We have experienced a case of 13 ring chromosome in a 40-month-old girl who demonstrated psychomotor retardation with delayed speech, growth retardation, hearing loss(left), microcephaly, trigonocephaly with flat occiput, hypertelorism, epicanthal folds, microophthalmia, broad prominamt nasal bridge, high arched palate, micrognathia, large auricles and other anomalies. Cytogenetic studies of peripheral blood lymphocytes with differential staining of chromosomes revealed 46, XX, r13. Her parents' karyotypes were normal. We reported the case with the review of the associated literatures.
Child, Preschool ; Craniosynostoses ; Cytogenetics ; Female ; Hearing ; Humans ; Hypertelorism ; Karyotype ; Lymphocytes ; Microcephaly ; Palate ; Ring Chromosomes*

STUDY DESIGN: We report two cases of symptomatic spinal epidural lipomatosis (SEL) associated with long-term use of steroid medication OBJECTIVES: The purpose of this study was to assess the clinical characteristics, diagnosis and treatment of symptomatic spinal epidural lipomatosis. SUMMARY OF LITERATURE REVIEW: Spinal epidural lipomatosis is a condition in which excess adipose tissue is deposited circumferentially about the spinal cord in the epidural space. It can present neurologic symptoms including back pain, radiculopathy or cauda equina. Magnetic resonance imaging is the most helpful dignostic means and should be used initially if suspected. Treatment is decompressive laminectomy and debulking of fat. MATERIALS AND METHODS: Two cases of lumbar epidural lipomatosis with neurologic symptoms were discussed and evaluated by physical examination, postmyelography CT and MRI. RESULTS: Two cases were treated with decompressive laminectomy and debulking of fat. Increased accumulation of the fatty tissue was seen predominently in posterior and posterolateral epidural space of the spinal canal, displacing and compressing the lumbar spinal cord anteriorly. Both gross and histologic evaluation revealed overgrowth of unencapsulated normal appearing fat consistent with spinal epidural lipomatosis. One case was demonstrated gradual improvement in symtoms after operation but the other was died due to medical problems. CONCLUSION: The authors reviewed the literature and reported the results of operative treatment of patients with lumbago, radicular pain and intermitent claudication caused by epidural lipomatosis of lumbar spine and degenerative spinal stenosis.
Adipose Tissue ; Back Pain ; Cauda Equina ; Diagnosis ; Epidural Space ; Humans ; Laminectomy ; Lipomatosis* ; Low Back Pain ; Magnetic Resonance Imaging ; Neurologic Manifestations ; Physical Examination ; Radiculopathy ; Spinal Canal ; Spinal Cord ; Spinal Stenosis ; Spine

No abstract available in English.
Clinical Study ; Spondylolisthesis

PURPOSE: To evaluate the necessity for repair of associated deltoid ligament rupture in lateral malleolar fracture. MATERIALS AND METHODS: Twenty of twenty-five patients were evaluated. Each received surgical treatment without repair of the ruptured deltoid ligament. We found that the medial clear space was widened more than 5 mm in intraoperative stress tests which had been done between May 2003 and June 2008. We did follow-up on these patients for more than 1 year after surgery. At the final follow-up, radiologic and clinical assessment were evaluated on plain X-ray and according to Olerud Molander ankle scores. RESULTS: Open reduction and internal fixation of the lateral malleolar was done in all cases and an additional transfixation screw was needed in 17 patients who had concurrent syndesmotic disruption. Average medial clear space widening before surgery was 9.28 mm (7.0-17.14 mm), at final follow-up time it was 3.43 mm (2.9-5.28 mm). And there were 8 (40%) good, 10 (50%) fair and 2 (10%) poor ratings on radiologic evaluation, but the mean clinical score was 93.75, with 17 (85%) being excellent, 2 (10%) good and 1 (5%) fair on clinical evaluation. CONCLUSION: In the treatment of lateral malleolus fracture associated with disruption of the deltoid ligament, satisfactory clinical results could be obtained including lateral joint stability, with accurate anatomical reduction and internal fixation of the lateral malleolus and distal tibio-fibular joints. Medial joint stability could be obtained without deltoid ligament repair.
Animals ; Ankle ; Exercise Test ; Follow-Up Studies ; Humans ; Joints ; Ligaments ; Rupture

