A 3-month-old male infant was transferred to our hospital due to bicytopenia. His bone marrow biopsy showed irregular bony trabeculae with cartilaginous core, which was consistent with osteopetrosis. In the genetic test, c.242del (p.Pro81Argfs*85) in TCIRG1 was found to be homozygotic, thus he was diagnosed with malignant infantile osteopetrosis. At 6 months of age, he received double-unit umbilical cord blood transplantation (UCBT) with the conditioning regimen including busulfan, cyclophosphamide, and rabbit anti-thymocyte globulin. Initially, single UCB was infused to the patient, but the post infusion viability of the UCB was unexpectedly low. Thus, another UCB was additionally infused. Cyclosporine and mycophenolate mofetil were used for graft-versus-host disease (GVHD) prophylaxis. Neutrophils and platelets were engrafted on day +13 and +33, respectively. With engraftment, he showed overall grade 4 acute GVHD involving the skin and gut, which was refractory to corticosteroids. Despite treating with low-dose weekly methotrexate (10 mg/m2) and oral beclomethasone, his symptoms persisted. After treating with ruxolitinib 2.5 mg/day for 2 weeks, and 5 mg/day thereafter, his diarrhea stopped in 2 weeks and his skin symptoms gradually improved over 3 months. The short tandem repeats showed 100% donor chimerism at 1 and 3 months after UCBT. Currently, 4 months after UCBT, he is 10 months old. The oral prednisolone has been tapered to 0.6 mg/kg/day, and the dose of ruxolitinib was decreased to 2.5 mg/day without recurrence of GVHD. We plan to taper off the immunosuppressive agents if his GVHD symptoms do not recur.

OBJECTIVE: To evaluate the feasibility of laparoscopic salpingectomy using one-port in tubal pregnancy compared to conventional laparoscopic surgery. METHODS: From June 2008 to June 2011, 63 women were treated with laparoscopic salpingectomy due to tubal pregnancy, which was diagnosed by ultrasonography. These patients were divided into two groups. Of these 63 patients, 32 women were treated with conventional laparoscopic salpingectomy (CLS) in group I, 31 women underwent laparoscopic salpingectomy using one port (OPLS) in group II. In group I, rigid 0degrees or 30degrees, 10 mm laparoscope, rigid instruments were used. In group II, 30degrees, 10 mm laparoscope, rigid or flexible angulated tip instruments were used during the surgery. We reviewed and compared clinical characteristics, clinical outcomes of these patients. RESULTS: Patients in Group I were compatible with the patients in group II in clinical characteristics. Clinical outcomes were not different between two groups in terms of Hemoglobin change (g/dL), hospital stay (days), hemoperitoneum (mL), transfusion. Mean operative time was significantly longer in group II (59.7+/-15.7 min vs. 46.5+/-15.0 min, p=0.001). The mean length of skin incision was obviously shorter in group II; the difference was highly statistically significant (15.5+/-3.0 mm vs 23.5+/-3.0 mm, p<0.001). CONCLUSION: It seems that OPLS is feasible alternative to CLS to treat hemodynamically stable patients without complications. Additionally, this technique also results in better cosmetic outcomes than CLS. Randomized prospective clinical studies with larger scale are necessary in the future to confirm these results.
Cosmetics ; Female ; Hemoglobins ; Hemoperitoneum ; Humans ; Laparoscopes ; Laparoscopy ; Length of Stay ; Operative Time ; Pregnancy ; Pregnancy, Tubal ; Salpingectomy ; Skin

