Rett syndrome is progressive neurodegenerative disorder in female patients, characterized by autistic behavior, mental retardation, loss of purposeful hand skills, stereotypic hand movement, breathing dysfunction, severely impaired language, ataxia, and seizure. The diagnosis of Rett syndrome is based on its characteristic clinical manifestation and course. The electroencephalographic (EEG) findings of Rett syndrome are nonspecific, but a progressive deterioration in the EEG, characterized by a slowing of background activity and spike sharp wave discharges, may be observed. We experienced one case of Rett syndrome in a 5 year old girl having mental retardation, loss of purposeful hand skills, stereotypic hand movements (clapping, washing, hand-to-mouth), breathing dysfunction (hyperventilation/apnea). Her EEG findings on Video-EEG monitoring are excessive slowing waves during awake state and frequent spike discharges from left or centrotemporal area during sleeping. We report a case of Rett syndrome with brief review of related literatures.
Ataxia ; Child, Preschool ; Diagnosis ; Electroencephalography ; Female ; Hand ; Humans ; Intellectual Disability ; Neurodegenerative Diseases ; Respiration ; Rett Syndrome* ; Seizures

To evaluate pathophysiology of Hyperlaxity of conjunctiva which induces itching, tearing and foreign body sensation, we examed conjunctival specimens of 11 hyperlaxity of conjunctiva patients, 13 pterygium, and 10 normal controls. It is hypothesized that mast cells may influence subconjunctival connective tissue for loosening, long standing edema and induce irreversible tissue destruction during the delelpoment of hyperlaxity of conjunctiva. We did the histologic evaluation, toluidine blue staining for counting mast cells in submucosal connective tissue and alcian blue/safranin staining for distinguisment of two phenotypes of mast cells(1. connective tissue mast cell(CTMC) 2. mucosal mast cell(MMC). We also compared it`s count, distributions with each groups. In normal specimens, the mean mast cell count was 3.5 and CTMC/MMC ratio was 2.0, whereas significant increase was noted in hyperlaxity of conjunctiva patients. Mast cell count and CTMC/MMC ratio were 13.5 and 5.5, in pterygium patients, 11.6 and 5.1 respectively. This result indicates that hyperlaxity of conjunctiva was closely related to the action of mast cell especially CTMC, which may destruct conjunctival architecture. Further evaluation is needed to reveal the role of mast cell in ocular surface disorders.
Conjunctiva* ; Connective Tissue ; Edema ; Foreign Bodies ; Humans ; Mast Cells* ; Phenotype ; Pruritus ; Pterygium ; Sensation ; Tears ; Tolonium Chloride

BACKGROUND: The prevalence of extended-spectrum beta-lactamase (ESBL)-producing Escherichia coli is increasing rapidly worldwide. Treatment options for ESBL-producing E. coli are limited, and infections caused by this organism are associated with improper antibiotic use, a long hospital stay, and increased mortality. Thus, the assessment and early recognition of the risk factors of nosocomial infections due to ESBL-producing E. coli are important for the infection control and proper treatment. METHODS: A case-control study was performed that included nosocomial episodes of ESBL-producing E. coli bacteremia at a tertiary care hospital from January 2004 to December 2007. For each case patient, three controls were randomly selected and data on predisposing factors were collected. RESULTS: Fifty-five cases of nosocomial ESBL-producing E. coli bacteremia were studied. Carbapenem usage (OR: 11.3, 95% CI: 1.1-115.9, p=0.041), quinolone usage (OR: 4.5, 95% CI: 1.1-18.8, p=0.042), biliary obstructive disease (OR: 11.8, 95% CI: 3.0-46.7, p<0.001) and the APACHE II score (OR: 1.3, 95% CI: 1.2- 1.5, p<0.001) were analyzed as independent risk factors of nosocomial ESBL-producing E. coli bacteremia. CONCLUSION: Our results showed that physicians caring for patients with risk factors of nosocomial bacteremia should consider ESBL-producing E. coli as the causative organisms of the disease.
APACHE ; Bacteremia* ; beta-Lactamases* ; Case-Control Studies ; Causality ; Cross Infection ; Escherichia coli* ; Escherichia* ; Humans ; Infection Control ; Length of Stay ; Mortality ; Prevalence ; Risk Factors* ; Tertiary Healthcare

