Background and Objectives: Autosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2). To this end, this cohort investigation aimed to find the contribution of GJB2 gene mutations with the genotype-phenotype correlations in 45 ARNSHL cases in the Kurdish population. Subjects and Methods: Genomic DNA was extracted from a total of 45 ARNSHL families. The linkage analysis with 3 short tandem repeat markers linked to GJB2 was performed on 45 ARNSHL families. Only 9 of these families were linked to the DFNB1 locus. All the 45 families who took part were sequenced for confirmation linkage analysis (to perform a large project). Results: A total of three different mutations were determined. Two of which [c.35delG and c.-23+1G>A (IVS1+1G>A)] were previously reported but (c.299-300delAT) mutation was novel in the Kurdish population. The homozygous pathogenic mutations of GJB2 gene was observed in nine out of the 45 families (20%), also heterozygous genotype (c.35delG/N)+(c.-23+1G>A/c.-23+1G>A) were observed in 4/45 families (8.8%). The degree of hearing loss (HL) in patients with other mutations was less severe than patients with c.35delG homozygous mutation (p<0.001). Conclusions: Our data suggest that GJB2 mutations constitute 20% of the etiology of ARNSHL in Iran; moreover, the c.35delG mutation is the most common HL cause in the Kurdish population. Therefore, these mutations should be included in the molecular testing of HL in this population.
Park, Seong-Uk;Lee, In-Whan;Jung, Woo-Sang;Moon, Sang-Kwan;Park, Jung-Mi;Ko, Chang-Nam;Cho, Ki-Ho;Kim, Young-Suk;Bae, Hyung-Sup
The Journal of the Society of Stroke on Korean Medicine
/
v.9
no.1
/
pp.25-32
/
2008
Objectives : Metabolic syndrome (MetS) is associated with increasing risk of cardiovascular morbidity and mortality but the risk of stroke associated with the MetS is less well established. The objective of this study was to evaluate the prevalence of MetS in stroke patients. Methods : We analyzed the data of 806 patients with acute ischemic stroke from Hanbang Stroke Registry supported by the Ministry of Science and Technology of Korea. Subjects' enrollment was done in the oriental medical hospitals of 4 universities located in the metropolitan region from April 2007 to August 2008. We analyzed all registered data and evaluated the prevalence of MetS and specific components of MetS. Results : The prevalence of MetS in stroke patients according to American Heart Association/National Heart Lung and Blood Institute (AHA/NHLBI) criteria was 59.6%. The prevalence according to the International Diabetes Federation (IDF) criteria was 41.6%. The prevalence of female patients was higher than that of male patients (71.8% vs 51% by AHA/NHLBI criteria; 61.7% vs 27.7% by IDF criteria). The prevalence of central obesity, low HDL cholesterol and hypertension was higher in female patients. There was no significant relationship between MetS and stroke subtype. Conclusions : This work gives us the basic data on the association between MetS and risk of stroke. There should be the prospective cohort studies to evaluate MetS and the risk of stroke.
The Journal of the Society of Stroke on Korean Medicine
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v.7
no.1
/
pp.46-53
/
2006
Objectives : The purposes of this study were to investigate that a blepharospasm means the presymptom of stroke based on the traditional hypothesis in the oriental medicine and to compare a blepharospasm with warning signs of stroke in the western medicine. Methods : In the time period Oct. 2005 to Oct. 2006, 409 patients with a first-ever stroke admitted in the department of Internal Medicine of Kyungwon University In-cheon Oriental Medical Hospital, Kyunghee University Oriental Medical Hospital, Dongguk Il-san Oriental Medical Hospital were included. Patients were hospitalized within 14 days after the onset of stroke. Stroke patients were interviewed by residents who studied standard operation procedures in Fundamental Study for Standardization and Objectification of Differentiation and Pattern Identification of Syndrome of Oriental Medicine for Stroke. A questionnaire was completed by a question-and-answer form between patients and residents after explanation details to patients and the agreement of patients. Results : Age, care of patients or grandson, diabetes mellitus, and smoking were higher among cerebral infarction group, while smoking was higher among hemorrhage group. Female, young age, hyperlipidemia, hypertension in the family history and fat body in waist-hip ratio were higher among patients undergoing the blepharospasm before stroke onset. And the incidence of blepharospasm was lower in patients who dislike the fast food. Finally, when we compared a blepharospasm with warning signs of stroke in the western medicine, the incidence of blepharospasm in this study were the most frequent. Conclusion : In this study, the incidence of blepharospasm in patients before stroke onset was more frequent than that of warning signs in the western medicine. But more data from prospective cohort studies should be collected to be accepted that the blepharospasm is the presymptom of stroke as like warning signs in the western medicine.
