A DC to 40GHz Low Cost Surface Mountable RF-VIA TM Package

The ultimate goal for low cost packages for millimeterwave MMIC is to realize a miniature, light weight surface mount type package. This paper describes the design technologies of newly developed package, where we optimized via design by multilayer ceramic structure. As a result, insertion loss is about –0.5dB at 40 GHz (measurement include mounting board + one feedthrough) has been realized

5-フルオロウラシル系薬剤の副作用に対するDPYD、DPYSおよびUPB1遺伝子バリアントの影響

藤田医科大

Clinical and genetic aspects of mild hypophosphatasia in Japanese patients

Background: Hypophosphatasia (HPP) is a rare inborn error of metabolism that results from a dysfunctional tissue non-specific alkaline phosphatase enzyme (TNSALP). Although genotype-phenotype correlations have been described in HPP patients, only sparse information is currently available on the genetics of mild type HPP. Methods: We investigated 5 Japanese patients from 3 families with mild HPP (patients 1 and 2 are siblings; patient 4 is a daughter of patient 5) who were referred to Fujita Health University due to the premature loss of deciduous teeth. Physical and dental examinations, and blood, urine and bone density tests were conducted. Genetic analysis of the ALPL gene was performed in all patients with their informed consent. Results: After a detailed interview and examination, we found characteristic symptoms of HPP in some of the study cases. Mobile teeth or the loss of permanent teeth were observed in 2 patients, and 3 out of 5 patients had a history of asthma. The serum ALP levels of all patients were 30% below the lower limit of the age equivalent normal range. ALPL gene analysis revealed compound heterozygous mutations, including Ile395Val and Leu520Argfs in family 1, Val95Met and Gly491Arg in family 2, and a dominant missense mutation (Gly456Arg) in family 3. The 3D-modeling of human TNSALP revealed three mutations (Val95Met, Ile395Val and Gly456Arg) at the homodimer interface. Severe collisions between the side chains were predicted for the Gly456Arg variant. Discussion: One of the characteristic findings of this present study was a high prevalence of coexisting asthma and a high level serum IgE level. These characteristics may account for the fragility of tracheal tissues and a predisposition to asthma in patients with mild HPP. The genotypes of the five mild HPP patients in our present study series included 1) compound heterozygous for severe and hypomorphic mutations, and 2) dominant-negative mutations. All of these mutations were at the homodimer interface, but only the dominant-negative mutation was predicted to cause a severe collision effect between the side chains. This may account for varying mechanisms leading to different effects on TNSALP function

Diurnal and geographic variations of pollinator importance for Cucurbita maxima Duchesne

Abstract Despite growing awareness of the importance of monitoring wild crop pollinators worldwide, there are still few reports, especially in East Asia. Considering ongoing global warming may change the distribution range and diurnal activity of pollinators, it is necessary to describe current geographic and diurnal patterns. We clarified pollinators of Cucurbita maxima Duchesne (Cucurbitales: Cucurbitaceae) in three geographically distinct (>350 km, minimum) areas in Japan, focusing on diurnal variation. Apis mellifera L. (Hymenoptera: Apidae) and Halictidae (Hymenoptera) were observed in all of the experimental gardens. Apis cerana japonica Radoszkowski (Hymenoptera: Apidae) were mainly observed in Mie and Kagoshima, while Bombus diversus diversus Smith (Hymenoptera: Apidae) were observed only in Ibaraki. The peak time of flower visits depended both on bee taxa and area, and interestingly, did not necessarily synchronize with the timing of the highest pollen loads and the probability of stigma contact. In particular, visits and probability of contacting stigmas of Halictidae tended to increase as time passed, whereas pollen grains on their bodies sharply decreased with time; only a few individuals of Halictidae that visit early can become effective pollinators. There were no differences in yields between supplementary hand and natural pollination in all areas, and flower‐enclosure experiments using different mesh sizes clarified that small insects that can go across an approximately 4‐mm mesh may not transport sufficient pollen for fruit set. Our study demonstrated that pollination effectiveness, which is usually regarded as a static value, within a taxon can fluctuate in the space of just several hours. Considering such diurnal patterns can be altered by climate change, we need to carefully monitor the diurnal temporal patterns of pollinators worldwide

Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report

Abstract Background Ornithine transcarbamylase deficiency (OTCD) is an X-linked recessive disorder involving a defect in the urea cycle caused by OTC gene mutations. Although a total of 417 disease-causing mutations in OTC have been reported, structural abnormalities in this gene are rare. We here describe a female OTCD case caused by an exonic duplication of the OTC gene (exons 1–6). Case presentation A 23-year-old woman with late-onset OTCD diagnosed by biochemical testing was subjected to subsequent genetic testing. Sanger sequencing revealed no pathogenic mutation throughout the coding exons of the OTC gene, but multiplex ligation-dependent probe amplification (MLPA) revealed duplication of exons 1–6. Further genetic analyses revealed an inversion of duplicated exon 1 and a tandem duplication of exons 2–6. Each of the junctions of the inversion harbored a microhomology and non-templated microinsertion, respectively, suggesting a replication-based mechanism. The duplication was also of de novo origin but segregation analysis indicated that it took place in the paternal chromosome. Conclusion We report the first OTCD case harboring an exonic duplication in the OTC gene. The functional defects caused by this anomaly were determined via structural analysis of its complex rearrangements