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: Fabry disease is an X-linked recessive disorder caused by deficiency of the lysosomal enzyme α-galactosidase A (α-Gal A). Previous studies identified many cases of Fabry disease among men with left ventricular hypertrophy (LVH). The purpose of this study was to define the frequency of Fabry disease among Korean men with LVH. METHODS: In this national prospective multicenter study, we screened Fabry disease in men with LVH on echocardiography. The criterion for LVH diagnosis was a maximum LV wall thickness 13 mm or greater. We screened 988 men with LVH for plasma α-Gal A activity. In patients with low α-Gal A activity (< 3 nmol/hr/mL), we searched for mutations in the α-galactosidase gene. RESULTS: In seven men, α-Gal A activity was low. Three had previously identified mutations; Gly328Arg, Arg301Gln, and His46Arg. Two unrelated men had the E66Q variant associated with functional polymorphism. In two patients, we did not detect GLA mutations, although α-Gal A activity was low on repeated assessment. CONCLUSION: We identified three patients (0.3%) with Fabry disease among unselected Korean men with LVH. Although the prevalence of Fabry disease was low in our study, early treatment of Fabry disease can result in a good prognosis. Therefore, in men with unexplained LVH, differential diagnosis of Fabry disease should be considered.
Diagnosis ; Diagnosis, Differential ; Echocardiography ; Fabry Disease ; Humans ; Hypertrophy, Left Ventricular ; Male ; Plasma ; Prevalence ; Prognosis ; Prospective Studies

BACKGROUND: The early and accurate diagnosis of leptomeningeal metastasis (LM) has become important because of introduction of new therapeutic strategies for LM and increasing incidence of LM along with longer survival of cancer patients. We aimed to evaluate the role of cerebrospinal fluid (CSF) CYFRA 21-1 as a diagnostic indicator for LM in patients with cancer. METHODS: CSF CYFRA 21-1 level was analyzed using electro-chemiluminescent immunoassay. The difference in concentration of CSF CYFRA 21-1 between 91 patients with LM and 339 control groups (patients with other neurological disease or healthy controls) was investigated. The cut-off value of CSF CYFRA 21-1 as a diagnostic indicator for LM and its diagnostic performance were evaluated. RESULTS: The CSF CYFRA 21-1 was significantly higher in LM patients than control groups (p<0.001). A cut-off value of diagnosis for LM in patients with cancer was 1.59 ng/mL. The sensitivity, specificity, accuracy, and positive and negative predictive values of CSF CYFRA 21-1 were 80.2%, 96.2%, 92.8%, 84.9%, 94.8% for diagnosis of LM. CONCLUSIONS: These results suggested that CSF CYFRA 21-1 can be an additional diagnostic indicator for cancer patients with LM.
Cerebrospinal Fluid ; Diagnosis ; Humans ; Immunoassay ; Incidence ; Neoplasm Metastasis ; Sensitivity and Specificity

OBJECTIVE: Little is known about the psychiatric complications or risk factors for depression in suspected or confirmed Middle East Respiratory Syndrome (MERS) patients quarantined in hospital. METHODS: A retrospective chart review was performed of all the patients admitted to the acute MERS inpatient unit at the NMC during the 2015 outbreak. RESULTS: 30 (75%) were confirmed to be MERS-CoV positive among 40 admitted cases. Among the 24 MERS survivors, 17 (70.8%) exhibited psychiatric symptoms and 10 (41.7%) received a psychiatric diagnosis and medication during their hospital stay. Suspected MERS patients did not exhibit psychiatric symptoms or receive a psychiatric diagnosis. 27 suspected or confirmed MERS patients (age 41.15±18.64, male 37.0%) completed psychological assessments. A multiple linear regression analysis revealed that the Korean National Health and Nutrition Examination Survey-Short form and the Impact of Event Scale-Revised scores were significantly positively correlated with Patient Health Questionnaire-9 scores. CONCLUSION: Our findings indicate that the acute treatment of MERS-CoV infections in quarantine had a significant impact on the patients’ mental health. Furthermore, assessment of the risk factors for depression may identify vulnerable patients who require psychiatric care and attention during hospital quarantine.
Communicable Diseases, Emerging ; Coronavirus Infections* ; Depression ; Humans ; Inpatients ; Length of Stay ; Linear Models ; Male ; Mental Disorders ; Mental Health ; Middle East Respiratory Syndrome Coronavirus ; Middle East* ; Quarantine ; Retrospective Studies* ; Risk Factors ; Survivors

