Fibrofolliculoma is a benign follicular neoplasm which usually occurs in multiple and rarely solitarily. We have found only seven cases of previous reports of solitary fibrofolliculomas worldwide and only two in Korean literature. Herein we report on a 40-year-old female patient with a solitary flesh-colored bean sized mass on the scalp which histopathologically proved to be a fibrofolliculoma.
Adult ; Female ; Humans ; Scalp

Sequencing depth, which is directly related to the cost and time required for the generation, processing, and maintenance of next-generation sequencing data, is an important factor in the practical utilization of such data in clinical fields. Unfortunately, identifying an exome sequencing depth adequate for clinical use is a challenge that has not been addressed extensively. Here, we investigate the effect of exome sequencing depth on the discovery of sequence variants for clinical use. Toward this, we sequenced ten germ-line blood samples from breast cancer patients on the Illumina platform GAII(x) at a high depth of ~200x. We observed that most function-related diverse variants in the human exonic regions could be detected at a sequencing depth of 120x. Furthermore, investigation using a diagnostic gene set showed that the number of clinical variants identified using exome sequencing reached a plateau at an average sequencing depth of about 120x. Moreover, the phenomena were consistent across the breast cancer samples.
Breast Neoplasms ; Exome* ; Exons ; Genetic Variation ; Humans

Colorectal varix (CRV) is a rare cause of lower gastrointestinal bleeding and usually associated with portal hypertension from liver cirrhosis or portal venous obstruction. Idiopathic CRV have no identifiable underlying cause and can only be diagnosed after the cause of portal or mesenteric vein circulation have been excluded. We report a case of idioipathic CRV presented with rectal bleeding for a week. Colonoscopy revealed markedly dilatated tortuous, and bluish veins in the rectum as well as coexistent adenomatous polyp and internal hemorrhoid. Despite extensive investigation, there was no evidence of portal hypertension or any other cause. Family history was also negative. Although blood transfusions were required, the patient remained asymptomatic without further rectal bleeding.
Adenomatous Polyps ; Blood Transfusion ; Colonoscopy ; Hemorrhage ; Hemorrhoids ; Humans ; Hypertension, Portal ; Liver Cirrhosis ; Mesenteric Veins ; Rectum ; Varicose Veins* ; Veins

Critical ill patients with pandemic 2009 H1N1 influenza A are associated with mortality, including cardiovascular, respiratory and renal dysfunction. Understanding of risk factor and clinical manifestation that suggest a higher mortality can recognize high risk patients earlier. There are many reports for severe acute respiratory distress syndrome, multiple organ failure and renal failure with pandemic 2009 H1N1 influenza A. But cardiovascular disease with pandemic 2009 H1N1 influenza A remains unknown. This is the report of pandemic 2009 H1N1 influenza A association with apical balloning syndrome.
Cardiovascular Diseases ; Humans ; Influenza, Human ; Multiple Organ Failure ; Pandemics ; Renal Insufficiency ; Respiratory Distress Syndrome, Adult ; Risk Factors ; Takotsubo Cardiomyopathy

D2GSNP is a web-based server for the selection of single nucleotide polymorph isms (SNPs) within genes related to human diseases. The D2GSNP is based on a relational database created by downloading and parsing OMIM, GAD, and dbSNP, and merging it with positional information of UCSC Golden Path. Totally our server provides 5,142 and 1,932 non-redundant disease genes from OMIM and GAD, respectively. With the D2GSNP web interface, users can select SNPs within genes responding to certain diseases and get their flanking sequences for further genotyping experiments such as association studies.
Databases, Genetic ; Humans* ; Polymorphism, Single Nucleotide*

The receptor for advanced glycation end products (RAGE) has been reported to have a pivotal role in the pathogenesis of Alzheimer's disease (AD). This study investigated RAGE levels in the hippocampus and cortex of a triple transgenic mouse model of AD (3xTg-AD) using western blotting and immunohistochemical double-labeling to assess cellular localization. Analysis of western blots showed that there were no differences in the hippocampal and cortical RAGE levels in 10-month-old adult 3xTg-AD mice, but significant increases in RAGE expression were found in the 22- to 24-month-old aged 3xTg-AD mice compared with those of age-matched controls. RAGE-positive immunoreactivity was observed primarily in neurons of aged 3xTg-AD mice with very little labeling in non-neuronal cells, with the notable exception of RAGE presence in astrocytes in the hippocampal area CA1. In addition, RAGE signals were co-localized with the intracellular amyloid precursor protein (APP)/amyloid beta (Abeta) but not with the extracellular APP/Abeta. In aged 3xTg-AD mice, expression of human tau was observed in the hippocampal area CA1 and co-localized with RAGE signals. The increased presence of RAGE in the 3xTg-AD animal model showing critical aspects of AD neuropathology indicates that RAGE may contribute to cellular dysfunction in the AD brain.
Advanced Glycosylation End Product-Specific Receptor ; Alzheimer Disease/genetics/*metabolism ; Amyloid beta-Peptides/metabolism ; Animals ; Astrocytes/*metabolism ; CA1 Region, Hippocampal/growth & development/metabolism/pathology ; Humans ; Mice ; Mice, Transgenic ; Neurons/*metabolism ; Receptors, Immunologic/genetics/*metabolism ; tau Proteins/genetics/metabolism

