Clinical application of the Pediatric Acute Lung Injury Consensus Conference definition of acute respiratory distress syndrome

PURPOSE: Despite improved quality of intensive care, acute respiratory distress syndrome (ARDS) significantly contributes to mortality in critically ill children. As pre-existing definitions of ARDS were adult-oriented standards, the Pediatric Acute Lung Injury Consensus Conference (PALICC) group released a new definition of pediatric ARDS. In this study, we aimed to assess the performance of PALICC definition for ARDS risk stratification. METHODS: Total 332 patients who admitted to the intensive care unit at Severance Hospital from January 2009 to December 2016 and diagnosed as having ARDS by either the PALICC definition or the Berlin definition were retrospectively analyzed. Patient characteristics and mortality rates were compared between the individual severity groups according to both definitions. RESULTS: The overall mortality rate was 36.1%. The mortality rate increased across the severity classes according to both definitions (26% in mild, 37% in moderate and 68% in severe by the PALICC definition [P<0.001]; 20% in mild, 32% in moderate and 64% in severe by the Berlin definition [P<0.001]). The mortality risk increased only for severe ARDS in both definitions (hazard ratio [95% confidence interval]: 2.279 [1.414–3.672], P=0.001 by the PALICC definition; 2.674 [1.518–4.712], P=0.001 by the Berlin definition). There was no significant difference in mortality discrimination between the 2 definitions (difference in integrated area under the curve: 0.017 [−0.018 to 0.049]). CONCLUSION: The PALICC definition demonstrated similar discrimination power on PARDS' severity and mortality as the Berlin definition.

Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea

Genitopatellar syndrome (GPS) is a rare disorder characterized by patellar hypoplasia, flexion contractures of the lower limbs, psychomotor retardation and genital and renal anomalies. We report the case of a female infant diagnosed with GPS to a KAT6B gene mutation, which was identified using whole exome sequencing.

Delta Neutrophil Index as an Early Marker for Distinguishing Myeloid from Childhood Acute Leukemia / 임상소아혈액종양

BACKGROUND: The accurate and early diagnosis of acute myeloid leukemia (AML) is important to choose proper treatment option depending on the risk stratification. The delta neutrophil index (DNI) is a relatively new blood marker that indicates the proportion of immature granulocytes in peripheral blood circulation. This study aimed to evaluate the diagnostic value of the DNI for detecting AML in the early phase of acute leukemia. METHODS: We retrospectively analyzed laboratory tests and bone marrow study results of 163 pediatric patients with acute leukemia admitted to the emergency department, who were diagnosed with acute leukemia. An automatic analyzer (ADVIA 2120 Hematology System; Siemens Healthcare Diagnostics, Forchheim, Germany) was used to measure the DNI in the peripheral blood of each patient. RESULTS: The mean DNI was significantly different between the AML (N=39) and non-AML (N=124) groups (P < 0.05), and the DNI was the only significant marker for predicting AML in patients with acute leukemia (odds ratio, 1.328; P < 0.05). The DNI more than 4.4% has the highest predictability for distinguishing the patients with AML from the patients with acute leukemia. The mean DNI of the acute promyelocytic leukemia (APL, N=8) group was statistically higher than that of the non-APL group (N=31, P=0.019), but the DNI was not significant in the univariate logistic regression analysis. CONCLUSION: The DNI might be a promising peripheral blood marker for predicting AML in the early work-up of patients with acute leukemia.