Infantile Pyknocytosis in a Premature Dichorionic Diamniotic Twin.

Infantile pyknocytosis is a rare and self-limiting cause of hemolytic anemia in neonates. It can result in severe anemia and hyperbilirubinemia. The pathogenesis is unknown: a genetic origin has been discussed; however, based on the current literature it is not clear which genetic mutations should be considered. We present a case of a premature twin, in whom genetic screening was performed. Genetic mutations in 46 genes associated with hereditary hemolytic anemia and dyserythropoietic anemia were tested. No mutations were found. In infantile pyknocytosis, a genetic defect in these genes is unlikely.

[Chronic non-infectious osteomyelitis in children]. / Chronische niet-infectieuze osteomyelitis bij kinderen.

Musculoskeletal pain in common and the differential diagnosis is broad. It is important to recognize the harmful and/or treatable pathology, without performing unnecessary diagnostics. Pattern recognition is crucial. One of the differential diagnostic considerations is chronic non-infectious osteomyelitis (CNO). A relatively unknown auto-inflammatory disease. By presenting three cases, we want to draw attention to this condition and contribute to a better recognition of this disease. We emphasize the importance of doing a total body MRI, when CNO is considered.

Feasibility of Hypoxic Challenge Testing in Children and Adolescents with Congenital Heart and Lung Disease.

BACKGROUND: This is a cross-sectional observational study to investigate the safety and feasibility of integrating changing body positions and physical activity in a hypoxic challenge test (HCT). The secondary objective was to compare oxygen saturation (Spo2) in two different locations (forehead and finger). METHODS: Included were 12 pediatric to young adult patients with congenital heart (N = 7) or lung disease (N = 5). An HCT was performed using breathing room air (21% oxygen) while sitting and breathing a normobaric hypoxic gas mixture (15% oxygen) through a facemask while seated, lying supine, standing, walking 3 km/h, and walking 5 km/h in a nonrandomized order. RESULTS: All patients, except one, successfully passed the HCT. Three patients reported symptoms, possibly related to hypoxia. Median Spo2 during the HCT decreased in all body positions compared with room air. In 9/12 (finger oximeter) vs. 6/12 (forehead oximeter) patients Spo2 decreased below 90% in one or more body positions at rest. In 11/12 (finger oximeter) vs. 3/12 (forehead oximeter) patients Spo2 decreased below 90% during mild exercise. There was no significant difference in Spo2 between the different body positions. However, patients desaturated significantly more during mild exercise (walking 3km/h and 5 km/h). Spo2% measured at the forehead gave significantly higher values compared to the index finger. DISCUSSION: HCT is safe and feasible in children and adolescents with congenital heart or lung disease, and gives additional information about oxygenation during physical activity in addition to resting conditions. Simulated hypoxia of 8202 ft (2500 m) induced a small but significant decrease in Spo2%.Spoorenberg ME, Hulzebos EHJ, Takken T. Feasibility of hypoxic challenge testing in children and adolescents with congenital heart and lung disease. Aerosp Med Hum Perform. 2016; 87(12):1004-1009.

Fitness to Fly Testing in Patients with Congenital Heart and Lung Disease.

BACKGROUND: During commercial air travel passengers are exposed to a low ambient cabin pressure, comparable to altitudes of 5000 to 8000 ft (1524 to 2438 m). In healthy passengers this causes a fall in partial pressure of oxygen, which results in relative hypoxemia, usually without symptoms. Patients with congenital heart or lung disease may experience more severe hypoxemia during air travel. This systematic review provides an overview of the current literature focusing on whether it is safe for patients with congenital heart or lung disease to fly. METHODS: The Pubmed database was searched and all studies carried out at an (simulated) altitude of 5000-8000 ft (1524-2438 m) for a short time period (several hours) and related to patients with congenital heart or lung disease were reviewed. RESULTS: Included were 11 studies. These studies examined patients with cystic fibrosis, neonatal (chronic) lung disease and congenital (a)cyanotic heart disease during a hypoxic challenge test, in a hypobaric chamber, during commercial air travel, or in the mountains. Peripheral/arterial saturation, blood gases, lung function, and/or the occurrence of symptoms were listed. DISCUSSION: Based on the current literature, it can be concluded that air travel is safe for most patients. However, those at risk of hypoxia can benefit from supplemental in-flight oxygen. Therefore, patients with congenital heart and lung disease should be evaluated carefully prior to air travel to select the patients at risk for hypoxia using the current studies and guidelines.