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.

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.

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.

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.

Atopic dermatitis (AD) is the most prevalent inflammatory skin condition, with approximately 80% of cases originating in childhood and some emerging in adulthood. In South Korea, the estimated prevalence of AD ranges between 10% and 20% in children and 1% and 3% in adults. Severe/recalcitrant AD manifests as a chronic, relapsing skin disorder, persisting with uncontrolled symptoms even after topical steroid treatment. Corticosteroids and systemic immunosuppression, conventionally the standard care for difficult-to-treat diseases, cause numerous undesirable side effects. When AD persists despite topical steroid application, systemic therapies like cyclosporine or systemic steroids become the second treatment strategy. The desire for targeted treatments, along with an enhanced understanding of AD’s pathophysiology, has spurred novel therapeutic development. Recent advances introduce novel systemic options, such as biological agents and small-molecule therapy, tailored to treat severe or recalcitrant AD. Notably, dupilumab, a monoclonal antibody inhibiting interleukin 4 and 13, marked a transformative breakthrough upon gaining approval from the U.S. Food and Drug Administration (FDA) in 2017, leading to a paradigm shift in the systemic treatment of AD. Furthermore, both dupilumab and Janus kinase inhibitors, including baricitinib, abrocitinib, and tofacitinib, now approved by the Korean FDA, have established their applicability in clinical practice. These innovative therapeutic agents have demonstrated favorable clinical outcomes, effectively addressing moderate to severe AD with fewer side reactions than those associated with previous systemic immunosuppressants. This review summarizes the latest advancements and evidence regarding systemic treatments for AD, including newly approved drugs in Korea.

Osteoarthritis (OA) involves cartilage degeneration, thereby causing inflammation and pain. Cardiovascular diseases, such as dyslipidemia, are risk factors for OA; however, the mechanism is unclear. We investigated the effect of dyslipidemia on the development of OA. Treatment of cartilage cells with low-density lipoprotein (LDL) enhanced abnormal autophagy but suppressed normal autophagy and reduced the activity of transcription factor EB (TFEB), which is important for the function of lysosomes. Treatment of LDL-exposed chondrocytes with rapamycin, which activates TFEB, restored normal autophagy. Also, LDL enhanced the inflammatory death of chondrocytes, an effect reversed by rapamycin. In an animal model of hyperlipidemia-associated OA, dyslipidemia accelerated the development of OA, an effect reversed by treatment with a statin, an anti-dyslipidemia drug, or rapamycin, which activates TFEB. Dyslipidemia reduced the autophagic flux and induced necroptosis in the cartilage tissue of patients with OA. The levels of triglycerides, LDL, and total cholesterol were increased in patients with OA compared to those without OA. The C-reactive protein level of patients with dyslipidemia was higher than that of those without dyslipidemia after total knee replacement arthroplasty. In conclusion, oxidized LDL, an important risk factor of dyslipidemia, inhibited the activity of TFEB and reduced the autophagic flux, thereby inducing necroptosis in chondrocytes.

Objectives: Severe mental illness has become one of the leading concerns for the cost of health services. This study analyzed the demographic characteristics and compared the patterns of medical health service use according to the diagnosis of severe mental illness, including schizophrenia spectrum disease, bipolar disease, and major depressive disorder. Methods: The data from the National Health Insurance Corporation were analyzed, selecting subjects diagnosed at least once for severe mental illness between 2014 and 2019. Severe mental illness included the following: schizophrenia, schizotypal, and delusional disorders (F20– 29); manic episodes and bipolar affective disorder (F30–31); and moderate depressive episodes with psychotic features and recurrent depressive disorder (F32.3–F33). The demographic factors and patterns of medical services, such as outpatient, hospitalization, and re-admission differences, were compared according to the diagnostic categories. Results: This study included 842459 patients, with 39.6% people in F20–F29, 33.7% in F32.3– F33, and 26.8% in the F30–F31 category. There were significant differences in gender, age, insurance type, Charlson Comorbidity Index score, and economic level according to the diagnostic categories. The engagement of medical health services also showed significant differences among the diagnostic categories. F32.3–F33 showed higher engagement of outpatients than the out-groups, while F20–F29 showed a higher admission rate. The hospitalization duration was significantly longer in F20–F29, and the re-admission rate after discharge within one year was significantly higher in the same group. Conclusion This paper reviewed the differences in medical care utilization among severe mental illness. The result emphasizes the need for a mental health care system broadening to the community, facilitating psychosocial intervention, and case management.

