inflammation-related variants, the rs1800796 locus (interleukin [IL]-6) showed the most significant genome-wide association with IA in East-Asian populations, including 1276 IA patients and 1322 controls (OR, 0.65; 95% CI, 0.56–0.75; p=3.24×10-9) under a fixed-effect model. However, this association was not observed in the European population (OR, 1.09; 95% CI, 0.80–1.47; p=0.5929). Three other variants, rs16944 (IL-1β), rs2195940 (IL-12B), and rs1800629 (tumor necrosis factor-α) showed a statistically nominal association with IA in both the overall, as well as East-Asian populations (0.01Conclusion : Our updated meta-analysis with increased statistical power highlights that rs1800796 which maps on the IL-6 gene is associated with IA, and in particular confers a protective effect against occurrence of IA in the East-Asian population.

Although technological advances and clinical studies on stem cells have been increasingly reported in stroke, research targeting hemorrhagic stroke is still lacking compared to that targeting ischemic stroke. Studies on hemorrhagic stroke are also being conducted, mainly in the USA and China. However, little research has been conducted in Korea. In reality, stem cell research or treatment is unfamiliar to many domestic neurosurgeons. Nevertheless, given the increased interest in regenerative medicine and the increase of life expectancy, attention should be paid to this topic. In this paper, we summarized pre-clinical rodent studies and clinical trials using stem cells for hemorrhagic stroke. In addition, we discussed results of domestic investigations and future perspectives on stem cell research for a better understanding.

Background/Aims: Vascular disease is an established risk factor for stroke in patients with atrial fibrillation (AF), which is included in CHA2DS2-VASc score. However, the role of carotid atherosclerosis remains to be determined. Methods: Three hundred-ten patients with AF who underwent carotid sonography were enrolled. Results: During a median follow-up of 31 months, 18 events (5.8%) of stroke were identified. Patients with stroke had higher carotid intima-media thickness (CIMT) (1.16 ± 0.33 mm vs. 0.98 ± 0.25 mm, p = 0.017). CIMT was significantly increased according to the CHA2DS2-VASc score (p < 0.001) and it was correlated with left ventricular mass index and early diastolic mitral annular velocity (e’), a ratio of early transmitral flow velocity to e’ (E/e’) and pulmonary artery systolic pressure (all p < 0.05). Cox regression using multivariate models showed that carotid plaque was associated with the risk of stroke (hazard ratio, 3.748; 95% confidence interval [CI], 1.107 to 12.688; p = 0.034). C-statistics increased from 0.648 (95% CI, 0.538 to 0.757) to 0.716 (95% CI, 0.628 to 0.804) in the CHA2DS2-VASc score model after the addition of CIMT and carotid plaque as a vascular component (p = 0.013). Conclusions Increased CIMT and presence of carotid plaque are associated with a high risk of ischemic stroke, and CIMT is related to myocardial remodeling and diastolic dysfunction, suggesting that carotid atherosclerosis can improve risk prediction of stroke in patients with AF, when included under vascular disease in the CHA2DS2-VASc scoring system.

BACKGROUND: Transverse facial clefts are Tessier's number 7 facial cleft among numbers 1–15 in Tessier's classification of craniofacial malformations, which varies from a simple widening oral commissure to a complete fissure extending towards the external ear.CASE PRESENTATION: In a patient with a transverse facial cleft, to functionally arrange the orbicularis oris muscle and form the oral commissure naturally, we performed a surgical procedure including orbicularis oris muscle reconstruction and cheiloplasty with Z-plasty. CONCLUSION We achieved good results functionally and esthetically by orbicularis oris muscle reconstruction and cheiloplasty with Z-plasty. The surgical modality of our anatomical repair and 3 months follow-up results are presented.

OBJECTIVES: One hypothesis of obstructive sleep apnea syndrome (OSAS) is that long-standing snoring vibrations and hypoxia of the nerves cause a local neuropathy in the upper airway during sleep. The aim of this study was to investigate olfactory function in subjects comprising snorers and untreated subjects with OSAS, and to correlate data with polysomnographic parameters. METHODS: Sixty-nine patients were evaluated for snoring from January 2010 to December 2013. The mild group (apneahypopnea index [AHI]<15) consisted of 19 subjects, and the moderate-severe group (AHI≥15) consisted of 50 subjects. Exclusion criteria were conductive olfactory dysfunction, previous tonsil or soft palatal surgery, central sleep apnea, and medications that are known to affect peripheral nerves. Nocturnal polysomnography and olfactory function test such as Korean version of Sniffin’s stick test I, II (KVSS I, II) were performed. RESULTS: There was a significant difference in body mass index, average oxygen saturation (SaO2), lowest SaO2, average snoring duration, and KVSS I, II between the two groups. AHI was related to odor threshold score, and average SaO2 was related to odor discrimination score. But, odor identification score showed no relation with AHI and average SaO2 except for age. Average SaO2 and AHI were closely related to the function of smell. CONCLUSION: Hypoxia and low nasal airflow caused by OSAS may have an effect on the olfactory function. On comparison between the two groups, patients with a high AHI, especially those with OSAS, had an olfactory dysfunction. Also, low average oxygen is the main risk factor in determining the olfactory function. In people with OSAS, the possibility of olfactory dysfunction should be considered and an olfactory function test should be performed.
Anoxia ; Body Mass Index ; Discrimination (Psychology) ; Humans ; Odors ; Olfaction Disorders ; Oxygen ; Palatine Tonsil ; Peripheral Nerves ; Polysomnography ; Risk Factors ; Sleep Apnea Syndromes* ; Sleep Apnea, Central ; Sleep Apnea, Obstructive ; Smell ; Snoring ; Vibration

