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AIMS: To investigate the disease causing event in patients with familial hypercholesterolaemia, carrying two mutations each, E256K in exon 6 and I402T in exon 9, of the gene encoding the low density lipoprotein (LDL) receptor. It was not known whether the mutations were positioned in cis or trans, or if they were each pathogenic separately or only when present together. METHODS: Polymerase chain r
Popular Abstract in Swedish Tibet och den tibetanska buddhismen har i väst ofta kommit att användas som synonymer. Tidigt kom landets otillgänglighet och stängda dörrar mot omvärlden att utöva en stark lockelse för resande och religiösa sökare. De kom i många fall att betrakta landet och dess folk som bevarare av en kunskap och vishet som gått den övriga världen förlorad. Föreställningen om den rThis dissertation in anthropology of religion focuses on images of Tibet, among Westerners as well as among Tibetans. Based on approximately one year of fieldwork in the former British Hill station, it also deals with the politics of the Central Tibetan Administration (CTA) and some of its political and social implications for the exiled Tibetan youth living in Dharamsala, India. The Western perc
INTRODUCTION: The pandemic caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has exposed vulnerable populations to an unprecedented global health crisis. The knowledge gained from previous human coronavirus outbreaks suggests that pregnant women and their fetuses are particularly susceptible to poor outcomes. The objective of this study was to summarize the clinical manife
Earth observation-based estimates of global gross primary production (GPP) are essential for understanding the response of the terrestrial biosphere to climatic change and other anthropogenic forcing. In this study, we attempt an ecosystem-level physiological approach of estimating GPP using an asymptotic light response function (LRF) between GPP and incoming photosynthetically active radiation (P
Nitrous oxide (N2O), like carbon dioxide, is a long-lived greenhouse gas that accumulates in the atmosphere. Over the past 150 years, increasing atmospheric N2O concentrations have contributed to stratospheric ozone depletion1 and climate change2, with the current rate of increase estimated at 2 per cent per decade. Existing national inventories do not provide a full picture of N2O emissions, owin
OBJECTIVE: The past few decades have been marked by a bold increase in national health spending across the globe. Rather successful health reforms in leading emerging markets such as BRICS reveal a reshaping of their medical care-related expenditures. There is a scarcity of evidence explaining differences in long-term medical spending patterns between top ranked G7 traditional welfare economies an
Environmental protection has become high in the policy agenda of East Asian countries by the end of the last century due to both internal and external stimuli. One of the main environmental issues is the management of solid waste. The concept of circular economy which encourages reduce, reuse, and recycling, i.e. 3Rs, together with the principle of Extended Producer Responsibility (EPR) has been p
We examined the occurrence of seasonal hypoxia (O-2 < 2 mg l(-1)) in the bottom waters of four river-dominated ocean margins (off the Changjiang, Mississippi, Pearl and Rhone Rivers) and compared the processes leading to the depletion of oxygen. Consumption of oxygen in bottom waters is linked to biological oxygen demand fueled by organic matter from primary production in the nutrient-rich river p
The recovery of marine ecosystems following a mass extinction event involves an extended interval of increasing biotic diversity and ecosystem complexity. The pace of recovery may be controlled by intrinsic ecosystem or extrinsic environmental factors. Here, we present an analysis of changes in marine conditions following the end-Permian mass extinction with the objective of evaluating the role of
The anaerobic oxidation of methane (AOM) removes most of the biologically produced methane (CH 4 ) from marine ecosystems before it enters the atmosphere and thus mitigates greenhouse gas emissions. As compared to marine environments, surprisingly little is known about the role of AOM in terrestrial ecosystems. Particularly, how AOM controls the CH 4 budget of paddy soils is unexplored, partly
Biogenic volatile organic compounds (BVOCs) play essential roles in tropospheric chemistry, on both regional and global scales. The emissions of large quantities of species-specific BVOC depend not only on environmental (temperature, T; photosynthetically active radiation, PAR), but also physiological parameters (i.e. net photosynthetic rate, Pn; transpiration rate, Tr; stomatal conductance, gs an
Is it truly the "end" of public space? This handbook presents evidence that the answer is "no". In cities in different parts of the world, people still use public space to pursue activities of their choice.The book is divided into seven sections. The first section presents three emerging types of public space. Each of the subsequent five sections focuses on a type of activity: recreation, commerce
Climate change substantially affects plant phenology, resulting in earlier vegetation onset across temperate and boreal regions. Phenological shifts caused by warming may alter species interactions across trophic levels because of species-specific responses, and influence the reproductive success of dioecious species if the phenological sensitivity to warming (ST) differs between genders. We used
Agroecosystem photosynthesis is key to coping with global climate change. In farmland where human activities are highly involved, the interaction between environmental factors and their influences on gross primary productivity (GPP) are insufficiently understood. Particularly, the irrigation and mulching in water-saving agriculture can alter the crop responses to environmental change. Based on edd
The management and conservation of lakes should be conducted in the context of catchments because lakes collect water and materials from their upstream catchments. Thus, the datasets of catchment-level characteristics are essential for limnology studies. Lakes are widely spread on the Tibetan Plateau (TP), with a total lake area exceeding 50000km2, accounting for more than half of the total lake a
Microbes inhabiting deep soil layers are known to be different from their counterpart in topsoil yet remain under investigation in terms of their structure, function, and how their diversity is shaped. The microbiome of deep soils (>1 m) is expected to be relatively stable and highly independent from climatic conditions. Much less is known, however, on how these microbial communities vary along cl
Introduction: A large body of research has established a consensus that racial discrimination in CV screening occurs and persists. Nevertheless, we still know very little about how recruiters look at the CV and how this is connected to the discriminatory patterns. This article examines the way recruiters view and select CVs and how they reason about their CV selection choices, as a first step in u
The self-employed and micro, small and medium-sized enterprises (MSMEs) account for the greatest share of employment and make up the largest number of economic units worldwide. However, some countries exclude these economic units from certain obligations under their national labour laws in the belief that such obligations may impair enterprise growth and prosperity. This study considers the ways i
Metamorphosis is a vital developmental event in the life cycle of molluscs and involves extensive morphological and physiological changes. Remodeling of the digestive system is suggested to occur anticipatorily to enable the larva to shift its diet (from filter feeding on microalgae to feeding on small bivalves) after metamorphosis. Changes in the profiles and activities of digestive enzymes, the
