Myasthenia gravis (MG) is an antibody-mediated autoimmune disease characterized by exertional weakness. There is no biomarker to reflect disease activity and guide treatment decision. Here, we reported a pilot blood transcriptome study using RNA sequencing (RNA-seq) that identified differences of 5 samples in active status and 5 in remission from 8 different patients and 2 patients provided samples for both active and remission phase. We found a total of 28 differentially expressed genes (DEGs) possibly related to disease activity (23 up-regulated and 5 down-regulated). The DEGs were enriched for the cell motion and cell migration processes in which included were ICAM1, CCL3, S100P and GAB2. The apoptosis and cell death pathway was also significantly enriched, which includes NFKBIA, ZC3H12A, TNFAIP3, and PPP1R15A. Our result suggests that transcript abundance profiles of the genes involved in cell trafficking and apoptosis may be a molecular signature of the disease activity in MG patients.
Apoptosis ; Autoimmune Diseases ; Cell Death ; Cell Movement ; Gene Expression Profiling* ; Humans ; Myasthenia Gravis* ; Sequence Analysis, RNA ; Transcriptome*

Percutaneous needle aspiration biopsy is a reliable and useful procedure for diagnosing tumor with a low rate of complications and high diagnostic reliability. Subcutaneous malignant seeding of the needle tract is a well-known complication of percutaneous needle aspiration biopsy. Implantation metastases of the abdominal and chest walls have been reported after puncturing the tumor lesions of the liver, kidney, adrenal gland, lung and pleura. We report here on a case of subcutaneous seeding of hepatoid thymic carcinoma on the right upper back after a percutaneous needle aspiration biopsy.
Adrenal Glands ; Biopsy, Needle ; Kidney ; Liver ; Lung ; Needles ; Neoplasm Metastasis ; Pleura ; Seeds ; Thorax ; Thymoma

The second-generation oral anticancer agent UFT is a combination of uracil, which has fluorouracil's (5-FU) degradation-inhibitory effect, and tegafur, which is slowly converted to 5-FU in vivo, and UFT shows a higher 5-FU concentration in the tumor tissues than is achieved by tegafur alone or with comparable doses of intravenous 5-FU. Mucocutaneous side reactions induced by UFT are rare and these include photosensitivity of the lichenoid and eczematous types, acral erythema, hyperpigmentation, palmoplantar keratoderma and scleroderma-like reactions, and discoid lupus erythematosus (DLE)-like eruption. However, there has been no report in the Korean medical literature on patients presenting with a DLE-like eruption associated with UFT. So, we report here a case of DLE-like eruption induced by oral UFT.
Erythema ; Fluorouracil ; Humans ; Hyperpigmentation ; Keratoderma, Palmoplantar ; Lupus Erythematosus, Discoid ; Tegafur ; Uracil

BACKGROUND: Imiquimod is an immune response modifier that shows antiproliferative and antiviral characteristics through synthesis of multiple cytokines. Although it was originally approved by the Food and Drug Administration for the treatment of anogenital warts, it has also been successfully used to treat various skin conditions. OBJECTIVE: The aim of this study was to evaluate the current usage of 5% imiquimod cream for the treatment of various skin conditions in dermatologic clinics. METHODS: We reviewed the records of 270 patients with various skin conditions who were treated with 5% imiquimod cream. Data was collected through medical records, clinical photographs, and biopsy specimens. RESULTS: Besides anogenital warts, 5% imiquimod cream has been prescribed in more than 20 skin conditions. The most common skin disease was verruca vulgaris. Others, in order of prevalence, were molluscum contagiosum, actinic keratosis, condyloma accuminatum, and verruca plana. Among the 270 patients who were treated with 5% imiquimod cream, more than two-thirds showed clinical response, but only 26 patients (9.7%) achieved clinical complete remission with median clearing time of 7.3 weeks. While applying 5% imiquimod cream, 82 patients (30.4%) experienced local side effects that were generally mild and generally well-tolerated. The most common side effect was erythema and the others, in order of prevalence, were oozing, itching sensation, burning sensation, scabbing, erosion and pain. No systemic side effects were found. CONCLUSION: Although 5% imiquimod cream is licensed in Korea only for treatment of adult anogenital warts, other skin diseases such as verruca vulgaris are more commonly the treatment target in dermatologic clinics. As the reported therapeutic effects are various, more clinical studies are required to assess the safety and efficacy of imiquimod for the treatment of various skin conditions.
Adult ; Aminoquinolines ; Biopsy ; Burns ; Cytokines ; Erythema ; Humans ; Keratosis, Actinic ; Korea ; Medical Records ; Molluscum Contagiosum ; Prevalence ; Pruritus ; Sensation ; Skin ; Skin Diseases ; United States Food and Drug Administration ; Warts

