Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000- 15,000 female births worldwide. The disease-causing gene has been identified as MECP2 (methyl- CpG-binding protein 2). In this study, we performed diagnostic mutational analysis of the MECP2 gene in RTT patients. Four exons and a putative promoter of the MECP2 gene were analyzed from the peripheral blood of 43 Korean patients with Rett syndrome by PCR-RFLP and direct sequencing. Mutations were detected in the MECP2 gene in approximately 60.5% of patients (26 cases/43 cases). The mutations consisted of 14 different types, including 9 missense mutations, 4 nonsense mutations and 1 frameshift mutation. Of these, three mutations (G161E, T311M, p385fsX409) were newly identified and were determined to be disease-causing mutations by PCR- RFLP and direct sequencing analysis. Most of the mutations were located within MBD (42.3%) and TRD (50%). T158M, R270X, and R306C mutations were identified at a high frequency. Additionally, an intronic SNP (IVS3+23C>G) was newly identified in three of the patients. IVS3+23C>G may be a disease-related and Korea-specific SNP for RTT. L100V and A201V are apparently disease-causing mutations in Korean RTT, contrary to previous studies. Disease-causing mutations and polymorphisms are important tools for diagnosing RTT in Koreans. The experimental procedures used in this study should be considered for clinical molecular biologic diagnosis.
Rett Syndrome/diagnosis/*genetics ; Polymorphism, Single Nucleotide ; Polymorphism, Restriction Fragment Length ; Polymerase Chain Reaction ; *Mutation ; Molecular Sequence Data ; Methyl-CpG-Binding Protein 2/*genetics ; Male ; Korea ; Humans ; Female ; DNA Mutational Analysis ; Base Sequence

A non-carious cervical lesion(NCCL) is the loss of tooth structure at the cementoenamel junction level that is unrelated to dental caries. This study was to evaluate the occlusal and periodontal status of teeth with non-carious cervical lesions. We evaluated 105 teeth with non-carious cervical lesions in 35 subjects aged 38-75 years and characterized them based on the shape and dimension, plaque retention, bleeding on probing(BOP), probing pocket depth(PPD), occlusal status, brushing type, hypersensitivity and wear facet. The results of this study were as follows 1. No significant association was observed between cervical lesions and occlusal contact in lateral excursions. 2. No significant difference occurred in plaque retention, PPD, BOP between teeth with and without cervical lesions. 3. Test teeth had a significantly higher percentage of hypersensitivity and occlusal wear facet than teeth without cervical lesions. 4. Wedge shaped lesions had a significantly higher percentage of plaque than saucer shaped lesions. 5. Teeth with plaque were found to have significantly deeper PPD than teeth without plaque retention in cervical regions. 6. Teeth with occlusal contacts were found to have significantly deeper PPD than teeth without occlusal contacts. 7. No significant association was observed between cervical lesions and PPD independent of plaque retention and occlusal contacts Although more knowledge is necessary, our results suggest that occlusal contact and bacterial plaque may influence on periodontal tissue, but NCCL is not directly associated with periodontal health
Dental Caries ; Hemorrhage ; Hypersensitivity ; Tooth Attrition ; Tooth Cervix ; Tooth*

This study was performed in order to identify changes of the plasma membrane proteins in rat submandibular gland tumors induced by 7,12-dimethylbenz[a]anthracene [DMBA] and X-irradiation. Two kinds of tumor associated membrane proteins (protein A and B) were isolated with 3 M KCl extraction from rat submandibular gland tumors induced by DMBA and X-irradiation. To identify their antigenicities, immunoelectrophoresis and double immunodiffusion was carried out with various proteins extracted from liver, heart, skin and pancreas of adult rats and from embryonic liver, heart and skin. The rabbit antisera against the protein A did not cross-react with any of the proteins extracted from the above mentioned tissues, suggesting that protein A might be tumor specific antigen. However, the rabbit antisera against protein B was precipitated with proteins extracted from the liver of adult and embryonic rats. Polyacrylamide gel electrophoresis of these two proteins (A and B) showed that protein A was a dimer with molecular weights of 69,000 and 35,000 dalton, whereas protein B was a monomer with molecular weight of 50,000 dalton.
9,10-Dimethyl-1,2-benzanthracene* ; Adult ; Animals ; Cell Membrane ; Electrophoresis, Polyacrylamide Gel ; Heart ; Humans ; Immune Sera ; Immunodiffusion ; Immunoelectrophoresis ; Liver ; Membrane Proteins ; Molecular Weight ; Pancreas ; Rats* ; Skin ; Staphylococcal Protein A ; Submandibular Gland*

