Adrenoleukodystrophy is an inborn error of metabolism characterized by adrenal insufficiency and progressive demyelmation of brain white matter and peripheral nerves. Authors experienced three cases of adrenoleukodystrophy in a 7 year old boy, a 17 and a 210 year old males that were diagnosed by increased plasma content of very long chain fatty acid(VLCFA). The clinical symptoms include seizure, visual impairment, and hemiparesis. Two cases showed typical radiological findings and sural nerve biopsy was performed in one.
Adrenal Insufficiency ; Adrenoleukodystrophy* ; Biopsy ; Brain ; Child ; Humans ; Male ; Metabolism ; Paresis ; Peripheral Nerves ; Plasma ; Seizures ; Sural Nerve

PURPOSE: We encountered a rare case of optic neuritis that developed in a sphenoid sinusitis. This case has not been reported at any of the Korean Ophthalmological Society meetings. CASE SUMMARY: A 12-year-old boy with swollen optic disc was diagnosed with optic neuritis secondary to sphenoid sinusitis, through orbit MRI (magnetic resonance imaging) and paranasal sinus CT (computed tomography). We observed the recovery of visual acuity and the improvement of papilledema after treatment. In the initial examination, the BCVA (best-corrected visual acuity) of the right eye was only hand movement. Papilledema was detected by ophthalmoscopy. Orbit MRI and paranasal sinus CT were then performed, which revealed that sphenoid sinusitis had invaded the right optic nerve. Treatment included the use of antibiotics, systemic steroid therapy, and endoscopic sinus surgery. One month after treatment, the BCVA of the right eye was 1.0 and the papilla of right eye had a normal ophthalmoscopic finding. CONCLUSIONS: Sphenoid sinusitis can be a cause of optic neuritis. The treatment of optic neuritis caused by paranasal sinusitis must include antibiotics use or endoscopic sinus surgery to remove the sinus inflammation as well as high dose steroid therapy.
Anti-Bacterial Agents ; Child ; Hand ; Humans ; Inflammation ; Magnetic Resonance Imaging ; Male ; Ophthalmoscopy ; Optic Nerve ; Optic Neuritis* ; Orbit ; Papilledema ; Sinusitis ; Sphenoid Sinus* ; Sphenoid Sinusitis* ; Visual Acuity

The purpose of this study was to compare pharmacokinetic (PK) parameters obtained using two newly developed assays,HPLC-UV and UPLC-ESI-MS/MS.Selection of assay and results obtained therefrom are very important in PK studies and can have a major impact on the PK-based clinical dose and usage settings.For this study,we developed two new methods that are most commonly used in biosample analysis and focused on PK parameters obtained from them.By HPLC-UV equipped with a Luna-C8 column using UV detector,cefprozil diastereomers were separated using water containing 2％ (V/V) acetic acid and acetonitrile as a mobile phase.By UPLC-ESI-MS/MS equipped with a HALO-C18column,cefprozil diastereomers were separated using 0.5％ (V/V) aqueous formic acid containing 5 mM ammonium-formate buffer and methanol as a mobile phase.Chromatograms showed high resolution,sensitivity,and selectivity without interference by plasma constituents.Both intra-and inter-day precisions (CV,％)were within 8.88％ for HPLC-UV and UPLC-ESI-MS/MS.Accuracy of both methods was 95.67％-107.50％.These two analytical methods satisfied the criteria of international guidance and could be successfully applied to PK study.Comparison of PK parameters between two assays confirmed that there is a dif-ference in the predicted minimum plasma concentrations at steady state,which may affect clinical dose and usage settings.Furthermore,we confirmed possible correlation between PK parameters and various biochemical parameters after oral administration of 1000 mg cefprozil to humans.

