High flow nasal cannula versus standard low flow nasal oxygen during flexible bronchoscopy in children: A randomized controlled trial.

BACKGROUND: Hypoxemia is the most frequent complication of fiberoptic bronchoscopy (FB) in children. Guidelines recommend oxygen supplementation and conventional nasal prongs (NC) are used for this purpose. The aim of this study was to evaluate if the use of high-flow nasal cannula therapy (HFNC) in children undergoing FB result in a lower incidence of hypoxemia than standard oxygen administration. METHODS: Patients aged 1 month-16 years undergoing elective FB were included in a prospective randomized controlled, nonblinded, single-center clinical trial and randomly assigned to receive oxygen via NC or HFNC. Patients' baseline characteristics were recorded pre-bronchoscopy. The primary outcome was oxygen desaturation during the procedure defined as saturation less than 94%. RESULTS: An intention to treat analysis for 53 patients receiving NC and 51 receiving HFNC, showed HFNC patients were less likely to have hypoxemia than were NC patients (p = .011), with an absolute risk reduction of 0.27 (95% confidence interval [CI]: 0.08-0.45) and a number needed to treat of 3.75 (95% CI: 2.22-12.04). Moderate hypoxemia (SpO2 ≥ 90% and <94%, and <60 s) was observed significantly less often with HFNC than with NC (p = .012). Severe hypoxemia (SpO2 < 90% and >30 s) was not different between groups. Patients undergoing bronchoalveolar lavage (BAL) presented fewer desaturations with HFNC (p = .0003). CONCLUSIONS: HFNC offers optimized oxygenation during elective FB with a significant reduction in desaturations and can be considered for oxygen administration, especially when BAL is performed.

A novel mutation in DAX1 (NR0B1) causing X-linked adrenal hypoplasia congenita: clinical, hormonal and genetic analysis.

The association of primary adrenal insufficiency and hypogonadotropic hypogonadism is extremely infrequent in daily clinical practice. Differential diagnosis includes X-linked adrenal hypoplasia congenita, a genetic disease characterized by an alteration in the formation of the adrenal glands and the hypothalamus-pituitary-gonadal axis. The gene responsible is DAX1 (NR0B1). The most common form of clinical presentation is neonatal primary adrenal insufficiency and complete hypogonadotropic hypogonadism. Members of a single family often present the same clinical form, although there may be relatives affected with different clinical symptoms. The aim of this study is to characterize clinically and genetically a family affected by different forms of hypogonadotropic hypogonadism and/or primary adrenal insufficiency. We describe a family with three members affected, two adults and a neonate. The way of presentation of the adults was neonatal primary adrenal insufficiency and hypogonadotropic hypogonadism (one complete and another presenting as interrupted puberty). The genetic study revealed a new mutation in DAX1, p.Q76X gene (c.C226T), resulting in a truncated protein of 76 amino acids, the same in all three affected male patients and in the asymptomatic women of the family. These cases further expand the number of DAX1 mutations reported, as well as the description of infrequent forms of presentation of this disease as interrupted puberty.