1.Clinicopathological Correlations of Neurodegenerative Diseases in the National Brain Biobank of Korea
Young Hee JUNG ; Jun Pyo KIM ; Hee Jin KIM ; Hyemin JANG ; Hyun Jeong HAN ; Young Ho KOH ; Duk L. NA ; Yeon-Lim SUH ; Gi Yeong HUH ; Jae-Kyung WON ; Seong-Ik KIM ; Ji-Young CHOI ; Sang Won SEO ; Sung-Hye PARK ; Eun-Joo KIM
Journal of Clinical Neurology 2025;21(3):190-200
Background:
and Purpose The National Brain Biobank of Korea (NBBK) is a brain bank consortium supported by the Korea Disease Control and Prevention Agency and the Korea National Institute of Health, and was launched in 2015 to support research into neurodegenerative disease dementia (NDD). This study aimed to introduce the NBBK and describes clinicopathological correlations based on analyses of data collected from the NBBK.
Methods:
Four hospital-based brain banks have been established in South Korea: Samsung Medical Center Brain Bank (SMCBB), Seoul National University Hospital Brain Bank (SNUHBB), Pusan National University Hospital Brain Bank (PNUHBB), and Myongji Hospital Brain Bank (MJHBB). Clinical and pathological data were collected from these brain banks using standardized protocols. The prevalence rates of clinical and pathological diagnoses were analyzed in order to characterize the clinicopathological correlations.
Results:
Between August 2016 and December 2023, 185 brain specimens were collected and pathologically evaluated (SNUHBB: 117; PNUHBB: 27; SMCBB: 34; MJHBB: 7). The age at consent was 70.8±12.6 years, and the age at autopsy was 71.7±12.4 years. The four-most-common clinical diagnoses were Alzheimer’s disease (AD) dementia (20.0%), idiopathic Parkinson’s disease (15.1%), unspecified dementia (11.9%), and cognitively unimpaired (CU) (11.4%).Most cases of unspecified dementia had a pathological diagnosis of central nervous system (CNS) vasculopathy (31.8%) or AD (31.8%). Remarkably, only 14.2% of CU cases had normal pathological findings. The three-most-common pathological diagnoses were AD (26.5%), CNS vasculopathy (14.1%), and Lewy body disease (13.5%).
Conclusions
These clinical and neuropathological findings provide a deeper understanding of the mechanisms underlying NDD in South Korea.
2.Clinicopathological Correlations of Neurodegenerative Diseases in the National Brain Biobank of Korea
Young Hee JUNG ; Jun Pyo KIM ; Hee Jin KIM ; Hyemin JANG ; Hyun Jeong HAN ; Young Ho KOH ; Duk L. NA ; Yeon-Lim SUH ; Gi Yeong HUH ; Jae-Kyung WON ; Seong-Ik KIM ; Ji-Young CHOI ; Sang Won SEO ; Sung-Hye PARK ; Eun-Joo KIM
Journal of Clinical Neurology 2025;21(3):190-200
Background:
and Purpose The National Brain Biobank of Korea (NBBK) is a brain bank consortium supported by the Korea Disease Control and Prevention Agency and the Korea National Institute of Health, and was launched in 2015 to support research into neurodegenerative disease dementia (NDD). This study aimed to introduce the NBBK and describes clinicopathological correlations based on analyses of data collected from the NBBK.
Methods:
Four hospital-based brain banks have been established in South Korea: Samsung Medical Center Brain Bank (SMCBB), Seoul National University Hospital Brain Bank (SNUHBB), Pusan National University Hospital Brain Bank (PNUHBB), and Myongji Hospital Brain Bank (MJHBB). Clinical and pathological data were collected from these brain banks using standardized protocols. The prevalence rates of clinical and pathological diagnoses were analyzed in order to characterize the clinicopathological correlations.
Results:
Between August 2016 and December 2023, 185 brain specimens were collected and pathologically evaluated (SNUHBB: 117; PNUHBB: 27; SMCBB: 34; MJHBB: 7). The age at consent was 70.8±12.6 years, and the age at autopsy was 71.7±12.4 years. The four-most-common clinical diagnoses were Alzheimer’s disease (AD) dementia (20.0%), idiopathic Parkinson’s disease (15.1%), unspecified dementia (11.9%), and cognitively unimpaired (CU) (11.4%).Most cases of unspecified dementia had a pathological diagnosis of central nervous system (CNS) vasculopathy (31.8%) or AD (31.8%). Remarkably, only 14.2% of CU cases had normal pathological findings. The three-most-common pathological diagnoses were AD (26.5%), CNS vasculopathy (14.1%), and Lewy body disease (13.5%).
Conclusions
These clinical and neuropathological findings provide a deeper understanding of the mechanisms underlying NDD in South Korea.
3.Clinicopathological Correlations of Neurodegenerative Diseases in the National Brain Biobank of Korea
Young Hee JUNG ; Jun Pyo KIM ; Hee Jin KIM ; Hyemin JANG ; Hyun Jeong HAN ; Young Ho KOH ; Duk L. NA ; Yeon-Lim SUH ; Gi Yeong HUH ; Jae-Kyung WON ; Seong-Ik KIM ; Ji-Young CHOI ; Sang Won SEO ; Sung-Hye PARK ; Eun-Joo KIM
Journal of Clinical Neurology 2025;21(3):190-200
Background:
and Purpose The National Brain Biobank of Korea (NBBK) is a brain bank consortium supported by the Korea Disease Control and Prevention Agency and the Korea National Institute of Health, and was launched in 2015 to support research into neurodegenerative disease dementia (NDD). This study aimed to introduce the NBBK and describes clinicopathological correlations based on analyses of data collected from the NBBK.