STUDY DESIGN: Retrospective study. PURPOSE: To determine prognostic factors of neurological complications (NCs) of posterior thoracolumbar surgeries. OVERVIEW OF LITERATURE: There have been few reports on the prognosis of NCs according to the causes and treatment methods. METHODS: The subjects were 65 patients who had NCs for 19 years (1995–2013) after posterior thoracolumbar surgeries in Seoul Sacred Heart General Hospital. The degree of neurological injury was assessed using numeric scales as follows: G1, increased leg pain or sensory loss; G2, hemiparesis; G3, paraparesis; G4, cauda equine syndrome; and G5, complete paraplegia. The relative degree of neurological recovery was evaluated using four numeric scales as follows: Gr1, complete recovery; Gr2, almost complete recovery with residual sensory loss or numbness; Gr3, partial recovery with apparent neurological deficit; and Gr4, no recovery. The prognostic factors were investigated in terms of demographic and surgical variables that were available in a retrospective review. RESULTS: The causes were as follows: epidural hematoma (EH), 25 patients (38.5%); insufficient decompression and fusion, 14 patients (21.5%); mechanical injury, 11 patients (16.9%); insufficient discectomy, four patients (6.2%); and unknown, 11 patients (23.1%). The grade of neurological injury was as follows: G1, 11 patients (16.9%); G2, 34 patients (52.3%); G3, 15 patients (23.1%); G4, three patients (4.6%); and G5, two patients (3.1%). Thirteen patients received conservative treatment, and 52 underwent revision surgeries. Neurological recovery was as follows: Gr1, 21 patients (32.3%); Gr2, 17 patients (26.2%); Gr3, 20 patients (30.8%); and Gr4, seven patients (10.8%). The prognosis depended on the causes (p =0.041). The subgroup analysis of the revision group revealed a significant correlation between the degree of neurological recovery and the timing of revision, irrespective of causes (r =0.413, p =0.002). CONCLUSIONS: The prognosis of NC depended on the causes. EH was the best and unknown was the worst prognostic factor. Revision should be performed as soon as possible for a better prognosis.
Decompression ; Diskectomy ; Heart ; Hematoma ; Hospitals, General ; Humans ; Hypesthesia ; Leg ; Paraparesis ; Paraplegia ; Paresis ; Prognosis ; Retrospective Studies ; Seoul ; Weights and Measures

BACKGROUND: The incidence of cardiovascular and neurovascular diseases has been increasing with the aging of the population, and antiplatelet drugs (APDs) are more frequently used than in the past. With the average age of spinal surgery patients also increasing, there has been a great concern on the adverse effects of APD on spine surgery. To our knowledge, though there have been many studies on this issue, their results are conflicting. In this study, we aimed to determine the influence of APDs on spine surgery in terms of intraoperative bleeding and postoperative spinal epidural hematoma complication. METHODS: Patients who underwent posterior thoracolumbar decompression and instrumentation at our institution were reviewed. There were 34 APD takers (APDT group). Seventy-nine non-APD takers (NAPDT group) were selected as a control group in consideration of demographic and surgical factors. There were two primary endpoints of this study: the amount of bleeding per 10 minutes and cauda equina compression by epidural hematoma measured at the cross-sectional area of the thecal sac in the maximal compression site on the axial T2 magnetic resonance imaging scans taken on day 7. RESULTS: Both groups were homogeneous regarding age and sex (demographic factors), the number of fused segments, operation time, and primary/revision operation (surgical factors), and the number of platelets, prothrombin time, and activated partial thromboplastin time (coagulation-related factors). However, the platelet function analysis-epinephrine was delayed in the APDT group than in the NAPDT group (203.6 seconds vs. 170.0 seconds, p = 0.050). Intraoperative bleeding per 10 minutes was 40.6 ± 12.8 mL in the APDT group and 43.9 ± 9.9 mL in the NAPDT group, showing no significant difference between the two groups (p = 0.154). The cross-sectional area of the thecal sac at the maximal compression site by epidural hematoma was 120.2 ± 48.2 mm2 in the APDT group and 123.2 ± 50.4 mm2 in the NAPDT group, showing no significant difference between the two groups (p = 0.766). CONCLUSIONS: APD medication did not increase intraoperative bleeding and postoperative spinal epidural hematoma. Therefore, it would be safer to perform spinal surgery without discontinuation of APD therapy in patients who are vulnerable to cardiovascular and neurovascular complications.
Aging ; Blood Platelets ; Cauda Equina ; Decompression ; Hematoma ; Hematoma, Epidural, Spinal ; Hemorrhage ; Humans ; Incidence ; Magnetic Resonance Imaging ; Partial Thromboplastin Time ; Platelet Aggregation Inhibitors ; Prothrombin Time ; Spine*

