OBJECTIVE: To investigate the distribution and phenotypes of hemifacial microsomia (HFM) and its association with other anomalies. METHODS: This study included 249 Korean patients with HFM, whose charts, photographs, radiographs, and/or computed tomography scans acquired during 1998–2018 were available from Seoul National University Hospital and Dental Hospital. Prevalence according to sex, side involvement, degree of mandibular deformity, compensatory growth of the mandibular body, and Angle's classification, and its association with other anomalies were statistically analyzed. RESULTS: Prevalence was not different between male and female patients (55.0% vs. 45.0%, p > 0.05). Unilateral HFM (UHFM) was more prevalent than bilateral HFM (BHFM) (86.3% vs. 13.7%, p < 0.001). Although distribution of the Pruzansky–Kaban types differed significantly in patients with UHFM (I, 53.0%; IIa, 18.6%; IIb, 24.7%; III, 3.7%; p < 0.001), no difference was observed in occurrence between the right and left sides (52.6% vs. 47.4%, p > 0.05). Among patients with BHFM, prevalence of different Pruzansky–Kaban types on the right and left sides was greater than that of the same type on both sides (67.6% vs. 32.4%, p < 0.05). Despite hypoplasia of the condyle/ramus complex, compensatory growth of the mandibular body on the ipsilateral side occurred in 35 patients (14.1%). Class I and II molar relationships were more prevalent than Class III molar relationships (93.2% vs. 6.8%, p < 0.001). Forty-eight patients (19.3%) had other anomalies, with 50.0% and 14.4% in the BHFM and UHFM groups (p < 0.001). CONCLUSIONS Patients with HFM require individualized diagnosis and treatment planning because of diverse phenotypes and associations with other anomalies.

Objective: To investigate the distribution, side involvement, phenotype, and associated anomalies of Korean patients with craniofacial clefts (CFC). Methods: The samples consisted of 38 CFC patients, who were treated at Seoul National University Dental Hospital during 1998–2018. The Tessier cleft type, sex, side involvement, phenotype, and associated anomalies were investigated using nonparametric statistical analysis. Results: The three most common types were #7 cleft, followed by #0 cleft and #14 cleft. There was no difference between the frequency of male and female. Patients with #0 cleft exhibited nasal deformity, bony defect, and missing teeth in the premaxilla, midline cleft lip, and eye problems. A patient with #3 cleft (unilateral type) exhibited bilateral cleft lip and alveolus. All patients with #4 cleft were the bilateral type, including a combination of #3 and #4 clefts, and had multiple missing teeth. A patient with #5 cleft (unilateral type) had a posterior openbite. In patients with #7 cleft, the unilateral type was more prevalent than the bilateral type (87.0% vs. 13.0%, p < 0.001). Sixteen patients showed hemifacial microsomia (HFM), Goldenhar syndrome, and unilateral cleft lip and palate (UCLP). There was a significant match in the side involvement of #7 cleft and HFM (87.5%, p < 0.01). Patients with #14 cleft had plagiocephaly, UCLP, or hyperterorbitism. A patient with #30 cleft exhibited tongue tie and missing tooth. Conclusions Due to the diverse associated craniofacial anomalies in patients with CFC, a multidisciplinary approach involving a well-experienced cooperative team is mandatory for these patients.

Endocrine disruptors are known to cause harmful effects to human through various exposure routes. These chemicals mainly appear to interfere with the endocrine or hormone systems. As importantly, numerous studies have demonstrated that the accumulation of endocrine disruptors can induce fatal disorders including obesity and cancer. Using diverse biological tools, the potential molecular mechanisms related with these diseases by exposure of endocrine disruptors. Recently, pathway analysis, a bioinformatics tool, is being widely used to predict the potential mechanism or biological network of certain chemicals. In this review, we initially summarize the major molecular mechanisms involved in the induction of the above mentioned diseases by endocrine disruptors. Additionally, we provide the potential markers and signaling mechanisms discovered via pathway analysis under exposure to representative endocrine disruptors, bisphenol, diethylhexylphthalate, and nonylphenol. The review emphasizes the importance of pathway analysis using bioinformatics to finding the specific mechanisms of toxic chemicals, including endocrine disruptors.
Computational Biology ; Endocrine Disruptors ; Humans ; Obesity

Cytomegalovirus(CMV) infections are common in immune compromised situations such as human immunodeficiency virus infection and organ transplantation. However CMV colitis had been rarely found in immunocompetent individuals. We experienced a case of an 83-year-old female patient, initially immune competent, who developed a massive lower gastrointestinal bleeding caused by CMV colitis. Previously, multiple antibiotics were used for nontuberculous Myco- bacterium and other bacterial infections after total knee arthroplasty. Colonoscopy revealed multiple ulcerations and mucosal congestion with hemorrhage. In spite of ganciclovir therapy, our patient did not recover.
Aged, 80 and over ; Anti-Bacterial Agents ; Arthroplasty ; Bacterial Infections ; Colitis ; Colonoscopy ; Cytomegalovirus ; Estrogens, Conjugated (USP) ; Female ; Ganciclovir ; Hemorrhage ; HIV ; Humans ; Knee ; Mycobacterium Infections, Nontuberculous ; Nontuberculous Mycobacteria ; Organ Transplantation ; Transplants ; Ulcer

