CT and MRI Findings of Small Bowel Involvement of Amyloidosis Mimicking Small Bowel Polyposis Syndrome: a Case Report

Amyloidosis is an all-inclusive disease of deposition of amyloid proteins in the extracellular spaces, which in localized or systemic form cause tissue damage and dysfunction. Herein, we report a case of small bowel involvement of systemic amyloidosis presenting with multiple polypoid wall thickening mimicking small bowel polyposis syndrome in an age 75 male. Interestingly, polypoid wall thickening and amyloidoma showed hypointensity on T2-weighted images. To our knowledge, there has been no literature describing MRI findings of poylpoid wall thickening and amyloidoma. Although the underlying mechanisms are unclear and need validation, hypointensity on T2-weighted images could be valuable in diagnosing small bowel involvement of amyloidosis in patients presenting with poylpoid wall thickening and amyloidoma.

Malignant Gastric Paraganglioma with Liver Metastasis: Imaging Findings and Literature Review

Paraganglioma is a neuroendocrine tumor that grows in organs other than the adrenal gland and typically originates in the chromaffin cells, which are distributed along the regions of the sympathetic and parasympathetic branches of the nervous system in the entire body. Abdominal paraganglioma mainly arises in the retroperitoneum, which lines the sympathetic nerve branches; it rarely arises in other anatomical structures. In only a few cases reported in the literature, paraganglioma originated from the stomach. According to the current and previous case reports, gastric paraganglioma seems to be a hypervascular tumor growing around the stomach; it can be easily contrast-enhanced and may be accompanied by distant metastases.

Rectal Ulcer Developed in Systemic Lupus Erythematosus without Ischemic Colitis / 대한소화기학회지

Rectal involvement by systemic lupus erythematosus (SLE) is quite rare. Approximately 14 cases have been reported worldwide, but only one with ischemic colitis has been reported in Korea. A 17-year-old female patient was hospitalized with abdominal pain and hematochezia. Sigmoidoscopy revealed only a simple rectal ulcer without ischemic colitis. cytomegalovirus and bacterial infections were excluded. A sigmoidoscopic rectal biopsy indicated a rectal invasion by SLE, but the patient showed an acute worsening conditions that did not respond to treatment. This paper reports a case of rectal ulcer that developed in SLE without ischemic colitis with a review of the relevant literature.

Rectal Ulcer Developed in Systemic Lupus Erythematosus without Ischemic Colitis / 대한소화기학회지

Rectal involvement by systemic lupus erythematosus (SLE) is quite rare. Approximately 14 cases have been reported worldwide, but only one with ischemic colitis has been reported in Korea. A 17-year-old female patient was hospitalized with abdominal pain and hematochezia. Sigmoidoscopy revealed only a simple rectal ulcer without ischemic colitis. cytomegalovirus and bacterial infections were excluded. A sigmoidoscopic rectal biopsy indicated a rectal invasion by SLE, but the patient showed an acute worsening conditions that did not respond to treatment. This paper reports a case of rectal ulcer that developed in SLE without ischemic colitis with a review of the relevant literature.

Genetic Association for P2X7R rs3751142 and CARD8 rs2043211 Polymorphisms for Susceptibility of Gout in Korean Men: Multi-Center Study

The aim of this study was to determine the association between P2X7R rs3751142 and CARD8 rs2043211 polymorphisms and gout susceptibility in male Korean subjects. This study enrolled a total of 242 male patients with gout and 280 healthy controls. The polymorphisms of two individual genes including rs3751142(C>A) in the P2X7R gene and rs2043211(A>T) in the CARD8 gene were assessed using Taq-Man analysis. Statistical analyses were performed using the Chi-square test, Kruskal-Wallis test, and logistic regression analyses. A difference in genotypic frequency of the P2X7R rs3751142 and CARD8 rs2043211 genes was not detected between gout and control patients. Clinical parameters including age, onset age, disease duration, body mass index, and serum uric acid levels were not different among the three genotypes for either P2X7R or CARD8 (P > 0.05 for all). A pair-wise comparison of P2X7R rs3751142 and CARD8 rs2043211 genotype combinations revealed that subjects with the CA P2X7R rs3751142 genotype and the TT CARD8 rs2043211 genotype had a trend toward a higher risk of gout compared to the CC/AA combination (P = 0.056, OR = 2.618, 95% CI 0.975 - 7.031). In conclusion, this study revealed that genetic variability of the P2X7R rs3751142 and CARD8 rs2043211 genes might, in part, be associated with susceptibility for gout.

