1.Clinical characteristics of toxoplasmosis patients in Korea: A retrospective study using health insurance review and assessment service data and electronic medical records
Do-Won HAM ; Bong-Kwang JUNG ; Ji-Hun SHIN ; Yong Joon KIM ; Kyoung Yul SEO ; Seung Mi LEE ; Jae Hyoung IM ; Jeong-Ran KWON ; Ho-Sung LEE ; Kyung-Won HWANG ; Eun-Hee SHIN
Parasites, Hosts and Diseases 2024;62(4):424-437
This study aimed to elucidate the clinical characteristics of patients diagnosed with toxoplasmosis in Korea. We collected and analyzed the specific research data of 5,917 patients from the Health Insurance Review and Assessment (HIRA; 2007–2020) and 533 electronic medical records (EMRs; 2003–2021) of Korean patients. The HIRA data showed that toxoplasmosis is an endemic disease that occurs constantly in Korea, with a large proportion of patients complaining of ocular symptoms. Of the 533 patients for whom EMR data were available, 54.6% were diagnosed with toxoplasmosis; ocular toxoplasmosis (35.7%), congenital toxoplasmosis (4.7%), cerebral toxoplasmosis (4.1%), pulmonary toxoplasmosis (0.4%), and toxoplasma hepatitis (0.6%), in order of frequency. In ocular cases, 54.4% of the patients had diverse ocular pathologies. Toxoplasmosis in Korea is characterized by a high frequency of ocular symptoms, most patients are adults, and 51.8% of patients with seropositivity were positive for IgG, suggesting prior infection. This study highlights that patients with ocular symptoms are included in the major diagnosis group for acquired toxoplasmosis in Korea.
2.Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis
Boram KIM ; Seung Hun LEE ; Chang Ho AHN ; Han Na JANG ; Sung Im CHO ; Jee-Soo LEE ; Yu-Mi LEE ; Su-Jin KIM ; Tae-Yon SUNG ; Kyu Eun LEE ; Woochang LEE ; Jung-Min KOH ; Moon-Woo SEONG ; Jung Hee KIM
Endocrinology and Metabolism 2024;39(6):956-964
Background:
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors in multiple endocrine organs, caused by variants in the MEN1 gene. This study analyzed the clinical and genetic features of MEN1 in a Korean cohort, identifying prevalent manifestations and genetic variants, including novel variants.
Methods:
This multicenter retrospective study reviewed the medical records of 117 MEN1 patients treated at three tertiary centers in Korea between January 2012 and September 2022. Patient demographics, tumor manifestations, outcomes, and MEN1 genetic testing results were collected. Variants were classified using American College of Medical Genetics and Genomics (ACMG) and French Oncogenetics Network of Neuroendocrine Tumors propositions (TENGEN) guidelines.
Results:
A total of 117 patients were enrolled, including 55 familial cases, with a mean age at diagnosis of 37.4±15.3 years. Primary hyperparathyroidism was identified as the most common presentation (84.6%). The prevalence of gastroenteropancreatic neuroendocrine tumor and pituitary neuroendocrine tumor (PitNET) was 77.8% (n=91) and 56.4% (n=66), respectively. Genetic testing revealed 61 distinct MEN1 variants in 101 patients, with 18 being novel. Four variants were reclassified according to the TENGEN guidelines. Patients with truncating variants (n=72) exhibited a higher prevalence of PitNETs compared to those with non-truncating variants (n=25) (59.7% vs. 36.0%, P=0.040).
Conclusion
The association between truncating variants and an increased prevalence of PitNETs in MEN1 underscores the importance of genetic characterization in guiding the clinical management of this disease. Our study sheds light on the clinical and genetic characteristics of MEN1 among the Korean population.
