Purpose: In 2024, medical researchers in the Republic of Korea were invited to amend the health and medical data utilization guidelines (Government Publications Registration Number: 11-1352000-0052828-14). This study aimed to show the overall impact of the guideline revision, with a focus on clinical genomic data. Materials and Methods: This study amended the pseudonymization of genomic data defined in the previous version through a joint study led by the Ministry of Health and Welfare, the Korea Health Information Service, and the Korea Genome Organization. To develop the previous version, we held three conferences with four main medical research institutes and seven academic societies. We conducted two surveys targeting special genome experts in academia, industry, and institutes. Results: We found that cases of pseudonymization in the application of genome data were rare and that there was ambiguity in the terminology used in the previous version of the guidelines. Most experts (>~90%) agreed that the ‘reserved’ condition should be eliminated to make genomic data available after pseudonymization. In this study, the scope of genomic data was defined as clinical next-generation sequencing data, including FASTQ, BAM/SAM, VCF, and medical records. Pseudonymization targets genomic sequences and metadata, embedding specific elements, such as germline mutations, short tandem repeats, single-nucleotide polymorphisms, and identifiable data (for example, ID or environmental values). Expression data generated from multi-omics can be used without pseudonymization. Conclusion This amendment will not only enhance the safe use of healthcare data but also promote advancements in disease prevention, diagnosis, and treatment.

PURPOSE: To describe the clinical characteristics and course of optic neuritis (ON) and its association with neuromyelitis optica spectrum disorder (NMOSD) and multiple sclerosis (MS) in Korea. METHODS: In this retrospective case series, 125 eyes of 91 Korean patients with ON were included. The medical documents of adult patients with ON were retrospectively reviewed. Patients were assigned into idiopathic ON, NMOSD, and MS groups according to the presence of an association with NMOSD or MS for subgroup analysis. Clinical characteristics, disease course, and visual and systemic prognosis were analyzed. RESULTS: During the mean follow-up of 3.7 years, 73 patients were diagnosed as idiopathic ON, 14 patients were diagnosed as NMOSD, and four patients developed definite MS. At the final visit, there were 13 (13%) eyes out of 100 eyes with idiopathic ON, nine (43%) eyes out of 21 eyes with NMOSD, and one (25%) eye out of four eyes with MS had a severe visual loss of 20 / 200 or less. The mean Expanded Disability Status Scale was 3.1 ± 1.5 in NMOSD and 1.8 ± 1.5 in the MS group at the final visit. In the NMOSD group, 50% of patients showed severe visual loss in at least one eye or were unable to ambulate without assistance at the final visit (5.3 ± 4.4 years after the initial episode of ON). CONCLUSIONS: Fourteen percent of patients showed positive results for NMO-immunoglobulin G test and 50% of patients with NMOSD showed a severe visual loss in at least one eye or were unable to ambulate without assistance. The proportion of MS was relatively low in Korean ON patients.
Adult ; Follow-Up Studies ; Humans ; Korea ; Multiple Sclerosis ; Neuromyelitis Optica ; Optic Neuritis ; Prognosis ; Retrospective Studies

BACKGROUND: It is widely known that the prognosis of acute myeloid leukemia (AML) depends on chromosomal abnormalities. The majority of AML patients relapse and experience a dismal disease course despite initial remission. METHODS: We reviewed the medical records and laboratory findings of 55 AML patients who had relapsed between 2004 and 2013 and who had been treated at the Division of Hematology of the Pusan National University Hospital. RESULTS: The event-free survival (EFS) was related to prognostic karyotype classification at the time of diagnosis and relapse (unfavorable vs. favorable or intermediate karyotypes at diagnosis, 8.2 vs. 11.9 mo, P=0.003; unfavorable vs. favorable or intermediate karyotypes at relapse, 8.2 vs. 11.9 mo, P=0.009). The overall survival (OS) was significantly correlated with karyotype classification only at diagnosis (unfavorable vs. favorable or intermediate vs. karyotypes at diagnosis, 8.5 vs. 21.8 mo, P=0.001; unfavorable vs. favorable or intermediate karyotypes at relapse, 8.5 vs. 21.2 mo, P=0.136). A change in karyotype between diagnosis and relapse, which is regarded as a factor of resistance against treatment, was not a significant prognostic factor for OS, EFS, and post-relapse survival (PRS). A Cox proportional hazards model showed that the combined use of fludarabine, cytosine arabinoside, and granulocyte colony-stimulating factor (FLAG) as a salvage regimen, was a significant prognostic factor for OS (hazard ratio=0.399, P=0.010) and the PRS (hazard ratio=0.447, P=0.031). CONCLUSION: The karyotype classification at diagnosis predicts survival including PRS in relapsed AML patients as well as in treatment-naïve patients. We suggest that presently, administration of salvage FLAG could be a better treatment option.
Busan ; Chromosome Aberrations ; Classification ; Clonal Evolution* ; Cytarabine ; Diagnosis ; Disease-Free Survival ; Granulocyte Colony-Stimulating Factor ; Hematology ; Humans ; Karyotype ; Leukemia, Myeloid, Acute ; Medical Records ; Prognosis ; Proportional Hazards Models ; Recurrence