OBJECTIVES: The purpose of this study is to examine whether the neurocognitive deficits of schizophrenia may be associated with certain features of symptomatology or a stable vulnerability of disease itself. METHOD: The 42 schizophrenic patients and 35 matched normal controls with sex, age, and education level were examined for their sustained attention, sensory register, executive function, concentration and attention, and verbal memory and learning in the acute and remitted stages of schizophrenia using Degraded Stimulus Continuous Performance Test, Span Apprehension Task, Wisconsin Card Sorting Test, Digit Span, and Rey Auditory Verbal Learning Test, respectively. RESULTS: The schizophrenic patients showed significant deficits in the sustained attention, sensory register, executive function, and verbal memory and learning compared with the normal controls in both acute and remitted stages of schizophrenia. Regarding the concentration and attention, the schizophrenic patients showed significant deficits in the backward digit span compared with the normal controls during acute stages, but there was no difference between two groups in the forward and backward digit span during remitted stages. No difference was evident in the sustained attention, sensory register, executive function, and verbal memory and learning between acute and remitted stages of schizophrenia. But the forward and backward digit span of schizophrenic patients showed significant improvement in the remitted stages compared with acute stages. CONCLUSIONS: The sustained attention and sensory register deficits in the visual information processing associated with schizophrenia, detected by high-processing-load version of the Degraded Stimulus Continuous Performance Test and Span Apprehension Task, are highly possible to be stable vulnerability indicators. Executive functioning deficit in the schizophrenic patients detected by Wisconsin Card Sorting Test is not likely to be dependent on symptoms, so it is difficult to conclude that it is a stable vulnerability indicators of schizophrenia. In the digit span task, the forward digit span is more likely to be a episodic indicator but the backward digit span is likely to be a mediating vulnerability indicator. And the forward and backward digit span tasks seem to be tap different cognitive abilities that are differentially associated with the diathesis for schizophrenia. Some forms of the verbal memory and learning deficits associated with schizophrenia appear to be a stable vulnerability indicators.
Automatic Data Processing ; Disease Susceptibility ; Education ; Executive Function ; Humans ; Learning ; Memory ; Negotiating ; Schizophrenia* ; Verbal Learning ; Wisconsin

PURPOSE: Cerebral contusion is often associated with delayed edema, ischemia, demyelination, and secondary impairment in the neurological function. Early prediction of the outcome for patients with diverse critical illnesses has long been a concern of intensive care unit physicians. Recently, the systemic release of host-derived inflammatory mediators has been used for prognosis assessment in patients with multiple infections, burn injury, and systemic infection. Experimental investigations have revealed the importance of free radicals and calcium currents in cellular damage. Also experimental injuries have caused an early production of cytokines. This study was undertaken to analyze the production of interleukin-6 in the brain and in plasma following a brain contusion. METHODS: Sixty male Sprague-Dawley (SD) rats, each weighing 300-350 g were used in an experimental group following brain contusion, and 18 SD rats were used as a control group following a sham operation. Intracerebral IL-6 and plasma IL-6 were measured by using the ELISA method with a rat IL-6 kit at 3, 6, 24, 48, and 72 hours after the brain contusion. After contusion, the brains were fixed by perfusion via the carotid artery with 40% formaldehyde, glacial acetic acid, and 100% ethanol (1:1:8) at a flow rate of 25 ml/min and stained with hematoxylin and eosin for histologic examination. RESULTS: Brain IL-6 levels increased to reach a maximum of 160.23 pg/ml, at 6 hour after brain trauma. Plasma IL-6 levels increased to 70.02 pg/ml at 3 hour following brain contusion. CONCLUSION: The elevated brain IL-6 level in the injured rat does not seem to reflect a systemic inflammation. Although plasma IL-6 is detected in the sham-operated and the traumatized rats, the levels are too low to account for the increase observed in the brain cortex. This finding shows that the increase in brain IL-6 is related to the dynamics of brain contusion.
Acetic Acid ; Animals ; Brain Injuries* ; Brain* ; Burns ; Calcium ; Carotid Arteries ; Contusions ; Critical Illness ; Cytokines ; Demyelinating Diseases ; Edema ; Enzyme-Linked Immunosorbent Assay ; Eosine Yellowish-(YS) ; Ethanol ; Formaldehyde ; Free Radicals ; Hematoxylin ; Humans ; Inflammation ; Intensive Care Units ; Interleukin-6* ; Ischemia ; Male ; Perfusion ; Plasma ; Prognosis ; Rats* ; Rats, Sprague-Dawley

BACKGROUND: The incidence and etiology of facial bone fracture differ widely according to time and geographic setting. Because of this, prevention and management of facial bone fracture requires ongoing research. This study examines the relationship between socioeconomic status and the incidence of facial bone fractures in patients who had been admitted for facial bone fractures. METHODS: A retrospective study was performed for all patients admitted for facial bone fracture at the National Medical Center (Seoul, Korea) from 2010 to 2014. We sought correlations amongst age, gender, fracture type, injury mechanism, alcohol consumption, and type of medical insurance. RESULTS: Out of the 303 patients meeting inclusion criteria, 214 (70.6%) patients were enrolled in National Health Insurance (NHI), 46 (15.2%) patients had Medical Aid, and 43 (14.2%) patients were homeless. The main causes of facial bone fractures were accidental trauma (51.4%), physical altercation (23.1%), and traffic accident (14.2%). On Pearson's chi-square test, alcohol consumption was correlated significantly with accidental trauma (p<0.05). And, the ratio of alcohol consumption leading to facial bone fractures differed significantly in the homeless group compared to the NHI group and the Medical Aid group (p<0.05). CONCLUSION: We found a significant inverse correlation between economic status and the incidence of facial bone fractures caused by alcohol consumption. Our findings indicate that more elaborate guidelines and prevention programs are needed for socioeconomically marginalized populations.
Accidents, Traffic ; Alcohol Drinking ; Facial Bones* ; Humans ; Incidence ; Insurance ; National Health Programs ; Retrospective Studies* ; Social Class*