3.Comparison of Population Attributable Fractions of Cancer Incidence and Mortality Linked to Excess Body Weight in Korea from 2015 to 2030
Youjin HONG ; Jihye AN ; Jeehi JUNG ; Hyeon Sook LEE ; Soseul SUNG ; Sungji MOON ; Inah KIM ; Jung Eun LEE ; Aesun SHIN ; Sun Ha JEE ; Sun-Seog KWEON ; Min-Ho SHIN ; Sangmin PARK ; Seung-Ho RYU ; Sun Young YANG ; Seung Ho CHOI ; Jeongseon KIM ; Sang-Wook YI ; Yoon-Jung CHOI ; Sangjun LEE ; Woojin LIM ; Kyungsik KIM ; Sohee PARK ; Jeong-Soo IM ; Hong Gwan SEO ; Kwang-Pil KO ; Sue K. PARK
Endocrinology and Metabolism 2024;39(6):921-931
Background:
The increasing rate of excess body weight (EBW) in the global population has led to growing health concerns, including cancer-related EBW. We aimed to estimate the population attributable fraction (PAF) of cancer incidence and deaths linked to EBW in Korean individuals from 2015 to 2030 and to compare its value with various body mass index cutoffs.
Methods:
Levin’s formula was used to calculate the PAF; the prevalence rates were computed using the Korean National Health and Nutrition Examination Survey data, while the relative risks of specific cancers related to EBW were estimated based on the results of Korean cohort studies. To account for the 15-year latency period when estimating the PAF in 2020, the prevalence rates from 2015 and attributable cases or deaths from 2020 were used.
Results:
The PAF attributed to EBW was similar for both cancer incidence and deaths using either the World Health Organization (WHO) Asian-Pacific region standard or a modified Asian standard, with the WHO standard yielding the lowest values. In the Korean population, the PAFs of EBW for cancer incidence were 2.96% in men and 3.61% in women, while those for cancer deaths were 0.67% in men and 3.06% in women in 2020. Additionally, PAFs showed a gradual increase in both sexes until 2030.
Conclusion
The EBW continues to have a significant impact on cancer incidence and deaths in Korea. Effective prevention strategies targeting the reduction of this modifiable risk factor can substantially decrease the cancer burden.
4.Development of a multi-analysis model using an epithelial-fibroblast co-culture system as an alternative to animal testing
Min-Ju KIM ; Hee-Sung HWANG ; Jee Hoon CHOI ; Eun-Seon YOO ; Mi-Im JANG ; Juhee LEE ; Seung Min OH
Environmental Analysis Health and Toxicology 2024;39(3):e2024024-
The evaluation of respiratory chemical substances has been mostly performed in animal tests (OECD TG 403, TG 412, TG 413, etc.). However, there have been ongoing discussions about the limited use of these inhalation toxicity tests due to differences in the anatomical structure of the respiratory tract, difficulty in exposure, laborious processes, and ethical reasons. Alternative animal testing methods that mimic in vivo testing are required. Therefore, in this study, we established a co-culture system composed of differentiated epithelial cells under an air-liquid interface (ALI) system in the apical part and fibroblasts in the basal part. This system was designed to mimic the wound-healing mechanism in the respiratory system. In addition, we developed a multi-analysis system that simultaneously performs toxicological and functional evaluations. Several individual assays were used sequentially in a multi-analysis model for pulmonary toxicity. Briefly, cytokine analysis, histology, and cilia motility were measured in the apical part, and cell migration and gel contraction assay were performed by exposing MRC-5 cells to the basal culture. First, human airway epithelial cells from bronchial (hAECB) were cultured under air-liquid interface (ALI) system conditions and validated pseudostratified epithelium by detecting differentiation-related epithelial markers using Transepithelial Electrical Resistance (TEER) measurement, Hematoxylin and Eosin (H&E) staining, and immunocytochemistry (ICC) staining. Afterward, the co-culture cells exposed to Transforming growth factor-beta 1 (TGF-β1), a key mediator of pulmonary fibrosis, induced significant toxicological responses such as cytotoxicity, cell migration, and gel contraction, which are wound-healing markers. In addition, cilia motility in epithelial cells was significantly decreased compared to control. Therefore, the multi-analysis model with a 3D epithelial-fibroblast co-culture system is expected to be useful in predicting pulmonary toxicity as a simple and efficient high-throughput screening method and as an alternative to animal testing.
