Stimulator of interferon gene (STING)-associated vasculopathy with onset in infancy (SAVI) is an extremely rare autoinflammatory disease. We present the case of a female Korean patient with early-onset interstitial lung disease who was initially suspected to have systemic lupus erythematosus (SLE) but was ultimately diagnosed with SAVI. The patient exhibited signs of interstitial lung disease and cutaneous manifestations before the age of 1 year and continued to have recurrent fever accompanied by pulmonary infiltrates. Based on positive findings for antibodies associated with SLE, such as antinuclear antibodies and anti-double-stranded DNA, the pulmonary involvement was considered a manifestation of SLE. Another significant symptom was recurrent skin ulceration, which led to partial spontaneous amputation of most of the toes due to inflammation. Given the early onset of interstitial lung disease, severe skin ulcers, and symptoms resembling SLE, autoinflammatory syndrome, especially SAVI was suspected.Following confirmation by genetic testing at age 29 years, the patient was started on tofacitinib, a Janus kinase inhibitor. Despite the prolonged use of multiple immunosuppressive therapies, the patient’s lung condition continued to worsen, ultimately requiring lung transplantation. This observational report highlights the importance of considering SAVI as a potential diagnosis when manifestations of interstitial lung disease are observed during infancy. Early proactive treatment is crucial for lung involvement, as this can have long-term effects on patient’s prognosis.

Background/Aims: The prognostic significance of 18F-fluorodeoxyglucose (FDG)-positron emission tomography-computed tomography (PET/CT) in peripheral T-cell lymphomas (PTCLs) are controversial. We explored the prognostic impact of sequential 18F-FDG PET/CT during frontline chemotherapy of patients with PTCLs. Methods: In total, 143 patients with newly diagnosed PTCLs were included. Sequential 18F-FDG PET/CTs were performed at the time of diagnosis, during chemotherapy, and at the end of chemotherapy. The baseline total metabolic tumor volume (TMTV) was calculated using the the standard uptake value with a threshold method of 2.5. Results: A baseline TMTV of 457.0 cm3 was used to categorize patients into high and low TMTV groups. Patients with a requirehigh TMTV had shorter progression-free survival (PFS) and overall survival (OS) than those with a low TMTV (PFS, 9.8 vs. 26.5 mo, p = 0.043; OS, 18.9 vs. 71.2 mo, p = 0.004). The interim 18F-FDG PET/CT response score was recorded as 1, 2–3, and 4–5 according to the Deauville criteria. The PFS and OS showed significant differences according to the interim 18F-FDG PET/CT response score (PFS, 120.7 vs. 34.1 vs. 5.1 mo, p < 0.001; OS, not reached vs. 61.1 mo vs. 12.1 mo, p < 0.001). Conclusions The interim PET/CT response based on visual assessment predicts disease progression and survival outcome in PTCLs. A high baseline TMTV is associated with a poor response to anthracycline-based chemotherapy in PTCLs. However, TMTV was not an independent predictor for PFS in the multivariate analysis.

Background: Oxidative stress is generally accepted as one of the principal pathogenesis of vitiligo, and keratinocyte-melanocyte interactions are also thought to play critical roles. It is well-known that antioxidant response and autophagy protect cells against oxidative damage, but the details and the compensatory relationship between the two mechanisms in the keratinocytes of vitiligo lesions remain unclear. Objective: To evaluate the antioxidant response and autophagy status of patients with vitiligo and to explore the interactions between these two mechanisms. Methods: Ten patients with clinicopathologically proven vitiligo and 10 normal controls were enrolled in our Department of Dermatology, Soonchunhyang University Hospital, Bucheon, Korea. Tissue samples of vitiligo lesions in the patient group and normal skin in the control group were immunohistochemically stained for nuclear factor erythroid 2-related factor 2 (Nrf2), Beclin-1, microtubule-associated protein light chain 3 (LC3)-II, and p62. The immunopositivity of epidermal keratinocytes was evaluated. Results: Keratinocytes in vitiligo lesions had a significantly lower expression of Nrf2 (p=0.002) than that in the cells of normal controls. The levels of autophagy markers did not differ significantly between the two groups, but decreases in the Beclin-1 and LC3-II levels, and an increase in the p62 level in the patient group may indicate a small decrease in autophagy of patients with vitiligo. Conclusion Decreased antioxidant response and reduced autophagy may trigger melanocyte apoptosis in vitiligo lesions.