A Case of Primary Signet Ring Cell Carcinoma of the Lower Eyelid

PURPOSE: To report a rare case of a painless mass on the lower lid, histologically diagnosed as primary signet ring cell carcinoma of the eyelid. CASE SUMMARY: A 74-year-old male presented with a painless mass on the right lower lid which had developed seven months prior to presentation. Incisional biopsy of the mass and attached lower lid skin was performed, revealing signet ring cell carcinoma. A systemic evaluation, including whole body positron emission tomography-computed tomography (PET-CT), chest CT, abdomen and pelvis CT, gastrointestinal endoscopy, and colonoscopy, revealed no other abnormal lesions. Therefore, the eyelid lesion was considered primary signet ring cell carcinoma of the skin and was treated with radiotherapy of 6600 cGy in 33 fractions over 7 weeks. CONCLUSIONS: Herein, the authors report a rare case of primary signet ring cell carcinoma of the eyelid with no evidence of tumor recurrence or metastasis for 5 years after radiotherapy.

Regional Differences in Chronic Stress-induced Alterations in Mast Cell and Protease-activated Receptor-2-positive Cell Numbers in the Colon of Ws/Ws Rats

BACKGROUND/AIMS: There have been no reports on the effect of chronic psychological stress on colonic immune cells or the regional differences. We aimed to investigate the effect of chronic psychological stress on the number of mast cells and protease-activated receptor (PAR)-2-positive cells in the rat colonic mucosa. METHODS: Six-week-old and 14-week-old Ws/Ws rats, which lack mast cells after 10 weeks, were used as control and mast cell-deficient groups, respectively. The rats were divided into stress and sham-treated groups. Rats in the stressed group were exposed to water avoidance stress (WAS, 1 hour/day) for 13 days. Fecal pellet output and the number of mast cells and PAR-2-positive cells in colonic mucosa were compared between the WAS and sham groups. RESULTS: In 6-week-old rats, the WAS group showed a significantly higher number of mast cells compared to the sham group. In 14-week-old rats, mast cells were nearly absent in the colonic mucosa. WAS significantly increased PAR-2-positive cells in 14-week-old rats, but not in 6-week-old rats. Indirect estimation of PAR-2-positive mast cells in 6-week-old rats suggested that the majority of increased mast cells following WAS did not express PAR-2. WAS increased mast cells and PAR-2-positive cells mainly in the proximal colon. Fecal pellet output was continuously higher in the WAS group than in the sham group, and the difference was significant for both 6-week-old and 14-week-old rats. CONCLUSIONS: Chronic psychological stress increased the number of mast cells and PAR-2-positive cells in rat colonic mucosa, and these increases were more prominent in the proximal colon.

Identifying Polymorphisms in IL-31 and Their Association with Susceptibility to Asthma

BACKGROUND: Interleukin 31 (IL-31) is a T helper type 2 effector cytokine that plays an important role in the pathogenesis of atopic and allergic diseases. IL-31 may be involved in promoting allergic inflammation and in inducing airway epithelial responses such as allergic asthma. METHODS: Single-base extension analysis was used to detect the genotypes of IL-31 single nucleotide polymorphisms (SNPs), and we compared the genotype and allele frequencies of the IL-31 SNPs between patients with asthma and healthy controls. RESULTS: There were no significant differences in the genotype and allele frequencies of the IL-31 SNPs between patients with asthma and healthy controls. Furthermore we compared the genotype and allele frequencies of IL-31 SNPs between patients with atopic asthma, those with non-atopic asthma and healthy controls. This showed that the SNPs were not associated with the susceptibility to atopic asthma. There were no significant differences in the haplotype frequencies of IL-31 SNPs between patients with asthma and healthy controls. In patients with asthma, the IL-31 SNPs were significantly correlated with total serum levels of IgE (p=0.035). CONCLUSIONS: Our results indicate that, the IL-31 SNPs may be associated with IgE production in patients with asthma.

