Yung-Chuan Huang

Objective: This study was undertaken to evaluate the predictive, stratification, and prognostic utility of polygenic risk scores (PRSs) for epilepsy in three Taiwanese cohorts comprising more than 7000 cases among more than 600 000 individuals, thereby addressing the limited evidence on PRS performance in non‐European populations. Methods: Leveraging results from the latest multiancestry genome‐wide association study (GWAS), we calculated PRS for all epilepsy, genetic generalized epilepsy (GGE), and focal epilepsy (FE) in two population cohorts—Taiwan Biobank–National Health Insurance Research Database (TWB‐NHIRD; N ~ 105 K) and Taiwan Precision Medicine Initiative (TPMI; N ~ 500 K), with cases defined by International Classification of Diseases codes and medications—and a clinically ascertained sample (Taiwanese subset of the Epi25 consortium [Epi25‐TWN]; N = 1140). PRS performance was assessed through lifetime risk models, age‐at‐onset stratifications, and phenome‐wide association studies (PheWASs). Results: PRS performance varied substantially by cohort, epilepsy type, and age at onset. GGE PRS had the strongest effect on GGE in Epi25‐TWN (per‐unit odds ratio [OR] = 1.65 [95% confidence interval (CI) = 1.24–2.23], p = 8.3 × 10 ⁻⁴ , R ² = 3.2%) but a weaker effect in TWB‐NHIRD and TPMI (ORs = 1.09–1.13 [95% CI = .98–1.23], p = .002–.057, R ² = .14%–.22%). FE PRS effects on FE were more consistent but modest (ORs = 1.02–1.16 [95% CI = .97–1.33]). No prognostic value of PRS was found in predicting epilepsy from syncope or unspecified seizures. Individuals in the top 5% GGE PRS had >4‐fold increased risk in Epi25‐TWN but <1.5‐fold in the others. Restricting to earlier onset cases strengthened PRS signals in population cohorts, particularly for GGE, with PheWAS analysis revealing epilepsy‐specific associations. PRS effects were generally comparable but attenuated relative to European studies. Significance: Cohort design and phenotyping accuracy strongly influence the assessment of the predictive value of epilepsy PRS, highlighting caution in clinical interpretation. Incorporating richer phenotypic data and more diverse GWASs will be crucial to enhancing its applicability and clinical potential.

BACKGROUND: Intracranial atherosclerotic ischemic stroke often involves plaques without luminal stenosis. Existing imaging techniques struggle to detect vessel wall pathology effectively. This study evaluates short–echo time susceptibility-weighted imaging magnitude images (STE-MI) for identifying cerebral microbleeds and reducing artifacts around the basilar artery (BA) compared with susceptibility-weighted angiography (SWAN), enabling its application in detecting BA wall pathology in acute isolated pontine infarction, particularly in patients with nonstenotic noncardioembolic disease. METHODS: This study presents a retrospective analysis of an ongoing prospective observational brain vascular imaging study focused on intracranial atherosclerosis in patients with acute ischemic stroke. Conducted from March 2022 to March 2025, imaging was performed using a 3.0 T magnetic resonance imaging scanner with advanced protocols, including SWAN and STE-MI sequences. The study evaluated cerebral microbleed detection, artifact reduction, and vessel wall imaging quality, with interobserver agreement assessed using Cohen κ . Clinical data, including risk factors and demographic information, were analyzed alongside imaging findings. RESULTS: Among 33 subjects, STE-MI detected 86% of the microbleeds identified by SWAN, with excellent interobserver agreement (Cohen κ =0.828). Blooming artifacts around the BA were minimized in 96.9% of 2475 cases using STE-MI, compared with only 5.5% with SWAN ( P =3.469×10 ⁻¹⁸ ). Of the 16 patients with nonstenotic noncardioembolism with isolated pontine infarction, 12 were male, with a mean age of 68.1 years (SD=7.7). Among these patients, 10 (62.5%) exhibited extraluminal BA pathology on STE-MI (mixed hypo-/intermediate intensity in 6 cases, hypointensity in 4 cases), correlating with diffusion-weighted imaging lesion locations (Cohen κ =0.833). Univariate logistic regression analysis identified triglycerides ( P =0.033) and smoking ( P =0.041) as significant risk factors. CONCLUSIONS: STE-MI effectively minimizes artifacts and detects BA wall pathology in acute isolated pontine infarction, particularly in nonstenotic noncardioembolic stroke. This approach may enhance the identification of culprit lesions, potentially improving risk stratification and guiding targeted therapeutic strategies.

