Transient neonatal diabetes mellitus (TNDM) is a rare form of diabetes mellitus that presents within the first 6 months of life with remission in infancy or early childhood. TNDM is mainly caused by anomalies in the imprinted region on chromosome 6q24; however, recently, mutations in the ABCC8 gene, which encodes sulfonylurea receptor 1 (SUR1), have also been implicated in TNDM. Herein, we present the case of a male child with TNDM whose mutational analysis revealed a heterozygous c.3547C>T substitution in the ABCC8 gene, leading to an Arg1183Trp mutation in the SUR1 protein. The parents were clinically unaffected and did not show a mutation in the ABCC8 gene. This is the first case of a de novo ABCC8 gene mutation in a Korean patient with TNDM. The patient was initially treated with insulin and successfully switched to sulfonylurea therapy at 14 months of age. Remission of diabetes had occurred at the age of 16 months. Currently, the patient is 21 months old and is euglycemic without any insulin or oral hypoglycemic agents. His growth and physical development are normal, and there are no delays in achieving neurological and developmental milestones.
ATP-Binding Cassette Transporters ; Child ; Diabetes Mellitus ; Humans ; Hypoglycemic Agents ; Infant ; Insulin ; Male ; Parents ; Potassium Channels, Inwardly Rectifying ; Receptors, Drug

An intraosseous epidermal cyst is a rare benign cystic lesion. It is thought to result from congenital factors or trauma and can lead to bone destruction because the cyst develops at the soft tissue around the bone. Radiological findings of intraosseous epidermal cysts are a well-defined radiolucent lesion, with cortical expansion. It is important to differentiate an intraosseous epidermal cyst with other disease developed at distal phalanx because its clinical and radiological findings are similar. We report two rare cases of intraosseous epidermal cysts that developed at the distal phalanx.
Epidermal Cyst*

It is very important to screen the elderly for nutritional risk, because nutritional status is a critical factor to maintain their health. Some nutrition checklists used in Korea for the elderly are from other countries. Reliability of those checklist in Korea is not studied enough. This survey was done for the elderly over 65-years-old who live in Hongcheon, An-dong, Dam-yang and Yeon-gi in Korea (subject; summer: 146, winter: 145) to study the reliability of DETERMINE checklist which is adopted widely in Korea. Using the score of DETERMINE checklist, the elderly were divided as high, middle and low risk groups. For nutritional assessment for those elderly, dietary assessment using 24 recall, anthropometry, biochemical assessment and health condition were used. Results for the checklist showed that percentage below EAR for energy intake and protein intake in winter were higher in the high risk group than other groups. The intakes of phosphorus and iron and most vitamins were below the DRI. The percentage of subjects with intake below DRI was highest in the high risk group. Sensitivity, specificity, and positive predictive values using the DETERMINE were calculated using 6 point as a cut-off point. Subjects were divided into two groups by MAR (MAR< 0.75:undernutrition, MAR< 0.75 : normal). Sensitivity recorded 49.4% and 34.3%, specificity did 61.9% and 65.4 and Positive predictive value did 62.1% and 46.0% each for summer and winter. Results of screening using DETERMINE Checklist were not matched with dietary assessment but not with anthropometric and biochemical measurement. In conclusion DETERMINE 'Checklist' is shown be a good screening tool for finding out risk groups for dietary intake in the elderly, It needs to verify reliability and validity through large-scale survey.
Aged ; Anthropometry ; Checklist ; Ear ; Energy Intake ; Humans ; Iron ; Korea ; Mass Screening ; Nutrition Assessment ; Nutritional Status ; Phosphorus ; Reproducibility of Results ; Seasons ; Sensitivity and Specificity ; Vitamins

