THE DEVELOPMENT OF A MANIKIN TO SIMULATE THE THERMAL PHYSIOLOGY OF PREMATURE INFANTS

This paper describes a manikin (also known as mannequin) to simulate the thermal physiology of premature infants and experiments performed on it.The performance of the manikin is shown to compare well with that a selection of premature infants in terms of their rate of heat loss.     

体外震波碎石术治疗尿路结石(附146例报告)

1991年5月至1992年5月,我院采用国产NE-Ⅳ型碎石机对146例尿路结石患者进行了229人次的原位碎石治疗。碎石成功率为98.63％,碎石术后3个月内肾上盏及肾盂排石率为68.99％,输尿管下段排石率为72.3％。本组结果表明,体外震波碎石治疗尿路结石安全、有效、并发症少。提高碎石疗效在于准确地B超定位及合理地选择适应症。     

Effects of aflatoxin B1 on human skin lipids metabolism — a site of action on 1-14C-acetate incroporation

Zusammenfassung Aflatoxin B₁ hemmt den Einbau von 1-¹⁴C-Azetat in die Lipide der menschlichen Haut. Wird aber³H-Azetyl-CoA als Vorstufe für den Lipideinbau verwendet, so kommt es zu keiner merklichen Hemmung. Die Azetataktivierung scheint somit die wichtigste, vom Toxin beeinflussbare Stufe der Lipidsynthese zu sein.     

DSPP mutation in dentinogenesis imperfecta Shields type II

We identified a nonsense mutation (Gln45stop) in exon 3 of the dentin sialophosphoprotein (DSPP) gene in a Chinese family with dentinogenesis imperfecta Shields type II (DGI-II), in which the affected members showed discoloration and severe attrition of their teeth, with obliterated pulp chambers.     

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium

The autosomal dominant, giant-platelet disorders, May-Hegglin anomaly (MHA; MIM 155100), Fechtner syndrome (FTNS; MIM 153640) and Sebastian syndrome (SBS), share the triad of thrombocytopenia, large platelets and characteristic leukocyte inclusions ('D?hle-like' bodies). MHA and SBS can be differentiated by subtle ultrastructural leukocyte inclusion features, whereas FTNS is distinguished by the additional Alport-like clinical features of sensorineural deafness, cataracts and nephritis. The similarities between these platelet disorders and our recent refinement of the MHA (ref. 6) and FTNS (ref. 7) disease loci to an overlapping region of 480 kb on chromosome 22 suggested that all three disorders are allelic. Among the identified candidate genes is the gene encoding nonmuscle myosin heavy chain 9 (MYH9; refs 8-10), which is expressed in platelets and upregulated during granulocyte differentiation. We identified six MYH9 mutations (one nonsense and five missense) in seven unrelated probands from MHA, SBS and FTNS families. On the basis of molecular modelling, the two mutations affecting the myosin head were predicted to impose electrostatic and conformational changes, whereas the truncating mutation deleted the unique carboxy-terminal tailpiece. The remaining missense mutations, all affecting highly conserved coiled-coil domain positions, imparted destabilizing electrostatic and polar changes. Thus, our results suggest that mutations in MYH9 result in three megakaryocyte/platelet/leukocyte syndromes and are important in the pathogenesis of sensorineural deafness, cataracts and nephritis.     

Forecasting Latent Volatility through a Markov Chain Approximation Filter

We propose a new methodology for filtering and forecasting the latent variance in a two‐factor diffusion process with jumps from a continuous‐time perspective. For this purpose we use a continuous‐time Markov chain approximation with a finite state space. Essentially, we extend Markov chain filters to processes of higher dimensions. We assess forecastability of the models under consideration by measuring forecast error of model expected realized variance, trading in variance swap contracts, producing value‐at‐risk estimates as well as examining sign forecastability. We provide empirical evidence using two sources, the S&P 500 index values and its corresponding cumulative risk‐neutral expected variance (namely the VIX index). Joint estimation reveals the market prices of equity and variance risk implicit by the two probability measures. A further simulation study shows that the proposed methodology can filter the variance of virtually any type of diffusion process (coupled with a jump process) with a non‐analytical density function. Copyright © 2015 John Wiley & Sons, Ltd.     

Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma

We characterized the mutational landscape of melanoma, the form of skin cancer with the highest mortality rate, by sequencing the exomes of 147 melanomas. Sun-exposed melanomas had markedly more ultraviolet (UV)-like C>T somatic mutations compared to sun-shielded acral, mucosal and uveal melanomas. Among the newly identified cancer genes was PPP6C, encoding a serine/threonine phosphatase, which harbored mutations that clustered in the active site in 12% of sun-exposed melanomas, exclusively in tumors with mutations in BRAF or NRAS. Notably, we identified a recurrent UV-signature, an activating mutation in RAC1 in 9.2% of sun-exposed melanomas. This activating mutation, the third most frequent in our cohort of sun-exposed melanoma after those of BRAF and NRAS, changes Pro29 to serine (RAC1(P29S)) in the highly conserved switch I domain. Crystal structures, and biochemical and functional studies of RAC1(P29S) showed that the alteration releases the conformational restraint conferred by the conserved proline, causes an increased binding of the protein to downstream effectors, and promotes melanocyte proliferation and migration. These findings raise the possibility that pharmacological inhibition of downstream effectors of RAC1 signaling could be of therapeutic benefit.     

某些自由基清除剂对哇巴因致豚鼠心律失常的影响——自由基可能参与洋地黄类的毒性过程

本文采用哇巴因致豚鼠心律失常模型,以哇巴目致室性早搏量、致室颤量和致死量作为衡量洋地黄类毒性的指标,观察GSH、三七皂甙Rg_1、Rb_1和AA等自由基清除剂对洋地黄美毒性的影响。结果表明:GSH、三七皂甙Rg_1、Rb_1和AA对哇巴因所致的心律失常均有不同程度的对抗作用,可减轻洋地黄类毒性。提示自由基可能参与洋地黄类的毒性过程。