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.

Background: s: The severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2) has spread worldwide. Cardiac injury after SARS-CoV-2 infection is a major concern. The present study investigated impact of the biomarkers indicating cardiac injury in coronavirus disease 2019 (COVID-19) on patients' outcomes. Methods: This study enrolled patients who were confirmed to have COVID-19 and admitted at a tertiary university referral hospital between February 19, 2020 and March 15, 2020. Cardiac injury was defined as an abnormality in one of the following result markers: 1) myocardial damage marker (creatine kinase-MB or troponin-I), 2) heart failure marker (N-terminal-pro B-type natriuretic peptide), and 3) electrical abnormality marker (electrocardiography). The relationship between each cardiac injury marker and mortality was evaluated. Survival analysis of mortality according to the scoring by numbers of cardiac injury markers was also performed. Results: A total of 38 patients with COVID-19 were enrolled. Twenty-two patients (57.9%) had at least one of cardiac injury markers. The patients with cardiac injuries were older (69.6 ± 14.9 vs. 58.6 ± 13.9 years old, P = 0.026), and were more male (59.1% vs. 18.8%, P = 0.013).They showed lower initial oxygen saturation (92.8 vs. 97.1%, P = 0.002) and a trend toward higher mortality (27.3 vs. 6.3%, P = 0.099). The increased number of cardiac injury markers was significantly related to a higher incidence of in-hospital mortality which was also evidenced by Kaplan-Meier survival analysis (P = 0.008). Conclusion The increased number of cardiac injury markers is related to in-hospital mortality in patients with COVID-19.

Acute necrotizing esophagitis (AEN), also called "black esophagus," is a rare disorder with an unknown pathogenesis. Endoscopic findings generally show black pigmentation throughout the esophagus. This case also offered rare views of the gross anatomy of this disorder. Histological examination revealed that the mucosal and submucosal layers of the esophagus were involved in the severe necrotizing inflammation. The chief manifestation of this disease is hematemesis from hemorrhage of the upper gastrointestinal tract with a typically multifactorial etiology. AEN is also characterized by a clear boundary at the gastroesophageal junction where the necrosis stops. In this study, we report an autopsy case of a 61-year-old man with necrotizing inflammation throughout the esophagus and esophageal necrosis from the laryngopharynx to the gastroesophageal junction. The patient was a disabled person with a history of alcohol abuse who was also diagnosed with mild coronary arteriosclerosis and fatty liver on the basis of the underlying diseases. In this case, the main etiology for poor perfusion from the distal esophageal area was likely underlying illness, history of alcoholism, and malnutrition.
Alcoholism ; Autopsy* ; Coronary Artery Disease ; Disabled Persons ; Esophagitis* ; Esophagogastric Junction ; Esophagus ; Fatty Liver ; Hematemesis ; Hemorrhage ; Humans ; Hypopharynx ; Inflammation ; Malnutrition ; Middle Aged ; Necrosis ; Perfusion ; Pigmentation ; Upper Gastrointestinal Tract

In old age, a traumatic pulmonary pseudocyst is an extremely rare condition that generally develops after blunt chest trauma. It is more common among pediatric and young adult patients. We report three elderly patients who presented with chest symptoms after blunt chest trauma and whose computed tomography showed post-traumatic pulmonary pseudocysts.
Aged ; Humans ; Thoracic Injuries ; Thorax ; Young Adult

Transvenous left ventricular (LV) lead implantation is on the increase due to cardiac resynchronization therapy (CRT). However, there has been paucity of data on the prognosis of LV lead. Consecutive 32 patients with LV lead for CRT (n=22) or pacemaker (n=10) were subjected. Serial changes in pacing threshold and impedance along with lead-related complications were evaluated. Over 2 yr follow-up, there was no significant change in relative threshold voltage to the initial value (100%, 110%, 89.6%, and 79.6% at baseline, 1, 6, and 24 months respectively, P=0.62) as well as lead impedance (816+/-272, 650+/-178, 647+/-191, and 590+/-185 ohm at baseline, 1, 6, and 24 months respectively, P=0.80). The threshold change was not affected by lead position, lead polarity, and indication of lead implantation. The cumulative rates of lead revision were 6.3% (n=2) and 9.4% (n=3) in 6 month and 2 yr follow-up, respectively. One case of phrenic nerve capture at left lateral decubitus position was detected 1 month after the implantation. However, there were no serious complications over 2 yr period. In conclusion, transvenous LV lead implantation showed favorable long-term prognosis. Pacing parameters remained stable without significant changes over 2 yr follow-up.
Adult ; Aged ; Analysis of Variance ; Cardiac Electrophysiology ; Cardiac Resynchronization Therapy ; *Cardiac Resynchronization Therapy Devices ; Female ; Follow-Up Studies ; *Heart Ventricles ; Humans ; Male ; Middle Aged ; Multivariate Analysis ; Prognosis ; Ventricular Dysfunction, Left/therapy

