1q21.1 microdeletion identified by chromosomal microarray in a newborn with upper airway obstruction

A 1q21.1 microdeletion is an extremely rare chromosomal abnormality that results in phenotypic diversity and incomplete penetrance. Patients with a 1q21.1 microdeletion exhibit neurological-psychiatric problems, microcephaly, epilepsy, facial dysmorphism, cataract, and thrombocytopenia absent radius syndrome. We reported a neonate with confirmed intrauterine growth restriction (IUGR), micrognathia, glossoptosis, upper airway obstruction, facial dysmorphism, and eye abnormality at birth as well as developmental delay at the age of 1 year. These clinical manifestations, except for the IUGR and upper airway obstruction, in the neonate indicated a 1q21.1 microdeletion. Here, we report a rare case of a 1q21.1 microdeletion obtained via paternal inheritance in a newborn with upper airway obstruction caused by glossoptosis and tracheal stenosis.

Peptide YY producing strumal carcinoid tumor of the ovary in a postmenopausal woman: a rare cause of chronic constipation

Strumal carcinoid tumor of the ovary is a rare subtype of ovarian carcinoid tumors; it is characterized by an intimate mixture of thyroid and carcinoid tissues. We present a case of a 64-year-old woman who presented with the chief complaint of persistent, severe constipation for over 5 years; she was later found to have an ovarian strumal carcinoid tumor. Computed tomography showed a well-defined solid mass measuring 6.4 cm at the right adnexa. The patient underwent right salpingo-oophorectomy and was histopathologically diagnosed as having a strumal carcinoid tumor. Immunohistochemical examination showed immunoreactivity for peptide YY (PYY), which exerts an inhibitory effect on the peristaltic actions of the distal intestine. After surgery, the patient's constipation resolved rapidly, suggesting a correlation between PYY producing ovarian carcinoid tumor and constipation. This is the first case report of PYY producing primary strumal carcinoid tumor of the ovary associated with persistent, severe constipation from Korea.

Comparison of Electroretinogram Waveforms Acquired Using Monopolar ERG-Jet Electrode and Bipolar Burian-Allen Electrode

PURPOSE: To compare electroretinogram (ERG) waveforms acquired using an ERG-jet electrode and a Burian-Allen electrode. METHODS: ERGs were recorded with an ERG-jet electrode and a Burian-Allen electrode from both eyes of 29 volunteers. Three consecutive recordings were obtained with both electrodes from the left eye of another 6 volunteers. Peak-to-trough amplitudes and peak implicit times were compared between both eyes, and between the 2 types of electrodes. Interpersonal and intrapersonal variation were also compared. RESULTS: The differences in amplitude and implicit time between the right and left eyes were not influenced by the type of electrode. The amplitude of the ERG acquired using the Burian-Allen electrode, however, showed significant differences between both eyes, contrary to the amplitude acquired using the ERG-jet electrode. ERG recordings obtained using the ERG-jet electrode generally showed higher amplitude, shorter implicit time, and less interpersonal and intrapersonal variation than ERG recordings obtained using the Burian-Allen electrode. CONCLUSIONS: In this application, the ERG-jet ERG electrode appeared to be superior to the Burian-Allen electrode in terms of both usefulness and consistency.

A Case of Wegener's Granulomatosis with Delayed Diagnosis due to Clinical Features of Henoch-Schonlein Purpura / 결핵및호흡기질환

Wegener's granulomatosis is a systemic vasculitis of the medium and small arteries, as well as of the venules, arterioles, and occasionally large arteries, and primarily involves the upper and lower respiratory tracts and the kidneys. Renal symptoms of Wegener's granulomatosis are indistinguishable from those of vasculitis such as Henoch-Schonlein purpura and microscopic polyangiitis. This case, though initially diagnosed as Henoch-Schonlein purpura, was confirmed as Wegener's granulomatosis from a lung biopsy fifteen years after the initial diagnosis. We report this case with a review of the literature.

A Case of Wegener's Granulomatosis with Delayed Diagnosis due to Clinical Features of Henoch-Schonlein Purpura / 결핵및호흡기질환

Wegener's granulomatosis is a systemic vasculitis of the medium and small arteries, as well as of the venules, arterioles, and occasionally large arteries, and primarily involves the upper and lower respiratory tracts and the kidneys. Renal symptoms of Wegener's granulomatosis are indistinguishable from those of vasculitis such as Henoch-Schonlein purpura and microscopic polyangiitis. This case, though initially diagnosed as Henoch-Schonlein purpura, was confirmed as Wegener's granulomatosis from a lung biopsy fifteen years after the initial diagnosis. We report this case with a review of the literature.

A Case of Idiopathic Colitis Developed after Barium Enema / 대한소화기학회지

It has been reported that colitis may be associated with intrarectally administered drugs or chemicals. Colonotoxicity may results from conventional medical therapy, herbal or other illicit drugs, contrast materials, and detergents. Clues that a colitis may be due to an intrarectally administered agent include perianal excoriation, segmental distal colitis due to a concentration gradient from enema administration, and recent diagnostic or therapeutic administration of high risk solutions such as hypertonic contrast agents or detergent enemas. Barium is a highly viscous contrast agent that is insoluble in water. Barium enemas are usually very safe. Also, no case report of barium-induced chemical colitis has been reported yet. We report a case of chemical colitis with colonic stricture occurring after the barium enema for diagnostic purpose.