BACKGROUND/AIMS: Encapsulating peritoneal sclerosis (EPS) is an often-fatal complication of long-term peritoneal dialysis (PD). We here report the clinical features of EPS in Korean PD patients from a single university center. METHODS: The data were collected retrospectively from 606 PD patients at Kyungpook National University Hospital, between August 2001 and August 2011. The diagnosis of EPS was based on clinical signs and symptoms, and confirmed by radiological findings. RESULTS: Eight patients (1.3%, four males) were diagnosed with EPS. The mean age of the patients was 48.5 years (range, 33 to 65). The mean duration of PD was 111.8 months (range, 23 to 186). All patients except for one had three or more episodes of peritonitis. Seven patients were diagnosed with EPS after stopping PD, and only one stayed on PD after initial diagnosis and treatment. Total parenteral nutrition and corticosteroids, in addition to tamoxifen therapy, were used to treat most of the patients, and one patient underwent surgery (adhesiolysis). The overall mortality rate was 50%. CONCLUSIONS: EPS is a serious, life-threatening complication in patients on long-term PD. To reduce the incidence and mortality rate of EPS, careful monitoring and early diagnosis is needed.
Adrenal Cortex Hormones/therapeutic use ; Adult ; Aged ; Female ; *Hospitals, University ; Humans ; Male ; Middle Aged ; Parenteral Nutrition, Total ; Peritoneal Dialysis/*adverse effects/mortality ; *Peritoneal Fibrosis/diagnosis/etiology/mortality/therapy ; *Peritonitis/diagnosis/etiology/mortality/therapy ; Republic of Korea ; Retrospective Studies ; Tamoxifen/therapeutic use ; Time Factors ; Tomography, X-Ray Computed ; Treatment Outcome

In vivo electroporation has emerged as a leading technology for developing nonviral gene therapies, and the various technical parameters governing electroporation efficiency have been optimized by both theoretical and experimental analysis. However, most electroporation parameters focused on the electric conditions and the preferred vehicle for plasmid DNA injections has been normal saline. We hypothesized that salts in vehicle for plasmid DNA must affect the efficiency of DNA transfer because cations would alter ionic atmosphere, ionic strength, and conductivity of their medium. Here, we show that half saline (71 mM) is an optimal vehicle for in vivo electroporation of naked DNA in skeletal muscle. With various salt concentrations, two reporter genes, luciferase and beta-galactosidase were injected intramuscularly under our optimal electric condition (125 V/cm, 4 pulses x 2 times, 50 ms, 1 Hz). Exact salt concentrations of DNA vehicle were measured by the inductively coupled plasma-atomic emission spectrometer (ICP-AES) and the conductivity change in the tissue induced by the salt in the medium was measured by Low-Frequency (LF) Impedance Analyzer. Luciferase expression in-creased as cation concentration of vehicle dec-reased and this result can be visualized by X-Gal staining. However, at lower salt concentration, transfection efficiency was diminished because the hypoosmotic stress and electrical injury by low conductivity induced myofiber damage. At optimal salt concentration (71 mM), we observed a 3-fold average increase in luciferase expression in comparison with the normal saline condition (p < 0.01). These results provide a valuable experimental parameter for in vivo gene therapy mediated by electroporation.
Animals ; Comparative Study ; DNA/*administration & dosage/metabolism ; Drug Delivery Systems ; Electric Conductivity ; Electroporation/methods ; Escherichia coli/genetics ; Female ; Gene Therapy/*methods ; *Gene Transfer Techniques ; Genes, Reporter ; Injections, Intramuscular ; Luciferase/metabolism ; Mice ; Mice, Inbred BALB C ; Muscle, Skeletal/drug effects/*metabolism/pathology ; Osmolar Concentration ; Plasmids/genetics/*metabolism ; Sodium Chloride/*pharmacology ; Transfection ; Vehicles/*administration & dosage ; beta-Galactosidase/metabolism