To investigate the risk factors and clinical characteristics of postrenal transplant diabetes mellitus (PTDM), we reviewed the records of 177 renal allograft recipients in Maryknoll Hospiatal whose allografts had functioned longer than 6 months. Nineteen patients (10.7%) developed PTDM at 5.0+/-7.8 (1-52) months; 9 (47%) of these within 1 month. PTDM patients were older than nondiabetic renal transplants (42+/-2 vs 37+/-1 years, P<0.05). Body mass index tended to be higher in PTDM (23.5+/-1.0 vs 21.8+/-0.3kg/m2, P=0.09). Number of acute rejections (0.6+/-0.2 vs 0.5+/-0.1) and serum creatinine at 1 year after transplantation (1.2+/-0.8 vs 1.3+/-0.3mg/dL) were not different. Fasting (103.6+/-10.4 vs 84.4+/-1.6mg/dL, P<0.05) and postprandial (189.2+/-24.8 vs 118.6+/-2.3 mg/dL, P<0.01) blood sugars, measured before transplantation, were higher in PTDM. CsA blood level at 1 month posttransplantation was higher in PTDM (350+/-34 vs 279+/-8ng/mL, P<0.05). Fasting serum insulin was significantly higher (28.2+/-12.2 vs 7.3+/-2.0 microunit/dL, P<0.05) and serum C-peptide tended to be higher in PTDM patients compared with euglycemic renal recipients (6.3+/-1.6 vs 3.8+/-0.9ng/dL, P=0.08). All the PTDM patients were treated by either insulin or oral agent; 15 of 19 required no treatment after 4.7+/-6.9 months. In conclusion, prevalence of PTDM was 10.7%. PTDM patients were older. Body mass index was tended to be higher. Fasting and postprandial blood sugars, measured before transplantation, were higher in PTDM. Faslting serum insulin was higher and C-peptide tended to be higher in diabetics. These results suggested that increased insulin resistance plays a major role in the pathogenesis of PTDM.
Allografts ; Blood Glucose ; Body Mass Index ; C-Peptide ; Creatinine ; Cyclosporine ; Diabetes Mellitus* ; Fasting ; Humans ; Insulin ; Insulin Resistance ; Prevalence ; Risk Factors*

Histiocytosis-X is a term used to define three diseases with similar morphologic characteristics : Letterer-Siwe diseae, Hand-Schuller-Christian disease and Eosinophilic granuloma. In general, they differ in terms of their age of onset, severity of clinical course and site of involvement. Eosinophilic granuloma typically is seen in young adults. Eosinophilic granuloma is diagnosed in the presense of diffuse pulmonary infiltrate, bony involvement. However, the Pulmonary radiologic findings of eosinophilic granuloma are variable accordinary to stage of disease. therefore pathologic diagnosis of involving site is essential for confirmative diagnosis of eosinophilic grananuloma. Pathologically. the three disease are characterized by granulomatous infiltration of alveolar septa and bronchial walls and often involvement of bone. The hallmark of this disease is proliferation of the Langerhans' cell. The identifying feature is the X-body or Birbeck granule that is present in Langerhans' cells and histiocytic cells found in the lung of EG patient. We report a case of bilateral, recurrent and spontaneous pneumothoraces in a 21 year old man with pulmonary histiocytosis-X which is confined by eosinophilc granuloma in bone marrow biopsy and ultrastructural examination in cells obtained from BAL.
Age of Onset ; Biopsy ; Bone Marrow ; Diagnosis ; Eosinophilic Granuloma ; Eosinophils ; Granuloma ; Histiocytosis, Langerhans-Cell* ; Humans ; Lung ; Pneumothorax* ; Young Adult

The prevalence rate of metabolic syndrome has increased rapidly among the middle-aged and seems to be affected by socioeconomic factors, lifestyles and dietary habits. This research tries to find out the difference in dietary intake between middle-aged with and without metabolic syndrome. Using Korean National Health and Nutrition Survey (KNHANES) in 2005 and 2007, this study investigated 2,382 people (normal: 1,575, disease: 807) in 2005 and 1152 people (normal: 747, disease: 405) in 2007 (between the age of 40 and 64). Analysis was performed to discover the difference in nutrient intakes between people with and without metabolic syndrome. Also differences among people with various socioeconomic factors (such as age, education level, and income level), which can affect nutrient intake, were analyzed. In the nutrient intake people with metabolic syndrome has lower intake in most of nutrients than those of normal group, except carbohydrate. In 2007, normal group had higher intake in most nutrients, except for carbohydrate, sodium, potassium and vitamin A. Carbohydrate: protein: fat (C: P: F) ratio for syndrome group showed higher rate for carbohydrate, than normal group, in 2005, and 2007. Overall, the higher age and income level, the more carbohydrate intake rate is increase in syndrome group. The Quality of each nutrient intake was assessed using NAR (Nutrient adequacy ratio) and MAR (Mean adequacy ratio). According to the MAR, there was significant difference in 2005, 0.83 for normal group and 0.81 for syndrome group but there wasn't any in 2007 (0.81 for normal group, 0.82 for syndrome group). By NAR, in 2005, all nutrient except phosphorus, iron, vitamin A for Normal group higher then those of syndrome group (p < 0.05). In 2007 intake of syndrome group were higher then those normal group in most of nutrient by NAR. For age, education and income, MAR for normal group is higher then that of metabolic syndrome. In conclusion, Quality of nutrient intake in normal group is better then in metabolic syndrome group. Therefore, it is necessary to monitor dietary of intake people with metabolic syndrome, and necessary measures should be taken.
Food Habits ; Humans ; Iron ; Life Style ; Middle Aged ; Nutrition Surveys ; Organothiophosphorus Compounds ; Phosphorus ; Potassium ; Prevalence ; Socioeconomic Factors ; Sodium ; Vitamin A

