Neonatal Onset Type 2B von Willebrand Disease due to p.Arg1306Trp Variant: a Case Report and a Literature Review.

Background: Type 2B von Willebrand disease (VWD) is a less common subtype and is difficult to diagnose. This case report and literature review highlights a rare neonatal onset of type 2B VWD initially misdiagnosed as neonatal alloimmune thrombocytopenia (NAIT).

Methods: The neonate presented with severe thrombocytopenia and was unresponsive to NAIT treatments.

Epidemiologic and Clinical Outcomes of Pediatric Renal Tumors in Korea: A Retrospective Analysis of The Korean Pediatric Hematology and Oncology Group (KPHOG) Data.

Purpose: Renal tumors account for approximately 7% of all childhood cancers. These include Wilms tumor (WT), clear cell sarcoma of the kidney (CCSK), malignant rhabdoid tumor of the kidney (MRTK), renal cell carcinoma (RCC), congenital mesoblastic nephroma (CMN) and other rare tumors. We investigated the epidemiology of pediatric renal tumors in Korea.

Usefulness of Routine Coagulation Tests in Healthy Children Undergoing Elective Minor Surgery: a 12-Year Retrospective Study.

Background: Although routine coagulation tests, such as prothrombin time (PT) and activated partial thromboplastin time (aPTT) are performed before surgery to identify the risk of perioperative bleeding, bleeding complications are rare in minor surgeries, and false-positive results are often observed. Therefore, this study aimed to analyze the common causes of abnormal results of preoperative coagulation tests in previously healthy children undergoing elective minor surgery and determine the usefulness of performing these tests. Additionally, it aimed to identify the distribution of factor XII activity in children with prolonged aPTT.

Can we Predict the Clinical Course of Immune Thrombocytopenia in Children by The Mean Platelet Volume? A Preliminary Study.

Background: Mean platelet volume (MPV) is considered a marker of platelet function and is known to increase in immune thrombocytopenia (ITP). We aimed to investigate the predictive value of MPV for predicting the clinical course of ITP in children.

Methods: We retrospectively analyzed children aged < 18 years with ITP (n = 36) and healthy controls (n = 36) from June 2010 to November 2018.

Rapid weight gain in early life is associated with severity of respiratory syncytial virus (RSV) bronchiolitis in children.

Objectives: This study aimed to investigate whether rapid weight gain in early life was associated with the severity of respiratory syncytial virus (RSV) bronchiolitis in children.

Methods: We retrospectively reviewed 190 patients (1-24 months) hospitalized for RSV bronchiolitis. Parameters of bronchiolitis severity were compared between rapid (change in weight z-score from birth >0.

Epidemiology of Congenital Bleeding Disorders: a Nationwide Population-based Korean Study.

Background: Except for data in the Korea Hemophilia Foundation Registry, little is known of the epidemiology of congenital bleeding disorders in Korea.

Methods: Data were obtained from the Korean Health Insurance Review and Assessment Service (HIRA) database.

Results: From 2010 to 2015, there were 2,029 patients with congenital bleeding disorders in the Korean HIRA database: 38% (n = 775) of these patients had hemophilia A (HA), 25% (n = 517) had von Willebrand disease (vWD), 7% (n = 132) had hemophilia B (HB), and 25% (n = 513) had less common factor deficiencies.

Factors Associated With Fast Recovery of Bell Palsy in Children.

The purpose of this study was to identify the clinical characteristics and factors affecting the prognosis of children with Bell palsy. We retrospectively reviewed the medical records of 53 pediatric patients diagnosed with Bell palsy. After a mean follow-up period of 30 days, 30 patients (56%) were completely recovered, 21 patients (40%) were partially recovered, and 2 patients (4%) had not recovered.

Prospective case control study of iron deficiency and the risk of febrile seizures in children in South Korea.

Background: Febrile seizures are the most common type of seizure in the first 5 years of life, and many factors that increase seizure risk have been identified. This study was performed to examine the association between iron status and febrile seizures in children in South Korea.

Methods: A prospective unmatched case control study was performed in 63 cases of febrile seizures and 65 controls with febrile illness but no seizures.

Langerhans Cell Histiocytosis of the Gastrointestinal Tract: Evidence for Risk Organ Status.

Objective: To investigate the "risk status" of Langerhans cell histiocytosis (LCH) of the gastrointestinal tract.

Study Design: Outcomes from 43 published cases of patients with LCH and gastrointestinal tract involvement were matched to 43 patients with LCH without gastrointestinal tract involvement cared for at our institution. Comparisons were made of the 5-year overall survival rates determined from Kaplan-Meier survival curves for the entire cohort of patients, as well as subgroups defined by lack of risk organ involvement and later era of treatment (to control for temporal changes in LCH treatment regimens).

Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte.

Background: Current diagnostic tests for hereditary spherocytosis (HS) focus on the detection of hemolysis or indirectly assessing defects of membrane protein, whereas direct methods to detect protein defects are complicated and difficult to implement. In the present study, we investigated the patterns of genetic variation associated with HS among patients clinically diagnosed with HS.

