Merkel cell carcinoma is an extremely rare neuroendocrine neoplasm of the external auditory canal (EAC) skin, which requires wide excision and adjuvant radiation due to a high recurrence rate. In this report, we describe a case of Merkel cell carcinoma arising from the EAC which was successfully treated with endoscopic excision. A 32-years-old female patient with a history of papillary thyroid cancer was diagnosed with an EAC tumor incidentally. There was a erythematous papular lesion on the posterior EAC without any evidence of locoregional metastasis. The patient underwent endoscopic tumor resection under general anesthesia, and the final pathologic report confirmed the diagnosis of Merkel cell carcinoma. There was no clinical or radiographic evidence of recurrence or metastasis of Merkel cell tumor for 41 months after surgical resection alone.

Differentiating between nocturnal seizures and sleep-related behaviors is challenging; a detailed history and careful examination are imperative. There have been some case reports of patients who were comorbid with nocturnal seizures and obstructive sleep apnea (OSA). Here, we report a case of an overweight 12-year-old boy diagnosed with sleep-related epilepsy and comorbid OSA. We were able to make these two diagnoses by performing polysomnography with full extended electroencephalography on our patient, who complained of recurrent nocturnal choking episodes during sleep. What differentiates our case is that after further evaluation, the cause of our patient’s OSA was ultimately determined to be laryngeal lymphoid hyperplasia.

Here we report a case of a focal atypical proliferative nodule (PN) arising from a congenital melanocytic nevus (CMN). Diagnosis was challenging because it had both benign and malignant clinical features. Unusual histopathology, immunohistochemistry, and intraoperative findings of this atypical PN are discussed. A 5-year-old girl was admitted for a congenital 5× 5 cm sized scalp mass. This hemangioma-like soft mass showed biphasic characteristics such as a slow, gradual, and benign increase in size but worrisome dural invasion with cranial bone defect. We removed the scalp mass with clear resection margins. Interoperatively, we found that the cranial bone defect had already filled. Histopathologic examination showed CMN with focal atypical PN. The nodule showed sharp demarcation and cellular pleomorphism. However, in immunohistochemical study, Ki-67 proliferation index and expression levels of protein S-100 and Melan-A were very low. These were unusual findings of atypical PNs. Despite her worrisome preoperative radiologic features, she showed an indolent clinical course compatible with previously reported biologic behavior. The patient underwent follow-up inspection with magnetic resonance imaging every 6 months for up to 3 years. The nodule appeared to be stationary at the last visit.
Child, Preschool ; Diagnosis ; Dura Mater ; Female ; Follow-Up Studies ; Humans ; Immunohistochemistry ; Magnetic Resonance Imaging ; MART-1 Antigen ; Neoplasm Invasiveness ; Nevus, Pigmented ; Scalp ; Tissue Expansion Devices

BACKGROUND: Loss-of-function mutations in the filaggrin gene (FLG), which encodes an epidermal protein crucial for the formation of a functional skin barrier, have been identified as a major predisposing factor in the etiopathogenesis of atopic dermatitis (AD). Recent reports of relatively low frequencies of FLG-null mutations among specific ethnic groups with AD necessitated analysis of the epigenetic regulation which may control FLG expression without altering its DNA sequence. OBJECTIVE: The study aimed to identify DNA methylation-dependent regulation of FLG expression. METHODS: Quantitative polymerase chain reaction was performed to determine the restoration of FLG mRNA expression in normal human epidermal keratinocyte (NHEK) cells after treatment with epigenetic modulating agents. Bisulfite genomic sequencing and pyrosequencing analyses of the FLG promoter region were conducted to identify the citical CpG sites relevant to FLG expression. We performed small-scale pilot study for epidermal tissues obtained from Korean patients with severe AD. RESULTS: We here show that DNA methylation in the FLG with non-CpG island promoter is responsible for the transcriptional regulation of FLG in undifferentiated NHEK cells. The methylation frequencies in a single CpG site of the FLG promoter were significantly higher in lesional epidermis than those in matched nonlesional epidermis of subjects with severe AD. CONCLUSION Our in vitro and clinical studies point to this unique CpG site as a potential DNA methylation marker of FLG, which can be a promising therapeutic target in the complications of filaggrin-related skin barrier dysfunction as well as in AD.

OBJECTIVES: To identify the factors that are most significantly associated with the decline of Activities of Daily Living (ADL) status in subjects with Mild Cognitive Impairment (MCI) and early dementia of primary degenerative cause. METHODS: Medical records, results of neuropsychological tests, and Activities of Daily Living scale were retrospectively analyzed in 134 subjects meeting the diagnostic criteria of MCI or early dementia, respectively. Demographic factors, memory functions, depressive symptoms and executive functions of the participants were also analyzed. RESULTS: Correlations revealed that measures of executive functions were significantly associated with ADL status in participants with MCI, while both memory and executive functions were significantly associated in early demented elderly. Stroop test which measures the ability of inhibition showed the closest relation to executive function. Depressive symptoms did not have a significant influence on ADL status. CONCLUSION: Among participants with MCI, the early functional difficulties are associated mainly with executive function, which enables inhibition in particular. In participants with early dementia, on the contrary, the ADL status was associated with both executive function and memory. Further studies on the symptom pattern and related neuropathology in process of dementia progression are needed for Quality of Life (QoL) in elderly population.
Activities of Daily Living ; Aged ; Dementia ; Demography ; Depression ; Executive Function ; Humans ; Medical Records ; Memory ; Mild Cognitive Impairment ; Neuropsychological Tests ; Quality of Life ; Retrospective Studies ; Stroop Test

