BACKGROUND: The Acute Physiology and Chronic Health Evaluation (APACHE) II scoring system and the Sequential Organ Failure Assessment (SOFA) scoring system are widely used for critically ill patients. We evaluated whether APACHE II score and SOFA score predict the outcome for trauma patients in the intensive care unit (ICU). METHODS: We retrospectively analyzed trauma patients admitted to the ICU in a single trauma center between January 2014 and December 2015. The APACHE II score was figured out based on the data acquired from the first 24 hours of admission; the SOFA score was evaluated based on the first 3 days in the ICU. A total of 241 patients were available for analysis. Injury Severity score, APACHE II score, and SOFA score were evaluated. RESULTS: The overall survival rate was 83.4%. The non-survival group had a significantly high APACHE II score (24.1 ± 8.1 vs. 12.3 ± 7.2, P < 0.001) and SOFA score (7.7 ± 1.7 vs. 4.3 ± 1.9, P < 0.001) at admission. SOFA score had the highest areas under the curve (0.904). During the first 3 days, SOFA score remained high in the non-survival group. In the non-survival group, cardiovascular system, neurological system, renal system, and coagulation system scores were significantly higher. CONCLUSIONS: In ICU trauma patients, both SOFA and APACHE II scores were good predictors of outcome, with the SOFA score being the most effective. In trauma ICU patients, the trauma scoring system should be complemented, recognizing that multi-organ failure is an important factor for mortality.
APACHE* ; Cardiovascular System ; Complement System Proteins ; Critical Care* ; Critical Illness ; Humans ; Injury Severity Score ; Intensive Care Units* ; Mortality ; Multiple Trauma ; Retrospective Studies ; Survival Rate ; Trauma Centers

Amyloidosis is a heterogeneous group of diseases in which misfolding of extracellular proteins is the pathogenic factor. Light chain amyloidosis (AL) is the most common form of amyloidosis, and the causative proteins in AL are the immunoglobulin light chains produced by clonal plasma cells. Hemorrhagic events, ranging from mild subcutaneous hemorrhage to life-threatening bleeding, account for a significant proportion of morbidities and mortality in AL patients. Deficiency of factor X from deposition into amyloid fibrils has been reported to be the most common acquired factor deficiency in AL. We herein report 2 patients with acquired factor X deficiency in AL. A 55-yr-old woman with AL had a prolonged prothrombin time (PT) and an activated partial thromboplastin time (aPTT) of 2.51 International Normalized Ratio (INR) and 75.1 sec, respectively, which were corrected on mixing with normal plasma. Factor X activity was markedly decreased at 5%. The other patient was a 67-yr-old man with AL with a PT of 1.63 INR and an aPTT of 50.3 sec, which were corrected on mixing with normal plasma. Factor X activity was decreased at 17%. Neither of the patients had apparent hemorrhagic manifestations. Identification of acquired factor deficiency and timely coagulation tests are needed in the diagnostic workup and management in AL.
Aged ; Amyloidosis/*complications ; Factor X/*metabolism ; Factor X Deficiency/*diagnosis/etiology/therapy ; Female ; Hematopoietic Stem Cell Transplantation ; Humans ; Immunoglobulin Light Chains/*metabolism ; Male ; Middle Aged ; Republic of Korea ; Transplantation, Autologous

