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.

The outbreak of coronavirus disease 2019 (COVID-19), which began in December 2019, is still ongoing in Korea, with >9,000 confirmed cases as of March 25, 2020. COVID-19 is a severe acute respiratory syndrome Coronavirus 2 (SARS-CoV-2) infection, and real-time reverse transcription-PCR is currently the most reliable diagnostic method for COVID-19 around the world. Korean Society for Laboratory Medicine and the Korea Centers for Disease Prevention and Control propose guidelines for diagnosing COVID-19 in clinical laboratories in Korea. These guidelines are based on other related domestic and international guidelines, as well as expert opinions and include the selection of test subjects, selection of specimens, diagnostic methods, interpretation of test results, and biosafety.

Novel H5N6 highly pathogenic avian influenza viruses (HPAIVs) were isolated from duck farms and migratory bird habitats in South Korea in November to December 2017. Genetic analysis demonstrated that at least two genotypes of H5N6 were generated through reassortment between clade 2.3.4.4 H5N8 HPAIVs and Eurasian low pathogenic avian influenza virus in migratory birds in late 2017, suggesting frequent reassortment of clade 2.3.4.4 H5 HPAIVs and highlighting the need for systematic surveillance in Eurasian breeding grounds.
Agriculture ; Animals ; Birds ; Breeding ; Ducks ; Ecosystem ; Genetic Heterogeneity ; Genotype ; Influenza in Birds ; Korea

Bacillus (B.) anthracis, the etiological agent of anthrax, is one of the most genetically monomorphic bacteria species in the world. Due to the very limited genetic diversity of this species, classification of isolates of this bacterium requires methods with high discriminatory power. Single nucleotide repeat (SNR) analysis is a type of variable-number tandem repeat assay that evaluates regions with very high mutation rates. To subtype a collection of 21 isolates that were obtained during a B. anthracis outbreak in Korea, we analyzed four SNR marker loci using nucleotide sequencing analysis. These isolates were obtained from soil samples and the Korean Center for Disease Control and Prevention. The SNR analysis was able to detect 13 subgenotypes, which allowed a detailed evaluation of the Korean isolates. Our study demonstrated that the SNR analysis was able to discriminate between strains with the same multiple-locus variable-number tandem repeat analysis genotypes. In summary, we obtained SNR results for four SNR marker loci of newly acquired strains from Korea. Our findings will be helpful for creating marker systems and help identify markers that could be used for future forensic studies.
Bacillus anthracis/*classification/*genetics/isolation & purification ; *Genetic Variation ; *Minisatellite Repeats ; Polymerase Chain Reaction/veterinary ; Republic of Korea ; Sequence Analysis, DNA/*methods/veterinary ; *Soil Microbiology

Left atrial wall calcification is frequently observed in patients with rheumatic valvular heart disease. However, massive left atrial wall calcification, so called porcelain or coconut atrium, with left atrium thrombi is very rare. Here, we describe the case of a 67-year-old male patient with porcelain atrium, recurrent left atrial thrombi, and a spontaneous axillary hematoma after mitral valve replacement and surgical thrombectomy due to rheumatic valvular heart disease. The patient underwent two valvular surgeries 20 years prior; therefore, we determined not to perform additional surgeries because of a high risk of morbidity, mortality, and the recurrence of atrial thrombi. The patient has been maintained on daily warfarin as an anti-thrombic therapy for more than 5 years without major embolic complications.
Aged ; Cocos ; Dental Porcelain ; Heart Atria ; Heart Valve Diseases ; Hematoma ; Humans ; Male ; Mitral Valve ; Recurrence ; Thrombectomy ; Thrombosis ; Warfarin

