Background: and Purpose The accurate prediction of functional outcomes in patients with acute ischemic stroke (AIS) is crucial for informed clinical decision-making and optimal resource utilization. As such, this study aimed to construct an ensemble deep learning model that integrates multimodal imaging and clinical data to predict the 90-day functional outcomes after AIS. Methods: We used data from the Korean Stroke Neuroimaging Initiative database, a prospective multicenter stroke registry to construct an ensemble model integrated individual 3D convolutional neural networks for diffusion-weighted imaging and fluid-attenuated inversion recovery (FLAIR), along with a deep neural network for clinical data, to predict 90-day functional independence after AIS using a modified Rankin Scale (mRS) of 3–6. To evaluate the performance of the ensemble model, we compared the area under the curve (AUC) of the proposed method with that of individual models trained on each modality to identify patients with AIS with an mRS score of 3–6. Results: Of the 2,606 patients with AIS, 993 (38.1%) achieved an mRS score of 3–6 at 90 days post-stroke. Our model achieved AUC values of 0.830 (standard cross-validation [CV]) and 0.779 (time-based CV), which significantly outperformed the other models relying on single modalities: b-value of 1,000 s/mm2 (P<0.001), apparent diffusion coefficient map (P<0.001), FLAIR (P<0.001), and clinical data (P=0.004). Conclusion The integration of multimodal imaging and clinical data resulted in superior prediction of the 90-day functional outcomes in AIS patients compared to the use of a single data modality.

Background: and purpose Whether pharmacologically altered high-density lipoprotein cholesterol (HDL-C) affects the risk of cardiovascular events is unknown. Recently, we have reported the Prevention of Cardiovascular Events in Asian Patients with Ischaemic Stroke at High Risk of Cerebral Haemorrhage (PICASSO) trial that demonstrated the non-inferiority of cilostazol to aspirin and superiority of probucol to non-probucol for cardiovascular prevention in ischemic stroke patients (clinicaltrials.gov: NCT01013532). We aimed to determine whether on-treatment HDL-C changes by cilostazol and probucol influence the treatment effect of each study medication during the PICASSO study. Methods: Of the 1,534 randomized patients, 1,373 (89.5%) with baseline cholesterol parameters were analyzed. Efficacy endpoint was the composite of stroke, myocardial infarction, and cardiovascular death. Cox proportional hazards regression analysis examined an interaction between the treatment effect and changes in HDL-C levels from randomization to 1 month for each study arm. Results: One-month post-randomization mean HDL-C level was significantly higher in the cilostazol group than in the aspirin group (1.08 mmol/L vs. 1.00 mmol/L, P<0.001). The mean HDL-C level was significantly lower in the probucol group than in the non-probucol group (0.86 mmol/L vs. 1.22 mmol/L, P<0.001). These trends persisted throughout the study. In both study arms, no significant interaction was observed between HDL-C changes and the assigned treatment regarding the risk of the efficacy endpoint. Conclusions Despite significant HDL-C changes, the effects of cilostazol and probucol treatment on the risk of cardiovascular events were insignificant. Pharmacologically altered HDL-C levels may not be reliable prognostic markers for cardiovascular risk.

Communicating bronchopulmonary foregut malformation (CBPFM) is a communication between the respiratory and gastrointestinal tracts that can be difficult to differentiate from pulmonary sequestration or H-type tracheoesophageal fistula (TEF) because of the similarities in clinical features. A female neonate born at full term had been experiencing respiratory difficulty during feeding from the third day of life. The esophagography performed to rule out H-type TEF revealed that the esophageal bronchus directly communicated with the left lower lobe (LLL) of the lung. Lobectomy of the LLL, fistulectomy of the esophagobronchial fistula, and primary repair of the esophagus were performed. Finally, CBPFM type III with pulmonary sequestration was confirmed on the basis of the postoperative histopathological finding. We report the first newborn case of CBPFM type III with pulmonary sequestration in Korea.
Bronchi ; Bronchial Fistula ; Bronchopulmonary Sequestration ; Esophagus ; Female ; Fistula ; Gastrointestinal Tract ; Humans ; Infant, Newborn ; Korea ; Lung ; Tracheoesophageal Fistula