BACKGROUND: The prevalence of extended-spectrum beta-lactamase (ESBL)-producing Escherichia coli is increasing rapidly worldwide. Treatment options for ESBL-producing E. coli are limited, and infections caused by this organism are associated with improper antibiotic use, a long hospital stay, and increased mortality. Thus, the assessment and early recognition of the risk factors of nosocomial infections due to ESBL-producing E. coli are important for the infection control and proper treatment. METHODS: A case-control study was performed that included nosocomial episodes of ESBL-producing E. coli bacteremia at a tertiary care hospital from January 2004 to December 2007. For each case patient, three controls were randomly selected and data on predisposing factors were collected. RESULTS: Fifty-five cases of nosocomial ESBL-producing E. coli bacteremia were studied. Carbapenem usage (OR: 11.3, 95% CI: 1.1-115.9, p=0.041), quinolone usage (OR: 4.5, 95% CI: 1.1-18.8, p=0.042), biliary obstructive disease (OR: 11.8, 95% CI: 3.0-46.7, p<0.001) and the APACHE II score (OR: 1.3, 95% CI: 1.2- 1.5, p<0.001) were analyzed as independent risk factors of nosocomial ESBL-producing E. coli bacteremia. CONCLUSION: Our results showed that physicians caring for patients with risk factors of nosocomial bacteremia should consider ESBL-producing E. coli as the causative organisms of the disease.
APACHE ; Bacteremia* ; beta-Lactamases* ; Case-Control Studies ; Causality ; Cross Infection ; Escherichia coli* ; Escherichia* ; Humans ; Infection Control ; Length of Stay ; Mortality ; Prevalence ; Risk Factors* ; Tertiary Healthcare

The primary cause of tooth loss after 30 years of age is periodontal disease. Destruction of alveolar bone by periodontal disease is done by bone resorbing activity of osteoclasts. Understanding differentiation and activation mechanism of osteoclasts is essential for controling periodontal disease. The purpose of this study is to identify the possible effects of Vitamin D and cytokines affecting osteoclasts and its precursor cells. Four to six week-old mice were killed and humerus, radius, tibia and femur were removed aseptically and washed two times with Hank's solution containing penicillin-streptomycin and then soft tissue were removed. Bone marrow cells were collected by 22 gauge needle. Cells were cultured in Hank's solution containing 1 mg/ml type II collagenase, 0.05% trypsin, 4mM EDTA. Supernatant solution was removed 5 times after 15 minutes of digestion with above mentioned enzyme solution, and remained bone particles were maintained in alpha-MEM for 15 minutes and 4degrees C temperature. Bone particles were agitated for 1 minute and supernatant solution containing osteoclast precursor cells were filtrated with cell stainer. These separated osteoclast precursor cells were dispensed with 100-mm culture dish by 1x10(7) cells unit and cultured in alpha-MEM containing 20 ng/ml recombinant human M-CSF, 30 ng/ml recombinant human soluble osteoclast differentiation factor and 10% fetal calf serum for 2 and 7 days. Total RNA of osteoclast precursor cells were extracted using RNeasy kit. One microgram of total RNA was reverse transcribed in 42degrees C for 30 minutes using SuperScriptII reverse transcriptase. Expression of transcribed receptors of each hormone and cytokine were traced with 1 microliter of cDNA solution by PCR amplification. Vitamin D receptor was found in cells cultured for 7 days. TNF-alphareceptor was found in cells cultured for 2 days and amount of receptors were increased by 7 days. IL-1 type I receptor was not found in cells cultured 2 and 7 days. But, IL-1 receptor type II was found in cells cultured for 2 days. TGF-alpha,betatype I receptor was found in cells cultured 2 and 7 days, and amount of receptors were increased by 7 days of culture. These results implies Vitamin D and cytokines can affect osteoclasts directly, and affecting period in differentiation cycle of osteoclasts is different by Vitamin D and cytokines.
Animals ; Bone Marrow Cells ; Collagenases ; Cytokines* ; Digestion ; Dihydroergotamine ; DNA, Complementary ; Edetic Acid ; Femur ; Humans ; Humerus ; Interleukin-1 ; Macrophage Colony-Stimulating Factor* ; Mice ; Needles ; Osteoclasts* ; Periodontal Diseases ; Polymerase Chain Reaction ; Radius ; RANK Ligand ; Receptors, Calcitriol ; RNA ; RNA-Directed DNA Polymerase ; Tibia ; Tooth Loss ; Trypsin ; Vitamin D* ; Vitamins*

