1.Adult-onset Neuronal Intranuclear Inclusion Disease Presenting with Intermittent Visual Disturbances and Right Hemiparesis: Clinical Significance and Diagnostic Approach
Doyeon KOOK ; Yunjung CHOI ; Jiyun LEE ; Hyung Jun PARK ; Hanna CHO ; Hyunjin PARK ; HanKyeol KIM ; Takeshi MIZUGUCHI ; Naomichi MATSUMOTO ; Won-Joo KIM
Journal of the Korean Neurological Association 2025;43(2):100-104
Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder characterized by the presence of eosinophilic nuclear inclusions in neurons and somatic cells. It clinically manifests as cognitive decline, seizures, and autonomic dysfunction. A 44-year-old man presented with a transient visual field defect and hemiparesis. Based on characteristic imaging findings and pathological findings, NIID was suspected and diagnosed through genetic testing. This case emphasizes the importance of comprehensive clinical phenotype analysis and accurate genetic diagnosis.
2.Adult-onset Neuronal Intranuclear Inclusion Disease Presenting with Intermittent Visual Disturbances and Right Hemiparesis: Clinical Significance and Diagnostic Approach
Doyeon KOOK ; Yunjung CHOI ; Jiyun LEE ; Hyung Jun PARK ; Hanna CHO ; Hyunjin PARK ; HanKyeol KIM ; Takeshi MIZUGUCHI ; Naomichi MATSUMOTO ; Won-Joo KIM
Journal of the Korean Neurological Association 2025;43(2):100-104
Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder characterized by the presence of eosinophilic nuclear inclusions in neurons and somatic cells. It clinically manifests as cognitive decline, seizures, and autonomic dysfunction. A 44-year-old man presented with a transient visual field defect and hemiparesis. Based on characteristic imaging findings and pathological findings, NIID was suspected and diagnosed through genetic testing. This case emphasizes the importance of comprehensive clinical phenotype analysis and accurate genetic diagnosis.
3.Adult-onset Neuronal Intranuclear Inclusion Disease Presenting with Intermittent Visual Disturbances and Right Hemiparesis: Clinical Significance and Diagnostic Approach
Doyeon KOOK ; Yunjung CHOI ; Jiyun LEE ; Hyung Jun PARK ; Hanna CHO ; Hyunjin PARK ; HanKyeol KIM ; Takeshi MIZUGUCHI ; Naomichi MATSUMOTO ; Won-Joo KIM
Journal of the Korean Neurological Association 2025;43(2):100-104
Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder characterized by the presence of eosinophilic nuclear inclusions in neurons and somatic cells. It clinically manifests as cognitive decline, seizures, and autonomic dysfunction. A 44-year-old man presented with a transient visual field defect and hemiparesis. Based on characteristic imaging findings and pathological findings, NIID was suspected and diagnosed through genetic testing. This case emphasizes the importance of comprehensive clinical phenotype analysis and accurate genetic diagnosis.
4.Antiproliferative Activity of Piceamycin by Regulating Alpha-Actinin-4 in Gemcitabine-Resistant Pancreatic Cancer Cells
Jee-Hyung LEE ; Jin Ho CHOI ; Kyung-Min LEE ; Min Woo LEE ; Ja-Lok KU ; Dong-Chan OH ; Yern-Hyerk SHIN ; Dae Hyun KIM ; In Rae CHO ; Woo Hyun PAIK ; Ji Kon RYU ; Yong-Tae KIM ; Sang Hyub LEE ; Sang Kook LEE
Biomolecules & Therapeutics 2024;32(1):123-135
Although gemcitabine-based regimens are widely used as an effective treatment for pancreatic cancer, acquired resistance to gemcitabine has become an increasingly common problem. Therefore, a novel therapeutic strategy to treat gemcitabine-resistant pancreatic cancer is urgently required. Piceamycin has been reported to exhibit antiproliferative activity against various cancer cells; however, its underlying molecular mechanism for anticancer activity in pancreatic cancer cells remains unexplored. Therefore, the present study evaluated the antiproliferation activity of piceamycin in a gemcitabine-resistant pancreatic cancer cell line and patient-derived pancreatic cancer organoids. Piceamycin effectively inhibited the proliferation and suppressed the expression of alpha-actinin-4, a gene that plays a pivotal role in tumorigenesis and metastasis of various cancers, in gemcitabine-resistant cells. Long-term exposure to piceamycin induced cell cycle arrest at the G0/G1 phase and caused apoptosis. Piceamycin alsoinhibited the invasion and migration of gemcitabine-resistant cells by modulating focal adhesion and epithelial-mesenchymal transition biomarkers. Moreover, the combination of piceamycin and gemcitabine exhibited a synergistic antiproliferative activity in gemcitabine-resistant cells. Piceamycin also effectively inhibited patient-derived pancreatic cancer organoid growth and induced apoptosis in the organoids. Taken together, these findings demonstrate that piceamycin may be an effective agent for overcoming gemcitabine resistance in pancreatic cancer.
