The Harlequin fetus-ichthyosis fetalis-is known to be rare. Recently, we experienced a case of Harlequin fetus in stillborn infant due to autosomal recessive inheritance likely. A review of literature was done briefly.
Humans ; Ichthyosis, Lamellar* ; Infant ; Wills

Primary Pulmonary leiomyosarcomas are rare tumors. These tumors may arise at any level of the lung in which smooth muscle fibers are found. The highest incidence of sarcoma is during the fourth decade whereas for bronchogenic carcinoma the maximum incidence is during the sixth and seventh decades. Leiomyosarcomas are aggressive and progressive. Treatment is mainly surgical. The chemotherapy is ineffective and the effectiveness of radiotherapy depends on the total dose of irradiation. Prognosis and significant survival rate are related to the size of the lesion. We report one patient with primary pulmonary leiomyosarcoma involving the right lower lung.
Carcinoma, Bronchogenic ; Drug Therapy ; Humans ; Incidence ; Leiomyosarcoma* ; Lung ; Muscle, Smooth ; Prognosis ; Radiotherapy ; Sarcoma ; Survival Rate

Recurrence of progressive familial intrahepatic cholestasis (PFIC) type II poses challenges during postoperative liver transplant care. Posttransplant patients with PFIC type II risk developing recurrent cholestasis with normal gamma-glutamyl transferase activity, which mimics the original bile salt export pump (BSEP) protein deficiency and is related to a form of immunoglobulin G antibody (anti-BSEP)-mediated rejection. Bortezomib effectively induces apoptosis of actively antibody-producing plasma cells that may have a role in antibodymediated rejection. In this case, we used bortezomib to treat PFIC type II recurrence after liver transplantation in a child.

Although stress-induced cardiomyopathy (SCMP) is a reversible disease and the prognosis is usually excellent, several complications can occur and can result in fatal adverse events. The formation of left ventricular (LV) thrombus is one of these critical complications of SCMP. This report describes a case of SCMP complicated by formation of a LV thrombus that became increasingly mobile as LV contractility recovered, and for which surgical removal was performed. Here, we report a case of SCMP complicated by LV thrombus and review the literature regarding this topic.
Cardiomyopathies* ; Echocardiography ; Humans ; Prognosis ; Takotsubo Cardiomyopathy ; Thrombosis*

Many patients of gastroenterology clinics complain symptoms requiring colonic investigations. Radiological examinations may fail to detect early inflammatory bowel diseases and small neoplasms or polyps. And therefore colonoscopies are performed in preference to barium enema. Recently several reports raised a question regarding whether biopsy is necessary in a macroscopically normal colon. To determine what proportion of apparently normal colons is histologically abnormal, to measure the thickness of subepithelial basement membrane(SEBM) in normal colons, and to see whether the thiekness varies according to the different areas of the large bowel we prospectively analyzed 100 consecutive subjects with normal laboratory findings and normal mucosa on colonoscopy. Significant histologic abnormalities were not detected in all 100 cases. Thickness of SEBM (mean+SD) was 1.6+0.4 um at hepatic flexure, 1.6+0.4um at splenic flexure and 1.7+0.4 pm at sigmoid colon. The SEBM was significantly thicker at the sigmoid colon than at the hepatic flexure. Range of thickness of normal SEBM was 0.8 to 2.5 pm(mean+2SD). Maximum thickness of SEBM was 3 pm. The result of this study suggests that doing colonoscopic biopsies in all normal colons do not seem to be essential in Koreans yet.
Barium ; Biopsy* ; Colon ; Colon, Sigmoid ; Colon, Transverse ; Colonoscopy* ; Enema ; Gastroenterology ; Humans ; Inflammatory Bowel Diseases ; Mucous Membrane ; Polyps ; Prospective Studies

L-transposition of the great arteries (L-TGA) is a rare congenital anomaly and could cause complete atrioventricular (AV) block at relatively younger age. We present a case of 43-year-old male who complained of dizziness due to complete AV block. We confirmed L-TGA using transthoracic echocardiography and cardiac computed tomography. Permanent pacemaker was inserted without complications. No invasive treatment including corrective surgery was performed because patient's cardiac function was almost normal and the symptom was completely resolved after pacemaker insertion.
Adult ; Arteries* ; Atrioventricular Block* ; Dizziness ; Echocardiography ; Heart Defects, Congenital ; Humans ; Male

