Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review.

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, rare lung disease resulting in chronic oto-sino-pulmonary disease in both children and adults. Many physicians incorrectly diagnose PCD or eliminate PCD from their differential diagnosis due to inexperience with diagnostic testing methods. Thus far, all therapies used for PCD are unproven through large clinical trials.

2016 Classification Criteria for Macrophage Activation Syndrome Complicating Systemic Juvenile Idiopathic Arthritis: A European League Against Rheumatism/American College of Rheumatology/Paediatric Rheumatology International Trials Organisation Collaborative Initiative.

Objective: To develop criteria for the classification of macrophage activation syndrome (MAS) in patients with systemic juvenile idiopathic arthritis (JIA).

Methods: A multistep process, based on a combination of expert consensus and analysis of real patient data, was conducted. A panel of 28 experts was first asked to classify 428 patient profiles as having or not having MAS, based on clinical and laboratory features at the time of disease onset.

Early Childhood Risk Factors for Decreased FEV1 at Age Six to Seven Years in Young Children with Cystic Fibrosis.

Rationale: There are limited objective measures of the severity of lung disease before children are able to routinely perform spirometry, generally at age 6 years. Identifying risk factors for reduced lung function at age 6 provides opportunities to intervene and slow the progression of cystic fibrosis (CF) lung disease.

Objectives: To evaluate early childhood predictors of lung function at age 6-7 in a large U.

Baseline Ultrasound and Clinical Correlates in Children with Cystic Fibrosis.

Objective: To investigate the relationship between abdominal ultrasound findings and demographic, historical, and clinical features in children with cystic fibrosis (CF).

Study Design: Children age 3-12 years with CF without known cirrhosis, were enrolled in a prospective, multicenter study of ultrasound to predict hepatic fibrosis. Consensus ultrasound patterns were assigned by 3 radiologists as normal, heterogeneous, homogeneous, or cirrhosis.

Spontaneous Ankylosis of Occiput to C2 following Closed Traction and Halo Treatment of Atlantoaxial Rotary Fixation.

Study Design Case report. Objective We report a case of spontaneous atlantoaxial rotatory fixation (AARF) presenting 9 months after onset in an 11-year-old boy. Methods This is a retrospective case report of spontaneous ankylosis of occiput to C2 following traction, manipulative reduction, and halo immobilization for refractory atlantoaxial rotatory fixation.

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

Mutations in alpha- and beta-tubulins are increasingly recognized as a major cause of malformations of cortical development (MCD), typically lissencephaly, pachygyria and polymicrogyria; however, sequencing tubulin genes in large cohorts of MCD patients has detected tubulin mutations in only 1-13%. We identified patients with a highly characteristic cerebellar dysplasia but without lissencephaly, pachygyria and polymicrogyria typically associated with tubulin mutations. Remarkably, in seven of nine patients (78%), targeted sequencing revealed mutations in three different tubulin genes (TUBA1A, TUBB2B and TUBB3), occurring de novo or inherited from a mosaic parent.

Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.

Background: Cystic fibrosis is a life-limiting disease that is caused by defective or deficient cystic fibrosis transmembrane conductance regulator (CFTR) protein activity. Phe508del is the most common CFTR mutation.

Methods: We conducted two phase 3, randomized, double-blind, placebo-controlled studies that were designed to assess the effects of lumacaftor (VX-809), a CFTR corrector, in combination with ivacaftor (VX-770), a CFTR potentiator, in patients 12 years of age or older who had cystic fibrosis and were homozygous for the Phe508del CFTR mutation.

Use of ibuprofen to assess inflammatory biomarkers in induced sputum: Implications for clinical trials in cystic fibrosis.

Background: High-dose ibuprofen (HDI) is a clinically beneficial anti-inflammatory regimen that may be a useful reagent to study induced sputum inflammatory marker changes over short study periods appropriate for early-phase CF clinical trials.

Methods: We conducted a 28-day, open-label, randomized, controlled trial among 72 clinically stable CF subjects (FEV1≥40% predicted) randomized to HDI or routine care that assessed IL-6, IL-8, TNF-α, IL-1-β, free neutrophil elastase, and white cell counts with differentials change from baseline in induced sputum.

Results: IL-6 was the only biomarker with significant within-group change: 0.

Ganglioside GD2 expression is maintained upon recurrence in patients with osteosarcoma.

Background: Osteosarcoma is the most common primary malignant bone tumor in children and young adults. Ganglioside GD2 has been previously found on the cell surface in various tumor types, including osteosarcomas.

Findings: In this study, forty-nine additional osteosarcoma samples from 14 individual patients were assessed for GD2 expression via immunohistochemistry, of which 47 samples were found to express GD2.

Fecal microbial transplant via nasogastric tube for active pediatric ulcerative colitis.

Background: Ulcerative colitis (UC), a chronic inflammatory disease of the large intestine, is characterized by a dysregulated immune reaction. UC is associated with fecal dysbiosis. Human and animal studies support the fact that the gastrointestinal microbiome may trigger the intestinal immune response, resulting in UC.

Hepatic steatosis is prevalent in stillborns delivered to women with diabetes mellitus.