5.Sex Differences in Chronic Cough Epidemiology: The Korean Cough Study Group
Jiyeon KANG ; Woo Jung SEO ; Jieun KANG ; Jung Gon KIM ; Sung Jun CHUNG ; Hyung Koo KANG ; Sung-Soon LEE ; Tai Joon AN ; Hyonsoo JOO ; Hyun LEE ; Youlim KIM ; Ina JEONG ; Jinkyeong PARK ; Sung-Kyoung KIM ; Jong-Wook SHIN ; Chin Kook RHEE ; Yee Hyung KIM ; Kyung Hoon MIN ; Ji-Yong MOON ; Deog Kyeom KIM ; Seung Hun JANG ; Kwang Ha YOO ; Jin Woo KIM ; Hyoung Kyu YOON ; Hyeon-Kyoung KOO
Journal of Korean Medical Science 2024;39(38):e273-
Background:
Chronic cough is a common symptom encountered by healthcare practitioners.The global prevalence of chronic cough is 9.6%, with a female predominance. The aim of our study is to reveal the sex differences in prevalence and severity of chronic cough in South Korea, stratified by age and etiology.
Methods:
This study included adult patients with chronic cough who were recruited from 19 respiratory centers in South Korea. Patients completed the cough numeric rating scale (NRS) and COugh Assessment Test (COAT) questionnaire to assess the severity and multidimensional impact of cough.
Results:
Among the 625 patients, 419 (67.0%) were females, with a male-to-female ratio of 1:2.03. The mean age was 49.4 years, and the median duration of cough was 12 weeks. The mean NRS and COAT scores were 5.5 ± 1.8 and 9.5 ± 3.6, respectively. Female patients were older (45.3 ± 15.4 vs. 51.6 ± 15.2, P < 0.001) and more likely to have asthma/cough variant asthma (CVA) (26.7% vs. 40.8%, P = 0.001) than male patients. There was no difference in the duration or severity of cough between sexes, regardless of the cause. The male-tofemale ratio was lower for upper airway cough syndrome (UACS), asthma/CVA, and gastroesophageal reflux disease (GERD), but not for eosinophilic bronchitis (EB) or unexplained cough. The mean age of female patients was higher in UACS and asthma/CVA, but not in EB, GERD, or unexplained cough. The majority (24.2%) fell within the age category of 50s. The proportion of females with cough increased with age, with a significant rise in the 50s, 60s, and 70–89 age groups. The severity of cough decreased in the 50s, 60s, and 70–89 age groups, with no significant sex differences within the same age group.
Conclusion
The sex disparities in prevalence and severity of cough varied significantly depending on the age category and etiology. Understanding the specific sex-based difference could enhance comprehension of cough-related pathophysiology and treatment strategies.