Obstructive disorders of the biliary trees include occlusions of the bile duct lumen by stones, intrinsic disorders of the bile ducts, and extrinsic compressions. The most common biliary cause of obstructive jaundice is the presence of stones. Intrinsic disorders of the bile ducts may be inflammatory, infectious, or neoplastic. And significant enlargement of adjacent lymph nodes due to metastatic tumors or lymphoma can occasionally obstruct the extrahepatic bile ducts. But obstructive jaundice produced by periportal tuberculous lymphadenitis with no evidence of pulmonary tuberculosis is very rare. We report a case of tuberculous lymphadenitis causing obstructive jaundice with a mass around mid common bile duct on abdominal sonogram, CT scan and ERCP, and it was confirmed by an exploratory laparotomy.
Bile Ducts ; Bile Ducts, Extrahepatic ; Cholangiopancreatography, Endoscopic Retrograde ; Common Bile Duct ; Jaundice, Obstructive* ; Laparotomy ; Lymph Nodes ; Lymphoma ; Tomography, X-Ray Computed ; Tuberculosis, Lymph Node* ; Tuberculosis, Pulmonary

We report here on a rare case of primary AL hepatic amyloidosis associated with multiple myeloma in a 64-year-old woman. The patient was referred for evaluating her progressive jaundice and right upper quadrant pain. 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography (PET)/computed tomography (CT) showed diffusely and markedly increased 18F-FDG uptake in the liver. Although there have been several case studies showing positive 18F-FDG uptake in pulmonary amyloidosis, to the best of our knowledge, the 18F-FDG PET/CT findings of hepatic amyloidosis or primary hepatic amyloidosis associated with multiple myeloma have not been reported previously.
Amyloidosis/complications/pathology/*radionuclide imaging ; Biopsy, Needle ; Female ; Fluorodeoxyglucose F18/*diagnostic use ; Humans ; Liver/pathology ; Liver Diseases/complications/pathology/*radionuclide imaging ; Middle Aged ; Multiple Myeloma/*complications ; *Positron-Emission Tomography and Computed Tomography ; Radiopharmaceuticals/*diagnostic use

OBJECTIVE: In the areas where intestinal metaplasia of the stomach is highly prevalent, diagnosing Barrett's esophagus solely by the presence of specialized columnar epithelium in the distal esophagus may lead to many false positive diagnoses. The aim of this study was to test validity of the specialized columnar epithelium as a diagnostic criterion of the short segment Barrett's esophagus in Korea. METHODS: During routine gastroscopy, the length of columnar-lined esophagus was measured and biopsy samples were taken from the mucosa immediately distal to the squamocolumnar junction. Under light microscopy, alcian blue-positive cells were identified. RESULTS: Prevalence of the specialized columnar epithelium in cases without the columnar-lined esophagus and with the short segment columnar-lined esophagus were 57.1% and 31.2%, respectively (P = 0.0281). The specialized columnar epithelium is frequently seen around the cardia in Koreans with or without the columnar-lined esophagus. CONCLUSION: Simple presence of the specialized columnar epithelium is not a valid criterion for a diagnosis of Barrett's esophagus. We propose that both the short segment Barrett's esophagus and the goblet cell metaplasia of the cardia might be grouped together under a title of "the specialized columnar epithelium around the gastroesophageal junction" as a potential preceding condition of adenocarcinoma around the cardia.
Adult ; Aged ; Barrett Esophagus/pathology* ; Biopsy, Needle ; Cardia/pathology* ; Epithelium/pathology ; Esophagoscopy ; Female ; Human ; Male ; Middle Age ; Reproducibility of Results ; Sensitivity and Specificity

Background: This study aimed to evaluate the effect of a prefabricated functional appliance (MyobraceⓇ ) on skeletal, dental, and soft tissue components in children with Class II, division 1 malocclusion. Methods: Thirteen patients with Class II, division 1 malocclusion (9 girls and 4 boys; mean age, 8.2±0.9 years at the start and 9.3±1.0 years at the end of the treatment) were treated with MyobraceⓇ for a mean period of 12.9±4.0 months. Patients were instructed to use the appliance daily for 1 hour and overnight while sleeping. A control group of 10 patients with untreated Class II, division 1 malocclusion (3 girls and 7 boys; mean age, 9.0±1.6 years at the start and 10.4±2.1 years at the end of the observation) was included to eliminate possible growth effects. The mean observation period for this group was 17.7±11.2 months. Lateral cephalograms were taken at the start and end of the treatment, and findings from 41 measurements were analyzed using the V-CephTM program. The mean and standard deviation of cephalometric measurements were analyzed using paired and independent sample t-tests. Results: The treatment group showed significant changes in SNB, ANB, maxillary protrusion, ramus height, proclination of upper anterior teeth, interincisal angle, overjet, and upper lip protrusion compared with the control group. However, only decrease in ANB, maxillary protrusion, overjet, upper lip protrusion, and increase in interincisal angle were significantly higher in the treatment group than in the control group. Conclusion The prefabricated functional appliance induced skeletal, dentoalveolar, and soft tissue changes, resulting in a significant reduction in anteroposterior discrepancy.