Congenital chylothorax: a prospective nationwide epidemiological study in Germany.

Background: Congenital chylothorax (CCT) is a rare disease of unknown aetiology. Treatment approaches vary; none has been evaluated prospectively.

Objective: To prospectively determine incidence, treatment and outcome of infants with CCT born in Germany in 2012.

A conversion formula for comparing pulse oximeter desaturation rates obtained with different averaging times.

Objective: The number of desaturations determined in recordings of pulse oximeter saturation (SpO2) primarily depends on the time over which values are averaged. As the averaging time in pulse oximeters is not standardized, it varies considerably between centers. To make SpO2 data comparable, it is thus desirable to have a formula that allows conversion between desaturation rates obtained using different averaging times for various desaturation levels and minimal durations.

Intravenous sildenafil in the management of pulmonary hypertension associated with congenital diaphragmatic hernia.

Background: Pulmonary artery hypertension (PAH) is a significant cause of morbidity and mortality in infants with congenital diaphragmatic hernia (CDH). The phosphodiesterase-5 inhibitor sildenafil may be beneficial as a pulmonary vasodilator in CDH. Use of oral preparations of sildenafil may be restricted by feeding delays and intolerance.

Treatment of Muckle-Wells syndrome: analysis of two IL-1-blocking regimens.

Objectives: Muckle-Wells syndrome (MWS) is an autoinflammatory disease characterized by excessive interleukin-1 (IL-1) release, resulting in recurrent fevers, sensorineural hearing loss, and amyloidosis. IL-1 inhibition with anakinra, an IL-1 receptor antagonist, improves clinical symptoms and inflammatory markers. Subclinical disease activity is commonly observed.

NLRP3 E311K mutation in a large family with Muckle-Wells syndrome--description of a heterogeneous phenotype and response to treatment.

Introduction: Muckle-Wells syndrome (MWS) is an inherited autoinflammatory disease characterized by fever, rash, arthralgia, conjunctivitis, sensorineural deafness and potentially life-threatening amyloidosis. The NLRP3/CIAS1 E311K mutation caused a heterogeneous phenotype of MWS in a large family. This study analyzes the clinical spectrum, patterns of inflammatory parameters and reports on response to treatment.

Critical coarctation in an extremely low birth weight pre-term infant.

Neonatal interventions for critical aortic coarctation may be associated with considerable morbidity and mortality if the patient is extremely premature. We report the successful treatment of critical coarctation in a 25-week, 740-gram infant using initial clipping of the duct until continued prostaglandin E1 infusion delayed end-to-end anastomosis 7 weeks later.

Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle-Wells syndrome.

Objective: Muckle-Wells syndrome (MWS) is an inherited autoinflammatory disease caused by mutations in the NLRP3 gene that result in excessive interleukin-1 (IL-1) release. It is characterized by severe fevers, rashes, arthralgia, and conjunctivitis, leading to sensorineural deafness and amyloidosis. The recombinant IL-1 receptor antagonist anakinra blocks the biologic activity of IL-1.

Quantitative assessment of ventricular function using three-dimensional SSFP magnetic resonance angiography.

Purpose: To evaluate three-dimensional (3D), free-breathing, steady-state free precession (SSFP) magnetic resonance angiography (MRA) for volumetric assessment of ventricular function.

Materials And Methods: In 18 subjects (mean age = 21.5 years) 3D datasets of the heart and great vessels were acquired using an ECG-triggered, free-breathing SSFP technique with a T2-preparation prepulse.