6.Telemedicine Protocols for the Management of Patients with Acute Spontaneous Intracerebral Hemorrhage in Rural and Medically Underserved Areas in Gangwon State : Recommendations for Doctors with Less Expertise at Local Emergency Rooms
Hyo Sub JUN ; Kuhyun YANG ; Jongyeon KIM ; Jin Pyeong JEON ; Sun Jeong KIM ; Jun Hyong AHN ; Seung Jin LEE ; Hyuk Jai CHOI ; In Bok CHANG ; Jeong Jin PARK ; Jong-Kook RHIM ; Sung-Chul JIN ; Sung Min CHO ; Sung-Pil JOO ; Seung Hun SHEEN ; Sang Hyung LEE ;
Journal of Korean Neurosurgical Society 2024;67(4):385-396
Previously, we reported the concept of a cloud-based telemedicine platform for patients with intracerebral hemorrhage (ICH) at local emergency rooms in rural and medically underserved areas in Gangwon state by combining artificial intelligence and remote consultation with a neurosurgeon. Developing a telemedicine ICH treatment protocol exclusively for doctors with less ICH expertise working in emergency rooms should be part of establishing this system. Difficulties arise in providing appropriate early treatment for ICH in rural and underserved areas before the patient is transferred to a nearby hub hospital with stroke specialists. This has been an unmet medical need for decade. The available reporting ICH guidelines are realistically possible in university hospitals with a well-equipped infrastructure. However, it is very difficult for doctors inexperienced with ICH treatment to appropriately select and deliver ICH treatment based on the guidelines. To address these issues, we developed an ICH telemedicine protocol. Neurosurgeons from four university hospitals in Gangwon state first wrote the guidelines, and professors with extensive ICH expertise across the country revised them. Guidelines and recommendations for ICH management were described as simply as possible to allow more doctors to use them easily. We hope that our effort in developing the telemedicine protocols will ultimately improve the quality of ICH treatment in local emergency rooms in rural and underserved areas in Gangwon state.
7.Triglyceride-glucose index is an independent predictor of coronary artery calcification progression in patients with chronic kidney disease
Ye Eun KO ; Hyung Woo KIM ; Jung Tak PARK ; Seung Hyeok HAN ; Shin-Wook KANG ; Suah SUNG ; Kyu-Beck LEE ; Joongyub LEE ; Kook-Hwan OH ; Tae-Hyun YOO ;
Kidney Research and Clinical Practice 2024;43(3):381-390
Coronary artery calcification (CAC) is highly prevalent in patients with chronic kidney disease (CKD) and is associated with major adverse cardiovascular events and metabolic disturbances. The triglyceride-glucose index (TyGI), a novel surrogate marker of metabolic syndrome and insulin resistance, is associated with CAC in the general population and in patients with diabetes. This study investigated the association between the TyGI and CAC progression in patients with CKD, which is unknown. Methods: A total of 1,154 patients with CKD (grades 1–5; age, 52.8 ± 11.9 years; male, 688 [59.6%]) were enrolled from the KNOWCKD (KoreaN Cohort Study for Outcomes in Patients With Chronic Kidney Disease). The TyGI was calculated as follows: ln (fasting triglycerides × fasting glucose/2). Patients were classified into tertiles (low, intermediate, high) based on the TyGI. The primary outcome was annualized percentage change in CAC score [(percent change in CAC score + 1)12/follow-up months – 1] of ≥15%, defined as CAC progression. Results: During the 4-year follow-up, the percentage of patients with CAC progression increased across TyGI groups (28.6%, 37.5%, and 46.2% in low, intermediate, and high groups, respectively; p < 0.001). A high TyGI was associated with an increased risk of CAC progression (odds ratio [OR], 2.11; 95% confidence interval [CI], 1.14–3.88; p = 0.02) compared to the low group. Moreover, a 1-point increase in the TyGI was related to increased risk of CAC progression (OR, 1.55; 95% CI, 1.06–1.76; p = 0.02) after adjustment. Conclusion: A high TyGI may be a useful predictor of CAC progression in CKD.
8.Cutaneous Metastasis of Renal Cell Carcinoma Presenting as Multiple Nodules: A Case Report
Dong Heon LEE ; Ho Eun GWAG ; So Yoon PARK ; Narang HONG ; Hyung Don KOOK ; Jiyoung AHN ; Mi Youn PARK ; Hye Jung JUNG
Korean Journal of Dermatology 2024;62(2):106-109
Renal cell carcinomas (RCC) account for 2.4% of all adult malignancies. RCC is known for its aggressive nature, with approximately one-third of patients presenting with metastasis at the time of diagnosis. Cutaneous metastasis is a rare presentation of this cancer. A 78-year-old male presented with numerous erythematous nodules of various sizes on the left flank, which he had had for a month. He had undergone a left partial nephrectomy for papillary RCC 3 years previously and had been receiving chemotherapy since surgery. Histopathology revealed papillary architecture with prominent atypical nucleoli throughout the dermis. Immunohistochemical findings were positive for CD10, cytokeratin 7, PAX-8, vimentin, and alpha-methylacyl-CoA racemase. These results led to a diagnosis of cutaneous metastases of papillary renal cell carcinoma. Papillary RCC rarely presents with cutaneous metastases.Because these lesions are easily accessible, cutaneous lesions in patients with risk factors for RCC should be excised and pathologically evaluated.
