Myofibrosarcoma is a rare malignant tumor originating from myofibroblasts. It is classified into low-grade, intermediate-grade, and high-grade according to the histological characteristics. High-grade myofibrosarcoma is reported very rarely worldwide, and its recurrence and metastasis are known to be more common. Myofibrosarcoma is diagnosed by histopathologic examination, and its treatment is complete surgical excision. With a review of literature, we report a case of myofibrosarcoma originating from the right masseter muscle in a 73-year-old male patient who complained of a right chin mass for 4 months. The MRI findings revealed a 4.8 cm-sized heterogeneous contrast-enhancing mass in the right masseter muscle with direct invasion into the ipsilateral medial pterygoid muscle and the mandible body. The patient was treated with margin-free surgical excision, including marginal mandibulectomy, and a highgrade myofibrosarcoma was finally diagnosed as the pathologic finding. Adjuvant radiation therapy was performed as a subsequent treatment, and no recurrence has been observed during follow-up for 1 year.

Nasolabial cyst is a rare, non-odontogenic cyst that occurs in the submucosa of the anterior nasal floor. Its most likely origin is known to be remnants of the nasolacrimal duct. The patient usually comes to the hospital for swelling or pain in the nasolabial area, and the diagnosis is made by combining clinical features, radiologic imaging, and histological test. The most commonly used treatment is surgical excision via sublabial approach. A 40-year-old male, who had undergone maxillary orthognathic surgery for malocclusion 11 years ago, visited our hospital for pain and swelling of the nasolabial folds that had persisted for a year. A large nasolabial cyst with a size of 4.8×3.3×3.1 cm was confirmed on paranasal sinus CT, and surgical excision was performed via sublabial approach. The pathologic finding was a cyst lining consisting of ciliated pseudostratified columnal epithelium and goblet cells, consistent with the characterization of a nasolabial cyst. No recurrence was observed during follow-up for 3 months.

Background and Objectives: Vocal fold (VF) scar is known to be the most common cause of dysphonia after laryngeal microsurgery (LMS). Steroids reduce postoperative scar formation by inhibiting inflammation and collagen deposition. However, the clinical evidence of whether steroids are helpful in reducing VF scar formation after LMS is still lacking. The purpose of this study is to determine whether intralesional VF steroid injection after LMS helps to reduce postoperative scar formation and voice quality.Materials and Method This study was conducted on 80 patients who underwent LMS for VF polyp, Reinke’s edema, and leukoplakia. Among them, 40 patients who underwent VF steroid injection after LMS were set as the injection group, and patients who had similar sex, age, and lesion size and who underwent LMS alone were set as the control group. In each group, stroboscopy, multi-dimensional voice program, Aerophone II, and voice handicap index (VHI) were performed before and 1 month after surgery, and the results were statistically analyzed. Results: There were no statistically significant differences in the distribution of sex, age, symptom duration, occupation and smoking status between each group. Both groups consisted of VF polyp (n=21), Reinke’s edema (n=11), and leukoplakia (n=9). On stroboscopy, the lesion disappeared after surgery, and the amplitude and mucosal wave were symmetrical on both sides of the VFs in all patients. Acoustic parameters and VHI significantly improved after surgery in all patients. However, there was no significant difference between the injection and control group in most of the results. Conclusion There was no significant difference in the results of stroboscopy, acoustic, aerodynamic, and subjective evaluation before and after surgery in the injection group and the control group.

Background and Objectives: Metabolic syndrome is a medical problem featured by the coexistence of several risk factors such as, heart disease, stroke, and diabetes. The association between metabolic syndrome and incidental paranasal sinusitis has not been definitely proved yet. This study was established to prove if metabolic syndrome might be related to incidental paranasal sinusitis.Subjects and Method Of 5682 patients who had undergone brain MRI for regular checkups between 2011 and 2018 at Kangbuk Samsung Health Care Center, we analyzed 2882 cases with normal sinus and incidental paranasal sinusitis that had been deciphered by specialized radiologists. Data of various components of metabolic syndrome were also used. Multivariable logistic regression analysis was performed to calculate the odds ratio (OR) of having incidental paranasal sinusitis between subjects with metabolic syndrome components and those without. Results: Of 2882 patients aged over 18 years (mean age, 51.8±9.47 years; 55.4% male), 353 incidental paranasal sinusitis subjects (232 male with mean age of 51.39±9.27 years and 121 female with mean age of 52.43±9.69 years) were identified. Metabolic syndrome was identified in 554 patients. The adjusted OR of having incidental paranasal sinusitis was 3.03 (95% confidence interval [CI]: 1.58-5.83) in female with metabolic syndrome. In female, the adjusted OR of having incidental paranasal sinusitis was 2.10 (95% CI: 1.20-3.67) in those with low high density lipoprotein (HDL) cholesterol (<50 mg/dL) and 1.83 (95% CI: 1.06-3.16) in those with higher body mass index (BMI) (≥25 kg/m2). Conclusion Results of this study suggest that female with metabolic syndrome, low HDL cholesterol, and high BMI have higher risks for incidental paranasal sinusitis.

