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 report presents the case of a 49-year-old man who presented with giant masses that had recently grown on the bilateral sides of the tongue. A clinical examination revealed rubbery yellowish lesions protruding from the tongue.A panoramic radiograph showed an enlarged soft tissue shadow of the tongue. Computed tomography showed well-defined circumscribed mass exhibiting a homogeneous low density on the bilateral sides of the tongue. On magnetic resonance images, the masses showed a high signal intensity on T1-weighted images and iso-signal intensity with partially hyperintense margin on fat-suppressed T2-weighted images. Surgical excision was performed, and a histopathologic examination confirmed the diagnosis of lipoma. The patient recovered well with no sign ofrecurrence. A giant lipoma is defined as a lipoma larger than 5 cm in diameter. A literature review of giant lipomas of the tongue is also presented herein.

Objective: To assess the relevance of electrodiagnosis (EDX) in the cross-sectional area (CSA) of the nerve root of patients with cervical radiculopathy (CR) by using high-resolution ultrasonography (HRUS). Methods: The CSAs of the cervical nerve roots at C5, C6, and C7 were measured bilaterally using HRUS in 29 patients with unilateral CR whose clinical symptoms, magnetic resonance imaging (MRI) findings, and EDX results: corresponded with each other (CR-A group), and in 26 patients with unilateral CR whose clinical symptoms and MRI findings matched with each other but did not correspond with the EDX findings (CR-B group). Results The CSA of the affected side in each nerve root was significantly larger than that of the unaffected side in both the CR-A and CR-B groups. The side-to-side difference in the bilateral CSAs of the nerve root and the ratio of the CSAs between the unaffected and affected sides were statistically larger in the CR-A group than in the CR-B group. Conclusion The increased CSAs in the CR-A group reflect the physiological changes of the cervical nerve root, which is supported by the EDX findings.

Objective: To assess the relevance of electrodiagnosis (EDX) in the cross-sectional area (CSA) of the nerve root of patients with cervical radiculopathy (CR) by using high-resolution ultrasonography (HRUS). Methods: The CSAs of the cervical nerve roots at C5, C6, and C7 were measured bilaterally using HRUS in 29 patients with unilateral CR whose clinical symptoms, magnetic resonance imaging (MRI) findings, and EDX results: corresponded with each other (CR-A group), and in 26 patients with unilateral CR whose clinical symptoms and MRI findings matched with each other but did not correspond with the EDX findings (CR-B group). Results The CSA of the affected side in each nerve root was significantly larger than that of the unaffected side in both the CR-A and CR-B groups. The side-to-side difference in the bilateral CSAs of the nerve root and the ratio of the CSAs between the unaffected and affected sides were statistically larger in the CR-A group than in the CR-B group. Conclusion The increased CSAs in the CR-A group reflect the physiological changes of the cervical nerve root, which is supported by the EDX findings.

A 16-year-old male presented with pain in the right posterior mandible on chewing that had lasted for several months. The radiographic features of the lesion included a radiolucent-radiopaque mixed-density mass with a radiolucent rim attached to the root of the mandibular right first molar. The preliminary radiographic diagnosis was benign cementoblastoma, which was confirmed by histopathological examination following surgical excision. The lesion recurred 3 years after treatment; radiographically, it consisted of 3 round foci with mixed radiopacity, each with a radiolucent rim near the root of the mandibular right second premolar and the edentulous postoperative region. The lesion was diagnosed as recurrent benign cementoblastoma and a second surgery was scheduled. This report presented an unusual case of recurrent benign cementoblastoma following surgical excision and extraction of the involved tooth, along with a literature review on reported cases of recurrent benign cementoblastoma with a focus on its clinical features and the best treatment options.

Background: This study aimed to explore the time interval distribution pattern between the Physicians Order for Life-Sustaining Treatment (POLST) form completion and death at a tertiary hospital in South Korea. It also examined the association between various independent parameters and POLST form completion timing. Methods: A total of 150 critically ill patients admitted to Korea University Guro Hospital between June 1, 2018 and December 31, 2018 who completed the POLST form were retrospectively analyzed and included in this study. Data were analyzed with descriptive statistics, and group comparisons were performed using the chi-square test for categorical variables. Fisher’s exact test was also used to compare cancer versus non-cancer groups. Results: More than half the decedents (54.7%) completed their POLST within 15 days of death and 73.4% within 30 days. The non-cancer group had the highest percentage of patients (77.8%) who died within 15 days of POLST form completion while the colorectal (39.1%) and other cancer (37.5%) groups had the lowest (P=0.336). Conclusion Our findings demonstrated a current need for more explicit guidance to assist physicians with initiating more timely, proactive end-of-life discussions.

OBJECTIVE: To determine anatomical variation of the sural nerve (SN) by ultrasonography (US) and compare sensory nerve action potential (SNAP) of the SN obtained by a control method to that obtained with adjusted method using US. METHODS: Eighty legs of 40 healthy volunteers were enrolled. The location and formation of SN were investigated through US. Two methods of nerve conduction study (NCS) were then performed. In the control method, the cathode was placed 14 cm proximal to the lateral malleolus and the greatest SNAP amplitude was obtained by moving the cathode medially or laterally from just lateral to the calf-mid line. In adjusted NCS, the exact SN union site was stimulated in type 1. In other SN types, the stimulation was done directly over the nerve and the distance from the lateral malleolus was set to be 14 cm. RESULTS: It was found that 73.8% of the SNs were type 1, 22.5% were direct continuation of MSCN (type 2), and 3.8% were MSCN and LSCN without communicating (type 4). However, type 3 was not found. The union point in type 1 SN was 12.6±2.5 cm proximal to the lateral malleolus and 1.4±0.7 cm lateral to the calf-midline. After stimulation adjustment, SNAP amplitude in type 1 SN was significantly increased (20.7±5.5 μV vs. 27.1±6.7 μV). CONCLUSION: Anatomical variation of SN and its location were verified by US. US provides additional information for conducting sural NCS and helps obtain more accurate results.
Action Potentials ; Electrodes ; Healthy Volunteers ; Leg ; Methods ; Neural Conduction ; Sural Nerve ; Ultrasonography

The herbal formula, DF-02, consisting of Ephedra intermedia and Rheum palmatum are used for the treatment of the metabolic diseases such as obesity and liver fibrosis in Korean local clinics. We aimed to develop the simultaneous analytical conditions for four standards, (+)-pseudoephedrine (PSEP) and (−)-ephedrine (EP) for E. intermedia, and aloe-emodin (AE) and chrysophanol (CP) for R. palmatum using HPLC-UV techniques. The validated conditions yielded the high precision (relative standard deviation (RSD) < 3.65%) and the recoveries (94 – 106%) using the calibration curves with high linearity (R² > 0.9994). As a result, four standards of DF-02 were simultaneously determined under the developed method, which will be utilized for the quality control or evaluation of DF-02 and many herbal preparations containing E. intermedia and R. palmatum.
Calibration ; Chromatography, High Pressure Liquid ; Ephedra ; Liver Cirrhosis ; Metabolic Diseases ; Methods ; Obesity ; Plant Preparations ; Quality Control ; Rheum