A range of cardiovascular risk factors associated with stroke are known, but they do not explain all cases of stroke. Genetic factors can be responsible for certain forms of stroke, and are further investigated in this thesis. The aims of this thesis were to study the occurrence of familial clustering of stroke, compile known stroke-associated genetic conditions for diagnostic and research genetic

The Swedish medico-legal concept of “science and proven experience” is both legally important and ambiguous. The conceptual uncertainty associated with it can hamper effective assessment of medical evidence in legal proceedings and encourage medical professionals to distrust legal regulation. We examine normative criteria a functioning medico-legal notion should presumably meet, e.g. clarity, acce

In the age of museomics, the ability to sequence the genetic material from old museum specimens provides an invaluable and often untapped molecular resource. The application of the latest Next-Generation sequencing (NGS) technologies to such specimens allows us to utilise the diverse biobank that is natural history museums. These approaches provide the opportunity to study both extinct or difficul

Direct measurements are presented of the Schottky barrier (SB) heights of carbon nanotube devices contacted with Pd electrodes. The SB barrier heights were determined from the activation energy of the temperature-dependent thermionic emission current in the off-state of the devices. The barrier heights generally decrease with increasing diameter of the nanotubes and they are in agreement with the

We consider the role of electric fields during metal-catalysed thermal chemical vapour deposition growth of carbon nanotubes and show that enhanced growth occurs from a negatively biased electrode. An electric field, applied externally to the growing tubes and/or generated as a result of electron emission or self-biasing, may strongly affect the carbon supply through the catalyst nanoparticle, enh

Intense local heating of Si O2 is shown to occur during chemical vapor deposition growth of single-walled carbon nanotubes in the presence of an electric field. This gives rise to the Marangoni effect where strong convection currents are induced in the molten Si O2 layer. Nanoscale trenches and bumps are formed in the insulating layer directly below the growing nanotube.

Chemical transformation of single-wall carbon nanotubes (SWNT), edge-terminated with carboxylic groups, to SWNT species with amino groups directly attached to the tube open ends has been performed. Different synthetic approaches have been investigated. The reaction products were characterised by FTIR, Raman spectroscopy, XPS and SEM.

Giant cell arteritis (GCA), a systemic large-vessel vasculitis, is a disease that has been treated with glucocorticoids since 1950. Over the years, several disease-modifying anti-rheumatic drugs have been evaluated as steroid-sparing agents with disappointing results. Tocilizumab, an interleukin-6 inhibitor, has in recent years been approved for the treatment of GCA. It remains uncertain whether t

Reliable simulations of flows in real applications involve the task of discretizing both space and time in an accurate and efficient way. To cope with the large semidiscrete systems resulting from a space discretization on appropriate grids, which often include comparatively few very small cells near solid walls for boundary layer resolution, an implicit-explicit time stepping scheme can be the mo

The distal radius fracture is the most common fracture of them all and it affects both men and women of all ages. However, no study had investigated men specifically. The overall aim of this thesis was to comprehensively study adult men with distal radius fracture addressing the bone mass of adult men from working age to the old and in addition, exploring determinants for self-reported outcome and

The T-matrix method (also called the "extended boundary condition method" or "null field approach") is a formalism, which applies to scattering of linear classical waves (i.e. acoustic, electromagnetic and elastic waves). The object of this thesis is to extend the T-Matrix formalism to a geometry consisting of twohalf-spaces, one of which contains a three-dimensional inhomogeneity. The two half-sp

Pontocerebellar hypoplasias are congenital disorders of brain morphogenesis which include such diverse etiologies as carbohydrate-deficient glycoprotein syndrome type 1, cerebromuscular dystrophies (Walker-Warburg syndrome, Fukuyama syndrome, muscle-eye-brain disease) and at least two types of autosomal recessive neurodegenerations known as pontocerebellar hypoplasia type I and II. Pontocerebellar

A growing number of inherited disorders causing severe and progressive neurological deficits are linked to peroxisomal dysfunction. More than 15 peroxisomal diseases with neurological manifestations and some of them with dysmorphic features are identified. The diseases are classified into three groups depending on some similarities in the pathophysiology of the diseases within each group: defectiv