Osman Kula;Burak Gunay;Merve Yaren Kayabas;Yener Akturk;Ezgi Kula;Banu Tutunculer;Necdet Sut;Serdar Solak
Journal of Korean Neurosurgical Society
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v.66
no.6
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pp.681-689
/
2023
Objective : Subarachnoid hemorrhage (SAH) is a condition characterized by bleeding in the subarachnoid space, often resulting from the rupture of a cerebral aneurysm. Delayed cerebral ischemia caused by vasospasm is a significant cause of mortality and morbidity in SAH patients, and inflammatory markers such as systemic inflammatory response index (SIRI), systemic inflammatory index (SII), neutrophil-to-lymphocyte ratio (NLR), and derived NLR (dNLR) have shown potential in predicting clinical vasospasm and outcomes in SAH patients. This article aims to investigate the relationship between inflammatory markers and cerebral vasospasm after aneurysmatic SAH (aSAH) and evaluate the predictive value of various indices, including SIRI, SII, NLR, and dNLR, in predicting clinical vasospasm. Methods : A retrospective analysis was performed on a cohort of 96 patients who met the inclusion criteria out of a total of 139 patients admitted Trakya University Hospital with a confirmed diagnosis of aSAH between January 2013 and December 2021. Diagnostic procedures, neurological examinations, and laboratory tests were performed to assess the patients' condition. The Student's t-test compared age variables, while the chi-square test compared categorical variables between the non-vasospasm (NVS) and vasospasm (VS) groups. Receiver operating characteristic (ROC) curve analyses were used to evaluate the diagnostic accuracy of laboratory parameters, calculating the area under the ROC curve, cut-off values, sensitivity, and specificity. A significance level of p<0.05 was considered statistically significant. Results : The study included 96 patients divided into two groups : NVS and VS. Various laboratory parameters, such as NLR, SII, and dNLR, were measured daily for 15 days, and statistically significant differences were found in NLR on 7 days, with specific cut-off values identified for each day. SII showed a significant difference on day 9, while dNLR had significant differences on days 2, 4, and 9. Graphs depicting the values of these markers for each day are provided. Conclusion : Neuroinflammatory biomarkers, when used alongside radiology and scoring scales, can aid in predicting prognosis, determining severity and treatment decisions for aSAH, and further studies with larger patient groups are needed to gain more insights.