Background and Objectives: Dementia is an essential neurodegenerative disease with pathologic changes in the central nervous system, but also the retina. To evaluate the diagnostic performance of Spectralis optical coherence tomography (OCT) parameters for mild cognitive impairment (MCI) and mild dementia in an Asian population from Taiwan. Methods: This retrospective cross-sectional study evaluated 43 patients with MCI (mean deviation [MD]: −5.05 ± 4.25 dB), 13 patients with mild dementia (MD: −9.03 ± 6.66 dB), and 32 healthy controls (MD: −2.50 ± 2.12 dB). OCT was performed on both eyes of each subject. The diagnostic sensitivity in identifying individuals with cognitive impairment of the Spectralis OCT parameters—such as those of the optic nerve head and macula—was compared across these groups. The area under the receiver operating characteristic curve (AUC) for each parameter was calculated to assess its sensitivity in differentiating between healthy eyes and those of individuals with MCI or mild dementia. Results: Among the parameters evaluated, the Bruch’s membrane opening minimum rim width (BMO-MRW) nasal inferior region (ACU = 0.720) was the optimal parameter for distinguishing individuals with MCI from healthy controls. However, the highest AUC of 0.861 was achieved through a combination of five parameters. In distinguishing individuals with mild dementia from healthy controls, the BMO-MRW temporal superior region (ACU = 0.764) was the optimal parameter, with an AUC of 0.940 after adjusting for age and MD. Moreover, the condition of the macular nerve fiber layer outer inferior parameter moderately predicted disease progression (AUC = 0.713). Conclusions: Our preliminary data demonstrate that Spectralis OCT shows potential in detecting MCI and mild dementia as well as for assessing disease progression in a Taiwanese population. Additional large-scale longitudinal and multiracial studies are essential to validate these findings.

OBJECTIVES: To evaluate the diagnostic performance of Spectralis optical coherence tomography (OCT) parameters for mild cognitive impairment (MCI) and mild dementia in an Asian population from Taiwan. METHODS: This retrospective cross-sectional study evaluated 43 patients with MCI (mean deviation [MD]: −5.05 ± 4.25 dB), 13 patients with mild dementia (MD: −9.03 ± 6.66 dB), and 32 healthy controls (MD: −2.50 ± 2.12 dB). The diagnostic sensitivity in identifying individuals with cognitive impairment of the Spectralis OCT parameters—such as those of the optic nerve head and macula—was compared across these groups. The area under the receiver operating characteristic curve (AUC) for each parameter was calculated to assess its sensitivity in differentiating between healthy eyes and those of individuals with MCI or mild dementia. RESULTS: Among the parameters evaluated, the Bruch’s membrane opening minimum rim width (BMO-MRW) nasal inferior region (ACU = 0.720) was the optimal parameter for distinguishing individuals with MCI from healthy controls. However, the highest AUC of 0.861 was achieved through a combination of five parameters. In distinguishing individuals with mild dementia from healthy controls, the BMO-MRW temporal superior region (ACU = 0.764) was the optimal parameter, with an AUC of 0.940 after adjusting for age and MD. Moreover, the condition of the macular nerve fiber layer outer inferior parameter moderately predicted disease progression (AUC = 0.713). CONCLUSIONS: Our real-world data demonstrate that Spectralis OCT measurements can detect MCI and mild dementia and predict disease progression.

Background and Purpose: Intracranial atherosclerosis is a significant contributor to ischemic stroke, often through plaques without luminal stenosis. Current imaging techniques struggle to detect vessel wall pathology effectively. This study evaluates short-TE susceptibility-weighted imaging magnitude images (STE-MI) for identifying cerebral microbleeds and basilar artery (BA) wall changes in acute isolated pontine infarction, with reduced artifacts compared to SWAN. Methods: In this post hoc analysis, 2,475 brain MR exams conducted between March 2022 and March 2025 using a 3.0 T scanner compared STE-MI (TE=7.2 ms) with SWAN for microbleed detection and BA artifact reduction. Among 131 patients with acute posterior circulation stroke (January 2023–April 2025), vessel wall pathology was assessed in 92 patients with vertebrobasilar stenosis (VBASO) and 39 with non-stenotic non-cardioembolic (NSNCE) stroke using STE-MI. Interobserver agreement and comparative statistics were analyzed. Results: STE-MI detected 86% of microbleeds identified by SWAN in 33 subjects (Cohen’s kappa=0.828 for interobserver agreement). Blooming artifacts around the BA were reduced in 96.9% of 2,475 cases with STE-MI compared to 5.5% with SWAN. In the NSNCE group, 10 of 16 patients with isolated pontine infarction exhibited extraluminal BA pathology on STE-MI (mixed hypo-/intermediate intensity in 6, hypointensity in 4), correlating with diffusion-weighted imaging (DWI) lesions. Conclusions: STE-MI effectively minimizes artifacts and detects BA wall pathology in acute isolated pontine infarction, particularly in NSNCE stroke. This approach may enhance the identification of culprit lesions, potentially improving risk stratification and guiding targeted therapies.

