Gene set analysis (GSA) is useful in interpreting a genome-wide association study (GWAS) result in terms of biological mechanism. We compared the performance of two different GSA implementations that accept GWAS p-values of single nucleotide polymorphisms (SNPs) or gene-by-gene summaries thereof, GSA-SNP and i-GSEA4GWAS, under the same settings of inputs and parameters. GSA runs were made with two sets of p-values from a Korean type 2 diabetes mellitus GWAS study: 259,188 and 1,152,947 SNPs of the original and imputed genotype datasets, respectively. When Gene Ontology terms were used as gene sets, i-GSEA4GWAS produced 283 and 1,070 hits for the unimputed and imputed datasets, respectively. On the other hand, GSA-SNP reported 94 and 38 hits, respectively, for both datasets. Similar, but to a lesser degree, trends were observed with Kyoto Encyclopedia of Genes and Genomes (KEGG) gene sets as well. The huge number of hits by i-GSEA4GWAS for the imputed dataset was probably an artifact due to the scaling step in the algorithm. The decrease in hits by GSA-SNP for the imputed dataset may be due to the fact that it relies on Z-statistics, which is sensitive to variations in the background level of associations. Judicious evaluation of the GSA outcomes, perhaps based on multiple programs, is recommended.
Artifacts ; Diabetes Mellitus, Type 2 ; Genome ; Genome-Wide Association Study ; Genotype ; Hand ; Polymorphism, Single Nucleotide

Anaplastic large T-cell lymphoma (ALCL) encompasses different clinical entities that can be aggressive or localized. Scalp anaplastic lymphoma kinase (ALK)-negative ALCL is considered a localized lymphoma, and usually extends to the regional lymph nodes; intracranial invasion is rare. A 74-year-old woman was diagnosed with scalp ALK-negative ALCL, but did not exhibit invasion of the lymph nodes. Computed tomography and magnetic resonance imaging revealed intracranial masses with bony erosions. We treated the patient using CHOP chemotherapy and achieved short-term regression of the scalp and intracranial lesions. However, the patients ultimately died of pneumonia during the pancytopenic period. Therefore, caution must be exercised when treating scalp ALK-negative ALCL with intracranial invasion.
Aged ; Central Nervous System* ; Drug Therapy ; Female ; Humans ; Lymph Nodes ; Lymphoma ; Lymphoma, T-Cell* ; Magnetic Resonance Imaging ; Meningioma ; Neurofibromatoses ; Phosphotransferases ; Pneumonia ; Scalp ; T-Lymphocytes*

Acute respiratory distress syndrome (ARDS) is a medical emergency that threatens life. To this day, ARDS is very rarely reported by iodine contrast media, and there is no reported case of ARDS induced by gadolinium contrast media. Here, we present a case with ARDS after the use of gadobutrol (Gadovist) as a magnetic resonance imaging (MRI) contrast medium. A 26 years old female without any medical history, including allergic diseases and without current use of drugs, visited the emergency room for abdominal pain. Her abdominopelvic computed tomography with iodine contrast media showed a right ovarian cyst and possible infective colitis. Eighty-three hours later, she underwent pelvis MRI after injection of 7.5 mL (0.1 mL/kg body weight) of gadobutrol (Gadovist) to evaluate the ovarian cyst. She soon presented respiratory difficulty, edema of the lips, nausea, and vomiting, and we could hear wheezing upon auscultation. She was treated with dexamethasone, epinephrine, and norepinephrine. Her chest X-ray showed bilateral central bat-wing consolidative appearance. Managed with mechanical ventilation, she was extubated 3 days later and discharged without complications.
Adult ; Animals ; Contrast Media/administration & dosage/*adverse effects ; Female ; Gadolinium ; Humans ; Magnetic Resonance Imaging/*methods ; *Organometallic Compounds/adverse effects ; Respiratory Distress Syndrome, Adult/*chemically induced ; Tomography, X-Ray Computed