BACKGROUND AND OBJECTIVES: The phenylthiocarbamide (PTC) and 6-n-propylthiouracil (PROP) taste sensitivity varies among individuals. Recently, it is reported that PROP taste responsiveness is associated with carbonic anhydrase 6 (CA6) gene polymorphism. The CA6 gene, a zinc metalloprotein in human saliva, is affected in taste function and might be correlated with gustatory diversity. The aim of this study was to examine whether PTC taste sensitivity and taste disorder is associated with the CA6 gene polymorphism rs2274327 (C/T), rs2274328 (A/C), and rs2274333 (A/G). SUBJECTS AND METHOD: A total of 217 healthy normal subjects were recruited as controls, and 50 taste disorder patients were recruited as experimental group. The polymorphisms of CA6 gene were genotyped by polymerase chain reaction-restriction fragment length polymorphism analysis. All statistical analyses were calculated using the statistical package for the social science software. Haplotypes were estimated by Haploveiw and the PHASE programs. RESULTS: The CA6 gene polymorphisms showed association with taste disorder but not with PTC sensitivity (taster/nontaster). The number of control subjects carrying AA genotype of single nucleotide polymorphism rs2274328 (A/C) in the CA6 gene was higher than the number of the subjects with taste disorder (p=0.048). However, there was no association between controls and taste disorder subjects in the haplotype analysis. CONCLUSION: These data suggest that the CA6 gene polymorphism rs2274328 could affect taste function impairment in patients with taste disorder. This observation requires a further functional study of gustin protein to clarify the association of the CA6 gene polymorphisms with the taste disorder and sensitivity.
Carbon ; Carbonic Anhydrases ; Factor IX ; Genes, vif ; Genotype ; Haplotypes ; Humans ; Lifting ; Phenylthiourea ; Polymorphism, Single Nucleotide ; Saliva ; Social Sciences ; Taste Disorders ; Zinc

Purpose: To investigate the incidence of tuberculosis (TB) in healthcare workers (HCWs) with positive interferon-gamma release assay (IGRA) results based on chest X-ray (CXR) and CT findings and determine the role of imaging in the diagnosis of TB. Materials and Methods: Among 1976 hospital personnel screened for TB using IGRA, IGRApositive subjects were retrospectively investigated. Clustered nodular and/or linear streaky opacities in the upper lung zone were considered positive on CXR. The CT findings were classified as active, indeterminate, inactive, or normal. The active or indeterminate class was considered CT-positive. Results: IGRA was positive in 255 subjects (12.9%). CXR and CT were performed in 249 (99.2%) and 113 subjects (45.0%), respectively. CXR- and CT-positive findings were found in 7 of 249(2.8%) and 9 of 113 (8.0%) patients, respectively. Among the nine CT-positive subjects, active and indeterminate TB findings were found in 6 (5.3%) and 3 (2.7%) patients, respectively. Microbiological tests, including acid-fast bacilli staining, culture, and polymerase chain reaction for TB, were negative in all nine CT-positive subjects. Empirical anti-TB medications were administered to 9 CT-positive subjects, and 3 of these nine subjects were CXR-negative for pulmonary TB. Conclusion CT helped diagnose asymptomatic TB in IGRA-positive HCWs.

Ischemic stroke is one of the manifestations of reversible cerebral vasoconstriction syndrome (RCVS). Many precipitants and associated disorders of RCVS have been suggested. However, few case reports have indicated an association between anemia and RCVS. Here, we report a case of a 66-year-old female with severe iron deficiency anemia (IDA), who presented with ischemic stroke and cerebral vasoconstriction, which gradually improved with conservative treatment. High-resolution vessel wall magnetic resonance imaging findings and reversibility suggested the possibility of RCVS. In patients with RCVS and ischemic stroke, IDA should be considered. Prompt management should be delivered to prevent disease progression and recurrence.

Objective: This study aimed to investigate the feasibility of using artificial intelligence (AI) to identify normal chest radiography (CXR) from the worklist of radiologists in a health-screening environment. Materials and Methods: This retrospective simulation study was conducted using the CXRs of 5887 adults (mean age ± standard deviation, 55.4 ± 11.8 years; male, 4329) from three health screening centers in South Korea using a commercial AI (Lunit INSIGHT CXR3, version 3.5.8.8). Three board-certified thoracic radiologists reviewed CXR images for referable thoracic abnormalities and grouped the images into those with visible referable abnormalities (identified as abnormal by at least one reader) and those with clearly visible referable abnormalities (identified as abnormal by at least two readers). With AI-based simulated exclusion of normal CXR images, the percentages of normal images sorted and abnormal images erroneously removed were analyzed. Additionally, in a random subsample of 480 patients, the ability to identify visible referable abnormalities was compared among AI-unassisted reading (i.e., all images read by human readers without AI), AI-assisted reading (i.e., all images read by human readers with AI assistance as concurrent readers), and reading with AI triage (i.e., human reading of only those rendered abnormal by AI). Results: Of 5887 CXR images, 405 (6.9%) and 227 (3.9%) contained visible and clearly visible abnormalities, respectively. With AI-based triage, 42.9% (2354/5482) of normal CXR images were removed at the cost of erroneous removal of 3.5% (14/405) and 1.8% (4/227) of CXR images with visible and clearly visible abnormalities, respectively. In the diagnostic performance study, AI triage removed 41.6% (188/452) of normal images from the worklist without missing visible abnormalities and increased the specificity for some readers without decreasing sensitivity. Conclusion This study suggests the feasibility of sorting and removing normal CXRs using AI with a tailored cut-off to increase efficiency and reduce the workload of radiologists.