Amyloidosis is a heterogeneous group of diseases in which misfolding of extracellular proteins is the pathogenic factor. Light chain amyloidosis (AL) is the most common form of amyloidosis, and the causative proteins in AL are the immunoglobulin light chains produced by clonal plasma cells. Hemorrhagic events, ranging from mild subcutaneous hemorrhage to life-threatening bleeding, account for a significant proportion of morbidities and mortality in AL patients. Deficiency of factor X from deposition into amyloid fibrils has been reported to be the most common acquired factor deficiency in AL. We herein report 2 patients with acquired factor X deficiency in AL. A 55-yr-old woman with AL had a prolonged prothrombin time (PT) and an activated partial thromboplastin time (aPTT) of 2.51 International Normalized Ratio (INR) and 75.1 sec, respectively, which were corrected on mixing with normal plasma. Factor X activity was markedly decreased at 5%. The other patient was a 67-yr-old man with AL with a PT of 1.63 INR and an aPTT of 50.3 sec, which were corrected on mixing with normal plasma. Factor X activity was decreased at 17%. Neither of the patients had apparent hemorrhagic manifestations. Identification of acquired factor deficiency and timely coagulation tests are needed in the diagnostic workup and management in AL.
Aged ; Amyloidosis/*complications ; Factor X/*metabolism ; Factor X Deficiency/*diagnosis/etiology/therapy ; Female ; Hematopoietic Stem Cell Transplantation ; Humans ; Immunoglobulin Light Chains/*metabolism ; Male ; Middle Aged ; Republic of Korea ; Transplantation, Autologous

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is an autosomal dominant, fatal developmental disorder of the lungs, with a mortality rate of about 100%. ACD/MPV is caused by mutations in FOXF1. Herein, we describe a newborn boy with ACD/MPV carrying a novel pathogenic variant of FOXF1. The patient developed respiratory distress and severe pulmonary hypertension on the first day of life. Despite aggressive cardiorespiratory management, including veno-venous extracorporeal membrane oxygenation, his condition deteriorated rapidly, and he died within the first month of his life. Lung histology showed the characteristic features of ACD/MPV at autopsy. Sequence analysis of FOXF1 from genomic DNA obtained from autopsied lung tissue revealed that the patient was heterozygous for a novel missense variant (c.305T>C; p.Leu102Pro). Further analysis of both parents confirmed the de novo occurrence of the variant. To the best of our knowledge, this is the first report of genetically confirmed ACD/MPV in Korea.
Autopsy ; DNA ; Extracorporeal Membrane Oxygenation ; Female ; Humans ; Hypertension, Pulmonary ; Infant, Newborn* ; Korea ; Lung ; Male ; Mortality ; Parents ; Persistent Fetal Circulation Syndrome* ; Sequence Analysis

Bacterial morphology can be altered by various factors, including antibiotics. Unusually shaped, large, swollen organisms were observed in a urine culture obtained from a patient who had no history of antibiotic therapy. The organism was identified as Escherichia coli by the Vitek 2 system and by DNA sequencing of 16S rRNA and gyrB. The patient had no symptoms except fever, which subsided without medication. Microbiology laboratories should be aware of the potential appearance of such bacilli to avoid confusion with fungi and other naturally occurring filamentous organisms.
Anti-Bacterial Agents ; Atypical Bacterial Forms ; Escherichia ; Escherichia coli ; Fever ; Fungi ; Humans ; Sequence Analysis, DNA

Neuroblastoma (NB) is the most common extra-cranial solid tumor of childhood and is characterized by a wide range of clinical behaviors. Amplification of MYCN is a well-known poor prognostic factor in NB patients. As the MYCN amplification status is usually tested using tumor specimens, lengthy and invasive procedures are unavoidable. To evaluate the possibility of detecting MYCN amplification without invasive procedure, we performed conventional polymerase chain reaction (PCR) analysis to identify MYCN amplification using the preserved serum DNA. PCR of serum DNA was done in 105 NB patients whose MYCN status had been confirmed by fluorescence in situ hybridization. MYCN amplification was evaluated as the ratio of signal intensities between MYCN and NAGK (M/N ratio). When regarding the tissue FISH results as a reference, 10 patients had MYCN-amplified (MNA) NB, and 95 had non-MNA NB. The M/N ratio of the MNA group (median 2.56, range 1.01-3.58) was significantly higher than that of the non-MNA group (median 0.97, range 0.67-5.18) (P < 0.001). In the receiver operating characteristic curve analysis, the area under the curve was 0.957 (95% confidence interval 0.898-1.000; P < 0.001), and it showed 90.9% sensitivity and 97.9% specificity with the selected cut-off value set as 1.6. The detection of MYCN amplification using conventional PCR analysis of serum samples seems to be a simple and promising method to evaluate the MYCN status of NB patients. Further study with a larger set of patients is needed to confirm the accuracy of this result.
DNA* ; Fluorescence ; Humans ; In Situ Hybridization ; Methods ; Neuroblastoma ; Polymerase Chain Reaction* ; ROC Curve ; Sensitivity and Specificity