Purpose: To compare the prognosis of patients with axillary adenocarcinoma from an unknown primary (ACUPax) origin with negative MRI results and those with MRI-detected primary breast cancers. Materials and Methods: The breast MRI images of 32 patients with ACUPax without signs of primary breast cancer on mammography and ultrasound (US) were analyzed. Spot compression-magnification mammography and second-look US were performed for the area of MRI abnormality in patients with positive results; any positive findings corresponding to the MRI abnormality were confirmed by biopsy. If suspicious MRI lesions could not be localized on mammography or US, MR-guided biopsy or excision biopsy after MR-guided localization was performed. We compared the prognosis of patients with negative breast MRI with that for patients with MRI-detected primary breast cancers. Results: Primary breast cancers were confirmed in 8 (25%) patients after breast MRI. Primary breast cancers were not detected on MRI in 24 (75%) patients, including five cases of false-positive MRI results. Twenty-three patients underwent axillary lymph node dissection (ALND) followed by whole breast radiation therapy (WBRT) and chemotherapy (n=17) or subsequent chemotherapy only (n=2). Recurrence or distant metastasis did not occur during follow up in 7/8 patients with MRI-detected primary breast cancers and 22/24 patients with negative MRI results. Regional recurrence or distant metastasis did not occur in any MR-negative patient who received adjuvant chemotherapy after ALND and WBRT. Conclusion The prognoses of MR-negative patients with ACUPax who received ALND and WBRT followed by chemotherapy were as good as those of patients with MRI-detected primary breast cancers.

Background: In pityriasis versicolor, systemic antifungal agents may be indicated for widespread or refractory lesions rather than topical treatment. Oral ketoconazole is an effective treatment for pityriasis versicolor. To our knowledge, this is the first meta-analysis to compare antifungal agents one-to-one. Objective: To compare the effectiveness of oral azole antifungal agents (fluconazole, itraconazole, and ketoconazole) one-to-one in pityriasis versicolor. Methods: A computerized search was performed in different databases, including PubMed, Cochrane, EMBASE, OVID Medline, KoreaMed, KISS, and MedRIC. Seven randomized controlled trials were included. Further, statistical analyses of the extracted outcome data from the studies were performed using Rex Software (ver. 3.0.1). Results: A total of 1,828 records were identified. The results of the meta-analysis including seven studies revealed no significant differences in the mycological cure rates between fluconazole and ketoconazole (risk ratio [RR]: 1.01, 95% confidence interval [CI]: 0.93∼1.09, p=0.8246), fluconazole and itraconazole (RR: 1.14, 95% CI: 0.81∼1.60, p=0.4512), and ketoconazole and itraconazole (RR: 1.07, 95% CI: 0.96∼1.20, p=0.2265). Conclusion There was no superiority in the therapeutic effect of any drug among the oral azole antifungals used in pityriasis versicolor.

Background: We developed an assay to measure DNA-incorporated 6-thioguanine (DNATG) and validated its clinical applicability in Korean pediatric patients with acute lymphoblastic leukemia (ALL) in order to improve individualized thiopurine treatment and reduce the life-threatening cytotoxicity. Methods: The DNA-TG assay was developed based on liquid chromatography-tandem mass spectrometry, with isotope-labeled TG-d3 and guanine-d3 as internal standards.This method was applied to 257 samples of pediatric ALL patients. The DNA-TG level was compared with erythrocyte TG nucleotide (RBC-TGN) level in relation to the TPMT and NUDT15 genotypes, which affect thiopurine metabolism, using Spearman’s rank test and repeated measure ANOVA. Results: For DNA-TG quantification, a linearity range of 10.0-5,000.0 fmol TG/µg DNA;bias for accuracy of –10.4% –3.5%; coefficient of variation for intra- and inter-day precision of 3.4% and 5.8% at 80 fmol TG/µg DNA and of 4.9% and 5.3% at 800 fmol TG/µg DNA, respectively; and recovery of 85.7%–116.2% were achieved without matrix effects or carry-over. The median DNA-TG level in the 257 samples was 106.0 fmol TG/µg DNA (interquartile range, 75.8–150.9). There was a strong correlation between DNA-TG and RBC-TGN levels (ρ = 0.68,ρ < 0.0001). The DNA-TG/RBC-TGN ratio was significantly higher in NUDT15 intermediate metabolizers (*1/*2 and *1/*3) than in patients with wildtype alleles (ρ < 0.0001). Conclusions This simple and sensitive method for measuring DNA-TG level can improve therapeutic drug monitoring for thiopurine treatment.

Background: In pityriasis versicolor, systemic antifungal agents may be indicated for widespread or refractory lesions rather than topical treatment. Oral ketoconazole is an effective treatment for pityriasis versicolor. To our knowledge, this is the first meta-analysis to compare antifungal agents one-to-one. Objective: To compare the effectiveness of oral azole antifungal agents (fluconazole, itraconazole, and ketoconazole) one-to-one in pityriasis versicolor. Methods: A computerized search was performed in different databases, including PubMed, Cochrane, EMBASE, OVID Medline, KoreaMed, KISS, and MedRIC. Seven randomized controlled trials were included. Further, statistical analyses of the extracted outcome data from the studies were performed using Rex Software (ver. 3.0.1). Results: A total of 1,828 records were identified. The results of the meta-analysis including seven studies revealed no significant differences in the mycological cure rates between fluconazole and ketoconazole (risk ratio [RR]: 1.01, 95% confidence interval [CI]: 0.93∼1.09, p=0.8246), fluconazole and itraconazole (RR: 1.14, 95% CI: 0.81∼1.60, p=0.4512), and ketoconazole and itraconazole (RR: 1.07, 95% CI: 0.96∼1.20, p=0.2265). Conclusion There was no superiority in the therapeutic effect of any drug among the oral azole antifungals used in pityriasis versicolor.