5.Clinical characteristics of toxoplasmosis patients in Korea: A retrospective study using health insurance review and assessment service data and electronic medical records
Do-Won HAM ; Bong-Kwang JUNG ; Ji-Hun SHIN ; Yong Joon KIM ; Kyoung Yul SEO ; Seung Mi LEE ; Jae Hyoung IM ; Jeong-Ran KWON ; Ho-Sung LEE ; Kyung-Won HWANG ; Eun-Hee SHIN
Parasites, Hosts and Diseases 2024;62(4):424-437
This study aimed to elucidate the clinical characteristics of patients diagnosed with toxoplasmosis in Korea. We collected and analyzed the specific research data of 5,917 patients from the Health Insurance Review and Assessment (HIRA; 2007–2020) and 533 electronic medical records (EMRs; 2003–2021) of Korean patients. The HIRA data showed that toxoplasmosis is an endemic disease that occurs constantly in Korea, with a large proportion of patients complaining of ocular symptoms. Of the 533 patients for whom EMR data were available, 54.6% were diagnosed with toxoplasmosis; ocular toxoplasmosis (35.7%), congenital toxoplasmosis (4.7%), cerebral toxoplasmosis (4.1%), pulmonary toxoplasmosis (0.4%), and toxoplasma hepatitis (0.6%), in order of frequency. In ocular cases, 54.4% of the patients had diverse ocular pathologies. Toxoplasmosis in Korea is characterized by a high frequency of ocular symptoms, most patients are adults, and 51.8% of patients with seropositivity were positive for IgG, suggesting prior infection. This study highlights that patients with ocular symptoms are included in the major diagnosis group for acquired toxoplasmosis in Korea.
6.Clinical characteristics of toxoplasmosis patients in Korea: A retrospective study using health insurance review and assessment service data and electronic medical records
Do-Won HAM ; Bong-Kwang JUNG ; Ji-Hun SHIN ; Yong Joon KIM ; Kyoung Yul SEO ; Seung Mi LEE ; Jae Hyoung IM ; Jeong-Ran KWON ; Ho-Sung LEE ; Kyung-Won HWANG ; Eun-Hee SHIN
Parasites, Hosts and Diseases 2024;62(4):424-437
This study aimed to elucidate the clinical characteristics of patients diagnosed with toxoplasmosis in Korea. We collected and analyzed the specific research data of 5,917 patients from the Health Insurance Review and Assessment (HIRA; 2007–2020) and 533 electronic medical records (EMRs; 2003–2021) of Korean patients. The HIRA data showed that toxoplasmosis is an endemic disease that occurs constantly in Korea, with a large proportion of patients complaining of ocular symptoms. Of the 533 patients for whom EMR data were available, 54.6% were diagnosed with toxoplasmosis; ocular toxoplasmosis (35.7%), congenital toxoplasmosis (4.7%), cerebral toxoplasmosis (4.1%), pulmonary toxoplasmosis (0.4%), and toxoplasma hepatitis (0.6%), in order of frequency. In ocular cases, 54.4% of the patients had diverse ocular pathologies. Toxoplasmosis in Korea is characterized by a high frequency of ocular symptoms, most patients are adults, and 51.8% of patients with seropositivity were positive for IgG, suggesting prior infection. This study highlights that patients with ocular symptoms are included in the major diagnosis group for acquired toxoplasmosis in Korea.
7.Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis
Boram KIM ; Seung Hun LEE ; Chang Ho AHN ; Han Na JANG ; Sung Im CHO ; Jee-Soo LEE ; Yu-Mi LEE ; Su-Jin KIM ; Tae-Yon SUNG ; Kyu Eun LEE ; Woochang LEE ; Jung-Min KOH ; Moon-Woo SEONG ; Jung Hee KIM
Endocrinology and Metabolism 2024;39(6):956-964
Background:
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors in multiple endocrine organs, caused by variants in the MEN1 gene. This study analyzed the clinical and genetic features of MEN1 in a Korean cohort, identifying prevalent manifestations and genetic variants, including novel variants.