In vivo electroporation has emerged as a leading technology for developing nonviral gene therapies, and the various technical parameters governing electroporation efficiency have been optimized by both theoretical and experimental analysis. However, most electroporation parameters focused on the electric conditions and the preferred vehicle for plasmid DNA injections has been normal saline. We hypothesized that salts in vehicle for plasmid DNA must affect the efficiency of DNA transfer because cations would alter ionic atmosphere, ionic strength, and conductivity of their medium. Here, we show that half saline (71 mM) is an optimal vehicle for in vivo electroporation of naked DNA in skeletal muscle. With various salt concentrations, two reporter genes, luciferase and beta-galactosidase were injected intramuscularly under our optimal electric condition (125 V/cm, 4 pulses x 2 times, 50 ms, 1 Hz). Exact salt concentrations of DNA vehicle were measured by the inductively coupled plasma-atomic emission spectrometer (ICP-AES) and the conductivity change in the tissue induced by the salt in the medium was measured by Low-Frequency (LF) Impedance Analyzer. Luciferase expression in-creased as cation concentration of vehicle dec-reased and this result can be visualized by X-Gal staining. However, at lower salt concentration, transfection efficiency was diminished because the hypoosmotic stress and electrical injury by low conductivity induced myofiber damage. At optimal salt concentration (71 mM), we observed a 3-fold average increase in luciferase expression in comparison with the normal saline condition (p < 0.01). These results provide a valuable experimental parameter for in vivo gene therapy mediated by electroporation.
Animals ; Comparative Study ; DNA/*administration & dosage/metabolism ; Drug Delivery Systems ; Electric Conductivity ; Electroporation/methods ; Escherichia coli/genetics ; Female ; Gene Therapy/*methods ; *Gene Transfer Techniques ; Genes, Reporter ; Injections, Intramuscular ; Luciferase/metabolism ; Mice ; Mice, Inbred BALB C ; Muscle, Skeletal/drug effects/*metabolism/pathology ; Osmolar Concentration ; Plasmids/genetics/*metabolism ; Sodium Chloride/*pharmacology ; Transfection ; Vehicles/*administration & dosage ; beta-Galactosidase/metabolism

BACKGROUND: Surgical site infection (SSI) is generally considered second or third most important infection type in nosocomial infections. However, there are only a few national surveillances about surgical site infection and prophylactic antibiotics use. We performed the surveillance of surgical site infections and antibiotic use in joint replacement operation, which is difficult and costly to treat. METHODS: The surveillance study of the hip joint (HRA) and knee joint replacement surgery (KRA) was performed in four university hospitals from July 2006 to December 2006. The Clinical variables, operative risk factors for SSI, and information of prophylactic antibiotics uses were evaluated. SSI surveillance was done in 2 weeks, 1 month, 3 month, 6 month, and 1 year after surgery. RESULTS: A total of 436 cases (HRA, 227; KRA, 209) were enrolled for SSI surveillance. The SSI rates of HRA and KRA were 1.32 (3/227), and 1.44 (3/209) per 100 operations, respectively. The most of operation site was clean wound (97.9%). Staphylococcus aureus was observed in 19.8% before operation and among S. aureus infections about 20% was methicillin-resistant strain. The 1st generation cephalosporins were most frequently used for prophyaxis occupying 65.1%. The median duration of antibiotic use was 12 days (1-79 days). Any other specific risk factors were not correlated with SSI development. CONCLUSION: The multicenter surveillance study of SSI was first performed in Korea. The SSI rate was comparable with SSI reported in other country. We need to analyze the risk factors of SSI after collecting the data through further studies.
Anti-Bacterial Agents ; Cephalosporins ; Cross Infection ; Hip Joint ; Hospitals, University ; Joints ; Knee Joint ; Korea ; Methicillin Resistance ; Risk Factors ; Sprains and Strains ; Staphylococcus aureus

PURPOSE: Nutritional markers, such as total protein, albumin, and vitamin D have been reportedly associated with neonatal outcomes. This study aimed to assess the correlation between nutritional markers at birth and the need for respiratory support on the first day of life. METHODS: This retrospective study included 94 newborns admitted to the neonatal intensive care unit of Kyungpook National University Children's Hospital between March and December 2017. We measured levels of nutritional markers, including serum total protein, albumin, ferritin, 25-hydroxyvitamin D (25-OHD), and prealbumin, from cord blood or blood sample within 24 hours after birth. Respiratory support was defined as the use of nasal continuous positive airway pressure, humidified high-flow nasal cannula, or mechanical ventilation on the first day of life. RESULTS: The mean gestational age and birth weight were 36.6±2.3 weeks and 2,714±575 g, respectively. Serum total protein, albumin, prealbumin, and ferritin levels at birth were significantly correlated with gestational age and birth weight. Total protein, albumin, ferritin, and 25-OHD levels were not correlated with the time to recover birth weight after adjusting for gestational age. Moreover, prealbumin levels at birth were significantly lower in small-for-gestational-age infants than in appropriate-for-gestational-age infants. The need for respiratory support on the first day of life decreased 0.058- and 0.001-fold for every 1 g/dL increase in serum total protein (95% confidence interval [CI], 0.004 to 0.833; P=0.036) and albumin (95% CI, 0.000 to 0.136; P=0.009) levels, respectively. CONCLUSION: Nutritional status at birth could be associated with the need for respiratory support on the first day of life, regardless of the Apgar score.
Apgar Score ; Birth Weight ; Catheters ; Continuous Positive Airway Pressure ; Ferritins ; Fetal Blood ; Gestational Age ; Gyeongsangbuk-do ; Humans ; Infant ; Infant, Newborn ; Intensive Care, Neonatal ; Nutritional Status ; Parturition ; Prealbumin ; Respiration, Artificial ; Respiratory Insufficiency ; Retrospective Studies ; Vitamin D

