Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2

Superficial epidermolytic ichthyosis (SEI) is an autosomal dominant inherited ichthyosis. SEI is caused by mutations in KRT2 and frequently shows erythroderma and widespread blistering at birth. We report the clinical manifestations of two patients from a Japanese family with SEI caused by a hotspot mutation, p.Glu487Lys, in KRT2. In addition, we summarize previous reports on SEI patients with the identical mutation. One of the two patients had disease onset at the age of 7 months. The other patient’s age of onset is unknown, but it was in childhood. Neither of the two patients showed erythroderma. To perform deep phenotyping, we studied the age of onset and the frequency of erythroderma in 34 reported SEI cases with the p.Glu487Lys mutation, including the present cases. Among the cases with sufficient clinical information, 44.4% of the cases that were due to p.Glu487Lys in KRT2 occurred at birth. Erythroderma was observed in 11.1% of the cases with p.Glu487Lys in KRT2.     

Numerical prediction of fraction of eutectic phase in Sn−Ag−Cu soldring using the phase-field method

A combination of macroscale solidification simulation and phase-field calculation is employed to predict the volume fraction of the eutectic phase in Sn-4.0 mass% Ag-XCu solder alloys (X=0.5–1.1 mass%). The solidification simulation incorporates the cooling rate in the phase-field simulation. We assume the residual liquid solidifies as eutectic phase when the driving force for the nucleation of Cu₆Sn₅ amounts to a critical value, which is determined based on the experimental data. Though the calculation results depend on the experimental data, the obtained fractions are about 40% for 0.5 mass% Cu and more than 90% for 1.1 mass% Cu alloy, which shows good agreement with the experimental data.     

CMOS-compatible lateral bipolar transistor for BiCMOS technology.II. Experimental results

For Pt.I see ibid., vol.39, no.4, p.948-51 (1992). Characteristics of a CMOS-compatible lateral bipolar transistor suitable for low-cost and high-speed BiCMOS LSIs are described. The proposed transistor has a structure analogous to that of the NMOS transistor, which employs a source and drain self-aligned structure to form an emitter and collector. The obtained values of h_FE, BV_CEO, R _CS, f_Tmax, and r_bb', are 20, 7 V, 50 Ω, 6.3 GHz, and 450 Ω, respectively. Moreover, delay times of a two-input NAND BiCMOS gate circuit are 0.28 ns when unloaded, and 0.42 and 0.53 ns when load capacitances are 1 and 2 pF, respectively. These values are comparable to those for BiCMOS circuits using the conventional vertical bipolar transistors     

Synthesis,Liquid‐Crystalline Properties,and Photo‐optical Studies of Photoresponsive Oligomeric Mesogens as Dopants in a Chiral Glassy Liquid Crystal

We have prepared photoresponsive oligomers that have molecular weights of ca. 4500, 8000, and 16 000 g mol^–1 via the free‐radical polymerization of 4‐[4‐alkylphenylazo]phenoxyalkyl acrylates. All of the oligomers possess bilayer smectic A (SmA) and smectic B (SmB) phases. Increasing the concentration of these oligomeric dopants in a glass‐forming cholesteric liquid crystal causes a dramatic red‐shift in the reflection wavelength. The pitch shifts are very dependent on the alkyl chain lengths and molecular weights of the dopants. The oligomer that contains octyl chains and an octyl spacer, and that has a molecular weight of 4500 g mol^–1 exhibits the largest shift in the reflection wavelength. UV exposure has been used to control the cholesteric reflection pitch of the oligomer‐cholesteric glassy liquid‐crystal mixture over the entire visible region of the electromagnetic spectrum and vitrifies the samples by rapid cooling from their cholesteric temperatures to 0 °C. Extremely stable, even at 70 °C, erasable, full‐color images have been created using this host–guest mixture.     

Effect of fermented milk prepared with two probiotic strains on Japanese cedar pollinosis in a double-blind placebo-controlled clinical study