BACKGROUND/AIMS: Fragmented care in nephrology can cause treatment delays. Nephrologists are qualified to perform vascular access-related procedures because they understand the pathophysiology of renal disease and perform physical examination for vascular access. We compared treatment delays associated with tunneled hemodialysis catheter (TDC) placement between interventional radiologists and nephrologists. METHODS: We collected data by radiologists from January 1, 2011 through December 31, 2011 and by nephrologists from since July 1, 2012 through June 30, 2013. We compared the duration from the hemodialysis decision to TDC placement (D-P duration) and hemodialysis initiation (D-H duration), catheter success and the complication rate, and the frequency and the usage time of non-tunneled hemodialysis catheters (NDCs) before TDC placement. RESULTS: The study analyzed 483 placed TDCs: 280 TDCs placed by radiologists and 203 by nephrologists. The D-P durations were 319 minutes (interquartile range [IQR], 180 to 1,057) in the radiologist group and 140 minutes (IQR, 0 to 792) in the nephrologist group. Additionally, the D-H durations were 415 minutes (IQR,260 to 1,091) and 275 minutes (IQR, 123 to 598), respectively. These differences were statistically significant (p = 0.00). The TDC success rate (95.3% vs. 94.5%, respectively; p = 0.32) and complication rate (16.2% vs. 11%, respectively; p = 0.11) did not differ between the groups. The frequency (24.5 vs. 26%, respectively; p = 0.72) and the usage time of NDC (8,451 vs. 8,416 minutes, respectively; p = 0.91) before TDC placement were not statistically significant. CONCLUSIONS: Trained interventional nephrologists could perform TDC placement safely, minimizing treatment delays.
Catheters* ; Nephrology ; Physical Examination ; Renal Dialysis* ; Vascular Access Devices

Background: Protease-activated protein-2 (PAR2) has been reported to regulate hepatic insulin resistance condition in type 2 diabetes mice. However, the mechanism of lipid metabolism through PAR2 in obesity mice have not yet been examined. In liver, Forkhead box O1 (FoxO1) activity induces peroxisome proliferator-activated receptor γ (PPARγ), leading to accumulation of lipids and hyperlipidemia. Hyperlipidemia significantly influence hepatic steatoses, but the mechanisms underlying PAR2 signaling are complex and have not yet been elucidated. Methods: To examine the modulatory action of FoxO1 and its altered interaction with PPARγ, we utilized db/db mice and PAR2-knockout (KO) mice administered with high-fat diet (HFD). Results: Here, we demonstrated that PAR2 was overexpressed and regulated downstream gene expressions in db/db but not in db+ mice. The interaction between PAR2/β-arrestin and Akt was also greater in db/db mice. The Akt inhibition increased FoxO1 activity and subsequently PPARγ gene in the livers that led to hepatic lipid accumulation. Our data showed that FoxO1 was negatively controlled by Akt signaling and consequently, the activity of a major lipogenesis-associated transcription factors such as PPARγ increased, leading to hepatic lipid accumulation through the PAR2 pathway under hyperglycemic conditions in mice. Furthermore, the association between PPARγ and FoxO1 was increased in hepatic steatosis condition in db/db mice. However, HFD-fed PAR2-KO mice showed suppressed FoxO1-induced hepatic lipid accumulation compared with HFD-fed control groups. Conclusion Collectively, our results provide evidence that the interaction of FoxO1 with PPARγ promotes hepatic steatosis in mice. This might be due to defects in PAR2/β-arrestin-mediated Akt signaling in diabetic and HFD-fed mice.