Methods:
Four hospital-based brain banks have been established in South Korea: Samsung Medical Center Brain Bank (SMCBB), Seoul National University Hospital Brain Bank (SNUHBB), Pusan National University Hospital Brain Bank (PNUHBB), and Myongji Hospital Brain Bank (MJHBB). Clinical and pathological data were collected from these brain banks using standardized protocols. The prevalence rates of clinical and pathological diagnoses were analyzed in order to characterize the clinicopathological correlations.
Results:
Between August 2016 and December 2023, 185 brain specimens were collected and pathologically evaluated (SNUHBB: 117; PNUHBB: 27; SMCBB: 34; MJHBB: 7). The age at consent was 70.8±12.6 years, and the age at autopsy was 71.7±12.4 years. The four-most-common clinical diagnoses were Alzheimer’s disease (AD) dementia (20.0%), idiopathic Parkinson’s disease (15.1%), unspecified dementia (11.9%), and cognitively unimpaired (CU) (11.4%).Most cases of unspecified dementia had a pathological diagnosis of central nervous system (CNS) vasculopathy (31.8%) or AD (31.8%). Remarkably, only 14.2% of CU cases had normal pathological findings. The three-most-common pathological diagnoses were AD (26.5%), CNS vasculopathy (14.1%), and Lewy body disease (13.5%).
Conclusions
These clinical and neuropathological findings provide a deeper understanding of the mechanisms underlying NDD in South Korea.
4.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.
5.A Case of Type II Achalasia Occurring in a Nonagenarian Diagnosed with Acute Food Impaction
Seong Hyun KOH ; Moo In PARK ; Woo Hyuk JUNG ; Kyoungwon JUNG ; Sung Eun KIM ; Won MOON ; Seun Ja PARK
The Korean Journal of Gastroenterology 2024;83(1):23-27
Achalasia is an esophageal motility disorder characterized by loss of esophageal peristalsis and impaired relaxation of the lower esophageal sphincter. Patients with achalasia often complain of persistent symptoms for several years before diagnosis. On the other hand, achalasia diagnosed as a sudden esophageal food impaction is uncommon, and no report has been issued on the diagnosis and successful treatment of achalasia in a 95-year-old patient. We report a case of achalasia diagnosed by high-resolution esophageal manometry and timed barium esophagography after food material removal by endoscopy in a 95-year-old woman who visited the hospital due to sudden esophageal food impaction and was successfully treated by endoscopic balloon dilatation.
6.Long Term Clinical Outcomes of Gastric Mucosa-Associated Lymphoid Tissue Lymphoma: A Single Center Study
Seong Hyun KOH ; Seung Hyun YEO ; Moo In PARK ; Kyoungwon JUNG ; Sung Eun KIM ; Won MOON ; Seun Ja PARK
The Korean Journal of Helicobacter and Upper Gastrointestinal Research 2024;24(1):64-71
Objectives:
Few studies have reported long-term follow-up after treatment of gastric mucosaassociated lymphoid tissue (MALT) lymphoma. In this single-center study, we investigated longterm treatment outcomes in patients diagnosed with gastric MALT lymphoma.
Methods:
The study included 80 patients diagnosed with gastric MALT lymphoma, who were followed up at a single center between January 2005 and December 2019 after Helicobacter pylori eradication therapy, radiotherapy, or chemotherapy. We evaluated complete remission, improvement, or recurrence of the lesion. Follow-up over >60 months was classified as long-term follow-up, and the progression-free survival rate was recorded.
Results:
Following H. pylori eradication treatment, complete remission occurred in 85.9% (55/64) of H. pylori-positive and 50.0% (3/6) of H. pylori-negative patients. All patients with gastric MALT lymphoma who did not respond to H. pylori eradication therapy (100.0% [6/6]) achieved complete remission following administration of local radiotherapy. We observed no deaths on long-term follow-up (>60 months), and the progression-free survival was 101 months.
Conclusions
In this study, patients with gastric MALT lymphoma showed excellent survival rates, progression-free survival, and prognosis on long-term follow-up. Prospective studies are warranted to determine the long-term prognosis of gastric MALT lymphoma after treatment.
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.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.
9.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.
10.The Korean Academy of Asthma Allergy and Clinical Immunology guidelines for sublingual immunotherapy
Gwanghui RYU ; Hye Mi JEE ; Hwa Young LEE ; Sung-Yoon KANG ; Kyunghoon KIM ; Ju Hee KIM ; Kyung Hee PARK ; So-Young PARK ; Myong Soon SUNG ; Youngsoo LEE ; Eun-Ae YANG ; Jin-Young MIN ; Eun Kyo HA ; Sang Min LEE ; Yong Won LEE ; Eun Hee CHUNG ; Sun Hee CHOI ; Young-Il KOH ; Seon Tae KIM ; Dong-Ho NAHM ; Jung Won PARK ; Jung Yeon SHIM ; Young Min AN ; Man Yong HAN ; Jeong-Hee CHOI ; Yoo Seob SHIN ; Doo Hee HAN ;
Allergy, Asthma & Respiratory Disease 2024;12(3):125-133
Allergen immunotherapy (AIT) has been used for over a century and has been demonstrated to be effective in treating patients with various allergic diseases. AIT allergens can be administered through various routes, including subcutaneous, sublingual, intralymphatic, oral, or epicutaneous routes. Sublingual immunotherapy (SLIT) has recently gained clinical interest, and it is considered an alternative treatment for allergic rhinitis (AR) and asthma. This review provides an overview of the current evidence-based studies that address the use of SLIT for treating AR, including (1) mechanisms of action, (2) appropriate patient selection for SLIT, (3) the current available SLIT products in Korea, and (4) updated information on its efficacy and safety. Finally, this guideline aims to provide the clinician with practical considerations for SLIT.

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