The new generation of nonvitamin K antagonists are broadly applied for stroke prevention due to their notable efficacy and safety. Our study aimed to develop a suggestive utilization of dabigatran through an integrated machine learning (ML) decision-tree model. Participants taking different doses of dabigatran in the Randomized Evaluation of Long-Term Anticoagulant Therapy trial were included in our analysis and defined as the 110 mg and 150 mg groups. The proposed scheme integrated ML methods, namely naive Bayes, random forest (RF), classification and regression tree (CART), and extreme gradient boosting (XGBoost), which were used to identify the essential variables for predicting vascular events in the 110 mg group and bleeding in the 150 mg group. RF (0.764 for 110 mg; 0.747 for 150 mg) and XGBoost (0.708 for 110 mg; 0.761 for 150 mg) had better area under the receiver operating characteristic curve (AUC) values than logistic regression (benchmark model; 0.683 for 110 mg; 0.739 for 150 mg). We then selected the top ten important variables as internal nodes of the CART decision tree. The two best CART models with ten important variables output tree-shaped rules for predicting vascular events in the 110 mg group and bleeding in the 150 mg group. Our model can be used to provide more visualized and interpretable suggestive rules to clinicians managing NVAF patients who are taking dabigatran.

Our study aims to develop an effective integrated machine learning (ML) scheme to predict vascular events and bleeding in patients with nonvalvular atrial fibrillation taking dabigatran and identify important risk factors. This study is a post-hoc analysis from the Randomized Evaluation of Long-Term Anticoagulant Therapy trial database. One traditional prediction method, logistic regression (LGR), and four ML techniques—naive Bayes, random forest (RF), classification and regression tree, and extreme gradient boosting (XGBoost)—were combined to construct our scheme. Area under the receiver operating characteristic curve (AUC) of RF (0.780) and XGBoost (0.717) was higher than that of LGR (0.674) in predicting vascular events. In predicting bleeding, AUC of RF (0.684) and XGBoost (0.618) showed higher values than those generated by LGR (0.605). Our integrated ML feature selection scheme based on the two convincing prediction techniques identified age, history of congestive heart failure and myocardial infarction, smoking, kidney function, and body mass index as major variables of vascular events; age, kidney function, smoking, bleeding history, concomitant use of specific drugs, and dabigatran dosage as major variables of bleeding. ML is an effective data analysis algorithm for solving complex medical data. Our results may provide preliminary direction for precision medicine.

Nonvalvular atrial fibrillation (NVAF) and carotid stenosis are important risk factors for stroke. Carotid angioplasty and stent placement (CAS) is recommended for patients with symptomatic high-grade carotid stenosis. The optimal medical management for patients with NVAF after CAS remains unclear. We aimed to clarify this issue using real-world data from the Taiwanese National Health Insurance Research Database (NHIRD). In total, 2116 consecutive NVAF patients who received CAS between January 1, 2010, and December 31, 2016, from NHIRD were divided into groups based on post-procedure medication as follows: only antiplatelet agent (OAP, n = 587); only anticoagulation agent (OAC, n = 477); dual antiplatelet agents (DAP, n = 49); and a combination of antiplatelet and anticoagulation agents (CAPAC, n = 304). Mortality, vascular events, and major bleeding episodes were compared after matching with the Charlson comorbidity index and CHA2DS2-VASc score. The CAPAC and the OAC groups had lower mortality rates than the OAP group (P = 0.0219), with no statistical differences in major bleeding, ischemic stroke, or vascular events. Conclusively, OAC therapy after CAS appears suitable for NVAF patients. CAPAC therapy might be considered as initial therapy or when there is concern about vascular events.

Non-valvular atrial fibrillation (NVAF) and carotid stenosis are important risk factors for stroke. Carotid angioplasty and stent placement (CAS) is recommended for patients with symptomatic high-grade carotid stenosis. The optimal medical management for patients with NVAF after CAS remains unclear. We aimed to clarify this issue using real-world data from the Taiwanese National Health Insurance Research Database (NHIRD). A total of 2116 NVAF patients who received CAS between January 1, 2010, and December 31, 2016, from NHIRD were divided into groups based on post-procedure medication as follows: only antiplatelet agent (OAP, n = 587); only anticoagulation agent (OAC, n = 477); dual antiplatelet agents (DAP, n = 49); and a combination of antiplatelet and anticoagulation agents (CAPAC, n = 304). Mortality, vascular events, and major bleeding episodes were compared after matching with the Charlson comorbidity index and CHA2DS2-VASc score. The CAPAC and the OAC groups had lower mortality rates than the OAP group (P = 0.0219), with no statistical differences in major bleeding, ischemic stroke, or vascular events. In conclusion, OAC therapy after CAS appears suitable for NVAF patients. CAPAC therapy might be considered as initial therapy or when there is concern about vascular events.

Radiation vasculopathy is one of the rare causes of ischemic stroke. Carotid stenosis with large volume infarction may occur years after radiation therapy for head or neck cancer. We report a case of a patient with bilateral internal carotid artery occlusion presenting with left middle cerebral artery infarct 10 years after receiving treatment for tongue cancer. A literature review and discussion of treatment for such patients are presented.