Methods: Multi-gene targeted sequencing of 43 genes (17 RBC membrane protein-encoding genes, 20 RBC enzyme-encoding genes, and six additional genes for the differential diagnosis) was performed using the Illumina HiSeq platform.

Risk Factor Analysis for Secondary Malignancy in Dexrazoxane-Treated Pediatric Cancer Patients.

Purpose: Dexrazoxane has been used as an effective cardioprotector against anthracycline cardiotoxicity. This study intended to analyze cardioprotective efficacy and secondary malignancy development, and elucidate risk factors for secondary malignancies in dexrazoxane-treated pediatric patients.

Materials And Methods: Data was collected from 15 hospitals in Korea.

Higher Gemcitabine Dose Was Associated With Better Outcome of Osteosarcoma Patients Receiving Gemcitabine-Docetaxel Chemotherapy.

Background: Efficacy of gemcitabine and docetaxel (GEM + DOC) chemotherapy in patients with recurrent or refractory osteosarcoma was evaluated.

Methods: Data of 53 patients from 9 institutions, who received GEM (675 or 900 mg/m(2) on days 1 and 8) and DOC (100 mg/m(2) on day 8), were retrospectively reviewed.

Results: GEM + DOC was administered as adjuvant (n = 25) or palliative chemotherapy (n = 28).

Should healthy children who will undergo minor surgery be screened for coagulation disorder?

The objective of this study is to analyze the major causes of abnormal findings seen in the preoperative coagulation tests of asymptomatic pediatric patients and to discuss the usefulness of coagulation tests prior to minor surgery. Among patients who received minor surgery in Kyung Hee University Medical Center from March 2008 to April 2015, a total of 7114 pediatric patients (ages 1-18) were included in our study. Of these, 226 (3.

Decreased Cystatin C-Estimated Glomerular Filtration Rate Is Correlated with Prolonged Hospital Stay in Transient Tachypnea of Newborn Infants.

Background: Transient tachypnea of the newborn (TTN) is a benign disorder with a variable clinical course that often leads to hospitalization. The aim of this study was to assess and validate the relationship between the serum cystatin C level and symptom duration in infants with TTN.

Methods: Forty newborns presenting with TTN and who had undergone serum cystatin C (Cys C) tests on the first day of admission to the Kyung Hee University Hospital (Seoul, Korea) from 2009 to 2013 were included.

High Remission Rate of Chronic Immune Thrombocytopenia in Children: Result of 20-Year Follow-Up.

Purpose: This study examined the outcomes of children with chronic immune thrombocytopenia (ITP).

Materials And Methods: We retrospectively analyzed the medical records of all patients diagnosed with ITP from January 1992 to December 2011 at our institution.

Results: A total of 128 patients (64%) satisfied the criteria for newly diagnosed ITP, 31 (15%) for persistent ITP, and 41 (21%) for chronic ITP.

Clinical Impact of Epileptiform Discharge in Children With Attention-Deficit/Hyperactivity Disorder (ADHD).

The aim of this study was to investigate the prevalence and clinical significance of epileptiform discharges in patients with attention-deficit/hyperactivity disorder (ADHD). The authors retrospectively reviewed 180 children who were diagnosed with ADHD and had an electroencephalography (EEG) recording. Epileptiform discharges were found in 29 (16.

Recent change in congenital syphilis in Korea: Retrospective 10 year study.

Background: This study was conducted to evaluate recent clinical and anthropologic features of neonates with reactive serology for syphilis and their mothers from three institutions in Korea over an 11-year-period.

Method: The medical records of 20 neonates with reactive serology for syphilis and their mothers at three centers (Kyung Hee University Hospital, Kyung Hee University Hospital at Gangdong, and Korea Electric Power Corporation Hospital) seen between January 2000 and December 2010 were reviewed retrospectively.

Results: Among 20 mothers, 16 (80%) were native Korean and four (20%) were foreign-born immigrants.

Hepatic angiosarcoma mimicking congenital cytomegalovirus infection in an infant with thrombocytopenia.

Hepatic angiosarcomas are uncommon, highly aggressive tumors, rarely seen in children. A 3-month-old female infant was admitted to hospital for evaluation of multiple petechiae on her body. She had hepatosplenomegaly and scattered petechiae over her entire body.

Clinical features, genetics, and outcome of pediatric patients with hemophagocytic lymphohistiocytosis in Korea: report of a nationwide survey from Korea Histiocytosis Working Party.

Background: We analyzed a nationwide registry of pediatric patients with hemophagocytic lymphohistiocytosis (HLH) in Korea to assess the clinical and genetic features and treatment outcomes in pediatric HLH.

Methods: The Korea Histiocytosis Working Party retrospectively analyzed data on 251 pediatric patients diagnosed with HLH between 1996 and 2011.

Results: In the study cohort, 25 cases were categorized with familial HLH, 64 with presumed secondary HLH, and 162 with unspecified HLH.