BACKGROUND: The Acute Physiology and Chronic Health Evaluation (APACHE) II scoring system and the Sequential Organ Failure Assessment (SOFA) scoring system are widely used for critically ill patients. We evaluated whether APACHE II score and SOFA score predict the outcome for trauma patients in the intensive care unit (ICU). METHODS: We retrospectively analyzed trauma patients admitted to the ICU in a single trauma center between January 2014 and December 2015. The APACHE II score was figured out based on the data acquired from the first 24 hours of admission; the SOFA score was evaluated based on the first 3 days in the ICU. A total of 241 patients were available for analysis. Injury Severity score, APACHE II score, and SOFA score were evaluated. RESULTS: The overall survival rate was 83.4%. The non-survival group had a significantly high APACHE II score (24.1 ± 8.1 vs. 12.3 ± 7.2, P < 0.001) and SOFA score (7.7 ± 1.7 vs. 4.3 ± 1.9, P < 0.001) at admission. SOFA score had the highest areas under the curve (0.904). During the first 3 days, SOFA score remained high in the non-survival group. In the non-survival group, cardiovascular system, neurological system, renal system, and coagulation system scores were significantly higher. CONCLUSIONS: In ICU trauma patients, both SOFA and APACHE II scores were good predictors of outcome, with the SOFA score being the most effective. In trauma ICU patients, the trauma scoring system should be complemented, recognizing that multi-organ failure is an important factor for mortality.
APACHE ; Cardiovascular System ; Complement System Proteins ; Critical Care ; Critical Illness ; Humans ; Injury Severity Score ; Intensive Care Units ; Mortality ; Multiple Trauma ; Retrospective Studies ; Survival Rate ; Trauma Centers

BACKGROUND: To evaluate the value of random urinary vanillylmandelic acid (VMA) as a surrogate marker for monitoring tumor response and predicting outcome in patients with neuroblastoma (NB). METHODS: Medical records of 91 patients newly diagnosed with NB at the Samsung Medical Center between June 2014 and August 2017 were reviewed. Clinical associations and other prognostic factors, including age at diagnosis, stage, pathologic subtype, MYCN amplification, and other cytogenetic aberrations, were analyzed. Furthermore, the significance of random urinary VMA level in predicting outcome and tumor response was also evaluated. RESULTS: The median random urinary VMA level at diagnosis was 27.9 (range: 1.7–600) mg/g creatinine. Abdominal primary site, male sex, advanced stage, less differentiated pathology (poorly differentiated, undifferentiated), 11q deletion, and high-risk tumor were associated with a higher VMA level at diagnosis. The VMA level decreased during chemotherapy (28.4%, 16.9%, and 9.6% of the VMA level at diagnosis after 3, 6, and 9 cycles of chemotherapy, respectively). A higher VMA level at diagnosis tends to be associated with a better overall survival in high-risk patients with borderline significance (58.3±18.6% vs. 76.5±13.4%, P=0.050). However, in the multivariate analysis, the VMA level was not a significant predictor of survival. A slower reduction in VMA level during chemotherapy was not associated with a worse overall survival. However, event free survival was significantly better in the rapid responder group. CONCLUSION: A higher VMA level was associated with high-risk features at diagnosis of NB. Random urinary VMA is a valuable marker for monitoring NB response during chemotherapy.
Biomarkers ; Chromosome Aberrations ; Creatinine ; Diagnosis ; Disease-Free Survival ; Drug Therapy ; Humans ; Male ; Medical Records ; Multivariate Analysis ; Neuroblastoma* ; Pathology ; Prognosis ; Vanilmandelic Acid*

