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

PURPOSE: A laparoscopic appendectomy is now commonly performed. The push in recent years toward reducing the number of ports required to perform this surgery has led to the development of a single-port laparoscopic appendectomy (SPA). We compared postoperative pain after an SPA using a glove port with a percutaneous organ-holding device (group 1) with that of an SPA using a commercially-available multichannel single-port device (group 2). METHODS: Between March 2010 and July 2011, a retrospective study was conducted of a total of 77 patients who underwent an SPA by three surgeons at department of surgery, Kangbuk Samsung Medical Center. Thirty-eight patients received an SPA using a glove port with a percutaneous organ-holding device. The other 39 patients received an SPA using a commercially-available multichannel single port (Octo-Port or SILS Port). Operative details and postoperative outcomes were collected and evaluated. RESULTS: There were no differences in the mean operative times, times to pass gas, postoperative hospital stays, or cosmetic satisfaction scores between the two groups. The pain score in the first 24 hours after surgery was higher in group 2 than group 1 patients (P < 0.001). Furthermore, the trocar used in group 2 was more expensive than that used in group 1. CONCLUSION: An SPA using a glove port with a percutaneous organ-holding device was associated with a lower pain score during the first 24 hours after surgery because of the shorter fascia incision length and a cheaper cost than an SPA using a commercially-available multichannel single-port device.
Appendectomy* ; Fascia ; Humans ; Length of Stay ; Operative Time ; Pain, Postoperative ; Retrospective Studies ; Surgical Instruments

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.

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

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

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

PURPOSE: Acute appendicitis is a type of abdominal disease that requires emergency surgery. Over the past three decades, laparoscopic appendectomy has become the standard operation for acute appendicitis. The aim of this paper is to compare the methods of single port appendectomy and conventional appendectomy and to illustrate the advantages of single port appendectomy. METHODS: The first group of patients underwent single port appendectomy using a surgical glove (Group 1), and those in the second group underwent surgery using the TriPort system (Group 2). The third group of patients underwent conventional three port surgery (Group 3). Questionnaires regarding patient satisfaction with scars were administered via telephone interview. Patient characteristics, histopathological data, postoperative data, and satisfaction score were analyzed by t-test and Pearson chi2 test. RESULTS: A statistically significant difference in satisfaction scores was observed among the three groups. Overall, patients in the single port group using a surgical glove would be more likely to recommend the procedure to friends and family than would patients in the other two groups. Better cosmetic results were achieved for both groups of patients who underwent laparoscopic single port appendectomy, compared to those who underwent conventional three port laparoscopic appendectomy, with statistically significant difference. CONCLUSION: Laparoscopic single port appendectomy using a surgical glove is a feasible and safe procedure and shows no differences in terms of risk, such as postoperative complication, compared to a conventional three-trocar technique. Use of this method resulted in better satisfaction compared with the other two groups, illustrating its cosmetic improvement.
Appendectomy ; Appendicitis ; Cicatrix ; Cosmetics ; Emergencies ; Friends ; Gloves, Surgical ; Humans ; Interviews as Topic ; Patient Satisfaction ; Postoperative Complications ; Surveys and Questionnaires

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.