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.

Angiosarcoma is a rare yet aggressive tumor that originates from endothelial cells lining the blood or lymphatic vessels. Angiosarcoma is commonly associated with radiotherapy, often developing as a secondary cancer following irradiation. In this report, we present a case of a 66-year-old woman who underwent a lumpectomy with adjuvant radiotherapy for left breast cancer 9 years ago. She was referred to our clinic due to erythematous nodules and papules on the left breast that developed 10 months prior. A cutaneous biopsy revealed irregular, anastomosing vessels lined by crowded swollen endothelial cells, exhibiting nuclear atypia. The immunohistochemical stains for alpha-smooth muscle actin and CD31 were positive, while the ki-67 index was elevated. However, the stain was negative for human herpesvirus 8. Clinical and histopathological features were consistent with angiosarcoma associated with adjuvant radiotherapy. The patient underwent a left total mastectomy with sentinel lymph node biopsy. However, 18 months later, multiple bone metastases were noted on positron emission tomography-computed tomography, and the patient received palliative radiotherapy and supportive care.

The Committee of Central Precocious Puberty of Korean Pediatrics and Adolescents of the Korean Society of Pediatric Endocrinology has newly developed evidence-based 2022 clinical practice guidelines for central precocious puberty in Korean children and adolescents. These guidelines provide the grade of recommendations, which includes both the strength of recommendations and the level of evidence. In the absence of sufficient evidence, recommendations are based on expert opinion. These guidelines have been revised and supplement the previous guidelines "Clinical Guidelines for Precocious Puberty 2011," and are drawn from a comprehensive review of the latest domestic and international research and the grade of recommendation appropriate to the domestic situation. This review summarizes the newly revised guidelines into 8 key questions and 27 recommendations and consists of 4 sections: screening, diagnosis, treatment, and long-term outcome of central precocious puberty.

BACKGROUND/AIMS: As numbers of maintenance hemodialysis patients are growing, debilitating conditions of muscle wasting and atrophy are becoming some of the greatest concerns in end-stage renal disease patients. Exercise training has various potential benefits in terms of prevention of a sustained decline in functional status. This study aimed to evaluate the physical, psychological, laboratory, and dialysis-related effects of intradialytic exercise. METHODS: We enrolled 22 patients from a hemodialysis center for a 6-month non-randomized prospective trial. Combination of aerobic exercise with bicycle ergometer and anaerobic exercise with elastic bands was conducted during hemodialysis. Data including physical fitness test results, dialysis-related measurements, and biochemical laboratory results were collected at baseline, 3, and 6 months. Depression and quality of life were assessed using Beck Depression Inventory and Short Form-36 health survey. RESULTS: After exercise completion, there were significant improvements in back muscle power, forward and backward trunk flexibility, vertical jump, elbow flexion, sit to stand test, and 6-minute walk test (p < 0.05). No significant changes were observed in dry weight, blood pressure, Kt/V, and biochemical variables, except for intradialytic hypotension (p < 0.05). For depression, Beck Depression Inventory showed statistically significant enhancement (p < 0.05). Scores of Short Form-36 health survey did not show significant increase in each domain, except for bodily pain (p < 0.05). CONCLUSIONS Combined aerobic and anaerobic exercise training during dialysis was found to be effective on physical health status, intradialytic hypotension, and depression in terms of mental health. Therefore, the findings of the current study may provide an appropriate guidance for encouraging exercise by nephrologists.

