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

PURPOSE: Acute appendicitis is one of the most common surgical emergencies worldwide. Laparoscopic appendectomy (LA) is being accepted as the 'gold standard' surgery for simple acute appendicitis over open appendectomy (OA); however, for complicated appendicitis, no consensus has been reached with regard to which produces better outcomes. METHODS: We analyzed the data of patients who were diagnosed as complicated appendicitis, older than 18 years old, and underwent LA or OA from January 2008 to December 2012. A total of 2,173 patients had acute appendicitis during this period and 461 (21.2%) of them had complicated appendicitis; 335 patients were finally enrolled and divided into LA (280), OA (49), and Converted to open Appendectomy (CA) groups (6), respectively. Age, sex, preoperative WBC, operating time, stapler usage, time to diet and discharge, total cost and complication among the three groups were analyzed. RESULTS: No significant differences were observed in sex, age, history of abdominal surgery, preoperative WBC, and total cost. Shorter operating time (62.3+/-30.0 vs 87.3+/-40.2, p=0.000), shorter time to diet (2.7+/-2.2 vs 3.7+/-1.6, p=0.001), shorter postoperative stay (4.8+/-2.6 vs 7.1+/-2.5, p=0.000), shorter duration of pain (3.4+/-1.7 vs 5.6+/-2.8, p=0.000), and less frequent usage of pain killer (68.2% vs 89.1%, p<.001) were observed in the laparoscopic group. Complication rate was significantly lower in the LA group (4.6% vs 18.4%, p=0.002). CONCLUSION: Results of this study provide clinical evidence that laparoscopic surgery is a feasible and safe surgical modality for complicated appendicitis. Conduct of more reliable, large scaled, randomized prospective study will be necessary in order to prove the superiority of laparoscopic surgery for complicated appendicitis.
Appendectomy* ; Appendicitis* ; Consensus ; Diet ; Emergencies ; Humans ; Laparoscopy

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*

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

Intussusception in adult is a rare disease and laparotomy is usually considered because of the probability of malignancy. Especially with obstruction symptom or sign, it might be needed emergency operation. This case was a simultaneous development of small bowel intussusception and acute hepatitis A. The patient had abdominal pain and vomiting. Intitial laboratory examination with elevated aminotransferase revealed that the diagnosis was acute hepatitis. As managing acute hepatitis, the abdominal pain was not improved and the patient had tenderness on periumbilical area on physical examination. A jejunal intussusception with a lead point was proved on the abdominal computed tomography scan. Fortunately, symptom of intussusception was relieved while nulli per os (NPO) and intravenous hydration. After recovery of acute hepatitis, laparotomy was done. The lead point was 2.5x3.0 cm sized hamartoma. This was the case that the symptom of intussusception was confused with that of acute hepatitis.
Abdominal Pain ; Adult ; Emergencies ; Hamartoma ; Hepatitis ; Hepatitis A ; Humans ; Intussusception ; Laparotomy ; Physical Examination ; Rare Diseases ; Vomiting

Glomus tumors are benign lesions that originate from modified smooth muscle cells of the glomus body. These tumors are commonly observed in the dermis or subcutis, but they are only rarely found in the stomach. We describe here a 37-year- old male patient who presented with intermittent epigastric pain and in whom a submucosal tumor was encountered during performance of upper gastrointestinal endoscopy. A gastrofibroscopy demonstrated a 12 mm sized submucosal mass with central ulceration on the greater curvature-posterior wall of the high body. Endoscopic ultrasonography revealed a circumscribed inhomogeneneous hypo- echoic mass with a focal hyperechoic mass in the third layer of the stomach. We resected the entire mass using an endoscopic resection technique, and there were no complications. Histologically, the tumor cells had uniform small nucleuses with inconspicuous nucleoli. Immunochemical analysis of the tumor cells showed positivity for smooth muscle actin and negativity for CD34, KIT, S100 protein and desmin. This is the first case of a glomus tumor of the stomach that was resected by endoscopic resection.
Actins ; Dermis ; Desmin ; Endoscopy, Gastrointestinal ; Endosonography ; Glomus Tumor ; Humans ; Male ; Muscle, Smooth ; Myocytes, Smooth Muscle ; Stomach ; Ulcer

Small bowel lesions located in long and multiple complex loop configurations were difficult to diagnose early because of vague clinical manifestations and because of the poor diagnostic yield of conventional examination methods. In this setting, double-balloon enteroscopy (DBE) was an epoch-making diagnostic and therapeutic tool for the management of patients with small bowel disease. Single-balloon enteroscopy (SBE), lacking a balloon at the endoscopic tip, is also a useful method for investigating and managing suspected small bowel lesions. Mucosa associated lymphoid tissue (MALT) lymphoma of the small bowel is relatively uncommon and remains a localized disease for long periods in most patients. Recently, we experienced a case of advanced-stage MALT lymphoma in the jejunum. A 60-year old female, with a history of anemia of unknown etiology and who was suspected of having a small bowel lesion, presented with complaints of vague abdominal pain and dizziness. She had undergone SBE via the oral route. She was diagnosed with MALT lymphoma of the jejunum and treated with medical management.
Abdominal Pain ; Anemia ; Dizziness ; Double-Balloon Enteroscopy ; Female ; Humans ; Jejunum ; Lymphoid Tissue ; Lymphoma ; Lymphoma, B-Cell, Marginal Zone ; Mucous Membrane

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.

Purpose: Surgical management of obstructive left colon cancer (OLCC) is still a matter of debate. The classic Hartmann procedure (HP) has a disadvantage that requires a second major operation. Subtotal colectomy/total abdominal colectomy (STC/TC) with ileosigmoid or ileorectal anastomosis is proposed as an alternative procedure to avoid stoma and anastomotic leakage. However, doubts about morbidity and functional outcome and lack of long-term outcomes have made surgeons hesitate to perform this procedure. Therefore, this trial was designed to provide data for morbidity, functional outcomes, and long-term outcomes of STC/TC. Methods: This study retrospectively analyzed consecutive cases of OLCC that were treated by STC/TC between January 2000 and November 2020 at a single tertiary referral center. Perioperative outcomes and long-term outcomes of STC/TC were analyzed. Results: Twenty-five descending colon cancer (45.5%) and 30 sigmoid colon cancer cases (54.5%) were enrolled in this study. Postoperative complications occurred in 12 patients. The majority complication was postoperative ileus (10 of 12). Anastomotic leakage and perioperative mortality were not observed. At 6 to 12 weeks after the surgery, the median frequency of defecation was twice per day (interquartile range, 1–3 times per day). Eight patients (14.5%) required medication during this period, but only 3 of 8 patients required medication after 1 year. The 3-year disease-free survival was 72.7% and 3-year overall survival was 86.7%. Conclusion The risk of anastomotic leakage is low after STC/TC. Functional and long-term outcomes are also acceptable. Therefore, STC/TC for OLCC is a safe, 1-stage procedure that does not require diverting stoma.