Zinc concentrations in breast milk are considerably higher than those of the maternal serum, to meet the infant's requirements for normal growth and development. Thus, effective mechanisms ensuring secretion of large amounts of zinc into the milk operate in mammary epithelial cells during lactation. ZnT2 was recently found to play an essential role in the secretion of zinc into milk. Heterozygous mutations of human ZnT2 (hZnT2), including H54R and G87R, in mothers result in low (>75% reduction) secretion of zinc into the breast milk, and infants fed on the milk develop transient neonatal zinc deficiency. We identified two novel missense mutations in the SLC30A2/ZnT2 gene in a Japanese mother with low milk zinc concentrations (>90% reduction) whose infant developed severe zinc deficiency; a T to C transition (c.454T>C) at exon 4, which substitutes a tryptophan residue with an arginine residue (W152R), and a C to T transition (c.887C>T) at exon 7, which substitutes a serine residue with a leucine residue (S296L). Biochemical characterization using zinc-sensitive DT40 cells indicated that the W152R mutation abolished the abilities to transport zinc and to form a dimer complex, indicating a loss-of-function mutation. The S296L mutation retained both abilities but was extremely destabilized. The two mutations were found on different alleles, indicating that the genotype of the mother with low milk zinc was compound heterozygous. These results show novel compound heterozygous mutations in the SLC30A2/ZnT2 gene causing zinc deficiency in a breast-fed infant.

Significantly more children with ALRI who needed supplementary oxygen and ventilator management were vitamin D deficient. These findings suggest that the immunomodulatory properties of vitamin D may influence the severity of ALRI.

We report two occurrences of spontaneous pneumomediastinum (SPM) complicating pneumonia in Japanese children infected with the novel influenza A (H1N1) virus (IV). General practitioners especially should suspect possible SPM when examining and treating children with the novel influenza accompanied by status asthmaticus or wheezing. The presented patients illustrate the specific clinical and radiological signs associated with SPM complicating pneumonia in children infected with A(H1N1)v.

Following the diagnosis of CINCA syndrome, anakinra treatment should be commenced as the first line of therapy.

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We report on a 2 years and 9 months old Japanese boy with adrenal hypoplasia and mental retardation (MR) (developmental quotient approximately 60) which occurred in the absence of severe adrenal crisis and resultant brain damage. Cytogenetic and molecular studies were performed in this boy and his parents with normal phenotype, showing that the boy had a maternally derived approximately 2 Mb interstitial Xp deletion involving DAX1 (DSS-AHC critical region on the X chromosome, gene 1) for adrenal hypoplasia congenita and disrupting IL1RAPL (interleukin-1 receptor accessory protein-like) for non-specific MR. The results explain the development of MR in this boy in terms of contiguous gene syndrome, and suggest the importance of IL1RAPL analysis in patients with adrenal hypoplasia and MR.

This study showed that patients with influenza-associated encephalopathy caused by influenza A (H1N1) pdm infection were all older than those with seasonal influenza. Underlying neurological disease or history may be associated with poor prognosis.

Host responses and neuroendocrinological changes during pyrexia in childhood were studied. Serum IL‐β could not be detected in most subjects either during pyrexia or in afebrile periods. IL‐β was detected in two cases, increasing during pyrexia and decreasing during the afebrile period. Plasma ACTH increased during pyrexia, but this was not statistically significant. Serum Cortisol during pyrexia increased to around twice the normal value, and many subjects showed a high level of arginine vasopressin. The subjects, who did not develop dehydration, showed a decrease in serum osmolality and serum sodium during the pyrexia period. Serum Fe and Zn decreased, but serum Cu increased during both periods. It could not be confirmed that IL‐1 activates the hypothalamic‐pituitary‐adrenal axis during pyrexia. It is concluded that AVP is important in the control of fever and the maintenance of homeostasis of body fluid during pyrexia.