BACKGROUND: The dissemination of metallo-beta-lactamase (MBL) producing gram-negative bacilli is of great concern because MBL can hydrolyze carbapenem. We report herein the infection by VIM-2 type MBL producing Achromobacter xylosoxidans subsp. xylosoxidans. MATERIALS AND METHODS: For seven A. xylosoxidans subsp. xylosoxidans with reduced imipenem susceptibility, the detection for MBL was performed using EDTA double disk synergy test (EDTA- DDS) and the PCR for IMP-1, VIM-1 and VIM-2 genes. The minimal inhibitory concentration (MIC) of MBL producers were determined by microbroth dilution methods. The DNA fingerprinting analysis was performed by random amplified polymorphic DNA. RESULTS: All seven isolates were MBL producers when tested with EDTA-DDS test and these isolates were VIM-2 type confirmed by the PCR and DNA sequencing analysis. The MIC against imipenem ranged from 16 to 32 microgram/mL in these isolates. The DNA fingerprints of these isolates were identical. CONCLUSION: A. xylosoxidans subsp. xylosoxidans manifest resistance against imipenem by acquisition of VIM-2 type MBL. To our knowledge, this is the first report on the VIM-2 type MBL producing A. xylosoxidans subsp. xylosoxidans.
Achromobacter denitrificans* ; Achromobacter* ; DNA ; DNA Fingerprinting ; Edetic Acid ; Imipenem ; Polymerase Chain Reaction ; Sequence Analysis, DNA

BACKGROUND: The dissemination of metallo-beta-lactamase (MBL) producing gram-negative bacilli is of great concern because MBL can hydrolyze carbapenem. We report herein the infection by VIM-2 type MBL producing Achromobacter xylosoxidans subsp. xylosoxidans. MATERIALS AND METHODS: For seven A. xylosoxidans subsp. xylosoxidans with reduced imipenem susceptibility, the detection for MBL was performed using EDTA double disk synergy test (EDTA- DDS) and the PCR for IMP-1, VIM-1 and VIM-2 genes. The minimal inhibitory concentration (MIC) of MBL producers were determined by microbroth dilution methods. The DNA fingerprinting analysis was performed by random amplified polymorphic DNA. RESULTS: All seven isolates were MBL producers when tested with EDTA-DDS test and these isolates were VIM-2 type confirmed by the PCR and DNA sequencing analysis. The MIC against imipenem ranged from 16 to 32 microgram/mL in these isolates. The DNA fingerprints of these isolates were identical. CONCLUSION: A. xylosoxidans subsp. xylosoxidans manifest resistance against imipenem by acquisition of VIM-2 type MBL. To our knowledge, this is the first report on the VIM-2 type MBL producing A. xylosoxidans subsp. xylosoxidans.
Achromobacter denitrificans* ; Achromobacter* ; DNA ; DNA Fingerprinting ; Edetic Acid ; Imipenem ; Polymerase Chain Reaction ; Sequence Analysis, DNA

PURPOSE: Liver-directed gene therapy is being actively pursued and developed as a method of treating various liver diseases. A number of aspects, including gene intervention, an efficient gene delivery system, and stable transgene expression are key to the success of the chosen strategy, and to overcome problems in these areas, several tactics can be used. In this study, we assess the utility of transarterial embolization using gelfoam particles soaked in an adenovirus vector as a gene-delivery method. MATERIALS AND METHODS: Using the angiographic approach, three dogs each weighing 9.5-11 kg were superselectively catheterized at the left hepatic artery using a 3-F microcatheter and the coaxial method. Two of the dogs were embolized at the left hepatic artery using 3x2x2-mm and 2x1x1-mm gelfoam particles soaked in 2x1011 particles/kg of recombinant adv.CMV.LacZ (LacZ-adv). The left hepatic artery of the remaining animal, used as a control, was infused with the same dose of lacZ-adv in the same way as before but without embolization of the left hepatic artery. Three days after embolization or the infusion of LacZ-adv, the dogs were sacrificed prior to harvest of the entire liver for the evaluation of gene transduction. RESULTS: X-gal staining of the liver tissue obtained was positive for hepatocytes, but the pattern and degree of gene transduction differed according to gelfoam particle size. Where this was 3x2x2 mm, gene transduction along the liver hilum varied, but where 2x1x1-mm particles were used, transduction was more even. No pathologic hepatic tissue injury or inflammation was apparent, and control liver tissue was not stained by Xgal. Serum SGOT and SGPT levels were slightly higher one day after the procedure, but had normalized by day 3. CONCLUSION: Intrahepatic transarterial embolization using gelfoam particles soaked in LacZ-adv appears to be a good method for effective liver-targed gene therapy.
Adenoviridae ; Alanine Transaminase ; Animals* ; Aspartate Aminotransferases ; Catheters ; Dogs* ; Gelatin Sponge, Absorbable* ; Gene Transfer Techniques ; Genetic Therapy* ; Hepatic Artery ; Hepatocytes ; Inflammation ; Liver ; Liver Diseases ; Particle Size ; Transgenes