Methods:
This multicenter retrospective study reviewed the medical records of 117 MEN1 patients treated at three tertiary centers in Korea between January 2012 and September 2022. Patient demographics, tumor manifestations, outcomes, and MEN1 genetic testing results were collected. Variants were classified using American College of Medical Genetics and Genomics (ACMG) and French Oncogenetics Network of Neuroendocrine Tumors propositions (TENGEN) guidelines.
Results:
A total of 117 patients were enrolled, including 55 familial cases, with a mean age at diagnosis of 37.4±15.3 years. Primary hyperparathyroidism was identified as the most common presentation (84.6%). The prevalence of gastroenteropancreatic neuroendocrine tumor and pituitary neuroendocrine tumor (PitNET) was 77.8% (n=91) and 56.4% (n=66), respectively. Genetic testing revealed 61 distinct MEN1 variants in 101 patients, with 18 being novel. Four variants were reclassified according to the TENGEN guidelines. Patients with truncating variants (n=72) exhibited a higher prevalence of PitNETs compared to those with non-truncating variants (n=25) (59.7% vs. 36.0%, P=0.040).
Conclusion
The association between truncating variants and an increased prevalence of PitNETs in MEN1 underscores the importance of genetic characterization in guiding the clinical management of this disease. Our study sheds light on the clinical and genetic characteristics of MEN1 among the Korean population.
8.Comparison of Population Attributable Fractions of Cancer Incidence and Mortality Linked to Excess Body Weight in Korea from 2015 to 2030
Youjin HONG ; Jihye AN ; Jeehi JUNG ; Hyeon Sook LEE ; Soseul SUNG ; Sungji MOON ; Inah KIM ; Jung Eun LEE ; Aesun SHIN ; Sun Ha JEE ; Sun-Seog KWEON ; Min-Ho SHIN ; Sangmin PARK ; Seung-Ho RYU ; Sun Young YANG ; Seung Ho CHOI ; Jeongseon KIM ; Sang-Wook YI ; Yoon-Jung CHOI ; Sangjun LEE ; Woojin LIM ; Kyungsik KIM ; Sohee PARK ; Jeong-Soo IM ; Hong Gwan SEO ; Kwang-Pil KO ; Sue K. PARK
Endocrinology and Metabolism 2024;39(6):921-931
Background:
The increasing rate of excess body weight (EBW) in the global population has led to growing health concerns, including cancer-related EBW. We aimed to estimate the population attributable fraction (PAF) of cancer incidence and deaths linked to EBW in Korean individuals from 2015 to 2030 and to compare its value with various body mass index cutoffs.
Methods:
Levin’s formula was used to calculate the PAF; the prevalence rates were computed using the Korean National Health and Nutrition Examination Survey data, while the relative risks of specific cancers related to EBW were estimated based on the results of Korean cohort studies. To account for the 15-year latency period when estimating the PAF in 2020, the prevalence rates from 2015 and attributable cases or deaths from 2020 were used.
Results:
The PAF attributed to EBW was similar for both cancer incidence and deaths using either the World Health Organization (WHO) Asian-Pacific region standard or a modified Asian standard, with the WHO standard yielding the lowest values. In the Korean population, the PAFs of EBW for cancer incidence were 2.96% in men and 3.61% in women, while those for cancer deaths were 0.67% in men and 3.06% in women in 2020. Additionally, PAFs showed a gradual increase in both sexes until 2030.
Conclusion
The EBW continues to have a significant impact on cancer incidence and deaths in Korea. Effective prevention strategies targeting the reduction of this modifiable risk factor can substantially decrease the cancer burden.