Peribiliary Cysts with Intrahepatic Bile Duct Obstruction: A Case Report

Peribiliary cysts involve cystic dilatation and necroinflammatory change in the peribiliary glandular tissue of the larger biliary tree in association with portal hypertension or severe hepatobiliary disease. They are usually asymptomatic and found incidentally. However, rare cases causing symptoms or the mass effect of bile duct compression require differential diagnosis. They may be benign or malignant lesions resulting from narrowing of the bile duct and involving dilatation of the proximal intrahepatic bile duct. We recently encountered a case of peribiliary cysts associated with intrahepatic duct dilatation, and confirmed by surgery, and present the imaging and pathologic findings. Sonography and CT revealed the presence of multiple cystic lesions along the hepatic hilum, and the larger left portal tract and left intrahepatic ducts were dilated. Histopathologic examination indicated that the cysts were compressing the central bile duct.

Histopathological Features and the Clinical Significance of White Spots around Colon Cancer / 대한소화기내시경학회지

BACKGROUND AND AIMS: To investigate the difference between colorectal adenocarcinomas with white spots (foamy cells) and those without white spots, clinically and histopathologically, were examined 37 cases of colorectal adenocarcinomas were classified in this study. METHODS: Two groups: those with white spots and those without. In each case, evidence of lymph node and liver metastasis was sought. Immunoreactive staining for macrophage was performed. RESULTS: Increased incidence of exophytic tumors was found (73%, p=0.028) in the group with white spots. The incidences of lymph node metastasis were 33% vs. 45% between the group with white spots and the group of without, but the difference was not statistically significant. CONCLUSIONS: These results suggested that foamy cells might have a beneficial role in colorectal cancer, although they were not statistically significant. Therefore, further prospective study be warranted.

The Study of the Positivity of Helicobacter pylori in the Intestinal Metaplasia Detected by Methylene Blue Chromoendoscopy and Histology / 대한소화기내시경학회지

BACKGROUND AND AIMS: To assess the relationship between the intestinal metaplasia, Helico-bacter pylori infection, and H. pylori positivity, the difference in the type of intestinal metaplasia according to H. pylori status were examined. METHODS: Chromoendoscopy by methylene blue stain method was performed to assess the diagnostic viability for the detection of intestinal metaplasia in subjects who having histologically determined intes-tinal metaplasia. RESULTS: Intestinal metaplasia was found in 35 subjects. Of these, 21subjects (60%) were male and 14 subjects (40%) were female. Of 35 subjects, 26 subjects were H. pylori positive cases (74.3%) and 9 subjects were H. pylori negative cases (25.7%). The mean age of intestinal metaplasia subjects was 51.5 8.9 years. Of these, the mean age of H. pylori positive subjects was 49.5 8.0 years, whereas the mean age of H. pylori negative subjects was 57.2 9.2 years (p <0.05). On the type of intestinal metaplasia, 31 subjects showed type I (88.6%) and 4 subjects showed type II (11.4%). There was no statistical difference of intestinal metaplasia type according to H. pylori status. The diagnostic value of methylene blue chromoendoscopy in the diagnosis of intestinal metaplasia had a sensitivity of 82.4%, specificity of 100%, positive predictivevalue of 100% and negative predictive value of 75%. CONCLUSIONS: Although a causal relationship between H. pylori infection and the histogenesis of intestinal metaplasia was not proven, it is suggested that H. pylori positive cases lead to an earlier development of intestinal metaplasia than H. pylori negative cases. Therefore, it is important to assess the probability of the development of gastric carcinoma through a follow up study.

Enhancing Pattern of Gastric Carcinoma at Dynamic Incremental CT: Correlation with Gross and Histologic Findings

PURPOSE: To evaluate the enhancing pattern of gastric carcinomas at dynamic incremental CT and to correlate it with pathologic findings. MATERIALS AND METHODS: We retrospectively evaluated the enhancement pattern of stomach cancer on dynamic incremental CT of the 78 patients. All the lesions had been pathologically proved aftersurgery. The enhancement pattern was categorized as good or poor in the early phase ; homogeneous, heterogeneous or ring enhancement ; the presence or absence of delayed enhancement. There were 16 cases of early gastriccancer(EGC), and 62 cases of advanced gastric cancer(AGC). The Borrmann type of AGC were 1(n=1), 2(n=20), 3(n=32),4(n=8) and 5(n=1). The histologic patterns of AGC were tubular(n=49), signet ring cell(n=10), and mucinous(n=3). The enhancing patterns were compared with gross and histologic findings and delayed enhancement was corrrelated with pathologic evidence of desmoplasia. RESULTS: Good enhancement of tumor was seen in 24/41cases (58.5%) with AGC Borrmann type 3-5, in 6/21(28.6%) with AGC Borrmann type 1-2, and in 3/16(18.8%) with EGC (P<.05). By histologic pattern, good enhancement of tumor was seen in 8/10(80%) with signet ring cell type, in 21/49(42.9%)with tubular type, and in 1/3(33.3%) with mucinous type(P<.05). EGC was homogeneously enhanced in 14/16cases(87.5%), but AGC was heterogeneously enhanced in 33/62(53.2%), respectively(P<.01). There was no significant correlation between delayed enhancement and the presence of desmoplasia. CONCLUSION: AGC Borrmann type 3-5 andsignet ring cell type have a tendency to show good enhancement and EGC is more homogeneously enhanced at dynamicincremental CT.