There has been much interest in the potential of using probiotic bacteria for treating allergic diseases. A double-blind, placebo-controlled study was conducted to examine the effectiveness of Lactobacillus GG (LGG) and L. gasseri TMC0356 (TMC0356) in alleviating Japanese cedar pollinosis (JCP), a seasonal allergic rhinitis caused by Japanese cedar pollen. Fermented milk prepared with the tested bacteria or placebo yoghurt was administered to 40 subjects with a clinical history of JCP for 10 weeks. Subjective symptoms, self-care measures and blood samples were compared between the two groups. Peripheral blood mononuclear cells (PBMCs) were collected from seven patients with JCP and in vitro cytokine production by the isolated PBMCs was analysed in the presence of heat-killed lactic acid bacteria. Consumption of the fermented milk significantly decreased the mean symptom score for nasal blockage after 9 weeks (P<0.05) and mean symptom-medication scores after 9 and 10 weeks when compared with the placebo group (P<0.01 and P<0.05 respectively). The tested strains of lactic acid bacteria affected cytokine production by isolated PBMCs in vitro in a strain-dependent manner. LGG significantly inhibited IL-4 and IL-5 production by PBMCs stimulated by both Cry j 1 and PHA. TMC0356 only suppressed IL-5 production stimulated by PHA. The fermented milk prepared with LGG and TMC0356 might be beneficial in JCP because of its effect on nasal blockage. The effects of LGG and TMC0356 might arise at least partly from their specific down-regulation of the human Th2 immune response.     

High levels of free fatty acids and their esters in lymphoid cells resistant to cortisone or cyclophosphamide

The lymphoid cells from thymus, spleen or mesenteric lymph node of mice treated with hydrocortisone or cyclophosphamide contained the significantly high levels of free fatty acids, triglycerides and cholesterol esters as compared to the corresponding cells from untreated animals.     

Effect of l-asparaginase and asparagine deprivation on RNA metabolism in mouse leukemia L 5178Y cells in suspension culture

We analyzed the effect of asparagine starvation and L-asparaginase on RNA metabolism of mouse leukemia cell lines L5178Y, whose growth is dependent on the presence of asparagine, and L5178Y-R, whose growth is independent of the presence of asparagine. The deprivation of asparagine from the medium inhibited cellular protein synthesis by 30 to 40% of the control value in L5178Y cells, but not in L5178Y-R cells, whereas L-asparaginase inhibited synthesis by more than 80% in both L5178Y and L5178Y-R cells. The decrease in protein synthesis caused by asparagine starvation in L5178Y cells was accompanied by a decrease in ribosomal RNA synthesis. The synthesis of rRNA was also markedly blocked when L5178Y and L5178Y-R cells were exposed to L-asparaginase. The rate of synthesis of pulse-labeled RNA decreased significantly in the cells treated with L-asparaginase, and smaller pieces of polyadenylate containing pulse-labeled RNA (presumptive messenger RNA) appeared among monosomes and polysomes. However, the rate of messenger RNA synthesis was constant during asparagine starvation, and a marked accumulation of monosome was observed.     

Comparison of soyasaponin and isoflavone contents between genetically modified (GM) and non-GM soybeans

Soyasaponins and isoflavones are main secondary metabolites in soybeans. In this report we compared the content of secondary metabolites between genetically modified (GM) and non-GM soybeans. Six cultivars/lines of GM and six cultivars/lines of non-GM soybeans were extracted with methanol. Each extract was partitioned with aqueous methanol and hexane and the aqueous methanol fraction was partially purified by HP-20 and LH-20 column chromatography to afford crude soyasaponin and isoflavone fractions. The main A-type soyasaponin, acetylsoyasaponin A1 (AcA1), and the main B-type soyasaponins, soyasaponins I and II (I and II), in the crude fractions were identified by LC/MS analyses with authentic samples. The main isoflavones, daidzin, genistin, daidzein and genistein (DI, GI, DE and GE), in the crude fractions were identified by LC photo-diode array analyses with authentic samples. The contents of AcA1, I and II in the crude soyasaponin fractions and those of DI, GI, DE and GE in the crude isoflavone fractions were analyzed by reversed-phase HPLC. The average contents (mg/100 g) of AcA1, I, II and total of B-type soyasaponins in GM soybeans were 36.4 +/- 24.2, 51.2 +/- 11.8, 26.4 +/- 7.6 and 77.7 +/- 18.5, respectively, and those in non-GM ones were 22.3 +/- 14.7, 46.3 +/- 17.8, 19.8 +/- 9.1 and 65.9 +/- 26.9, respectively. The average contents (mg/100 g) of DI, GI, DE, GE and total isoflavones in GM soybeans were 93.1 +/- 15.5, 121.8 +/- 19.4, 0.073 +/- 0.178, 0.320 +/- 0.082 and 215.3 +/- 33.3, respectively, and those in non-GM ones were 78.8 +/- 34.6, 106.7 +/- 28.3, 2.206 +/- 4.468, 0.822 +/- 0.754 and 188.5 +/- 26.7, respectively. There were no statistically significant differences in soyasaponin and isoflavone contents between GM and non-GM soybeans. Therefore, it was estimated that the GM soybeans are equivalent to the non-GM ones in terms of the composition of the main secondary metabolites.