The aim of this study was to investigate the association between macronutrient composition and metabolic syndrome (MetS) incidence in Korean adults. Data were obtained from a cohort of 10,030 members aged 40 to 69 years who were enrolled from the 2 cities (Ansung and Ansan) between 2001 and 2002 to participate in the Korean Genome Epidemiology Study. Of these members, 5,565 participants, who were free of MetS and reported no diagnosis of cardiovascular disease at baseline, were included in this study. MetS was defined using the criteria of the National Cholesterol Education Program-Adult Treatment Panel III and Asia-Pacific criteria for waist circumference. MetS incidence rate were identified during a 2-year follow-up period. Baseline dietary information was obtained using a semi-quantitative food frequency questionnaire. Multivariate logistic regression analysis was used to evaluate the association between the quartiles of percentages of total calorie from macronutrients consumed and MetS incidence. In analyses, baseline information, including age, sex, body mass index, income status, educational status, smoking status, alcohol drinking status, and physical activity level was considered as confounding variables. Participants with the second quartile of the percentages of carbohydrate calorie (67%–70%) had a 23% reduced odds ratio (95% confidence interval, 0.61–0.97) for MetS incidence compared with those with the fourth quartile after adjusting for confounding variables. The findings suggest that middle aged or elderly Korean adults who consume approximately 67%–70% of calorie from carbohydrate have a reduced risk of MetS.
Adult* ; Aged ; Alcohol Drinking ; Body Mass Index ; Cardiovascular Diseases ; Cholesterol ; Cohort Studies ; Confounding Factors (Epidemiology) ; Diagnosis ; Education ; Educational Status ; Epidemiology ; Follow-Up Studies ; Genome ; Humans ; Incidence* ; Logistic Models ; Middle Aged ; Motor Activity ; Odds Ratio ; Smoke ; Smoking ; Waist Circumference

Purpose: Testosterone hormonal replacement is the most commonly prescribed solution for men with reproductive issues; however, this treatment has various drawbacks. Hence, the identification of a natural product that promotes steroidogenesis is urgently needed. Ginseng is a popular traditional medicine. This study aimed to investigate steroidogenic effects of Korean ginseng berry extract (GBE; Panax ginseng C.A. Meyer) in Vitro and In Vivo. Materials and Methods: In Vitro model, mouse Leydig cells were treated with varying concentrations of GBE, and the levels of steroidogenesis-related genes and proteins and testosterone were measured using western blotting, qRT-PCR, and enzyme-linked immunosorbent assay (ELISA). Similarly, in an in Vivo model using lipopolysaccharide-injected C57BL/6J mice, expression of steroidogenesis-related genes and proteins and testosterone levels were analyzed. Additionally, sleep deprivation was used to simulate common life stressors related to late-onset hypogonadism (LOH) and the natural effects of aging. Mice were fed sham or GBE before being subjected to paradoxical sleep deprivation. Results: In Vitro, GBE induced steroidogenic effects by increasing the levels of enzymes associated with steroidogenesis, steroidogenic acute regulatory protein (STAR), CYP11A1, and CYP17A1. In Vivo, GBE significantly increased mRNA and protein levels of steroidogenic enzymes. Furthermore, the synthetic testosterone levels in mouse Leydig cell supernatants and blood sera were increased. In the sleep deprivation study, mice fed GBE showed increased testosterone production and survival under such stressful conditions. Conclusions GBE increased mRNA and protein levels of steroidogenesis-related enzymes STAR, CYP11A1, and CYP17A1. These key enzymes induced the increased production of testosterone both in Vivo and in Vitro. Thus, GBE might be a promising therapeutic or additive nutritional agent for improving men’s health by increasing steroidogenesis or improving LOH.

Purpose: The measurement of stool elastase (SE) level is useful for evaluating pancreatic exocrine function. This study aimed to determine the risk factors for severe exocrine pancreatic insufficiency (EPI) after pancreatoduodenectomy (PD), and analyze serial changes in nutritional markers and weight based on the SE level. Methods: Among patients who underwent PD for periampullary disease, patients whose preoperative and postoperative SE levels were measured were included in the study. The deteriorated (exocrine function) group comprised patients whose SE levels decreased from ≥100 µg/g preoperatively to <100 µg/g postoperatively. Patients whose weight 12 months postoperatively was greater than that 3 months postoperatively were classified into the weight-recovery group. Results: Of the 202 included patients, the deteriorated group had a higher incidence of preoperative SE level above 200 μg/ g, benign pathology, and the presence of a clinically relevant postoperative pancreatic fistula than the maintained group. Patients who did not undergo weight recovery had a higher rate of history of adjuvant radiotherapy compared to the norecovery group. Conclusion The evaluation of EPI by measuring SE alone is not sufficient because it does not reflect the nutritional status of patients, and a comprehensive approach that considers other parameters is required for EPI management.