Rare endocrine diseases are complex conditions that require lifelong specialized care due to their chronic nature and associated long-term complications. In Korea, a lack of nationwide data on clinical practice and outcomes has limited progress in patient care. Therefore, the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease (OUTSPREAD) study was initiated. This study involves 30 centers across Korea. The study aims to improve the long-term prognosis of Korean patients with rare endocrine diseases by collecting comprehensive clinical data, biospecimens, and patient-reported outcomes to identify complications and unmet needs in patient care. Patients with childhood-onset pituitary, adrenal, or gonadal disorders, such as craniopharyngioma, congenital adrenal hyperplasia (CAH), and Turner syndrome were prioritized. The planned enrollment is 1,300 patients during the first study phase (2022–2024). Clinical, biochemical, and imaging data from diagnosis, treatment, and follow-up during 1980–2023 were retrospectively reviewed. For patients who agreed to participate in the prospective cohort, clinical data and biospecimens will be prospectively collected to discover ideal biomarkers that predict the effectiveness of disease control measures and prognosis. Patient-reported outcomes, including quality of life and depression scales, will be evaluated to assess psychosocial outcomes. Additionally, a substudy on CAH patients will develop a steroid hormone profiling method using liquid chromatography-tandem mass spectrometry to improve diagnosis and monitoring of treatment outcomes. This study will address unmet clinical needs by discovering ideal biomarkers, introducing evidence-based treatment guidelines, and ultimately improving long-term outcomes in the areas of rare endocrine and metabolic diseases.

Rare endocrine diseases are complex conditions that require lifelong specialized care due to their chronic nature and associated long-term complications. In Korea, a lack of nationwide data on clinical practice and outcomes has limited progress in patient care. Therefore, the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease (OUTSPREAD) study was initiated. This study involves 30 centers across Korea. The study aims to improve the long-term prognosis of Korean patients with rare endocrine diseases by collecting comprehensive clinical data, biospecimens, and patient-reported outcomes to identify complications and unmet needs in patient care. Patients with childhood-onset pituitary, adrenal, or gonadal disorders, such as craniopharyngioma, congenital adrenal hyperplasia (CAH), and Turner syndrome were prioritized. The planned enrollment is 1,300 patients during the first study phase (2022–2024). Clinical, biochemical, and imaging data from diagnosis, treatment, and follow-up during 1980–2023 were retrospectively reviewed. For patients who agreed to participate in the prospective cohort, clinical data and biospecimens will be prospectively collected to discover ideal biomarkers that predict the effectiveness of disease control measures and prognosis. Patient-reported outcomes, including quality of life and depression scales, will be evaluated to assess psychosocial outcomes. Additionally, a substudy on CAH patients will develop a steroid hormone profiling method using liquid chromatography-tandem mass spectrometry to improve diagnosis and monitoring of treatment outcomes. This study will address unmet clinical needs by discovering ideal biomarkers, introducing evidence-based treatment guidelines, and ultimately improving long-term outcomes in the areas of rare endocrine and metabolic diseases.

Rare endocrine diseases are complex conditions that require lifelong specialized care due to their chronic nature and associated long-term complications. In Korea, a lack of nationwide data on clinical practice and outcomes has limited progress in patient care. Therefore, the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease (OUTSPREAD) study was initiated. This study involves 30 centers across Korea. The study aims to improve the long-term prognosis of Korean patients with rare endocrine diseases by collecting comprehensive clinical data, biospecimens, and patient-reported outcomes to identify complications and unmet needs in patient care. Patients with childhood-onset pituitary, adrenal, or gonadal disorders, such as craniopharyngioma, congenital adrenal hyperplasia (CAH), and Turner syndrome were prioritized. The planned enrollment is 1,300 patients during the first study phase (2022–2024). Clinical, biochemical, and imaging data from diagnosis, treatment, and follow-up during 1980–2023 were retrospectively reviewed. For patients who agreed to participate in the prospective cohort, clinical data and biospecimens will be prospectively collected to discover ideal biomarkers that predict the effectiveness of disease control measures and prognosis. Patient-reported outcomes, including quality of life and depression scales, will be evaluated to assess psychosocial outcomes. Additionally, a substudy on CAH patients will develop a steroid hormone profiling method using liquid chromatography-tandem mass spectrometry to improve diagnosis and monitoring of treatment outcomes. This study will address unmet clinical needs by discovering ideal biomarkers, introducing evidence-based treatment guidelines, and ultimately improving long-term outcomes in the areas of rare endocrine and metabolic diseases.

