We examined the burden of large, rare, copy-number variants (CNVs) in 192 individuals with renal hypodysplasia (RHD) and replicated findings in 330 RHD cases from two independent cohorts. CNV distribution was significantly skewed toward larger gene-disrupting events in RHD cases compared to 4,733 ethnicity-matched controls (p = 4.8 × 10(-11)). This excess was attributable to known and novel (i.e., not present in any database or in the literature) genomic disorders. All together, 55/522 (10.5%) RHD cases harbored 34 distinct known genomic disorders, which were detected in only 0.2% of 13,839 population controls (p = 1.2 × 10(-58)). Another 32 (6.1%) RHD cases harbored large gene-disrupting CNVs that were absent from or extremely rare in the 13,839 population controls, identifying 38 potential novel or rare genomic disorders for this trait. Deletions at the HNF1B locus and the DiGeorge/velocardiofacial locus were most frequent. However, the majority of disorders were detected in a single individual. Genomic disorders were detected in 22.5% of individuals with multiple malformations and 14.5% of individuals with isolated urinary-tract defects; 14 individuals harbored two or more diagnostic or rare CNVs. Strikingly, the majority of the known CNV disorders detected in the RHD cohort have previous associations with developmental delay or neuropsychiatric diseases. Up to 16.6% of individuals with kidney malformations had a molecular diagnosis attributable to a copy-number disorder, suggesting kidney malformations as a sentinel manifestation of pathogenic genomic imbalances. A search for pathogenic CNVs should be considered in this population for the diagnosis of their specific genomic disorders and for the evaluation of the potential for developmental delay.

The dietary bioequivalence of alpha-linolenic (LNA) and docosahexaenoic acids (DHA) as substrates for brain and retinal n-3 fatty acid accretion during the brain growth spurt is reported for neonatal baboons who consumed a long-chain-polyunsaturate free commercial human infant formula with a n-6/n-3 ratio of 10:1. Neonates received oral doses of 13C-labeled fatty acids (LNA*) or (DHA*) at 4 wk of age, and at 6 wk brain (occipital cortex), retina, retinal pigment epithelium, liver, erythrocytes, and plasma were analyzed. In the brain, 1.71% of the preformed DHA* dose was detected, whereas 0.23% of the LNA* dose was detected as DHA*, indicating that preformed DHA is 7-fold more effective than LNA-derived DHA as a source for DHA accretion. In LNA*-dosed animals, DHA* was greater than 60% of labeled fatty acids in all tissues except erythrocytes, where docosapentaenoic acid was 55%. Estimates using dietary LNA levels as tracees indicate that brain turnover of DHA is less than 5% per week between weeks 4 and 6 of life. For retina and retinal pigment epithelium, preformed DHA was at levels 12-fold and 15-fold greater than LNA-derived DHA. Liver, plasma, and erythrocytes ratios were 27, 29, and 51, respectively, showing that these pools do not parallel tissue metabolism of a single dose of omega-3 fatty acids. The distributions of labeled fatty acids for LNA*-dosed animals were similar, in the order DHA > DPA > EPA > LNA, except for erythrocytes where docosapentaenoic acid predominated. These are the first direct measurements of the bioequivalence of DHA and LNA in neonatal primate brain and associated tissues.

Background: A total of 620 healthy term neonates, randomly selected among babies born at the San Paolo Hospital in Milan (Italy), were examined to study the relationship between birthmarks and transient cutaneous lesions in newborns of different ethnic groups. Methods: Information on sociodemographic factors and on physiopathological variables of the pregnancy was collected. Multiple logistic analyses were performed to assess associations between diagnosed skin lesions and various factors. Odds ratios (OR) as a measure of association and the corresponding 95% confidence intervals were estimated. Results: A positive association was found between reduced hypoderm and pregnancy illness (OR = 2.78), hypertrophy genitalia and use of drugs (OR = 1.86) and illnesses in pregnancy (OR = 1.61). Hyperpigmentation in the genital area and Mongolian spot showed significant positive association with geographical area of origin, being systematically more frequent in non-European neonates, while for melanocytic congenital nevi a positive association was observed only for Asiatic newborns (OR = 4.67); salmon patch on the nape showed a significant OR of 1.81 among mothers aged ≧35. Conclusions: Significant associations between some sociodemographic factors and cutaneous lesions of the newborn and anamnestic data related to the pregnancy were found. Dermatologic conditions are common in the newborns and may justify dermatologic examination.

Children allergic to cow's milk and soy tolerate an HRF clinically. This suggests that rice hydrolysate may be used as a protein source for children with multiple food-induced reactions.