no abstract available.

PURPOSE: Mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with epileptic encephalopathy and severe cognitive impairment. We aim to characterize the association between this gene and treatment efficacy. METHODS: We retrospectively analyzed 10 patients who were treated at Severance Children's Hospital for epileptic encephalopathy who were subsequently diagnosed with a CDKL5 mutation using next-generation sequencing. RESULTS: Electroencephalography (EEG) results showed generalized pattern abnormalities in 60% (6/10) of patients with CDKL5 mutations. We analyzed the effects of three treatments, namely antiepileptic drugs (AEDs), ketogenic diet (KD), and steroids. A more than 50% reduction in seizures was observed in 12% (1/8) of patients treated with clobazam. KD treatment proved ineffective in most cases. In addition, a more than 50% reduction in seizures was observed in 57% (4/7) of patients treated with steroids. EEG analysis of patients treated effectively with steroids revealed that 75% (3/4) showed hypsarrhythmia and 25% (1/4) showed focal epileptiform. CONCLUSION In this study, as in other studies, AEDs and KD did not effectively control seizures in most patients with a CDKL5 mutation. However, steroid therapy reduced the frequency of seizures in patients who also exhibited hypsarrhythmia. This suggests that steroid treatment is helpful in cases of hypsarrhythmia with CDKL5 mutations.

PURPOSE: Maternal lipopolysaccharide (LPS) injection induces neurodevelopmental disorders, such as cerebral palsy. Exercise activates phosphatidylinositol 3-kinase (PI3K)-protein kinase B (Akt) signaling pathway that enhances neurogenesis. Wnt ligands are also implicated in the hippocampal neurogenesis and synaptic plasticity. Glycogen synthase kinase-3β (GSK-3β) is a downstream molecule of Akt, and GSK-3β is known to modulate hippocampal neurogenesis negatively. METHODS: Cerebral palsy was made by maternal LPS-injection. On the 5 weeks after birth, treadmill running was applied to the rat pups of the exercise groups, for 30 minutes, 5 times a week during 6 weeks. RESULTS: Treadmill running alleviated short-term memory impairments of the cerebral palsy rat pups. Hippocampal cell proliferation was increased and hippocampal apoptosis was suppressed by treadmill running in the cerebral palsy rat pups. Hippocampal phosphorylated-PI3K/PI3K ratio, phosphorylated-Akt/Akt ratio, and Wnt expression were enhanced by treadmill running in the cerebral palsy rat pups. In contrast, hippocampal phosphorylated-GSK-3β/GSK-3β ratio and β-catenin expression were suppressed by treadmill running in the cerebral palsy rat pups. CONCLUSIONS: The results of this study showed that short-term memory improvement due to treadmill running in cerebral palsy occurs via activation of the PI3K-Akt-Wnt pathway.
Animals ; Apoptosis ; Cell Proliferation ; Cerebral Palsy* ; Glycogen Synthase ; Ligands ; Memory, Short-Term* ; Neurodevelopmental Disorders ; Neurogenesis ; Neuronal Plasticity ; Parturition ; Phosphatidylinositol 3-Kinase ; Phosphotransferases ; Proto-Oncogene Proteins c-akt ; Rats* ; Running