This manuscript represents the official position of the Korean Society of Echocardiography on valvular heart diseases.This position paper focuses on the diagnosis and management of valvular heart diseases with referring to the guide‑ lines recently published by the American College of Cardiology/American Heart Association and the European Society of Cardiology. The committee sought to reflect national data on the topic of valvular heart diseases published to date through a systematic literature search based on validity and relevance. In the part II of this article, we intend to pre‑ sent recommendations for diagnosis and treatment of mitral valve disease and tricuspid valve disease.

Background: This study aimed to investigate the cardiac manifestations of coronavirus disease 2019 (COVID-19). Methods: From February to March 2020, we prospectively and retrospectively enrolled consecutive patients diagnosed with COVID-19. Patient's data such as the demographic characteristics, symptoms, vital signs, laboratory and radiologic findings, electrocardiographic, and echocardiographic data, including the global longitudinal strain (GLS) of both ventricles, were obtained. Results: Forty patients (median age, 58 years; 50% men) were enrolled in the initial analysis. Patients were classified into severe and nonsevere groups based on the current guidelines. The 13 patients in the severe group were significantly older, had a greater prevalence of bilateral pneumonia and leukocytosis, and higher aspartate transaminase levels than patients in the nonsevere group. Patients in the severe group had a slightly lower left ventricular ejection fraction (LVEF) than those in the nonsevere group (median [interquartile range], 61.0% [58.5%, 62.3%] vs. 66.7% [60.6%, 69.8%], P = 0.015). In a subgroup of 34 patients in whom GLS could be analyzed, patients in the severe group had a significantly impaired left ventricular GLS (LVGLS) than those in the nonsevere group (−18.1% [−18.8%, −17.1%] vs. −21.7% [−22.9%, −19.9%], P = 0.001). There were no significant differences in total wall (RVGLS total , −19.3% [−23.9%, −18.4%] vs. −24.3% [−26.0%, −22.6%], P = 0.060) and free wall (RVGLS fw , −22.7% [−27.2%, −18.6%] vs. −28.8% [−30.4%, −24.1%], P = 0.066) right ventricle GLS (RVGLS). Conclusion Patients with severe COVID-19 had lower LVEF and LVGLS. RVGLS was not different between patients with severe and nonsevere COVID-19.

The General Rules for the Study of Primary Liver Cancer was published in June 2001 as the first edition. Since then, the 5th edition of the General Rules for the Study of Primary Liver Cancer was published by the 17th Committee of the Korean Liver Cancer Association based on the most recent data. The 5th edition of the General Rules for the Study of Primary Liver Cancer ranged over numerous topics such as anatomy, medical assessment of the patients, staging of hepatocellular carcinoma, description of the image findings, summary of hepatic resection, description of the surgical specimens, liver transplantation, reporting the pathological findings, pathological examinations of liver specimen, non-surgical treatment, radiotherapy, and assessment of tumor response after non-surgical treatment of hepatocellular carcinoma. The 5th General Rules for the Study of Primary Liver Cancer will not only become the basis of academic development for liver cancer studies in Korea, but also serve as the primary form of national liver cancer data accumulation based on standardized rules.
Carcinoma, Hepatocellular ; Humans ; Korea ; Liver Neoplasms* ; Liver Transplantation ; Liver* ; Radiotherapy

BACKGROUND: Because conventional echocardiographic parameters have several limitations, strain echocardiography has often been introduced in clinical practice. However, there are also obstacles in using it in clinical practice. Therefore, we wanted to find the current status of awareness on using strain echocardiography in Korea. METHODS: We conducted a nationwide survey to evaluate current use and awareness of strain echocardiography from the members of the Korean Society of Echocardiography. RESULTS: We gathered total 321 questionnaires from 25 cardiology centers in Korea. All participants were able to perform or interpret echocardiographic examinations. All participating institutions performed strain echocardiography. Most of our study participants (97%) were aware of speckle tracking echocardiography and 185 (58%) performed it for clinical and research purposes. Two-dimensional strain echocardiography was the most commonly used modality and left ventricle (LV) was the most commonly used cardiac chamber (99%) for clinical purposes. Most of the participants (89%) did not think LV strain can replace LV ejection fraction (LVEF) in their clinical practice. The common reasons for not performing routine use of strain echocardiography was diversity of strain measurements and lack of normal reference value. Many participants had a favorable view of the future of strain echocardiography. CONCLUSION: Most of our study participants were aware of strain echocardiography, and all institutions performed strain echocardiography for clinical and research purposes. However, they did not think the LV strain values could replace LVEF. The diversity of strain measurements and lack of normal reference values were common reasons for not using strain echocardiography in clinical practice.
Cardiology ; Echocardiography* ; Heart Ventricles ; Korea* ; Reference Values