Purpose: To investigate whether postoperative filtering bleb size affects the surgical outcome after trabeculectomy. Methods: In this study, we retrospectively reviewed 145 medically uncontrolled glaucoma patients with intraocular pressure (IOP) values >21 mmHg before surgery and data from ≥2 years of follow-up. Postoperative IOP, filtering bleb size including extent and height, and other clinical factors were measured after trabeculectomy. We divided bleb extent into quadrants and bleb height by 0.5 intervals of corneal thickness. The main outcome measure was surgical success. We confirmed complete success when the IOP was ≤21 mmHg and decreased by >20% from baseline without medication or additional procedures. Qualified success used the same criteria but allowed for medication or additional procedures. Cases with reoperation or two consecutive IOP measurements <6 mmHg were considered failures. Results: A total of 145 eyes of 145 patients was included. The average observation period was 30.8 ± 10.9 months. During multivariate Cox regression analysis, a larger extent of filtering bleb revealed significantly low hazard ratios in both complete and surgical success (0.509 and 0.494, respectively); however, there was no significant relationship between bleb height and surgical outcome. Conclusions The extent of the filtering bleb was associated with surgical outcomes of trabeculectomy in glaucoma patients.

The adenoma of major duodenal pallilla is a rare cause of acute pancreatitis. Also, ampullary adenoma is known as a premalignant lesion having the potential for malignant transformation. Especially, the diagnosis of the unexposed (intramural) type of ampullary adenoma, which shows normal overlying mucosa, is known to be very difficult. We report a case of an unexposed type of ampullary adenoma presented as acute pancreatitis. On duodenoscopic examination, mucocal abnormality of the mapulla of Vater was not noted. After endoscopic sphicterotomy, a nodular mass was exposed and the tubular adeonoma was histologically confirmed with endoscopic biopsy.
Adenoma* ; Ampulla of Vater ; Biopsy ; Cholangiopancreatography, Endoscopic Retrograde ; Diagnosis ; Endosonography ; Mucous Membrane ; Pancreatitis*

Benzidine Industry in Korea has started after Japan has banned its production in early 1970's. and it has been in operation in Korea for over 20 years. However, it is not known yet whether any bladder cancer has developed from benzidine exposure. This study was done to screen benzidine-exposed workers for bladder cancer, and to examine the feasibility of employing screening test at the workplace. All the workplaces that manufacture or use benzidine for more than 20 years in Korea have been covered in this study, and they include 2 benzidine manufacturing factories, 5 benzidine using factories, as well as 2 benzidine free factories as an outside control. In total, 516 workers were screened with urine stick test and urine cytology test for the evidence of hematuria and abnormal urothelial cells. Each worker was also asked about risk factors and symptoms of bladder cancer including past medical history, smoking, medication and occupational history. Benzidine in the air was measured by personal and area sampling. Out of 516 screened workers, 84(16.3%)workers showed positive hematuria in urine stick test, and 7(1.4%)workers showed degenerative cells in urine cytology tests. Those workers with abnormal urine test results who have been exposed to benzidine for more than 10 years were further screened, and, in total. 23 workers were examined with intra-venous pyelography and cystoscopy. None of those screened had any evidence of bladder cancer. When workers with only past hematuria history were included in the positive hematuria group, 96(18.5%) had positive hematuria. On the multiple logistic regression analysis, positive hematuria was significantly associated with benzidine exposure history of other occupations with elevated bladder cancer risk, pyuria and glycosuria. The association got stronger as direct benzidine exposure was accounted through individual task analysis, and as exposure duration was accounted with tenure analysis. For those with benzidine exposure with more than 10 years of tenure, the odds of having positive hematuria was elevated 2.14(95%C.I is 1.08 to 4.25) times more than for those without exposure. Even though bladder cancer was not detected for several limitations including short observation period, majority of studied workers with short latency, healthy worker effect, and low sensitivity of single screening test in a cross-sectional study, the study results suggest that hematuria screening is a feasible and very useful test for bladder cancer screening among benzidine exposed workers.
Cross-Sectional Studies ; Cystoscopy ; Glycosuria ; Healthy Worker Effect ; Hematuria* ; Humans ; Japan ; Korea ; Logistic Models ; Mass Screening ; Occupations ; Pyuria ; Risk Factors ; Smoke ; Smoking ; Urinary Bladder Neoplasms ; Urography

