Facing the complex challenges of people with epidermolysis bullosa in Austria: a mixed methods study on burdens and helpful practices.

Background: With approximately 500 people affected in Austria, epidermolysis bullosa (EB) is a rare genetic skin disease reducing the quality of life of those affected and their relatives. The intensive efforts of the patient organisation DEBRA Austria during the last decades have led to a unique situation of those affected and their relatives, with increased support and broader knowledge about the disease in the general population. The aim of the study is to evaluate the current situation of patients and their relatives living in Austria, with a focus on burdens and helpful practices.

Translation, cultural adaptation and validation of the German Quality of Life in Epidermolysis Bullosa (QOLEB) questionnaire.

Epidermolysis bullosa (EB) is a rare disease characterised by skin fragility and a wide variety of symptoms. The Quality of Life in Epidermolysis Bullosa (QOLEB) score is an English 17-item EB-specific validated measurement tool with two dimensions: functioning and emotions. The aim of this cross-sectional study was to develop and validate a culturally adapted German QOLEB.

A Satellite-Free Centromere in Chromosome 10.

In mammals, centromeres are epigenetically specified by the histone H3 variant CENP-A and are typically associated with satellite DNA. We previously described the first example of a natural satellite-free centromere on chromosome 11 (ECA11) and, subsequently, on several chromosomes in other species of the genus . We discovered that these satellite-free neocentromeres arose recently during evolution through centromere repositioning and/or chromosomal fusion, after inactivation of the ancestral centromere, where, in many cases, blocks of satellite sequences were maintained.

Effects of a prescribed, supervised exercise programme on tumour disease progression in oncology patients undergoing anti-cancer therapy: a retrospective observational cohort study.

Background: Exercise promotes numerous advantages in both health and disease, and is increasingly being acknowledged to improve overall survival in cancer patients. Preclinical studies indicate a direct effect on tumour behaviour, but human data on the effect of exercise on tumour progression are lacking.

Aims: To capture preliminary clinical data regarding the impact of a prescribed, supervised exercise programme on cancer disease progression.

Mixture of nonionic/ionic surfactants for the formulation of nanostructured lipid carriers: effects on physical properties.

The objective of the present work was to investigate the effects of the mixture of nonionic/ionic surfactants on nanostructured lipid carriers (NLCs). Nonionic surfactant (polyethylene-poly(propylene glycol), Pluronic F68) and ionic surfactant (octenylsuccinic acid modified gum arabic, GA-OSA) were chosen as emulsifier for NLCs. The NLCs systems, which were composed of lipid matrix, modified 4-dedimethylaminosancycline (CMT-8), and various emulsifier agents, were characterized with dynamic light scattering (DLS), high performance liquid chromatography (HPLC), transmission electron microscopy (TEM), small-angle X-ray scattering (SAXS), differential scanning calorimetry (DSC), in vitro release, and phagocytosis assay.

Neuroanatomic analysis of diffusion tensor imaging of white matter tracts with dejerine sections and neuroimaging.

We present a neuroanatomical comparison with stereotaxic precision correlating modern diffusion tensor imaging (DTI), MRI data and classical neuroanatomical textbooks. The neuroatlas compiled by J. and A.

Construction of a 3D probabilistic atlas of human cortical structures.

We describe the construction of a digital brain atlas composed of data from manually delineated MRI data. A total of 56 structures were labeled in MRI of 40 healthy, normal volunteers. This labeling was performed according to a set of protocols developed for this project.

White matter fiber tractography and color mapping of the normal human cerebellum with diffusion tensor imaging.

Diffusion tensor imaging (DTI) color mapping and fiber tractography was used to study the white matter within the cerebellum along with the afferent and efferent tracts associated with the cerebellum in 24 normal human subjects. The most prominent structures that can be readily identified using these DTI techniques are the middle, inferior and superior cerebellar peduncles. Furthermore DTI shows transverse white matter fiber that cross between the two cerebellar hemispheres at the level of the vermis.

Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations.

Horizontal gaze palsy with progressive scoliosis (HGPPS) is caused by mutations in the ROBO3 gene, critical for the crossing of long ascending medial lemniscal and descending corticospinal tracts in the medulla. Diffusion tensor imaging in a patient with HGGPS revealed the absence of major pontine crossing fiber tracts and no decussation of the superior cerebellar peduncles. Mutations in the ROBO3 gene lead to a widespread lack of crossing fibers throughout the brainstem.

The human cerebral cortex on MRI: value of the coronal plane.

The evaluation of different cortical areas of the cerebral cortex has been analyzed using MRI of 50 normal subjects without any neurological symptoms. This analysis has been made with different spin echo and gradient echo in T1 or T2 in three different planes: horizontal, sagittal and coronal. The most accurate plane to define important cortical areas such as Broca area, Wernicke area, temporal cortex at the level of the superior temporal sulcus, angular gyrus, supra marginal gyrus, hippocampal and parahippocampal cortices as well as that of the parieto or temporo-occipital areas is the coronal plane.

