Growth charts for individuals with rhizomelic chondrodysplasia punctata.

Rhizomelic chondrodysplasia punctata (RCDP) is a class of peroxisomal disorders characterized by defective plasmalogen biosynthesis. There are multiple recognized types of RCDP, all of which have autosomal recessive inheritance, and their associated genes are known: RCDP type 1 with PEX7, RCDP type 2 with GNPAT, RCDP type 3 with AGPS, RCDP type 4 with FAR1, and RCDP type 5 with PEX5. Among other medical/developmental issues, plasmalogen deficiency has a direct effect on bone growth and results in postnatal growth failure, the severity of which corresponds to the degree of plasmalogen deficiency. In order to document growth in patients with RCDP, we present detailed growth curves for length, weight, and head circumference derived from retrospective data from 23 individuals with RCDP types 1 and 2 confirmed by molecular and/or biochemical studies. We stratified growth curves by age as well as by plasmalogen level, with those with higher plasmalogens grouped as "non-classic." The growth charts presented here provide guidance to families and physician caretakers on the natural course of growth in individuals with RCDP during infancy into early childhood, and thus will have particular utility in setting expectations and guiding optimal feeding interventions in this population.© 2016 Wiley Periodicals, Inc.

A randomized, double-blind, placebo-controlled study of milk oral immunotherapy for cow's milk allergy.

BACKGROUND: Orally administered, food-specific immunotherapy appears effective in desensitizing and potentially permanently tolerizing allergic individuals. OBJECTIVE: We sought to determine whether milk oral immunotherapy (OIT) is safe and efficacious in desensitizing children with cow's milk allergy. METHODS: Twenty children were randomized to milk or placebo OIT (2:1 ratio). Dosing included 3 phases: the build-up day (initial dose, 0.4 mg of milk protein; final dose, 50 mg), daily doses with 8 weekly in-office dose increases to a maximum of 500 mg, and continued daily maintenance doses for 3 to 4 months. Double-blind, placebo-controlled food challenges; end-point titration skin prick tests; and milk protein serologic studies were performed before and after OIT. RESULTS: Nineteen patients, 6 to 17 years of age, completed treatment: 12 in the active group and 7 in the placebo group. One dropped out because of persistent eczema during dose escalation. Baseline median milk IgE levels in the active (n = 13) versus placebo (n = 7) groups were 34.8 kUa/L (range, 4.86-314 kUa/L) versus 14.6 kUa/L (range, 0.93-133.4 kUa/L). The median milk threshold dose in both groups was 40 mg at the baseline challenge. After OIT, the median cumulative dose inducing a reaction in the active treatment group was 5140 mg (range 2540-8140 mg), whereas all patients in the placebo group reacted at 40 mg (P = .0003). Among 2437 active OIT doses versus 1193 placebo doses, there were 1107 (45.4%) versus 134 (11.2%) total reactions, with local symptoms being most common. Milk-specific IgE levels did not change significantly in either group. Milk IgG levels increased significantly in the active treatment group, with a predominant milk IgG4 level increase. CONCLUSIONS: Milk OIT appears to be efficacious in the treatment of cow's milk allergy. The side-effect profile appears acceptable but requires further study.

Determinants of blood pressure response to low-salt intake in a healthy adult population.

Although the beneficial effects of lowering salt intake in hypertensive patients are widely appreciated, the impact of promoting dietary salt restriction for blood pressure (BP) reduction at the population level remains controversial. The authors used 24-hour ambulatory BP monitoring to characterize the determinants of systolic BP (SBP) response to low-salt intake in a large, relatively healthy Amish population. Patients received a high- and low-sodium diet for 6 days each, separated by a 6- to 14-day washout period. Variance component analysis was used to assess the association of several variables with SBP response to low-salt diet. Mean SBP was 0.7 ± 5.8 mm Hg and 1.3 ± 6.1 mm Hg lower on the low-salt compared with the high-salt diet during daytime (P=.008) and nighttime (P<.0001), respectively. SBP response to a low-salt diet was significantly associated with increasing age and pre-intervention SBP, in both daytime and nighttime, while the association with female sex and SBP response to cold pressor test (CPT) was significant only during nighttime. Our results suggest that salt reduction may have greater BP-lowering effects on women, older individuals, individuals with higher SBP, and individuals with higher SBP response to CPT.