The International Network on Oesophageal Atresia (INoEA) consensus guidelines on the transition of patients with oesophageal atresia-tracheoesophageal fistula.

Oesophageal atresia-tracheoesophageal fistula (EA-TEF) is a common congenital digestive disease. Patients with EA-TEF face gastrointestinal, surgical, respiratory, otolaryngological, nutritional, psychological and quality of life issues in childhood, adolescence and adulthood. Although consensus guidelines exist for the management of gastrointestinal, nutritional, surgical and respiratory problems in childhood, a systematic approach to the care of these patients in adolescence, during transition to adulthood and in adulthood is currently lacking. The Transition Working Group of the International Network on Oesophageal Atresia (INoEA) was charged with the task of developing uniform evidence-based guidelines for the management of complications through the transition from adolescence into adulthood. Forty-two questions addressing the diagnosis, treatment and prognosis of gastrointestinal, surgical, respiratory, otolaryngological, nutritional, psychological and quality of life complications that patients with EA-TEF face during adolescence and after the transition to adulthood were formulated. A systematic literature search was performed based on which recommendations were made. All recommendations were discussed and finalized during consensus meetings, and the group members voted on each recommendation. Expert opinion was used when no randomized controlled trials were available to support the recommendation. The list of the 42 statements, all based on expert opinion, was voted on and agreed upon.

First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit.

BACKGROUND: Primary ciliary dyskinesia (PCD) is typically an autosomal recessive disease characterized by recurrent infections of the lower respiratory tract, frequent and severe otitis media, chronic rhinosinusitis, neonatal respiratory distress, and organ laterality defects. While severe lower respiratory tract infections and bronchiectasis are common in Inuit, PCD has not been recognized in this population. METHODS: We report a case series of seven Inuit patients with PCD identified by genetic testing in three Canadian PCD centers. RESULTS: Patients ranged from 4 to 59 years of age (at time of last evaluation) and originated in the Qikiqtaaluk region (Baffin Island, n = 5), Nunavut, or Nunavik (northern Quebec, n = 2), Canada. They had typical features of PCD, including neonatal respiratory distress (five patients), situs inversus totalis (four patients), bronchiectasis (four patients), chronic atelectasis (six patients), and chronic otitis media (six patients). Most had chronic rhinitis. Genetic evaluation demonstrated that all had homozygous pathogenic variants in DNAH11 at NM_001277115.1:c.4095+2C>A. CONCLUSIONS: The discovery of this homozygous DNAH11 variant in widely disparate parts of the Nunangat (Inuit homelands) suggests this is a founder mutation that may be widespread in Inuit. Thus, PCD may be an important cause of chronic lung, sinus, and middle ear disease in this population. Inuit with chronic lung disease, including bronchiectasis or laterality defects, should undergo genetic testing for PCD. Consideration of including PCD genetic analysis in routine newborn screening should be considered in Inuit regions.

Bronchiectasis in children from Qikiqtani (Baffin) Region, Nunavut, Canada.

RATIONALE: Bronchiectasis not related to cystic fibrosis is common in indigenous populations globally, but it has not been studied in Canadian indigenous children. OBJECTIVE: The objective of this study was to describe bronchiectasis in Canadian Inuit children and examine potentially causal factors. METHODS: We described the clinical features of bronchiectasis in Canadian Inuit children residing in the Qikiqtani (Baffin) Region, Nunavut, Canada, by performing a retrospective chart review of children from this region. Patients had computed tomography-confirmed bronchiectasis and were diagnosed at the Children's Hospital of Eastern Ontario, Ottawa, Canada, the regional tertiary center, between 1998 and 2011. MEASUREMENTS AND MAIN RESULTS: We identified 17 cases of bronchiectasis. We conservatively estimated the prevalence at 202/100,000 children. Bronchiectasis was strongly associated with lower respiratory tract infection (LRTI) in infancy. Reported environmental tobacco smoke exposure and overcrowding in the home appeared to be common. The left lower lobe was the most common lung lobe involved. Haemophilus influenza, Streptococcus, and Streptococcus pneumoniae were commonly isolated. The range of FEV1 values measured during pulmonary function testing was 46-108% predicted. CONCLUSIONS: Previous researchers have reported that Canadian Inuit children have markedly elevated rates of LRTI early in life. Our study suggests that this may lead to long-term pulmonary sequelae. Preventing LRTI in Inuit infants may both prevent acute, severe illness and reduce their risk of developing permanent lung damage.

Effects of the indoor environment on the fraction of exhaled nitric oxide in school-aged children.

BACKGROUND: The fractional concentration of exhaled nitric oxide (FeNO) appears to be a good marker for airway inflammation in children with asthma. OBJECTIVE: To evaluate the effect of environmental exposures on exhaled nitric oxide in a community sample of children. METHODS: The relationship among exhaled nitric oxide, underlying disease and home environmental exposures was examined using questionnaire data and measurement of exhaled nitric oxide in a cross-sectional study of 1135 children that included healthy children, and children with allergies and/or asthma who were attending grades 4 through 6 in Windsor, Ontario. RESULTS: Among healthy children, there was a positive association between FeNO and occupancy (P<0.02). Compared with forced air and hot water radiant heat, electric baseboard heating was associated with a significant increase of FeNO in healthy children (P=0.007) and children with allergies (P=0.043). FeNO was not associated with environmental tobacco smoke exposure or reported surface mold. The presence of pet dog(s), but not cats, was associated with a significantly lower FeNO in healthy children (P<0.001) and in children with reported allergies (P<0.001). CONCLUSIONS: The type of heating system, but not previously reported environmental tobacco smoke or mold exposure appears to affect exhaled nitric oxide in children. Exposure to different types of pets may have disparate effects on airway inflammation.