四氢生物蝶呤反应性苯丙氨酸羟化酶缺乏症

目的四氢生物蝶呤(BH4)可以使BH4缺乏症病人的血液苯丙氨酸水平正常化,但是对苯丙酮酸尿症(PKU)病人无效。最近在新生儿PKU筛查中发现了对BH4有反应的轻度PKU患者。本研究将探讨BH4和苯丙氨酸羟化酶(PAH)基因突变在对BH4有反应的轻度PKU和轻度高苯丙酸血症(HPA)患者中的作用。方法对经新生儿PKU筛查中发现的生物蝶呤代谢正常的轻度HPA患者,进行单次(10mg/kg)、4次、1周[20 mg/(kg·d)]的BH4口服负荷试验及长期BH4治疗,评估其对BH4口服负荷试验的反应性。结果在单剂量BH4口服负荷试验中,典型PKU患者的血苯丙氨酸水平没有降低。在单剂量BH4口服负荷试验中血苯丙氨酸水平下降超过20%的患者,在4次BH4口服负荷试验中下降亦超过20%。1周BH4负荷试验确认在单剂量和4次BH4负荷试验中表现出弱反应性的病人对BH4有反应。许多患轻度PKU和轻度HPA且有R241C基因位点的病人,都对BH4治疗有反应。在无BH4反应性的典型PKU病人中未发现R241C、P407S和A373T基因突变。结论1周BH4负荷试验用于诊断BH4反应性PAH缺乏症最为有效。等位基因R241C、P407S和A373T与轻度HPA和轻度PKU病人具有H4反应性有关。BH4治疗是针对轻度HPA和轻度PKU的一种新颖、有效的药物治疗,有望代替限制苯丙氨酸饮食的方法。

A Proposal of a Spline Filter that Achieves Both Robustness and Lower Compatibility

A spline filter is used to extract roughness profiles for the measurement of surface texture and is useful when sufficient sections before and after a primary profile could not be secured.This is because a spline filter could prevent the end effect,which is the fluctuation of output data that occurs around both ends of the primary profile and depends on the width of the weighting function of a filter.The spline filter is based on the calculation of an inverse matrix instead of the convolution of the weighting function of the filters.When input data include outliers,the output of a spline filter greatly fluctuates.To solve this problem,we propose a robust spline filter.However,output of the robust spline is not in agreement with that of the spline filter when input data do not include outliers.Thus,the robust spline filter has no lower compatibility.In this paper,the"Fast M-estimation Spline Filter(FMSF)"is proposed.FMSF uses the fast M-estimation method.FMGF performs robust to input data including outliers,and gives the same output as that of general spline filters to input data without outliers.The value estimated by this method is in agreement with that estimated by the least squares method if no outlier exists.In order to apply the fast M-estimation method to the spline filter,convolution of weight function is used instead of the inverse matrix.And the input geometry with shear and point-symmetric extensions is pre-processed to prevent the end effect.

A Proposal of Hyperbolic Fitting Method by Applying the Properties of Functions for Plateau Surface Analysis in ISO 13565-3

ISO 13565-3 provides an evaluation method for plateau structure surfaces used as sliding surfaces in machine tools and automobile engines.The evaluation method for plateau structure surfaces of ISO 13565-3 has problems,such as the processing procedure has an ambiguous basis,and the calculation method is not specified.The existing evaluation method that solves these problems requires the implementation of a difficult algorithm.In subsequent evaluation methods,these problems were resolved,and the implementation of complicated calculation algorithms became unnecessary.However,these methods use algorithms that do not conform to the evaluation method of ISO 13565-3.This lack of adherence to the ISO standard may hinder their application in the industrial world.Therefore,in this study,a new method that conforms to the evaluation method of ISO 13565-3 with a more concise algorithm was developed.We concluded that this proposed method can contribute to the formation of plateau surfaces and production control in the industrial world.

Verification of Characteristics of Gaussian Filter Series for Surface Roughness in ISO and Proposal of Filter Selection Guidelines

In surface roughness measurement,if spikes are included in the primary profile,a problem occurs wherein the Gaussian filter(GF)is unable to extract the shape components.To address this problem,the use of a robust filter is proposed.However,ISO16610-31:Gaussian regression filters(GRF)only provide a single method and a few examples,and does not specify the conditions under which the primary profile can be covered.Moreover,the data presented in the example on robustness in ISO16610-31 do not contain roughness components.In actual roughness measurements,no primary profile exists that does not include a roughness component.Because the characteristics of GRFs are unknown,it is not yet clear which filter should be used for which primary profile,and this is an issue that has been raised at ISO and JIS conferences.In addition,the establishment of filter selection guidelines is necessary at measurement sites.Therefore,this paper clarifies the characteristics of GF-series filters,summarizes the points to be considered when using them,and identifies the filter that should be selected according to different situations.Based on the results,a figure that visualizes the characteristics of filters and a flowchart regarding which filter should be used are created;these tools,to the best of the authors’knowledge,did not exist prior to this study.It is believed that these results will help fulfil the needs of measuring job sites and also aid in filter selection.

Measurement Method of Internal Residual Stress in Plastic Parts Using Terahertz Spectroscopy

Since internal residual stress in polymers causes dimension errors over time,a measurement method for residual stress in polymers,especially in opaque engineering plastics,is strongly required.In this study,we propose to utilize terahertz(THz)spectroscopy to non-destructively measure internal residual stress in polymers.To verify the validity of the proposed method,we manufactured polytetrafluoroethylene ring samples with and without residual stress,and studied them with THz time domain spectroscopy system.THz spectra of samples without residual stress showed almost no polarization difference,whereas spectra of samples with residual stress showed clear polarization difference.Dimension changes between the samples with and without residual stress were also estimated and it was found that the change had a correlation with THz polarization difference.These experimental analyses confirm the validity for the proposed non-destructive measurement of residual stress in polymer.