An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis.

Background: Autosomal recessive distal renal tubular acidosis (dRTA) is a rare hereditary disease caused by pathogenic variants in the ATP6V0A4 gene or ATP6V1B1 gene, and characterized by hyperchloremic metabolic acidosis with normal anion gap, hypokalemia, hypercalciuria, hypocitraturia and nephrocalcinosis. Although several intronic nucleotide variants in these genes have been detected, all of them fell in the apparent splice consensus sequence. In general, transcriptional analysis is necessary to determine the effect on function of the novel intronic variants located out of splicing consensus sequences.

Estimation of measles vaccine coverage needed to prevent transmission in schools.

Background: The aim of the present study was to produce the first estimation in Japan of the basic reproduction number (R(0)) and the minimum level of vaccine coverage needed to prevent measles outbreaks (P(c)).

Methods: A questionnaire survey was conducted during two measles outbreaks among 12-15-year-old middle school students in one prefecture in spring, from the end of February to the beginning of May 2002, and a stochastic mathematical model was constructed to calculate vaccine effectiveness (VE) and the basic reproduction number (R(0)). P(c) was calculated from R(0) and VE.

Development of a new method for diagnosis of rubella virus infection by reverse transcription-loop-mediated isothermal amplification.

We developed a useful method for the detection of rubella virus genome RNA by reverse transcription loop-mediated isothermal amplification (RT-LAMP) and compared the sensitivity of RT-LAMP with that of other virological tests: reverse transcription-PCR (RT-PCR) and virus isolation. The rubella virus genome was amplified by RT-LAMP from clinical isolates obtained between 1987 and 2004 with similar sensitivities to the Takahashi vaccine strain. The detection limit of RT-LAMP was compared with that of RT-PCR using the Takahashi vaccine strain.

Superconductivity of the Sr2Ca12Cu24O41 spin-ladder system: are the superconducting pairing and the spin-gap formation of the same origin?

Pressure-induced superconductivity in a spin-ladder cuprate Sr2Ca12Cu24O41 has not been studied on a microscopic level thus far although the superconductivity was already discovered in 1996. We have improved the high-pressure technique using a large high-quality crystal, and succeeded in studying the superconductivity using 63Cu nuclear magnetic resonance. We found that the anomalous metallic state reflecting the spin-ladder structure is realized and the superconductivity possesses an s-wave-like character in the meaning that a finite gap exists in the quasiparticle excitation: At a pressure of 3.