Laparoscopic Treatment of Adult Sigmoidorectal Intussusception Caused by a Mucinous Adenocarcinoma of the Sigmoid Colon: A Case Report

Intussusception is a rare cause of intestinal obstruction in adult patients, but is common in children. In fact, it accounts for an estimated 1% of all cases of bowel obstruction in adults, although adult intussusception of the large intestine is rare. Sigmoidorectal intussusception, however, is a rare variety with few cases reported in the literature. A mucinous adenocarcinoma, a subtype of adenocarcinoma, is characterized by extracellular mucin production and accounts for between 5% and 15% of the neoplasms of the colon and rectum. Despite the general consensus supporting surgical resections for adult intussuceptions, controversy remains over whether intussuceptions should be reduced before resection. Most cases of colon intussusception should not be reduced before resection because they most likely represent a primary adenocarcinoma. However, prior reduction followed by a resection can be considered for the sigmoidorectal intussusception to avoid inadvertent low rectal cancer sugery. We experienced one case of sigmoidorectal intussusception caused by a mucinous adenocarcinoma of the sigmoid colon in a 79-year-old woman. Abdominal computed tomography demonstrated a sigmoidorectal intussusception. After the end-to-end anastomosis-dilator-assisted reduction, the patient underwent a laparoscopic oncological anterior resection under the impression that a sigmoidorectal intussusception existed. We report a successful laparoscopic anterior resection in a patient with an intussusception caused by a sigmoid malignant tumor.

A Case of Angiosarcoma in Rectum

Angiosarcoma is a malignant vascular neoplasm that usually involves the skin or soft tissues. A primary rectal angiosarcoma is exceedingly rare. A 77-year-old female was admitted to the hospital for evaluation of constipation and hematochezia. The patient had a history of uterine cervix carcinoma which was treated with surgery and radiation therapy. A colonoscopy revealed a friable, ulceroinfiltrative tumor with multiple hyperemic mucosae in the rectum. Microscopically, the tumor exhibited vasoformative growth with nuclear atypism and numerous mitoses. The tumor cells were strongly positive for CD31, CD34, and Factor VIII. We report a case of rectal angiosarcoma that developed after radiation therapy.

A Case of Angiosarcoma in Rectum

Angiosarcoma is a malignant vascular neoplasm that usually involves the skin or soft tissues. A primary rectal angiosarcoma is exceedingly rare. A 77-year-old female was admitted to the hospital for evaluation of constipation and hematochezia. The patient had a history of uterine cervix carcinoma which was treated with surgery and radiation therapy. A colonoscopy revealed a friable, ulceroinfiltrative tumor with multiple hyperemic mucosae in the rectum. Microscopically, the tumor exhibited vasoformative growth with nuclear atypism and numerous mitoses. The tumor cells were strongly positive for CD31, CD34, and Factor VIII. We report a case of rectal angiosarcoma that developed after radiation therapy.

Partial gastric outlet obstruction caused by a huge submucosal tumor originating in the heterotopic pancreas

A 21-year-old woman presented gastrointestinal manifestation showing intermittent abdominal pain, nausea, and vomiting. An upper endoscopic examination showed round, elevated mucosa at the antrum of the stomach anterior wall. After CT scanning, a huge degenerated gastrointestinal stromal tumor was suspected. Subtotal gastrectomy with Billroth II anastomosis was performed. Histologically, pseudocystic degeneration of the heterotopic pancreas was confirmed. The patient showed eventful postoperative course except temporary dilated gastric emptying. The patient is doing well without any abnormal symptom at 8-month follow-up. This report is a rare case of gastric outlet obstruction caused by a pseudocyst originating from a heterotopic pancreas in the gastric antrum.