Background/Aims: Lung function is an objective indicator of diagnosis and prognosis of respiratory diseases. Many common genetic variants have been associated with lung function in multiple ethnic populations. We looked for coding variants associated with forced expiratory volume in 1 second (FEV1) and FEV1/forced vital capacity (FVC) in the Korean general population. Methods: We carried out exome array analysis and lung function measurements of the FEV1 and FEV1/FVC in 7,524 individuals of the Korean population. We evaluated single variants with minor allele frequency greater than 0.5%. We performed look-ups for candidate coding variants associations in the UK Biobank, SpiroMeta, and CHARGE consortia. Results: We identified coding variants in the SMIM29 (C6orf1) (p = 1.2 × 10–5) and HMGA1 locus on chromosome 6p21, the GIT2 (p = 6.5 × 10–5) locus on chromosome 12q24, and the ARHGEF40 (p = 9.9 × 10–5) locus on chromosome 14q11 as having a significant association with lung function (FEV1). We also confirmed a previously reported association with lung function and chronic obstructive pulmonary disease in the FAM13A (p = 4.54 × 10–6) locus on chromosome 4q22, in TNXB (p = 1.30 × 10–6) and in AGER (p = 1.09 × 10–8) locus on chromosome 6p21. Conclusions Our exome array analysis identified that several protein coding variants were associated with lung function in the Korean population. Common coding variants in SMIM29 (C6orf1), HMGA1, GIT2, FAM13A, TNXB, AGER and low-frequency variant in ARHGEF40 potentially affect lung function, which warrant further study.

Myofibroblastic sarcoma (MS) is an extremely rare form of head and neck tumor that originates from mesenchymal cells. Myofibroblasts are mesenchymal spindle cells that share the features of fibroblasts and smooth muscle cells. Radiologic examinations such as CT and MRI are useful first-line diagnostic tools for differential diagnosis. Complete surgical excision is recommended for successful treatment. MS can be classified as low, intermediate or high grade considering its histological differentiation and time course. Intermediate and high grade MS are known to be related to local recurrence or distant metastasis. With a review of literature, we report a case of MS arising from the left buccal mucosa in a 56-year-old male who complained of a painless left buccal mass. The patient was successfully treated by margin-free excision and the pathologic findings concluded as intermediate grade without any complication. There was no recurrence observed for two years since the surgery.

The meta-analysis has become a widely used tool for many applications in bioinformatics, including genome-wide association studies. A commonly used approach for meta-analysis is the fixed effects model approach, for which there are two popular methods: the inverse variance-weighted average method and weighted sum of z-scores method. Although previous studies have shown that the two methods perform similarly, their characteristics and their relationship have not been thoroughly investigated. In this paper, we investigate the optimal characteristics of the two methods and show the connection between the two methods. We demonstrate that the each method is optimized for a unique goal, which gives us insight into the optimal weights for the weighted sum of z-scores method. We examine the connection between the two methods both analytically and empirically and show that their resulting statistics become equivalent under certain assumptions. Finally, we apply both methods to the Wellcome Trust Case Control Consortium data and demonstrate that the two methods can give distinct results in certain study designs.
Case-Control Studies ; Computational Biology ; Genome-Wide Association Study ; Methods* ; Weights and Measures