Bong-Gyu Ryu;Si Un Lee;Hwan Seok Shim;Jeong-Mee Park;Yong Jae Lee;Young-Deok Kim;Tackeun Kim;Seung Pil Ban;Hyoung Soo Byoun;Jae Seung Bang;O-Ki Kwon;Chang Wan Oh
Journal of Korean Neurosurgical Society
/
v.66
no.6
/
pp.690-702
/
2023
Objective : To analyze the outcomes of coil embolization (CE) for unruptured intracranial aneurysm (UIA) according to region and hospital size based on National Health Insurance Service data in South Korea. Methods : The incidence of complications, including intracranial hemorrhage (ICRH) and cerebral infarction (CI), occurring within 3 months and the 1-year mortality rates in UIA patients who underwent CE in 2018 were analyzed. Hospitals were classified as tertiary referral general hospitals (TRGHs), general hospitals (GHs) or semigeneral hospitals (sGHs) according to their size, and the administrative districts of South Korea were divided into 15 regions. Results : In 2018, 8425 (TRGHs, 4438; GHs, 3617; sGHs, 370) CEs were performed for UIAs. Complications occurred in 5.69% of patients seen at TRGHs, 13.48% at GHs, and 20.45% at sGHs. The complication rate in TRGHs was significantly lower than that in GHs (p=0.039) or sGHs (p=0.005), and that in GHs was significantly lower than that in sGHs (p=0.030). The mortality rates in TRGHs, GHs, and sGHs were 0.81%, 2.16%, and 3.92%, respectively, with no significant difference. Despite no significant difference in the mortality rates, the complication rate significantly increased as the number of CE procedures per hospital decreased (p=0.001; rho=-0.635). Among the hospitals where more than 30 CEs were performed for UIAs, the incidence of CIs (p=0.096, rho=-0.205) and the mortality rates (3 months, p=0.048, rho=-0.243; 1 year, p=0.009, rho=-0.315) significantly decreased as the number of CEs that were performed increased and no significant difference in the incidence of post-CE ICRH was observed. Conclusion : The complication rate in patients who underwent CE for UIA increased as the hospital size and physicians' experience in conducting CEs decreased. We recommend nationwide quality control policies CEs for UIAs.
Purpose: "Hallux valgus" is a common disease encountered in clinical practice and is accompanied by foot deformities. Conservative treatment is commonly used in the early stages of hallux valgus. On the other hand, surgical treatment often becomes necessary as the deformity progresses. Surgical treatments involve various osteotomy methods or joint fusion procedures combined with soft tissue release, and outcomes from these surgical treatments are generally favorable. This study compared two soft tissue release techniques in the hallux region. Materials and Methods: This study conducted a retrospective cohort study on 48 participants who underwent surgical treatment for hallux valgus at a single institution from March 1, 2018, to March 31, 2023. A scarf osteotomy was performed in all cases, and the "Modified Mcbride procedure" or "Trans-articular approach" was done for soft tissue release. Hallux valgus angle (HVA), intermetatarsal angle (IMA), and the degree of subluxation of the lateral sesamoid were measured through simple foot radiographs taken before surgery and one year after surgery. Results: In the Modified Mcbride procedure group, HVA, IMA, and the sesamoid position grade decreased from 34.94° to 9.98°, 15.64° to 5.44°, and 2.47 to 0.44, respectively. In the trans-articular approach group, HVA, IMA, and the sesamoid position grade decreased from 33.42° to 7.34°, 15.06° to 6.03°, and 2.17 to 0.58, respectively. There was no significant difference in these changes between the preoperative and one-year postoperative measurements for both techniques (p-value>0.05). Conclusion: A radiological assessment of soft tissue release through the Modified Mcbride procedure and trans-articular approach in hallux valgus did not show significant differences. Therefore, both surgical techniques can be considered in the distal soft tissue release for a hallux valgus correction.
