Novel c.2216T > C (p.I739T) Mutation in Exon 13 and c.1481T > A (p.L494X) Mutation in Exon 8 of MUT Gene in a Female with Methylmalonic Acidemia

We report herein a 1.5-year-old girl with methylmalonic acidemia (MMA) in whom two missense mutations were found: a novel I739T mutation located in exon 13 and the L494X mutation in exon 8. The results of organic acid test showed a pronounced increase in methylmalonate excretion with increased methylcitrate and 3-OH-propionate excretion, leading to a diagnosis of MMA, and Vitamin B12 administration was started. Analysis of the mut gene confirmed a T-to-A substitution at nucleotide position 1481 in exon 8 and a T-to-C substitution at nucleotide position 2216 in exon 13, leading to the amino acid isoleucine at position 739 being changed to threonine, resulting in c.2216T > C (p.I739T). The patient has now been on high-dose oral administration of Vitamin B12 and carnitine therapy (900 mg of levocarnitine chloride) for 5 years without experiencing further attacks, and her cognitive and motor development is normal. Further tests on residual enzyme activity, as well as experience with more cases, may shed light on the relationship between gene mutations and phenotypes in MMA

Meteorological Observations at Syowa Station in 1975 by the 16th Japanese Antarctic Research Expedition

This paper describes the results of meteorological observations (surface and aerological) at Syowa Station (69°00'S,39°35'E) between 1 February 1975 and 31 January 1976. The main subjects of the observations, the method, and the equipments are the same as in 1974. The data of the surface observations and the aerological observation were immediately reported to World Meteorological Center in Melbourne via Mawson Station, East Antarctica according to the WMO Regulations. The surface meteorological observations and the piball observation were also carried out en route from Syowa Station to Mizuho Station (70°42'S, 44°20'E) and in ice-free areas on the east coast of Lutzow-Holm Bay. Remarkable meteorological features of this year are as follows ; 1) Temperature in this season was lower than the average, especially monthly mean temperatures for April, July and August were lower than normal year by 2℃ or more. 2) Amount of snow accumulation was larger than that of normal year. 3) Maximum wind speed brought by the severe blizzard at the end of May recorded the highest value ever since Syowa Station was opened

Preliminary study of automatic gastric cancer risk classification from photofluorography

AIM To perform automatic gastric cancer risk classification using photofluorography for realizing effective mass screening as a preliminary study. METHODS We used data for 2100 subjects including X-ray images, pepsinogen I and II levels, PGI/PGII ratio, Helicobacter pylori (H. pylori) antibody, H. pylori eradication history and interview sheets. We performed two-stage classification with our system. In the first stage, H. pylori infection status classification was performed, and H. pylori-infected subjects were automatically detected. In the second stage, we performed atrophic level classification to validate the effectiveness of our system. RESULTS Sensitivity, specificity and Youden index (YI) of H. pylori infection status classification were 0.884, 0.895 and 0.779, respectively, in the first stage. In the second stage, sensitivity, specificity and YI of atrophic level classification for H. pylori-infected subjects were 0.777, 0.824 and 0.601, respectively. CONCLUSION Although further improvements of the system are needed, experimental results indicated the effectiveness of machine learning techniques for estimation of gastric cancer risk