Odontogenic cells express many genes spatiotemporally through complex and intricate processes during tooth formation. Therefore, investigating them during the tooth development has been an important subject for the better understanding of tooth morphogenesis. The present study was performed to identify the genetic profiles which are involved in the morphological changes during the different stages of rat tooth development using the Agilent Rat Oligonucleotide Microarrays. Morphologically, the maxillary 3rd molar germ at 10 days post-partum (dpp) was at the cap/bell stage. In contrast, the maxillary 2nd molar germ showed the root development stage. After microarray analysis, there were a considerable number of up- or down-regulated genes in the 3rd and the 2nd molar germ cells during tooth morphogenesis. Several differentially expressed genes for nerve supply were further studied. Among them, neuroligin 1 (Nlgn 1) was gradually downregulated during tooth development both at the transcription and the translation level. Also, Nlgn 1 was mostly localized in the dental sac, which is an important component yielding the nerve supply. This genetic profiling study proposed that many genes may be implicated in the biological processes for the dental hard tissue formation and, furthermore, may allow the identification of the key genes involved in the nerve supply to the dental sac.
Animals ; Biological Processes ; Dental Sac ; Gene Expression Profiling* ; Gene Expression* ; Germ Cells ; Microarray Analysis ; Molar ; Morphogenesis ; Oligonucleotide Array Sequence Analysis ; Rats* ; Tooth*

Acute generalized exanthematous pustulosis (AGEP) is a rare disease characterized by multiple acute, small, non-follicular, sterile pustules on an erythematous background, usually accompanied by fever and leukocytosis. AGEP is attributed to systemic drugs, mainly beta-lactam and macrolide antimicrobials, in more than 90% of cases. Systemic contact dermatitis is not rare after ingesting lacquer broth, but few reported cases of AGEP have occurred after the ingestion of lacquer chicken broth without a past history of drugs, viral infection, or contact allergy to mercury. Here, we report a rare case of AGEP with a pattern of septic shock induced by the intake of lacquer chicken in a 40-year-old male patient. He developed a generalized pustular lesion with high fever and hypotension. Histologic examination showed subcorneal neutrophilic pustules, papillary dermal edema, and lymphohistiocytic perivascular infiltrates with some eosinophils and neutrophils. The patient was treated with empirical antibiotics and systemic steroids, and the pustular lesions improved 2 weeks later without recurrence.
Acute Generalized Exanthematous Pustulosis ; Adult ; Anti-Bacterial Agents ; Chickens ; Dermatitis, Contact ; Eating ; Edema ; Eosinophils ; Fever ; Humans ; Hypersensitivity ; Hypotension ; Lacquer ; Leukocytosis ; Male ; Neutrophils ; Rare Diseases ; Recurrence ; Shock, Septic ; Steroids

OBJECTIVES: Improvement of liver synthetic function and the incidence of complication in the patients with hepatitis B-related liver cirrhosis is important. In this study, we study whether antiviral therapy was effective in patients with hepatitis B-related liver cirrhosis. METHODS: 103 patients with hepatitis B-related liver cirrhosis treated with lamivudine 100mg daily over 6 months and followed up over 30 months. 71 patients were positive for serum HBeAg. HBeAg, HBV DNA , CBC, prothrombin time, biochemistry, ultrasonography and endoscopy were tested every 6 months. RESULTS: The medians of ALT, albumin improved after 6 months and then aggravated after 18 months, but they didn't aggravated at 30 months compared with initial test. The median of Child-turcotte-pugh (CTP) score imporved after 6 months and then aggravated after 12 months, but they didn't aggravated at 30 months compared with initial test. The CTP score improved (2 point reduction) in 29 patients. The finding of ultrasonography didn't aggravaed (improved or didn't changed) in 58 patients. The 5 year incidence rate of hepatocelluar carcinoma was 8.3%. CONCLUSIONS: The antiviral therapy in patients with hepatitis B-related liver cirrhosis is improved CTP score and biochmical data. The improvement is more useful in decompensated cirrhosis the compensated cirrhosis. The incidence of hepatocellular carcinoma decreases than other studies. Therefore, the antiviral medication in patients with hepatitis B-related liver cirrhosis is helpful to consider more aggressively.
Antiviral Agents ; Biochemistry ; Carcinoma, Hepatocellular ; Cytidine Triphosphate ; DNA ; Endoscopy ; Fibrosis ; Hepatitis ; Hepatitis B e Antigens ; Hepatitis B, Chronic ; Humans ; Incidence ; Lamivudine ; Liver ; Liver Cirrhosis ; Prothrombin Time