BACKGROUND: By estimating the survival rates and exploring prognostic factors in pediatric patients with relapsed or progressed solid tumors, our purpose was to generate background data for future studies. METHODS: We reviewed the medical records of 258 patients with solid tumors who experienced relapse/progression and received subsequent salvage treatment between 1996 and 2016. RESULTS: A total of 60 patients remained progression-free during first-line salvage treatment, while the remaining 198 patients experienced relapse/progression again; 149 underwent second-line salvage treatment. A total of 76 patients underwent high-dose chemotherapy and autologous stem cell transplantation (HDCT/auto-SCT), and 44 patients received allogeneic SCT. The 10-year progression-free survival (PFS) and overall survival (OS) from relapse/progression were 18.4% ± 2.7% and 24.5% ± 3.0%, respectively. Survival rates were relatively higher in patients with anaplastic ependymoma, initially non-high-risk neuroblastoma, osteosarcoma, Wilms tumor and retinoblastoma. A multivariate analysis showed that relapse/progression during initial treatment, metastatic relapse/progression, and impossible debulking surgery were independent poor prognostic factors for both PFS and OS. Patients who exhibited a complete response or partial response during conventional salvage treatment showed significantly higher survival after SCT than those with stable disease or progressive disease (10-year OS: 54.8% ± 7.0% vs. 7.0% ± 3.5%, P < 0.001). CONCLUSION: The prognosis of relapsed/progressed pediatric solid tumors still remains unsatisfactory. New, effective treatment strategies are needed to overcome limitations of current approaches. Hopefully, the background data generated herein will be used in future clinical trials involving patients with relapsed/progressed solid tumors.
Adolescent* ; Child* ; Disease-Free Survival ; Drug Therapy ; Ependymoma ; Humans ; Medical Records ; Multivariate Analysis ; Neuroblastoma ; Osteosarcoma ; Prognosis ; Recurrence ; Retinoblastoma ; Salvage Therapy ; Stem Cell Transplantation ; Survival Rate ; Wilms Tumor

Background: Infants and very young children with malignant brain tumors have a poorer survival and a higher risk for neurologic deficits. The present study evaluated the feasibility and effectiveness of multimodal treatment including tandem high-dose chemotherapy and autologous stem cell transplantation (HDCT/auto-SCT) in minimizing use of radiotherapy (RT) in very young children with non-metastatic malignant brain tumors. Methods: Twenty consecutive patients younger than 3 years were enrolled between 2004 and 2017. Tandem HDCT/auto-SCT was performed after six cycles of induction chemotherapy.Local RT was administered only to patients with post-operative gross residual tumor at older than 3 years. Since September 2015, early post-operative local RT for patients with atypical teratoid/rhabdoid tumor or primitive neuroectodermal tumor was administered. Results: All 20 enrolled patients underwent the first HDCT/auto-SCT, and 18 proceeded to the second. Two patients died from toxicity during the second HDCT/auto-SCT, and four patients experienced relapse/progression (one localized and three metastatic), three of whom remained alive after salvage treatment including RT. A total of 17 patients remained alive at a median 7.8 (range, 2.5−15.7) years from diagnosis. Nine survivors received no RT, six survivors received local RT alone, and two survivors who experienced metastatic relapse after tandem HDCT/auto-SCT received both local and craniospinal RT. The 5-year overall, eventfree, and craniospinal RT-free survival rates were 85.0% ± 8.0%, 70.0% ± 10.2%, and 75.0% ± 9.7%, respectively. Neuroendocrine and neurocognitive functions evaluated 5 years after tandem HDCT/auto-SCT were acceptable. Conclusion Our results suggest that non-metastatic malignant brain tumors in very young children could be treated with multimodal therapy including tandem HDCT/auto-SCT while minimizing RT, particularly craniospinal RT.