Objective: Maternal diabetes is a risk factor for pregnancy complications, including stillbirth and macrosomia. Evolving data suggest that diabetes during pregnancy also has long-term consequences for offspring, putting them at risk for obesity and the metabolic syndrome in childhood. Because nonalcoholic fatty liver disease is known to occur in adults and children with insulin resistance, we hypothesized that altered lipid metabolism in fetuses of diabetic mothers may manifest with hepatic steatosis.

Medical status of 219 children with biliary atresia surviving long-term with their native livers: results from a North American multicenter consortium.

Objectives: To examine the medical status of children with biliary atresia (BA) with their native livers after hepato- portoenterostomy (HPE) surgery.

Study Design: The Childhood Liver Disease Research and Education Network database was utilized to examine subjects with BA living with their native livers 5 or more years after HPE and to describe the prevalence of subjects with BA with an "ideal" outcome, defined as no clinical evidence of chronic liver disease, normal liver biochemical indices (aspartate aminotransferase, alanine aminotransferase, γ-glutamyl transpeptidase, platelet count, total bilirubin, international normalized ratio, and albumin), and normal health-related quality of life 5 or more years after HPE.

Results: Children with BA (n = 219; 43% male) with median age 9.

Training pediatric residents to provide parent education: a randomized controlled trial.

Objective: We evaluated the effect of Primary Care Positive Parenting Program (Triple P) training on pediatric residents and the families they serve to test 2 hypotheses: first, training would significantly improve resident skill in identifying and addressing discrete parenting and child behavior problems; and second, parents would report an improvement in their sense of self-efficacy, use of positive discipline strategies, and their child's behavior.

Methods: Study participants included pediatric residents from 3 community clinics of a pediatric residency program, as well as English-speaking parents of children aged 18 months to 12 years without a diagnosed behavior disorder cared for by study residents. Residents were randomized to receive Primary Care Triple P training either at the beginning or end of the study period.

Wrong site frenulectomy in a child: a serious safety event.

Wrong site surgery is a serious safety event that can result in temporary or even permanent harm. Various safety checklists and procedures have been added to our standard work in the operating room, but errors still get through our safety nets and patients are harmed. In this case report, we describe a wrong site frenulectomy in a child and discuss the root cause analysis of this error and also SMART (specific, measurable, achievable, realistic, timed) preventative actions that could be put into place to prevent a recurrence.

Cerebrospinal fluid levels of extracellular heat shock protein 72: A potential biomarker for bacterial meningitis in children.

Extracellular heat shock protein 72 (Hsp72) is an endogenous danger signal and potential biomarker for critical illness in children. We hypothesized that elevated levels of extracellular Hsp72 in the cerebrospinal fluid (CSF) of children with suspected meningitis could predict bacterial meningitis. We measured extracellular Hsp72 levels in the CSF of 31 critically ill children with suspected meningitis via a commercially available enzyme-linked immunosorbent assay.

Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy.

Background: Motile cilia dysfunction causes primary ciliary dyskinesia (PCD), situs inversus totalis (SI), and a spectrum of laterality defects, yet the prevalence of laterality defects other than SI in PCD has not been prospectively studied.

Methods: In this prospective study, participants with suspected PCD were referred to our multisite consortium. We measured nasal nitric oxide (nNO) level, examined cilia with electron microscopy, and analyzed PCD-causing gene mutations.

The Safety and Immunogenicity of Rotavirus Vaccination in Infants With Intestinal Failure.

Background: Young children with intestinal failure are at risk for complications from rotavirus gastroenteritis. To date, the safety and immunogenicity of rotavirus vaccines in these children are not known. We hypothesized that rotavirus vaccination would be safe and confer immunity to infants with intestinal failure and a history of abdominal surgery.

Isolated appendiceal typhlitis masquerading as perforated appendicitis in the setting of acute lymphoblastic leukemia.

Abdominal pain is common during chemotherapy for childhood leukemia. Clinically differentiating typhlitis from appendicitis can be difficult. We present an 8-year-old boy with abdominal pain in the setting of acute lymphoblastic leukemia and neutropenia.

Shifts towards pediatric specialists in the treatment of appendicitis and pyloric stenosis: trends and outcomes.

Background: Little data exists on temporal changes in the care of children with common surgical conditions. We hypothesized that an increasing proportion of procedures are performed at pediatric hospitals over time, and that outcomes are superior at these centers.

Methods: We conducted a retrospective cohort study using Washington State discharge records for children 0-17years old undergoing appendectomy (n=39,472) or pyloromyotomy (n=3,500).

Quality and safety in pediatric anesthesia.

Health care quality and value are leading issues in medicine today for patients, health care professionals, and policy makers. Outcome, safety, and service-the components of quality-have been used to define value when placed in the context of cost. Health care organizations and professionals are faced with the challenge of improving quality while reducing health care related costs to improve value.

Too attractive: the growing problem of magnet ingestions in children.

Background: Small, powerful magnets are increasingly available in toys and other products and pose a health risk. Small spherical neodymium magnets marketed since 2008 are of particular concern.

Objective: The objective of this study was to determine the incidence, characteristics, and management of single and multiple-magnet ingestions over time.