Congenital central hypoventilation syndrome and Hirschsprung''s disease in half sibs.

We report two infants with congenital central hypoventilation syndrome and Hirschsprung's disease who have the same father but different mothers. The genetic implications of these cases are discussed.     

The localization of sodium and calcium to Schwann cell paranodal loops at nodes of Ranvier and of calcium to compact myelin

Summary High-voltage electron microscopy (HVEM) has been used to determine the distribution of cationic precipitates in myelinated axons resulting from the application of two cytochemical techniques: a direct osmium pyroantimonate treatment for precipitating Na⁺, Ca²⁺ and Mg²⁺; and a 5 mM Ca²⁺ inclusion procedure (Oschman & Wall) for imparting electron density to Ca²⁺ binding sites. Electron probe wavelength spectroscopy was then used on semi-thick tissue sections to identify the species of ions present in the following regions: Schwann cell paranodal loops, axoplasm at the node, compact myelin and extracellular matrix. With these combined procedures we were able to localize elevated concentrations of both Na⁺ and Ca²⁺ to cytoplasmic compartments of the Schwann cell paranodal loops, as well as to detect the presence of Ca²⁺ at elevated levels in compact myelin. The involvement of the Schwann cell paranodal loops in providing a source and/or sink for Na⁺ involved in impulse conduction is suggested by these results, and the significance of such a role is discussed. A role for Ca²⁺ in the formation and stabilization of myelin lamellae is also suggested.     

Latex specific IgE: performance characteristics of the IMMULITE 2000 3gAllergy assay compared with skin testing.

BACKGROUND: In the absence of a US Food and Drug Administration (FDA)-cleared latex skin testing reagent, in vitro tests remain important for the diagnosis of latex allergy. OBJECTIVE: To evaluate the performance characteristics of IMMULITE 2000 3gAllergy (Immulite), a third-generation, FDA-cleared, continuous random-access immunoanalyzer, for the quantification of latex specific IgE. METHODS: Stored serum samples (N = 201) from patients classified as having positive or negative latex puncture skin test results were measured for latex specific IgE levels using Immulite, and these data were compared with historical results from 3 second-generation, FDA-cleared IgE antilatex assays (AlaSTAT [Ala], AutoCAP [CAP], and HY*TEC enzyme immunoassay [HT]). RESULTS: The diagnostic performances of the CAP, Ala, and Immulite assays (> or = 0.35 kU/L cutoff value) were equivalent in sensitivity and specificity (P > .05). The HT assay (> or = 0.05 kU/L cutoff value) was more sensitive and less specific (P < .05). Immulite (> or = 0.10 kU/L cutoff value) had greater sensitivity than Ala and CAP and greater specificity than HT (P < .05 for both). Diagnostic efficiency was greater for Immulite than for CAP, Ala, and HT (P < .05). CONCLUSIONS: The Immulite system is superior in diagnostic performance, especially at the 0.10 kU/L or greater cutoff level, for the diagnosis of latex allergy compared with older, second-generation assays. Immulite still misclassifies 15.5% of puncture skin test-positive individuals as negative for latex specific IgE. Compared with second-generation assays, Immulite represents a technological advance, with enhanced speed and less operator intervention.     

Growth hormone deficiency in Costello syndrome

We report on three patients with Costello syndrome and isolated growth hormone (GH) deficiency treated with biosynthetic GH. To our knowledge, these are the only patients with Costello syndrome who have been successfully treated for GH deficiency. We review the pathophysiology of Costello syndrome and highlight the recent recommendations of tumor screening and cardiac surveillance in this population, of particular relevance to those receiving GH therapy.     

Why are human newborns so fat? Relationship between fatness and brain size at birth [retracted article]

The plumpness of the human newborn has long been recognized as a trait in need of explanation among researchers. Using a linear regression analysis, we find that head circumference is significantly and positively associated with BMI at birth, after gestational age and birthlength were controlled for, in a sample of 1,069 healthy liveborn routinely delivered at the University Hospital of Coimbra (partial correlation r = 0.409, P < 0.0001). This significant association is consistent with the idea that newborn fatness is related to the higher need of lipids in newborn humans as an energetic and plastic substrate during its accelerated brain growth period. As birthweight and birth head size are associated with head size and cognitive abilities in childhood and adult life, it could be postulated that these cognitive abilities could have acted as selective pressure responsible for the newborn fatness increase in our lineage. Am. J. Hum. Biol. 16:24–30, 2004. © 2003 Wiley‐Liss, Inc.