Patient survival is one of the most important measures for the evaluation of progress in cancer patient care across the wide spectrum from diagnosis to treatment. The optimal monitoring method for cancer patient survival is to estimate survival based on representative data from cancer patients in the population, which is only achievable through using population-based cancer registration data. Relative survival is used to compare the survival experience in a study cohort that expected to result from background population mortality rates. This technique is useful when the cause of death is not accurate or not available, since it provides a measure of excess mortality in a group of patients with a certain disease. The purpose of this article is to demonstrate the procedures for estimating relative survival using the statistical software Stata. For this survival analysis to show the procedure, the example data set was randomly selected from the National Cancer Incidence Database, which was used in a recent article reporting the overall relative survival of cancer patients diagnosed during 1993-2002 in Korea.
Cause of Death ; Cohort Studies ; Dataset ; Diagnosis ; Humans ; Incidence ; Korea ; Mortality ; Patient Care ; Survival Analysis*

Loeys-Dietz syndrome is a hereditary connective-tissue disorder first reported in 2005. It is caused by genetic defects in the transforming growth factor-beta (TGF-β) signaling pathway. TGF-β signaling plays an important role in connective-tissue development, differentiation, and homeostasis. Dysregulation of TGF-β signaling causes various defects in the skull, face, skeletal system, skin, and blood vessels. Symptoms of Loeys-Dietz syndrome include scoliosis, spider finger, joint laxity, club foot, hypertelorism, and cleft palate. In addition, aortic aneurysm, aortic dissection, bleeding tendency, delayed wound healing, allergic disease, and autoimmune disease have been reported. Here, we describe an 11-year-old male with type 1 diabetes mellitus who had frequent epistaxis and easy bruising from an early age, along with skin and joint hyperextension, atrophic scars, and long limbs. He was suspected of having a hereditary connective-tissue disorder and was diagnosed with Loeys-Dietz syndrome type 1 by next-generation sequencing. Similar to Marfan syndrome and Ehlers-Danlos syndrome, this disease has a high risk of aortic aneurysm and aortic dissection. In addition, because aortic dissection can occur at a young age, early diagnosis and periodic examination and treatment for cardiovascular diseases are necessary.

Most influenza vaccines currently in use target the highly variable hemagglutinin protein to induce neutralizing antibodies and therefore require yearly reformulation. T cell-based universal influenza vaccines focus on eliciting broadly cross-reactive T-cell responses, especially the tissue-resident memory T cell (TRM ) population in the respiratory tract, providing superior protection to circulating memory T cells. This study demonstrated that intramuscular (i.m.) administration of the adenovirus-based vaccine expressing influenza virus nucleoprotein (rAd/NP) elicited weak CD8 TRM responses in the lungs and airways, and yielded poor protection against lethal influenza virus challenge. However, a novel “prime-and-deploy” strategy that combines i.m. vaccination of rAd/NP with subsequent intranasal administration of an empty adenovector induced strong NP-specific CD8+ TRM cells and provided complete protection against influenza virus challenge. Overall, our results demonstrate that this “prime-and-deploy” vaccination strategy is potentially applicable to the development of universal influenza vaccines.

PURPOSE: South Korea has the highest incidence rate of thyroid cancer in the world, and the incidence rate continues to increase. The aim of this study was to determine the age-period-cohort effects on the incidence of thyroid cancer in Korea. MATERIALS AND METHODS: Using the Korean National Cancer registry database, age-standardized incidence rates and annual percent changes (APCs) in thyroid cancer according to sex and histologic type were analyzed between 1997 and 2011. Age-period-cohort models were applied using an intrinsic estimator method according to sex. RESULTS: In both men and women, the incidence of thyroid cancer showed a sharp increase from 1997 through 2011. Among the histologic types, papillary carcinoma showed the greatest increase, with APCs of 25.1% (95% confidence interval [CI], 22.7% to 27.5%) in men and 23.7% (95% CI, 21.9% to 25.5%) in women, whereas anaplastic carcinoma did not show a significant increase in either sex. An increase in overall thyroid cancer incidence over time was observed in all birth cohorts. An age-period-cohort model indicated a steeply increasing period effect, which increased prominently from 1997 to 2011 in both men and women. The age effect showed an inverted U-shaped trend. The cohort effect tended to show a slight increase or remain constant from 1952 to 1977, followed by a decrease. CONCLUSION: The period effect can explain the sharp increase in thyroid cancer incidence, strongly suggesting the role of thyroid screening.
Carcinoma ; Carcinoma, Papillary ; Cohort Effect ; Cohort Studies ; Female ; Humans ; Incidence* ; Korea ; Male ; Mass Screening ; Parturition ; Thyroid Gland ; Thyroid Neoplasms*