OBJECTIVE: Syncope is mostly benign, but it can also be caused by a life-threatening situation. In Korea, no studies have investigated application of the Canadian Syncope Risk Score (CSRS) to patients with syncope; therefore, this study was started to evaluate the usefulness of CSRS. METHODS: A total of 222 patients who visited the emergency room with syncope for one year from January 2016 to December 2016 were enrolled in this study. Patients were divided into two groups, a serious adverse events (SAE) group and a non-serious adverse events group. The scores of the nine CSRS variables were added and the CSRS was then calculated after the addition. RESULTS: The CSRS score for patients with SAE ranged from 0 to 8. The CSRS score was 18.6%, 31.7%, 55.6%, and 58.8% for 0, 1, 2, and 3, respectively. In the case of CSRS 0 and 1, 17 patients (81.0%) and 11 patients (84.6%) were non-cardiac. In the case of CSRS 2, 7 were non-cardiac (70.0%). In the case of CSRS 3, 6 cases (60.0%) were cardiogenic and 4 cases (40.0%) were non-cardiogenic. The area under the receiver operating characteristic curve of CSRS to predict SAE was 0.71. Setting the CSRS cutoff value to 0, we found that sensitivity and specificity of predicting SAE was 67.19% and 67.09%, respectively. CONCLUSION: CSRS may be difficult to predict for acute intracranial disease or acute hemorrhagic disease requiring transfusion; therefore, it is necessary to supplement it further.
Emergencies* ; Emergency Service, Hospital ; Humans ; Korea* ; Risk Factors ; ROC Curve ; Sensitivity and Specificity ; Syncope*

We found that non-small-cell lung cancer (NSCLC) cells express high levels of multiple aldehyde dehydrogenase (ALDH) isoforms via an informatics analysis of metabolic enzymes in NSCLC and immunohistochemical staining of NSCLC clinical tumor samples. Using a multiple reaction-monitoring mass spectrometry analysis, we found that multiple ALDH isozymes were generally abundant in NSCLC cells compared with their levels in normal IMR-90 human lung cells. As a result of the catalytic reaction mediated by ALDH, NADH is produced as a by-product from the conversion of aldehyde to carboxylic acid. We hypothesized that the NADH produced by ALDH may be a reliable energy source for ATP production in NSCLC. This study revealed that NADH production by ALDH contributes significantly to ATP production in NSCLC. Furthermore, gossypol, a pan-ALDH inhibitor, markedly reduced the level of ATP. Gossypol combined with phenformin synergistically reduced the ATP levels, which efficiently induced cell death following cell cycle arrest.
Adenosine Triphosphate ; Aldehyde Dehydrogenase* ; Cell Cycle Checkpoints ; Cell Death ; Energy Metabolism* ; Gossypol ; Humans ; Informatics ; Isoenzymes ; Lung ; Lung Neoplasms ; Mass Spectrometry ; NAD ; Phenformin ; Protein Isoforms

BACKGROUND AND OBJECTIVES: We evaluated the two-year clinical outcomes in patients with angiographically intermediate lesions according to the plaque burden and treatment strategy. SUBJECTS AND METHODS: We prospectively enrolled patients with angiographically intermediate lesions (diameter stenosis 30-70%) with an intravascular ultrasound (IVUS) minimum lumen area (MLA) <4 mm2 with 50-70% plaque burden of 16 Korean percutaneous coronary intervention centers. Patients were divided into medical therapy group (n=85) and zotarolimus-eluting stent group (ZES; Resolute) group (n=74). We evaluated the incidences of two-year major adverse cardiovascular events (MACE). RESULTS: A two-year clinical follow-up was completed in 143 patients and MACE occurred in 12 patients. There were no significant differences in the incidences of death (1.3% vs. 3.0%, p=0.471), target vessel-related non-fatal myocardial infarction (0.0% vs. 0.0%, p=1.000) and target vessel revascularizations (7.8% vs. 4.5%, p=0.425) between medical and ZES groups. Independent predictors of two-year MACE included acute myocardial infarction {odds ratio (OR)=2.87; 95% confidence interval (CI) 1.43-6.12, p=0.014}, diabetes mellitus (OR=2.46; 95% CI 1.24-5.56, p=0.028) and non-statin therapy (OR=2.32; 95% CI 1.18-5.24, p=0.034). CONCLUSION: Medical therapy shows comparable results with ZES, and myocardial infarction, diabetes mellitus and non-statin therapy were associated with the occurrence of two-year MACE in patients with intermediate lesion with IVUS MLA <4 mm2 with 50-70% of plaque burden.
Constriction, Pathologic ; Coronary Artery Disease ; Coronary Stenosis* ; Diabetes Mellitus ; Follow-Up Studies ; Humans ; Incidence ; Myocardial Infarction ; Percutaneous Coronary Intervention ; Plaque, Atherosclerotic ; Prospective Studies ; Research Personnel* ; Stents ; Ultrasonography ; Ultrasonography, Interventional

