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/Aims: Sepsis-3 criteria and quick Sequential Organ Failure Assessment (qSOFA) have been advocated to be used in defining sepsis in the general population. We aimed to compare the Sepsis-3 criteria and Chronic Liver Failure-SOFA (CLIF-SOFA) scores as predictors of in-hospital mortality in cirrhotic patients admitted to the emergency department (ED) for infections. Methods: A total of 1,622 cirrhosis patients admitted at the ED for infections were assessed retrospectively. We analyzed their demographic, laboratory, and microbiological data upon diagnosis of the infection. The primary endpoint was inhospital mortality rate. The predictive performances of baseline CLIF-SOFA, Sepsis-3, and qSOFA scores for in-hospital mortality were evaluated. Results: The CLIF-SOFA score proved to be significantly better in predicting in-hospital mortality (area under the receiver operating characteristic curve [AUROC], 0.80; 95% confidence interval [CI], 0.78–0.82) than the Sepsis-3 (AUROC, 0.75; 95% CI, 0.72–0.77, P<0.001) and qSOFA (AUROC, 0.67; 95% CI, 0.64–0.70; P<0.001) score. The CLIF-SOFA, CLIF-C-AD scores, Sepsis-3 criteria, septic shock, and qSOFA positivity were significantly associated with in-hospital mortality (adjusted hazard ratio [aHR], 1.24; 95% CI, 1.19–1.28; aHR, 1.13; 95% CI, 1.09–1.17; aHR, 1.19; 95% CI, 1.15–1.24; aHR, 1.88; 95% CI, 1.42–2.48; aHR, 2.06; 95% CI, 1.55–2.72; respectively; all P<0.001). For CLIF-SOFA scores ≥6, in-hospital mortality was >10%; this is the cutoff point for the definition of sepsis. Conclusions Among cirrhosis patients presenting with infections at the ED, CLIF-SOFA scores showed a better predictive performance for mortality than both Sepsis-3 criteria and qSOFA scores, and can be a useful tool of risk stratification in cirrhotic patients requiring timely intervention for infection.

Background: To track triage, routing, and treatment status regarding access to endovascular treatment (EVT) after acute ischemic stroke (AIS) at a national level. Methods: From national stroke audit data, potential candidates for EVT arriving within 6 hours with National Institute of Health Stroke Scale score of ≥ 7 were identified. Acute care hospitals were classified as thrombectomy-capable hospitals (TCHs, ≥ 15 EVT cases/year) or primary stroke hospital (PSH, < 15 cases/year), and patients' initial routes and subsequent inter-hospital transfer were described. Impact of initial routing to TCHs vs. PSHs on EVT and clinical outcomes were analyzed using multilevel generalized mixed effect models. Results: Out of 14,902 AIS patients, 2,180 (14.6%) were EVT candidates. Eighty-one percent of EVT candidates were transported by ambulance, but only one-third were taken initially to TCHs. Initial routing to TCHs was associated with greater chances of receiving EVT compared to initial routing to PSHs (33.3% vs 12.1%, P < 0.001; adjusted odds ratio [aOR], 2.21; 95% confidence interval [CI], 1.59–2.92) and favorable outcome (38.5% vs. 28.2%, P < 0.001; aOR, 1.52; 95% CI, 1.16–2.00). Inter-hospital transfers to TCHs occurred in 17.4% of those initially routed to a PSH and was associated with the greater chance of EVT compared to remaining at PSHs (34.8% vs. 7.5%, P < 0.001), but not with better outcomes. Conclusion Two-thirds of EVT candidates were initially routed to PSHs despite greater chance of receiving EVT and having favorable outcomes if routed to a TCH in Korea. Process improvement is needed to direct appropriate patients to TCHs.

PURPOSE: We investigated the sensitivity of various evaluating modalities in predicting a pathologic complete response (pCR) after preoperative chemoradiation therapy (PCRT) for locally advanced rectal cancer (LARC). METHODS: From a population of 2,247 LARC patients who underwent PCRT followed by surgery at Asan Medical Center, Seoul, Korea from January 2007 to June 2016, we retrospectively analyzed 313 patients (14.1%) who showed a pCR after surgery. Transrectal ultrasound (TRUS), high-resolution magnetic resonance imaging (MRI), abdominopelvic computed tomography (AP-CT), and endoscopy were performed within 2 weeks prior to surgery. RESULTS: Of the 313 patients analyzed, 256 (81.8%) had a pCR after radical surgery and 57 (18.2%) showed total regression after local excision. Preoperative TRUS, MRI, and AP-CT were performed in 283, 305, and 139 patients, respectively. Among these 3 groups, a prediction of a pCR of the primary tumor was made in 41 (14.5%), 51 (16.7%), and 27 patients (19.4%), respectively, before surgery. A prediction of a clinical N0 stage was made in 204 patients (88.3%) using TRUS, 130 (52.2%) using MRI, and 78 (65.5%) using AP-CT. Of the 211 patients who underwent endoscopy, 87 (41.2%) had a mention of clinical CR in their records. A prediction of a pathologic CR was made for 124 patients (39.6%) through at least one diagnostic modality. CONCLUSION: The various evaluation methods for predicting a pCR after PCRT show a predictive sensitivity of 0.15–0.41 for primary tumors and 0.52–0.88 for lymph nodes. Endoscopy is a relatively superior modality for predicting the pCR of the primary tumor of LARC patients.
Chungcheongnam-do ; Endoscopy ; Humans ; Korea ; Lymph Nodes ; Magnetic Resonance Imaging ; Polymerase Chain Reaction ; Rectal Neoplasms ; Retrospective Studies ; Seoul ; Ultrasonography