BACKGROUND: The Acute Physiology and Chronic Health Evaluation (APACHE) II model has been widely used in Korea. However, there have been few studies on the APACHE IV model in Korean intensive care units (ICUs). The aim of this study was to compare the ability of APACHE IV and APACHE II in predicting hospital mortality, and to investigate the ability of APACHE IV as a critical care triage criterion. METHODS: The study was designed as a prospective cohort study. Measurements of discrimination and calibration were performed using the area under the receiver operating characteristic curve (AUROC) and the Hosmer-Lemeshow goodness-of-fit test respectively. We also calculated the standardized mortality ratio (SMR). RESULTS: The APACHE IV score, the Charlson Comorbidity index (CCI) score, acute respiratory distress syndrome, and unplanned ICU admissions were independently associated with hospital mortality. The calibration, discrimination, and SMR of APACHE IV were good (H = 7.67, P = 0.465; C = 3.42, P = 0.905; AUROC = 0.759; SMR = 1.00). However, the explanatory power of an APACHE IV score >93 alone on hospital mortality was low at 44.1%. The explanatory power was increased to 53.8% when the hospital mortality was predicted using a model that considers APACHE IV >93 scores, medical admission, and risk factors for CCI >3 coincidentally. However, the discriminative ability of the prediction model was unsatisfactory (C index <0.70). CONCLUSIONS: The APACHE IV presented good discrimination, calibration, and SMR for hospital mortality.
APACHE* ; Calibration ; Cohort Studies ; Comorbidity ; Critical Care ; Discrimination (Psychology) ; Hospital Mortality ; Intensive Care Units ; Korea ; Mortality* ; Prospective Studies ; Respiratory Distress Syndrome, Adult ; Risk Factors ; ROC Curve ; Tertiary Care Centers* ; Triage

BACKGROUND: The Acute Physiology and Chronic Health Evaluation (APACHE) II model has been widely used in Korea. However, there have been few studies on the APACHE IV model in Korean intensive care units (ICUs). The aim of this study was to compare the ability of APACHE IV and APACHE II in predicting hospital mortality, and to investigate the ability of APACHE IV as a critical care triage criterion. METHODS: The study was designed as a prospective cohort study. Measurements of discrimination and calibration were performed using the area under the receiver operating characteristic curve (AUROC) and the Hosmer-Lemeshow goodness-of-fit test respectively. We also calculated the standardized mortality ratio (SMR). RESULTS: The APACHE IV score, the Charlson Comorbidity index (CCI) score, acute respiratory distress syndrome, and unplanned ICU admissions were independently associated with hospital mortality. The calibration, discrimination, and SMR of APACHE IV were good (H = 7.67, P = 0.465; C = 3.42, P = 0.905; AUROC = 0.759; SMR = 1.00). However, the explanatory power of an APACHE IV score >93 alone on hospital mortality was low at 44.1%. The explanatory power was increased to 53.8% when the hospital mortality was predicted using a model that considers APACHE IV >93 scores, medical admission, and risk factors for CCI >3 coincidentally. However, the discriminative ability of the prediction model was unsatisfactory (C index <0.70). CONCLUSIONS: The APACHE IV presented good discrimination, calibration, and SMR for hospital mortality.
APACHE ; Calibration ; Cohort Studies ; Comorbidity ; Critical Care ; Discrimination (Psychology) ; Hospital Mortality ; Intensive Care Units ; Korea ; Mortality ; Prospective Studies ; Respiratory Distress Syndrome, Adult ; Risk Factors ; ROC Curve ; Tertiary Care Centers ; Triage

No abstract available.
Cafe-au-Lait Spots* ; Chromosomes, Human, Pair 15* ; Humans

Embryonic stem cells (ESCs) can be propagated in vitro on feeder layers of mouse STO fibroblast cells. The STO cells secrete several cytokines that are essential for ESCs to maintain their undifferentiated state. In this study, we found significant growth inhibition of mouse ESCs (mESCs) cultured on STO cells infected with adenovirus containing a dominant-negative mutant form of IkappaB (rAd-dnIkappaB). This blockage of the NF-kappaB signal pathway in STO cells led to a significant decrease in [3H]thymidine incorporation and colony formation of mESCs. Expression profile of cytokines secreted from the STO cells revealed an increase in the bone morphogenetic protein4 (BMP4) transcript level in the STO cells infected with adenoviral vector encoding dominant negative IkappaB (rAd-dnIkappaB). These results suggested that the NF-kappaB signaling pathway represses expression of BMP4 in STO feeder cells. Conditioned medium from the rAd-dnIkappaB-infected STO cells also significantly reduced the colony size of mESCs. Addition of BMP4 prevented colony formation of mESCs cultured in the conditioned medium. Our finding suggested that an excess of BMP4 in the conditioned medium also inhibits proliferation of mESCs.
Animals ; *Bone Morphogenetic Protein 4/genetics/metabolism ; Cell Differentiation/genetics ; Cell Proliferation ; Culture Media, Conditioned ; *Embryonic Stem Cells/cytology/metabolism ; *Feeder Cells/cytology/metabolism ; *Fibroblasts/cytology/metabolism ; Gene Expression Regulation/genetics ; *I-kappa B Proteins/genetics/metabolism ; Mice ; Mutation ; NF-kappa B/genetics/metabolism ; Signal Transduction