PURPOSE: To evaluate the therapeutic effect of human embryonic stem cell (hESC)-derived multipotent mesenchymal stem cells (M-MSCs) on ketamine-induced cystitis (KC) in rats. METHODS: To induce KC, 10-week-old female rats were injected with 25-mg/kg ketamine hydrochloride twice weekly for 12 weeks. In the sham group, phosphate buffered saline (PBS) was injected instead of ketamine. One week after the final injection of ketamine, the indicated doses (0.25, 0.5, and 1×106 cells) of M-MSCs (KC+M-MSC group) or PBS vehicle (KC group) were directly injected into the bladder wall. One week after M-MSC injection, the therapeutic outcomes were evaluated via cystometry, histological analyses, and measurement of gene expression. Next, we compared the efficacy of M-MSCs at a low dose (1×105 cells) to that of an identical dose of adult bone marrow (BM)-derived MSCs. RESULTS: Rats in the KC group exhibited increased voiding frequency and reduced bladder capacity compared to rats of the sham group. However, these parameters recovered after transplantation of M-MSCs at all doses tested. KC bladders exhibited markedly increased mast cell infiltration, apoptosis, and tissue fibrosis. Administration of M-MSCs significantly reversed these characteristic histological alterations. Gene expression analyses indicated that several genes associated with tissue fibrosis were markedly upregulated in KC bladders. However the expression of these genes was significantly suppressed by the administration of M-MSCs. Importantly, M-MSCs ameliorated bladder deterioration in KC rats after injection of a low dose (1×105) of cells, at which point BM-derived MSCs did not substantially improve bladder function. CONCLUSIONS: This study demonstrates for the first time the therapeutic efficacy of hESC-derived M-MSCs on KC in rats. M-MSCs restored bladder function more effectively than did BM-derived MSCs, protecting against abnormal changes including mast cell infiltration, apoptosis and fibrotic damage.
Adult ; Animals ; Apoptosis ; Bone Marrow ; Cystitis ; Female ; Fibrosis ; Gene Expression ; Human Embryonic Stem Cells ; Humans ; Ketamine ; Mast Cells ; Mesenchymal Stromal Cells ; Multipotent Stem Cells ; Pelvic Pain ; Rats ; Urinary Bladder

PURPOSE: To report the accuracy of intraocular lens (IOL) formulas according to axial length, anterior chamber depth, and mean corneal curvature when performing biometry with an immersion type A-scan with mannual keratomery and an IOL Master®. METHODS: Retrospective medical chart reviews were carried out for 82 eyes of 65 patients who underwent cataract surgery performed by a single surgeon. Biometry was performed using IOL Master®, mannual keratometry, and immersion type A-scan ultrasound in sequence. Prediction diopter was obtained using Sanders-Retzlaff-Kraff/Theoretical (SRK-T) and Holladay 1 formulas calculated with the biometric value measured by mannual keratomery and A-scan, and using SRK-T and, Holladay 2 formulas with IOL Master®. The final refractive outcome was determined as manifested refraction at least 7 weeks after the surgery, and it was compared with the preoperative prediction dipoter (D) of the IOL formulas. RESULTS: Mean axial length and mean keratomtric measurements as determined by A-scan with mannual keratomery showed significant statistical differences from those of IOL Master®. However, there was no difference in postoperative mean absolute error between biometric measurements, or among formulas according to axial length, anterior chamber depth, or mean corneal curvature. However, the percentage of actual refraction within ±0.50 D of the intended refraction was dirrerent among the four formalas according to axial length, anterior chamber dept, mean corneal curvature. CONCLUSIONS: Biometry measurement using the immersion-type A-scan with mannual keratomery is as accurate as that using IOL Master® for predicting the postoperative refractive state of cataract surgery. However, it is suggested that the best IOL formula be chosen according to axial length, anterior chamber depth, and mean corneal curvature.
Anterior Chamber ; Biometry ; Cataract ; Humans ; Immersion ; Interferometry* ; Lenses, Intraocular* ; Retrospective Studies ; Ultrasonography*

OBJECTIVE: Polypharmacy is one of the main causes of inappropriate medication use, adverse drug-related events and cost. It aimed to investigate the status of polypharmacy and potentially inappropriate medication (PIM), the factors affecting polypharmacy and cost in elderly outpatients. METHOD: A pharmacy claim data were retrospectively analyzed with elderly patients prescriptions at a pharmacy located near a top tier general hospital. The numbers of medications per person, prevalence of polypharmacy and PIM according to the 2012 Beers criteria and Korea PIM list, medication cost and the factors affecting polypharmacy were investigated. RESULTS: Forty-six percentages of the elderly outpatients received polypharmacy and over 21% of them had medications listed in Beers or Korean PIM. In multiregressional analysis, we found that age, gender and insurance types were affective factors of polypharmacy. (p < 0.001, 0.047, 0.009, respectively). The cost of polypharmacy with PIM in elderly outpatients was increased with age. Various approaches of interventions would be further required.
Aged* ; Beer ; Hospitals, General* ; Humans ; Insurance ; Korea ; Outpatients ; Pharmacies* ; Pharmacy ; Polypharmacy* ; Prescriptions ; Prevalence ; Retrospective Studies ; Risk Factors*