PURPOSE: The purpose of this study was to investigate the feasibility and survival benefits of combined treatment with radiotherapy and adjuvant temozolomide (TMZ) in a Korean sample. MATERIALS AND METHODS: A total of 750 Korean patients with histologically confirmed glioblastoma multiforme, who received concurrent chemoradiotherapy with TMZ (CCRT) and adjuvant TMZ from January 2006 until June 2011, were analyzed retrospectively. RESULTS: After the first operation, a gross total resection (GTR), subtotal resection (STR), partial resection (PR), biopsy alone were achieved in 388 (51.7%), 159 (21.2%), 96 (12.8%), and 107 (14.3%) patients, respectively. The methylation status of O6-methylguanine-DNA methyltransferase (MGMT) was reviewed retrospectively in 217 patients. The median follow-up period was 16.3 months and the median overall survival (OS) was 17.5 months. The actuarial survival rates at the 1-, 3-, and 5-year OS were 72.1%, 21.0%, and 9.0%, respectively. The median progression-free survival (PFS) was 10.1 months, and the actuarial PFS at 1-, 3-, and 5-year PFS were 42.2%, 13.0%, and 7.8%, respectively. The patients who received GTR showed a significantly longer OS and PFS than those who received STR, PR, or biopsy alone, regardless of the methylation status of the MGMT promoter. Patients with a methylated MGMT promoter also showed a significantly longer OS and PFS than those with an unmethylated MGMT promoter. Patients who received more than six cycles of adjuvant TMZ had a longer OS and PFS than those who received six or fewer cycles. Hematologic toxicity of grade 3 or 4 was observed in 8.4% of patients during the CCRT period and in 10.2% during the adjuvant TMZ period. CONCLUSION: Patients treated with CCRT followed by adjuvant TMZ had more favorable survival rates and tolerable toxicity than those who did not undergo this treatment.
Biopsy ; Chemoradiotherapy* ; Disease-Free Survival ; Follow-Up Studies ; Glioblastoma* ; Humans ; Korea* ; Methylation ; Radiotherapy ; Retrospective Studies* ; Survival Rate

Active involvement of anesthesiologists in perioperative management is important to ensure the patients' safety. This study aimed to investigate the state of anesthetic services in Korea by identifying anesthetic service providers. From the insurance claims data of National Health Insurance for 3 yr, the Korean state of anesthetic services was analyzed. The claims for anesthesia from the medical institutions which hire their own anesthesiologist or with an anesthesiologist invitation fee are assumed to be the anesthesia performed by anesthesiologists. The annual anesthetic data were similar during the study period. In 2013, total counts of 2,129,871 were composed with general anesthesia (55%), regional anesthesia (36%) and procedural sedation with intravenous anesthetics (9%). About 80% of total cases of general anesthesia were performed in general hospitals, while more than 60% of the regional anesthesia and sedation were performed in the clinics and hospitals under 100 beds. Non-anesthesiologists performed 273,006 cases of anesthesia (13% of total) including 36,008 of general anesthesia, 143,134 of regional anesthesia, and 93,864 of sedation, mainly in the clinics and hospitals under 100 beds. All procedural sedations in the institutions without direct employed anesthesiologist were performed by non-anesthesiologists. Significant numbers of anesthesia are performed by non-anesthesiologist in Korea. To promote anesthetic services that prioritize the safety of patients, the standard to qualify anesthetic service is required. Surgeons and patients need to enhance their perception of anesthesia, and the payment system should be revised in a way that advocates anesthesiologist-performed anesthetic services.
Adult ; Aged ; Anesthesia/*statistics & numerical data ; Databases, Factual ; Female ; Humans ; Middle Aged ; National Health Programs ; Republic of Korea ; Surveys and Questionnaires

Extrapulmonary manifestations of Mycoplasma pneumoniae infection are not uncommon and involvement of every organ system has been reported. However, association of inflammatory myositis with M. pneumoniae infection is rare. Here, we describe a patient who developed polymyositis associated with mycoplasma infection, who was treated successfully with glucocorticoid, intravenous immunoglobulin, and methotrexate.
Adolescent* ; Dermatomyositis* ; Female* ; Humans ; Immunoglobulins ; Methotrexate ; Mycoplasma Infections ; Mycoplasma pneumoniae* ; Mycoplasma* ; Myositis ; Pneumonia ; Pneumonia, Mycoplasma* ; Polymyositis