Identification of the polymorphisms in IFITM3 gene and their association in a Korean population with ulcerative colitis

Interferons play critical roles in tumor pathogenesis by controlling apoptosis and through cellular anti-proliferative and differentiation activities. Interferon inducible transmembrane protein (IFITM) family genes have been implicated in several cellular processes such as the homotypic cell adhesion functions of IFN and cellular anti-proliferative activities. Expression levels of IFITM genes have been found to be up-regulated in gastric cancer cells and colorectal tumors. IFITM3 (also known as 1-8U) is a member of the IFITM family, and has been described as a key player in specification of germ cell fate. IFITM3 was first isolated from a genetic screen aimed at identifying genes involved in acquisition of germ cell competence. It has been proposed that epiblast cells have the highest expression of IFITM3 initiated germ cell specification and that homotypic association can discriminate germ cells from their somatic neighbors. In an attempt to better understand the genetic influences of IFITM3 on ulcerative colitis, we have identified possible variation sites and single nucleotide polymorphisms (SNPs) through two exons and their boundary IFITM3 intron sequences including the ~2.1 kb promoter regions. To determine whether or not these IFITM3 SNPs are associated with susceptibility to ulcerative colitis, frequencies of the genotype and allele of IFITM3 polymorphisms were analyzed on genomic DNAs isolated from patients with ulcerative colitis and from healthy controls. We also investigated the haplotype frequencies constructed by these SNPs in both groups. In this study, we also showed that expression level of IFITM3 mRNA was significantly higher in tissues of the ileum and cecum of the digestive system. We identified a total of seven SNPs and multiple variation regions in the IFITM3 gene. The genotype frequency of the g.-204T>G polymorphism in patients with ulcerative colitis was significantly different from that of the control group. Our results strongly suggest that polymorphisms of the IFITM3 gene may be associated with susceptibility to ulcerative colitis.

A Case of Liver Metastasis of Gastrointestinal Stromal Tumor That Was Resected after Treatment with Imatinib Mesylate and Sunitinib

A 65-year old man underwent wedge resection for a gastrointestinal stromal tumor (GIST) of the gastric fundus in 1997. In 2003, the abdominal CT and sono-guided biopsy revealed he had a large GIST liver metastasis. He underwent treatment with 400 mg/day of imatinib mesylate. As a result, the liver metastasis markedly decreased in size. However, focal progression of the liver metastasis was observed on the follow up CT, so we increased the imatinib from 400 mg/day to 800 mg/day. We then performed extended left hepatectomy. We report here on a patient who presented with an isolated metastatic GIST to the liver, and the patient was successfully treated with imatinib therapy and hemihepatectomy.

A Case of Asymptomatic Appendiceal Intussusception by Mucinous Cystadenoma / 대한소화기내시경학회지

Appendiceal intussusception has rarely been reported, and this has an incidence of 0.01% when performing appendectomy. It develops due to anatomical or pathological conditions such as polyps, worms, carcinomas, mucoceles or fecaliths. Patients with appendiceal intussusception present with various clinical symptoms from no symptoms to acute or chronic lower abdominal pain like that in appendicitis. Yet making the accurate preoperative diagnosis is sometimes difficult. Advanced colonoscopy has recently made it possible to arrive at the preoperative diagnosis and colonoscopy provides the optimal management of appendiceal intussusceptions that show various clinical symptoms. We report here on a 62-year-old woman who has no clinical symptoms of appendiceal intussusception, and the patient was preoperatively diagnosed by colonoscopy and managed with laparoscopic partial cecectomy. The final diagnosis was mucinous cystadenoma-induced appendiceal intussusception.

