Hb Grifton [α87(F8)His→Pro; HBA1: C.263A > C (or HBA2)] Causes Abnormal Pulse Oximetry Measurements.

An asymptomatic toddler and his mother consistently demonstrated low transcutaneous pulse oximetry (SpO2) measurements, discordant with normal arterial blood gas analyses while breathing room air. Previous evaluations by medical teams were unable to identify an etiology of their perceived hypoxia. Further investigation revealed that the boy carried an abnormal variant, Hb Grifton or α87(F8)His→Pro; HBA1: c.

Hypoxemia in sickle cell disease: significance and management.

Hypoxemia is common in SCD and likely exacerbates SCD vasculopathy. Pulse oximeter correlation with arterial oxygen tension in patients with SCD may at times be poor and arterial blood gas confirmation is required in hypoxic patients. Supplemental oxygen should be administered for the correction of hypoxemia, which if untreated creates a risk of multi-organ failure.

Gene network analysis in a pediatric cohort identifies novel lung function genes.

Lung function is a heritable trait and serves as an important clinical predictor of morbidity and mortality for pulmonary conditions in adults, however, despite its importance, no studies have focused on uncovering pediatric-specific loci influencing lung function. To identify novel genetic determinants of pediatric lung function, we conducted a genome-wide association study (GWAS) of four pulmonary function traits, including FVC, FEV1, FEV1/FVC and FEF25-75% in 1556 children. Further, we carried out gene network analyses for each trait including all SNPs with a P-value of <1.

Non-invasive measurements of carboxyhemoglobin and methemoglobin in children with sickle cell disease.

Assessment of oxyhemoglobin saturation in patients with sickle cell disease (SCD) is vital for prompt recognition of hypoxemia. The accuracy of pulse oximeter measurements of blood oxygenation in SCD patients is variable, partially due to carboxyhemoglobin (COHb) and methemoglobin (MetHb), which decrease the oxygen content of blood. This study evaluated the accuracy and reliability of a non-invasive pulse co-oximeter in measuring COHb and MetHb percentages (SpCO and SpMet) in children with SCD.

Upper airway lymphoid tissue size in children with sickle cell disease.

Background: The prevalence of obstructive sleep apnea syndrome (OSAS) is higher in children with sickle cell disease (SCD) as compared with the general pediatric population. It has been speculated that overgrowth of the adenoid and tonsils is an important contributor.

Methods: The current study used MRI to evaluate such an association.

Pulmonary complications of sickle cell disease in children.

Purpose Of Review: Sickle cell disease is one of the most prevalent genetic diseases, affecting 1 in 600 African-Americans. The lung is one of the major organs affected in sickle cell disease and the pulmonary complications of sickle cell disease result in significant morbidity and mortality in children.

Recent Findings: Recent literature has provided evidence supporting the strong association between asthma and airway hyperreactivity and sickle cell disease, as well as a link with acute chest syndrome and vaso-occlusive crisis.

Screening military dependent adolescent females for disordered eating.

Eating disorders are increasing in frequency among adolescents. The active duty military population has a high prevalence of eating disorders. This study, conducted at a major medical center, determined the prevalence of disordered eating among military dependents and the correlation between adolescent and parent eating behaviors.