A Novel Point Mutation Affecting the Tyrosine Kinase Domain of the TRKA Gene in a Family with Congenital Insensitivity to Pain with Anhidrosis

A nerve growth factor receptor encoded by the TRKA gene plays an important part in the formation of autonomic neurons and small sensory neurons in dorsal root ganglia and in signal transduction through its intracytoplasmic tyrosine kinase domain. Recently, three mutations in the tyrosine kinase domain of TRKA have been reported in patients with congenital insensitivity to pain with anhidrosis, which is an autosomal recessive disorder characterized by recurrent fever due to absence of sweating, no reaction to noxious stimuli, self-mutilating behavior, and mental retardation. We examined the TRKA gene in five generations of a large Japanese family with many consanguineous marriages who live in a small remote island of the southern part of Japan. We found a novel point mutation at nucleotide 1825 (A→G transition) resulting in Met-581-Val in the tyrosine kinase domain. Two of the three affected patients were homozygous for this mutation; however, the third affected patient was heterozygous. Further analysis revealed that the third patient was a compound heterozygote with the Met-581-Val mutation in one allele and with a single base C deletion mutation at nucleotide 1726 in exon 14 in the other allele, resulting in a frameshift and premature termination codon

Changes in Image Examinations at the Department of Oral Radiology : The Number of Intraoral and Panoramic Radiographs

After the computed radiography (CR) system was developed in 1986, it became possible to acquire, view and save digital images for medical diagnosis. Around that time, panoramic radiography was digitized by the CR system, but it was limited to large hospitals. From 1994, it has been digitized at large hospitals and dental clinics. We examined the changes in the number of intraoral and panoramic radiographs in dentistry, and based on the relationships among the numbers of radiographs, patients and dental operations, we discussed the clinical significance of digitization. We extracted intraoral and panoramic radiography data, the number of dental operations and the number of patients from the database of Tokushima University Hospital from 2002 to 2017. Then, we extracted nationwide data from Statistics of Medical Care Activities in Public Health by the Ministry of Health, Labour and Welfare from 2002 to 2017. As a result, although the numbers of patients and dental operations at Tokushima University Hospital have remained constant, the number of intraoral radiographs has decreased (72%), whereas the number of panoramic radiographs has increased annually since 2011 (131%). In addition, although the number of patients and nationwide insurance points increased in a different manner than that at Tokushima University Hospital, a decrease in the number of intraoral radiographs and an increase in the number of panoramic radiographs were noted across Japan. As panoramic imaging has been improved and adapted to different settings, panoramic radiography has been used instead of intraoral radiography, and it has been widely used in screening applications such as for perioperative patients. Although digitization is progressing, the analog images are still used (intraoral radiography analog rate, 29.7%, panoramic radiography analog rate, 12.4% in 2017)

The Constrained Maximal Expression Level Owing to Haploidy Shapes Gene Content on the Mammalian X Chromosome.

X chromosomes are unusual in many regards, not least of which is their nonrandom gene content. The causes of this bias are commonly discussed in the context of sexual antagonism and the avoidance of activity in the male germline. Here, we examine the notion that, at least in some taxa, functionally biased gene content may more profoundly be shaped by limits imposed on gene expression owing to haploid expression of the X chromosome. Notably, if the X, as in primates, is transcribed at rates comparable to the ancestral rate (per promoter) prior to the X chromosome formation, then the X is not a tolerable environment for genes with very high maximal net levels of expression, owing to transcriptional traffic jams. We test this hypothesis using The Encyclopedia of DNA Elements (ENCODE) and data from the Functional Annotation of the Mammalian Genome (FANTOM5) project. As predicted, the maximal expression of human X-linked genes is much lower than that of genes on autosomes: on average, maximal expression is three times lower on the X chromosome than on autosomes. Similarly, autosome-to-X retroposition events are associated with lower maximal expression of retrogenes on the X than seen for X-to-autosome retrogenes on autosomes. Also as expected, X-linked genes have a lesser degree of increase in gene expression than autosomal ones (compared to the human/Chimpanzee common ancestor) if highly expressed, but not if lowly expressed. The traffic jam model also explains the known lower breadth of expression for genes on the X (and the Z of birds), as genes with broad expression are, on average, those with high maximal expression. As then further predicted, highly expressed tissue-specific genes are also rare on the X and broadly expressed genes on the X tend to be lowly expressed, both indicating that the trend is shaped by the maximal expression level not the breadth of expression per se. Importantly, a limit to the maximal expression level explains biased tissue of expression profiles of X-linked genes. Tissues whose tissue-specific genes are very highly expressed (e.g., secretory tissues, tissues abundant in structural proteins) are also tissues in which gene expression is relatively rare on the X chromosome. These trends cannot be fully accounted for in terms of alternative models of biased expression. In conclusion, the notion that it is hard for genes on the Therian X to be highly expressed, owing to transcriptional traffic jams, provides a simple yet robustly supported rationale of many peculiar features of X's gene content, gene expression, and evolution

2階床ろ層による下水2次処理水の直接ろ過

lower part has been proposed for the direct filtration of secondary waste water effluent from an activated sludge treatment plant. Filtration without coagulation gave, for the model proposed, a filter run length five times that of the single sand bed filter at the rate of 120 m/day. Laboratory experiments were carried out to evaluate the optimum values of pH and aluminum dosage that gave a color removal of up to 70%. Coagulant-assisted filtration without pH control gave a color removal of up to 40%. The filter performance was measured in terms of (1)filter run length and (2)removal of color, COD and phosphate

2階床直接ろ過による下水2次処理水の色度・濁度の除去

Coagulant-assisted filtration through a dual-media filter, with pH adjusted to 5.5-6, gave an average effluent turbidity of less than 0.5 mg/L at a filtration rate of 120 m/day. The dual-media filter has a coarse medium bed at the upper part and a sand bed at the lower part. The removal efficiency was almost 100% for turbidity and 50-60% for color. Though 80% of the removed flocs were in the coarse medium, the head loss in that part was less than 20% that of the total head loss. The coagulant dosage of 4 mg Al3+/L was the optimum for filtration