Background: Quantitative evaluation of renal cortical echogenicity (RCE) has been tried anddeveloped in human and veterinary medicine. Objectives: The objective of this study was to propose a method for evaluating RCEquantitatively and intuitively, and to determine associations between ultrasonographic renalstructural distinction and estimated glomerular filtration rate (eGFR) in canine chronickidney disease (CKD). Methods: Data were collected on 63 dogs, including 27 with normal kidney function and 36CKD patients. Symmetric dimethylarginine and creatinine concentrations were measuredfor calculating eGFR. RCE was evaluated as 3 grades on ultrasonography images accordingto the distinction between the renal cortex and outer medulla. The RCE grade of each kidneywas measured. Results: There was a significant difference in eGFR between the group normal and CKD (p< 0.001). As mean of RCE grades (the mean values of each right and left kidney's RCE grade)increases, the proportion of group CKD among the patients in each grade increases (p <0.001). Also, severity of RCE (classified as "high" if any right or left kidney evaluated as RCEgrade 3, "low" otherwise) and eGFR is good indicator for predicting group CKD (p < 0.001). Conclusions The degree of distinction between the renal cortex and the outer medulla isclosely related to renal function including eGFR and the RCE grade defined in this study canbe used as a method of objectively evaluating RCE.

Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder that results from a germline mutation of the VHL gene. The affected individuals might develop several benign or malignant tumors such as central nervous system or retinal haemangioblastomas, endolymphatic sac tumors, renal cell carcinomas, pheochromocytomas or pancreatic cysts and neuroendocrine tumors. We report here on a case of a 21 year old female with von Hippel-Lindau disease and she presented with only pancreatic neuroendocrine tumor and no evidence of haemangioblastomas or other visceral complications. Further, direct sequencing of the VHL gene reveals a novel germline frameshift mutation of codon 198 from the deletion of nucleotide 592 (cytosine), leading to truncation of the VHL protein.
Carcinoma, Renal Cell ; Central Nervous System ; Codon ; Endolymphatic Sac ; Female ; Frameshift Mutation ; Germ-Line Mutation ; Humans ; Neuroendocrine Tumors ; Pancreas ; Pancreatic Cyst ; Pheochromocytoma ; Retinaldehyde ; von Hippel-Lindau Disease

Use of a saline chaser has been reported to allow reduction of contrast dose and artifacts during computed tomography (CT) examination in humans. This study assesses the extent of contrast dose by using a saline chaser in abdominal CT scans of normal dogs. Five beagles underwent abdominal CT scans. Three protocols were applied: 600 mg I/kg iohexol without saline chaser (protocol 1), 30% lower dose of iohexol (420 mg I/kg) followed by a 10 mL saline chaser (protocol 2), and 40% lower dose of iohexol (360 mg I/kg) followed by a 10 mL saline chaser (protocol 3). Attenuation values were obtained from aorta, portal vein, and liver parenchyma. The maximum enhancement values (MEVs) in protocol 2 were significantly higher than those in protocols 1 and 3 in the aorta; no difference was seen in the portal vein in all protocols. The liver parenchymal MEVs in protocols 1 and 2 were significantly higher than those obtained in protocol 3. In this study, the use of a saline chaser and a reduced dose of contrast material did not affect vessel enhancement. In conclusion, use of a saline chaser for abdominal CT of dogs is recommended because it allows a 30% reduction of contrast dose without decreasing vascular and hepatic parenchymal enhancement.
Abdomen ; Animals ; Aorta ; Artifacts ; Dogs ; Humans ; Iohexol ; Liver ; Portal Vein ; Tomography, X-Ray Computed

