Case report of male child with elevated lipoprotein (a) leading to acute ischemic stroke.

Acute ischemic stroke (AIS) in children is rare with almost 40% diagnosed as cryptogenic. One possible mechanism associated with AIS is an elevated Lipoprotein (a) [Lp(a)] level. Here, we discuss the case of an 11-year old boy who presented with multiple thrombotic strokes secondary to elevated Lp(a), which was identified as the only risk factor and immediately treated with lipoprotein apheresis (LA). Eighteen months post-AIS, he is still receiving LA treatments and has made remarkable progress in his recovery without another cerebrovascular event.

Association of polymorphisms in genes of factors involved in regulation of splicing of cystic fibrosis transmembrane conductance regulator mRNA with acute respiratory distress syndrome in children with pneumonia.

BACKGROUND: Previous work has demonstrated a strong association between lung injury in African American children with pneumonia and a polymorphic (TG)mTn region in cystic fibrosis transmembrane conductance (CFTR) involved in the generation of a nonfunctional CFTR protein lacking exon 9. A number of splicing factors that regulate the inclusion/exclusion of exon 9 have been identified. The objective of this study was to determine whether genetic variants in these splicing factors were associated with acute respiratory distress syndrome (ARDS) in children with pneumonia. METHODS: This is a prospective cohort genetic association study of lung injury in African American and non-Hispanic Caucasian children with community-acquired pneumonia evaluated in the emergency department or admitted to the hospital. Linkage-disequilibrium-tag single nucleotide polymorphisms (LD-tag SNPs) in genes of the following splicing factors (followed by gene name) involved in exon 9 skipping PTB1 (PTBP1), SRp40 (SFRS1), SR2/ASF (SFRS5), TDP-43 (TARDBP), TIA-1 (TIA1), and U2AF(65) (U2AF2) were genotyped. SNPs in the gene of the splicing factor CELF2 (CELF2) were selected by conservation score. Multivariable analysis was used to examine association between genotypes and ARDS. RESULTS: The African American cohort (n = 474) had 29 children with ARDS and the non-Hispanic Caucasian cohort (n = 304) had 32 children with ARDS. In the African American group multivariable analysis indicated that three variants in CELF2, rs7068124 (p = 0.004), rs3814634 (p = 0.032) and rs10905928 (p = 0.044), and two in TIA1, rs2592178 (p = 0.005) and rs13402990 (p = 0.018) were independently associated with ARDS. In the non-Hispanic Caucasian group, a single variant in CELF2, rs2277212 (p = 0.014), was associated with increased risk of developing ARDS. CONCLUSIONS: The data indicate that SNPs in CELF2 may be associated with the risk of developing ARDS in both African American and non-Hispanic Caucasian children with pneumonia and suggest that the potential role of the splicing factor CELF2 in ARDS should be explored further.

Complications during mechanical ventilation-A pediatric intensive care perspective.

Mechanical ventilation is a common procedure performed in pediatric intensive care units, with over 20% of patients requiring invasive ventilator support. The most common indication for endotracheal intubation and ventilation in the pediatric population is respiratory failure either due to respiratory embarrassment or neurologic pathology. Despite the use of ventilation modes that are lung protective in the pediatric population, complications of mechanical ventilation occur frequently. These include atelectasis, post-extubation stridor, perioral tissue damage, ventilator associated pneumonia, mucus plugging, pneumothorax, pneumomediastinum, and ICU neuromyopathy. The purpose of this review is to discuss the risk factors, presentation and management of complications associated with mechanical ventilation in the pediatric population.

Intravenous immunoglobulin for acute hemorrhagic leukoencephalitis refractory to plasmapheresis.

Intravenous immunoglobulin therapy should be considered in pediatric acute hemorrhagic leukoencephalitis that is refractory to steroid and plasmapheresis.

Neutrophilic eccrine hidradenitis secondary to pegfilgrastim in a patient with synovial sarcoma.

Here, we report a case of neutrophilic eccrine hidradenitis (NEH) in a teenage male with synovial sarcoma associated with extracutaneous manifestations including myositis and splenomegaly secondary to pegfilgrastim. To the best of our knowledge, NEH has not been previously reported to occur in association with extracutaneous manifestations.