BACKGROUND/AIMS: Previous studies have suggested a weak correlation between self-reported rectal effluent status and bowel preparation quality. We aim to evaluate whether photographic examples of rectal effluents could improve the correlation between patient descriptions of rectal effluents and bowel preparation quality. METHODS: Before colonoscopy, patients were asked to describe the nature of their last three rectal effluents. Photographic examples of rectal effluents were provided as a reference for scoring. Bowel preparation was subsequently assessed by a single endoscopist using a global preparation assessment scale. Preparation outcomes were grouped into two levels (excellent to good vs. fair to inadequate). Both univariate and multivariate logistic regression models were used to find any association between bowel preparation quality and patient characteristics. RESULTS: A total of 138 patients completed the questionnaires. The mean age was 56.5+/-10.4 years. The mean sum of the last three rectal effluent scores was 5.9+/-2.0. Higher rectal effluent scores (odds ratio [OR], 0.82; P=0.043) and the presence of diverticula (OR, 0.16; P<0.001) were risk factors for suboptimal preparation. CONCLUSIONS: Photographic example-guided patient descriptions of rectal effluents showed a statistically significant association with bowel preparation quality. However, clinical significance seemed to be low. The presence of diverticula was an independent predictive factor for suboptimal bowel preparation quality.
Colonoscopy ; Diverticulum ; Humans ; Logistic Models ; Risk Factors ; Surveys and Questionnaires

BACKGROUND/AIMS: Previous studies have suggested a weak correlation between self-reported rectal effluent status and bowel preparation quality. We aim to evaluate whether photographic examples of rectal effluents could improve the correlation between patient descriptions of rectal effluents and bowel preparation quality. METHODS: Before colonoscopy, patients were asked to describe the nature of their last three rectal effluents. Photographic examples of rectal effluents were provided as a reference for scoring. Bowel preparation was subsequently assessed by a single endoscopist using a global preparation assessment scale. Preparation outcomes were grouped into two levels (excellent to good vs. fair to inadequate). Both univariate and multivariate logistic regression models were used to find any association between bowel preparation quality and patient characteristics. RESULTS: A total of 138 patients completed the questionnaires. The mean age was 56.5+/-10.4 years. The mean sum of the last three rectal effluent scores was 5.9+/-2.0. Higher rectal effluent scores (odds ratio [OR], 0.82; P=0.043) and the presence of diverticula (OR, 0.16; P<0.001) were risk factors for suboptimal preparation. CONCLUSIONS: Photographic example-guided patient descriptions of rectal effluents showed a statistically significant association with bowel preparation quality. However, clinical significance seemed to be low. The presence of diverticula was an independent predictive factor for suboptimal bowel preparation quality.
Colonoscopy ; Diverticulum ; Humans ; Logistic Models ; Risk Factors ; Surveys and Questionnaires

Lymph node metastasis is rare in small (i.e., <10 mm) rectal neuroendocrine tumors (NETs). In addition to tumor size, pathological features such as the mitotic or Ki-67 proliferation index are associated with lymph node metastasis in rectal NETs. We recently treated a patient who underwent endoscopic treatment of a small, grade 1 rectal NET that recurred in the form of perirectal lymph node metastasis 7 years later. A 7-mm-sized perirectal lymph node was noted at the time of the initial endoscopic treatment. The same lymph node was found to be slightly enlarged on follow-up and finally confirmed as a metastatic NET. Therefore, the perirectal lymph node metastasis might have been present at the time of the initial diagnosis. However, the growth rate of the lymph node was extremely low, and it took 7 years to increase in size from 7 to 10 mm. NETs with low Ki-67 proliferation index and without mitotic activity may grow extremely slowly even if they are metastatic.
Diagnosis ; Follow-Up Studies ; Humans ; Lymph Nodes* ; Neoplasm Metastasis ; Neuroendocrine Tumors* ; Rectum