Fulminant type 1 diabetes (T1DM) is a distinct subtype of T1DM that is characterized by rapid onset hyperglycemia, ketoacidosis, absolute insulin deficiency, and near normal levels of glycated hemoglobin at initial presentation. Although it has been reported that class II human leukocyte antigen (HLA) genotype is associated with fulminant T1DM, the genetic predisposition is not fully understood. In this study we investigated the HLA genotype and haplotype in 11 Korean cases of fulminant T1DM using imputation of whole exome sequencing data and compared its frequencies with 413 participants of the Korean Reference Panel. The HLA-DRB1*04:05-HLA-DQB1*04:01 haplotype was significantly associated with increased risk of fulminant T1DM in Fisher's exact test (odds ratio [OR], 4.11; 95% confidence interval [CI], 1.56 to 10.86; p = 0.009). A histidine residue at HLA-DRbeta1 position 13 was marginally associated with increased risk of fulminant T1DM (OR, 2.45; 95% CI ,1.01 to 5.94; p = 0.054). Although we had limited statistical power, we provide evidence that HLA haplotype and amino acid change can be a genetic risk factor of fulminant T1DM in Koreans. Further large-scale research is required to confirm these findings.
Autoimmunity ; Exome ; Genetic Predisposition to Disease ; Genotype* ; Haplotypes ; Hemoglobin A, Glycosylated ; Histidine ; HLA Antigens ; Humans ; Hyperglycemia ; Insulin ; Ketosis ; Leukocytes ; Risk Factors

PURPOSE: The latissimus dorsi flap and the serratus anterior flap have been used as combined flaps to reconstruct extensive defects. Because these two muscles are usually supplied by the subscapular- thoracodorsal vessels, the two flaps can be based on vascular pedicle that is long and anatomically reliable. In this case, we reported that serratus anterior possessed an anomalous arterial supply totally independent from the subscapular pedicle while raising combined latissimus dorsi and serratus anterior flap. METHODS: A 35-year-old male with extensive soft tissue defect in the left perineum and thigh visited. Muscle defects of the medial thigh were observed, and femoral nerve and vessels were exposed. Combined latissimus dorsi and serratus anterior free flap was raised to reconstruct defect. On raising flaps, artery supplying the serratus anterior muscle originated from the axillary artery directly, was lying on the undersurface of the serratus anterior muscle. RESULTS: Because two flap pedicles had no communication and latissimus dorsi muscle was large enough to cover soft tissue defect, we transferred only latissimus dorsi free flap with 1:3 meshed skin graft. Patient had limb salvage and satisfactory functional outcome. CONCLUSION: There are many variations of arterial pedicles of flaps. However, most of these variations remain within known anatomical consistence, thus is an indicator in planning the dissection of the vessels. According to documents, arterial pedicle to the serratus muscle not originated from the thoracodorsal artery is rarely reported, and in most of these cases, the arteries are originated from the subscapular artery. Thus pedicle directly originated from the axillary artery to serratus muscle is a very rare variation in its vascular anatomy.
Adult ; Arteries ; Axillary Artery ; Deception ; Femoral Nerve ; Free Tissue Flaps ; Humans ; Limb Salvage ; Male ; Muscles ; Perineum ; Skin ; Thigh ; Transplants

Nitric oxide (NO) is a gaseous messenger that plays a role in neurotransmission, long term potentiation, depression and cerebral blood flow. Increases in intracellular calcium levels activate the enzyme NOS, and the NO released then diffuse to adjacent cells and activate guanylate cyclase. NO mediates the increase in cerebral blood flow during seizure activity. Therefore, the present study was aimed to investigate the change of NOS and calcium binding proteins in the rat cerebral cortex following seizure. Rats were injected with kainate (KA) and killed at 6 hours, 1, 3, 5 and 10 days after seizure. Expressional change of nNOS, calbindin D28k and parvalbumin was assessed by histochemistry, immunohistochemistry and microdensitometry in the rat brain. The intensity of the NADPH -d staining in rat cortical neurons showed a marked susceptibility to KA administration. At 6 hours and 3 days after seizure, the optical density of the NADPH -d staining was increased relative to the signal in saline treated control rats. At 5 and 10 days after seizure, the optical density of NADPH -d staining was not significantly different in most cortical regions compared to controls. In the hippocampus, the optical density of NADPH -d staining was highest at 5 days after seizure. The optical densities of calbindin D28k and parvalbumin positive neurons were various in the cerebral cortex, hippocampus and caudatoputamen during postseizure period. These results indicate that the calcium binding proteins investigated here are not essential for determining the activation of nNOS/NADPH -d positive neurons in the cerebral cortex and striatum.
Animals ; Brain* ; Calbindin 1 ; Calbindins ; Calcium* ; Calcium-Binding Proteins ; Carrier Proteins* ; Cerebral Cortex ; Depression ; Guanylate Cyclase ; Hippocampus ; Immunohistochemistry ; Kainic Acid ; Long-Term Potentiation ; NADP* ; Neurons* ; Nitric Oxide ; Rats* ; Seizures* ; Synaptic Transmission