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*

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

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

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

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

BACKGROUND: The diagnosis of catheter-related bloodstream infection (CRBSI) should demonstrate catheter colonization of the same organism as the isolate from peripheral blood cultures, by catheter tip culture or by differential time to positivity (DTP) of catheter-drawn blood cultures versus peripheral blood cultures. The purpose of this study was to compare the sonication and the roll-plate methods of catheter tip culture. METHODS: One hundred and sixty-one catheter tips from 122 patients were submitted for catheter tip culture. Distal segments of the catheter were first inoculated using a roll-plate, and then inoculated by sonication. Sonication was performed using a BactoSonic device (Bandelin GmbH, Germany). A total of 1,018 sets of blood cultures from 7 days before to 1 day after catheter removal were analyzed for isolated organisms and DTP. Cutoffs of catheter colonization were > or =15 CFU for the roll-plate method, > or =100 CFU for sonication, and > or =2 h for DTP. RESULTS: Twenty-four catheter tips (14.9%) showed colonization with at least one of the two methods: 21 (13.0%) with the roll-plate method and 22 (13.7%) with sonication. The positivity rates for the two methods showed no significant difference, and the concordance rate for the two methods was 96.9% (k=0.866, P<0.001). Blood culture was positive in 56 episodes in 44 patients, and 14 episodes of CRBSI were diagnosed in 12 patients: 10 by tip culture (two by sonication only) and 8 by DTP. Of the 122 specimens that were negative according to both methods, 4 were from the episodes of CRBSI diagnosed by DTP. CONCLUSION: Roll-plate and sonication methods are comparable in diagnostic sensitivity for catheter colonization. The roll-plate and sonication catheter tip culture methods and DTP are complementary for diagnosis of CRBSI.
Catheters* ; Central Venous Catheters ; Colon ; Diagnosis* ; Humans ; Sonication*