BACKGROUND AND PURPOSE: Two conversion scales between the Mini-Mental State Examination (MMSE) and the Montreal Cognitive Assessment (MoCA) have been validated for Korean patients with Parkinson's disease. The aim of the present study was to validate these conversion scales for all patients with cognitive impairments regardless of dementia subtype. METHODS: Medical records of 323 subjects who completed both MMSE and MoCA on the same day were retrospectively reviewed. Mean, median, and root mean squared error (RMSE) of the difference between true and equivalent MMSE scores were calculated. Intraclass correlation coefficients (ICCs) between true and equivalent MMSE scores were also calculated. The validity of MoCA-MMSE conversion scales was evaluated according to educational level (low educated: ≤6 years; high educated: ≥7 years) and subtypes of cognitive impairment. RESULTS: The difference between true and equivalent MMSE scores had a median value of 0, a mean value of 0.19 according to the van Steenoven scale, a mean value of 0.57 according to the Lawton scale, RMSE value of 2.2 according to the van Steenoven scale, and RMSE value of 0.42 according to the Lawton scale. Additionally, ICCs between true and equivalent MMSE scores were 0.92 and 0.90 on van Steenovan and Lawton conversion scales, respectively. These results were maintained in subgroup analyses. CONCLUSIONS: Findings of the present study suggest that both van Steenovan and Lawton MoCA-MMSE conversion scales are applicable to transforming MoCA scores into MMSE scores in patients with cognitive impairments regardless of dementia subtype or educational level.
Cognition Disorders* ; Dementia ; Humans ; Medical Records ; Methylenebis(chloroaniline) ; Parkinson Disease ; Retrospective Studies ; Weights and Measures*

A low-dose chest CT is performed for early detection of lung cancer, but the CT scan frequently shows several incidental abnormalities. Identification of the incidental findings may enable early detection of diseases other than lung cancer, thereby improving the survival of the individual undergoing screening. However, insignificant incidental abnormalities may cause unnecessary additional examination and costs. It is crucial for radiologists to appropriately comprehend and report significant incidental abnormalities other than lung cancer for successful implementation of the national lung cancer screening program in Korea.

Purpose: This study aimed to investigate the efficacy of adjuvant chemotherapy after neoadjuvant chemoradiotherapy (CCRTx) followed by surgery in patients with esophageal squamous cell carcinoma (ESCC). Materials and Methods: We retrospectively analyzed the data from 382 patients who received neoadjuvant CCRTx and esophagectomy for ESCC between 2003 and 2018. Results: This study included 357 (93.4%) men, and the years median patient age was 63 (range, 40 to 84 years). Overall, 69 patients (18.1%) received adjuvant chemotherapy, whereas 313 patients (81.9%) did not. The median follow-up period was 28.07 months (interquartile range, 15.50 to 62.59). The 5-year overall survival (OS) and disease-free survival were 47.1% and 42.6%, respectively. Adjuvant chemotherapy did not improve OS in all patients, but subgroup analysis revealed that adjuvant chemotherapy improved the 5-year OS in patients with ypT+N+ (24.8% vs. 29.9%, p=0.048), whereas the survival benefit of adjuvant chemotherapy was not observed in patients with ypT0N0, ypT+N0, or ypT0N+. Multivariable analysis revealed that ypStage and adjuvant chemotherapy (hazard ratio, 0.601; p=0.046) were associated with OS in patients with ypT+N+. Freedom from distant metastasis was marginally different according to the adjuvant chemotherapy (48.3% vs. 41.3%, p=0.141). Conclusion Adjuvant chemotherapy after neoadjuvant therapy followed by surgery reduces the distant metastasis in ypT+N+ ESCC patients, thereby improving the OS. The consideration could be given to administration of adjuvant chemotherapy to ypT+N+ ESCC patients with tolerable conditions.