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Type I Bartter syndrome (BS), an inherited salt-losing tubulopathy, is caused by mutations of the SLC12A1 gene. While several intronic nucleotide changes in this gene have been detected, transcriptional analysis had not been conducted because mRNA analysis is possible only when renal biopsy specimens can be obtained or occasionally when mRNA is expressed in the leukocytes. This report concerns a type I BS patient due to compound heterozygosity for the SLC12A1 gene. Genomic DNA sequencing disclosed the presence of two novel heterozygous mutations of c.724 + 4A > G in intron 5 and c.2095delG in intron 16, but it remains to be determined whether the former would be likely to influence the transcription. In this report, we conducted both in vivo assay of RT-PCR analysis using RNA extracted from the proband's urinary sediments and in vitro functional splicing study by minigene construction, and obtained evidence that this intronic mutation leads to complete exon 5 skipping. To the best of our knowledge, this is the first study to use non-invasive methods for both an in vivo assay and an in vitro functional splicing assay of inherited kidney disease. These analytical assays could be adapted for all inherited kidney diseases.

We investigated changes in bone marrow blood flow and histology with aging in rabbits. Bone marrow blood flow was measured by the hydrogen washout method, which was performed in the proximal tibia of Japanese white rabbits, 3-42 months of age. Bone marrow blood flow was found to decrease with age. Histological observations of the proximal tibia identified a decrease in the number of osteoblasts and hematopoietic cells, an increase of the number of empty lacunae, a reduction in bone formation rate, and a degeneration of marrow fat with aging. These results suggest that the decrease of bone marrow blood flow is related to histological changes found with aging.

This paper synthesizes the state-of-the art of the various laboratory testing techniques presently available for measuring the water hydraulic constitutive functions of unsaturated soils. Emphasis is on the laboratory testing techniques for measuring the soilwater retention curves and the water hydraulic conductivity functions of unsaturated soils. The significant recent advances in the investigation of the hydraulic behaviour of unsaturated swelling soils, are also presented. Comprehensive recent references on each measurement method are listed and discussed.