Periampullary diverticulum is commonly found during endoscopy and can occur at any age although its prevalence increases with age. Periampullary diverticular bleeding is a rare and difficult to diagnose during clinical practice because of its unique appearance and location. This often can lead to massive bleeding and interfere with adequate bleeding control. Endoscopic management on duodenal diverticular bleeding is limited compared to colonic diverticular bleeding due to lack of experience. Herein, we report a case of active bleeding from a periampullary diverticulum during bile duct stone extraction diagnosed by side-viewing endoscope and successfully controlled using hemoclips without any complications.
Aged ; Ampulla of Vater/surgery ; Cholangiopancreatography, Endoscopic Retrograde ; Diverticulum/*diagnosis/surgery ; Gastrointestinal Hemorrhage/etiology/*therapy ; Humans ; Male ; Surgical Instruments ; Tomography, X-Ray Computed

Systemic lupus erythematosus (SLE) is an autoimmune disorder involving multiple organs. Neuropsychiatric symptoms are frequently associated in SLE, which is referred to as neuropsychiatric SLE (NPSLE). NPSLE contains both central and peripheral nervous systems, which includes transverse myelitis, and Guillain-Barre syndrome (GBS). We report our experience of concurrent manifestation of transverse myelitis and GBS as an initial presentation of SLE, which suggests the common immune-mediated mechanisms of diseases. We here report the case of a 14-year-old boy with SLE who first presented with features of GBS. The patient developed ascending weakness starting from low extremities, experienced difficulty voiding, and had a facial rash. An initial diagnosis of GBS was made on the basis of clinical findings and nerve conduction studies. But he did not respond to intravenous immunoglobulin therapy and following spine MRI displayed T2 weighted high signal intensities from the cervical to thoracic region of the spinal cord, and serological analysis revealed the presence of anti-dsDNA, anti-smAb, anti nuclear antibody with decreased level of complements. The diagnosis was revised to GBS and acute transverse myelitis resulting from SLE. Additional methylprednisolone pulse therapy led to rapid clinical improvement. This was followed by oral prednisolone and cyclophosphamide pulse therapy. This is the first case of concurrent manifestation of GBS and transverse myelitis as initial presentation of SLE. The cross-reactivity of autoantibodies and increased susceptibility to infection owing to immunologic changes associated with lupus may form the basis of the association. Clinicians should consider a diagnosis of SLE as an etiology of GBS or transverse myelitis.
Adolescent ; Autoantibodies ; Complement System Proteins ; Cyclophosphamide ; Exanthema ; Extremities ; Guillain-Barre Syndrome ; Humans ; Immunization, Passive ; Lupus Erythematosus, Systemic ; Methylprednisolone ; Myelitis, Transverse ; Neural Conduction ; Peripheral Nervous System ; Prednisolone ; Spinal Cord ; Spine

Tuberculous involvement of the colon is an uncommon clinical entity. Other colonic disease which should be considered in the differential diagnosis include inflammatory bowel disease such as Crohn's disease, ulcerative colitis and colon cancer. Intestinal tuberculosis most frequently involves the ileocecal area. The common presenting symptoms are abdominal pain, fever, weight loss and malabsorption. Pathologically, tuberculous colitis may present as an ulcerative type, hypertrophic type or in combination. Massive bleeding is said to be very rare even in the ulcerative type because of an obliterative endarteritis. We report a case of colonic tuberculosis presenting with massive bleeding in 52-year-old man with alcoholic liver cirrhosis, which was diagnosed by colonoscopic biopsy and acid-fast stain.
Abdominal Pain ; Biopsy ; Colitis ; Colitis, Ulcerative ; Colon* ; Colonic Diseases ; Colonic Neoplasms ; Crohn Disease ; Diagnosis, Differential ; Endarteritis ; Fever ; Hemorrhage* ; Humans ; Inflammatory Bowel Diseases ; Liver Cirrhosis, Alcoholic ; Middle Aged ; Tuberculosis* ; Ulcer ; Weight Loss