BACKGROUND/AIMS: Mucosal atrophy is defined as the loss of appropriate glands in the gastric mucosa; such a finding suggests that this malady is associated with an excessive ratio of apoptotic cells to proliferating epithelial cells. However, exactly why the genesis and progression of the atrophic changes takes place in the gastric mucosa of some, but not all of the subjects infected with H. pylori, is seldom described. TGF-beta1 (transforming growth factor-beta1) is a potent growth inhibitor in epithelial tissues, and it also induces apoptosis of epithelial cells. We evaluated its role in the pathogenesis of atrophic gastritis by analyzing the expression of TGF-beta1. METHODS: The subjects were 14 patients with chronic atrophic gastritis and 43 patients with chronic gastritis. The exclusion criteria were as follows; those patients who had a previous history of gastrectomy, PPI, H. pylori eradication, NSAIDs, stomach cancer and/or a severe bleeding tendency. Biopsy specimens were obtained from the antrum, angle and body of the stomach, respectively and we performed RT-PCR for determining the expression of TGF-beta1 mRNA with using an additional angle specimen. RESULTS: The clinical parameters were similar in both groups. The rate of H. pylori infection was also similar in both groups. The TGF-beta1 levels were significantly higher for the chronic atrophic gastritis group than for the chronic gastritis group. CONCLUSIONS: The results that the TGF-beta1 levels are significantly higher in the chronic atrophic gastritis group suggest that TGF-beta1 is associated with the development of atrophic gastritis. The apoptotic process induced by TGF-beta1 may be linked to the development of atrophic gastritis.
Anti-Inflammatory Agents, Non-Steroidal ; Apoptosis ; Atrophy ; Biopsy ; Epithelial Cells ; Gastrectomy ; Gastric Mucosa ; Gastritis ; Gastritis, Atrophic* ; Hemorrhage ; Humans ; RNA, Messenger ; Stomach ; Stomach Neoplasms ; Transforming Growth Factor beta1*

BACKGROUND: The aims of this study were to evaluate whether genotypes of Helicobacter pylori are different between the gastric antrum and duodenal bulb in order to assess the roles of duodenal H. pylori strains in development of duodenal ulcer. METHODS: Forty-eight H. pylori infected patients (duodenal ulcer 28, chronic gastritis 20) were included for the study. Biopsy specimens were taken separately from the antrum and duodenal bulb for the histologic examination and H. pylori culture. cagA, vacA, and iceA genotypes of H. pylori were examined by polymerase chain reaction and H. pylori DNA subtypes by random amplified polymorphic DNA (RAPD) fingerprinting. RESULTS: H. pylori genotypes were not significantly different between antrum and duodenal bulb of the duodenal ulcer and chronic gastritis. RAPD fingerprinting showed different H. pylori strains between the gastric antrum and duodenal bulb in 2 patients with duodenal ulcer. Most prevalent genotype was cagA+ vacA s1/m1 iceA1 in duodenal ulcer (15/16). CONCLUSION: The host factor or other genotypes may play the major roles in duodenal ulcerogenesis compared with H. pylori genotype itself.
Biopsy ; Dermatoglyphics ; DNA ; Duodenal Ulcer* ; Gastritis ; Genotype* ; Helicobacter pylori* ; Helicobacter* ; Humans ; Polymerase Chain Reaction ; Pyloric Antrum ; Ulcer

BACKGROUND AND OBJECTIVES: Primary percutaneous coronary intervention (PCI) has been found to be superior, in terms of hospital mortality and long-term follow-up, compared with thrombolytic therapy for acute myocardial infarction (AMI). However, the clinical benefits of primary PCI have not been precisely evaluated in elderly patients. SUBJECTS AND METHODS: Two hundred and twenty three patients (Group I: n=66, age> or =75 years, Group II: n=157, age<75 years), who underwent primary PCI for AMI at Chonnam National University Hospital, between 2000 and 2002, were analyzed according to their clinical, angiographic characteristics, inhospital and one-year survival. RESULTS: Group I had a higher percentage of women (45.5% vs. 19.1%, p=0.00), multi-vessel disease (42% vs. 28%, p=0.031), right coronary artery disease (52% vs. 33%, p=0.021), and more frequent histories of diabetes mellitus (35% vs. 22%, p=0.039) and less smoking (38% vs. 60%, p=0.003) than Group II. Successful reperfusion by PCI was achieved in 97 and 96 %, respectively (p=NS). The rates of in-hospital mortality were similar in both groups (12.1% vs. 8.2%, p=NS). There were no significant differences in the major adverse cardiac events between the two groups during the one-year clinical follow-up (31.4 % vs. 36.9 %, p=NS). CONCLUSION: Primary PCI in AMI patients older than 75 years can be performed with comparable procedural success rates and long-term clinical outcomes to those of younger patients.
Aged ; Angioplasty ; Coronary Artery Disease ; Diabetes Mellitus ; Female ; Follow-Up Studies ; Hospital Mortality ; Humans ; Jeollanam-do ; Myocardial Infarction* ; Percutaneous Coronary Intervention* ; Reperfusion ; Smoke ; Smoking ; Thrombolytic Therapy