Background: Upadacitinib is an oral Janus kinase1 (JAK1)-selective inhibitor, which showed a quick and significant effect on patients with atopic dermatitis in several phase 3 clinical studies. Although, an increasing number of studies have reported data on the real-world efficacy and safety of upadacitinib for the treatment of atopic dermatitis, no studies have yet been published in Korea. Objective: We assessed the real-world efficacy and safety of upadacitinib for the treatment of atopic dermatitis in Korean patients. Methods: A total of 17 patients with atopic dermatitis who received 15 mg of oral upadacitinib everyday for 16 weeks, were included in this retrospective single-center study. Based on electronic medical records, the clinical characteristics, Eczema Area and Severity Index (EASI) score, and adverse events were investigated. Results: The mean EASI score was significantly reduced at 4 weeks of upadacitinib treatment (8.81±9.00) and gradually reduced at week 8 (5.70±7.38), week 12 (4.55±6.23), and week 16 (4.58±6.74) (p＜0.001). At week 16, 61.54%, 30.77%, and 15.38% of patients achieved EASI 75, EASI 90, and EASI 100 responses, respectively. There was no statistically significant difference between EASI 75 and EASI 90 by age or gender at week 16 (p＞0.05). A total of 13 people (76.5%) had adverse events, of which acne was the most common. In all patients, the symptoms were mild and self-limited, and no patient discontinued treatment. Conclusion Upadacitinib was effective and safe for Korean patients with atopic dermatitis in real-world clinical practice.

Background: Dermatophyte infection is one of the most common skin diseases affecting the skin, hair, and nails. Despite widespread recognition of the disease, missing details and misperceptions are commonplace in the general population. Objective: This study aimed to investigate the public perception and behavior regarding dermatophytosis of the hands and feet. Methods: This results from an online survey conducted between July 2022 and August 2022. The survey included 1,000 Korean participants aged 20 to 69 years, of whom 60% experienced symptoms of tinea pedis or onychomycosis. The questionnaire focused on the awareness and personal experience of tinea pedis and perception of the treatment of dermatophytosis. Results: Of the 1,000 participants, nearly 80% regarded tinea pedis as a common skin condition by which anyone can be affected. Furthermore, 88.4% had heard that the treatment of tinea pedis could be harmful, causing skin rash (60.4%) and worsening liver function (48.5%). Among 896 participants who noticed suspicious symptoms, 81.2% did not visit the clinic because it was not severe (50.1%) and seemed easily manageable (25.7%). Of the respondents, 84.4% preferred to meet dermatologists rather than non-dermatologist doctors regarding skin diseases, mainly because of trust in experts and belief in a faster cure. Conclusion Providing accurate and detailed information via online media, educational campaigns, and medical papers can rectify misconceptions and improve patient appliance, contributing to public skin health.

Objective: To develop an integrated and comprehensive community-based mental healthcare model, opinions were collected on various issues from practitioners in mental health service institutions currently offering mental healthcare services in Seoul through a focus group interview, qualitative research method, and Delphi survey. Methods: The focus group interview was conducted with six practitioners from mental health welfare centers and six hospital-based psychiatrists. A questionnaire of opinions on the mental healthcare model was filled by these practitioners and psychiatrists. A Delphi survey was additionally conducted with a panel of 20 experts from a community mental health welfare center and hospital-based psychiatrists. Results: The focus group interview results showed the need for integrated community-based mental healthcare service and the need to establish a system for managing mental and physical health in an integrated manner. Based on the survey results, the current status of community-based mental healthcare services was investigated, and the direction of the revised model was established. The Delphi survey was then conducted to refine the revised model. Conclusion The present study presents the Seoul-type community-based mental healthcare model with integrated services between a psychiatric hospital with a mental health welfare center as well as combined mental and physical health services. This is ultimately expected to help people with mental illnesses live healthy lives by meeting their needs as community members.