We determined the genetic diversity and distance between Jeju and Thoroughbred horses by genotyping for 20 microsatellite loci consisting of (TG)n repetitive sequence. The expected heterozygosity ranged from 0.1 to 0.789 in the Jeju horses and from 0.505 to 0.824 in the Thoroughbred horses. Polymorphic information content (PIC) values ranged from 0.09 to 0.709 in the Jeju horses and 0.365 to 0.730 in Thoroughbred horses. There were no significant differences in heterozygosity and PIC values between Jeju and Thoroughbred horsesHowever, LEX035 was estimated relatively high heterozygosity (0.789) and PIC value 0.709) in Jeju horses and LEX050 was respectively 0.824, and 0.730 in the Thoroughbred horses. We may conclude that the genetic differentiation was low between Jeju and Thoroughbred horses. LEX 050, LEX055, LEX059 and LEX 063 could be used as geneticmarkers for differentiating Jeju from Thoroughbred horses.
DNA ; Genetic Markers ; Genetic Variation ; Horses ; Korea ; Microsatellite Repeats ; Polymorphism, Genetic ; Repetitive Sequences, Nucleic Acid

BACKGROUND: The imaging system that's currently being used in the field of dermatology is based on such instruments as the dermoscope, phototrichograph and camera. In recent years, the use of an image magnification system based on polarization has become popular. OBJECTIVE: In this study, optical quantification was performed based on the multiwavelength imaging analysis of the structures that form dermatologic diseases, and an attempt was made to enhance the image quality by using polarization technology. METHODS: The lesions of three patients who were clinically diagnosed with cherry angioma, melanocytic nevus and inflammatory lesions in acne and freckles were measured at the outpatient clinic of the Department of Dermatology of the authors' hospital. All the patients were female, and their mean age was 29.3 years. RESULTS: The optical characteristics of the patients' various skin lesions, including cherry angioma, melanocytic nevus and inflammatory lesions in acne and freckles, were distinguishable by their wavelength. CONCLUSION: The use of different kinds of information may be helpful for measuring and diagnosing various skin lesions that have not been differentiated with using the previous modalities. Further, if the various environmental factors that may be generated during the measurement process can be controlled, then these study results can be applied to a standard diagnostic modality in the field of dermatology.
Acne Vulgaris ; Ambulatory Care Facilities ; Dermatology ; Female ; Hemangioma ; Humans ; Melanosis ; Nevus, Pigmented ; Prunus ; Skin

BACKGROUND AND OBJECTIVES: Endothelial dysfunction and increased vascular inflammation may be associated with variant angina (VA). However, their exact roles remain to be clarified. The aim of the presents study is to investigate whether the level of inflammation markers and the flow-mediated dilation (FMD) are related to VA. SUBJECTS AND METHODS: The study included 46 patients (VA group: 53.9+/-12.0 years, 20 males) with positive spasm provocation tests and they were without significant coronary stenosis, and 14 patients (control group: 46.6+/-13.5 years, 7 males) with negative spasm provocation tests and they were without significant coronary stenosis. The clinical characteristics and inflammatory markers, including the high sensitive C-reactive protein (hsCRP) level, the monocyte count and the von Willebrand factor (vWF) level, and the FMD were compared between the two groups. The FMD and inflammatory markers were measured in the morning before performing the ergonovine provocation coronary angiogram. RESULTS: The level of vWF was significantly higher in the VA group than in the control group (166.5+/-41.9% vs. 118.0+/-65.3%, respectively, p=0.029). The FMD was significantly decreased in the VA group compared with the control group (9.2+/-4.3% vs. 12.4+/-4.2%, respectively, p=0.021). Nitrate-mediated dilation did not differ between the two groups. The levels of the monocyte count, hs-CRP and homocysteine were higher in the VA group than in the control group (554.7+/-261.0/mm3 vs. 440.7+/-136.0/mm3, respectively, p=0.039; 0.3+/-0.4 mg/dL vs. 0.1+/-0.1 mg/dL, respectively, p=0.029; 7.54+/-4.0micronmol/L vs. 5.92+/-1.6micronmol/L, respectively, p=0.033). CONCLUSION: The results of this study suggested that increased inflammatory markers and endothelial dysfunction may be associated with variant angina.
Angina Pectoris ; C-Reactive Protein ; Coronary Stenosis ; Endothelium ; Ergonovine ; Homocysteine ; Humans ; Inflammation ; Monocytes ; Spasm ; von Willebrand Factor