Purpose: We investigated whether response classification after total thyroidectomy and radioactive iodine (RAI) therapy could be affected by serum levels of recombinant human thyrotropin (rhTSH)-stimulated thyroglobulin (Tg) measured at different time points in a follow-up of patients with papillary thyroid carcinoma (PTC). Methods: A total of 147 PTC patients underwent serum Tg measurement for response assessment 6 to 24 months after the first RAI therapy. Serum Tg levels were measured at 24 h (D1Tg) and 48–72 h (D2-3Tg) after the 2nd injection of rhTSH. Responses were classified into three categories based on serum Tg corresponding to the excellent response (ER-Tg), indeterminate response (IR-Tg), and biochemical incomplete response (BIR-Tg). The distribution pattern of response classification based on serum Tg at different time points (D1Tg vs. D2-3Tg) was compared. Results: Serum D2-3Tg level was higher than D1Tg level (0.339 ng/mL vs. 0.239 ng/mL, P < 0.001). The distribution of response categories was not significantly different between D1Tg-based and D2-3Tg-based classification. However, 8 of 103 (7.8%) patients and 3 of 40 (7.5%) patients initially categorized as ER-Tg and IR-Tg based on D1Tg, respectively, were reclassified to IR-Tg and BIR-Tg based on D2-3Tg, respectively. The optimal cutoff values of D1Tg for the change of response categories were 0.557 ng/mL (from ER-Tg to IR-Tg) and 6.845 ng/mL (from IR-Tg to BIR-Tg). Conclusion D1Tg measurement was sufficient to assess the therapeutic response in most patients with low level of D1Tg. Nevertheless, D2-3Tg measurement was still necessary in the patients with D1Tg higher than a certain level as response classification based on D2-3Tg could change.

Background and Objectives: The standard surgical procedure for primary hyperparathyroidism is the bilateral exploration. However, the unilateral exploration and direct focused parathyroidectomy have been performed to reduce surgical morbidity. The purpose of this study was to report the surgical outcomes and efficacy of the bilateral exploration, unilateral exploration, and direct focused approaches for primary hyperparathyroidism.Subjects and Method We retrospectively analyzed the surgical outcomes of 87 patients with primary hyperparathyroidism from January 2007 to December 2017. We compared the operative time, complication and recurrence rate between the three operative methods. Results: The most common histopathology was parathyroid adenoma, which was found in 73 cases (83.9%), followed by hyperplasia. In terms of complications, there were two cases of transient vocal cord palsy, one case of hematoma, one case of hypocalcemia and one case of hungry bone syndrome. Recurrence occurred in two (2.3%) out of 87 cases. There was no significant difference in the recurrence rate between the three surgical approaches. Conclusion The success rate of surgery for primary hyperparathyroidism is high. Direct focused parathyroidectomy may be a good option for parathyroid adenoma if the localization tests localize the lesion. The bilateral exploration is effective for parathyroid hyperplasia.

Purpose: Fluorodeoxyglucose positron emission tomography–computed tomography (PET-CT) is gaining evidence as a predictive factor in non-small cell lung cancer (NSCLC). Stereotactic ablative radiotherapy (SABR) is the standard treatment in early-stage NSCLC when a patient is unsuitable for surgery. We performed a study to assess the prognostic clinical significance of PET-CT after SABR in early-stage NSCLC. Materials and Methods: Seventy-six patients with stage I NSCLC treated with SABR were investigated. Total radiation dose ranged from 36 to 63 Gy in three to eight fractions depending on tumor location and size. Respiratory motion control was implemented at simulation and during treatment. PET-CT prior to SABR was performed in 66 patients (86.8%). Results: Median follow-up time was 32 months (range, 5 to 142 months). Local control rate at 1, 2, and 5 years were 95.9%, 92.8%, and 86.7%, respectively. Overall survival (OS) at 1, 2, and 5 years were 91.0%, 71.3%, and 52.1% respectively. Cause-specific survival at 1, 2, and 5 years were 98.6%, 93.1%, and 84.3% respectively. Tumor size and pre-SABR maximal standardized uptake value (SUVmax) demonstrated statistical significance in the Kaplan-Meier survival analyses with log-rank test. In multivariate analyses pre-SABR SUVmax remained statistically significant in correlation to OS (p=0.024; hazard ratio [HR], 3.2; 95% confidence interval [CI], 1.2 to 8.8) and with marginal significance in regards to regional progression-free survival (p=0.059; HR, 32.5; 95% CI, 2.6 to 402.5). Conclusion Pre-SABR SUVmax demonstrated a predictive power in statistical analyses. Tumors with SUVmax above 6 at diagnosis were associated with inferior outcomes.