Ji Hye Kwon;Seung Soo Lee;Jee Seok Yoon;Heung-Il Suk;Yu Sub Sung;Ho Sung Kim;Chul-min Lee;Kang Mo Kim;So Jung Lee;So Yeon Kim
Korean Journal of Radiology
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v.22
no.12
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pp.1985-1995
/
2021
Objective: Although the liver-to-spleen volume ratio (LSVR) based on CT reflects portal hypertension, its prognostic role in cirrhotic patients has not been proven. We evaluated the utility of LSVR, automatically measured from CT images using a deep learning algorithm, as a predictor of hepatic decompensation and transplantation-free survival in patients with hepatitis B viral (HBV)-compensated cirrhosis. Materials and Methods: A deep learning algorithm was used to measure the LSVR in a cohort of 1027 consecutive patients (mean age, 50.5 years; 675 male and 352 female) with HBV-compensated cirrhosis who underwent liver CT (2007-2010). Associations of LSVR with hepatic decompensation and transplantation-free survival were evaluated using multivariable Cox proportional hazards and competing risk analyses, accounting for either the Child-Pugh score (CPS) or Model for End Stage Liver Disease (MELD) score and other variables. The risk of the liver-related events was estimated using Kaplan-Meier analysis and the Aalen-Johansen estimator. Results: After adjustment for either CPS or MELD and other variables, LSVR was identified as a significant independent predictor of hepatic decompensation (hazard ratio for LSVR increase by 1, 0.71 and 0.68 for CPS and MELD models, respectively; p < 0.001) and transplantation-free survival (hazard ratio for LSVR increase by 1, 0.8 and 0.77, respectively; p < 0.001). Patients with an LSVR of < 2.9 (n = 381) had significantly higher 3-year risks of hepatic decompensation (16.7% vs. 2.5%, p < 0.001) and liver-related death or transplantation (10.0% vs. 1.1%, p < 0.001) than those with an LSVR ≥ 2.9 (n = 646). When patients were stratified according to CPS (Child-Pugh A vs. B-C) and MELD (< 10 vs. ≥ 10), an LSVR of < 2.9 was still associated with a higher risk of liver-related events than an LSVR of ≥ 2.9 for all Child-Pugh (p ≤ 0.045) and MELD (p ≤ 0.009) stratifications. Conclusion: The LSVR measured on CT can predict hepatic decompensation and transplantation-free survival in patients with HBV-compensated cirrhosis.
June-Goo Lee;HeeSoo Kim;Heejun Kang;Hyun Jung Koo;Joon-Won Kang;Young-Hak Kim;Dong Hyun Yang
Korean Journal of Radiology
/
v.22
no.11
/
pp.1764-1776
/
2021
Objective: This study aimed to validate a deep learning-based fully automatic calcium scoring (coronary artery calcium [CAC]_auto) system using previously published cardiac computed tomography (CT) cohort data with the manually segmented coronary calcium scoring (CAC_hand) system as the reference standard. Materials and Methods: We developed the CAC_auto system using 100 co-registered, non-enhanced and contrast-enhanced CT scans. For the validation of the CAC_auto system, three previously published CT cohorts (n = 2985) were chosen to represent different clinical scenarios (i.e., 2647 asymptomatic, 220 symptomatic, 118 valve disease) and four CT models. The performance of the CAC_auto system in detecting coronary calcium was determined. The reliability of the system in measuring the Agatston score as compared with CAC_hand was also evaluated per vessel and per patient using intraclass correlation coefficients (ICCs) and Bland-Altman analysis. The agreement between CAC_auto and CAC_hand based on the cardiovascular risk stratification categories (Agatston score: 0, 1-10, 11-100, 101-400, > 400) was evaluated. Results: In 2985 patients, 6218 coronary calcium lesions were identified using CAC_hand. The per-lesion sensitivity and false-positive rate of the CAC_auto system in detecting coronary calcium were 93.3% (5800 of 6218) and 0.11 false-positive lesions per patient, respectively. The CAC_auto system, in measuring the Agatston score, yielded ICCs of 0.99 for all the vessels (left main 0.91, left anterior descending 0.99, left circumflex 0.96, right coronary 0.99). The limits of agreement between CAC_auto and CAC_hand were 1.6 ± 52.2. The linearly weighted kappa value for the Agatston score categorization was 0.94. The main causes of false-positive results were image noise (29.1%, 97/333 lesions), aortic wall calcification (25.5%, 85/333 lesions), and pericardial calcification (24.3%, 81/333 lesions). Conclusion: The atlas-based CAC_auto empowered by deep learning provided accurate calcium score measurement as compared with manual method and risk category classification, which could potentially streamline CAC imaging workflows.
