Microsatellites are short nucleotide repeat sequences present throughout the human genome. Alterations of microsatellites, comprising extra or missing copies of these se quences, have been termed microsatellite instability(MSI, genetic instability, replication errors, RER(+) phenotype). To date, at least four genes involved in DNA mismatch repair, hMSH2, hMLH1, hPMS1 and hPMS2, are thought to account for the observation of microsatellite instability in tumor from Hereditary nonpolyposis colorectal cancer (HNPCC) patients. The genetic defect responsible for the MIN+ phenotype in sporadic colorectal cancer, however, has yet to be clearly delineated. The purpose of this study was to determine the presence of MSI in sporadic cancer and to correlate its occurrence with clinicopathological parameters, we have studied six microsatellite loci by use of polymerase chain reaction amplification and denaturing polyacrylamide gel electrophoresis. We found that 20%(9 of 46 cases) sporadic colorectal cancers showed RER at two or several loci(RER+). Microsatellite instability was associated with location of the tumor in the proximal colon 66%(6 of 9 cases) and with poorly differentiated tumor phenotype 56%(5 of 9 cases). In order to better understand the role of somatic alterations within hMSH2 in the process of colorectal tumorigenesis, we examined the most conserved regions(codon 598~789) of this gene in nine patients with MIN spotadic colorectal cancer. 6 patient of RER(+) colorectal ca. patients had a polymorphism which was a T to C base change in the intron sequence at -6 position of the splice acceptor site at the 5'end of exon 13. This particular sequence variation is a polymorphism rather than a mutation which increase cancer susceptability. These data suggest that the genetic instability is detect ed in some colorectal cancers and play an important role in the pathogenesis of sporadic colorectal cancer.
Carcinogenesis ; Colon ; Colorectal Neoplasms* ; Colorectal Neoplasms, Hereditary Nonpolyposis ; DNA Mismatch Repair ; Electrophoresis, Polyacrylamide Gel ; Exons ; Genome, Human ; Humans ; Introns ; Microsatellite Instability* ; Microsatellite Repeats* ; Phenotype ; Polymerase Chain Reaction ; RNA Splice Sites

Intestinal malrotation with volvulus is generally presented as a bilious vomiting and acute intestinal obstruction in the newborn period. It could compromise vascular supply of the small bowel secondary to torsion of superior mesenteric artery (SMA) and without urgent surgical management, it could lead to detrimental outcomes such as transmural bowel infarction and sepsis. However, in chronic cases, it is rarely obstructs the vascular supply and propagates to an acute bowel infarction. Rarely, chronic malrotation with midgut volvulus may not reduce the mesenteric blood supply because of collateral vessels, and the chronically stagnated blood flow of the superior mesenteric vein (SMV) favors thrombus formation within the lumen. The recommended treatment is Ladd's procedure and anticoagulation therapy. The authors present an unusual case of intestinal malrotation with chronic volvulus resulting in superior mesenteric vein and portal vein thrombosis in a 28-year-old patient.
Adult ; Humans ; Infant, Newborn ; Infarction ; Intestinal Obstruction ; Intestinal Volvulus ; Mesenteric Artery, Superior ; Mesenteric Veins ; Portal Vein ; Sepsis ; Thrombosis ; Vomiting

OBJECTIVE: To evaluate the efficacy of sonohysterography on exact submucosal myoma. methods: Transvaginal sonohysterography was performed on 45 patients who diagnosed as submucosal myoma and 29 patients who diagnosed as endometrial polyp by classic abdominal or vaginal sonogram, and then they received the diagnostic hysteroscopy at all. RESULTS: In 24 of 45 patients on sonohysterogram, submucosal myoma was diagnosed that was protruded to uterine cavity more than 2/3 of mass. Nine patients had intramural myoma and 12 patients had myoma that protruded only lesser than 1/3 of mass on sonohysterogram. These 21 patients revealed the same finding on hysteroscopy. On hysteroscopy, submucosal myomas were in 20 of 24 patients and polyps were in 3 patients and synechia was in one patients. In 8 of 29 patients on sonohysterogram, endometrial hyperplasia was found and confirmed by hysteroscopy. In 16 of 21 patients whose finding was polyp on sonohsyterogram, polyp was confirmed by hysteroscopy. However hysteroscopic findings were myomas in 3 of 21 patients and synechia in one patients. Therefore in 29 of 74 patients (39.2%), further hysteroscopy was not needed by sonohysterogram. In 65 of 74 patients (87.8%), sonohysterographic findings were same as hysteroscopic findings. CONCLUSION: Sonohysterogram for diagnosis of submucosal myoma and polyp is essential procedure in order to avoid unnecessary hysteroscopy. However differentiation between polyp and submucosal myoma has still some difficulty.
Diagnosis* ; Endometrial Hyperplasia ; Female ; Humans ; Hysteroscopy ; Myoma* ; Polyps