BACKGROUND AND OBJECTIVES: Treatment of head and neck cancer patients with surgical removal may result in some degree of dysphagia. Swallowing disorders depend on the site, the extent of surgical resection, and the nature of the surgical reconstruction. As a result, rehabilitation needs to be managed by head and neck surgeons with specific anatomical knowledge. However, in Korea, only occupational therapists can get approval for dysphagia rehabilitation from the national health insurance cooperation. Therefore, we designed a Advanced Rehabilitation Protocol (ARP) rehabilitation and carried out a comparative study against the current rehabilitation protocol. SUBJECTS AND METHOD: Data were collected by reviewing medical records of 40 patients who received operation on oral cavity, larynx and hypopharynx from November 2007 to January 2009. Of these, 20 patients were treated with ARP under the management of head and neck surgeons but the other 20 patients were not. RESULTS: Although the results had no statistical significance, the study showed that ARP had the effect of shortening the rehabilitation and enabled them to start adjuvant therapies early. CONCLUSION: Rehabilitation needs to be managed cooperatively by a multidisciplinary team that includes an otolaryngologist who has specific anatomical knowledge of the concerned area and reconstruction according to specific swallowing problems.
Deglutition ; Deglutition Disorders ; Head ; Head and Neck Neoplasms ; Humans ; Hypopharynx ; Korea ; Larynx ; Medical Records ; Mouth ; National Health Programs ; Neck

Purpose: Surgery to create a stoma for decompression might be required for unresectable stage IV cancer patients with complete colonic obstruction. The aim of this study was to compare the results of blowhole colostomy with those of loop ostomy. Methods: Palliative ileostomy or colostomy procedures performed at a single center between January 2011 and October 2020, were analyzed retrospectively. Fifty-nine patients were identified during this period. The demographic characteristics and outcomes between the blowhole colostomy group (n=24) and the loop ostomy group (n=35) were compared. Results: The median operative time tended to be shorter in the blowhole colostomy group (52.5 minutes; interquartile range [IQR], 43–65) than in the loop ostomy group (60 minutes; IQR, 40–107), but the difference did not reach statistical significance (P=0.162). The median length of hospital stay was significantly shorter with blowhole colostomy (blowhole, 13 days [IQR, 9–23]; loop, 21 days [IQR, 14–37]; P=0.013). Mean cecum diameter was significantly larger in the blowhole group than in the loop group (8.83±1.91 cm vs. 6.78±2.36 cm, P=0.001), and the emergency operation rate was higher in the blowhole group than in the loop group (22 of 24 [91.7%] vs. 23 of 35 [65.7%], P=0.021). Conclusion In surgical emergencies, diverting a blowhole colostomy can be safe and effective for palliative management of colonic obstruction in patients with end-stage cancer and might reduce the operative time in emergent situations.

Endoscopic treatment has been performed in a variety of pancreatic ductal diseases such as stones, strictures, sphincter stenosis, and ductal disruption and is known to be an effective therapy in some patients. Endoscopic treatment through the minor papilla is frequently done in patients with pancreas divisum. Few data are, however, available concerning endoscopic minor papilla interventions in patients without pancreas divisum but with difficult access to the main pancreatic duct at the major duodenal papilla. We present a 49-year-old man, who had pancreatic ductal leak caused by previous pancreatic surgery. He was treated by endoscopic naso-pancreatic drainage and pancreatic ductal stenting through the minor papilla, so called pancreatic rendezvous technique. Follow-up ductography after two-weeks of naso-pancreatic drainage showed no leak. This case shows that minor papillar orifice could be an alternative access for therapeutic endoscopic intervention in a patient with traumatic pancreatic ductal leak without pancreas divisum.
Ampulla of Vater ; Constriction, Pathologic ; Drainage ; Follow-Up Studies ; Humans ; Middle Aged ; Pancreas* ; Pancreatic Ducts ; Stents

OBJECTIVES: A prospective study was performed to find out the correlation between neutrophil, eosinophil and eosinophilic cationic protein (ECP)-the granular protein in eosinophil- and smoking history and pulmonary function change, METHODS: In this study there were seventy smokers and seventy lifetime nonsmokers. None of them had the history of atopy, or the evidence of parasitic infestation. Smoking history, spirometric pulmonary function test and blood samples for CBC, serum ECP were analyzed. RESULTS: 1) Eosinophil and neutophil count was elevated in the smokers compared with the nonsmokers. 2) Serum ECP was elevated in smokers and the magnitude of this increase was greater than that of eosinophil count. 3) In the smokers, there was a direct proportional correlation between serum ECP and FEV1, but inverse proportional correlation between neutophil count and FEV. 4) In the smokers, neutrophil count was elevated regardless of FEV value. 5) The level of serum ECP well correlated with the daily tobacco consumption but not with the duration of smoking or pack-year consumption. CONCLUSION: Incresed neutrophil count, decreased eosinophil count and decreased serum ECP level could be useful in the understanding of pathophysiology of lung parenchymal destruction in smokers.
Eosinophil Cationic Protein* ; Eosinophils* ; Lung ; Neutrophils* ; Prospective Studies ; Respiratory Function Tests ; Smoke* ; Smoking* ; Tobacco Use