BACKGROUND: The aim of this study was to investigate the status of BRCA1/2 genetic testing practices in Korea in 2014. METHODS: A structured questionnaire was provided to the specialist in charge of BRCA1/2 genetic testing via e-mail between 28 July and 10 August 2015. A total of 11 genetic testing professionals from 14 organizations responded to the survey that asked about the status of BRCA1/2 genetic testing in the year 2014. RESULTS: The average number of BRCA1/2 genetic tests executed was 192; 6 organizations had executed less than 100 tests, and 5 organizations had conducted more than 100 tests. The primary testing method used was Sanger sequencing (100%), and 2 institutes performed multiplex ligation-dependent probe amplification (MLPA). The analysis software differed across the various organizations, with Sequencher (81.81%), Seqscape (27.27%), and Codoncode Aligner (9.09%) reported as utilized. We found that the guidelines for the interpretation of the genetic tests were different at each institution. CONCLUSIONS: Although this study only examined the status of the 2014 BRCA1/2 genetic testing practices of 11 institutions, it illustrates the necessity for standardized genetic testing or interpretation guidelines in Korea.
Academies and Institutes ; Electronic Mail ; Genetic Testing* ; Korea* ; Methods ; Multiplex Polymerase Chain Reaction ; Specialization ; Surveys and Questionnaires

PURPOSE: Several studies have shown that magnesium plays an important role in modulating N-methyl-D-aspartate (NMDA)-related seizures by blocking NMDA ion channel receptors. Clinicians usually measure total serum magnesium levels instead of biologically active ionized magnesium levels. We compared the serum ionized magnesium (iMg2+) level between epileptic children with and without a history of fever-triggered seizure (FTS). METHODS: All epileptic children who visited the outpatient clinic or pediatric emergency department at Korea University Guro Hospital between January 2015 and July 2017 were included. Only epileptic children aged 1–8 years who were newly diagnosed within 2 years were included. RESULTS: There were 12 children with FTS and 16 without FTS. Median serum iMg2+ level was 0.93 (0.85–1.14, quartile) mEq/L. Serum iMg2+ level was significantly lower in epileptic children with FTS (0.86 mEq/L) compared to those without FTS (1.10 mEq/L) (P=0.005). No difference was noted in clinical variables between the two groups. Lower serum iMg2+ level significantly increased the risk of having FTS in epileptic children based on multivariable logistic regression analysis (odds ratio [OR]=0.028). CONCLUSION: Serum iMg2+ level was significantly lower in epileptic children with FTS than in those without FTS. Measurement of biologically active serum iMg2+ level could be considered in epileptic children with recurrent FTS. A large-scale prospective study is warranted.
Ambulatory Care Facilities ; Child* ; Emergency Service, Hospital ; Epilepsy ; Humans ; Ion Channels ; Korea ; Logistic Models ; Magnesium* ; N-Methylaspartate ; Prospective Studies ; Seizures* ; Seizures, Febrile

BACKGROUND AND PURPOSE: Acetylcholinesterase inhibitors (AChEIs) are widely used to treat myasthenia gravis (MG). Although AChEIs are usually tolerated well, some MG patients suffer from side effects. Furthermore, a small proportion of MG patients show cholinergic hypersensitivity and cannot tolerate AChEIs. Because repetitive compound muscle action potentials (R-CMAPs) are an electrophysiologic feature of cholinergic neuromuscular hyperactivity, we investigated the clinical characteristics of MG patients with R-CMAPs to identify their clinical usefulness in therapeutic decision-making. METHODS: We retrospectively reviewed the clinical records and electrodiagnostic findings of MG patients who underwent electrodiagnostic studies and diagnostic neostigmine testing (NT). RESULTS: Among 71 MG patients, 9 could not tolerate oral pyridostigmine bromide (PB) and 17 experienced side effects of PB. R-CMAPs developed in 24 patients after NT. The highest daily dose of PB was lower in the patients with R-CMAPs (240 mg/day vs. 480 mg/day, p<0.001). The frequencies of PB intolerance and side effects were higher in the patients with R-CMAPs than in those without R-CMAPs [37.5% vs. 0% (p<0.001) and 45.8% vs. 12.8% (p=0.002), respectively]. The MG Foundation of America postintervention status did not differ significantly between MG patients with and without R-CMAPs, and the response to immunotherapy was also good in both groups. CONCLUSIONS: Side effects of and intolerance to AChEIs are more common in MG patients with R-CMAPs than in those without R-CMAPs. AChEIs should be used carefully in MG patients with R-CMAPs. The presence of R-CMAPs after NT may be a good indicator of the risks of PB side effects and intolerance.
Acetylcholinesterase* ; Action Potentials* ; Americas ; Cholinesterase Inhibitors* ; Humans ; Hypersensitivity ; Immunotherapy ; Myasthenia Gravis* ; Neostigmine ; Pyridostigmine Bromide ; Retrospective Studies