OBJECTIVE: To assess prosthetic use by upper extremity amputees, and their difficulties with prostheses in activities of daily living and occupations. METHOD: This study is based on a survey of 307 subjects, who were using prostheses manufactured in the Center of Prosthetics and Orthotics. The survey questionnaire included items about general demographic characteristics, side and level of amputation, type of prosthesis and its use, and difficulties in the activities of daily living, employment and driving. RESULTS: The most common type of prosthesis was the cosmetic hand type (80.2%). There were no statistically significant correlations between satisfaction with prosthesis and the amputation level or type of prosthesis. The most common difficulties in daily living activities experienced by amputees were lacing shoes, removing bottle-tops with a bottle opener, and using scissors. Only 7.3% of amputees received rehabilitation services. Less than half of the amputees (44.7%) used their prostheses for eight or more hours a day, and 76.9% used their prostheses for regular or irregular cosmetic purposes. After amputation, most of the respondents (69.0%) became unemployed or changed workplaces. CONCLUSION: In our study, respondents preferred cosmetic usage to functional usage. Only 30.0% of respondents reported satisfaction with their prostheses. Many of the amputees had difficulties in complex tasks and either changed jobs or became unemployed. Clerical workers were the occupation group, which was most likely to return to work. The development of a more functional prosthetic hand and additional rehabilitation services are required.
Activities of Daily Living ; Amputation ; Amputees ; Cosmetics ; Surveys and Questionnaires ; Employment ; Hand ; Humans ; Occupations ; Prostheses and Implants ; Return to Work ; Shoes ; Upper Extremity ; Surveys and Questionnaires

BACKGROUND: Continuous veno-venous hemodiafiltration (CVVHDF) is a preferred treatment modality in hemodynamically unstable acute kidney injury (AKI) patients, because it has advantages over intermittent dialysis in terms of hemodynamic stability. However, this patient group still shows a significantly high mortality rate. To aid in the management of these high-risk patients, we evaluated the risk factors for mortality in CVVHDF-treated hypotensive AKI patients. METHODS: We studied 67 patients with AKI and hypotension who were treated with CVVHDF from February 2008 to August 2010. We reviewed patient characteristics and laboratory parameters to evaluate the risk factors for 90-day mortality. RESULTS: Of the 67 enrolled patients (male:female=42:25; mean age=69+/-14 years), 18 (27%) survived until 90 days after the initiation of CVVHDF. There was no significant difference in survival rates according to the etiology of AKI [hypovolemic shock 2/10 (20%), cardiogenic shock 4/20 (20%), septic shock 12/37 (32%)]. Univariate analysis did show significant differences between survivors and non-survivors in the frequency of ventilator use (44% vs. 76%, respectively; P=0.02), APACHE II score (29+/-7 vs. 34+/-7, respectively; P=0.01), SOFA score (11+/-4 vs. 13+/-4, respectively; P=0.03), blood pH (7.3+/-0.1 vs. 7.2+/-0.1, respectively; P=0.03), and rate of urine output <500mL for 12hours (50% vs. 80%, respectively; P=0.03). A multivariate Cox proportional hazards model showed that a urine output <500mL for 12hours was the only significant risk factor for 90-day mortality following CVVHDF treatment (odds ratio=2.1, confidence interval=1.01-4.4, P=0.048). CONCLUSION: A urine output <500mL for 12hours before the initiation of CVVHDF is an independent risk factor for 90-day mortality in hypotensive AKI patients treated with CVVHDF.
Acute Kidney Injury ; APACHE ; Dialysis ; Hemodiafiltration ; Hemodynamics ; Humans ; Hydrogen-Ion Concentration ; Hypotension ; Proportional Hazards Models ; Renal Replacement Therapy ; Risk Factors ; Shock ; Shock, Cardiogenic ; Shock, Septic ; Survival Rate ; Survivors ; Ventilators, Mechanical