The authors have analyzed the factors influencing the outcome of the 168 patients with acute epidural hematoma who had been managed in our hospital for 3 years from July 1986 to June 1989. 1) Sex incidence showed that male patients were 4.8 times more commonly affected than females, and the most commonly affected age group was the 3rd decade. 2) The most common cause of injury was motor vehicle accidents. The patients with unknown cause of injury which probably suggested significant delay in starting the clinical managements had a higher mortality rate. 3) The most common site of hematoma was the FTP convexity(63.6%). The patients with diffuse hematoma in the fronto-temporo-parietal region had a high mortality and deteriorated level of consciousness. 4) Skull fractures were not seen only in 9.5% of the patients with acute epidural hematoma. 5) The main factors associated with the higher mortality rate were rapid development of hematoma, pupillary dilatation, low score in Glasgow Coma Scale on arrival, and more midline shifting on brain CT. 6) The patients with concomitant intracranial lesions had a high mortality rate(25.8%), and the patients with acute epidural hematoma alone had a low rate(2%), and the overall mortality rate of the patients with acute epidural hematoma was 11.3%.
Brain ; Consciousness ; Dilatation ; Female ; Glasgow Coma Scale ; Hematoma* ; Humans ; Incidence ; Male ; Mortality ; Motor Vehicles ; Skull Fractures

BACKGROUND: Despite numerous investigations, the pathogenesis of Meniere's disease is uncertain. Endolymphatic hydrops (ELH) has been the main histologic finding of Meniere's disease. Experimentally induced ELH in animal model has been developed in order to understand better the consequences of this morphopathology on inner ear structure and function. OBJECTIVES: The aim of this study is to develope the animal model of ELH. MATERIAL AND METHODS: We made an animal endolymphatic hydrops model on giunea pigs by mechanically obliterating the right endolympatic sac and duct. The left ears were used as a controls. RESULTS: After twelve weeks, the temporal bones were prepared for light and electron microscopic examination. The light microscopic study showed the distension and folding of Reissner's membrane, however other pathologic changes were uncertain in hydropic aminal. Under scanning electron microscopic examination, the cellular population of Reissner membrane remained normal but the microvilli of Reissner membrane were significantly decreased in hydrops group. The damage pattern of stereocilia were most severe in the apical turns, followed by the middle and the basal turns, in the order of severeity. The outer hair cell third row was most severely damaged in the entire cochlea, whereas the outer hair cell first row was relatively spared. On the single hair cell examination, abnormal distensions of the tip of stereocilia started from longer stereocilia. The number of microvilli on marginal cell was reduced in stria vascularis, but atrophic change was not observed.
Animals ; Cochlea ; Ear ; Ear, Inner ; Edema ; Endolymphatic Hydrops* ; Guinea Pigs* ; Guinea* ; Hair ; Membranes ; Meniere Disease ; Microvilli ; Models, Animal ; Stereocilia ; Stria Vascularis ; Swine ; Temporal Bone

BACKGROUND: Merkel cell carcinoma (MCC) is a rare locally aggressive cutaneous neuroendocrine carcinoma with a high incidence of local recurrence, regional lymph node metastasis, followed by distant metastasis. Because of shortage of the retrospective study, standard treatment has not been established. The purpose of this study was to present the surgical treatment and outcome of 8 patients with MCC. METHODS: We report our experiences with 8 patients who underwent treatment for MCC at our institution from 2000 through 2012. Two men and 6 women received treatment for MCC. The mean age was 76.4 years (range, 53 to 93 years). RESULTS: The follow-up period ranged from 7 to 26 months (mean, 22.9). During the follow-up period, three of 8 patients had a relapse (mean time before recurrence, 10 months; 1 month, 7 months, and 22 months). After primary surgery, 3 patients underwent radiotherapy, and 1 patient received chemotherapy. CONCLUSION: MCC is an aggressive skin cancer with a high rate of local recurrence. Complete surgical excision is the mainstay of local treatment, but adjuvant radiotherapy should be considered for better local control.
Carcinoma, Merkel Cell ; Carcinoma, Neuroendocrine ; Disease Management ; Female ; Follow-Up Studies ; Humans ; Incidence ; Lymph Nodes ; Male ; Neoplasm Metastasis ; Radiotherapy, Adjuvant ; Recurrence ; Retrospective Studies ; Skin Neoplasms