OBJECTIVES: This study was conducted to assess the current management status of the vestibular function test laboratories in Korea. METHODS: Questionnaire about the management status of the vestibular function test laboratories was sent by email to the entire members of the Korean Balance Society. The contents of questionnaire included situation of employees who perform the tests, the types of vestibular function tests and equipment, frequency of the test and types of dizziness related questionnaires. RESULTS: Forty-nine hospitals and clinics responded. All the 49 respondents answered that they have videonystagmography. Spontaneous nystagmus analysis by videonystagmogrphy was the most frequently tests for patients with dizziness. Questionnaires for dizziness were used by 27 respondents (55.1%) for initial evaluation of the dizziness patients. The Korean version of dizziness handicap inventory was the most frequently used dizziness related questionnaire. CONCLUSIONS: We analyzed the current management status of vestibular function test laboratories to comprehend the present condition of the vestibular function test. We think that these results will help to provide a standard for laboratory operations and prepare for the education, focusing on high-demand tests.
Dizziness ; Education ; Electronic Mail ; Humans ; Korea ; Surveys and Questionnaires ; Vertigo ; Vestibular Function Tests

The original version of this article contained wrong informations of some authors which should be changed.

BACKGROUND AND PURPOSE: Nonmotor symptoms (NMS) in Parkinson's disease (PD) have multisystem origins with heterogeneous manifestations that develop throughout the course of PD. NMS are increasingly recognized as having a significant impact on the health-related quality of life (HrQoL). We aimed to determine the NMS presentation according to PD status, and the associations of NMS with other clinical variables and the HrQoL of Korean PD patients. METHODS: We surveyed patients in 37 movement-disorders clinics throughout Korea. In total, 323 PD patients were recruited for assessment of disease severity and duration, NMS, HrQoL, and other clinical variables including demographics, cognition, sleep scale, fatigability, and symptoms. RESULTS: In total, 98.1% of enrolled PD subjects suffered from various kinds of NMS. The prevalence of NMS and scores in each NMS domain were significantly higher in the PD group, and the NMS worsened as the disease progressed. Among clinical variables, disease duration and depressive mood showed significant correlations with all NMS domains (p<0.001). NMS status impacted HrQoL in PD (rS=0.329, p<0.01), and the association patterns differed with the disease stage. CONCLUSIONS: The results of our survey suggest that NMS in PD are not simply isolated symptoms of degenerative disease, but rather exert significant influences throughout the disease course. A novel clinical approach focused on NMS to develop tailored management strategies is warranted to improve the HrQoL in PD patients.
Cognition ; Demography ; Humans ; Korea ; Movement Disorders* ; Parkinson Disease* ; Prevalence ; Quality of Life*

The differential diagnosis of systemic lupus erythematosus (SLE) and autoimmune hepatitis (AIH) is difficult due to the resemblance of these two disorders. However, the accurate diagnosis is important for prognosis and treatment that are different from each other. We report a case of AIH-SLE overlap syndrome which tapering of prednisone and azathioprine therapy deteriorated the condition of a patient due to flare up of SLE. The patient was a 28-year-old woman diagnosed as AIH. After administrations of prednisone and azathioprine, her condition was improved. During dose reduction, she was admitted to our hospital as fever and dyspnea. She diagnosed as lupus nephritis. After high dose treatment with corticosteroids and azathioprine, she recovered. Once the diagnosis of autoimmune disease such as SLE or AIH has been made, clinicians should also be fully aware of concomitant other autoimmune disease.
Adrenal Cortex Hormones ; Adult ; Autoimmune Diseases ; Azathioprine ; Diagnosis ; Diagnosis, Differential ; Dyspnea ; Female ; Fever ; Hepatitis, Autoimmune ; Humans ; Lupus Erythematosus, Systemic ; Lupus Nephritis ; Prednisone ; Prognosis