Major peripheral arterial graft infection is a potentially devastating complication of vascular surgery, associated with significant mortality and high amputation rates. Autologous saphenous veins are considered optimal arterial conduits for lower extremity revascularization in infected fields, but they are often unavailable or unsuitable in these patients. This study describes two patients with major peripheral graft infection, but without available autologous veins, who underwent graft excision and cryopreserved cadaveric arterial allograft reconstruction. Although long-term graft durability is unclear because of gradual deterioration and degeneration, these findings suggest that cadaveric allografts may be good options for patients with major peripheral graft infection.
Allografts* ; Amputation ; Blood Vessel Prosthesis ; Cadaver* ; Humans ; Lower Extremity ; Mortality ; Saphenous Vein ; Tissue Preservation ; Transplants* ; Veins

Hepatitis A virus (HAV) infections occur predominantly in children, and are usually self-limiting. However, 75-95% of the infections in adults are symptomatic (mostly with jaundice), with the illness symptoms usually persisting for a few weeks. Atypical manifestations include relapsing hepatitis, prolonged cholestasis, and complications involving renal injury. Drug rash with eosinophilia and systemic symptoms (DRESS) syndrome is a severe, drug-induced hypersensitivity reaction characterized by skin rash, fever, lymph-node enlargement, and internal organ involvement. We describe a 22-year-old male who presented with acute kidney injury and was diagnosed with prolonged cholestatic hepatitis A. The patient also developed DRESS syndrome due to antibiotic and/or antiviral treatment. To our knowledge, this is the first report of histopathologically confirmed DRESS syndrome due to antibiotic and/or antiviral treatment following HAV infection with cholestatic features and renal injury.
Acute Kidney Injury/diagnosis ; Anti-Bacterial Agents/*adverse effects/therapeutic use ; Cefotaxime/adverse effects/therapeutic use ; Cholestasis/complications/*diagnosis ; Cytomegalovirus/genetics ; Cytomegalovirus Infections/drug therapy/virology ; DNA, Viral/analysis ; Eosinophilia/etiology ; Exanthema/*chemically induced/pathology ; Ganciclovir/therapeutic use ; Hepatitis A/complications/*diagnosis/drug therapy ; Humans ; Hydrocortisone/therapeutic use ; Immunoglobulins/therapeutic use ; Male ; Syndrome ; Young Adult

A 59-year-old man visited our hospital for facial edema and muscle weakness in both lower extremities. He was diagnosed with dermatomyositis (DM) about 1 year previously, and sudden development of proteinuria was noted. Renal biopsy revealed focal global and segmental glomerulosclerosis with slight mesangial expansion. Glomerulonephritis is rare in DM. According to our review of related literature, membranous nephropathy is the main type of DM, while mesangial proliferative glomerulonephritis is the most common type in polymyositis. The mechanism underlying the association between DM and glomerulonephritis remains to be elucidated. We herein report a case of DM associated with focal segmental glomerulosclerosis, which has not been reported previously.
Biopsy ; Dermatomyositis ; Edema ; Glomerulonephritis ; Glomerulonephritis, Membranous ; Glomerulosclerosis, Focal Segmental ; Humans ; Lower Extremity ; Middle Aged ; Muscle Weakness ; Polymyositis ; Proteinuria

As a part of our ongoing search for a safe and efficient anti-tumor vaccine, we attempted to determine whether the molecular nature of certain tumor antigens would influence immune responses against tumor cells. As compared with freeze-thawed or formaldehyde-fixed tumor antigens, heat-denatured tumor antigens elicited profound anti-tumor immune responses and greatly inhibited the growth of live tumor cells. The heat-denatured tumor antigens induced a substantial increase in the anti-tumor CTL response in the absence of any adjuvant material. This response appears to be initiated by strong activation of the antigen-presenting cells, which may recognize heat-denatured protein antigens. Upon recognition of the heat-denatured tumor antigens, macrophages and dendritic cells were found to acutely upregulate the expression of co-stimulatory molecules such as B7.2, as well as the secretion of inflammatory cytokines such as IL-12 and TNF-alpha. The results of this study indicate that heat-denatured tumor extracts might elicit protective anti-tumor adaptive immune responses and also raise the possibility that a safe and efficient adjuvant-free tumor vaccine might be developed in conjunction with a dendritic cell-based tumor vaccine.
Adjuvants, Immunologic ; Animals ; Antibodies, Neoplasm/immunology ; Antibody Specificity/immunology ; Antigens, Neoplasm/immunology ; Cancer Vaccines/*immunology ; Cell Line, Tumor ; Cell Proliferation ; Cytokines/biosynthesis ; Cytotoxicity, Immunologic/immunology ; Dendritic Cells/immunology ; *Hot Temperature ; Immunity, Cellular/immunology ; Immunization ; Immunologic Memory/immunology ; Macrophages, Peritoneal/immunology ; Mice ; Mice, Inbred BALB C ; Mice, Inbred C57BL ; Neoplasms/*immunology/*pathology ; Survival Analysis ; T-Lymphocytes, Cytotoxic/immunology