Epidermolysis bullosa dystrophica is a rare skin disease characterized by milia, nail dystrophy, andblistering of the skin and mucous membranes in response to minimal trauma. A forty years old man had typical skinlesions on the extremities, and the presence of distal phalangeal wedge deformity with soft tissue webbing wasnoted. multiple segmental strictures and ulceration involved the cervical and distal esophagus. Esophageal balloondilatation was therefore performed and dysphagia was relieved. The authors describe a case involving multipleesophageal strictures and musculoskeletal lesion, with clinically and radiologically documented epidermolysisbullosa dystrophica.
Congenital Abnormalities ; Constriction, Pathologic* ; Deglutition Disorders ; Epidermolysis Bullosa Dystrophica* ; Epidermolysis Bullosa* ; Esophagus ; Extremities ; Mucous Membrane ; Skin ; Skin Diseases ; Ulcer

Perforations that occur during colonoscopy are usually managed by surgical repair. When the patient's symptoms are mild and laboratory findings show minor abnormalities, a conservative treatment can be considered. Although an operation is the treatment of choice in patients with generalized peritonitis, in some selected patients, percutaneous abscess drainage can be an alternative to surgical intervention for drainage of deep-infected fluid collections or can act as a temporary measure until the patient becomes sufficiently stable for surgery. We report here on a 53-yr-old male patient who developed signs of localized peritonitis and had a pelvic abscess due to a colonic perforation after colonoscopy and was treated successfully by using percutaneous abscess drainage.
Abscess ; Colon ; Colonoscopy ; Drainage ; Humans ; Male ; Peritonitis

PURPOSE: Certain strains of lactobacilli are known to accelerate recovery from acute diarrhea. Lactobacillus reuteri is isolated from human breast milk and a commonly occurring Lactobacillus species with therapeutic potential in acute diarrhea. The purpose of the present study was to investigate the therapeutic effect of L. reuteri in acute diarrhea in young children. METHODS: Fifty patients between 6 and 36 months of age hospitalized with acute diarrhea (rotavirus in 40 percent) were randomized into two groups to receive either 10 (8) colony-forming units of L. reuteri or a matching placebo, twice a day for their length of hospitalization, or for up to 5 days. Antidiarrheal drugs were not prescribed to either group. The clinical outcome of diarrhea was evaluated. RESULTS: The mean duration of watery diarrhea after initiation of treatment was 2.3 days for the L. leuteri group (n=25) vs. 2.9 days for the placebo group (n=25) (P=0.072). By the second day of treatment, watery diarrhea persisted in 64 percent of patients receiving L. reuteri, compared to 84 percent of those receiving placebo (P=0.006). On the second day, the mean frequency of watery diarrhea was 1.9 in the L. leuteri group and 3.4 in the placebo (P=0.046). Also, vomiting continued to the second day in 16 percent of patients receiving L. reuteri and 40 percent of those recieving placebo (P= 0.031). CONCLUSION: L. reuteri is effective as a therapeutic agent in acute diarrhea in children.
Antidiarrheals ; Child ; Diarrhea* ; Hospitalization ; Humans ; Infant* ; Lactobacillus reuteri* ; Lactobacillus* ; Milk, Human ; Stem Cells ; Vomiting

OBJECTIVE: This study is designed to identify the clinical characteristics and the optimal treatment modality of hydrocephalus in posterior fossa tumors. METHODS: The authors reviewed 154 infratentorial tumor patients. Age, sex, clinical symptoms, types of treatment, and surgical results of posterior fossa tumor patients with hydrocephalus were analyzed, retros-pectively. Factors which might predict the need for external ventricular drainage(EVD) or ventriculo-peritoneal shunt were analyzed statistically. RESULTS: Hydrocephalus was noted in 86 cases(56%), and it was associated with medulloblastoma in 16 cases(89%), hemangioblastoma in 12(63%) and brain stem glioma in three(33%). The surgical results of the posterior fossa tumors with hydrocephalus were poorer than those without hydrocephalus(p<0.05). A large tumor(p<0.05) and an incomplete removal(p<0.05) were factors predicting the need for EVD or shunt. Complications of intraoperative EVD or shunt developed in four cases. They were infection, he-morrhage at puncture site, and obstruction. Five patients in whom intraoperative EVD or shunt had not been performed developed a fatal hydrocephalic attack at immediate postoperative period, and the pos-toperative computed tomography scan revealed intraventricular hemorrhages in three cases cerebellar swellings in two cases. CONCLUSION: Intraoperative EVD or shunt is a safe, effective treatment modality especially in large size tumor and/or incomplete tumor resection. Intraventricular hemorrhages or cerebellar swellings during immediate postoperative period might cause fatal hydrocephalic attack, therefore EVD or shunt might be recommended in selected cases.
Brain Stem ; Glioma ; Hemangioblastoma ; Hemorrhage ; Humans ; Hydrocephalus* ; Infratentorial Neoplasms* ; Medulloblastoma ; Postoperative Period ; Punctures ; Ventriculoperitoneal Shunt