A Case of Primary Mucinous Adenocarcinoma on Skin of The Lateral Canthus

PURPOSE: To report a rare case of primary mucinous adenocarcinoma arising from a sweat gland in the eyelid. CASE SUMMARY: A 68-year-old male presented to our hospital with a painless, superficial nodular lesion over the skin of the right lateral canthus that had slowly grown over the past two years. The patient had a history of surgical excision for three nodular lesions at the same site 5 years ago, and an excisional biopsy was mucinous adenocarcinoma with a positive margin. A systemic evaluation, including whole-body Positron Emission Tomography scan (PET), chest computerized tomography, gastrointestinal endoscopy, and colonoscopy, revealed no other abnormal lesions. Therefore, the eyelid lesion was considered a primary mucinous adenocarcinoma of the skin. CONCLUSIONS: Primary mucinous adenocarcinoma of the eyelid can rarely metastasize. Therefore, a systemic examination is warranted to discriminate primary and metastatic adenocarcinoma and also to monitor the long-term follow-up for the evaluation of local recurrence.

A case of hepatocellular carcinoma invading the gallbladder misdiagnosed as a primary gallbladder carcinoma / 대한간학회지

Extrahepatic metastasis of hepatocellular carcinoma (HCC) is occasionally seen in the lung, bone, adrenal gland, and lymph nodes. It is well known that HCC sometimes invades the biliary system. Since there is no peritoneum between the gallbladder and the liver fossa, a gallbladder cancer easily invades the liver; however, HCC seldom invades the gallbladder because it rarely destroys the muscle layer or the collagen fibers of the gallbladder wall. Routes of gallbladder metastasis of HCC include direct invasion, extension to the biliary system, and invasion of the adjacent hepatic vascular system. Some cases of gallbladder metastasis of HCC without direct invasion have been reported. We report here a case of HCC that directly invaded the gallbladder, and that resembled gallbladder carcinoma invading the liver.

Prevalence and Genotype Distribution of Cervical Human Papillomavirus DNA in Korean Women: A Multicenter Study

Background: DNA prevalence and type distribution of human papillomavirus (HPV) varies geographically. We investigated HPV prevalence and type distribution in Korean women using the MyHPV DNA chip testing. Methods: A total of 2,368 women from five regions of the country underwent Pap smear examination and MyHPV chip testing. Results: Overall HPV positivity was 15.8% and 78.4% in women with normal and abnormal cytology, respectively. High-risk HPV infection was strongly correlated with cytological atypia. In women with abnormal cytology, the five most common HPV types were 16, 58, 18, 52, and 56/53, and HPV16 was significantly the most common type in most geographical regions. After HPV16, HPV58, and 52 were the next most frequently detected types. Women with normal cytology, in contrast, showed heterogeneity in HPV type distribution. High-grade intraepithelial lesions infected with HPV16, 18, 31 or 45 are more likely to progress to carcinoma. Conclusions: The HPV chip test can provide useful data regarding HPV positivity and type. The most common HPV type in Korean women with abnormal cytology is HPV16, with HPV58 and 52 being frequently present. Our data may have important implications for vaccination programs and the development of cervical screening.

A Case of Ileal Duplication Cyst Lined by Ciliated Columnar and Squamous Epithelium / 대한소화기학회지

Duplication is a rare congenital abnormality and may occur in any region of the gastrointestinal tract. A 19-year-old woman was admitted due to lower abdominal pain. Abdomino-pelvic CT scan showed a cystic mass interpreted as mesenteric cyst or duplication cyst. On the operation finding, it seemed to be arised from mesentery but attached to the ileum. Microscopically, the cystic wall was lined by non-keratinizing squamous, ciliated pseudostratified columnar epithelium, and ectopic gastric mucosa with two distinct muscular layers and a serosa. We report the first case of ileal duplication cyst lined by squamous and ciliated columnar epithelium in Korea.

A Case of Canaliculitis due to Actinomyces-Infected Nasolacrimal Stent in the Inferior Meatus / 대한이비인후과학회지

Actinomycosis of nasal cavity and paranasal sinuses is a rare chronic infectious disease. Canaliculitis is an uncommon condition which is developed from various causes. A case of canaliculitis due to actinomyces-infected nasolacrimal stent is reported.