Kaposi's sarcoma is a rare and slowly progressive disease that primarily affects the skin but has an associated visceral involvement. It can occur in the HIV-positive patients or patients treated with immunosuppressants. However, it is extremely rare in the patients receiving the treatment for inflammatory bowel disease. We used corticosteroid for the treatment of ulcerative colitis in 60-year-old woman. Then, Kaposis's sarcoma occured in the skin and colon of the patient. Since she was HIV-negative, we believed that it was developed from the condition of corticosteroid-induced immunosuppression. We present a case of skin and colonic Kaposi's sarcoma in a HIV-negative woman following treatment with corticosteroid for ulcerative colitis.
Aged ; Colitis, Ulcerative/*complications/drug therapy ; Colonic Neoplasms/*complications/diagnosis ; English Abstract ; Female ; Humans ; Sarcoma, Kaposi/*complications/diagnosis ; Skin Neoplasms/*complications/diagnosis

PURPOSE: To evaluate a role as over 35 years, maternal serum markers, and a false positive screen for Down syndrome were the predictor of adverse pregnancy outcome. Materials and METHODS: From Mar.1994, through Feb.1996, 5284 women were screened triple test to detect Down syndrome in the second trimester and were delivered Samsung Cheil hospital. The values of each maternal serum markers were measured with radioimmunoassay. And then, the screen positive of Down syndrome was calculated using alpha-software Version 4.0. The adverse outcome of the fetus and the mother included low birth weight(LBW) ( <2500gm), prematurity( <37 gestational weeks), placenta previa, preterm premature rupture of membranes(PPROM), pregnancy induced hypertension(PIH),abruptio placenta, and intrauterine fetal death(IUFD). The predictor markers included over 35years, elevated alpha-fetoprotein (AFP), elevated human chorionic gonadotropin(hCG), lowered unconjugated estriol (uE3), and a false positive screen for Down syndrome. RESULTS: Mean age and mean gestational weeks in the study were 30+/-4.8 years and 17.1 weeks respectively. The adverse pregnancy outcomes were 357 LBW(6.8%), 253 prematurity(4.8%), 108 placenta previa(2.0%), 68 PPROM(1.3%), 66 PIH(1.3%), 24 abruptio placenta(0.5%), and 20 IUFD(0.4%). In univariate analysis, over 35 years was significantly associated with abruptio placenta, prematurity, and placenta previa, elevated MS-AFP( >2.0 MoM) associated with IUFD, LBW, PIH, prematurity, and PPROM , elevated MS-hCG (>3.0 MoM) associated with IUFD, LBW, PIH, prematurity, and placenta previa, lowered uE3 (<0.75) associated with IUFD, abruptio placenta, LBW, and prematurity.(P <0.05). In multivariate logistic regression analysis, IUFD was significantly associated with only elevated MS-AFP, LBW associated with elevated MS-AFP, elevated MS-hCG, and lowered uE3, PIH associated with only elevated MS-AFP, PPROM only elevated MS-AFP, prematurity only elevated MS-AFP, and placenta previa over 35 years, elevated MS-hCG.(P <0.05). However, abruptio placenta was not significantly associated with predictor markers.(P >0.05) CONCLUSIONS: Some predictors such as over 35 year, elevated hCG, lowered uE3, a false positive screen for Down syndrome were significantly associated with adverse pregnancy outcome. Also in multivariate analysis, we identified especially elevated AFP to be the most reliable predictor for adverse pregnancy outcome.
alpha-Fetoproteins ; Biomarkers ; Chorion ; Down Syndrome ; Estriol ; Female ; Fetus ; Humans ; Logistic Models ; Mothers ; Multivariate Analysis* ; Parturition ; Placenta ; Placenta Previa ; Pregnancy ; Pregnancy Outcome* ; Pregnancy Trimester, Second ; Pregnancy* ; Radioimmunoassay ; Rupture