BACKGROUND/AIMS: Grape seed proanthocyanidin extract (GSPE) has been reported to have a beneficial effect on regulating inf lammation. However, the anti-inflammatory mechanism of GSPE remains unclear. The aim of this study was to verify the influence of GSPE on the Toll-like receptor 4 (TLR4)-mediated signaling pathway in the regulation of murine autoimmune arthritis. METHODS: Collagen-induced arthritis (CIA) was induced in dilute brown non-agouti (DBA)/1J mice. The mice were treated with GSPE (0 or 100 mg/kg) intraperitoneally. The severity of arthritis was assessed clinically, biochemically, and histologically. Immunostaining for TLR4 was performed. The expressions of TLR4 and downstream signaling molecules were analyzed by Western blot. The effect of GSPE on lipopolysaccharide (LPS)-induced TLR4 activation was also evaluated using RAW264.7 cells and fibroblast-like synoviocytes (FLSs) from patients with rheumatoid arthritis and from those with osteoarthritis. RESULTS: GSPE attenuated the clinical severity of arthritis and decreased histological damage. GSPE treatment reduced the number of TLR4-stained cells in the synovium of mice with CIA. GSPE also downregulated the expression of TLR4, myeloid differentiation factor 88 (MyD88) and phosphorylated IκBα synovial protein in CIA mice. Concurrently, GSPE inhibited the nuclear translocation of nuclear factor-κB (NF-κB) subunits (p65 and p50). LPS-induced TLR4 activation was suppressed by GSPE in human FLS as well as in murine macrophages in vitro. CONCLUSIONS: Our results demonstrated that GSPE ameliorated CIA by regulating the TLR4-MyD88-NF-κB signaling pathway.
Animals ; Arthritis* ; Arthritis, Experimental ; Arthritis, Rheumatoid ; Blotting, Western ; Humans ; In Vitro Techniques ; Macrophages ; Mice ; Myeloid Differentiation Factor 88 ; Osteoarthritis ; Synovial Membrane ; Toll-Like Receptor 4 ; Vitis*

Objectives: The purpose of this study was to evaluate the clinical and radiographic characteristics of idiopathic bone cavity (IBC) to determine the effect of surgical intervention on the process of healing. Materials and Methods: All cases diagnosed with IBC during the period of 2011 to 2020 at our Department of Oral and Maxillofacial Surgery were searched. Ninety cases were retrieved. The features evaluated were sex, age, contour of the lesion, number of teeth involved, site, history of trauma, and postoperative healing pattern. The significance of differences was assessed by Mann–Whitney U test and chi-square test. Results: The female:male ratio showed no predilection toward either sex (0.9:0.8). The mean age of the collected sample was 22.05±14.38 years, and the age ranged from 10 to 58 years. All cases presented in the mandible and showed well-circumscribed radiolucency. Margins were either scalloped or round in shape, and the size varied from one tooth to six teeth involvement. Seventy cases involved three or fewer roots. Three cases showed bilateral lesion. Four cases had a history of trauma at the area of the lesion. Fifty-one cases were followed for six months after surgery, and all showed increased bone density at the lesion. Conclusion There is no definitive radiological or clinical feature of IBC. Considering the diversity of clinical and radiological features, such a diagnosis relies primarily on surgical findings of an empty bone cavity with no epithelial lining. Our data suggest that surgical intervention be the first choice of treatment as opposed to observation.

Purpose: This study aimed to examine the effects of disaster perception, disaster attitude, and communication skills on disaster nursing competence among nurse officers at armed forces hospitals. Methods: In this descriptive study, data were collected from 191 nurse officers at armed forces hospitals in Korea, using convenience sampling. Data were analyzed by conducting descriptive statistics, the independent sample t-test, one-way analysis of variance, the Scheffé test, Pearson correlation coefficients, and multiple regression analysis. Results: The mean scores for disaster perception, disaster attitude, communication skills, and disaster nursing competency were 73.02±7.66, 36.86±3.96, 57.97±6.39, and 52.88±7.66, respectively. Disaster perception was correlated with disaster attitude (r=.32, p=.002), communication skills (r=.46, p<.001) and disaster nursing competence (r=.40, p<.001). Disaster attitude was correlated with communication skills(r=.28, p<.001) and disaster nursing competence (r=.19, p=.008). Communication skills were correlated with disaster nursing competence (r=.50, p<.001). The factors influencing nurse officers’ disaster nursing competence were communication skills (β=.34, p<.001), disaster perception (β=.20, p=.003), experience in disaster education (β=-.20, p=.001), experience in disaster nursing work (β=-.14, p=.022) and working experience (β=.14, p=.033). Conclusion Disaster nursing competence had a positive correlation with recognition of communication skills, disaster perception, experience of disaster education, and experience of disaster nursing work.

