Congenital thrombotic thrombocytopenic purpura/hemolytic uremic syndrome (TTP/HUS) is associated with an inherited von Willebrand factor-cleaving protease (ADAMTS13 [a disintegrin and metalloprotease with thrombospondin type I domains 13]) deficiency. In this study, we identified novel mutations in the ADAMTS13 gene in a patient with TTP. The patient was a 51-year-old Japanese male who exhibited TTP symptoms at frequent intervals. The ADAMTS13 activity during acute episodes was less than 3% that of normal. The enzyme activities of the patient's father and mother were both 46%, and both parents were asymptomatic. Genetic analysis revealed that the patient was a compound heterozygote for 2 mutations. One mutation was a missense mutation in the metalloprotease domain (A250V, exon 7), and the other was a guanine to adenine substitution at the 5 end of intron 3 (intron 3 G3A). In vitro expression studies revealed that the A250V mutation markedly reduced ADAMTS13 activity and the intron 3 G3A mutation caused abnormal mRNA
The new recommendation of the International Commission on Radiological Protection for occupational eye dose is an equivalent dose limit to the eye of 20 mSv year–1, averaged over a 5-year period. This recommendation is a drastic reduction from the previous limit of 150 mSv year–1. Hence, it is important to protect physicians’ eyes from X-ray radiation. Particularly in interventional radiology (IVR) procedures, many physicians use protective lead (Pb) glasses to reduce their occupational exposure. This study assessed the shielding effects of novel 0.07 mm Pb glasses.
The novel glasses (XR-700) have Pb–acrylic lens molded in three dimensions. We studied the novel type of 0.07 mm Pb glasses over a period of seven consecutive months. The eye dose occupational radiation exposure of seven IVR physicians was evaluated during various procedures. All IVR physicians wore eye dosimeters (DOSIRIS™) close to the left side of the left eye. To calculate the shielding effects of the glasses, this same type of eye dosimeter was worn both inside and outside of the Pb lenses.
The average shielding effect of the novel glasses across the seven physicians was 61.4%. Our results suggest an improved shielding effect for IVR physicians that use these glasses. No physician complained that the new glasses were uncomfortable; therefore comfort is not a problem.
The lightweight glasses were acceptable to IVR physicians, who often must perform long procedures. Thus, the novel glasses are comfortable and reasonably protective. Based on the results of this study, we recommend that IVR physicians use these novel 0.07 mm Pb glasses to reduce their exposure.
Metabolic syndrome refers to obesity-associated metabolic disorders that increase the risk of type 2 diabetes, coronary diseases, stroke, and other disabilities. Environmental imbalance during the early developmental period affects health and increases susceptibility to non-communicable diseases, including metabolic syndrome, in later life; therefore, the Developmental Origins of Health and Disease (DOHaD) theory was established. According to the DOHaD theory, the hypothesis of the energy-saving ‘Thrifty Phenotype’ in undernourished fetuses is one of the well-accepted schemes as a risk of developing metabolic syndrome. This phenotype is evolutionarily advantageous for survival of the fittest in a hangry environment after birth, a strong selection pressure, but increases the risk of developing metabolic syndrome under an obesogenic diet according to the ‘Mismatch’ hypothesis. Increasing evidences support that chronic inflammation pathophysiologically connects obesity to metabolic disorders in metabolic syndrome, leading to the concept of ‘Metaflammation’. ‘Metaflammation’ in humans is proposed to originate from the evolutionary conservation of crosstalk between immune and metabolic pathways; however, few studies have investigated the contribution of evolutionary maladaptation to the pathophysiology of ‘Metaflammation’. Therefore, it is promising to investigate ‘Metaflammation’ from the viewpoint of selective advantages and its ‘Mismatch’ to an unexpected environment in contemporary lifestyles, in consideration of the principal concept of evolutionarily conserved nutrient sensing and immune signaling systems.
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