Analysis of the brain-stem white-matter tracts with diffusion tensor imaging.

The authors have reviewed the diffusion tensor imaging (DTI) of the brain stem in 19 subjects, consisting of 15 normal volunteers and four multi-system atrophy patients. The study was performed with 1.5 T MRI scanners.

[Susceptibility weighted imaging. Theory and applications].

Susceptibility Weighted Imaging (SWI) is a new MR imaging technique using the BOLD effect (Blood Oxygen Level Dependent) and the differences of susceptibility between tissues. It is a 3D gradient echo, fully velocity compensated sequence. The echo time is chosen to maximize the signal cancellation in veins and a specific post-processing is applied using the phase images as a complementary source of contrast.

Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis.

The mechanisms controlling axon guidance are of fundamental importance in understanding brain development. Growing corticospinal and somatosensory axons cross the midline in the medulla to reach their targets and thus form the basis of contralateral motor control and sensory input. The motor and sensory projections appeared uncrossed in patients with horizontal gaze palsy with progressive scoliosis (HGPPS).

[Magnetic resonance studies in Alzheimer's dementia. What routine scanning shows].

Magnetic resonance images of the brain acquired in relationship to the commissural plane have been analyzed in twenty cases classified as Probable Alzheimer's disease (Pr. AD). These examinations have been compared to normal aged matched subjects.

A longitudinal study of callosal atrophy and interhemispheric dysfunction in relapsing-remitting multiple sclerosis.

Objectives: To determine if callosal atrophy and interhemispheric dysfunction can be detected in the early stages of relapsing-remitting multiple sclerosis (MS) and to evaluate their progression in relation to the disability and evolution of lesions seen on magnetic resonance imaging during a 5-year period.

Methods: We compared 30 patients who had clinically definite early-onset replasing-remitting MS and mild disability with control subjects. Regional and segmental callosal size and extent of white matter abnormalities on magnetic resonance imaging, as well as performance on tasks exploring interhemispheric transfer of motor, auditory, and sensory information were assessed.

MRI of the intracranial corticospinal tracts in amyotrophic and primary lateral sclerosis.

Our aim was to investigate the corticospinal tracts (CST) in motor neurone disease, using MRI, and to correlate findings with clinical data. We studied 31 patients with amyotrophic (ALS) and eight with primary lateral sclerosis (PLS). The signal from the CST was classified into four grades on T2-weighted images, and compared to T2-weighted images of 37 age-matched control subjects.

[Divergent asymmetries of the temporo-parietal cortical areas: anatomo-functional correlations and evolutionary and developmental implications].

Human brains present a clear asymmetry of the postero-lateral cortical area, so called "planum temporale" (Geschwind and Levitsky). This asymmetry is on favour of the left brain. A similar asymmetry is observed on the parietal operculum.

Contrast-enhanced magnetisation transfer MRI in metastatic lesions of the brain.

Our purpose was to compare prospectively the sensitivity of contrast-enhanced magnetisation transfer (MT) MRI and gradient-echo (GE) T1-weighted images in metastatic disease of the brain. We studied 52 patients with brain metastases, using conventional T1-weighted GE and MT spin-echo (SE) images after the same standard dose of gadolinium. Axial 5-mm reconstructions of GE data were compared with 5-mm MT images in the same plane.

MRI of intracranial chordomas. Extent of tumour and contrast enhancement: criteria for differential diagnosis.

We present six proven cases of chordoma of the clivus studied by CT and MRI, with special attention to the extent of the tumour and to the signal intensity after intravenous gadolinium. MRI is the best technique for assessing the extent of the tumour but CT is important for showing osteolysis. Our aim was to determine differential diagnostic neuroradiological criteria.

"Follow-up" method for processing of brain function MR images.

FMRI with standard 1.5 T scanners requires adapted algorithms because the time course of intensity signal showed a non-linearity of the baseline. The protocol contains sequential images covering periods of rest followed periods of stimulation.

Use of anatomical parcellation to catalog and study structure-function relationships in the human brain.

We describe a functional neuroanatomy approach that combines structural (MRI) and functional (PET) data at the individual level. For each subject MRI dataset, sulci are first localized using hemisphere surface rendering and sections and stored. Using these landmarks, the subject brain volume is then divided in 100 anatomical volumes of interest (AVOI).

Theoretical situation of brain white matter tracts evaluated by three-dimensional MRI.

An accurate knowledge of cerebral anatomy is important in order to evaluate the precise location of a cerebral lesion. Cortical structures are identified by knowledge of the adjacent gyri and sulci; however, white matter tracts are difficult to differentiate from one another due to the lack of clear anatomic landmarks. Therefore, even if MRI shows obvious white matter abnormalities, in some cases it is difficult accurately to localize the lesion.