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

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

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: 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

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*

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: Cervical esophageal cancer is a rare malignancy that requires specialized care. While definitive chemoradiation is the standard treatment approach, surgery remains a valuable option for certain patients. This study examined the surgical outcomes of patients with cervical esophageal cancer. Methods: The study involved a retrospective review and analysis of 24 patients with cervical esophageal cancer. These patients underwent surgical resection between September 1994 and December 2018. Results: The mean age of the patients was 61.0±10.2 years, and 22 (91.7%) of them were male. Furthermore, 21 patients (87.5%) had T3 or T4 tumors, and 11 (45.8%) exhibited lymph node metastasis. Gastric pull-up with esophagectomy was performed for 19 patients (79.2%), while 5 (20.8%) underwent free jejunal graft with cervical esophagectomy.The 30-day operative mortality rate was 8.3%. During the follow-up period, complications included leakage at the anastomotic site in 9 cases (37.5%) and graft necrosis of the gastric conduit in 1 case. Progression to oral feeding was achieved in 20 patients (83.3%). Fifteen patients (62.5%) displayed tumor recurrence. The median time from surgery to recurrence was 10.5 months, and the 1-year recurrence rate was 73.3%. The 1-year and 3-year survival rates were 75% and 33.3%, respectively, with a median survival period of 17 months. Conclusion Patients with cervical esophageal cancer who underwent surgical resection faced unfavorable outcomes and relatively poor survival. The selection of cases and decision to proceed with surgery should be made cautiously, considering the risk of severe complications.

Background: Major pulmonary resection after neoadjuvant concurrent chemoradiation therapy (nCCRT) is associated with a substantial risk of postoperative complications. This study investigated postoperative complications and associated risk factors to facilitate the selection of suitable surgical candidates following nCCRT in stage IIIA–N2 non-small cell lung cancer (NSCLC). Methods: We conducted a retrospective analysis of patients diagnosed with clinical stage IIIA–N2 NSCLC who underwent surgical resection following nCCRT between 1997 and 2013. Perioperative characteristics and clinical factors associated with morbidity and mortality were analyzed using univariable and multivariable logistic regression. Results: A total of 574 patients underwent major lung resection after induction CCRT.Thirty-day and 90-day postoperative mortality occurred in 8 patients (1.4%) and 41 patients (7.1%), respectively. Acute respiratory distress syndrome (n=6, 4.5%) was the primary cause of in-hospital mortality. Morbidity occurred in 199 patients (34.7%). Multivariable analysis identified significant predictors of morbidity, including patient age exceeding 70 years (odds ratio [OR], 1.8; p=0.04), low body mass index (OR, 2.6; p=0.02), and pneumonectomy (OR, 1.8; p=0.03). Patient age over 70 years (OR, 1.8; p=0.02) and pneumonectomy (OR, 3.26; p<0.01) were independent predictors of mortality in the multivariable analysis. Conclusion In conclusion, the surgical outcomes following nCCRT are less favorable for individuals aged over 70 years or those undergoing pneumonectomy. Special attention is warranted for these patients due to their heightened risks of respiratory complications. In high-risk patients, such as elderly patients with decreased lung function, alternative treatment options like definitive CCRT should be considered instead of surgical resection.