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SMPD4 loss is a rare neurodevelopmental disorder that leads to severe mental and physical disability and early death in infancy. Most cases of this genetic condition have been diagnosed postnatally. This article focuses on the prenatal findings of affected fetuses. The phenotypes can include growth restriction, arthrogryposis (clenched hands, foot deformity), as well as cerebral abnormalities (simplified gyral pattern/lissencephaly, cerebellar hypoplasia, corpus callosum deformity). SMPD4 loss is detectable via exome sequencing. Here, two fetuses displayed a homozygotic pathogen variant in the SMPD4 gene, encoding for the enzyme Sphingomyelinase-4. Both parents were heterozygous carriers of the pathogenic variant. On detection of the above mentioned signs exome sequencing is indicated, with focus on the SMPD4 gene.  相似文献   
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Biomolecules are vitally important elements in nanoscale science and also in future nanotechnology. Their shape and their chemical and physical functionality can give them a big advantage over inorganic and organic substances. While this becomes most obvious in proteins and peptides, with their complicated, but easily controlled chemistry, other biomolecular substances such as DNA, lipids and carbohydrates can also be important. In this review, the emphasis is on one-dimensional molecules and on molecules that self-assemble into linear structures, and on their potential applications. An important aspect is that biomolecules can act as templates, i.e. their shape and chemical properties can be employed to arrange inorganic substances – such as metals or metal compounds – on the nanometre scale. In particular, rod- and tube-like nanostructures can show physical properties that are different from those of the bulk material, and thus these structures are likely to be a basis for new technology.  相似文献   
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In many cases in which climate change affects natural resources, impacts are uncertain and adaptation to climate change often involves collective action problems at the local level, which are embedded in multilevel governance regimes. Adaptive management (AM) is an emerging approach to deal with such uncertainty and complexity by promoting multilevel institutions that are robust to change and able to learn. Much of the literature evaluating AM in multilevel governance regimes, however, focuses only on the adherence to certain structural features said to make AM successful, leaving aside the question whether AM actually produces desired outcomes. This paper evaluates AM in multilevel regimes also in terms of the outcomes they produce. To this end, we first apply the Management and Transition Framework (MTF) in order to describe three multilevel regimes in Lesotho. For each regime we then observe whether it adheres to the structure features of AM. Finally, we evaluate the extent to which the outcomes, natural resource management projects, are conducive to Ostrom's (1990) ‘design principles’ for sustainable common-pool resource management. We find that, though no ideal ‘adaptive regime’ is found in Lesotho, the results confirm the AM hypotheses that decentralised decision-making, open information sources, and plurality of user interests lead to improved outcomes. Conversely, elements of the climate regime are found not to be adaptive. Our findings also confirm the appropriateness of AM as a governance approach to climate adaptation.  相似文献   
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The effects of month of birth (MOB) on life expectancy of a German subpopulation was investigated. Data from people who died in North Rhine Westphalia in the years 1984 (n=188,515) and 1999 (n=188,850) were analyzed. For comparative purposes, all deaths that occurred at an age of <50 years were excluded (1984: 8.4%; 1999: 6.2%). In general, individuals born in May through July had the lowest age at death (1984: 75.27±0.09 years; 1999: 77.58±0.09 years), while those born between October and December had the highest (1984: 75.98±0.08 years; 1999: 78.35±0.09 years), supporting earlier findings. The observed amplitudes (differences between highest and lowest values) were more pronounced in men than in women. When comparing these data of MOB effects on life expectancy with earlier findings in Australia, Austria, Denmark, Ukraine, and the USA, it is evident that a negative correlation exists between the average age at death and the MOB amplitudes. Separate analyses by gender, possible for the data from Germany, the Ukraine, and the USA, revealed a significant negative correlation for men, but not for women. A new hypothesis is therefore presented describing an influence of life quality, as reflected by average life expectancy, on the extent of MOB effects; for example, seasonally variable sensitivities during pregnancy/early childhood.  相似文献   
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