Compared with biochemical information available about the diseases in the central nervous system, that for peripheral neuropathy is quite limited primarily due to the difficulties in obtaining samples. Characterization of the core pathology is a prerequisite to the development of personalized medicine for genetically heterogeneous diseases, such as hereditary motor and sensory neuropathy (HMSN). Here, we first documented the transcriptome profile of distal sural nerve obtained from HMSN patients. RNA-seq analysis revealed that over 12,000 genes are expressed in distal sural nerve. Among them 4,000 transcripts are novel and 10 fusion genes per sample were observed. Comparing dataset from whole exome sequencing revealed that over 1,500 transcriptional base modifications occur during transcription. These data implicate that dynamic alterations are generated when genetic information are transitioned in distal sural nerve. Although, we could not find significant alterations associated with HMSN, these data might provide crucial information about the pathophysiology of HMSN. Therefore, next step in the development of therapeutic strategy for HMSN might be unveiling biochemical and biophysical abnormalities derived from those potent variation.
Central Nervous System ; Dataset ; Exome ; Gene Expression Profiling* ; Hereditary Sensory and Motor Neuropathy ; Humans ; Pathology ; Peripheral Nervous System Diseases ; Sural Nerve* ; Transcriptome ; Precision Medicine

BACKGROUND: X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is caused by mutations in the gene encoding phosphoribosyl pyrophosphate synthetase I (PRPS1). There has been only one case report of CMTX5 patients. The aim of this study was to identify the causative gene in a family with CMTX with peripheral neuropathy and deafness. CASE REPORT: A Korean family with X-linked recessive CMT was enrolled. The age at the onset of hearing loss of the male proband was 5 months, and that of steppage gait was 6 years; he underwent cochlear surgery at the age of 12 years. In contrast to what was reported for the first patients with CMTX5, this patient did not exhibit optic atrophy. Furthermore, there was no cognitive impairment, respiratory dysfunction, or visual disturbance. Assessment of his family history revealed two male relatives with very similar clinical manifestations. Electrophysiological evaluations disclosed sensorineural hearing loss and peripheral neuropathy. Whole-exome sequencing identified a novel p.Ala121Gly (c.362C>G) PRPS1 mutation as the underlying genetic cause of the clinical phenotype. CONCLUSIONS: A novel mutation of PRPS1 was identified in a CMTX5 family in which the proband had a phenotype of peripheral neuropathy with early-onset hearing loss, but no optic atrophy. The findings of this study will expand the clinical spectrum of X-linked recessive CMT and will be useful for the molecular diagnosis of clinically heterogeneous peripheral neuropathies.
Charcot-Marie-Tooth Disease ; Deafness ; Diphosphates ; Exome* ; Gait ; Hearing Loss ; Hearing Loss, Sensorineural ; Humans ; Male ; Optic Atrophy* ; Peripheral Nervous System Diseases ; Phenotype ; Ribose-Phosphate Pyrophosphokinase

Enteropathy-type T-cell lymphoma (ETL) or enteropathy-associated T-cell lymphoma is a very rare malignant intestinal tumor. ETL is usually diagnosed by surgery. Endoscopic findings of ETL are not well known, and there are few reports of findings from endoscopy that has been performed only using white light. Additionally, there are no definite treatment guidelines for ETL. Therefore, we report a case of ETL diagnosed by enteroscopy with imaging-enhanced endoscopy and also review recently developed treatment options.
Endoscopy ; Enteropathy-Associated T-Cell Lymphoma ; Humans ; Light ; Lymphoma, T-Cell ; T-Lymphocytes

BACKGROUND AND PURPOSE: Stroke requires consistent care, but there is concern over the "weekend effect", whereby a weekend admission results in a poor outcome. Our aim was to determine the impact of weekend admission on clinical outcomes in patients with acute ischemic stroke in Korea. METHODS: The outcomes of patients admitted on weekdays and weekends were compared by analyzing data from a prospective outcome registry enrolling 1247 consecutive patients with acute ischemic stroke admitted to four neurology training hospitals in South Korea between September 2004 and August 2005. The primary outcome was a poor functional outcome at 3 months, defined as modified Rankin Scale (mRS) of 3-6. Secondary outcomes were 3-month mortality, use of thrombolysis, complication rate, and length of hospitalization. Shift analysis was also performed to compare overall mRS distributions. RESULTS: On weekends, 334 (26.8%) patients were admitted. Baseline characteristics were comparable between the weekday and weekend groups except for more history of heart disease and shorter admission time in weekend group. Univariate analysis revealed poor functional outcome at 3 months, 3-month mortality, complication rate, and length of hospitalization did not differ between the two groups. In addition, overall mRS distributions were comparable (p=0.865). After adjusting for baseline factors and stroke severity, weekend admission was not associated with poor functional outcome at 3 months (adjusted odds ratio, 1.05; 95% CI, 0.74-1.50). Furthermore, none of secondary endpoints differed between the two groups in multivariate analysis. CONCLUSIONS: Weekend admission was not associated with poor functional outcome than weekday admission in patients with acute ischemic stroke in this study. The putative weekend effect should be explored further by considering a wider range of hospital settings and hemorrhagic stroke.
Heart Diseases ; Hospitalization ; Humans ; Neurology ; Odds Ratio ; Prospective Studies ; Republic of Korea ; Stroke