Parents' Experiences with Genetic Counseling After the Birth of a Baby with a Genetic Disorder: An Exploratory Study

Little is known about factors determining which families utilize genetic counseling services. We conducted semistructured interviews with parents of four children born with cystic fibrosis (CF) and ten with Down's syndrome (DS) to ascertain reasons for using, or not using, genetic counseling services in the state of Victoria, Australia. We also explored the usefulness of genetic counseling for the families who had experienced it, and the perceived role of genetic counseling. All mothers of children with CF see a genetic counselor as part of a structured education program following diagnosis through newborn screening. Information overload was identified by them as an important problem. There is no specific program for families of children with DS. Six of them had received genetic counseling and four had not, either because it was not specifically offered to them or because they did not pursue it in the context of misconceptions about its purpose. The timing of the offer of genetic counseling is important and needs to take into account parents' coping strategies after diagnosis. Several parents commented on the favorable aspects of counseling, including getting information they needed to deal with the diagnosis and relief of guilt. Better awareness of genetic counseling by referring physicians, and providing counseling at more than one visit, may contribute to a more effective service.     

Retention and thermal desorption of helium in pure tungsten

Tungsten (W) is cited as a candidate first-wall material in fusion reactors owing to its outstanding thermal properties and erosion resistance. An important issue is that the energetic isotopes of hydrogen, tritium (T) and deuterium (D) and helium (He) particles damage the surface of W in fusion reactors. He particles cause more notable damage than D or T because the binding energy of defects and He is larger than that of defects and D or T. In this study, well-annealed W specimens were implanted with 5 keV He ions at room temperature and irradiation dosages of 1.0 × 10²⁰ and 2.5 × 10²¹ ions/m². Then, thermal desorption spectroscopy analysis was performed by heating the samples to 1973 K at a ramping rate of 0.5 K/s. Thermal desorption of He in the sample irradiated with a low dosage occurred at 1400 and 1960 K, whereas that in the sample irradiated with a high dosage occurred at 740, 1050 and 1500 K. According to the microstructures observed using transmission electron microscopy, both peaks in the former case were attributed to He de-trapping from irradiation to nduced helium-vacancy clusters of different sizes, whereas the peaks in the latter case were attributed to He de-trapping from surface defects, irradiation-induced dislocation loops and tiny helium-vacancy clusters, respectively.     

Formation of profuse <c+a> dislocations in deformed calcium-containing magnesium alloys

We report that <c+a> pyramidal slipping could be more easily activated in textured Mg–Ca alloys with increasing Ca contents dissolved in α-Mg matrix under tensile deformation, and it is proposed that the decreased stacking fault energy plays the critical rule. In contrast, only twins and <a> basal dislocations are observed in the compressed samples. The results would provide insight into understanding of the deformation mechanism and designing more ductile Mg alloys.     

Irradiation-enhanced twin boundary migration in BCC Fe

The effects of irradiation on twin boundary migration in BCC Fe are studied by atomistic simulations. It is found that under the applied shear strain–stress, thermal spikes may create twinning dislocation loops (TDLs) at twin boundaries, so triggering twinning. Irradiation-generated clusters of point defect at twin boundaries may act as sources to nucleate TDLs. When a vacancy loop intersects with a twin boundary, the critical stress to activate a TDL is less than half of that required for a defect-free twin boundary.     

Retention and thermal desorption of helium in amorphous and crystalline FeBSi alloys

Helium retention in metals is related to their atomic structure and the type of defects they contain. In order to investigate the dependence of helium retention on structure, amorphous Fe₇₉B₁₆Si₅ and crystalline FeBSi alloys were irradiated by helium ions at room temperature. In the crystalline alloy irradiated with 5 keV He⁺ ions, three types of helium trapping sites were found: surface defects produced by the irradiation, interstitial-type dislocation loops, and voids. Although these defects did not exist in the amorphous FeBSi alloy, we did observe thermal desorption peaks related to all three types. In addition, helium was released during the crystallization of amorphous FeBSi that had been irradiated by He⁺ ions.     

Observation of phase separation in magnetron sputter-deposited Al–Cu thin films

The microstructures of Al–1.8 to 92.5?at.% Cu thin films prepared by radiofrequency (13.56?MHz) cathodic magnetron sputtering have been investigated by X-ray diffraction (XRD) and transmission electronic microscopy (TEM). A phase separation occurs in films of nominal Al–66.64?at.% Cu composition, consisting of a fcc Al solid solution phase, a fcc Cu solid solution phase and an unexpected sc Cu₃Al ordered phase with a Cu₃Au structure and a lattice parameter of about 0.36?nm.     

病历书写中的质量缺陷

病历书写中的质量缺陷存在于主诉、病史、体格检查、病程记录、诊断等各个方面。提高医学生病历书写质量及临床思维能力,是完成高质量病历书写的关键。同时病历书写有关的法律、法规相继出台,对病历书写提出了新的挑战。     

药物成瘾者决策缺陷的特征、机制及干预

药物成瘾者存在决策缺陷, 并表现出冲动性、风险寻求、奖赏失调、躯体内感信号缺失等特征。神经影像学研究表明药物滥用导致成瘾者背外侧前额皮层、前扣带回、眶额叶皮层、腹内侧前额皮层、杏仁核、脑岛等脑区受损, 这些损伤是引发其决策缺陷的主要原因。认知训练有利于提高个体的决策能力, 如目标管理训练和正念冥想等可以增强个体工作记忆、促进自我觉察和以目标为导向的行为; 而非侵入性脑刺激则可以直接改变与成瘾者决策相关脑区的激活状态, 从而提升与决策相关的认知功能。总体而言, 未来认知训练和非侵入性脑刺激在成瘾干预方面仍有广阔的拓展空间。     

Facet-like Structures in Computer Science

This paper discusses how facet-like structures occur as a commonplace feature in a variety of computer science disciplines as a means for structuring class hierarchies. The paper then focuses on a mathematical model for facets (and class hierarchies in general), called formal concept analysis, and discusses graphical representations of faceted systems based on this model.

Pressure-Induced transitions in amorphous TlxSe100−x alloys

Abstract

The electrical resistivity of bulk semiconducting amorphous Tl_xSe_100?x alloys with 0 ≤ x ≤ 25 has been investigated up to a pressure of 14 GPa and down to liquidnitrogen temperature by use of a Bridgman anvil device. All the glasses undergo a discontinuous pressure-induced semiconducting-to-metal transition. X-ray diffraction studies on the pressure-recovered samples show that the high-pressure phase is the crystalline phase. The pressure-induced crystalline products are identified to be a mixture of Se having a hexagonal structure with a = 4·37 Å and c = 4·95 Å and TlSe having a tetragonal structure with a = 8·0 Å and c = 7·0 Å