BACKGROUND Three- pregnancies with male offspring in one family were complicated by severe polyhydramnios and prematurity. One fetus died; the other two had transient massive salt-wasting and polyuria reminiscent of antenatal Bartter's syndrome. METHODS To uncover the molecular cause of this possibly X-linked disease, we performed wholeexome sequencing of DNA from two members of the index family a

Defects in the synthesis pathways of amino acids have only been discovered in recent years and are relatively unknown to most clinicians. In this chapter disorders neurological symptoms caused by genetic defects in the synthesis of the amino acids serine, glutamine and proline are discussed. Patients with serine deficiency invariably suffer from severe neurological symptoms such as microcephaly, p

Based on an analysis of recordings of services during the first year (2008–2009) ofthe Nokia Missio Church, Finland, I analyse the verbal persuasion techniques thatare used to affect the audience to change their beliefs and behaviour. In thesemeetings, the rhetorical situation warrants special attention, which is achieved withthe help of Lloyd Bitzer’s theory. The analysis shows how persuasive tecBased on an analysis of recordings of services during the first year (2008–2009) of the Nokia Missio Church, Finland, I analyse the verbal persuasion techniques that are used to affect the audience to change their beliefs and behaviour. In these meetings, the rhetorical situation warrants special attention, which is achieved with the help of Lloyd Bitzer’s theory. The analysis shows how persuasive

Exporting is a central growth strategy for most firms and managers with international experience are instrumental for export decisions. We suggest that such managers can be hired from Multinational Corporations (MNCs). We integrate theory from strategic human capital research into models explaining export decisions. We theorize that hiring managers from MNCs increases the odds of domestic firms to

Wild bees are declining in many parts of the world, which poses a risk for crop pollination and ecosystem health. Land use and climate change are two of the main drivers of the decline, and understanding the interactive effects of these two drivers and wild bees is very important to be able to develop proper responses and mitigate future negative effects. In this thesis I have investigated the eff

It is now well established that electrochemical systems can optimally perform only within a narrow range of temperature. Exposure to temperatures outside this range adversely affects the performance and lifetime of these systems. As a result, thermal management is an essential consideration during the design and operation of electrochemical equipment and, can heavily influence the success of elect

There is growing evidence that engaging in extra-pair copulations may be a strategy by which females can modify their initial mate choice if they are constrained by primary choice of the social mate. Several factors such as genetic similarity and adult phenotypic traits can affect extra-pair paternity (EPP) patterns, but the relative importance of these factors may vary among species. Moreover, in

Objective: To assess the occurrence of self-reported fatigue among men and women who have returned to work after stroke, and the association between 2 fatigue rating scales. Design: A cross-sectional study. Subjects: A total of 91 adults (58 men/33 women, mean age 53 years) with mild to moderate disability. Methods: Questionnaires were posted to participants approximately one year after stroke. Fa

The invention relates to an inositol phosphate containing pharmaceutical composition which comprises an aliphatic ester or ether for improvement of the bioavailability of the inositol phosphate in mammals including man at non-parenteral administration. The invention also covers the use of at least one aliphatic ester or ether compound for the preparing of an inositol phosphate containing medicamen

The supply of carbon (C) from tree photosynthesis to ectomycorrhizal (ECM) fungi is known to decrease with increasing plant nitrogen (N) supply, but how this affects fungal nutrition and growth remains to be clarified. We placed mesh-bags with quartz sand, with or without an organic N (15N-, 13C-labeled) source, in the soil along a natural N supply gradient in boreal forest, to measure growth and

BACKGROUND: Takotsubo syndrome (TS) is a potentially life-threatening acute cardiac syndrome with a clinical presentation similar to myocardial infarction and for which the natural history, management, and outcome remain incompletely understood. Our aim was to assess the relative short-term mortality risk of TS, ST-segment–elevation myocardial infarction (STEMI), and non-STEMI (NSTEMI) and to iden

PAH och CTEPH är sällsynta sjukdomar, präglade av andfåddhet, vilket ska utredas tidigt intill klar diagnos föreligger.Omhändertagande vid PAH och CTEPH kräver en multidisciplinär mottagning med specialistutbildade läkare samt kontaktsjuksköterskor.Samarbete mellan SveFPH och patientföreningen PAH Sverige har skapat en nationell samsyn kring PAH- och CTEPH-specialistcentrum och -mottagningar vid lThe PAH and CTEPH care in Sweden is since 2007 structured in collaboration with the Swedish Society of Pulmonary Hypertension (SveFPH) and centralized to pulmonary hypertension (PH) centers at the university hospitals. At biannual SveFPH meetings, ideas are exchanged to spread new knowledge on diagnostics and treatment in Sweden. The PAH-CTEPH centers are to be further stimulated to provide indivi

Coherent multidimensional spectroscopy (CMDS) is the most complete nonlinear optical technique based on the interaction of multiple short laser pulses with matter. It has grown to play a significant role in studies of optoelectronic materials and pigment protein complexes. In this work we apply CMDS to investigate electronic excitations and their dynamics in semiconductor nanocrystals, so called q

Political scientists routinely face the challenge of assessing the quality (validity and reliability) of measures in order to use them in substantive research. While stand-alone assessment tools exist, researchers rarely combine them comprehensively. Further, while a large literature informs data producers, data consumers lack guidance on how to assess existing measures for use in substantive rese