9.Development of a multi-analysis model using an epithelial-fibroblast co-culture system as an alternative to animal testing
Min-Ju KIM ; Hee-Sung HWANG ; Jee Hoon CHOI ; Eun-Seon YOO ; Mi-Im JANG ; Juhee LEE ; Seung Min OH
Environmental Analysis Health and Toxicology 2024;39(3):e2024024-
The evaluation of respiratory chemical substances has been mostly performed in animal tests (OECD TG 403, TG 412, TG 413, etc.). However, there have been ongoing discussions about the limited use of these inhalation toxicity tests due to differences in the anatomical structure of the respiratory tract, difficulty in exposure, laborious processes, and ethical reasons. Alternative animal testing methods that mimic in vivo testing are required. Therefore, in this study, we established a co-culture system composed of differentiated epithelial cells under an air-liquid interface (ALI) system in the apical part and fibroblasts in the basal part. This system was designed to mimic the wound-healing mechanism in the respiratory system. In addition, we developed a multi-analysis system that simultaneously performs toxicological and functional evaluations. Several individual assays were used sequentially in a multi-analysis model for pulmonary toxicity. Briefly, cytokine analysis, histology, and cilia motility were measured in the apical part, and cell migration and gel contraction assay were performed by exposing MRC-5 cells to the basal culture. First, human airway epithelial cells from bronchial (hAECB) were cultured under air-liquid interface (ALI) system conditions and validated pseudostratified epithelium by detecting differentiation-related epithelial markers using Transepithelial Electrical Resistance (TEER) measurement, Hematoxylin and Eosin (H&E) staining, and immunocytochemistry (ICC) staining. Afterward, the co-culture cells exposed to Transforming growth factor-beta 1 (TGF-β1), a key mediator of pulmonary fibrosis, induced significant toxicological responses such as cytotoxicity, cell migration, and gel contraction, which are wound-healing markers. In addition, cilia motility in epithelial cells was significantly decreased compared to control. Therefore, the multi-analysis model with a 3D epithelial-fibroblast co-culture system is expected to be useful in predicting pulmonary toxicity as a simple and efficient high-throughput screening method and as an alternative to animal testing.
10.Genetic Landscape and Clinical Manifestations of Multiple Endocrine Neoplasia Type 1 in a Korean Cohort: A Multicenter Retrospective Analysis
Boram KIM ; Seung Hun LEE ; Chang Ho AHN ; Han Na JANG ; Sung Im CHO ; Jee-Soo LEE ; Yu-Mi LEE ; Su-Jin KIM ; Tae-Yon SUNG ; Kyu Eun LEE ; Woochang LEE ; Jung-Min KOH ; Moon-Woo SEONG ; Jung Hee KIM
Endocrinology and Metabolism 2024;39(6):956-964
Background:
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors in multiple endocrine organs, caused by variants in the MEN1 gene. This study analyzed the clinical and genetic features of MEN1 in a Korean cohort, identifying prevalent manifestations and genetic variants, including novel variants.
Methods:
This multicenter retrospective study reviewed the medical records of 117 MEN1 patients treated at three tertiary centers in Korea between January 2012 and September 2022. Patient demographics, tumor manifestations, outcomes, and MEN1 genetic testing results were collected. Variants were classified using American College of Medical Genetics and Genomics (ACMG) and French Oncogenetics Network of Neuroendocrine Tumors propositions (TENGEN) guidelines.
Results:
A total of 117 patients were enrolled, including 55 familial cases, with a mean age at diagnosis of 37.4±15.3 years. Primary hyperparathyroidism was identified as the most common presentation (84.6%). The prevalence of gastroenteropancreatic neuroendocrine tumor and pituitary neuroendocrine tumor (PitNET) was 77.8% (n=91) and 56.4% (n=66), respectively. Genetic testing revealed 61 distinct MEN1 variants in 101 patients, with 18 being novel. Four variants were reclassified according to the TENGEN guidelines. Patients with truncating variants (n=72) exhibited a higher prevalence of PitNETs compared to those with non-truncating variants (n=25) (59.7% vs. 36.0%, P=0.040).
Conclusion
The association between truncating variants and an increased prevalence of PitNETs in MEN1 underscores the importance of genetic characterization in guiding the clinical management of this disease. Our study sheds light on the clinical and genetic characteristics of MEN1 among the Korean population.

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