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Background Darier’s disease (DD) is a rare, inherited skin disorder characterized by warty papules and plaques over the seborrheic area, such as central trunk, flexures, scalp, and forehead. Mutations in ATP2A2 gene encoding the enzyme sarco/endoplasmic reticulum Ca2+ATPase type 2 are responsible for the disease. Here we report two Chinese families affected by DD with two ATP2A2 mutations. Materials and methods DNA was extracted from the peripheral blood samples and then subjected to polymerase chain reaction amplification and direct automated DNA sequencing. Results A heterozygous G to T transition in the first nucleotide of intron 7 (c.630 + 1G > T) and G to A transversion at nucleotide 2898 in exon 20 of the ATP2A2 gene were identified in two pedigrees, respectively. The former mutation in the splice site is a novel mutation and is thought to lead to aberrant splicing and premature protein truncation. The latter has already been described, which leads to premature termination codons (PTC) (W966X). Conclusion The results will contribute to the expanding database of ATP2A2 mutations in patients with DD and be useful for inherited counseling and prenatal examination for affected families.

Sputum occult blood screening (SOBS) for lung cancer was performed in outpatients with suspected lung cancer. A total of 1011 patients were seen. Among them, 604 patients were found to be negative for SOBS, and 407 were found to be positive. The false-negative rate was 3.97% (24 of 604), and the opposite positive rate was 19.65% (80 of 407). A total of 14,431 normal subjects over 40 years of age were screened by SOBS. In the series, 1942 specimens were found to be positive. Among the 1942 patients, 31 were found to have definite cancer cells.

The carbonyl addition of the pinanone ketimine derived from (+) or (−)-2-hydroxy-pinan-3-one and benzylamine has been studied and the optically active α,β-substituted-β-aminoethanol derivatives were obtained in good chemical yields (36.5-69.5%) with optical purity ranging from 1.4% to 99.9%.