9.Baseline Characteristics, Disease Severity, Laboratory Findings, and Treatment History of Patients with Severe Atopic Dermatitis:A Single-Center Cohort Study in Korea
Dong Heon LEE ; Ho Eun GWAG ; So Yun PARK ; Narang HONG ; Hyung Don KOOK ; Hye Jung JUNG ; Mi Yeon PARK ; Jiyoung AHN
Korean Journal of Dermatology 2024;62(1):29-41
Background:
Since the disease burden of atopic dermatitis (AD) understandably increases with its disease severity, studies, especially on the baseline characteristics of severe AD, have been conducted in some countries to deepen the understanding of the disease and, by extension, formulate a relevant national policy. However, research on the baseline characteristics of severe AD in Korea remains insufficient.
Objective:
To report the baseline demographics and describe the clinical characteristics of adult Korean patients with severe AD, including medical and treatment history, clinical manifestations, disease severity, and laboratory findings, in order to understand the characteristics of severe AD.
Methods:
A single-center, prospective, non-interventional, observational, longitudinal study of 108 patients with severe AD was conducted between January 2021 and December 2022. Clinical data and patient-reported measures of signs and symptoms of AD were recorded at baseline.
Results:
The mean Eczema Area and Severity Index score of the patients was 28.5±6.8. The mean pruritus numerical rating scale, Patient-Oriented Eczema Measure, Dermatology Life Quality Index, and Atopic Dermatitis Control Tool scores were 8.1±1.7, 23.6±4.8, 21.9±6.6, and 19.5±3.9, respectively. Although a larger proportion of the headeck and trunk are affected than both limbs, the key signs of AD were less severe in the headeck region than in the other regions. Erythema and lichenification were more representative clinical signs of severe AD than induration and excoriation. The baseline data on previous treatments reflected the AD treatment guidelines in Korea.
Conclusion
This real-world data will provide dermatologists with a better understanding of severe AD, which will eventually lead to better clinical and health policy decisions for patients with severe AD.
10.Vitreous Opacity Following Intravitreal Brolucizumab Injection: A Case Series Review
Kook Hyung LEE ; Sung Chul LEE ; Min Woo LEE
Korean Journal of Ophthalmology 2024;38(2):113-121
Purpose:
To investigate cases of vitreous opacity (VO) similar to asteroid hyalosis (AH) after intravitreal brolucizumab injection.
Methods:
A retrospective chart review was conducted to identify cases showing VO similar to AH among patients who received intravitreal brolucizumab injections at our retinal clinic from January 2022 to January 2023.
Results:
A total of 220 brolucizumab injections were administered at our hospital. VO, showing yellow-white brilliant reflective particles, was found in six patients (2.7%). When VO occurred, all patients complained of floaters, although none of them complained of other symptoms including decreased visual acuity, pain, or conjunctival redness. The mean number of brolucizumab injections was 2.57 ± 2.38. No significant visual impairment was observed while VO was present. VO improved in all cases, and four cases improved without any treatment. The mean interval from onset to disappearance of VO was 8.0 ± 3.1 weeks.
Conclusions
VO, similar to AH, can occur with a relatively high probability after intravitreal brolucizumab injections. Patients complained of severe floaters, but VO was not accompanied by other symptoms including vision impairment, injection, and pain. The VO disappeared after approximately 4 to 14 weeks. In case that other inflammatory findings are not severe, close follow-up without treatment may be sufficient. If a patient complains of floaters after an intravitreal brolucizumab injection, close fundus observation is necessary to evaluate the VO.

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