PURPOSE: Although the American Academy of Pediatrics provides clinical guidelines for urinary tract infection (UTI) infants, guidelines are not appropriate for neonates and infants less than 2 months of age due to insufficient data. The aim of this study was to evaluate the characteristics of neonates and young infants less than 2 months old (group 1) with UTI compared to older infants from 2 to 12 months old (group 2). METHODS: We reviewed UTI patients aged 0 to 12 months admitted to the pediatric department in the last 5 years. Clinical characteristics such as age, sex, fever duration, recurrence, progression to acute pyelonephritis (APN), malformations like hydronephrosis and vesicoureteral reflux (VUR), and laboratory results were compared between group 1 and group 2. RESULTS: 615 patients were included in this study. Group 1 had 94 cases and group 2 had 521 cases. Escherichia coli was the most commonly isolated pathogen in urine cultures. Fever duration was shorter in group 1 (vs.) 2 (1.91+/-1.43 days vs. 3.42+/-2.40 days, P<0.05). As compared to group 2, group 1 had a higher proportion of patients with antenatal hydronephrosis and hydronephrosis found after admission (10.6% vs. 3.6% and 75.5% vs. 55.9%, P<0.05). There were differences between two groups in white blood cell (WBC) count (Group 1: 13,694+/-5,315/microL, Group 2: 15,271+/-6,130/microL, P<0.05) and C-reactive protein (Group 1: 32.02+/-35.17 mg/L, Group 2: 46.51+/-46.63 mg/L, P<0.05). CONCLUSION: Compared to older infants, UTI in neonates and young infants shows milder clinical manifestations except higher rates of hydronephrosis but outcome is alike.
C-Reactive Protein ; Escherichia coli ; Fever ; Humans ; Hydronephrosis ; Infant* ; Infant, Newborn* ; Leukocytes ; Pediatrics ; Pyelonephritis ; Recurrence ; Urinary Tract Infections* ; Urinary Tract* ; Vesico-Ureteral Reflux

Mycoplasma pneumoniae is known to be a common respiratory pathogen in children and adolescents. It rarely causes neurologic complications, such as meningitis, encephalitis and cerebellar ataxia, in some patients as extrapulmonary manifestations. Neurologic symptoms, such as impairment of consciousness, seizure and paralysis, in the early stage. We report a case of lobar pneumoia caused by M. pneumoniae which was complicated with status epilepticus and encephalopathy.
Adolescent ; Cerebellar Ataxia ; Child ; Consciousness ; Encephalitis ; Humans ; Meningitis ; Mycoplasma pneumoniae ; Mycoplasma* ; Neurologic Manifestations ; Paralysis ; Pneumonia ; Pneumonia, Mycoplasma* ; Seizures ; Status Epilepticus*