STUDY DESIGN: Case report. OBJECTIVES: We report a case of spinal subarachnoid hematoma that developed after spinal anesthesia in a female patient who had no risk factors. SUMMARY OF LITERATURE REVIEW: Few case reports of spinal subarachnoid hematoma (SSH) after spinal anesthesia have been published. The incidence of SSH is much less than that of epidural hematoma. MATERIALS AND METHODS: A 56-year-old female patient underwent arthroscopic surgery on her right knee under spinal anesthesia. Automated patient-controlled analgesia (PCA) was applied after surgery. On day 2, the patient complained of lower back pain, headache, nausea, and vomiting, but there were no neurological signs in the lower extremity. At day 5, she had a moderate fever (38.4°) and continuous nausea and vomiting. Magnetic resonance imaging (MRI) was conducted on day 5 and a large subarachnoid hematoma was found. We immediately performed surgical hematoma evacuation. Her low back and buttock pain improved immediately, and all symptoms disappeared in a week without any neurological sequelae. RESULTS: The unusual and vague symptoms in this case made the diagnosis difficult, but spinal MRI confirmed SSH. Immediate surgical hematoma evacuation improved all symptoms and left no neurologic sequelae. CONCLUSIONS: SSH after spinal anesthesia may have cerebral symptoms that mimic the side effects of PCA. Early diagnosis by MRI and surgical evacuation of the SSH are a reasonable approach for this complication.
Analgesia, Patient-Controlled ; Anesthesia, Spinal ; Arthroscopy ; Buttocks ; Diagnosis ; Early Diagnosis ; Female ; Fever ; Headache ; Hematoma ; Humans ; Incidence ; Knee ; Low Back Pain ; Lower Extremity ; Magnetic Resonance Imaging ; Middle Aged ; Nausea ; Passive Cutaneous Anaphylaxis ; Risk Factors ; Vomiting

OBJECTIVES: We report a case of spinal subarachnoid hematoma that developed after spinal anesthesia in a female patient who had no risk factors.SUMMARY OF LITERATURE REVIEW: Few case reports of spinal subarachnoid hematoma (SSH) after spinal anesthesia have been published. The incidence of SSH is much less than that of epidural hematoma. MATERIALS AND METHODS: A 56-year-old female patient underwent arthroscopic surgery on her right knee under spinal anesthesia. Automated patient-controlled analgesia (PCA) was applied after surgery. On day 2, the patient complained of lower back pain, headache, nausea, and vomiting, but there were no neurological signs in the lower extremity. At day 5, she had a moderate fever (38.4°) and continuous nausea and vomiting. Magnetic resonance imaging (MRI) was conducted on day 5 and a large subarachnoid hematoma was found. We immediately performed surgical hematoma evacuation. Her low back and buttock pain improved immediately, and all symptoms disappeared in a week without any neurological sequelae. RESULTS: The unusual and vague symptoms in this case made the diagnosis difficult, but spinal MRI confirmed SSH. Immediate surgical hematoma evacuation improved all symptoms and left no neurologic sequelae. CONCLUSIONS SSH after spinal anesthesia may have cerebral symptoms that mimic the side effects of PCA. Early diagnosis by MRI and surgical evacuation of the SSH are a reasonable approach for this complication.