OBJECTIVE: This study proposes a novel reference standard for hypervascular hepatocellular carcinomas (HCCs), established by cone-beam computed tomography-hepatic arteriography (CBCT-HA) and two-year imaging follow-up, and discusses its clinical implication on tumor staging and understanding the intrahepatic distant recurrence (IDR) in relation to dynamic computed tomography (CT).MATERIALS AND METHODS: In this retrospective study, 99 patients were enrolled, who underwent CBCT-HA during initial chemoembolization for HCC suspected on CT. All patients underwent chemoembolization and regular clinical and imaging follow-up for two years. If IDR appeared on follow-up imaging, initial CBCT-HA images were reviewed to determine if a hypervascular focus pre-existed at the site of recurrence. Pre-existing hypervascular foci on CBCT-HA were regarded as HCCs in initial presentation. Initial HCCs were classified into three groups according to their mode of detection (Group I, detected on CT and CBCT-HA; Group II, additionally detected on CBCT-HA; Group III, confirmed by interval growth). We assessed the influence of CBCT-HA and two-year follow-up on initial tumor stage and calculated the proportion of IDR that pre-existed in initial CBCT-HA.RESULTS: A total of 405 nodules were confirmed as HCCs, and 297 nodules initially pre-existed. Of the initial 297 HCCs, 149 (50.2%) lesions were in Group I, 74 (24.9%) lesions were in Group II, and the remaining 74 (24.9%) lesions were in Group III. After applying CBCT-HA findings, 11 patients upstaged in T stage, and 4 patients had a change in Milan criteria. Our reference standard for HCC indicated that 120 of 148 (81.1%) one-year IDR and 148 of 256 (57.8%) two-year IDR existed on initial CBCT-HA.CONCLUSION: The proposed method enabled the confirmation of many sub-centimeter-sized, faintly vascularized HCC nodules that pre-existed initially but clinically manifested as IDR. Our reference standard for HCC helped in understanding the nature of IDR and the early development of HCC as well as the clinical impact of tumor staging and treatment decision.
Angiography ; Carcinoma, Hepatocellular ; Follow-Up Studies ; Humans ; Methods ; Neoplasm Staging ; Recurrence ; Retrospective Studies

BACKGROUND: Pilocytic astrocytoma (PA) is a brain tumor that is relatively more common in children and young adults. METHODS: We retrospectively reviewed the medical records of patients with PA treated at a single center between 1988 and 2018. RESULTS: We included 31 subjects with PA. The median age at diagnosis was 13.4 years, and the median follow-up duration was 9.9 years. The total PA group had a 10-year disease-specific survival (DSS) rate of 92.6% [95% confidence interval (CI), 82.6–100] and 10-year progression-free survival (PFS) rate of 52.8% (95% CI, 32.0–73.6). In patients aged <20 years, tumors were more likely to be located in sites in which gross total tumor resection (GTR) was impossible. No statistically significant difference in 10-year DSS was found between the GTR (100%) and non-GTR (89.7%; 95% CI, 76.2–100; p=0.374) groups. However, a statistically significant difference in 10-year PFS was found between the GTR (100%) and non-GTR groups (30.7%; 95% CI, 8.6–52.8; p=0.012). In the non-GTR group, no statistically significant difference in 10-year DSS was found between the patients who received immediate additional chemotherapy and/or radiotherapy (Add-Tx group, 92.9%; 95% CI, 79.4–100) and the non-Add-Tx group (83.3%; 95% CI, 53.5–100; p=0.577). No statistically significant difference in 10-year PFS was found between the Add-Tx group (28.9%; 95% CI, 1.7–56.1) and non-Add-Tx group (33.3%; 95% CI, 0–70.9; p=0.706). CONCLUSION: The PFS of the patients with PA in our study depended only on the degree of surgical excision associated with tumor location. This study is limited by its small number of patients and retrospective nature. A multicenter and prospective study is necessary to confirm these findings.
Adolescent ; Astrocytoma ; Brain Neoplasms ; Child ; Diagnosis ; Disease-Free Survival ; Drug Therapy ; Follow-Up Studies ; Glioma ; Humans ; Medical Records ; Prognosis ; Prospective Studies ; Radiotherapy ; Retrospective Studies ; Survivors ; Young Adult