Penetrating chest trauma caused by the components of one's own car is rare in motor vehicle accidents. We experienced two cases of penetrating chest injury caused by the sideview mirror of the patient's vehicle. One was a 25-year-old man. The sideview mirror penetrated the left chest, went through the diaphragm, and ruptured the spleen. He was in shock upon arrival at the emergency room. An emergency thoracotomy and laparotomy were done. The ruptured spleen was resected, the lung and the diaphragm were debrided and repaired, and the chest wall was reconstructed. The other patient was a 57-year-old male, who was transported to our emergency room with the sideview mirror of his truck stuck into his right chest wall as the result of an accident. He also had a right Bennet's fracture and an open fracture of the right tibia. Air had been sucked into the right pleural cavity through the wound. Multiple rib fractures and lung lacerations had also occurred. Removal of the sideview mirror, repair of the lacerated lung, and reconstruction of chest wall were done immediately. Both patients recovered without complication and were discharged.
Adult ; Diaphragm ; Emergencies ; Emergency Service, Hospital ; Fractures, Open ; Humans ; Lacerations ; Laparotomy ; Lung ; Male ; Middle Aged ; Motor Vehicles ; Pleural Cavity ; Rib Fractures ; Shock ; Spleen ; Thoracic Injuries* ; Thoracic Wall ; Thoracotomy ; Thorax* ; Tibia ; Wounds and Injuries

Lithium has long been a primary drug used to treat bipolar mood disorder. Recently, in vivo and in vitro studies have demonstrated neuroprotective actions of lithium, even though therapeutic mechanisms of lithium remain obscure. The present study was undertaken to examine whether pretreatment with lithium can reduce the expression of aquaporin4 (AQP4) related to brain edema. Chronic lithium treatment was produced by pellet of standard diet containing 40 mmol/dL and/or 60 mmol/dL lithium chloride for 25 days. The serum concentrations of lithium were increased to 0.60+/-0.1 mEq/L in the 40 mM/dL and 60 mM/dL lithium treated rats which is therapeutic dose of clinical practice. After chronic lithium treatment, there was a dose-dependent down-regulation of AQP4 expression in the cerebrospinal fluid-brain interfaces and blood brain barrier. Down-regulation of AQP4 after chronic lithium treatment suggest that lithium may be used for the prevention or treatment of brain edema.
Animals ; Aquaporin 4* ; Blood-Brain Barrier ; Brain Edema ; Brain* ; Diet ; Down-Regulation* ; Lithium ; Lithium Chloride ; Mood Disorders ; Rats*

We aimed to examine the effects of angiotensin II AT1 receptor blocker on the expression of major renal sodium transporters and aquaporin-2 (AQP2) in rats with chronic renal failure (CRF). During 2 wks after 5/6 nephrectomy or sham operation, both CRF rats (n=10) and sham-operated control rats (n=7) received a fixed amount of low sodium diet and had free access to water. CRF rats (n=10) were divided into two groups which were either candesartan-treated (CRF-C, n=4) or vehicletreated (CRF-V, n=6). Both CRF-C and CRF-V demonstrated azotemia, decreased GFR, polyuria, and decreased urine osmolality compared with sham-operated rats. When compared with CRF-V, CRF-C was associated with significantly higher BUN levels and lower remnant kidney weight. Semiquantitative immunoblotting demonstrated decreased AQP2 expression in both CRF-C (54% of control levels) and CRF-V (57%), whereas BSC-1 expression was increased in both CRF groups. Particularly, CRF-C was associated with higher BSC-1 expression (611%) compared with CRF-V (289%). In contrast, the expression of NHE3 (25%) and TSC (27%) was decreased in CRF-C, whereas no changes were observed in CRF-V. In conclusion, 1) candesartan treatment in an early phase of CRF is associated with decreased renal hypertrophy and increased BUN level; 2) decreased AQP2 level in CRF is likely to play a role in the decreased urine concentration, and the downregulation is not altered in response to candesartan treatment; 3) candesartan treatment decreases NHE3 and TSC expression; and 4) an increase of BSC-1 is prominent in candesartan-treated CRF rats, which could be associated with the increased delivery of sodium and water to the thick ascending limb.
Angiotensin II Type 1 Receptor Blockers ; Animals ; Aquaporins/genetics ; Benzimidazoles/*pharmacology ; Blood Urea Nitrogen ; Kidney Failure, Chronic/drug therapy/*metabolism ; Male ; Organ Size/drug effects ; Rats ; Rats, Sprague-Dawley ; Receptors, Drug/*genetics ; Research Support, Non-U.S. Gov't ; Sodium-Hydrogen Antiporter/*genetics ; Sodium-Potassium-Chloride Symporters/*genetics ; Symporters/*genetics ; Tetrazoles/*pharmacology