An increasing number of primate genomes are being sequenced. A direct comparison of repeat elements in human genes and their corresponding chimpanzee orthologs will not only give information on their evolution, but also shed light on the major evolutionary events that shaped our species. We have developed REPEATOME to enable visualization and subsequent comparisons of human and chimpanzee repeat elements. REPEATOME (http://www.repeatome.org/) provides easy access to a complete repeat element map of the human genome, as well as repeat element-associated information. It provides a convenient and effective way to access the repeat elements within or spanning the functional regions in human and chimpanzee genome sequences. REPEATOME includes information to compare repeat elements and gene structures of human genes and their counterparts in chimpanzee. This database can be accessed using comparative search options such as intersection, union, and difference to find lineage-specific or common repeat elements. REPEATOME allows researchers to perform visualization and comparative analysis of repeat elements in human and chimpanzee.
Genome ; Genome, Human ; Humans* ; Pan troglodytes* ; Primates

Objectives: . Endoscopic tympanoplasty (ET) provides minimally invasive transcanal access to the middle ear and improves middle ear visibility for the treatment of tympanic membrane (TM) perforations. However, the literature on surgical outcomes for large TM perforations is lacking and limited to small series. This study aimed to evaluate the clinical benefits of ET for large TM perforations. Methods: . This retrospective cohort study was conducted at nine tertiary referral hospitals in South Korea, where 252 patients who underwent ET as primary surgery from September 2019 to August 2021 were included. The outcome measures included the graft success rate and pre- and postoperative audiometric data. Results: . In 239 patients, the graft success rate of ET for large or subtotal perforations was 86.2% (206 patients), while the graft failure rate was 13.8% (33 patients). The graft failure rate was directly correlated with surgical techniques, including overlay and medial or lateral underlay tympanoplasty (P=0.027). Lateral underlay tympanoplasty showed the most favorable results. Sex, laterality, etiology, site and size of perforation, operation time, and graft materials did not vary significantly between the graft success and failure groups (P>0.05). The mean air-bone gap (ABG) improved significantly in both groups (graft success group: 10.0±0.6 dB and graft failure group: 7.7±0.3 dB; P<0.001). However, the ABG improvement did not significantly differ between the groups. Analysis of covariance revealed that the postoperative 500-Hz bone conduction threshold improved after successful ET (adjusted coefficient, –11.351; 95% confidence interval, –21.491 to –1.212; P=0.028). Conclusion . This study involved the largest population to date of large TM perforations treated by ET. The study findings suggest that ET is feasible and effective in treating large TM perforations.

Foreign bodies in the stomach and duodenum are usually accidentally swallowed by children, mentally ill patients, alcoholics, or persons with dentures. Swallowed foreign bodies are usually asymptomatic, and moved down the alimentary tract to be passed spontaneously without discomfort. There had been reported many kinds of foreign bodies, for example, metal fragments, fish bones and so on. A metal thread, which looks like a fishing hook in gastrointestinal tract as a foreign body, has never been reported in humans. A 62-year-old male patient was admitted due to abdominal discomfort for five days after eating raw fish. We performed gastroduodenoscopy and could find a thread penetrating to the anterior wall of duodenal bulb. It was removed by biopsy forcep. Herein, we report a case of a metal thread in duodenal bulb, which looked like a fishing hook.
Alcoholics ; Biopsy ; Child ; Dentures ; Duodenum ; Eating* ; Foreign Bodies ; Gastrointestinal Tract ; Humans ; Male ; Mentally Ill Persons ; Middle Aged ; Stomach ; Surgical Instruments

PURPOSE: To improve the quality of the statistical analysis of papers published in the Journal of the Korean Society for Therapeutic Radiology and Oncology (JKOSTRO) by evaluating commonly encountered errors. MATERIALS AND METHODS: Papers published in the JKOSTRO from January 2006 to December 2007 were reviewed for methodological and statistical validity using a modified version of Ahn's checklist. A statistician reviewed individual papers and evaluated the list items in the checklist for each paper. To avoid the potential assessment error by the statistician who lacks expertise in the field of radiation oncology; the editorial board of the JKOSTRO reviewed each checklist for individual articles. A frequency analysis of the list items was performed using SAS (version 9.0, SAS Institute, NC, USA) software. RESULTS: A total of 73 papers including 5 case reports and 68 original articles were reviewed. Inferential statistics was used in 46 papers. The most commonly adopted statistical methodology was a survival analysis (58.7%). Only 19% of papers were free of statistical errors. Errors of omission were encountered in 34 (50.0%) papers. Errors of commission were encountered in 35 (51.5%) papers. Twenty-one papers (30.9%) had both errors of omission and commission. CONCLUSION: A variety of statistical errors were encountered in papers published in the JKOSTRO. The current study suggests that a more thorough review of the statistical analysis is needed for manuscripts submitted in the JKOSTRO.