Outcomes of Cystic Fibrosis Screening-Positive Infants With Inconclusive Diagnosis at School Age.

Background And Objectives: Cystic fibrosis (CF) screen-positive infants with an inconclusive diagnosis (CFSPID) are infants in whom sweat testing and genetic analysis does not resolve a CF diagnosis. Lack of knowledge about the health outcome of these children who require clinical follow-up challenges effective consultation. Early predictive biomarkers to delineate the CF risk would allow a more targeted approach to these children.

Shrinking lung syndrome treated with rituximab in pediatric systemic lupus erythematosus: a case report and review of the literature.

Background: Shrinking lung syndrome (SLS), a rare complication of systemic lupus erythematosus (SLE) characterized by dyspnea, low lung volumes, and a restrictive pattern on pulmonary function tests (PFTs), has only been reported in a few children. Given the rarity of SLS there is a paucity of literature regarding its optimal treatment. Outcomes are variable, with case reports documenting some improvement in most patients treated with corticosteroids, with or without additional immunosuppressive agents.

Immunoreactive trypsinogen levels in newborn screened infants with an inconclusive diagnosis of cystic fibrosis.

Background: Newborn screening (NBS) for cystic fibrosis (CF) not only identifies infants with a diagnosis of CF, but also those with an uncertain diagnosis of cystic fibrosis (CF), i.e. CF transmembrane conductance regulator (CFTR)-related metabolic syndrome (CRMS) or CF screen positive inconclusive diagnosis (CFSPID).

Predictors for surgical intervention and surgical outcomes in neonates with cystic fibrosis.

Background/purpose: To identify prenatal and perinatal predictors of surgery and describe surgical findings/outcomes of neonates with Meconium Ileus (MI) secondary to Cystic Fibrosis (CF).

Methods: Potential risk factors (prenatal bowel echogenicity, CF genotype, birthweight, prematurity and sex) for MI and surgery were examined in a retrospective cohort of neonates with CF presenting to a tertiary center between 1997 and 2015. Following univariable analysis, predictors of MI and surgery were determined using multivariable logistic regression.

Lower airway nitric oxide is increased in children with sickle cell disease.

Objectives: To determine alveolar and airways nitric oxide (NO) levels in children with sickle cell disease (SCD).

Study Design: Multiple flows fractional exhaled NO (FE(NO)), bronchial NO flux (J'aw(NO)), and alveolar NO concentration (Ca(NO)) were determined prospectively in 16 non-atopic children with SCD in a tertiary ambulatory clinic and compared with those in 10 children with primary ciliary dyskinesia and 22 healthy control subjects. Differences in FE(NO), J'aw(NO), and Ca(NO) were compared with mixed model analysis and Mann-Whitney tests.

Diagnostic value of nasal nitric oxide measured with non-velum closure techniques for children with primary ciliary dyskinesia.

Objectives: Nasal nitric oxide (nNO) is a reliable non-invasive screening test for primary ciliary dyskinesia (PCD), but the recommended technique, exhalation against resistance (ER), requires cooperation limiting its use in young children. Our objectives were to determine whether easier non-velum closure techniques have the ability to discriminate PCD and longitudinal reproducibility.

Study Design: We conducted a case-control study evaluating 5 breathing techniques (ER, breath hold, tidal breathing mouth open, tidal breathing mouth closed, and humming) for measuring nNO in patients with PCD compared with control subjects (cystic fibrosis [CF], non-PCD non-CF bronchiectasis, and healthy).

Plastic bronchitis as an unusual cause of mucus plugging in cystic fibrosis.

Cystic fibrosis patients are known to produce abundant, purulent sputum consisting mainly of DNA and cellular debris. We present a case of a CF patient with recurrent airway obstruction caused by a rare condition known as plastic bronchitis (PB). PB is characterized by the formation of casts of the airways that cause obstruction.

Burkholderia pseudomallei infection in a cystic fibrosis patient from the Caribbean: a case report.

Burkholderia pseudomallei is a pathogen identified with increasing frequency in the respiratory tracts of cystic fibrosis (CF) patients from endemic areas such as Southeast Asia and northern Australia. The following report describes the first known reported case in a CF patient from the Caribbean attending a North American CF clinic.

Two reports of acute neonatal acalculous cholecystitis (necrotizing cholecystitis) in a 2-week-old premature infant and a term neonate.

We present 2 cases of acute acalculous cholecystitis, an extremely rare entity in newborns. A number of risk factors have been identified, such as inspissated bile, prematurity, sepsis, dehydration, total parenteral nutrition, medications, and Escherichia coli lipopolysaccharide endotoxin. In our cases, gallbladder bile had positive bacterial cultures for E coli.

Double anomalous coronary origin from the pulmonary artery: successful surgical correction in an infant.

We report an extremely rare entity in which all coronary arteries originate from the pulmonary artery. Only a few cases have been reported and corrected, and fewer still have had a favorable outcome. The survival range reported for these patients is from 9 hours to 1 year.