No abstract available.
Candidiasis* ; Humans ; Infant, Newborn ; Infant, Premature*

Recently, next generation sequencing (NGS) has received attention as the ultimate genotyping method to overcome the limitations of capillary electrophoresis (CE)-based short tandem repeat (STR) analysis, such as the limited number of STR loci that can be measured simultaneously using fluorescent-labeled primers and the maximum size of STR amplicons. In this study, we analyzed 15 autosomal STR markers via the NGS method and evaluated their effectiveness in STR analysis. Using male and female standard DNA as single-sources and their 1:1 mixture, we sequentially generated sample amplicons by the multiplex polymerase chain reaction (PCR) method, constructed DNA libraries by ligation of adapters with a multiplex identifier (MID), and sequenced DNA using the Roche GS Junior Platform. Sequencing data for each sample were analyzed via alignment with pre-built reference sequences. Most STR alleles could be determined by applying a coverage threshold of 20% for the two single-sources and 10% for the 1:1 mixture. The structure of the STR in each allele was accurately determined by examining the sequences of the target STR region. The mixture ratio of the mixed sample was estimated by analyzing the coverage ratios between assigned alleles at each locus and the reference/variant ratios from the observed sequence variations. In conclusion, the experimental method used in this study allowed the successful generation of NGS data. In addition, the NGS data analysis protocol enables accurate STR allele call and repeat structure determination at each locus. Therefore, this approach using the NGS system will be helpful to interpret and analysis the STR profiles from singe-source and even mixed samples in forensic investigation.
Alleles ; DNA ; Electrophoresis, Capillary ; Female ; Gene Library ; Humans ; Ligation ; Male ; Microsatellite Repeats ; Multiplex Polymerase Chain Reaction ; Statistics as Topic

It has been known that childhood bipolar disorder is rare, especially combined with attention deficit hyperactivity disorder (ADHD). But, recent studies reported that childhood bipolar is more common than our guess. Many symptoms of childhood mania overlapped with ADHD, so it is difficult to differentiate from ADHD. It also often reported that psychostimulants, medication for ADHD, induce manic symptoms. Clinically, childhood mania has several characteristics. It is frequently chronic, mixed type, rapid cycling and often refractory to treatment. So it is important to diagnose, differentiate, treat childhood bipolar disorder and ADHD, but there is no report about comorbidity, treatment, clinical characteristics about that. We report a patient combined ADHD, mental retardation and childhood bipolar disorder.
Attention Deficit Disorder with Hyperactivity* ; Bipolar Disorder* ; Child* ; Comorbidity ; Humans ; Intellectual Disability*

BACKGROUND: Aging can serve as an underlying mechanism of chronic obstructive pulmonary disease (COPD). Also, smoking, which is the most common cause of COPD, is responsible for the systemic manifestations of the disease, independently from the lung function alterations. The purpose of this study was to analyze the effect of aging on the occurrence of cigarette smoking induced COPD. METHODS: For this analysis, we evaluated smoking status by a lifestyle intervention program and measured the occurrence of COPD by the Korea National Health and Nutrition Examination Survey (KNHANES) from 2005 to 2015. RESULTS: Aging and smoking were significantly effected on the lung function of COPD patients. Especially, the smoking duration is exaggerated in the presence of old age for older COPD patients. CONCLUSION The result showed that COPD patients exhibit aging and smoking duration related severity. The prevalence of COPD kept increasing internationally. Knowing the risk factor of COPD quantitatively and finding out the interaction among risk factors could be valuable predictors for preventing COPD.

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Intraductal variant of peripheral cholangiocarcinoma is extremely rare. This variant shows intraductal growth and intraluminal extension without any infiltrative growth. The mode of intraductal growth is not known. The prognosis of this variant is better than that of usual cholangiocarcinoma. We report three cases, one of which is associated with Clonorchis sinensis (CS) infection. The tumors were entirely confined within the dilated peripheral tributaries of the intrahepatic bile duct. Microscopically, the tumors were well to moderately well differentiated, with a papillary or a micropapillary growth pattern. Focal clear cytoplasmic change and mucin production were noted. The tumors showed intraductal spreading without any invasion to the liver parenchyme. Mucosal hyperplasia and dysplasia were noted in the adjacent ducts. The authors assume that intraductal cholangiocarcinoma is a distinct subtype, and persistent irritation, such as, CS infection may undergo a malignant transformation through mucosal dysplasia.
Bile Ducts, Intrahepatic ; Cholangiocarcinoma* ; Clonorchis sinensis ; Cytoplasm ; Hyperplasia ; Liver* ; Mucins ; Prognosis

No abstract available.

An ossifying fibromyxoid tumor of soft parts is a rare, recently described, fibro-osseous neoplasm of uncertain histogenesis. It occurs most frequently within the subcutis or skeletal muscle of the extremities. Its biologic behavior is generally regarded as benign with at worst a locally aggressive clinical course. But, atypical and malignant variants have been recently reported. Herein we report a case of a benign ossifying fibromyxoid tumor which occurred in the left upper back of 41-year-old man. The tumor is composed of uniformly round or polygonal cells arranged in cords or nests which are separated by myxoid and hyalinzed fibrous matrix and associated with irregular bony trabeculae. The tumor cells are strong positive for vimentin. Ultrastructural findings and a review of literatures are added.
Adult ; Extremities ; Humans ; Muscle, Skeletal ; Vimentin

An ossifying fibromyxoid tumor of soft parts is a rare, recently described, fibro-osseous neoplasm of uncertain histogenesis. It occurs most frequently within the subcutis or skeletal muscle of the extremities. Its biologic behavior is generally regarded as benign with at worst a locally aggressive clinical course. But, atypical and malignant variants have been recently reported. Herein we report a case of a benign ossifying fibromyxoid tumor which occurred in the left upper back of 41-year-old man. The tumor is composed of uniformly round or polygonal cells arranged in cords or nests which are separated by myxoid and hyalinzed fibrous matrix and associated with irregular bony trabeculae. The tumor cells are strong positive for vimentin. Ultrastructural findings and a review of literatures are added.
Adult ; Extremities ; Humans ; Muscle, Skeletal ; Vimentin

No abstract available.
Female ; Humans ; Pregnancy ; Pregnancy Trimester, Second* ; Pregnancy*