Infantile-onset Pompe disease with neutropenia: Treatment decisions in the face of a unique phenotype.

Infantile-onset Pompe disease manifests with early signs of cardiomyopathy during the first few days to weeks of life. We present the case of a newborn born via emergency cesarean section with atrial flutter and moderate biventricular hypertrophy who was diagnosed with Pompe disease on New York State newborn screen. Diagnosis was confirmed with repeat leukocyte acid alpha-glucosidase (GAA) enzyme activity, GAA gene sequencing, urine Hex4, and evaluation of Cross-Reactive Immunological Material (CRIM) status. The patient was also found to be persistently neutropenic which to our knowledge has not been previously reported in the literature in association with Pompe disease. This report highlights the impact that newborn screening had on time to diagnosis and initiation of treatment with enzyme replacement therapy. We also discuss how our patient's concurrent neutropenia impacted decision making related to immune tolerance induction prior to starting enzyme replacement therapy.

Higher Doses of Fish Oil-Based Lipid Emulsions Used to Treat Inadequate Weight Gain and Rising Triene:Tetraene Ratio in a Severely Malnourished Infant With Intestinal Failure-Associated Liver Disease.

Fish oil-based lipid emulsions (FOLEs) have been used to treat cholestasis in children with intestinal failure-associated liver disease (IFALD). When FOLEs are dosed at 1 g/kg/d, essential fatty acid (EFA) deficiency typically does not occur. We describe the clinical course of a severely malnourished parenteral nutrition-dependent infant with IFALD. Baseline EFA panels were normal upon starting FOLE at 1 g/kg/d. Despite biochemical improvement in IFALD, weight velocity was below target and biochemical EFA status worsened, even after correction for other factors affecting weight. The FOLE dose was increased to 1.5 g/kg/d, resulting in improvement of weight velocity and EFA status. This suggests that in severely malnourished infants being treated for IFALD, higher doses of FOLE may be required for adequate growth and to prevent EFA deficiency.

Relationship between antipsychotics and weight in patients with Prader-Willi syndrome.

BACKGROUND: Individuals with Prader-Willi Syndrome (PWS) are at increased risk for developing behavioral and psychiatric disorders, often requiring antipsychotics (APs). Contrary to significant AP-associated weight gain observed in the general population, existing literature suggests weight loss in patients with PWS. STUDY OBJECTIVE: To evaluate the relationship between AP use and body mass index (BMI) at admission, change in BMI during inpatient stay, and length of stay (LOS) in patients admitted to an inpatient PWS treatment program. DESIGN: Retrospective case-control study. SETTING: Hospital-based, inpatient PWS treatment program serving nationally and internationally referred children and adults with PWS. PATIENTS: Cases consisted of 52 pediatric patients with PWS who were taking APs at admission and during their stay, 97 adults with PWS who were taking APs at admission and during their stay, and 11 pediatric and adult patients with PWS who were AP naïve at admission and subsequently started an AP during their stay; all cases were matched with patients with PWS who were AP naïve at admission and during their stay by age (yrs), sex, and race-ethnicity (controls). MEASUREMENTS AND MAIN RESULTS: Between- and within-group differences in admission BMI, BMI change from admission to discharge, and LOS were analyzed. Admission BMI was lower (mean ± SD 36.8 ± 11.9 kg/m(2) vs 46.7 ± 12.5 kg/m(2) , p<0.001) and LOS longer (mean ± SD 75.9 ± 38.5 days vs 57.8 ± 23.2 days, p=0.005) for pediatric cases with AP exposure at admission and during their stay compared with matched controls. All groups experienced significant decreases in BMI from admission to discharge (p≤0.001 for all comparisons), except for pediatric cases with AP exposure at admission and during their stay. Cases that were AP naïve at admission and subsequently started an AP during their inpatient stay experienced a significantly smaller decrease in BMI from admission to discharge than matched controls (-3.011 vs -7.288 kg/m(2) , p=0.027). No other comparisons between cases and controls were significantly different. CONCLUSION: On average, patients with PWS who were prescribed APs lost weight during their inpatient stay, but this varied with patient age and duration of AP use.

Characterization of murine macrophages.

This unit describes the phenotypic characterization of macrophages through the use of fluorescence-labeled monoclonal antibodies (MAbs) that have specificity for certain extracellular membrane proteins expressed by macrophages. Although macrophages have no distinctive cell-surface antigen that allows for their enrichment, a specific set of markers can be used to distinguish macrophages from other cell types in a heterogeneous population of cells. The method can also be easily applied to cells from other sources, e.g., peritoneal exudates or spleen. Through the use of image or flow cytometry, these cells can be identified and (with flow cytometry) sorted out from a heterogeneous population for further culture or analysis.

Characterization of human monocytes/macrophages.

Human monocytes/macrophages display a variety of cell-surface determinants to which monoclonal antibodies (MAbs) have been produced. These MAbs can be used to characterize phenotypic profiles of monocytes/macrophages to gain insight into their developmental and activation status. The basic and alternate protocols in this unit describe flow cytometry methods for measuring the expression of membrane determinants using directly conjugated or unconjugated MAbs, respectively. Because cells of this lineage display characteristic membrane marker patterns, combinations of MAbs are used in three-color analysis to facilitate immunophenotypic characterization. Detailed information and commercial sources of fluorochrome-labeled MAbs are provided, and suggested combinations of these MAbs for three-color flow cytometry analysis of cell suspensions are discussed.