Hung-Tao Chung

Unrelated cord blood transplantation for thalassaemia: a single-institution experience of 35 patients

Our study was designed to prospectively determine whether or not unrelated cord blood transplantation (CBT) can produce outcomes comparable to related donor transplantation for children with β-thalassaemia. In 35 patients, 40 transplants were performed between October 2003 and September 2009. HLA matching at enrolment was 6/6 (n=8), 5/6 (n=16), 4/6 (n=27), or 3/6 (n=1) by low-resolution HLA-A, -B, and high-resolution DRB1. These patients received non-manipulated grafts without ex vivo expansion or T-cell depletion. The median number of nucleated and CD34+ cells infused was 7.8 × 107/kg (range, 2.8–14.7 × 107/kg) and 4.0 × 105/kg (range, 1.7–19.9 × 105/kg), respectively. The 5-year OS and thalassaemia-free survival after the first transplant were 88.3 and 73.9%, respectively. The cumulative incidence of TRM at 2 years was 11.7%. Fourteen patients developed chronic skin GVHD. Thirty patients were alive and transfusion-independent with a Lansky performance score ⩾80% achieved between 6 and 76 months post transplant (median, 36 months). These data compare acceptably with the survival rates of related-donor BMT for thalassaemia and suggest that patients without an available HLA-compatible sibling but who have well-matched unrelated donors should also be considered for CBT.

MCP‐1 gene regulatory region polymorphism in Chinese children with mild, moderate and near‐fatal asthma

Background:  A polymorphism in the monocyte chemoattractant protein 1 (MCP‐1) gene regulatory region has been associated with asthma in Caucasians. This polymorphism is possibly endemic to the Asian region, but its impact on Asian populations is unclear. In addition, the relationship of this marker with life‐threatening asthma has not been clarified. The aim of this study was to test the genetic association between the MCP‐1 –2518A/G polymorphism and asthma/atopy in a cohort of Chinese children, with particular emphasis on those patients who had experienced life‐threatening asthma attacks.

Clinical Presentation of Pediatric Myocarditis in Taiwan

BACKGROUND The purposes of this study were to characterize the symptoms and signs of children with myocarditis at the time of presentation to the hospital and to identify the predictors of death. METHODS This was a 5-year retrospective study in a tertiary hospital. We collected demographic data and clinical symptoms and signs when children with myocarditis presented at the hospital. The outcome for patient was classified as either survival or death, and the predictors of death were identified. RESULTS Over the 5-year period, 27 children (14 boys and 13 girls) met the definition of clinical myocarditis. The mean age of the myocarditis patients was 9.1±5.1 years (range, 0.08-17.9 years), and the maximum age was 10-12 years. The most common presentation was gastrointestinal symptoms. We used extracorporeal membrane oxygenation on nine (33%) children, and pacemaker was implanted in eight (30%). Six (22%) children died in this study, and only one of them was younger than 6 years. The poor prognosis predictors were gastrointestinal symptoms, hepatomegaly, and hypotension. CONCLUSIONS Pediatric myocarditis presents primarily with gastrointestinal symptoms in Taiwan. Careful check of heart rhythm may provide a useful objective marker of myocarditis. The predictors of a poor prognosis were gastrointestinal symptoms, hepatomegaly, and hypotension.

Balloon Angioplasty for Native Coarctation of the Aorta in Neonates and Infants With Congestive Heart Failure

BACKGROUND Balloon angioplasty (BA) is an alternative to surgical repair for coarctation of the aorta (CoA) in children. However, its role in the treatment of native CoA in neonates and infants remains controversial. The purpose of this study was to report the midterm outcomes of BA for native CoA in neonates and infants with congestive heart failure (CHF). METHODS Between July 2000 and March 2007, 18 neonates and infants with native CoA and CHF who underwent BA were enrolled. Patients without recoarctation were designated as group A, while those with recoarctation or CHF were designated as group B. The clinical presentations, laboratory data, and outcomes were compared between groups. RESULTS There were 10 patients in group A and eight in group B. The mean age was 2.8 +/- 3.1 months (range, 0.7-11 months). Mean body weight was 4.0 +/- 1.9 kg (range, 2.1-8.0kg). CHF improved markedly in all patients immediately after BA, with a reduction in systolic pressure gradient from 36.4 +/- 12.0 to 5.6 +/- 6.0 mmHg (p < 0.001). The recoarctation rate was 44% (8/18). The risk factors for restenosis were post-BA systolic pressure gradient >10 mmHg (p = 0.007) and CoA diameter <3 mm (p = 0.013). CONCLUSIONS The outcomes of BA for native CoA in neonates and infants with CHF remain poor. The incidence of recoarctation is high in neonates and patients whose post-BA systolic pressure gradient is >10 mmHg or whose CoA diameter is <3 mm.

Identifying patients with neutrophil elastase (ELANE) mutations from patients with a presumptive diagnosis of autoimmune neutropenia.