Pyeong Hwa Kim;Minjae Kim;Chong Hyun Suh;Sae Rom Chung;Ji Eun Park;Soo Chin Kim;Young Jun Choi;Young Jun Choi;Ho Sung Kim;Jung Hwan Baek;Choong Gon Choi;Sang Joon Kim
Korean Journal of Radiology
/
v.22
no.11
/
pp.1875-1885
/
2021
Objective: Central nervous system involvement in coronavirus disease 2019 (COVID-19) has been increasingly reported. We performed a systematic review and meta-analysis to evaluate the incidence of radiologically demonstrated neurologic complications and detailed neuroimaging findings associated with COVID-19. Materials and Methods: A systematic literature search of MEDLINE/PubMed and EMBASE databases was performed up to September 17, 2020, and studies evaluating neuroimaging findings of COVID-19 using brain CT or MRI were included. Several cohort-based outcomes, including the proportion of patients with abnormal neuroimaging findings related to COVID-19 were evaluated. The proportion of patients showing specific neuroimaging findings was also assessed. Subgroup analyses were also conducted focusing on critically ill COVID-19 patients and results from studies that used MRI as the only imaging modality. Results: A total of 1394 COVID-19 patients who underwent neuroimaging from 17 studies were included; among them, 3.4% of the patients demonstrated COVID-19-related neuroimaging findings. Olfactory bulb abnormalities were the most commonly observed (23.1%). The predominant cerebral neuroimaging finding was white matter abnormality (17.6%), followed by acute/subacute ischemic infarction (16.0%), and encephalopathy (13.0%). Significantly more critically ill patients had COVID-19-related neuroimaging findings than other patients (9.1% vs. 1.6%; p = 0.029). The type of imaging modality used did not significantly affect the proportion of COVID-19-related neuroimaging findings. Conclusion: Abnormal neuroimaging findings were occasionally observed in COVID-19 patients. Olfactory bulb abnormalities were the most commonly observed finding. Critically ill patients showed abnormal neuroimaging findings more frequently than the other patient groups. White matter abnormalities, ischemic infarctions, and encephalopathies were the common cerebral neuroimaging findings.
Eun Kyoung Kim;Ga Yeon Lee;Shin Yi Jang;Sung-A Chang;Sung Mok Kim;Sung-Ji Park;Jin-Oh Choi;Seung Woo Park;Yeon Hyeon Choe;Sang-Chol Lee;Jae K. Oh
Korean Journal of Radiology
/
v.22
no.3
/
pp.324-333
/
2021
Objective: The clinical course of an individual patient with heart failure is unpredictable with left ventricle ejection fraction (LVEF) only. We aimed to evaluate the prognostic value of cardiac magnetic resonance (CMR)-derived myocardial fibrosis extent and to determine the cutoff value for event-free survival in patients with non-ischemic cardiomyopathy (NICM) who had severely reduced LVEF. Materials and Methods: Our prospective cohort study included 78 NICM patients with significantly reduced LV systolic function (LVEF < 35%). CMR images were analyzed for the presence and extent of late gadolinium enhancement (LGE). The primary outcome was major adverse cardiac events (MACEs), defined as a composite of cardiac death, heart transplantation, implantable cardioverter-defibrillator discharge for major arrhythmia, and hospitalization for congestive heart failure within 5 years after enrollment. Results: A total of 80.8% (n = 63) of enrolled patients had LGE, with the median LVEF of 25.4% (19.8-32.4%). The extent of myocardial scarring was significantly higher in patients who experienced MACE than in those without any cardiac events (22.0 [5.5-46.1] %LV vs. 6.7 [0-17.1] %LV, respectively, p = 0.008). During follow-up, 51.4% of patients with LGE ≥ 12.0 %LV experienced MACE, along with 20.9% of those with LGE ≤ 12.0 %LV (log-rank p = 0.001). According to multivariate analysis, LGE extent more than 12.0 %LV was independently associated with MACE (adjusted hazard ratio, 6.71; 95% confidence interval, 2.54-17.74; p < 0.001). Conclusion: In NICM patients with significantly reduced LV systolic function, the extent of LGE is a strong predictor for long-term adverse cardiac outcomes. Event-free survival was well discriminated with an LGE cutoff value of 12.0 %LV in these patients.
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