Objectives: The purpose of this study was to evaluate risk factors and symptoms in cemento-osseous dysplasia (COD) patients. Materials and Methods: In this study, 62 patients who were diagnosed histologically with COD were investigated from 2010 to 2020 at the author’s institution. We compared clinical and radiological characteristics of symptomatic and asymptomatic patients. The factors were sex, age, lesion size, site, radiologic stage of lesion, apical involvement, sign of infection, and history of tooth extraction. Statistical analysis was performed using Fisher’s exact test and the chi-square test. Results: COD was more prevalent in female patients. With the exception of three cases, all were focal COD. The majority of patients presented with symptoms when the lesion was smaller than 1.5 cm in size. Symptoms were observed when the apex of the tooth was included in the lesion or there was a local infection around the lesion. The history of tooth extraction and previous endodontic treatment were evaluated, and history was not a significant predictor for the onset of symptoms. Conclusion In this study, risk factors associated with symptomatic patients were size of lesion, apical involvement, and local infection.

Objectives: The purpose of this study is to investigate the characteristics of dentigerous and radicular cysts that occur between deciduous and succeeding permanent teeth and to propose considerations for differential diagnosis of cysts at the treatment planning stage in the outpatient clinic. Materials and Methods: A total of 87 patients with a cystic lesion located between a deciduous tooth and the succeeding permanent tooth participated in the study. Twelve variables were analyzed to diagnose such a cyst. For data analysis, Fisher’s exact test was used to determine the statistical significance of the variables. Results: Of the total 87 patients who participated in this study, 69 were diagnosed with dentigerous cysts and 18 were diagnosed with radicular cysts.Seven of the 12 differential factors analyzed in this study were statistically significant: age, location, symptoms, dental caries, endodontic treatment, delayed eruption, and size. Conclusion Several criteria can be considered for diagnosis of dentigerous cysts or radicular cysts. Age, location, presence of symptoms and dental caries, previous endodontic treatment, cystic size, and delayed eruption of impacted permanent teeth are reliable factors that should be considered when diagnosing dentigerous and radicular cysts.

Mitochondrial morphology is dynamically regulated by forming small, fragmented units or interconnected networks, and this is a pivotal process that is used to maintain mitochondrial homeostasis. Although dysregulation of mitochondrial dynamics is related to the pathogenesis of several human diseases, its molecular mechanism is not fully elucidated. In this study, we demonstrate the potential role of miR-27 in the regulation of mitochondrial dynamics. Mitochondrial fission factor (MFF) mRNA is a direct target of miR-27, whose ectopic expression decreases MFF expression through binding to its 3'-untranslated region. Expression of miR-27 results in the elongation of mitochondria as well as an increased mitochondrial membrane potential and mitochondrial ATP level. Our results suggest that miR-27 is a novel regulator affecting morphological mitochondrial changes by targeting MFF.
3' Untranslated Regions ; Cell Line ; Gene Expression Regulation ; Humans ; Membrane Potential, Mitochondrial ; Membrane Proteins/*genetics ; MicroRNAs/*metabolism ; Mitochondria/*genetics/*metabolism ; *Mitochondrial Dynamics ; Mitochondrial Proteins/*genetics ; *Protein Biosynthesis ; RNA, Messenger/genetics/metabolism

Posaconazole is a new oral triazole with broad-spectrum antifungal activity. Posaconazole has also shown a significant advantage of preventing invasive fungal infection compared to fluconazole or itraconazole in patients with prolonged neutropenia. Indeed, posaconazole has been commonly used for antifungal prophylaxis in patients undergoing remission induction chemotherapy for acute myelogenous leukemia or myelodysplastic syndrome. We experienced a case of fatal mucormycosis despite posaconazole prophylaxis. To our knowledge, this is the first reported case of fatal breakthrough mucormycosis in a patient receiving posaconazole prophylaxis during remission induction chemotherapy in Korea. This case demonstrated that breakthrough fungal infection can occurs in patients receiving posaconazole prophylaxis because of its limited activity against some mucorales.
Drug Therapy ; Fluconazole ; Humans ; Itraconazole ; Korea ; Leukemia, Myeloid, Acute* ; Mucorales ; Mucormycosis* ; Myelodysplastic Syndromes ; Neutropenia ; Remission Induction