Biphenotypic acute leukemia (BAL) is a subtype of acute leukemia that expresses two different immunophenotypic lineages, most commonly myeloid and either B- or T-lymphoid lineages. This entity has been defined by a scoring system proposed by the European Group for the Immunological Characterization of Leukemias (EGIL). The prognosis of BAL is regarded as being worse than either acute lymphoid or myeloid leukemia that does not show lineage ambiguity. However, a treatment strategy for BAL has not yet been established. We experienced a case of BAL with the t(8;21) translocation, a favorable cytogenetic rearrangement in acute myeloid leukemia (AML). The patient was successfully treated with cytarabine and anthracycline for induction and consolidation. The quantitative value of the AML1-ETO gene decreased after achieving complete hematologic remission. Thus, the AML1-ETO gene rearrangement in BAL may be associated with an acceptable response to the treatment strategy for AML.
Cytarabine ; Cytogenetics ; Gene Rearrangement ; Humans ; Leukemia ; Leukemia, Biphenotypic, Acute ; Leukemia, Myeloid ; Leukemia, Myeloid, Acute ; Prognosis

The purpose of this study was to investigate the effects of taekwondo training on VO2max, MVO2 and electrocardiogram ST slope, QRS duration in college woman. Subject were divided into two groups, one is taekwondo group (n=11) and the other is control group (n=10). They participated in graded exercise test (Balke protocol) and measured aerobic capacity and electrocardiogram. The aerobic capacity (VO2max and AT) was measured by autogas analyser. The resting and exercise rate-pressure product (RPP) could be measured with HR and systolic BP for MVO2 measurement. The electrocardiogram ST slope, QRS duration was calculated using automated software program (QMC). The measured data were analyzed by using paired t -test. The results of this study were as follows : There was a significant difference of VO2max and AT between taekwondo group and control group. VO2max of taekwondo group was 4~5 mL/kg/min higher than control group (p<0.01) and AT also taekwondo group was 3.4% higher than control group (p<0.05). There was no significant difference of maximal exercise MVO2 between taekwondo and control group. There was no significant difference of electrocardiogram ST slope between group but rest QRS duration in taekwondo group was longer than the control group (p<0.01). Conclusively, these data suggest that regular taekwondo training will strengthen on aerobic capacity and resting slow heart beats.
Electrocardiography ; Exercise Test ; Female ; Heart ; Humans

BACKGROUND: Nitrous oxide may cause distension of the intestine. We studied the influence of nitrous oxide on the recovery of bowel function and the incidence of complications of bowel distension. METHODS: Fifty patients scheduled for abdominal hysterectomy were anesthetized with sevoflurane and oxygen and were randomly assigned to be given 50% nitrous oxide (n = 25) or 50% air (n = 25) in two groups. A surgeon assessed the closing condition. Patients reported pain, nausea and vomiting after surgery. The lapse of time before the passing of flatus was recorded. RESULTS: There was no difference between the two groups with respect to body weight, duration of surgery, alfentanil and atracurium requirements, pain score, nausea and vomiting, and closing condition. The time elapsing before the passing of flatus was significantly greater for the patients that received nitrous oxide. CONCLUSIONS: Our results suggest that avoiding nitrous oxide administration during prolonged intraabdominal surgery shortens the time for recovery of bowel function.
Alfentanil ; Atracurium ; Body Weight ; Flatulence ; Humans ; Hysterectomy ; Incidence ; Intestines ; Nausea ; Nitrous Oxide* ; Oxygen ; Recovery of Function* ; Vomiting