PURPOSE: To investigate and analyze the clinical result in the treatment of aseptic nonunion of femoral shaft fracture after interlocking intramedullary nailing MATERIALS AND METHODS: We reviewed 23 cases of aspetic nonunion of femoral shaft fracture after interlocking intramedullary nail from March 1995 to February 2003 and follow up more than one year. 8 cases were treated by metal exchange, 3 cases by autogenous bone graft and the rest 12 cases by metal exchange and bone graft on the basis of fracture gap and type of nonunion. We evaulated nonunion type, union time and clinical result. Those patients were treated by interlocking intramedullary nail with or without bone graft. Union were accepted when the radiographic evidences showed bridging callus on both end of femoral shaft fracture with clinical evidences showing abscence of pseudomotion or pain. RESULTS: All patients were united by one operation. Average union time were 4.8 months in metal exchange group, 3.9 months in metal exchange with autograft bone graft group, and 4.3 months in bone graft group. 15 patients (65.2%) showed hypervascular nonunion including 7 Elephant foot types (46.7%) and 8 oligotrophic types (53.5%), and 8 patients (34.8%) showed avascular nonunion according to Weber-Brunner classification CONCLUSION: Based on our analysis on clinical outcome and stability of nonunion occuring after initial interlocking intramedullary nailing in femoral shaft fracture, interlocking intramedullary nailing with bone graft made early ambulation possible and promoting returning to normal daily life much earlier, thus based on this data, we recommend interlocking intramedullary nailing for treating femoral shaft fracture along with bone graft.
Autografts ; Bony Callus ; Classification ; Early Ambulation ; Elephants ; Femur ; Follow-Up Studies ; Foot ; Fracture Fixation, Intramedullary* ; Humans ; Transplants

BACKGROUND: We examined whether puromycin aminonucleoside (PAN)-induced nephrotic syndrome (NS) is associated with altered renal handling of water and sodium along with changes of renal abundance of aquaporins (AQP1 and AQP2) and NHE3. Next we tested the effects of alpha-melanocyte stimulating hormone (alpha- MSH), a potent anti-inflammatory drug, on the PAN-induced renal functional derangement and the changes of renal AQPs and NHE3 abundance. METHODS: PAN was administered to Sprague-Dawley rats using two protocols: protocol 1 (180 mg/kg, single iv injection) and protocol 2 (100 mg/kg, single iv injection). RESULTS: In both protocols, PAN-induced NS was associated with decreased urine concentration, manifested by an increased urine output and decreased urine osmolality and TcH2O. Consistent with this, a marked downregulation of vasopressin-regulated collecting duct AQP2 expression was seen in PAN-induced NS. In protocol 2 where rats treated with moderate dose of PAN, alpha-MSH cotreatment prevented the reduction of urine osmolality and the increase of the FENa in the PAN-induced NS. This suggests that alpha-MSH may have protective effects against the renal functional deterioration induced by PAN. The renal abundance of the AQP1, AQP2 and NHE3 was reduced in PAN-induced NS in protocol 2, as seen in protocol 1. In contrast to the functional improvement, alpha-MSH cotreatment had marginal effects in the prevention of renal AQP1, AQP2 and NHE3 downregulation in PAN-induced NS. CONCLUSION: PAN-induced NS was associated with decreased urine concentration along with reduced renal AQP2, AQP1 and NHE3 abundance. Alpha-MSH may have protective effects against the renal functional deterioration (e.g., urine osmolality and FENa). However, alpha-MSH treatment alone is less likely to prevent the marked reduction of AQP2, AQP1 and NHE3 abundance in PAN-induced NS, in contrast to the previously known dramatic effects against the ischemia-reperfusion injury in kidney and small intestine.
alpha-MSH* ; Animals ; Aquaporins ; Down-Regulation ; Intestine, Small ; Kidney ; Nephritis, Interstitial ; Nephrotic Syndrome* ; Osmolar Concentration ; Puromycin Aminonucleoside* ; Puromycin* ; Rats ; Rats, Sprague-Dawley ; Reperfusion Injury ; Sodium