Propranolol for the Treatment of Lymphatic Malformations in a Neonate - A Case Report and Review of Literature.

Lymphatic malformations in neonates often manifest as a chylothorax, and although rare, morbidity and mortality can be significant. First-line treatment with medium-chain triglyceride-enriched formulas, or enteric rest with total parenteral nutrition, are not always successful. We describe the case of a premature neonate with trisomy 21 who presented with bilateral pleural effusions and a pericardial effusion that worsened with the initiation of enteral nutrition. Clinical improvement was not seen until the initiation of treatment with oral propranolol at a maximum dosage of 0.5 mg/kg/day divided every 8 hours with extubation 8 days after propranolol initiation. Two case reports have described the use of propranolol in similar patients receiving 2 mg/kg/day; however, our experience is the first to report treatment success at a much lower dose. A review of the literature for alternative medication treatments uncovered numerous case reports and series documenting variable results with incongruent definitions of treatment success in a diverse patient population. The rarity of this disease state makes accrual of patients difficult and more robust treatment data unlikely. Therefore, selection of the optimal adjunctive treatment must be based on individual patient and disease state characteristics as well as safety and efficacy profile of the medication.

Point-of-care screening for sickle cell disease in low-resource settings: A multi-center evaluation of HemoTypeSC, a novel rapid test.

Sickle cell disease (SCD) is a common, life-threatening genetic disorder that is best managed when diagnosed early by newborn screening. However, SCD is most prevalent in low-resource regions of the world where newborn screening is rare and diagnosis at the point-of-care is challenging. In many such regions, the majority of affected children die, undiagnosed, before the age of 5 years. A rapid and affordable point-of-care test for SCD is needed. The diagnostic accuracy of HemoTypeSC, a point-of-care immunoassay, for SCD was evaluated in individuals who had SCD, hemoglobin C disease, the related carrier (trait) states, or a normal hemoglobin phenotype. Children and adults participated in low-, medium- and high-resource environments (Ghana [n = 383], Martinique [n = 46], and USA [n = 158]). Paired blood specimens were obtained for HemoTypeSC and a reference diagnostic assay. HemoTypeSC testing was performed at the site of blood collection, and the reference test was performed in a laboratory at each site. In 587 participants, across all study sites, HemoTypeSC had an overall sensitivity of 99.5% and specificity of 99.9% across all hemoglobin phenotypes. The test had 100% sensitivity and specificity for sickle cell anemia. Sensitivity and specificity for detection of normal and trait states were >99%. HemoTypeSC is an inexpensive (<$2 per test), accurate, and rapid point-of-care test that can be used in resource-limited regions with a high prevalence of SCD to provide timely diagnosis and support newborn screening programs.

Thoracoabdominal Asynchrony Is Not Associated with Oxyhemoglobin Saturation in Recovering Premature Infants.

BACKGROUND: Recovering premature infants are at risk for hypoxemia and lack of synchrony between their rib cage and abdomen due to airflow obstruction and poor respiratory compliance. Thoracoabdominal asynchrony (TAA) is a useful marker of resistive and elastic lung properties. Whether TAA predicts oxygenation is unknown. OBJECTIVES: We investigated oxyhemoglobin saturation (SpO2%) and TAA (phase angle, φ) in preterm infants with/without high-humidity nasal cannula (HHNC). METHODS: A cross-sectional observational study was conducted in 92 infants at 32 weeks' postmenstrual age. We measured SpO2% with pulse oximetry and TAA with φ via respiratory inductance plethysmography in infants (mean gestational age: 26.4 + 1.3 weeks) who required room air (n = 18) or HHNC with/without supplemental oxygen (1-5 liters per minute, FiO2 0.21-0.33, n = 74). We calculated median SpO2% from 24.7 + 10.0 min of quiet sleep and median φ from up to 60 breaths. RESULTS: Infants breathing room air alone had marked TAA (φ = 83.6 + 32.9°, range: 10.9-148.5) as did those receiving varying degrees of ventilatory and oxygen support via HHNC (range of group means, φ = 47.0-90.0°). Infants breathing room air had statically greater median SpO2% than those receiving support (96.3 + 0.6% vs. 91.3 + 0.6%; ANOVA p = 0.001). SpO2% was not associated with TAA in either group (r2 = 0.09). CONCLUSION: Recovering premature infants exhibited TAA regardless of need for ventilatory support and supplemental oxygen. TAA was not associated with SpO2% in either group. Maintenance of SpO2% does not require correction of TAA.