To differentiate severe congenital neutropenia (SCN) from autoimmune neutropenia (AIN) in patients with persistent neutropenia ≤1000/mm(3) over three months, we evaluated anti-neutrophil auto-antibodies, candidate genes of ELANA, HAX1 and GCSFR, and neutrophil elastase (NE) activity in 38 patients (21 females; average onset age 14.12 ± 2.49 months) in a primary immunodeficiency disease center between 2004 and 2011. In 30 patients, detectable anti-neutrophil auto-antibodies were HNA1a in 16 patients, HNA1c in 15, MHC Class I in 14, HNA1b in eight, MHC Class II in five, and HNA2a in three. Their average neutropenia duration was 27.04 ± 2.08 months. Of eight patients without detectable auto-antibodies, three had ELANE mutations [Ser126Pro, Arg170Phe and Cys223stop] and recurrent muco-cutaneous infections and sepsis. The patient with nonsense ELANE mutation [Cys223stop] had the lowest NE activity (16.8). Thus, patients with ELANE mutations have undetectable antibodies and more severe and younger-onset muco-cutaneous infections, prolonged healing and decreased serum NE activity that require prompt intervention.

Cardiac Troponin I Release After Transcatheter Atrial Septal Defect Closure Correlated With the Ratio of the Occluder Size to Body Surface Area

BACKGROUND Cardiac troponin I (cTnI) is a very specific and sensitive marker of myocardial injury. The degree of myocardial injury associated with transcatheter atrial septal defect (ASD) closure in children is unknown. METHODS In a longitudinal study on children with ASD, cTnI serum concentrations were measured after transcatheter ASD closure. Implantation success, complications, and latest patient follow-up were described. RESULTS We inserted 73 Amplatzer septal occluders in 73 patients. Of these, we excluded two patients in whom the device embolized to the right ventricle the day after deployment. The median age was 4.5 years (range, 1.1-18.0) with 20 boys and 51 girls (male:female ratio, 1:2.6). The mean ASD size was 17 ± 7 mm, and device size ranged from 7 mm to 38 mm. The Amplatzer size/body surface area ratio was validated by demonstrating positive correlation with cTnI elevation. In children who had a successful attempt, 30 samples had a cTnI value higher than 1.0 μg/L l at 6 hours after procedure. Six patients had a significant release of cTnI greater than normal limits (mean level of 1.51 ± 0.26 μg/L). CONCLUSION In our study, transcatheter ASD closure induced minor myocardial lesion, the extent of which depended on the ratio of the occluder size to body surface area (p<0.05) but not on the patients weight or preprocedural left ventricular ejection fraction.

Pericardial effusion with cardiac tamponade as a cardiac manifestation of duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is the most common hereditary neuromuscular disease in children. It is an X‐linked hereditary dystrophinopathy due to the absence of dystrophin. Its onset is often in early childhood and presents with proximal distribution of weakness and a progressive course. Cardiac involvement in DMD is common, and its onset is usually after the age of 10 years. The most common cardiac manifestations are a dilated cardiomyopathy and cardiac arrhythmia. However, pericardial effusion with cardiac tamponade is a very rare cardiac complication of DMD. We report a boy with DMD who initially presented with progressive dyspnea and an enlarged cardiac silhouette on chest radiography who subsequently developed a large pericardial effusion with cardiac tamponade. Early recognition of pericardial effusion with cardiac tamponade is important for institution appropriate therapy. Muscle Nerve, 2009

Severe Hyponatremia Secondary to Peripherally Inserted Central Catheter in a Neonate.

a Division of Nephrology, Department of Pediatrics, Chang Gung Memorial Hospital and Chang Gung University, Taoyuan, Taiwan b Graduate Institute of Medical Sciences, National Defense Medical Center, Taipei, Taiwan c Division of Nephrology, Department of Medicine, Tri-Service General Hospital, Taipei, Taiwan d Division of Cardiology, Department of Pediatrics, Chang Gung Memorial Hospital and Chang Gung University, Taoyuan, Taiwan e Department of Pediatrics, En Chu Kong Hospital, Taipei, Taiwan f Division of Neonatology, Department of Pediatrics, Chang Gung Memorial Hospital and Chang Gung University, Taoyuan, Taiwan g Division of Allergy, Asthma and Rheumatology, Department of Pediatrics, Chang Gung Memorial Hospital and Chang Gung University, Taoyuan, Taiwan

Factors Affecting Survival in Children With Pericardial Effusion After Hematopoietic Stem Cell Transplantation

The objective of this study was to determine the incidence, risk factors, outcome, and clinical significance of pericardial effusion (PE). We retrospectively analyzed outcomes of 272 pediatric patients undergoing their first hematopoietic stem cell transplantation (HSCT) from 1998 to 2016. In total, 15% (3/20) and 5.9% (15/252) of autologous and allogeneic HSCT recipients, respectively, were identified with PE. However, there was no statistically significant difference in the incidence of PE between the 2 groups. The mean age at transplantation was 11.12 ± 5.41 y. Eighteen patients developed PE at 4.13 ± 4.44 mo after HSCT. PE was confirmed by echocardiogram in all patients. Three patients presented with severe PE with cardiac tamponade and required urgent pericardiocentesis. Overall survival (OS) rates for patients who developed PE were 83.3% and 38.9% at 100 d and 3 y, respectively, after HSCT. Death was not directly attributable to PE in patients who died in the first year after HSCT. Multivariable analysis identified the following variables to be associated with OS: PE (relative risk[RR]: 3.70; 95% confidence interval [95% CI]: 1.89-7.23; P < 0.001), active disease at HSCT (RR: 1.59; 95% CI: 1.02-2.49; P < 0.001), and thalassemia (RR: 0.62; 95% CI: 0.45-0.84; P < 0.001). PE is, thus, a debilitating and significant complication of pediatric HSCT. Therefore, prospective studies are required for better determination of the etiology and optimal method of PE treatment after HSCT.