Bacillus (B.) anthracis is the pathogen that causes fatal anthrax. Strain-specific detection of this bacterium using molecular approaches has enhanced our knowledge of microbial population genetics. In the present study, we employed molecular approaches including multiple-locus variable-number tandem repeat analysis (MLVA) and canonical single-nucleotide polymorphism (canSNP) analysis to perform molecular typing of B. anthracis strains isolated in Korea. According to the MLVA, 17 B. anthracis isolates were classified into A3a, A3b, and B1 clusters. The canSNP analyses subdivided the B. anthracis isolates into two of the three previously recognized major lineages (A and B). B. anthracis isolates from Korea were found to belong to four canSNP sub-groups (B.Br.001/2, A.Br.005/006, A.Br.001/002, and A.Br.Ames). The A.Br.001/002 and A.Br.Ames sub-lineages are closely related genotypes frequently found in central Asia and most isolates were. On the other hand, B. anthracis CH isolates were analyzed that belonged to the B.Br.001/002 sub-group which found in southern Africa, Europe and California (USA). B.Br.001/002 genotype is new lineage of B. anthracis in Korea that was not found before. This discovery will be helpful for the creation of marker systems and might be the result of human activity through the development of agriculture and increased international trade in Korea.
Africa, Southern ; Agriculture ; Anthrax ; Asia ; Bacillus ; Bacillus anthracis ; California ; Europe ; Genetics, Population ; Genotype ; Hand ; Human Activities ; Molecular Typing ; Tandem Repeat Sequences

Left atrial wall calcification is frequently observed in patients with rheumatic valvular heart disease. However, massive left atrial wall calcification, so called porcelain or coconut atrium, with left atrium thrombi is very rare. Here, we describe the case of a 67-year-old male patient with porcelain atrium, recurrent left atrial thrombi, and a spontaneous axillary hematoma after mitral valve replacement and surgical thrombectomy due to rheumatic valvular heart disease. The patient underwent two valvular surgeries 20 years prior; therefore, we determined not to perform additional surgeries because of a high risk of morbidity, mortality, and the recurrence of atrial thrombi. The patient has been maintained on daily warfarin as an anti-thrombic therapy for more than 5 years without major embolic complications.
Aged ; Cocos ; Dental Porcelain ; Heart Atria ; Heart Valve Diseases ; Hematoma ; Humans ; Male ; Mitral Valve ; Recurrence ; Thrombectomy ; Thrombosis ; Warfarin

BACKGROUND: Atrial fibrillation (AF) is the most common cause of embolic cerebral infarction. This study was performed to determine new risk factors and the mechanism underlying thromboembolism (TE) in patients with AF. METHODS: 192 patients (M:F=137:55, 61+/-11 years) with AF were randomly selected and divided into a TE (n=95) and non-TE group (n=97). Another 71 patients with AF (M:F=38:33, 55+/-14) were studied for endothelial function by measuring the level of von Willebrand factor (vWF; factor 8 related antigen), inflammation by WBC, ESR, and high sensitive CRP and coagulation system by fibrinogen, fibrinogen degradation product and fibrin d-dimer; the results were compared with 25 patients with normal sinus rhythm. RESULTS: The TE group was older than non-TE group. Hypertension (HTN), diabetes mellitus (DM), hypercholesterolemia, smoking and fine AF (AF wave amplitude <1 mm) were more frequent in the TE group. Mitral valvular disease, an ejection fraction <40% and dilated cardiomyopathy were more frequent in the TE group and the left atrial (LA) dimension was greater in the TE group. The use of anticoagulants, an angiotensin-II receptor blocker and statins were less frequently observed in the TE group. The vWF-factor 8 related antigen was higher in patients with advanced age, LV dysfunction, HTN, DM, mitral stenosis and positively correlated with age, LA dimension, LV end-diastolic and end-systolic dimension, ejection fraction, NYHA class and AF duration. The fibrinogen level was positively correlated with age, NYHA class, LA dimension and d-dimer with NYHA class. Markers for inflammation or coagulation were not significantly different in the atrial fibrillation and the sinus rhythm group. CONCLUSIONS: No use of an angiotensin-II receptor blocker or statin and fine AF may be new risk factors for TE in patients with AF. The TE risk factors are thought to increase TE by impairing endothelial function.
Anticoagulants ; Atrial Fibrillation* ; Cardiomyopathy, Dilated ; Cerebral Infarction ; Diabetes Mellitus ; Fibrin ; Fibrinogen ; Humans ; Hydroxymethylglutaryl-CoA Reductase Inhibitors ; Hypercholesterolemia ; Hypertension ; Inflammation ; Mitral Valve Stenosis ; Risk Factors* ; Smoke ; Smoking ; Thromboembolism ; von Willebrand Factor