BACKGROUND/AIMS: Glucocorticoid resistance poses a challenging clinical problem in inflammatory bowel disease because more than one fourth of patients with severe ulcerative colitis do not respond to anti-inflammatory steroids. Recently, it has been reported that glucocorticoid response is related to the expression of human glucocorticoid receptor beta (hGRbeta) and nuclear factor-kappa B (NF-kappaB) activity. The aims of this study were to clarify whether these factors may predict the responsiveness before treatment. METHODS: Total RNA was extracted from peripheral blood mononuclear cell (PBMC) and colonic mucosa in 17 patients of ulcerative colitis before steroid administration. RNA was reverse transcribed and the resulting complementary DNA was amplified using specific primers for hGR alpha and beta. Concomitantly, NF-kappaB activity in colonic mucosa was assessed by immunohistochemical stain. RESULTS: The expression of hGRbeta mRNA was detected in 10 patients (58.8%) in PBMC and 8 patients (47.1%) in colon, respectively. Operations were performed in 5 patients due to steroid unresponsiveness. Only 5 of 17 patients (29.4%) were consistent in the expression of hGRbeta between PBMC and colon. Seven of 15 patients (46.7%) showed an alteration in the expression of hGRbeta in PBMC after glucocorticoid treatment. NF-kappaB activity was found in both epithelial cell and lamina propria in 12, epithelial cell alone in 1, lamina propria alone in 1 and all negative in 3 patients, respectively. CONCLUSIONS: The expression of hGRbeta was discordant between PBMC and colon in the same patient and showed a change in the expession after the glucocorticoid treatment in nearly half. The expression of hGRbeta and colonic NF-kappaB activity patterns do not provide useful information about glucocorticoid response in patients with ulcerative colitis.
Adult ; Colitis, Ulcerative/*metabolism ; Colon/metabolism ; Female ; Gene Expression ; Humans ; Immunohistochemistry ; Intestinal Mucosa/metabolism ; Leukocytes, Mononuclear/metabolism ; Male ; Middle Aged ; NF-kappa B/*metabolism ; RNA, Messenger/metabolism ; Receptors, Glucocorticoid/genetics/*metabolism

Gastric emphysema is rare but it has a fulminant course with high mortality rate. We report a 58-year old man who visited the emergency room because of severe vomiting and nausea which had started 2 days ago. He underwent curative pylorus-preserving pancreaticoduodenectomy due to ampullary cancer 4 months ago. He was diagnosed as gastric emphysema with combined portal vein emphysema. Only with conservative treatment such as intravenous fluids infusion and decompression of the stomach by nasogastric tube, the condition of the patient slowly improved. The patient was able to discharge without surgical intervention.
Decompression ; Emergency Service, Hospital ; Emphysema* ; Humans ; Middle Aged ; Mortality ; Nausea ; Pancreaticoduodenectomy ; Portal Vein* ; Stomach ; Vomiting*

BACKGROUND/AIMS: Lymph node (LN) metastasis occurs in approximately 10% of patients with submucosally invasive colorectal carcinoma. This study was performed to determine the role of matrix metalloproteinases (MMPs), tissue inhibitors of metalloproteinases (TIMPs) production and microvessel formation on the LN metastasis in submucosally invasive colorectal carcinoma. METHODS: A total of forty-one subjects with surgically resected submucosally invasive colorectal carcinoma were included in this study. Immunohistochemical staining of MMP-2, MMP-9, TIMP-1, TIMP-2, and urokinase-type plasminogen activator were performed. Angiogenesis was evaluated by counting the number of microvessels in each pathologic specimen as identified by CD34 immunohistochemical staining. RESULTS: The depth of submucosal invasion was not significantly correlated with the expression of MMP-2, MMP-9, TIMP-1, TIMP-2, or urokinase-type plasminogen activator, but the microvessel count was significantly correlated with the absolute depth of invasion (r=0.312, p<0.05). Upregulation of TIMP-2 was positively correlated with adjacent lymphatic invasion (p<0.05) and increased TIMP-2 expression was correlated with LN metastasis in submucosally invasive colorectal carcinoma (p=0.088). CONCLUSIONS: These results suggest that the expression of TIMP-2 and the microvessel count may be useful parameters for considering additional surgery after endoscopic treatment of submucosally invasive colorectal carcinoma.
Adult ; Aged ; Aged, 80 and over ; Colorectal Neoplasms/blood supply/*metabolism/pathology ; Female ; Humans ; Immunohistochemistry ; Lymphatic Metastasis ; Male ; Matrix Metalloproteinases/*metabolism ; Middle Aged ; Neoplasm Invasiveness ; Neovascularization, Pathologic/*pathology ; Tissue Inhibitor of Metalloproteinases/*metabolism